NRXN1 (neurexin 1) - Rat Genome Database

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Gene: NRXN1 (neurexin 1) Homo sapiens
Analyze
Symbol: NRXN1
Name: neurexin 1
RGD ID: 734185
HGNC Page HGNC:8008
Description: Enables type 1 fibroblast growth factor receptor binding activity. Involved in several processes, including positive regulation of signal transduction; regulation of gene expression; and vocal learning. Located in cell surface; nucleolus; and plasma membrane. Part of trans-synaptic protein complex. Implicated in Pitt-Hopkins-like syndrome 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp313P2036; FLJ35941; Hs.22998; KIAA0578; neurexin I; neurexin I-alpha; neurexin I-beta; neurexin-1; neurexin-1-alpha; neurexin-1-beta; PTHSL2; SCZD17
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38249,918,503 - 51,032,132 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl249,918,503 - 51,225,575 (-)Ensemblhg38GRCh38
GRCh37250,145,641 - 51,259,270 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36250,000,992 - 51,113,178 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34250,059,138 - 50,486,545NCBI
Celera249,985,850 - 51,099,841 (-)NCBICelera
Cytogenetic Map2p16.3NCBI
HuRef249,879,094 - 50,994,141 (-)NCBIHuRef
CHM1_1250,076,199 - 51,190,490 (-)NCBICHM1_1
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
aldicarb  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
antimycin A  (EXP)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
Butylparaben  (ISO)
cadmium dichloride  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
Cuprizon  (ISO)
DDE  (ISO)
DDT  (ISO)
deguelin  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enzacamene  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fenpyroximate  (EXP)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
genistein  (ISO)
glutathione  (EXP)
glyphosate  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (EXP,ISO)
inulin  (ISO)
L-ascorbic acid  (ISO)
lead tetraacetate  (ISO)
lead(0)  (EXP)
linuron  (ISO)
methimazole  (ISO)
methotrexate  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-L-cysteine  (EXP)
nickel atom  (EXP)
orphenadrine  (ISO)
ozone  (EXP,ISO)
paracetamol  (ISO)
pentetrazol  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenylmercury acetate  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
Ptaquiloside  (ISO)
pyrimidifen  (EXP)
rotenone  (EXP)
S-adenosyl-L-methioninate  (EXP)
S-adenosyl-L-methionine  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sulfadimethoxine  (ISO)
tebufenpyrad  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thalidomide  (EXP)
thifluzamide  (EXP)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult behavior  (IEA,IMP,ISO)
AMPA selective glutamate receptor signaling pathway  (ISS)
angiogenesis  (IEA,ISS)
axon guidance  (TAS)
calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  (ISS,NAS)
cell adhesion  (IEA)
cellular response to calcium ion  (ISS)
cerebellar granule cell differentiation  (ISS)
chemical synaptic transmission  (ISO,ISS)
circadian rhythm  (ISO)
establishment of protein localization  (ISS)
filopodium assembly  (ISO)
gamma-aminobutyric acid receptor clustering  (ISS)
gephyrin clustering involved in postsynaptic density assembly  (ISS)
guanylate kinase-associated protein clustering  (ISS)
heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules  (ISS)
learning  (IEA,IMP,ISO)
negative regulation of filopodium assembly  (ISS)
negative regulation of gene expression  (IDA)
neuroligin clustering involved in postsynaptic membrane assembly  (ISS)
neuromuscular process controlling balance  (IMP,ISS)
neuron cell-cell adhesion  (IEA,ISS,NAS,TAS)
neuron maturation  (ISO)
neuron projection development  (IGI)
neuron projection morphogenesis  (NAS)
neuronal signal transduction  (TAS)
neurotransmitter secretion  (ISO,ISS)
NMDA glutamate receptor clustering  (ISS)
NMDA selective glutamate receptor signaling pathway  (ISS)
positive regulation of cAMP-mediated signaling  (IDA)
positive regulation of ERK1 and ERK2 cascade  (IDA)
positive regulation of excitatory postsynaptic potential  (ISS)
positive regulation of fibroblast growth factor receptor signaling pathway  (IDA)
positive regulation of gene expression  (IDA)
positive regulation of neuromuscular synaptic transmission  (NAS)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IDA)
positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway  (IDA)
positive regulation of presynaptic active zone assembly  (TAS)
positive regulation of protein localization to plasma membrane  (ISS)
positive regulation of synapse assembly  (ISO,ISS,TAS)
positive regulation of synapse maturation  (ISO,ISS)
positive regulation of synaptic transmission, GABAergic  (NAS)
positive regulation of synaptic transmission, glutamatergic  (ISS,NAS)
postsynaptic density protein 95 clustering  (ISS)
postsynaptic membrane assembly  (ISS)
prepulse inhibition  (ISO)
presynapse assembly  (ISO)
presynaptic membrane assembly  (ISS)
protein localization to synapse  (ISS)
protein-containing complex assembly involved in synapse maturation  (ISS)
receptor localization to synapse  (ISS)
regulation of grooming behavior  (ISO)
regulation of postsynaptic density assembly  (ISO)
regulation of postsynaptic specialization assembly  (ISO)
regulation of presynapse assembly  (ISO)
regulation of synaptic vesicle cycle  (ISO)
regulation of trans-synaptic signaling by endocannabinoid, modulating synaptic transmission  (ISO)
signal transduction  (ISS)
social behavior  (IEA,IMP)
synapse assembly  (ISO,ISS)
synaptic membrane adhesion  (ISO)
synaptic vesicle clustering  (ISS)
trans-synaptic signaling, modulating synaptic transmission  (ISO)
vesicle docking involved in exocytosis  (ISO)
vocal learning  (IEA,IMP)
vocalization behavior  (IEA,IMP)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Phenotypic characterization of nonsocial behavioral impairment in neurexin 1a knockout rats. Esclassan F, etal., Behav Neurosci. 2015 Feb;129(1):74-85. doi: 10.1037/bne0000024. Epub 2014 Nov 24.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. The neural cell recognition molecule neurofascin interacts with syntenin-1 but not with syntenin-2, both of which reveal self-associating activity. Koroll M, etal., J Biol Chem 2001 Apr 6;276(14):10646-54.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. Gene expression analysis of spontaneously hypertensive rat cerebral cortex following transient focal cerebral ischemia. Raghavendra Rao VL, etal., J Neurochem 2002 Dec;83(5):1072-86.
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1621094   PMID:7695896   PMID:7736595   PMID:8576240   PMID:8699246   PMID:8786425   PMID:8901523   PMID:9430716   PMID:9448462   PMID:9628581   PMID:9707552   PMID:9856994  
PMID:9921901   PMID:11036064   PMID:11171101   PMID:11243866   PMID:11944992   PMID:12036300   PMID:12168954   PMID:12421765   PMID:12477932   PMID:12796785   PMID:12827191   PMID:14522992  
PMID:14702039   PMID:15620359   PMID:15684424   PMID:15797875   PMID:15815621   PMID:16242404   PMID:16344560   PMID:16846852   PMID:17034946   PMID:17158188   PMID:17989066   PMID:18057082  
PMID:18084303   PMID:18093522   PMID:18179900   PMID:18270208   PMID:18490107   PMID:18812509   PMID:18923512   PMID:18940311   PMID:18945720   PMID:19086053   PMID:19197363   PMID:19460752  
PMID:19557195   PMID:19658047   PMID:19675094   PMID:19734545   PMID:19736351   PMID:19822762   PMID:19880096   PMID:19896112   PMID:20113834   PMID:20157312   PMID:20162629   PMID:20201926  
PMID:20347009   PMID:20379614   PMID:20414139   PMID:20421335   PMID:20468056   PMID:20543817   PMID:20691247   PMID:20834067   PMID:20860064   PMID:20967226   PMID:21288692   PMID:21424692  
PMID:21477380   PMID:21559374   PMID:21687627   PMID:21827697   PMID:21890328   PMID:21964664   PMID:22235116   PMID:22337556   PMID:22405623   PMID:22504536   PMID:22617343   PMID:22645275  
PMID:22750515   PMID:22832527   PMID:22832960   PMID:22948383   PMID:23264101   PMID:23294455   PMID:23319000   PMID:23472757   PMID:23495017   PMID:23533028   PMID:23533600   PMID:23536886  
PMID:23638761   PMID:23772147   PMID:23942779   PMID:24064682   PMID:24440292   PMID:24633560   PMID:24680031   PMID:24768552   PMID:24832020   PMID:25201988   PMID:25242362   PMID:25367360  
PMID:25399301   PMID:25450229   PMID:25486015   PMID:25710691   PMID:25737549   PMID:25943950   PMID:26078884   PMID:26216298   PMID:26279266   PMID:26410934   PMID:26590955   PMID:26785044  
PMID:26899349   PMID:27173435   PMID:27195815   PMID:27355804   PMID:27418511   PMID:27708434   PMID:27869829   PMID:28013231   PMID:28120489   PMID:28194405   PMID:28343708   PMID:28641109  
PMID:28641112   PMID:28669545   PMID:29045040   PMID:29426960   PMID:29504935   PMID:29622757   PMID:30021884   PMID:30190612   PMID:30193986   PMID:30262834   PMID:30358070   PMID:30709877  
PMID:30873608   PMID:30988517   PMID:31302032   PMID:31530798   PMID:31784728   PMID:31932357   PMID:32942984   PMID:33476483   PMID:33541421   PMID:33618749   PMID:33756113   PMID:34035170  
PMID:34168285   PMID:34403115   PMID:34487988   PMID:34525970   PMID:34529206   PMID:34687402   PMID:35101781   PMID:35575683   PMID:35627176   PMID:37355690   PMID:37788672   PMID:38334954  
PMID:38697112  


Genomics

Comparative Map Data
NRXN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38249,918,503 - 51,032,132 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl249,918,503 - 51,225,575 (-)Ensemblhg38GRCh38
GRCh37250,145,641 - 51,259,270 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36250,000,992 - 51,113,178 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34250,059,138 - 50,486,545NCBI
Celera249,985,850 - 51,099,841 (-)NCBICelera
Cytogenetic Map2p16.3NCBI
HuRef249,879,094 - 50,994,141 (-)NCBIHuRef
CHM1_1250,076,199 - 51,190,490 (-)NCBICHM1_1
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBIT2T-CHM13v2.0
Nrxn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391790,341,072 - 91,400,587 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1790,341,059 - 91,400,499 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm381790,033,644 - 91,093,159 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1790,033,631 - 91,093,071 (-)Ensemblmm10GRCm38
MGSCv371790,432,984 - 91,492,142 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361790,433,296 - 91,492,142 (-)NCBIMGSCv36mm8
Celera1794,417,402 - 95,489,954 (-)NCBICelera
Cytogenetic Map17E5NCBI
cM Map1759.73NCBI
Nrxn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr868,931,360 - 10,077,381 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl68,935,523 - 10,077,374 (+)EnsemblGRCr8
mRatBN7.263,177,788 - 4,323,848 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl63,177,897 - 4,322,710 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx63,476,659 - 4,613,908 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.063,786,080 - 4,923,338 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.063,310,521 - 4,447,776 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0613,886,757 - 15,191,660 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl613,886,740 - 15,191,660 (-)Ensemblrn6Rnor6.0
Rnor_5.0623,843,153 - 24,482,073 (-)NCBIRnor_5.0Rnor_5.0rn5
Rnor_5.0624,704,937 - 25,145,167 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4614,050,929 - 15,354,069 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera62,975,004 - 4,118,378 (+)NCBICelera
RGSC_v3.1615,245,705 - 15,354,069 (-)NCBI
Cytogenetic Map6q11-q12NCBI
Nrxn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544116,234,070 - 17,178,005 (-)Ensembl
ChiLan1.0NW_00495544116,230,977 - 17,178,003 (-)NCBIChiLan1.0ChiLan1.0
NRXN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21275,325,549 - 76,440,534 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A75,329,515 - 76,444,501 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A50,063,398 - 51,178,659 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A50,981,997 - 52,095,538 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A50,985,067 - 52,091,277 (-)EnsemblpanPan2panpan1.1
NRXN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11051,555,660 - 52,666,774 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1051,558,452 - 52,667,569 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1051,401,804 - 52,511,290 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01052,431,369 - 53,560,787 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1052,431,572 - 53,564,557 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11052,126,286 - 53,234,452 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01052,413,764 - 53,524,238 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01052,609,896 - 53,719,985 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Nrxn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629230,455,821 - 31,526,486 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365081,889,640 - 2,954,039 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NRXN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl389,803,519 - 90,382,034 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1389,799,426 - 90,914,205 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2395,543,189 - 96,298,412 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NRXN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11456,051,849 - 57,202,334 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604554,638,899 - 55,766,868 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nrxn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473831,133,346 - 32,273,565 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462473831,134,551 - 32,273,596 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in NRXN1
2103 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001330078.2(NRXN1):c.2817T>C (p.Asp939=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509638] Chr2:50497395 [GRCh38]
Chr2:50724533 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.753C>A (p.Arg251=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000548792] Chr2:51027521 [GRCh38]
Chr2:51254659 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.105C>T (p.Gly35=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000529246] Chr2:51028169 [GRCh38]
Chr2:51255307 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3202G>A (p.Asp1068Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619689]|not provided [RCV000522309] Chr2:50472340 [GRCh38]
Chr2:50699478 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.12:g.(?_49921924)_(49943811_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000545080] Chr2:49921924..49943811 [GRCh38]
Chr2:50149062..50170949 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1427T>G (p.Val476Gly) single nucleotide variant not provided [RCV000519654] Chr2:50552919 [GRCh38]
Chr2:50780057 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3378T>C (p.Tyr1126=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000547148] Chr2:50236957 [GRCh38]
Chr2:50464095 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.779A>C (p.Asn260Thr) single nucleotide variant Inborn genetic diseases [RCV003159695]|not provided [RCV000523495] Chr2:50925949 [GRCh38]
Chr2:51153087 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.28G>A (p.Gly10Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509562]|not provided [RCV000519914] Chr2:51028246 [GRCh38]
Chr2:51255384 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4291_4294dup (p.Gly1432fs) duplication Schizophrenia 17 [RCV002508128] Chr2:49922173..49922174 [GRCh38]
Chr2:50149311..50149312 [GRCh37]
Chr2:2p16.3		 risk factor
NC_000002.11:g.(?_50214717_50293739_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000022999] Chr2:50214717..50293739 [GRCh37]
Chr2:2p16.3		 pathogenic
NC_000002.11:g.(?_51008023)_(51294599_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000023000] Chr2:51008023..51294599 [GRCh37]
Chr2:2p16.3		 pathogenic
NC_000002.10:g.(50704258_51001003_51113677_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000009607] Chr2:2p16.3 pathogenic
NM_001330078.2(NRXN1):c.656_664del (p.Ala219_Glu221del) deletion NRXN1-related disorder [RCV004537881]|Pitt-Hopkins-like syndrome 2 [RCV001337141]|not provided [RCV000660413] Chr2:51027610..51027618 [GRCh38]
Chr2:51254748..51254756 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1045G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000525075] Chr2:51026457 [GRCh38]
Chr2:51253595 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1135-8C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000543447]|not provided [RCV001755882] Chr2:50621257 [GRCh38]
Chr2:50848395 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2953G>A (p.Asp985Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000544411]|not specified [RCV000517560] Chr2:50496022 [GRCh38]
Chr2:50723160 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.881A>G (p.Tyr294Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000531020] Chr2:50623567 [GRCh38]
Chr2:50850705 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1081A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000700475]|not provided [RCV000522827] Chr2:51026421 [GRCh38]
Chr2:51253559 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.859A>C (p.Lys287Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619686]|not specified [RCV000517579] Chr2:50623589 [GRCh38]
Chr2:50850727 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4029G>A (p.Met1343Ile) single nucleotide variant Inborn genetic diseases [RCV002329231]|Pitt-Hopkins-like syndrome 2 [RCV000697380]|not provided [RCV000521963] Chr2:50053370 [GRCh38]
Chr2:50280508 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2936C>G (p.Ser979Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000009608] Chr2:50496039 [GRCh38]
Chr2:50723177 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001135659.1(NRXN1):c.4249-1927G>T single nucleotide variant Lung cancer [RCV000092156] Chr2:49945718 [GRCh38]
Chr2:50172856 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.1(NRXN1):c.4248+39950G>C single nucleotide variant Lung cancer [RCV000092157] Chr2:50013321 [GRCh38]
Chr2:50240459 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.1(NRXN1):c.3839-7274T>C single nucleotide variant Lung cancer [RCV000092158] Chr2:50062318 [GRCh38]
Chr2:50289456 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.1(NRXN1):c.3667-22260C>T single nucleotide variant Lung cancer [RCV000092159] Chr2:50113754 [GRCh38]
Chr2:50340892 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.1(NRXN1):c.3666+41685G>T single nucleotide variant Lung cancer [RCV000092160] Chr2:50195104 [GRCh38]
Chr2:50422242 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.1(NRXN1):c.2495-340G>T single nucleotide variant Lung cancer [RCV000092161] Chr2:50506957 [GRCh38]
Chr2:50734095 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.1(NRXN1):c.932-142976T>A single nucleotide variant Lung cancer [RCV000092162] Chr2:50766591 [GRCh38]
Chr2:50993729 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.1(NRXN1):c.931+121073G>A single nucleotide variant Lung cancer [RCV000092163] Chr2:50800796 [GRCh38]
Chr2:51027934 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.1(NRXN1):c.931+48874A>G single nucleotide variant Lung cancer [RCV000092164] Chr2:50872995 [GRCh38]
Chr2:51100133 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh38/hg38 2p16.3(chr2:50665709-50755034)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052121]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052121]|See cases [RCV000052121] Chr2:50665709..50755034 [GRCh38]
Chr2:50892847..50982172 [GRCh37]
Chr2:50746351..50835676 [NCBI36]
Chr2:2p16.3		 uncertain significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 copy number gain See cases [RCV000052943] Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1		 pathogenic
GRCh38/hg38 2p16.3(chr2:50448670-50909614)x1 copy number loss See cases [RCV000053982] Chr2:50448670..50909614 [GRCh38]
Chr2:50675808..51136752 [GRCh37]
Chr2:50529312..50990256 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50485201-50531213)x1 copy number loss See cases [RCV000053983] Chr2:50485201..50531213 [GRCh38]
Chr2:50712339..50758351 [GRCh37]
Chr2:50565843..50611855 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50488123-50945044)x1 copy number loss See cases [RCV000054014] Chr2:50488123..50945044 [GRCh38]
Chr2:50715261..51172182 [GRCh37]
Chr2:50568765..51025686 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50548752-50755034)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054015]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054015]|See cases [RCV000054015] Chr2:50548752..50755034 [GRCh38]
Chr2:50775890..50982172 [GRCh37]
Chr2:50629394..50835676 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50710306-51087292)x1 copy number loss See cases [RCV000054016] Chr2:50710306..51087292 [GRCh38]
Chr2:50937444..51314430 [GRCh37]
Chr2:50790948..51167934 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50737710-51173556)x1 copy number loss See cases [RCV000054017] Chr2:50737710..51173556 [GRCh38]
Chr2:50964848..51400694 [GRCh37]
Chr2:50818352..51254198 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50851255-50995129)x1 copy number loss See cases [RCV000054018] Chr2:50851255..50995129 [GRCh38]
Chr2:51078393..51222267 [GRCh37]
Chr2:50931897..51075771 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50856272-51155734)x1 copy number loss See cases [RCV000054019] Chr2:50856272..51155734 [GRCh38]
Chr2:51083410..51382872 [GRCh37]
Chr2:50936914..51236376 [NCBI36]
Chr2:2p16.3		 pathogenic
NM_001135659.1(NRXN1):c.2807G>A (p.Arg936Lys) single nucleotide variant Malignant melanoma [RCV000065625] Chr2:50497525 [GRCh38]
Chr2:50724663 [GRCh37]
Chr2:50578167 [NCBI36]
Chr2:2p16.3		 not provided
NM_001135659.1(NRXN1):c.2609C>T (p.Ala870Val) single nucleotide variant Malignant melanoma [RCV000065626] Chr2:50506503 [GRCh38]
Chr2:50733641 [GRCh37]
Chr2:50587145 [NCBI36]
Chr2:2p16.3		 not provided
NM_001135659.1(NRXN1):c.2196G>A (p.Arg732=) single nucleotide variant Malignant melanoma [RCV000065627] Chr2:50538320 [GRCh38]
Chr2:50765458 [GRCh37]
Chr2:50618962 [NCBI36]
Chr2:2p16.3		 not provided
NM_001135659.1(NRXN1):c.1607G>A (p.Trp536Ter) single nucleotide variant Malignant melanoma [RCV000065628] Chr2:50552859 [GRCh38]
Chr2:50779997 [GRCh37]
Chr2:50633501 [NCBI36]
Chr2:2p16.3		 not provided
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=) single nucleotide variant Inborn genetic diseases [RCV002313756]|Pitt-Hopkins-like syndrome 2 [RCV001082246]|not provided [RCV000723673]|not specified [RCV000186642] Chr2:51028169 [GRCh38]
Chr2:51255307 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) single nucleotide variant Inborn genetic diseases [RCV002311578]|NRXN1-related disorder [RCV004537323]|Pitt-Hopkins-like syndrome 2 [RCV000209954]|not provided [RCV000857869]|not specified [RCV000079510] Chr2:50620057 [GRCh38]
Chr2:50847195 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.1320+10G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001854404]|not provided [RCV000723726]|not specified [RCV000079511] Chr2:50620012 [GRCh38]
Chr2:50847150 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp) single nucleotide variant Inborn genetic diseases [RCV002316228]|Pitt-Hopkins-like syndrome 2 [RCV000764446]|Pitt-Hopkins-like syndrome 2 [RCV001215824]|not provided [RCV000079512] Chr2:50552646 [GRCh38]
Chr2:50779784 [GRCh37]
Chr2:2p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.1969C>T (p.Arg657Trp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000824551]|not provided [RCV000079513] Chr2:50538427 [GRCh38]
Chr2:50765565 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) single nucleotide variant Inborn genetic diseases [RCV002311579]|Pitt-Hopkins-like syndrome 2 [RCV001083273]|not provided [RCV000443049]|not specified [RCV000079514] Chr2:50538274 [GRCh38]
Chr2:50765412 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) single nucleotide variant Inborn genetic diseases [RCV002311580]|Pitt-Hopkins-like syndrome 2 [RCV000467657]|not provided [RCV003421974]|not specified [RCV000173027] Chr2:50506607 [GRCh38]
Chr2:50733745 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=) single nucleotide variant Inborn genetic diseases [RCV002311581]|Pitt-Hopkins-like syndrome 2 [RCV000230396]|not provided [RCV004710474]|not specified [RCV000079516] Chr2:50506571 [GRCh38]
Chr2:50733709 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) single nucleotide variant Inborn genetic diseases [RCV002316229]|NRXN1-related disorder [RCV004537324]|Pitt-Hopkins-like syndrome 2 [RCV000515261]|Pitt-Hopkins-like syndrome 2 [RCV001085353]|not provided [RCV000723597]|not specified [RCV000188281] Chr2:50497607 [GRCh38]
Chr2:50724745 [GRCh37]
Chr2:2p16.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) single nucleotide variant Inborn genetic diseases [RCV002316230]|Pitt-Hopkins-like syndrome 2 [RCV001081066]|not provided [RCV000723568]|not specified [RCV000186645] Chr2:50497482 [GRCh38]
Chr2:50724620 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001330078.2(NRXN1):c.2879+7A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001404961]|not provided [RCV000079519] Chr2:50497326 [GRCh38]
Chr2:50724464 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3012G>A (p.Lys1004=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001078643]|not provided [RCV000079520] Chr2:50495963 [GRCh38]
Chr2:50723101 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3042C>T (p.Thr1014=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001419681]|not provided [RCV000723574]|not specified [RCV000079521] Chr2:50495933 [GRCh38]
Chr2:50723071 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) single nucleotide variant Inborn genetic diseases [RCV002313757]|NRXN1-related disorder [RCV004542756]|Pitt-Hopkins-like syndrome 2 [RCV001085705]|not provided [RCV000710165]|not specified [RCV000186646] Chr2:50495930 [GRCh38]
Chr2:50723068 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001330078.2(NRXN1):c.3071-10C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001497043]|not provided [RCV000723723] Chr2:50472481 [GRCh38]
Chr2:50699619 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) single nucleotide variant Inborn genetic diseases [RCV002316231]|Intellectual disability [RCV001251858]|NRXN1-related disorder [RCV004537325]|Pitt-Hopkins-like syndrome 2 [RCV000515350]|Pitt-Hopkins-like syndrome 2 [RCV001082855]|not provided [RCV000723727] Chr2:51027952 [GRCh38]
Chr2:51255090 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=) single nucleotide variant Inborn genetic diseases [RCV002316232]|Pitt-Hopkins-like syndrome 2 [RCV001086473]|not provided [RCV000723586]|not specified [RCV000186647] Chr2:50472413 [GRCh38]
Chr2:50699551 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001330078.2(NRXN1):c.3364+20T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001513082]|not provided [RCV001675605]|not specified [RCV000079526] Chr2:50465422 [GRCh38]
Chr2:50692560 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) single nucleotide variant Inborn genetic diseases [RCV004019538]|NRXN1-related disorder [RCV004737188]|Pitt-Hopkins-like syndrome 2 [RCV001080183]|not provided [RCV000710166]|not specified [RCV000079527] Chr2:50053466 [GRCh38]
Chr2:50280604 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=) single nucleotide variant Inborn genetic diseases [RCV002311582]|Pitt-Hopkins-like syndrome 2 [RCV000261050]|not provided [RCV001711228]|not specified [RCV000079528] Chr2:51027763 [GRCh38]
Chr2:51254901 [GRCh37]
Chr2:2p16.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001330078.2(NRXN1):c.1958G>A (p.Ser653Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619648]|not provided [RCV000117832] Chr2:50538438 [GRCh38]
Chr2:50765576 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1050C>A single nucleotide variant Inborn genetic diseases [RCV002316312]|NRXN1-related disorder [RCV004737202]|Pitt-Hopkins-like syndrome 2 [RCV000460863]|not provided [RCV000117833] Chr2:51026452 [GRCh38]
Chr2:51253590 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1158+26A>T single nucleotide variant Inborn genetic diseases [RCV002316313]|Intellectual disability [RCV001251856]|NRXN1-related disorder [RCV004529971]|Pitt-Hopkins-like syndrome 2 [RCV001083943]|not provided [RCV000117834]|not specified [RCV002464115] Chr2:50621200 [GRCh38]
Chr2:50848338 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3219C>T (p.Asn1073=) single nucleotide variant Inborn genetic diseases [RCV002312194]|Pitt-Hopkins-like syndrome 2 [RCV001088487]|not provided [RCV000117836]|not specified [RCV000417600] Chr2:50472323 [GRCh38]
Chr2:50699461 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3249C>T (p.Pro1083=) single nucleotide variant Inborn genetic diseases [RCV002313909]|Pitt-Hopkins-like syndrome 2 [RCV000231057]|not provided [RCV004710509]|not specified [RCV000117837] Chr2:50465557 [GRCh38]
Chr2:50692695 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3344G>A (p.Ser1115Asn) single nucleotide variant Inborn genetic diseases [RCV002453433]|Pitt-Hopkins-like syndrome 2 [RCV001046749]|not provided [RCV000117838] Chr2:50465462 [GRCh38]
Chr2:50692600 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=) single nucleotide variant History of neurodevelopmental disorder [RCV000717050]|Pitt-Hopkins-like syndrome 2 [RCV000233932]|not specified [RCV000117839] Chr2:50236927 [GRCh38]
Chr2:50464065 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001330078.2(NRXN1):c.4068G>A (p.Thr1356=) single nucleotide variant History of neurodevelopmental disorder [RCV000716687]|NRXN1-related disorder [RCV004529972]|Pitt-Hopkins-like syndrome 2 [RCV000473497]|not provided [RCV004707979]|not specified [RCV000117840] Chr2:50053331 [GRCh38]
Chr2:50280469 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) single nucleotide variant History of neurodevelopmental disorder [RCV000716113]|Pitt-Hopkins-like syndrome 2 [RCV001082689]|not provided [RCV000723887]|not specified [RCV000186639] Chr2:49922214 [GRCh38]
Chr2:50149352 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001330078.2(NRXN1):c.772+1140G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001079862]|not provided [RCV000513746]|not specified [RCV000117842] Chr2:51026362 [GRCh38]
Chr2:51253500 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001330078.2(NRXN1):c.777C>T (p.Asp259=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001403661]|not provided [RCV000117843] Chr2:50925951 [GRCh38]
Chr2:51153089 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) single nucleotide variant Inborn genetic diseases [RCV002312195]|Pitt-Hopkins-like syndrome 2 [RCV000459957]|not provided [RCV000992454]|not specified [RCV000117844] Chr2:50623548 [GRCh38]
Chr2:50850686 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001330078.2(NRXN1):c.3365-110011C>T single nucleotide variant not specified [RCV000602712] Chr2:50346981 [GRCh38]
Chr2:50574119 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.-922+7A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000326728]|not specified [RCV000127231] Chr2:51031974 [GRCh38]
Chr2:51259112 [GRCh37]
Chr2:2p16.3		 benign|uncertain significance
NM_001330078.2(NRXN1):c.4216+17T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002512525]|not specified [RCV000127232] Chr2:49943687 [GRCh38]
Chr2:50170825 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.798G>A (p.Ala266=) single nucleotide variant NRXN1-related disorder [RCV004532525]|Pitt-Hopkins-like syndrome 2 [RCV000542258]|not specified [RCV000127233] Chr2:50922680 [GRCh38]
Chr2:51149818 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.4217-16A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002055715]|Pitt-Hopkins-like syndrome 2 [RCV002505094]|not specified [RCV000127234] Chr2:49922267 [GRCh38]
Chr2:50149405 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.4236C>T (p.Gly1412=) single nucleotide variant Inborn genetic diseases [RCV002326836]|Pitt-Hopkins-like syndrome 2 [RCV000703577]|not specified [RCV000127235] Chr2:49922232 [GRCh38]
Chr2:50149370 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) single nucleotide variant History of neurodevelopmental disorder [RCV000715969]|Pitt-Hopkins-like syndrome 2 [RCV001085278]|not provided [RCV000463080]|not specified [RCV000127236] Chr2:49922193 [GRCh38]
Chr2:50149331 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=) single nucleotide variant History of neurodevelopmental disorder [RCV000717146]|Pitt-Hopkins-like syndrome 2 [RCV000649752]|not provided [RCV003407536]|not specified [RCV000127237] Chr2:49922076 [GRCh38]
Chr2:50149214 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) single nucleotide variant History of neurodevelopmental disorder [RCV000717459]|NRXN1-related disorder [RCV004532526]|Pitt-Hopkins-like syndrome 2 [RCV000459770]|not provided [RCV001529050]|not specified [RCV000186640] Chr2:49921995 [GRCh38]
Chr2:50149133 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001330078.2(NRXN1):c.-34C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000385562]|not specified [RCV000127239] Chr2:51028307 [GRCh38]
Chr2:51255445 [GRCh37]
Chr2:2p16.3		 benign|uncertain significance
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) single nucleotide variant Inborn genetic diseases [RCV002312908]|NRXN1-related disorder [RCV004528847]|Pitt-Hopkins-like syndrome 2 [RCV001084654]|not provided [RCV000723784]|not specified [RCV000186641] Chr2:50552981 [GRCh38]
Chr2:50780119 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) single nucleotide variant Inborn genetic diseases [RCV002312909]|Pitt-Hopkins-like syndrome 2 [RCV001082810]|not provided [RCV000712449]|not specified [RCV000127241] Chr2:50552771 [GRCh38]
Chr2:50779909 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001330078.2(NRXN1):c.1760-16C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002055716]|not provided [RCV003422016]|not specified [RCV000153603] Chr2:50538652 [GRCh38]
Chr2:50765790 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.2143+19A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002055717]|not provided [RCV004708045]|not specified [RCV000127243] Chr2:50538234 [GRCh38]
Chr2:50765372 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.222C>T (p.Gly74=) single nucleotide variant Inborn genetic diseases [RCV002426688]|Pitt-Hopkins-like syndrome 2 [RCV000462667]|not provided [RCV004597746]|not specified [RCV000127244] Chr2:51028052 [GRCh38]
Chr2:51255190 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2347+18C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002055718]|not specified [RCV000127245] Chr2:50531209 [GRCh38]
Chr2:50758347 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.261C>A (p.Gly87=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000468290]|not specified [RCV000127246] Chr2:51028013 [GRCh38]
Chr2:51255151 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.498G>A (p.Ala166=) single nucleotide variant NRXN1-related disorder [RCV004544276]|Pitt-Hopkins-like syndrome 2 [RCV001087602]|not provided [RCV000724556]|not specified [RCV000186643] Chr2:51027776 [GRCh38]
Chr2:51254914 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) single nucleotide variant Inborn genetic diseases [RCV002312910]|Pitt-Hopkins-like syndrome 2 [RCV001085357]|not provided [RCV000712451]|not specified [RCV000186644] Chr2:51027773 [GRCh38]
Chr2:51254911 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001330078.2(NRXN1):c.2879+20A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002055719]|not specified [RCV000127250] Chr2:50497313 [GRCh38]
Chr2:50724451 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.3365-109709A>G single nucleotide variant not specified [RCV000127256] Chr2:50346679 [GRCh38]
Chr2:50573817 [GRCh37]
Chr2:2p16.3		 benign
GRCh38/hg38 2p16.3(chr2:50453657-50665768)x1 copy number loss See cases [RCV000133648] Chr2:50453657..50665768 [GRCh38]
Chr2:50680795..50892906 [GRCh37]
Chr2:50534299..50746410 [NCBI36]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val) single nucleotide variant Inborn genetic diseases [RCV002433764]|Pitt-Hopkins-like syndrome 2 [RCV000868228]|not provided [RCV001721105]|not specified [RCV000174865] Chr2:50497705 [GRCh38]
Chr2:50724843 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p16.3(chr2:51251498-51491417) copy number loss Global developmental delay [RCV001291963] Chr2:51251498..51491417 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.4080T>C (p.Thr1360=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001303039] Chr2:50053319 [GRCh38]
Chr2:50280457 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
GRCh37/hg19 2p16.3(chr2:51005771-51246088)x1 copy number loss See cases [RCV000184078] Chr2:51005771..51246088 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.1382C>T (p.Pro461Leu) single nucleotide variant Inborn genetic diseases [RCV002517666]|Pitt-Hopkins-like syndrome 2 [RCV000549238]|not provided [RCV000724087] Chr2:50552964 [GRCh38]
Chr2:50780102 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) single nucleotide variant Inborn genetic diseases [RCV002316996]|NRXN1-related disorder [RCV004535187]|Pitt-Hopkins-like syndrome 2 [RCV001081850]|not provided [RCV000712450] Chr2:50552658 [GRCh38]
Chr2:50779796 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.1531A>G (p.Thr511Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619656]|not provided [RCV000173731] Chr2:50552815 [GRCh38]
Chr2:50779953 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2332C>A (p.Leu778Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001325548]|not provided [RCV000174287] Chr2:50531242 [GRCh38]
Chr2:50758380 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=) single nucleotide variant Inborn genetic diseases [RCV002390418]|Pitt-Hopkins-like syndrome 2 [RCV001080670]|not provided [RCV000724283]|not specified [RCV000173732] Chr2:50553020 [GRCh38]
Chr2:50780158 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2008C>G (p.Pro670Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649742]|not provided [RCV000174043] Chr2:50538388 [GRCh38]
Chr2:50765526 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1843C>T (p.Leu615=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001086764]|not provided [RCV000724259] Chr2:50538553 [GRCh38]
Chr2:50765691 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2p16.3(chr2:50999032-51329577)x1 copy number loss See cases [RCV000133639] Chr2:50999032..51329577 [GRCh38]
Chr2:51226170..51556715 [GRCh37]
Chr2:51079674..51410219 [NCBI36]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2785C>T (p.Leu929Phe) single nucleotide variant not provided [RCV000174862] Chr2:50497427 [GRCh38]
Chr2:50724565 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2567G>A (p.Arg856Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001852132]|not provided [RCV000174863] Chr2:50497645 [GRCh38]
Chr2:50724783 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2502A>G (p.Gln834=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002516649]|not provided [RCV000174864] Chr2:50497710 [GRCh38]
Chr2:50724848 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
GRCh38/hg38 2p16.3(chr2:50856272-50915770)x1 copy number loss See cases [RCV000134155] Chr2:50856272..50915770 [GRCh38]
Chr2:51083410..51142908 [GRCh37]
Chr2:50936914..50996412 [NCBI36]
Chr2:2p16.3		 uncertain significance
GRCh38/hg38 2p16.3(chr2:50822507-50839440)x1 copy number loss See cases [RCV000134241] Chr2:50822507..50839440 [GRCh38]
Chr2:51049645..51066578 [GRCh37]
Chr2:50903149..50920082 [NCBI36]
Chr2:2p16.3		 benign
GRCh38/hg38 2p16.3(chr2:50822507-50894953)x1 copy number loss See cases [RCV000134242] Chr2:50822507..50894953 [GRCh38]
Chr2:51049645..51122091 [GRCh37]
Chr2:50903149..50975595 [NCBI36]
Chr2:2p16.3		 benign
GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1 copy number loss See cases [RCV000133939] Chr2:46806218..50565538 [GRCh38]
Chr2:47033357..50792676 [GRCh37]
Chr2:46886861..50646180 [NCBI36]
Chr2:2p21-16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50682627-51009921)x1 copy number loss See cases [RCV000134005] Chr2:50682627..51009921 [GRCh38]
Chr2:50909765..51237059 [GRCh37]
Chr2:50763269..51090563 [NCBI36]
Chr2:2p16.3		 uncertain significance
GRCh38/hg38 2p16.3(chr2:51009862-51155675)x1 copy number loss See cases [RCV000135318] Chr2:51009862..51155675 [GRCh38]
Chr2:51237000..51382813 [GRCh37]
Chr2:51090504..51236317 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50944985-51024360)x1 copy number loss See cases [RCV000135326] Chr2:50944985..51024360 [GRCh38]
Chr2:51172123..51251498 [GRCh37]
Chr2:51025627..51105002 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50498591-50710365)x1 copy number loss See cases [RCV000134952] Chr2:50498591..50710365 [GRCh38]
Chr2:50725729..50937503 [GRCh37]
Chr2:50579233..50791007 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50453657-50710365)x1 copy number loss See cases [RCV000134953] Chr2:50453657..50710365 [GRCh38]
Chr2:50680795..50937503 [GRCh37]
Chr2:50534299..50791007 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50915711-50999091)x1 copy number loss See cases [RCV000134980] Chr2:50915711..50999091 [GRCh38]
Chr2:51142849..51226229 [GRCh37]
Chr2:50996353..51079733 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50856272-50999091)x1 copy number loss See cases [RCV000135742] Chr2:50856272..50999091 [GRCh38]
Chr2:51083410..51226229 [GRCh37]
Chr2:50936914..51079733 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50999032-51155734)x1 copy number loss See cases [RCV000135658] Chr2:50999032..51155734 [GRCh38]
Chr2:51226170..51382872 [GRCh37]
Chr2:51079674..51236376 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50710306-50999091)x1 copy number loss See cases [RCV000135760] Chr2:50710306..50999091 [GRCh38]
Chr2:50937444..51226229 [GRCh37]
Chr2:50790948..51079733 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50754975-50999091)x1 copy number loss See cases [RCV000135575] Chr2:50754975..50999091 [GRCh38]
Chr2:50982113..51226229 [GRCh37]
Chr2:50835617..51079733 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50809966-51219735)x1 copy number loss See cases [RCV000135555] Chr2:50809966..51219735 [GRCh38]
Chr2:51037104..51446873 [GRCh37]
Chr2:50890608..51300377 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50716342-50801952)x1 copy number loss See cases [RCV000136003] Chr2:50716342..50801952 [GRCh38]
Chr2:50943480..51029090 [GRCh37]
Chr2:50796984..50882594 [NCBI36]
Chr2:2p16.3		 likely benign|uncertain significance
GRCh38/hg38 2p16.3(chr2:50665709-50856331)x1 copy number loss See cases [RCV000136914] Chr2:50665709..50856331 [GRCh38]
Chr2:50892847..51083469 [GRCh37]
Chr2:50746351..50936973 [NCBI36]
Chr2:2p16.3		 uncertain significance
GRCh38/hg38 2p16.3(chr2:50574983-50710365)x1 copy number loss See cases [RCV000137561] Chr2:50574983..50710365 [GRCh38]
Chr2:50802121..50937503 [GRCh37]
Chr2:50655625..50791007 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2		 uncertain significance
GRCh38/hg38 2p16.3(chr2:50999032-51087292)x1 copy number loss See cases [RCV000137251] Chr2:50999032..51087292 [GRCh38]
Chr2:51226170..51314430 [GRCh37]
Chr2:51079674..51167934 [NCBI36]
Chr2:2p16.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 2p16.3(chr2:50619962-50755034)x1 copy number loss See cases [RCV000137304] Chr2:50619962..50755034 [GRCh38]
Chr2:50847100..50982172 [GRCh37]
Chr2:50700604..50835676 [NCBI36]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.3364+3A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001852145]|not provided [RCV000175283] Chr2:50465439 [GRCh38]
Chr2:50692577 [GRCh37]
Chr2:2p16.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2p16.3(chr2:50860917-51029929)x1 copy number loss See cases [RCV000137783] Chr2:50860917..51029929 [GRCh38]
Chr2:51088055..51257067 [GRCh37]
Chr2:50941559..51110571 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50654953-50720666)x1 copy number loss See cases [RCV000138692] Chr2:50654953..50720666 [GRCh38]
Chr2:50882091..50947804 [GRCh37]
Chr2:50735595..50801308 [NCBI36]
Chr2:2p16.3		 likely benign|uncertain significance
GRCh38/hg38 2p16.3(chr2:50953423-51131743)x1 copy number loss See cases [RCV000138361] Chr2:50953423..51131743 [GRCh38]
Chr2:51180561..51358881 [GRCh37]
Chr2:51034065..51212385 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50751328-51301336)x1 copy number loss See cases [RCV000138563] Chr2:50751328..51301336 [GRCh38]
Chr2:50978466..51528474 [GRCh37]
Chr2:50831970..51381978 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50008168-50041168)x1 copy number loss See cases [RCV000138377] Chr2:50008168..50041168 [GRCh38]
Chr2:50235306..50268306 [GRCh37]
Chr2:50088810..50121810 [NCBI36]
Chr2:2p16.3		 likely benign|uncertain significance
GRCh38/hg38 2p16.3(chr2:50498526-50830659)x1 copy number loss See cases [RCV000138635] Chr2:50498526..50830659 [GRCh38]
Chr2:50725664..51057797 [GRCh37]
Chr2:50579168..50911301 [NCBI36]
Chr2:2p16.3		 uncertain significance
GRCh38/hg38 2p16.3(chr2:49910932-52462336)x1 copy number loss See cases [RCV000139317] Chr2:49910932..52462336 [GRCh38]
Chr2:50138070..52689474 [GRCh37]
Chr2:49991574..52542978 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50599412-50698758)x1 copy number loss See cases [RCV000139429] Chr2:50599412..50698758 [GRCh38]
Chr2:50826550..50925896 [GRCh37]
Chr2:50680054..50779400 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50931078-51009926)x3 copy number gain See cases [RCV000139311] Chr2:50931078..51009926 [GRCh38]
Chr2:51158216..51237064 [GRCh37]
Chr2:51011720..51090568 [NCBI36]
Chr2:2p16.3		 likely benign
GRCh38/hg38 2p16.3(chr2:50751318-50856339)x1 copy number loss See cases [RCV000139224] Chr2:50751318..50856339 [GRCh38]
Chr2:50978456..51083477 [GRCh37]
Chr2:50831960..50936981 [NCBI36]
Chr2:2p16.3		 likely benign|uncertain significance
GRCh38/hg38 2p16.3(chr2:50591217-50931162)x1 copy number loss See cases [RCV000138906] Chr2:50591217..50931162 [GRCh38]
Chr2:50818355..51158300 [GRCh37]
Chr2:50671859..51011804 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50555992-50579912)x1 copy number loss See cases [RCV000138945] Chr2:50555992..50579912 [GRCh38]
Chr2:50783130..50807050 [GRCh37]
Chr2:50636634..50660554 [NCBI36]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter) single nucleotide variant Obesity [RCV000787967]|Pitt-Hopkins-like syndrome 2 [RCV002466460]|Pitt-Hopkins-like syndrome 2 [RCV004796068]|not provided [RCV000522614] Chr2:50236836 [GRCh38]
Chr2:50463974 [GRCh37]
Chr2:2p16.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2p16.3(chr2:50587538-50730317)x1 copy number loss See cases [RCV000140117] Chr2:50587538..50730317 [GRCh38]
Chr2:50814676..50957455 [GRCh37]
Chr2:50668180..50810959 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50743524-50780885)x3 copy number gain See cases [RCV000140128] Chr2:50743524..50780885 [GRCh38]
Chr2:50970662..51008023 [GRCh37]
Chr2:50824166..50861527 [NCBI36]
Chr2:2p16.3		 benign
GRCh38/hg38 2p16.3(chr2:50856272-50882552)x1 copy number loss See cases [RCV000140129] Chr2:50856272..50882552 [GRCh38]
Chr2:51083410..51109690 [GRCh37]
Chr2:50936914..50963194 [NCBI36]
Chr2:2p16.3		 likely benign
GRCh38/hg38 2p16.3(chr2:50004126-50041370)x3 copy number gain See cases [RCV000140145] Chr2:50004126..50041370 [GRCh38]
Chr2:50231264..50268508 [GRCh37]
Chr2:50084768..50122012 [NCBI36]
Chr2:2p16.3		 likely benign
GRCh38/hg38 2p16.3(chr2:50584029-50642926)x1 copy number loss See cases [RCV000139903] Chr2:50584029..50642926 [GRCh38]
Chr2:50811167..50870064 [GRCh37]
Chr2:50664671..50723568 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50931103-50960020)x1 copy number loss See cases [RCV000139914] Chr2:50931103..50960020 [GRCh38]
Chr2:51158241..51187158 [GRCh37]
Chr2:51011745..51040662 [NCBI36]
Chr2:2p16.3		 uncertain significance
GRCh38/hg38 2p16.3(chr2:50691323-50780852)x1 copy number loss See cases [RCV000139529] Chr2:50691323..50780852 [GRCh38]
Chr2:50918461..51007990 [GRCh37]
Chr2:50771965..50861494 [NCBI36]
Chr2:2p16.3		 likely benign
GRCh38/hg38 2p16.3(chr2:50682627-51107991)x1 copy number loss See cases [RCV000141354] Chr2:50682627..51107991 [GRCh38]
Chr2:50909765..51335129 [GRCh37]
Chr2:50763269..51188633 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50265501-50274792)x1 copy number loss See cases [RCV000141045] Chr2:50265501..50274792 [GRCh38]
Chr2:50492639..50501930 [GRCh37]
Chr2:50346143..50355434 [NCBI36]
Chr2:2p16.3		 likely benign
GRCh38/hg38 2p16.3(chr2:50624294-51265729)x1 copy number loss See cases [RCV000140933] Chr2:50624294..51265729 [GRCh38]
Chr2:50851432..51492867 [GRCh37]
Chr2:50704936..51346371 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:49910893-49943628)x3 copy number gain See cases [RCV000141061] Chr2:49910893..49943628 [GRCh38]
Chr2:50138031..50170766 [GRCh37]
Chr2:49991535..50024270 [NCBI36]
Chr2:2p16.3		 likely benign
GRCh38/hg38 2p16.3(chr2:50794314-50801971)x1 copy number loss See cases [RCV000141074] Chr2:50794314..50801971 [GRCh38]
Chr2:51021452..51029109 [GRCh37]
Chr2:50874956..50882613 [NCBI36]
Chr2:2p16.3		 likely benign
GRCh38/hg38 2p16.3(chr2:50619962-51329577)x1 copy number loss See cases [RCV000140869] Chr2:50619962..51329577 [GRCh38]
Chr2:50847100..51556715 [GRCh37]
Chr2:50700604..51410219 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50827235-50953482)x1 copy number loss See cases [RCV000140747] Chr2:50827235..50953482 [GRCh38]
Chr2:51054373..51180620 [GRCh37]
Chr2:50907877..51034124 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p16.3(chr2:50654857-50720591)x1 copy number loss See cases [RCV000141454] Chr2:50654857..50720591 [GRCh38]
Chr2:50881995..50947729 [GRCh37]
Chr2:50735499..50801233 [NCBI36]
Chr2:2p16.3		 uncertain significance
GRCh38/hg38 2p16.3(chr2:50172113-50801952)x3 copy number gain See cases [RCV000142415] Chr2:50172113..50801952 [GRCh38]
Chr2:50399251..51029090 [GRCh37]
Chr2:50252755..50882594 [NCBI36]
Chr2:2p16.3		 uncertain significance
GRCh38/hg38 2p16.3(chr2:50974455-50999101)x1 copy number loss See cases [RCV000142478] Chr2:50974455..50999101 [GRCh38]
Chr2:51201593..51226239 [GRCh37]
Chr2:51055097..51079743 [NCBI36]
Chr2:2p16.3		 likely benign|uncertain significance
GRCh38/hg38 2p16.3(chr2:50839917-50873340)x1 copy number loss See cases [RCV000142950] Chr2:50839917..50873340 [GRCh38]
Chr2:51067055..51100478 [GRCh37]
Chr2:50920559..50953982 [NCBI36]
Chr2:2p16.3		 likely benign|uncertain significance
GRCh38/hg38 2p16.3(chr2:50794296-50839976)x1 copy number loss See cases [RCV000142872] Chr2:50794296..50839976 [GRCh38]
Chr2:51021434..51067114 [GRCh37]
Chr2:50874938..50920618 [NCBI36]
Chr2:2p16.3		 uncertain significance
GRCh38/hg38 2p16.3(chr2:48929614-50839499)x1 copy number loss See cases [RCV000143016] Chr2:48929614..50839499 [GRCh38]
Chr2:49156753..51066637 [GRCh37]
Chr2:49010257..50920141 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50915711-51283823)x1 copy number loss See cases [RCV000142614] Chr2:50915711..51283823 [GRCh38]
Chr2:51142849..51510961 [GRCh37]
Chr2:50996353..51364465 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50623553-50754975)x1 copy number loss See cases [RCV000142640] Chr2:50623553..50754975 [GRCh38]
Chr2:50850691..50982113 [GRCh37]
Chr2:50704195..50835617 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50734870-51033529)x1 copy number loss See cases [RCV000143148] Chr2:50734870..51033529 [GRCh38]
Chr2:50962008..51260667 [GRCh37]
Chr2:50815512..51114171 [NCBI36]
Chr2:2p16.3		 pathogenic
GRCh38/hg38 2p16.3(chr2:50839440-51033529)x1 copy number loss See cases [RCV000143151] Chr2:50839440..51033529 [GRCh38]
Chr2:51066578..51260667 [GRCh37]
Chr2:50920082..51114171 [NCBI36]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2827C>A (p.Leu943Ile) single nucleotide variant not specified [RCV000202871] Chr2:50497385 [GRCh38]
Chr2:50724523 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val) single nucleotide variant Inborn genetic diseases [RCV002316970]|NRXN1-related disorder [RCV004532729]|Pitt-Hopkins-like syndrome 2 [RCV000649744]|not provided [RCV000723794]|not specified [RCV000188230] Chr2:50538451 [GRCh38]
Chr2:50765589 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.1913A>G (p.Tyr638Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000807785]|not provided [RCV000153602] Chr2:50538483 [GRCh38]
Chr2:50765621 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1078A>G single nucleotide variant Inborn genetic diseases [RCV002316971]|NRXN1-related disorder [RCV004724934]|Pitt-Hopkins-like syndrome 2 [RCV000467253]|not provided [RCV001704115]|not specified [RCV000153604] Chr2:51026424 [GRCh38]
Chr2:51253562 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) single nucleotide variant Inborn genetic diseases [RCV002312998]|Intellectual disability [RCV001251857]|Pitt-Hopkins-like syndrome 2 [RCV000473936]|Pitt-Hopkins-like syndrome 2 [RCV000515306]|not provided [RCV000723758]|not specified [RCV000188273] Chr2:51027705 [GRCh38]
Chr2:51254843 [GRCh37]
Chr2:2p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.24C>T (p.Arg8=) single nucleotide variant Inborn genetic diseases [RCV002453617]|Pitt-Hopkins-like syndrome 2 [RCV001089109]|not provided [RCV000175677] Chr2:51028250 [GRCh38]
Chr2:51255388 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.518C>G (p.Ser173Trp) single nucleotide variant not provided [RCV000175678] Chr2:51027756 [GRCh38]
Chr2:51254894 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) single nucleotide variant Inborn genetic diseases [RCV002426841]|Pitt-Hopkins-like syndrome 2 [RCV000765689]|Pitt-Hopkins-like syndrome 2 [RCV001035816]|See cases [RCV002252019]|not provided [RCV000656993] Chr2:51028004 [GRCh38]
Chr2:51255142 [GRCh37]
Chr2:2p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.4128+4348_4128+12181del deletion Gestational diabetes mellitus uncontrolled [RCV000161211] Chr2:50041090..50048923 [GRCh38]
Chr2:50268228..50276061 [GRCh37]
Chr2:2p16.3		 not provided
NM_001330078.2(NRXN1):c.772+1024C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000792511]|not specified [RCV000192851] Chr2:51026478 [GRCh38]
Chr2:51253616 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.1749C>T (p.Asp583=) single nucleotide variant NRXN1-related disorder [RCV004737302]|Pitt-Hopkins-like syndrome 2 [RCV000232596]|not provided [RCV003407697]|not specified [RCV000193373] Chr2:50552597 [GRCh38]
Chr2:50779735 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=) single nucleotide variant History of neurodevelopmental disorder [RCV000719951]|Pitt-Hopkins-like syndrome 2 [RCV000866214]|not provided [RCV001589068]|not specified [RCV000193445] Chr2:49922220 [GRCh38]
Chr2:50149358 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3616A>G (p.Ile1206Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002517107]|not provided [RCV000767067]|not specified [RCV000193549] Chr2:50091425 [GRCh38]
Chr2:50318563 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.782A>G (p.Asn261Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001852207]|not provided [RCV000178151]|not specified [RCV001818434] Chr2:50925946 [GRCh38]
Chr2:51153084 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1424A>C (p.Asn475Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001206083]|not specified [RCV000193954] Chr2:50552922 [GRCh38]
Chr2:50780060 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4167C>G (p.Pro1389=) single nucleotide variant Inborn genetic diseases [RCV002317700]|Pitt-Hopkins-like syndrome 2 [RCV000558765]|not provided [RCV001705083]|not specified [RCV000194780] Chr2:49943753 [GRCh38]
Chr2:50170891 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.882C>T (p.Tyr294=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001080290]|not provided [RCV000724611]|not specified [RCV000188224] Chr2:50623566 [GRCh38]
Chr2:50850704 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p16.3(chr2:51148483-51314430)x1 copy number loss See cases [RCV000240056] Chr2:51148483..51314430 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2537A>C (p.Asn846Thr) single nucleotide variant not specified [RCV000193253] Chr2:50497675 [GRCh38]
Chr2:50724813 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+9del deletion NRXN1-related disorder [RCV004530137]|Pitt-Hopkins-like syndrome 2 [RCV001400508]|not specified [RCV000194609] Chr2:51027493 [GRCh38]
Chr2:51254631 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2075G>A (p.Arg692Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001373960]|not specified [RCV000195090] Chr2:50538321 [GRCh38]
Chr2:50765459 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4338T>C (p.Leu1446=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649757]|not specified [RCV000188222] Chr2:49922130 [GRCh38]
Chr2:50149268 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.-28A>C single nucleotide variant not specified [RCV000188226] Chr2:51028301 [GRCh38]
Chr2:51255439 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3365-109992C>T single nucleotide variant not specified [RCV000188238] Chr2:50346962 [GRCh38]
Chr2:50574100 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4202G>A (p.Ser1401Asn) single nucleotide variant not provided [RCV000188241] Chr2:49943718 [GRCh38]
Chr2:50170856 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.2(NRXN1):c.949G>A (p.Ala317Thr) single nucleotide variant not specified [RCV000188243] Chr2:50623598 [GRCh38]
Chr2:50850736 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1202C>T (p.Thr401Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001055962]|not provided [RCV000188244] Chr2:50620140 [GRCh38]
Chr2:50847278 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.23G>T (p.Arg8Leu) single nucleotide variant not provided [RCV000188245] Chr2:51028251 [GRCh38]
Chr2:51255389 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.32G>A (p.Cys11Tyr) single nucleotide variant Inborn genetic diseases [RCV002321759]|Pitt-Hopkins-like syndrome 2 [RCV001315923]|not provided [RCV000188246] Chr2:51028242 [GRCh38]
Chr2:51255380 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1444A>T (p.Ile482Phe) single nucleotide variant not provided [RCV000188247] Chr2:50552902 [GRCh38]
Chr2:50780040 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.2(NRXN1):c.1628C>G (p.Ser543Cys) single nucleotide variant not specified [RCV000188248] Chr2:50552838 [GRCh38]
Chr2:50779976 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1592A>G (p.Lys531Arg) single nucleotide variant Inborn genetic diseases [RCV004020278]|not provided [RCV000766529]|not specified [RCV000188251] Chr2:50552754 [GRCh38]
Chr2:50779892 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1798G>T (p.Ala600Ser) single nucleotide variant not provided [RCV000188253] Chr2:50538598 [GRCh38]
Chr2:50765736 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1822G>A (p.Asp608Asn) single nucleotide variant not provided [RCV000188254] Chr2:50538574 [GRCh38]
Chr2:50765712 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2025A>C (p.Glu675Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001919702] Chr2:50538371 [GRCh38]
Chr2:50765509 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.208T>C (p.Phe70Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001852478]|not provided [RCV000188259] Chr2:51028066 [GRCh38]
Chr2:51255204 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2228C>A (p.Ser743Tyr) single nucleotide variant not provided [RCV000188262] Chr2:50531346 [GRCh38]
Chr2:50758484 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.353G>A (p.Arg118His) single nucleotide variant not provided [RCV000188266] Chr2:51027921 [GRCh38]
Chr2:51255059 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2564G>A (p.Arg855Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000519744] Chr2:50497648 [GRCh38]
Chr2:50724786 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2566C>T (p.Arg856Trp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001857625]|not provided [RCV000188278] Chr2:50497646 [GRCh38]
Chr2:50724784 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2570A>G (p.Tyr857Cys) single nucleotide variant not provided [RCV000188279] Chr2:50497642 [GRCh38]
Chr2:50724780 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2597T>C (p.Ile866Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000538380]|Pitt-Hopkins-like syndrome 2 [RCV002492865]|not provided [RCV000188280] Chr2:50497615 [GRCh38]
Chr2:50724753 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2659G>A (p.Asp887Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001324983]|not provided [RCV000188282] Chr2:50497553 [GRCh38]
Chr2:50724691 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2815G>A (p.Asp939Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001857626]|not provided [RCV000188284] Chr2:50497397 [GRCh38]
Chr2:50724535 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2979A>G (p.Ile993Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619658]|not provided [RCV000188285] Chr2:50495996 [GRCh38]
Chr2:50723134 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.2(NRXN1):c.3332T>C (p.Phe1111Ser) single nucleotide variant not specified [RCV000188289] Chr2:50472330 [GRCh38]
Chr2:50699468 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3254C>T (p.Thr1085Ile) single nucleotide variant Inborn genetic diseases [RCV002453694]|Pitt-Hopkins-like syndrome 2 [RCV000817752]|not provided [RCV000188290] Chr2:50465552 [GRCh38]
Chr2:50692690 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4494_4496del (p.Lys1499del) deletion Pitt-Hopkins-like syndrome 2 [RCV003619659]|not specified [RCV000188303] Chr2:49921972..49921974 [GRCh38]
Chr2:50149110..50149112 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1400_1401inv (p.Gly467Val) inversion Pitt-Hopkins-like syndrome 2 [RCV001852479]|not specified [RCV000188304] Chr2:50552945..50552946 [GRCh38]
Chr2:50780083..50780084 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2888del (p.His963fs) deletion not provided [RCV000188305] Chr2:50496087 [GRCh38]
Chr2:50723225 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.1292G>A (p.Ser431Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000626016]|not provided [RCV000188307] Chr2:50620050 [GRCh38]
Chr2:50847188 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2532C>G (p.Phe844Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005089943]|not provided [RCV000188314] Chr2:50497680 [GRCh38]
Chr2:50724818 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109930G>T single nucleotide variant Inborn genetic diseases [RCV002312579]|not provided [RCV004708046]|not specified [RCV000127253] Chr2:50346900 [GRCh38]
Chr2:50574038 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3365-109893G>A single nucleotide variant not specified [RCV000127254] Chr2:50346863 [GRCh38]
Chr2:50574001 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3365-109830G>A single nucleotide variant Inborn genetic diseases [RCV002390289]|NRXN1-related disorder [RCV004544277]|not specified [RCV000127255] Chr2:50346800 [GRCh38]
Chr2:50573938 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.*18G>C single nucleotide variant not specified [RCV000188223] Chr2:49921926 [GRCh38]
Chr2:50149064 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.-21C>A single nucleotide variant not specified [RCV000188227] Chr2:51028294 [GRCh38]
Chr2:51255432 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.1833T>C (p.Asp611=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000864874]|not specified [RCV000188229] Chr2:50538563 [GRCh38]
Chr2:50765701 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.2037G>A (p.Pro679=) single nucleotide variant Inborn genetic diseases [RCV002426908]|NRXN1-related disorder [RCV004737291]|Pitt-Hopkins-like syndrome 2 [RCV001078519]|not provided [RCV000726803]|not specified [RCV000188231] Chr2:50538359 [GRCh38]
Chr2:50765497 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2193C>T (p.Leu731=) single nucleotide variant Inborn genetic diseases [RCV002317126]|Pitt-Hopkins-like syndrome 2 [RCV001392135]|not specified [RCV000188232] Chr2:50531381 [GRCh38]
Chr2:50758519 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.2274C>A (p.Thr758=) single nucleotide variant Inborn genetic diseases [RCV002317127]|Pitt-Hopkins-like syndrome 2 [RCV001488819]|not specified [RCV000188233] Chr2:50531300 [GRCh38]
Chr2:50758438 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.2375-20C>G single nucleotide variant not specified [RCV000188234] Chr2:50506637 [GRCh38]
Chr2:50733775 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=) single nucleotide variant Inborn genetic diseases [RCV002317128]|Pitt-Hopkins-like syndrome 2 [RCV001088099]|not provided [RCV000727636]|not specified [RCV000188235] Chr2:50497440 [GRCh38]
Chr2:50724578 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=) single nucleotide variant Inborn genetic diseases [RCV002321758]|Pitt-Hopkins-like syndrome 2 [RCV001087851]|not provided [RCV000477294]|not specified [RCV000188236] Chr2:50472452 [GRCh38]
Chr2:50699590 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=) single nucleotide variant Inborn genetic diseases [RCV002317129]|Pitt-Hopkins-like syndrome 2 [RCV001084649]|not provided [RCV000585295]|not specified [RCV000188237] Chr2:50472341 [GRCh38]
Chr2:50699479 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3365-109703A>T single nucleotide variant not specified [RCV000188239] Chr2:50346673 [GRCh38]
Chr2:50573811 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.781A>G (p.Asn261Asp) single nucleotide variant Inborn genetic diseases [RCV003165423]|Pitt-Hopkins-like syndrome 2 [RCV000457101]|not provided [RCV000725747] Chr2:50925947 [GRCh38]
Chr2:51153085 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4274G>A (p.Arg1425Gln) single nucleotide variant Inborn genetic diseases [RCV002327013]|Pitt-Hopkins-like syndrome 2 [RCV003619657]|not provided [RCV000188242] Chr2:49922194 [GRCh38]
Chr2:50149332 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1566C>T (p.Gly522=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000695977]|not provided [RCV000188249] Chr2:50552780 [GRCh38]
Chr2:50779918 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.1589C>A (p.Ala530Asp) single nucleotide variant not provided [RCV000188250] Chr2:50552757 [GRCh38]
Chr2:50779895 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1778C>T (p.Thr593Met) single nucleotide variant Inborn genetic diseases [RCV004955310]|Pitt-Hopkins-like syndrome 2 [RCV000797439]|not provided [RCV000188252] Chr2:50538618 [GRCh38]
Chr2:50765756 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.302C>G (p.Ala101Gly) single nucleotide variant Inborn genetic diseases [RCV002317130]|Pitt-Hopkins-like syndrome 2 [RCV000764447]|Pitt-Hopkins-like syndrome 2 [RCV000798181]|not provided [RCV000188256] Chr2:51027972 [GRCh38]
Chr2:51255110 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2036C>T (p.Pro679Leu) single nucleotide variant Inborn genetic diseases [RCV002317131]|Pitt-Hopkins-like syndrome 2 [RCV000799433]|not provided [RCV001705027]|not specified [RCV000188257] Chr2:50538360 [GRCh38]
Chr2:50765498 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2110G>A (p.Gly704Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000819138]|not provided [RCV000188258] Chr2:50538286 [GRCh38]
Chr2:50765424 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.219G>C (p.Glu73Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001060695]|not provided [RCV000188260] Chr2:51028055 [GRCh38]
Chr2:51255193 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His) single nucleotide variant Inborn genetic diseases [RCV002317132]|Pitt-Hopkins-like syndrome 2 [RCV000764443]|Pitt-Hopkins-like syndrome 2 [RCV000810957]|not provided [RCV001705028]|not specified [RCV000188261] Chr2:50531384 [GRCh38]
Chr2:50758522 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2317G>A (p.Ala773Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001324119]|not provided [RCV000188263] Chr2:50531257 [GRCh38]
Chr2:50758395 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.262C>G (p.Arg88Gly) single nucleotide variant Complex neurodevelopmental disorder [RCV005416269]|Inborn genetic diseases [RCV002426909]|Pitt-Hopkins-like syndrome 2 [RCV000765690]|Pitt-Hopkins-like syndrome 2 [RCV003509510]|not provided [RCV000188264] Chr2:51028012 [GRCh38]
Chr2:51255150 [GRCh37]
Chr2:2p16.3		 uncertain significance|not provided
NM_001330078.2(NRXN1):c.316G>A (p.Asp106Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001041325]|not specified [RCV000500819] Chr2:51027958 [GRCh38]
Chr2:51255096 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.374A>G (p.Asn125Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000701447]|not provided [RCV000188267] Chr2:51027900 [GRCh38]
Chr2:51255038 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.476C>T (p.Pro159Leu) single nucleotide variant Inborn genetic diseases [RCV002517003]|Pitt-Hopkins-like syndrome 2 [RCV000824466]|not provided [RCV000188268] Chr2:51027798 [GRCh38]
Chr2:51254936 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.497C>T (p.Ala166Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001908490] Chr2:51027777 [GRCh38]
Chr2:51254915 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2375-7T>A single nucleotide variant not provided [RCV000188270] Chr2:50506624 [GRCh38]
Chr2:50733762 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) single nucleotide variant Inborn genetic diseases [RCV002317133]|Pitt-Hopkins-like syndrome 2 [RCV000515422]|Pitt-Hopkins-like syndrome 2 [RCV000706193]|not provided [RCV000728599]|not specified [RCV000188271] Chr2:50506533 [GRCh38]
Chr2:50733671 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2497+3A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000802683]|not provided [RCV000725752]|not specified [RCV000188272] Chr2:50506492 [GRCh38]
Chr2:50733630 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.570C>A (p.Asn190Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000818582]|not provided [RCV000188274] Chr2:51027704 [GRCh38]
Chr2:51254842 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) single nucleotide variant Inborn genetic diseases [RCV002314734]|Pitt-Hopkins-like syndrome 2 [RCV000465496]|Pitt-Hopkins-like syndrome 2 [RCV000764442]|not provided [RCV000513409]|not specified [RCV000188275] Chr2:50497679 [GRCh38]
Chr2:50724817 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.749T>A (p.Phe250Tyr) single nucleotide variant Inborn genetic diseases [RCV002517004]|Pitt-Hopkins-like syndrome 2 [RCV001051150]|not provided [RCV000766527]|not specified [RCV000188276] Chr2:51027525 [GRCh38]
Chr2:51254663 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2785C>A (p.Leu929Ile) single nucleotide variant not provided [RCV000188283] Chr2:50497427 [GRCh38]
Chr2:50724565 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3032C>T (p.Thr1011Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000552360]|not provided [RCV000188286] Chr2:50495943 [GRCh38]
Chr2:50723081 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.637G>A (p.Gly213Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000813276]|not provided [RCV000766526]|not specified [RCV000188287] Chr2:51027637 [GRCh38]
Chr2:51254775 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.739C>G (p.Arg247Gly) single nucleotide variant Intellectual disability [RCV001257611]|Pitt-Hopkins-like syndrome 2 [RCV000792500]|not provided [RCV000188288] Chr2:51027535 [GRCh38]
Chr2:51254673 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3281A>G (p.Asn1094Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000529852]|not provided [RCV000188291] Chr2:50465525 [GRCh38]
Chr2:50692663 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1040A>T single nucleotide variant Inborn genetic diseases [RCV002314735]|Pitt-Hopkins-like syndrome 2 [RCV000691824]|not provided [RCV001705029] Chr2:51026462 [GRCh38]
Chr2:51253600 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.772+1094A>C single nucleotide variant Inborn genetic diseases [RCV002433849]|Pitt-Hopkins-like syndrome 2 [RCV000798588] Chr2:51026408 [GRCh38]
Chr2:51253546 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3595G>A (p.Ala1199Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000559566]|not provided [RCV001721210] Chr2:50091446 [GRCh38]
Chr2:50318584 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3365-109939C>T single nucleotide variant Inborn genetic diseases [RCV002317134]|Pitt-Hopkins-like syndrome 2 [RCV000764441]|Pitt-Hopkins-like syndrome 2 [RCV001484117]|not provided [RCV000487952] Chr2:50346909 [GRCh38]
Chr2:50574047 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3407C>T (p.Thr1136Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000689247]|Pitt-Hopkins-like syndrome 2 [RCV000764440] Chr2:50236928 [GRCh38]
Chr2:50464066 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3479A>G (p.Gln1160Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002514023]|not provided [RCV000188299] Chr2:50236856 [GRCh38]
Chr2:50463994 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3542A>G (p.His1181Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000764439]|not provided [RCV000188300] Chr2:50236793 [GRCh38]
Chr2:50463931 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3905A>G (p.Tyr1302Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001857627]|not provided [RCV000188301] Chr2:50053494 [GRCh38]
Chr2:50280632 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4015A>C (p.Thr1339Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001345252] Chr2:50053384 [GRCh38]
Chr2:50280522 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4237G>A (p.Gly1413Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000534805]|Pitt-Hopkins-like syndrome 2 [RCV002478659]|not provided [RCV002478658]|not specified [RCV000188306] Chr2:49922231 [GRCh38]
Chr2:50149369 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1541A>G (p.Asn514Ser) single nucleotide variant not provided [RCV000188308] Chr2:50552805 [GRCh38]
Chr2:50779943 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1978G>A (p.Ala660Thr) single nucleotide variant Inborn genetic diseases [RCV002314736]|Pitt-Hopkins-like syndrome 2 [RCV000689938]|Pitt-Hopkins-like syndrome 2 [RCV000764444]|not provided [RCV000188309] Chr2:50538418 [GRCh38]
Chr2:50765556 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.407A>G (p.Lys136Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001223877]|not provided [RCV000188311] Chr2:51027867 [GRCh38]
Chr2:51255005 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2422G>A (p.Glu808Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001852480]|not provided [RCV000188312] Chr2:50506570 [GRCh38]
Chr2:50733708 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.587C>T (p.Pro196Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000815563]|not provided [RCV001705030] Chr2:51027687 [GRCh38]
Chr2:51254825 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.4004C>T (p.Thr1335Ile) single nucleotide variant Inborn genetic diseases [RCV000190702]|Pitt-Hopkins-like syndrome 2 [RCV001080620]|not provided [RCV000656931]|not specified [RCV000188315] Chr2:50053395 [GRCh38]
Chr2:50280533 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.4011G>C (p.Glu1337Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000764438]|Pitt-Hopkins-like syndrome 2 [RCV001088709]|not provided [RCV000725076] Chr2:50053388 [GRCh38]
Chr2:50280526 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3365-110131T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000209863]|not provided [RCV001574910] Chr2:50347101 [GRCh38]
Chr2:50574239 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225398] Chr2:50786446..51225851 [NCBI36]
Chr2:2p16.3		 uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225410] Chr2:51088030..51325532 [NCBI36]
Chr2:2p16.3		 uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225430] Chr2:50885246..51112391 [NCBI36]
Chr2:2p16.3		 uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225516] Chr2:50862736..51080758 [NCBI36]
Chr2:2p16.3		 uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225540] Chr2:50968208..51120644 [NCBI36]
Chr2:2p16.3		 uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225620] Chr2:50882166..51255180 [NCBI36]
Chr2:2p16.3		 likely pathogenic|uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225633] Chr2:51033960..51299436 [NCBI36]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.724G>C (p.Val242Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000228333] Chr2:51027550 [GRCh38]
Chr2:51254688 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2829A>G (p.Leu943=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000227099] Chr2:50497383 [GRCh38]
Chr2:50724521 [GRCh37]
Chr2:2p16.3		 likely benign
GRCh37/hg19 2p16.3(chr2:51083410-51382872)x1 copy number loss See cases [RCV000239936] Chr2:51083410..51382872 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.3364+13144G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000626017] Chr2:50452298 [GRCh38]
Chr2:50679436 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3654G>C (p.Thr1218=) single nucleotide variant not specified [RCV000600285] Chr2:50091387 [GRCh38]
Chr2:50318525 [GRCh37]
Chr2:2p16.3		 likely benign
GRCh37/hg19 2p16.3(chr2:50516550-51259738)x1 copy number loss See cases [RCV000239923] Chr2:50516550..51259738 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2414A>G (p.Asn805Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001853671]|not provided [RCV000519365] Chr2:50506578 [GRCh38]
Chr2:50733716 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2144-4C>A single nucleotide variant not specified [RCV000605389] Chr2:50531434 [GRCh38]
Chr2:50758572 [GRCh37]
Chr2:2p16.3		 likely benign
GRCh37/hg19 2p16.3(chr2:51148483-51259200)x1 copy number loss See cases [RCV000240363] Chr2:51148483..51259200 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.1850G>C (p.Gly617Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003766972]|not provided [RCV000519372] Chr2:50538546 [GRCh38]
Chr2:50765684 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.1(NRXN1):c.-1461_-1452dupCTCTCTCTCT microsatellite Pitt-Hopkins-like syndrome [RCV000280832]|not provided [RCV003418057] Chr2:51032510..51032511 [GRCh38]
Chr2:51259648..51259649 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.252G>A (p.Thr84=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001079005]|not provided [RCV000304707] Chr2:51028022 [GRCh38]
Chr2:51255160 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.*1524T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000259315] Chr2:49920420 [GRCh38]
Chr2:50147558 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3364+9C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000270547] Chr2:50465433 [GRCh38]
Chr2:50692571 [GRCh37]
Chr2:2p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.*2766A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000281477] Chr2:49919178 [GRCh38]
Chr2:50146316 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_138735.4(NRXN1):c.49[5] (p.Gly17[5]) microsatellite Inborn genetic diseases [RCV002311408]|NRXN1-related disorder [RCV004535402]|not provided [RCV001711860]|not specified [RCV000278186] Chr2:50346871..50346885 [GRCh38]
Chr2:50574010 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.1288G>A (p.Val430Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001351650]|not provided [RCV000278241] Chr2:50620054 [GRCh38]
Chr2:50847192 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.315C>T (p.Ala105=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000261922]|not provided [RCV003418055] Chr2:51027959 [GRCh38]
Chr2:51255097 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.*573A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000261858] Chr2:49921371 [GRCh38]
Chr2:50148509 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.609_610delinsCA (p.Lys203_Leu204delinsAsnMet) indel Pitt-Hopkins-like syndrome 2 [RCV001057033]|not provided [RCV000281400] Chr2:51027664..51027665 [GRCh38]
Chr2:51254802..51254803 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.609G>C (p.Lys203Asn) single nucleotide variant Inborn genetic diseases [RCV002356370]|Pitt-Hopkins-like syndrome 2 [RCV001859569]|not provided [RCV000315312] Chr2:51027665 [GRCh38]
Chr2:51254803 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2249G>A (p.Arg750His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001855131]|not provided [RCV000287218] Chr2:50531325 [GRCh38]
Chr2:50758463 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-644A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000275652] Chr2:51028917 [GRCh38]
Chr2:51256055 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3103A>G (p.Thr1035Ala) single nucleotide variant Inborn genetic diseases [RCV004021228]|Pitt-Hopkins-like syndrome 2 [RCV000817074]|not provided [RCV000726048] Chr2:50472439 [GRCh38]
Chr2:50699577 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1730A>G (p.His577Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003765625]|not provided [RCV000395113] Chr2:50552616 [GRCh38]
Chr2:50779754 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2222A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000265322] Chr2:49919722 [GRCh38]
Chr2:50146860 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.2(NRXN1):c.-1452_-1447delTTTCTT deletion Pitt-Hopkins-like syndrome [RCV000265591] Chr2:51032505..51032510 [GRCh38]
Chr2:51259643..51259648 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-883T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000276312]|not provided [RCV000830073] Chr2:51029156 [GRCh38]
Chr2:51256294 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.*383A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000277013] Chr2:49921561 [GRCh38]
Chr2:50148699 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3403A>G (p.Ile1135Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001303278]|not provided [RCV000361626] Chr2:50236932 [GRCh38]
Chr2:50464070 [GRCh37]
Chr2:2p16.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3245-2A>G single nucleotide variant not provided [RCV000397801] Chr2:50465563 [GRCh38]
Chr2:50692701 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.610C>A (p.Leu204Met) single nucleotide variant Inborn genetic diseases [RCV002356369]|not provided [RCV000401095] Chr2:51027664 [GRCh38]
Chr2:51254802 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.1(NRXN1):c.-1455_-1452dupCTCT microsatellite Pitt-Hopkins-like syndrome [RCV000266901] Chr2:51032510..51032511 [GRCh38]
Chr2:51259648..51259649 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.2(NRXN1):c.-1255C>G single nucleotide variant Pitt-Hopkins-like syndrome [RCV000278307] Chr2:51032314 [GRCh38]
Chr2:51259452 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_138735.4(NRXN1):c.49GGC[7] (p.Gly17[7]) microsatellite Inborn genetic diseases [RCV002311399]|NRXN1-related disorder [RCV004542972]|not provided [RCV001711849]|not specified [RCV000366083] Chr2:50346871..50346879 [GRCh38]
Chr2:50574010 [GRCh37]
Chr2:2p16.3		 benign|likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2698A>C (p.Arg900=) single nucleotide variant Inborn genetic diseases [RCV002436204]|Pitt-Hopkins-like syndrome 2 [RCV000267729] Chr2:50497514 [GRCh38]
Chr2:50724652 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.1286C>T (p.Pro429Leu) single nucleotide variant not provided [RCV000266060] Chr2:50620056 [GRCh38]
Chr2:50847194 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11]) microsatellite Inborn genetic diseases [RCV002317802]|NRXN1-related disorder [RCV004543007]|Pitt-Hopkins-like syndrome 2 [RCV001080228]|Pitt-Hopkins-like syndrome 2 [RCV003227737]|not provided [RCV000266728] Chr2:50346872 [GRCh38]
Chr2:50574008..50574009 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2498-8T>C single nucleotide variant not provided [RCV000368014] Chr2:50497722 [GRCh38]
Chr2:50724860 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*3278T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000268601] Chr2:49918666 [GRCh38]
Chr2:50145804 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*98A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000268658]|not provided [RCV004694570] Chr2:49921846 [GRCh38]
Chr2:50148984 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2535C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000279890] Chr2:49919409 [GRCh38]
Chr2:50146547 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.2(NRXN1):c.-1381G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000268953] Chr2:51032440 [GRCh38]
Chr2:51259578 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2375-10T>A single nucleotide variant not provided [RCV000489238] Chr2:50506627 [GRCh38]
Chr2:50733765 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.417G>A (p.Glu139=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000548362]|not provided [RCV001618731] Chr2:51027857 [GRCh38]
Chr2:51254995 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.2526G>A (p.Leu842=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000525947] Chr2:50497686 [GRCh38]
Chr2:50724824 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2713G>A (p.Asp905Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000531661]|not provided [RCV001799683] Chr2:50497499 [GRCh38]
Chr2:50724637 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2143+76A>G single nucleotide variant not provided [RCV001566796] Chr2:50538177 [GRCh38]
Chr2:50765315 [GRCh37]
Chr2:2p16.3		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001330078.2(NRXN1):c.2120A>C (p.Tyr707Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001141663]|not provided [RCV000489835] Chr2:50538276 [GRCh38]
Chr2:50765414 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.339C>T (p.Ala113=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001408122]|not provided [RCV000488194] Chr2:51027935 [GRCh38]
Chr2:51255073 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2247G>C (p.Gln749His) single nucleotide variant not provided [RCV003315032] Chr2:50531327 [GRCh38]
Chr2:50758465 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2006A>T (p.Lys669Met) single nucleotide variant Inborn genetic diseases [RCV003267785] Chr2:50538390 [GRCh38]
Chr2:50765528 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*941dup duplication Pitt-Hopkins-like syndrome [RCV000302239] Chr2:49921002..49921003 [GRCh38]
Chr2:50148140..50148141 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.*1201AC[20] microsatellite Pitt-Hopkins-like syndrome [RCV000330103] Chr2:49920698..49920703 [GRCh38]
Chr2:50147836..50147841 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.1(NRXN1):c.-1475_-1474insACTCTC microsatellite Pitt-Hopkins-like syndrome [RCV000345033] Chr2:51032533..51032534 [GRCh38]
Chr2:51259671..51259672 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.1(NRXN1):c.-1453_-1452dupCT microsatellite Pitt-Hopkins-like syndrome [RCV000380036] Chr2:51032510..51032511 [GRCh38]
Chr2:51259648..51259649 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*967_*970dup duplication Pitt-Hopkins-like syndrome [RCV000398715] Chr2:49920973..49920974 [GRCh38]
Chr2:50148111..50148112 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.-422C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000398779] Chr2:51028695 [GRCh38]
Chr2:51255833 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-557C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000399122] Chr2:51028830 [GRCh38]
Chr2:51255968 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-1011G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000291983] Chr2:51032070 [GRCh38]
Chr2:51259208 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-747C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000330703] Chr2:51029020 [GRCh38]
Chr2:51256158 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2373G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000362933] Chr2:49919571 [GRCh38]
Chr2:50146709 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-951T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000381367]|not provided [RCV004708646] Chr2:51032010 [GRCh38]
Chr2:51259148 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.*814G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000399645] Chr2:49921130 [GRCh38]
Chr2:50148268 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2384del deletion Pitt-Hopkins-like syndrome [RCV000400472] Chr2:49919560 [GRCh38]
Chr2:50146698 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2387_*2389dup duplication Pitt-Hopkins-like syndrome [RCV000292815] Chr2:49919554..49919555 [GRCh38]
Chr2:50146692..50146693 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-232T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000347128]|not provided [RCV004694572] Chr2:51028505 [GRCh38]
Chr2:51255643 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.2(NRXN1):c.-1373C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000363612] Chr2:51032432 [GRCh38]
Chr2:51259570 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*110G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649755]|not provided [RCV001672583] Chr2:49921834 [GRCh38]
Chr2:50148972 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.-217C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000381980] Chr2:51028490 [GRCh38]
Chr2:51255628 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.-453T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000304851] Chr2:51028726 [GRCh38]
Chr2:51255864 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*1327C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000316854]|not provided [RCV004708645] Chr2:49920617 [GRCh38]
Chr2:50147755 [GRCh37]
Chr2:2p16.3		 benign
NM_001135659.1(NRXN1):c.-1457_-1452dupCTCTCT microsatellite Pitt-Hopkins-like syndrome [RCV000317391]|not provided [RCV004694573] Chr2:51032510..51032511 [GRCh38]
Chr2:51259648..51259649 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*319T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000332103] Chr2:49921625 [GRCh38]
Chr2:50148763 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-209A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000332175] Chr2:51028482 [GRCh38]
Chr2:51255620 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.*1195A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000347611] Chr2:49920749 [GRCh38]
Chr2:50147887 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.752G>A (p.Arg251His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000364833]|not provided [RCV000728207] Chr2:51027522 [GRCh38]
Chr2:51254660 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.2(NRXN1):c.-1454_-1451TCTT[2] microsatellite Pitt-Hopkins-like syndrome [RCV000364932] Chr2:51032500..51032503 [GRCh38]
Chr2:51259638..51259641 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.1(NRXN1):c.-1457_-1452delCTCTCT microsatellite Pitt-Hopkins-like syndrome [RCV000293632]|not provided [RCV004694575] Chr2:51032511..51032516 [GRCh38]
Chr2:51259649..51259654 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2286C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000305318] Chr2:49919658 [GRCh38]
Chr2:50146796 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*1911G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000318011]|not provided [RCV004708644] Chr2:49920033 [GRCh38]
Chr2:50147171 [GRCh37]
Chr2:2p16.3		 benign
NM_001135659.2(NRXN1):c.-1310G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000348328] Chr2:51032369 [GRCh38]
Chr2:51259507 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1163C>T (p.Thr388Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000348696] Chr2:50620179 [GRCh38]
Chr2:50847317 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3237A>G (p.Gly1079=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000366377] Chr2:50472305 [GRCh38]
Chr2:50699443 [GRCh37]
Chr2:2p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001135659.2(NRXN1):c.-1103T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000283643] Chr2:51032162 [GRCh38]
Chr2:51259300 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.2(NRXN1):c.-1455C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000306400] Chr2:51032514 [GRCh38]
Chr2:51259652 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*385G>A single nucleotide variant Pitt-Hopkins-like syndrome [RCV000366986] Chr2:49921559 [GRCh38]
Chr2:50148697 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-282G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000284000] Chr2:51028555 [GRCh38]
Chr2:51255693 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2672_*2675dup duplication Pitt-Hopkins-like syndrome [RCV000320127]|not provided [RCV004694568] Chr2:49919268..49919269 [GRCh38]
Chr2:50146406..50146407 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4060A>T (p.Thr1354Ser) single nucleotide variant Inborn genetic diseases [RCV002328862]|Pitt-Hopkins-like syndrome 2 [RCV000649756]|Pitt-Hopkins-like syndrome [RCV000335433]|not provided [RCV001582981] Chr2:50053339 [GRCh38]
Chr2:50280477 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.*2384dup duplication Pitt-Hopkins-like syndrome [RCV000350199]|not provided [RCV004694569] Chr2:49919559..49919560 [GRCh38]
Chr2:50146697..50146698 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3552G>C (p.Gln1184His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000350502] Chr2:50091489 [GRCh38]
Chr2:50318627 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.1(NRXN1):c.-1463_-1452delCTCTCTCTCTCT microsatellite Pitt-Hopkins-like syndrome [RCV000350915]|not provided [RCV004694576] Chr2:51032511..51032522 [GRCh38]
Chr2:51259649..51259660 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*1201AC[18] microsatellite Pitt-Hopkins-like syndrome [RCV000387012] Chr2:49920698..49920707 [GRCh38]
Chr2:50147836..50147845 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-193C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000295876]|not provided [RCV004694571] Chr2:51028466 [GRCh38]
Chr2:51255604 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*1201AC[25] microsatellite Pitt-Hopkins-like syndrome [RCV000296123] Chr2:49920697..49920698 [GRCh38]
Chr2:50147835..50147836 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.2(NRXN1):c.-1460_-1451delTCTCTCTCTT deletion Pitt-Hopkins-like syndrome [RCV000320825]|not provided [RCV003418056] Chr2:51032507..51032516 [GRCh38]
Chr2:51259645..51259654 [GRCh37]
Chr2:2p16.3		 benign|uncertain significance
NM_001330078.2(NRXN1):c.*3123C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000321383] Chr2:49918821 [GRCh38]
Chr2:50145959 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2514A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000351275] Chr2:49919430 [GRCh38]
Chr2:50146568 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3384T>C (p.Phe1128=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000369791]|not provided [RCV001718712] Chr2:50236951 [GRCh38]
Chr2:50464089 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.*1201AC[24] microsatellite Pitt-Hopkins-like syndrome [RCV000388078] Chr2:49920697..49920698 [GRCh38]
Chr2:50147835..50147836 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-813A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000370874] Chr2:51029086 [GRCh38]
Chr2:51256224 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3532C>A (p.Leu1178Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000390224]|not provided [RCV002261073] Chr2:50236803 [GRCh38]
Chr2:50463941 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1760-13C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000337793] Chr2:50538649 [GRCh38]
Chr2:50765787 [GRCh37]
Chr2:2p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001135659.2(NRXN1):c.-1263G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000338021] Chr2:51032322 [GRCh38]
Chr2:51259460 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.1(NRXN1):c.-1453_-1452delCT microsatellite Pitt-Hopkins-like syndrome [RCV000338168]|not provided [RCV004694574] Chr2:51032511..51032512 [GRCh38]
Chr2:51259649..51259650 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*613del deletion Pitt-Hopkins-like syndrome [RCV000353702] Chr2:49921331 [GRCh38]
Chr2:50148469 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.1(NRXN1):c.-1459_-1452dupCTCTCTCT microsatellite Pitt-Hopkins-like syndrome [RCV000372072] Chr2:51032510..51032511 [GRCh38]
Chr2:51259648..51259649 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2629A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000372459] Chr2:49919315 [GRCh38]
Chr2:50146453 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.2(NRXN1):c.-1334C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000390220] Chr2:51032393 [GRCh38]
Chr2:51259531 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.2(NRXN1):c.-1395G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000310084] Chr2:51032454 [GRCh38]
Chr2:51259592 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1032G>A single nucleotide variant NRXN1-related disorder [RCV004530374]|Pitt-Hopkins-like syndrome 2 [RCV000310309]|not provided [RCV001753801] Chr2:51026470 [GRCh38]
Chr2:51253608 [GRCh37]
Chr2:2p16.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.-421A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000339081]|not provided [RCV001636942] Chr2:51028694 [GRCh38]
Chr2:51255832 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.-465T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000354980] Chr2:51028738 [GRCh38]
Chr2:51255876 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.2(NRXN1):c.-1219C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000372830] Chr2:51032278 [GRCh38]
Chr2:51259416 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1546C>A (p.Leu516Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000373872]|Pitt-Hopkins-like syndrome 2 [RCV002488723] Chr2:50552800 [GRCh38]
Chr2:50779938 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2372G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000391503] Chr2:49919572 [GRCh38]
Chr2:50146710 [GRCh37]
Chr2:2p16.3		 benign|uncertain significance
NM_001330078.2(NRXN1):c.772+6G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005056299]|not specified [RCV000604314] Chr2:51027496 [GRCh38]
Chr2:51254634 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.-224G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000287648] Chr2:51028497 [GRCh38]
Chr2:51255635 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2377T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000310530] Chr2:49919567 [GRCh38]
Chr2:50146705 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*1723_*1724del deletion Pitt-Hopkins-like syndrome [RCV000356496] Chr2:49920220..49920221 [GRCh38]
Chr2:50147358..50147359 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-602G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000356328]|not provided [RCV000829961] Chr2:51028875 [GRCh38]
Chr2:51256013 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.*2511G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000393386]|not provided [RCV004708643] Chr2:49919433 [GRCh38]
Chr2:50146571 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.*1049TTCTT[1] microsatellite Pitt-Hopkins-like syndrome [RCV000289069] Chr2:49920886..49920890 [GRCh38]
Chr2:50148024..50148028 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*878_*879dup duplication Pitt-Hopkins-like syndrome [RCV000340756] Chr2:49921064..49921065 [GRCh38]
Chr2:50148202..50148203 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.492C>T (p.Ala164=) single nucleotide variant NRXN1-related disorder [RCV004544629]|Pitt-Hopkins-like syndrome 2 [RCV000357139] Chr2:51027782 [GRCh38]
Chr2:51254920 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.*2277G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000357703] Chr2:49919667 [GRCh38]
Chr2:50146805 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3646C>T (p.Arg1216Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000300196] Chr2:50091395 [GRCh38]
Chr2:50318533 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.2(NRXN1):c.-1273G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000312102]|not provided [RCV003422322] Chr2:51032332 [GRCh38]
Chr2:51259470 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.*435T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000312357] Chr2:49921509 [GRCh38]
Chr2:50148647 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*3387_*3391dup duplication Pitt-Hopkins-like syndrome [RCV000327123] Chr2:49918552..49918553 [GRCh38]
Chr2:50145690..50145691 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.2(NRXN1):c.-1122C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000341497] Chr2:51032181 [GRCh38]
Chr2:51259319 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*1019G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000341922] Chr2:49920925 [GRCh38]
Chr2:50148063 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*1201AC[17] microsatellite Pitt-Hopkins-like syndrome [RCV000290327] Chr2:49920698..49920709 [GRCh38]
Chr2:50147836..50147847 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*620A>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000301131] Chr2:49921324 [GRCh38]
Chr2:50148462 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2835T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000378095]|not provided [RCV004694567] Chr2:49919109 [GRCh38]
Chr2:50146247 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-1057C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000378129] Chr2:51032116 [GRCh38]
Chr2:51259254 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-563G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000301456]|not provided [RCV001711953] Chr2:51028836 [GRCh38]
Chr2:51255974 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001135659.2(NRXN1):c.-1371dup duplication Pitt-Hopkins-like syndrome [RCV000313624] Chr2:51032425..51032426 [GRCh38]
Chr2:51259563..51259564 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-1039C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000328210] Chr2:51032098 [GRCh38]
Chr2:51259236 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.521T>C (p.Val174Ala) single nucleotide variant Inborn genetic diseases [RCV002338937]|Pitt-Hopkins-like syndrome 2 [RCV000360392]|not provided [RCV001582982] Chr2:51027753 [GRCh38]
Chr2:51254891 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*3346T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000360844] Chr2:49918598 [GRCh38]
Chr2:50145736 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.2(NRXN1):c.-1270A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000397099]|not provided [RCV001576635] Chr2:51032329 [GRCh38]
Chr2:51259467 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.*1090G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000398069] Chr2:49920854 [GRCh38]
Chr2:50147992 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-281T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000398128]|not provided [RCV000829843] Chr2:51028554 [GRCh38]
Chr2:51255692 [GRCh37]
Chr2:2p16.3		 benign
NM_001135659.2(NRXN1):c.-1451T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001139366] Chr2:51032510 [GRCh38]
Chr2:51259648 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2386A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001138842] Chr2:49919558 [GRCh38]
Chr2:50146696 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2298C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001138843] Chr2:49919646 [GRCh38]
Chr2:50146784 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.588C>A (p.Pro196=) single nucleotide variant not provided [RCV000592443] Chr2:51027686 [GRCh38]
Chr2:51254824 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=) single nucleotide variant Inborn genetic diseases [RCV002358666]|Pitt-Hopkins-like syndrome 2 [RCV000768037]|Pitt-Hopkins-like syndrome 2 [RCV001080918]|not provided [RCV000598907] Chr2:51027674 [GRCh38]
Chr2:51254812 [GRCh37]
Chr2:2p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2488G>C (p.Ala830Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000554189] Chr2:50506504 [GRCh38]
Chr2:50733642 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3757C>T (p.Arg1253Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001857997]|not provided [RCV000523187] Chr2:50055006 [GRCh38]
Chr2:50282144 [GRCh37]
Chr2:2p16.3		 pathogenic|likely pathogenic
NM_001330078.2(NRXN1):c.1996G>A (p.Ala666Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000550700] Chr2:50538400 [GRCh38]
Chr2:50765538 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.644G>A (p.Ser215Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001139144] Chr2:51027630 [GRCh38]
Chr2:51254768 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4173_4188delinsGTGTCCCTAA (p.Asp1391_Asp1396delinsGluCysProTer) indel not provided [RCV000599481]|not specified [RCV003387896] Chr2:49943732..49943747 [GRCh38]
Chr2:50170870..50170885 [GRCh37]
Chr2:2p16.3		 likely pathogenic|uncertain significance
NM_001330078.2(NRXN1):c.1779G>A (p.Thr593=) single nucleotide variant Inborn genetic diseases [RCV002413760]|NRXN1-related disorder [RCV004544792]|Pitt-Hopkins-like syndrome 2 [RCV001433097]|not specified [RCV000603429] Chr2:50538617 [GRCh38]
Chr2:50765755 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3039C>G (p.Ile1013Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000624080] Chr2:50495936 [GRCh38]
Chr2:50723074 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4002G>A (p.Met1334Ile) single nucleotide variant not provided [RCV000584966] Chr2:50053397 [GRCh38]
Chr2:50280535 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.192C>T (p.Arg64=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002062039]|not provided [RCV000598237] Chr2:51028082 [GRCh38]
Chr2:51255220 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.805A>T (p.Met269Leu) single nucleotide variant Inborn genetic diseases [RCV003258805]|Pitt-Hopkins-like syndrome 2 [RCV001203909]|not provided [RCV000414234] Chr2:50922673 [GRCh38]
Chr2:51149811 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.779A>G (p.Asn260Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001246634]|not provided [RCV000731065] Chr2:50925949 [GRCh38]
Chr2:51153087 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1043C>G single nucleotide variant not provided [RCV000732172] Chr2:51026459 [GRCh38]
Chr2:51253597 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3307G>T (p.Asp1103Tyr) single nucleotide variant not provided [RCV000733226] Chr2:50465499 [GRCh38]
Chr2:50692637 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1679C>A (p.Thr560Asn) single nucleotide variant Inborn genetic diseases [RCV002530196]|Pitt-Hopkins-like syndrome 2 [RCV000537930] Chr2:50552667 [GRCh38]
Chr2:50779805 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.744C>T (p.Thr248=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001431795]|not provided [RCV000734136] Chr2:51027530 [GRCh38]
Chr2:51254668 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.276C>T (p.Ser92=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000555673] Chr2:51027998 [GRCh38]
Chr2:51255136 [GRCh37]
Chr2:2p16.3		 likely benign
GRCh37/hg19 2p16.3(chr2:51153883-51326497)x1 copy number loss not provided [RCV000752950] Chr2:51153883..51326497 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.773-1G>T single nucleotide variant Intellectual disability [RCV000790431] Chr2:50925956 [GRCh38]
Chr2:51153094 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.150C>G (p.Cys50Trp) single nucleotide variant not specified [RCV000413417] Chr2:51028124 [GRCh38]
Chr2:51255262 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2843A>G (p.Asp948Gly) single nucleotide variant not specified [RCV000413432] Chr2:50497369 [GRCh38]
Chr2:50724507 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109977G>A single nucleotide variant not specified [RCV000413856] Chr2:50346947 [GRCh38]
Chr2:50574085 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51234059-51263065)x1 copy number loss See cases [RCV000449105] Chr2:51234059..51263065 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51193626-51382813)x1 copy number loss See cases [RCV000449436] Chr2:51193626..51382813 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1		 pathogenic
GRCh37/hg19 2p16.3(chr2:50964034-51915187)x1 copy number loss See cases [RCV000449294] Chr2:50964034..51915187 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50918448-50982113)x1 copy number loss See cases [RCV000447544] Chr2:50918448..50982113 [GRCh37]
Chr2:2p16.3		 likely benign
GRCh37/hg19 2p16.3(chr2:50847100-50847341)x3 copy number gain See cases [RCV000446830] Chr2:50847100..50847341 [GRCh37]
Chr2:2p16.3		 benign|likely benign
GRCh37/hg19 2p16.3(chr2:50280210-51109690)x1 copy number loss See cases [RCV000447683] Chr2:50280210..51109690 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50838594-51119793)x1 copy number loss See cases [RCV000446727] Chr2:50838594..51119793 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50959192-51402934)x1 copy number loss See cases [RCV000447055] Chr2:50959192..51402934 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50281917-50282100)x3 copy number gain See cases [RCV000446257] Chr2:50281917..50282100 [GRCh37]
Chr2:2p16.3		 benign
GRCh37/hg19 2p16.3(chr2:51259160-51259694)x3 copy number gain See cases [RCV000447455] Chr2:51259160..51259694 [GRCh37]
Chr2:2p16.3		 benign
GRCh37/hg19 2p16.3(chr2:51083410-51314371)x1 copy number loss See cases [RCV000447523] Chr2:51083410..51314371 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2391T>A (p.Thr797=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002063614]|not specified [RCV000427138] Chr2:50506601 [GRCh38]
Chr2:50733739 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2893G>T (p.Val965Leu) single nucleotide variant not provided [RCV000437711] Chr2:50496082 [GRCh38]
Chr2:50723220 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.583C>T (p.Leu195=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000898686]|not provided [RCV001720228] Chr2:51027691 [GRCh38]
Chr2:51254829 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-109897G>C single nucleotide variant Inborn genetic diseases [RCV002314154]|not provided [RCV000441448] Chr2:50346867 [GRCh38]
Chr2:50574005 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.324G>A (p.Pro108=) single nucleotide variant NRXN1-related disorder [RCV004530540]|Pitt-Hopkins-like syndrome 2 [RCV000649750]|not specified [RCV000444941] Chr2:51027950 [GRCh38]
Chr2:51255088 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.4107G>A (p.Pro1369=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649759]|not provided [RCV001720178] Chr2:50053292 [GRCh38]
Chr2:50280430 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.723C>G (p.Ala241=) single nucleotide variant Inborn genetic diseases [RCV002318389]|Pitt-Hopkins-like syndrome 2 [RCV000868312]|not specified [RCV000423843] Chr2:51027551 [GRCh38]
Chr2:51254689 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.93G>T (p.Leu31=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001429172]|not specified [RCV000423883] Chr2:51028181 [GRCh38]
Chr2:51255319 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1696C>T (p.Leu566=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002522477]|not specified [RCV000424035] Chr2:50552650 [GRCh38]
Chr2:50779788 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1015C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002061451]|not specified [RCV000434532] Chr2:51026487 [GRCh38]
Chr2:51253625 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.684C>T (p.Cys228=) single nucleotide variant not specified [RCV000421025] Chr2:51027590 [GRCh38]
Chr2:51254728 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.159G>A (p.Glu53=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619680]|not specified [RCV000434711] Chr2:51028115 [GRCh38]
Chr2:51255253 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.832+14T>G single nucleotide variant not specified [RCV000438082] Chr2:50921855 [GRCh38]
Chr2:51148993 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1869T>G (p.Ala623=) single nucleotide variant not specified [RCV000438110] Chr2:50538527 [GRCh38]
Chr2:50765665 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3330T>C (p.Ser1110=) single nucleotide variant not specified [RCV000438180] Chr2:50465476 [GRCh38]
Chr2:50692614 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1760-11C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002059813]|not provided [RCV001704439] Chr2:50538647 [GRCh38]
Chr2:50765785 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.1715A>G (p.Asp572Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000680051] Chr2:50552631 [GRCh38]
Chr2:50779769 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50937444-50970662)x1 copy number loss See cases [RCV000445882] Chr2:50937444..50970662 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2210C>T (p.Thr737Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001368422]|not provided [RCV000418662] Chr2:50531364 [GRCh38]
Chr2:50758502 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109863C>T single nucleotide variant not specified [RCV000418724] Chr2:50346833 [GRCh38]
Chr2:50573971 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2316C>T (p.Asp772=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001464814]|not specified [RCV000424850] Chr2:50531258 [GRCh38]
Chr2:50758396 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3228C>A (p.Ile1076=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509531]|not specified [RCV000428338] Chr2:50472314 [GRCh38]
Chr2:50699452 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.-22C>A single nucleotide variant not specified [RCV000438731] Chr2:51028295 [GRCh38]
Chr2:51255433 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1194G>A (p.Thr398=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001316184]|not specified [RCV000438772] Chr2:50620148 [GRCh38]
Chr2:50847286 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.273C>T (p.Leu91=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002061450]|not provided [RCV001703474] Chr2:51028001 [GRCh38]
Chr2:51255139 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-109836G>A single nucleotide variant not specified [RCV000435599] Chr2:50346806 [GRCh38]
Chr2:50573944 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3245-4G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001429903]|not provided [RCV000726769] Chr2:50465565 [GRCh38]
Chr2:50692703 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.864A>G (p.Gly288=) single nucleotide variant Inborn genetic diseases [RCV002379336]|NRXN1-related disorder [RCV004533023]|Pitt-Hopkins-like syndrome 2 [RCV000649749]|not specified [RCV000419068] Chr2:50623584 [GRCh38]
Chr2:50850722 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.-7C>A single nucleotide variant not specified [RCV000425144] Chr2:51028280 [GRCh38]
Chr2:51255418 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3244+18T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002521756]|not specified [RCV000425204] Chr2:50472280 [GRCh38]
Chr2:50699418 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4428A>G (p.Ala1476=) single nucleotide variant Inborn genetic diseases [RCV002328959]|Pitt-Hopkins-like syndrome 2 [RCV000878786]|not provided [RCV001720213] Chr2:49922040 [GRCh38]
Chr2:50149178 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.321G>T (p.Thr107=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001446055]|not specified [RCV000432188] Chr2:51027953 [GRCh38]
Chr2:51255091 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.300T>G (p.Pro100=) single nucleotide variant Inborn genetic diseases [RCV002318414]|Pitt-Hopkins-like syndrome 2 [RCV001485103]|not specified [RCV000439327] Chr2:51027974 [GRCh38]
Chr2:51255112 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.6G>T (p.Gly2=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001861601]|not specified [RCV000425464] Chr2:51028268 [GRCh38]
Chr2:51255406 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3071-17C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509535]|not specified [RCV000429138] Chr2:50472488 [GRCh38]
Chr2:50699626 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2196C>T (p.Pro732=) single nucleotide variant Inborn genetic diseases [RCV002429362]|NRXN1-related disorder [RCV004539774]|Pitt-Hopkins-like syndrome 2 [RCV001466176]|not provided [RCV001703477] Chr2:50531378 [GRCh38]
Chr2:50758516 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3672C>A (p.Ala1224=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001470977]|not provided [RCV000871100] Chr2:50091369 [GRCh38]
Chr2:50318507 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3717A>T (p.Ala1239=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001341452]|not specified [RCV000422271] Chr2:50091324 [GRCh38]
Chr2:50318462 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2244C>G (p.Ser748=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000870642]|not provided [RCV001718855] Chr2:50531330 [GRCh38]
Chr2:50758468 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2983A>C (p.Arg995=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005090810]|not specified [RCV000436204] Chr2:50495992 [GRCh38]
Chr2:50723130 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2832T>G (p.Tyr944Ter) single nucleotide variant not provided [RCV000427988] Chr2:50497380 [GRCh38]
Chr2:50724518 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.*13A>C single nucleotide variant not specified [RCV000419708] Chr2:49921931 [GRCh38]
Chr2:50149069 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-110016C>T single nucleotide variant not specified [RCV000439908] Chr2:50346986 [GRCh38]
Chr2:50574124 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-109899A>G single nucleotide variant Inborn genetic diseases [RCV002314153]|Pitt-Hopkins-like syndrome 2 [RCV002502477]|not provided [RCV001718856] Chr2:50346869 [GRCh38]
Chr2:50574007 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-109836G>T single nucleotide variant Inborn genetic diseases [RCV002318480]|not specified [RCV000420089] Chr2:50346806 [GRCh38]
Chr2:50573944 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2247G>A (p.Gln749=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002525340]|not specified [RCV000422558] Chr2:50531327 [GRCh38]
Chr2:50758465 [GRCh37]
Chr2:2p16.3		 pathogenic|likely benign
NM_001330078.2(NRXN1):c.1134+8C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000535239]|not specified [RCV000426249] Chr2:50623306 [GRCh38]
Chr2:50850444 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.3030A>G (p.Thr1010=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000861922]|not provided [RCV001703478] Chr2:50495945 [GRCh38]
Chr2:50723083 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1338T>C (p.Asn446=) single nucleotide variant not specified [RCV000426309] Chr2:50553008 [GRCh38]
Chr2:50780146 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.*1T>A single nucleotide variant not specified [RCV000430066] Chr2:49921943 [GRCh38]
Chr2:50149081 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.-906A>C single nucleotide variant not specified [RCV000433433] Chr2:51029179 [GRCh38]
Chr2:51256317 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4176T>C (p.Asp1392=) single nucleotide variant Inborn genetic diseases [RCV002374630]|NRXN1-related disorder [RCV004539775]|Pitt-Hopkins-like syndrome 2 [RCV000472283]|Pitt-Hopkins-like syndrome 2 [RCV002502478]|not provided [RCV001718857] Chr2:49943744 [GRCh38]
Chr2:50170882 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-109912G>A single nucleotide variant not provided [RCV000440378] Chr2:50346882 [GRCh38]
Chr2:50574020 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.833-5T>G single nucleotide variant Inborn genetic diseases [RCV002314152]|Pitt-Hopkins-like syndrome 2 [RCV000649754]|not provided [RCV001703475] Chr2:50623620 [GRCh38]
Chr2:50850758 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.4217-13C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002061452]|not specified [RCV000423123] Chr2:49922264 [GRCh38]
Chr2:50149402 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.108C>T (p.Ala36=) single nucleotide variant Inborn genetic diseases [RCV002446662]|Pitt-Hopkins-like syndrome 2 [RCV000546560]|not provided [RCV001712207] Chr2:51028166 [GRCh38]
Chr2:51255304 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3718+11G>A single nucleotide variant not specified [RCV000430316] Chr2:50091312 [GRCh38]
Chr2:50318450 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1218C>A (p.Thr406=) single nucleotide variant not provided [RCV001703476] Chr2:50620124 [GRCh38]
Chr2:50847262 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.726G>A (p.Val242=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001400555]|not provided [RCV000540865] Chr2:51027548 [GRCh38]
Chr2:51254686 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1307G>A (p.Gly436Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002524784]|not provided [RCV000444220] Chr2:50620035 [GRCh38]
Chr2:50847173 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51107486-51375539)x1 copy number loss See cases [RCV000445698] Chr2:51107486..51375539 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.1050C>G (p.Ala350=) single nucleotide variant Inborn genetic diseases [RCV002318467]|NRXN1-related disorder [RCV004539861]|Pitt-Hopkins-like syndrome 2 [RCV000863085]|not provided [RCV004711073]|not specified [RCV000426869] Chr2:50623398 [GRCh38]
Chr2:50850536 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3547-18T>C single nucleotide variant not specified [RCV000433875] Chr2:50091512 [GRCh38]
Chr2:50318650 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2109C>T (p.Ser703=) single nucleotide variant Inborn genetic diseases [RCV002429361]|Pitt-Hopkins-like syndrome 2 [RCV000933306]|not provided [RCV003418112]|not specified [RCV000426996] Chr2:50538287 [GRCh38]
Chr2:50765425 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.3365-109897G>T single nucleotide variant not provided [RCV000430708] Chr2:50346867 [GRCh38]
Chr2:50574005 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1760-8T>C single nucleotide variant not specified [RCV000430779] Chr2:50538644 [GRCh38]
Chr2:50765782 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2782C>T (p.His928Tyr) single nucleotide variant not provided [RCV000430812] Chr2:50497430 [GRCh38]
Chr2:50724568 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3547-2A>G single nucleotide variant not provided [RCV000441331] Chr2:50091496 [GRCh38]
Chr2:50318634 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.162G>A (p.Met54Ile) single nucleotide variant Ovarian dysgenesis 3 [RCV000417111]|Pitt-Hopkins-like syndrome 2 [RCV002521498] Chr2:51028112 [GRCh38]
Chr2:51255250 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
GRCh37/hg19 2p16.3(chr2:51191164-51354468)x1 copy number loss See cases [RCV000448935] Chr2:51191164..51354468 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51225621-51304763)x1 copy number loss See cases [RCV000448175] Chr2:51225621..51304763 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50804279-51027599)x1 copy number loss See cases [RCV000447781] Chr2:50804279..51027599 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50813343-50948464)x1 copy number loss See cases [RCV000448283] Chr2:50813343..50948464 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51181652-51343169)x3 copy number gain See cases [RCV000447814] Chr2:51181652..51343169 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50573838-50579293)x3 copy number gain See cases [RCV000448308] Chr2:50573838..50579293 [GRCh37]
Chr2:2p16.3		 likely benign
NC_000002.12:g.(?_50722330)_(50939855_?)del deletion Schizophrenia [RCV000416908] Chr2:50722330..50939855 [GRCh38]
Chr2:50949468..51166993 [GRCh37]
Chr2:50802972..51020497 [NCBI36]
Chr2:2p16.3		 likely pathogenic
GRCh37/hg19 2p16.3(chr2:51032041-51189570)x1 copy number loss See cases [RCV000448451] Chr2:51032041..51189570 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.3181C>T (p.Arg1061Trp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000459018] Chr2:50472361 [GRCh38]
Chr2:50699499 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1784G>A (p.Arg595His) single nucleotide variant Inborn genetic diseases [RCV004955535]|Pitt-Hopkins-like syndrome 2 [RCV000764445]|Pitt-Hopkins-like syndrome 2 [RCV003114611]|not provided [RCV000479818] Chr2:50538612 [GRCh38]
Chr2:50765750 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2880-22_2880-14del deletion Pitt-Hopkins-like syndrome 2 [RCV002063749]|not specified [RCV000480174] Chr2:50496109..50496117 [GRCh38]
Chr2:50723247..50723255 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2483A>C (p.Gln828Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000459931] Chr2:50506509 [GRCh38]
Chr2:50733647 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4352C>T (p.Ala1451Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000471230] Chr2:49922116 [GRCh38]
Chr2:50149254 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-110014del deletion not specified [RCV000484475] Chr2:50346984 [GRCh38]
Chr2:50574122 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2144-22_2144-20del deletion Pitt-Hopkins-like syndrome 2 [RCV002063741]|not specified [RCV000484606] Chr2:50531450..50531452 [GRCh38]
Chr2:50758588..50758590 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4012T>G (p.Ser1338Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619683]|not provided [RCV000484825] Chr2:50053387 [GRCh38]
Chr2:50280525 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.479C>T (p.Pro160Leu) single nucleotide variant Inborn genetic diseases [RCV002525595]|Pitt-Hopkins-like syndrome 2 [RCV000475838]|not provided [RCV001584165] Chr2:51027795 [GRCh38]
Chr2:51254933 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.9G>C (p.Thr3=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000472390]|not provided [RCV001721541] Chr2:51028265 [GRCh38]
Chr2:51255403 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.119G>A (p.Trp40Ter) single nucleotide variant not provided [RCV000484849] Chr2:51028155 [GRCh38]
Chr2:51255293 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.3845dup (p.Ile1283fs) duplication not provided [RCV000485040] Chr2:50053553..50053554 [GRCh38]
Chr2:50280691..50280692 [GRCh37]
Chr2:2p16.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001330078.2(NRXN1):c.2261T>C (p.Ile754Thr) single nucleotide variant Inborn genetic diseases [RCV004022863]|Pitt-Hopkins-like syndrome 2 [RCV000469254] Chr2:50531313 [GRCh38]
Chr2:50758451 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.322C>G (p.Pro108Ala) single nucleotide variant not provided [RCV000478183] Chr2:51027952 [GRCh38]
Chr2:51255090 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.150C>T (p.Cys50=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000473400] Chr2:51028124 [GRCh38]
Chr2:51255262 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_138735.4:(NRXN1):c.49GGC[13] (p.Gly17[13]) microsatellite Inborn genetic diseases [RCV002367630]|not provided [RCV001722388] Chr2:50346872 [GRCh38]
Chr2:50574010 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1786A>T (p.Thr596Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000466435] Chr2:50538610 [GRCh38]
Chr2:50765748 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3769C>T (p.Arg1257Ter) single nucleotide variant not provided [RCV000480371] Chr2:50054994 [GRCh38]
Chr2:50282132 [GRCh37]
Chr2:2p16.3		 likely pathogenic
GRCh37/hg19 2p16.3(chr2:51238789-51309967)x1 copy number loss See cases [RCV000510249] Chr2:51238789..51309967 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.772G>A (p.Glu258Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001220515]|not provided [RCV000498652] Chr2:51027502 [GRCh38]
Chr2:51254640 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1244A>G (p.Tyr415Cys) single nucleotide variant NRXN-related disorder [RCV000509452]|Pitt-Hopkins-like syndrome 2 [RCV001302540]|not provided [RCV000498917] Chr2:50620098 [GRCh38]
Chr2:50847236 [GRCh37]
Chr2:2p16.3		 uncertain significance|not provided
NM_001330078.2(NRXN1):c.369C>A (p.Phe123Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002527655]|not provided [RCV000523116] Chr2:51027905 [GRCh38]
Chr2:51255043 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.320C>T (p.Thr107Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000792806]|not provided [RCV001755746]|not specified [RCV000504207] Chr2:51027954 [GRCh38]
Chr2:51255092 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3192C>T (p.Asp1064=) single nucleotide variant not specified [RCV000499556] Chr2:50472350 [GRCh38]
Chr2:50699488 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2085G>A (p.Trp695Ter) single nucleotide variant not provided [RCV000497428] Chr2:50538311 [GRCh38]
Chr2:50765449 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.503A>G (p.Lys168Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001141768]|not provided [RCV000497458] Chr2:51027771 [GRCh38]
Chr2:51254909 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3009A>T (p.Val1003=) single nucleotide variant not specified [RCV000499863] Chr2:50495966 [GRCh38]
Chr2:50723104 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1296C>T (p.Asn432=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003105933]|not specified [RCV000502192] Chr2:50620046 [GRCh38]
Chr2:50847184 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.668G>A (p.Gly223Asp) single nucleotide variant not specified [RCV000502253] Chr2:51027606 [GRCh38]
Chr2:51254744 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51229995-51363342)x1 copy number loss See cases [RCV000510712] Chr2:51229995..51363342 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.1480C>T (p.Pro494Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001366185]|not provided [RCV000497893] Chr2:50552866 [GRCh38]
Chr2:50780004 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1648C>G (p.Leu550Val) single nucleotide variant not specified [RCV000500233] Chr2:50552698 [GRCh38]
Chr2:50779836 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.76G>C (p.Glu26Gln) single nucleotide variant Inborn genetic diseases [RCV003159608]|Pitt-Hopkins-like syndrome 2 [RCV001225086]|not provided [RCV000498110] Chr2:51028198 [GRCh38]
Chr2:51255336 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.656_664dup (p.Ala219_Glu221dup) duplication Pitt-Hopkins-like syndrome 2 [RCV004796210]|not specified [RCV000502634] Chr2:51027609..51027610 [GRCh38]
Chr2:51254747..51254748 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.847A>G (p.Ile283Val) single nucleotide variant Inborn genetic diseases [RCV002376927]|Pitt-Hopkins-like syndrome 2 [RCV001344361]|not specified [RCV000500606] Chr2:50623601 [GRCh38]
Chr2:50850739 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3675G>A (p.Thr1225=) single nucleotide variant NRXN1-related disorder [RCV004535606]|Pitt-Hopkins-like syndrome 2 [RCV001454591]|not provided [RCV001566075]|not specified [RCV000502923] Chr2:50091366 [GRCh38]
Chr2:50318504 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.338C>T (p.Ala113Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001857134]|Pitt-Hopkins-like syndrome 2 [RCV002490838]|not specified [RCV000503057] Chr2:51027936 [GRCh38]
Chr2:51255074 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50844015-51586061)x1 copy number loss See cases [RCV000510356] Chr2:50844015..51586061 [GRCh37]
Chr2:2p16.3		 likely pathogenic
GRCh37/hg19 2p16.3(chr2:50964034-51227294)x1 copy number loss See cases [RCV000511405] Chr2:50964034..51227294 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51113043-51257100)x1 copy number loss See cases [RCV000511342] Chr2:51113043..51257100 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51078335-51562416)x1 copy number loss See cases [RCV000511751] Chr2:51078335..51562416 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51225621-51337449)x1 copy number loss See cases [RCV000511794] Chr2:51225621..51337449 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.325G>A (p.Val109Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001060039]|not provided [RCV000492823] Chr2:51027949 [GRCh38]
Chr2:51255087 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3653C>T (p.Thr1218Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001359620]|not provided [RCV000492983] Chr2:50091388 [GRCh38]
Chr2:50318526 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51146817-51854353)x1 copy number loss See cases [RCV000511128] Chr2:51146817..51854353 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50905757-51249333)x1 copy number loss See cases [RCV000510997] Chr2:50905757..51249333 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001330078.2(NRXN1):c.3046G>A (p.Gly1016Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000533202] Chr2:50495929 [GRCh38]
Chr2:50723067 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.297G>A (p.Glu99=) single nucleotide variant not provided [RCV003411454]|not specified [RCV000603631] Chr2:51027977 [GRCh38]
Chr2:51255115 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-109705C>G single nucleotide variant not specified [RCV000603669] Chr2:50346675 [GRCh38]
Chr2:50573813 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-109922G>C single nucleotide variant not provided [RCV000579240] Chr2:50346892 [GRCh38]
Chr2:50574030 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.371G>C (p.Arg124Pro) single nucleotide variant Inborn genetic diseases [RCV003257226] Chr2:51027903 [GRCh38]
Chr2:51255041 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1269C>T (p.Ala423=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000536718] Chr2:50620073 [GRCh38]
Chr2:50847211 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-109902C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000768035]|not provided [RCV001550373] Chr2:50346872 [GRCh38]
Chr2:50574010 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
GRCh37/hg19 2p16.3(chr2:50984755-51256334)x1 copy number loss not provided [RCV003312531] Chr2:50984755..51256334 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.2476G>A (p.Asp826Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000541720] Chr2:50506516 [GRCh38]
Chr2:50733654 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.930G>A (p.Leu310=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619705]|not specified [RCV000602412] Chr2:50623518 [GRCh38]
Chr2:50850656 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.249G>T (p.Leu83=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001418828]|not provided [RCV000953830] Chr2:51028025 [GRCh38]
Chr2:51255163 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.-919G>C single nucleotide variant not specified [RCV000609514] Chr2:51029192 [GRCh38]
Chr2:51256330 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2348-6A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002066591]|not provided [RCV001719043] Chr2:50528657 [GRCh38]
Chr2:50755795 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-109758A>G single nucleotide variant not specified [RCV000612465] Chr2:50346728 [GRCh38]
Chr2:50573866 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.588C>T (p.Pro196=) single nucleotide variant Inborn genetic diseases [RCV002358717]|Pitt-Hopkins-like syndrome 2 [RCV000869587]|not specified [RCV000615200] Chr2:51027686 [GRCh38]
Chr2:51254824 [GRCh37]
Chr2:2p16.3		 likely benign
NM_138735.4(NRXN1):c.49GCC[12] (p.Gly17[12]) microsatellite Inborn genetic diseases [RCV002314169]|Pitt-Hopkins-like syndrome 2 [RCV005034193]|not provided [RCV001531317]|not specified [RCV000609811] Chr2:50346870..50346871 [GRCh38]
Chr2:50574008..50574009 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.285C>T (p.Ile95=) single nucleotide variant not specified [RCV000612660] Chr2:51027989 [GRCh38]
Chr2:51255127 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3675G>T (p.Thr1225=) single nucleotide variant not specified [RCV000615796] Chr2:50091366 [GRCh38]
Chr2:50318504 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3808+8dup duplication Pitt-Hopkins-like syndrome 2 [RCV000983756]|not specified [RCV000609974] Chr2:50054946..50054947 [GRCh38]
Chr2:50282084..50282085 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-109902_3365-109900dup duplication not provided [RCV001718987] Chr2:50346869..50346870 [GRCh38]
Chr2:50574007..50574008 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.589G>C (p.Val197Leu) single nucleotide variant Inborn genetic diseases [RCV000622290] Chr2:51027685 [GRCh38]
Chr2:51254823 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+16C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005091683]|not specified [RCV000610223] Chr2:51027486 [GRCh38]
Chr2:51254624 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1887C>T (p.Thr629=) single nucleotide variant Inborn genetic diseases [RCV002317350]|Pitt-Hopkins-like syndrome 2 [RCV001475915]|not provided [RCV001697472] Chr2:50538509 [GRCh38]
Chr2:50765647 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.832+6A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000554716]|not provided [RCV001755883] Chr2:50921863 [GRCh38]
Chr2:51149001 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2301C>A (p.Leu767=) single nucleotide variant not specified [RCV000616152] Chr2:50531273 [GRCh38]
Chr2:50758411 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3245-10T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649729] Chr2:50465571 [GRCh38]
Chr2:50692709 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.4337T>A (p.Leu1446His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649730] Chr2:49922131 [GRCh38]
Chr2:50149269 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2437C>T (p.Arg813Cys) single nucleotide variant Inborn genetic diseases [RCV002531944]|NRXN1-related disorder [RCV004533398]|Pitt-Hopkins-like syndrome 2 [RCV000649731]|not provided [RCV001551717] Chr2:50506555 [GRCh38]
Chr2:50733693 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.325G>C (p.Val109Leu) single nucleotide variant Inborn genetic diseases [RCV004649245]|Pitt-Hopkins-like syndrome 2 [RCV000649732] Chr2:51027949 [GRCh38]
Chr2:51255087 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.515C>T (p.Ala172Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649733] Chr2:51027759 [GRCh38]
Chr2:51254897 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2491A>G (p.Met831Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649734]|not provided [RCV001555104] Chr2:50506501 [GRCh38]
Chr2:50733639 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.652G>C (p.Glu218Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649735] Chr2:51027622 [GRCh38]
Chr2:51254760 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.665_673dup (p.Glu222_Glu224dup) duplication Inborn genetic diseases [RCV002317889]|Pitt-Hopkins-like syndrome 2 [RCV000649736]|Pitt-Hopkins-like syndrome 2 [RCV000768036]|not provided [RCV001508077] Chr2:51027600..51027601 [GRCh38]
Chr2:51254738..51254739 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.190C>A (p.Arg64Ser) single nucleotide variant Inborn genetic diseases [RCV004957947]|Pitt-Hopkins-like syndrome 2 [RCV000649737]|not provided [RCV001565881] Chr2:51028084 [GRCh38]
Chr2:51255222 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.113G>A (p.Gly38Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649739] Chr2:51028161 [GRCh38]
Chr2:51255299 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3612T>A (p.Asn1204Lys) single nucleotide variant Inborn genetic diseases [RCV002343350]|Pitt-Hopkins-like syndrome 2 [RCV000649740] Chr2:50091429 [GRCh38]
Chr2:50318567 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1647C>A (p.His549Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649741] Chr2:50552699 [GRCh38]
Chr2:50779837 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1551C>G (p.Ile517Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649743] Chr2:50552795 [GRCh38]
Chr2:50779933 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.804G>C (p.Leu268=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001087129]|not provided [RCV000828263] Chr2:50922674 [GRCh38]
Chr2:51149812 [GRCh37]
Chr2:2p16.3		 likely benign
NC_000002.12:g.(?_50465422)_(51032054_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000649762] Chr2:50465422..51032054 [GRCh38]
Chr2:50692560..51259192 [GRCh37]
Chr2:2p16.3		 pathogenic
NC_000002.12:g.(?_49921924)_(50055064_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000649763] Chr2:49921924..50055064 [GRCh38]
Chr2:50149062..50282202 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.12:g.(?_50921849)_(50925975_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000649764] Chr2:50921849..50925975 [GRCh38]
Chr2:51148987..51153113 [GRCh37]
Chr2:2p16.3		 pathogenic|uncertain significance
NC_000002.12:g.(?_50053251)_(50055064_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000649766] Chr2:50053251..50055064 [GRCh38]
Chr2:50280389..50282202 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2625T>C (p.Asn875=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001450675]|Pitt-Hopkins-like syndrome 2 [RCV002485462] Chr2:50497587 [GRCh38]
Chr2:50724725 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2498-7C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001472729] Chr2:50497721 [GRCh38]
Chr2:50724859 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2446C>A (p.Arg816=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649748] Chr2:50506546 [GRCh38]
Chr2:50733684 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.546G>A (p.Gly182=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649751] Chr2:51027728 [GRCh38]
Chr2:51254866 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1800T>C (p.Ala600=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649753] Chr2:50538596 [GRCh38]
Chr2:50765734 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3718+7A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649760] Chr2:50091316 [GRCh38]
Chr2:50318454 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-3C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649761] Chr2:50236973 [GRCh38]
Chr2:50464111 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3168T>G (p.Val1056=) single nucleotide variant not specified [RCV000601996] Chr2:50472374 [GRCh38]
Chr2:50699512 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.75G>A (p.Ala25=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001211306]|not specified [RCV000613077] Chr2:51028199 [GRCh38]
Chr2:51255337 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3165A>G (p.Ser1055=) single nucleotide variant Inborn genetic diseases [RCV002311953]|not provided [RCV000596933] Chr2:50472377 [GRCh38]
Chr2:50699515 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NC_000002.12:g.(?_50528605)_(50623635_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000649765] Chr2:50528605..50623635 [GRCh38]
Chr2:50755743..50850773 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2375-4A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001423384]|not provided [RCV001697359] Chr2:50506621 [GRCh38]
Chr2:50733759 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1320+19A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002065364]|not specified [RCV000607847] Chr2:50620003 [GRCh38]
Chr2:50847141 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3888G>A (p.Gln1296=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001441354]|not specified [RCV000613398] Chr2:50053511 [GRCh38]
Chr2:50280649 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1947C>T (p.Ile649=) single nucleotide variant Inborn genetic diseases [RCV002317349]|Pitt-Hopkins-like syndrome 2 [RCV001477613]|not provided [RCV001722641] Chr2:50538449 [GRCh38]
Chr2:50765587 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1737C>T (p.Asp579=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509583]|not provided [RCV001712655] Chr2:50552609 [GRCh38]
Chr2:50779747 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1103T>C single nucleotide variant not specified [RCV000616787] Chr2:51026399 [GRCh38]
Chr2:51253537 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3547-16C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002063172]|not specified [RCV000608313] Chr2:50091510 [GRCh38]
Chr2:50318648 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1118G>A single nucleotide variant Inborn genetic diseases [RCV002448901]|Pitt-Hopkins-like syndrome 2 [RCV000867276]|not provided [RCV001719083] Chr2:51026384 [GRCh38]
Chr2:51253522 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1760-15_1760-13del microsatellite not specified [RCV000608476] Chr2:50538649..50538651 [GRCh38]
Chr2:50765787..50765789 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3957C>T (p.Ala1319=) single nucleotide variant not specified [RCV000611154] Chr2:50053442 [GRCh38]
Chr2:50280580 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.702C>T (p.Cys234=) single nucleotide variant NRXN1-related disorder [RCV004544791]|Pitt-Hopkins-like syndrome 2 [RCV001419714]|not provided [RCV001704784] Chr2:51027572 [GRCh38]
Chr2:51254710 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.330C>T (p.Asn110=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001506250] Chr2:51027944 [GRCh38]
Chr2:51255082 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1227G>A (p.Gly409=) single nucleotide variant not provided [RCV001697357] Chr2:50620115 [GRCh38]
Chr2:50847253 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.773-19C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002531632]|not specified [RCV000614480] Chr2:50925974 [GRCh38]
Chr2:51153112 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3919G>A (p.Val1307Ile) single nucleotide variant Inborn genetic diseases [RCV004024209]|Pitt-Hopkins-like syndrome 2 [RCV000535888] Chr2:50053480 [GRCh38]
Chr2:50280618 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3198C>T (p.Ile1066=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001471404]|not specified [RCV000604006] Chr2:50472344 [GRCh38]
Chr2:50699482 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3936C>T (p.Ala1312=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002063028]|not provided [RCV001697343] Chr2:50053463 [GRCh38]
Chr2:50280601 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+9C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002065444]|not specified [RCV000614741] Chr2:51027493 [GRCh38]
Chr2:51254631 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.261C>T (p.Gly87=) single nucleotide variant not specified [RCV000614751] Chr2:51028013 [GRCh38]
Chr2:51255151 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.537C>T (p.Pro179=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002062940]|not specified [RCV000614847] Chr2:51027737 [GRCh38]
Chr2:51254875 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1059A>C (p.Ala353=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000558951]|not provided [RCV001533802] Chr2:50623389 [GRCh38]
Chr2:50850527 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3375A>G (p.Thr1125=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000924784]|Pitt-Hopkins-like syndrome 2 [RCV003224348]|not specified [RCV000604096] Chr2:50236960 [GRCh38]
Chr2:50464098 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
GRCh37/hg19 2p21-16.2(chr2:47361260-54934153)x1 copy number loss See cases [RCV000512533] Chr2:47361260..54934153 [GRCh37]
Chr2:2p21-16.2		 pathogenic
GRCh37/hg19 2p16.3(chr2:50707763-50793781)x1 copy number loss See cases [RCV000512237] Chr2:50707763..50793781 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.1789C>G (p.Pro597Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002532365]|not provided [RCV000594909] Chr2:50538607 [GRCh38]
Chr2:50765745 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1320+4_1320+7dup duplication Pitt-Hopkins-like syndrome 2 [RCV001408462]|not specified [RCV000600967] Chr2:50620014..50620015 [GRCh38]
Chr2:50847152..50847153 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4485C>T (p.Asn1495=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000869466]|not provided [RCV001719094] Chr2:49921983 [GRCh38]
Chr2:50149121 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2895G>T (p.Val965=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001442988]|not provided [RCV001712647] Chr2:50496080 [GRCh38]
Chr2:50723218 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3030_3041dup (p.Thr1011_Thr1014dup) duplication not provided [RCV000658446] Chr2:50495933..50495934 [GRCh38]
Chr2:50723071..50723072 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.832+2dup duplication Inborn genetic diseases [RCV002369907]|Pitt-Hopkins-like syndrome 2 [RCV000698740] Chr2:50921866..50921867 [GRCh38]
Chr2:51149004..51149005 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.446T>C (p.Val149Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000698776] Chr2:51027828 [GRCh38]
Chr2:51254966 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.348C>A (p.Ser116Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000660502] Chr2:51027926 [GRCh38]
Chr2:51255064 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1		 pathogenic
NM_001330078.2(NRXN1):c.773-304_790+128del deletion not provided [RCV000677986] Chr2:50925810..50926259 [GRCh38]
Chr2:51152948..51153397 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.1885A>C (p.Thr629Pro) single nucleotide variant Inborn genetic diseases [RCV002312776]|Pitt-Hopkins-like syndrome 2 [RCV002532998] Chr2:50538511 [GRCh38]
Chr2:50765649 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50598358-50625932)x1 copy number loss not provided [RCV000681967] Chr2:50598358..50625932 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51216517-51272118)x1 copy number loss not provided [RCV000681977] Chr2:51216517..51272118 [GRCh37]
Chr2:2p16.3		 likely pathogenic
GRCh37/hg19 2p16.3(chr2:50743869-50803486)x1 copy number loss not provided [RCV000681979] Chr2:50743869..50803486 [GRCh37]
Chr2:2p16.3		 likely pathogenic
GRCh37/hg19 2p16.3(chr2:50878157-50948464)x1 copy number loss not provided [RCV000681985] Chr2:50878157..50948464 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51183215-51263065)x1 copy number loss not provided [RCV000681993] Chr2:51183215..51263065 [GRCh37]
Chr2:2p16.3		 likely pathogenic
GRCh37/hg19 2p16.3(chr2:50612570-50671502)x1 copy number loss not provided [RCV000681978] Chr2:50612570..50671502 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50941283-51098920)x1 copy number loss not provided [RCV000682018] Chr2:50941283..51098920 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51089735-51263065)x1 copy number loss not provided [RCV000682022] Chr2:51089735..51263065 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51183370-51370150)x1 copy number loss not provided [RCV000682027] Chr2:51183370..51370150 [GRCh37]
Chr2:2p16.3		 likely pathogenic
GRCh37/hg19 2p16.3(chr2:50749598-50905296)x1 copy number loss not provided [RCV000682017] Chr2:50749598..50905296 [GRCh37]
Chr2:2p16.3		 likely pathogenic
GRCh37/hg19 2p16.3(chr2:51125057-51803361)x1 copy number loss not provided [RCV000682099] Chr2:51125057..51803361 [GRCh37]
Chr2:2p16.3		 likely pathogenic
Single allele deletion Chromosome 2p16.3 deletion syndrome [RCV000677934] Chr2:50830687..50945045 [GRCh38]
Chr2:51057824..51172182 [GRCh37]
Chr2:2p16.3		 pathogenic
Single allele deletion Pitt-Hopkins-like syndrome 2 [RCV000678023] Chr2:50289412..51032600 [GRCh38]
Chr2:50516550..51259738 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50590641-50914155)x1 copy number loss not provided [RCV000682059] Chr2:50590641..50914155 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51062935-51463501)x1 copy number loss not provided [RCV000682070] Chr2:51062935..51463501 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50690712-51147280)x1 copy number loss not provided [RCV000682075] Chr2:50690712..51147280 [GRCh37]
Chr2:2p16.3		 pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely pathogenic
NM_001330078.2(NRXN1):c.2814A>G (p.Leu938=) single nucleotide variant Inborn genetic diseases [RCV002317407]|Pitt-Hopkins-like syndrome 2 [RCV001401816]|not provided [RCV001595037] Chr2:50497398 [GRCh38]
Chr2:50724536 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.35T>G (p.Phe12Cys) single nucleotide variant Inborn genetic diseases [RCV002315998]|Pitt-Hopkins-like syndrome 2 [RCV000698366] Chr2:51028239 [GRCh38]
Chr2:51255377 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2323C>T (p.Arg775Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000687698] Chr2:50531251 [GRCh38]
Chr2:50758389 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2346A>C (p.Leu782=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000702904] Chr2:50531228 [GRCh38]
Chr2:50758366 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.12:g.(?_50528605)_(50553045_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000708443] Chr2:50528605..50553045 [GRCh38]
Chr2:50755743..50780183 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.772+1133T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000689979]|not provided [RCV002051884] Chr2:51026369 [GRCh38]
Chr2:51253507 [GRCh37]
Chr2:2p16.3		 likely pathogenic|uncertain significance
NM_001330078.2(NRXN1):c.672G>T (p.Glu224Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000704827] Chr2:51027602 [GRCh38]
Chr2:51254740 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1063C>T single nucleotide variant Inborn genetic diseases [RCV004639337]|Pitt-Hopkins-like syndrome 2 [RCV000704916] Chr2:51026439 [GRCh38]
Chr2:51253577 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3364C>T (p.Pro1122Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000705070] Chr2:50465442 [GRCh38]
Chr2:50692580 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2628A>G (p.Gly876=) single nucleotide variant Inborn genetic diseases [RCV002312266]|Pitt-Hopkins-like syndrome 2 [RCV001392152] Chr2:50497584 [GRCh38]
Chr2:50724722 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.370C>T (p.Arg124Cys) single nucleotide variant Inborn genetic diseases [RCV002316067]|Pitt-Hopkins-like syndrome 2 [RCV001051974]|not provided [RCV001567008] Chr2:51027904 [GRCh38]
Chr2:51255042 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.20A>T (p.Gln7Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000706465] Chr2:51028254 [GRCh38]
Chr2:51255392 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3869G>T (p.Gly1290Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000695299] Chr2:50053530 [GRCh38]
Chr2:50280668 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4220A>G (p.Asn1407Ser) single nucleotide variant Inborn genetic diseases [RCV002331338]|Pitt-Hopkins-like syndrome 2 [RCV000688095]|not provided [RCV001555116] Chr2:49922248 [GRCh38]
Chr2:50149386 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.811G>A (p.Gly271Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000707331]|not provided [RCV001592912] Chr2:50922667 [GRCh38]
Chr2:51149805 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3855C>T (p.Gly1285=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000693370] Chr2:50053544 [GRCh38]
Chr2:50280682 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3775G>C (p.Gly1259Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000695626] Chr2:50054988 [GRCh38]
Chr2:50282126 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2171G>C (p.Ser724Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000707531] Chr2:50531403 [GRCh38]
Chr2:50758541 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2717C>T (p.Pro906Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000696016] Chr2:50497495 [GRCh38]
Chr2:50724633 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.12:g.(?_50465422)_(50623635_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000707915] Chr2:50465422..50623635 [GRCh38]
Chr2:50692560..50850773 [GRCh37]
Chr2:2p16.3		 pathogenic|uncertain significance
NM_001330078.2(NRXN1):c.4088C>A (p.Ala1363Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000688996] Chr2:50053311 [GRCh38]
Chr2:50280449 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1796C>G (p.Thr599Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000696444] Chr2:50538600 [GRCh38]
Chr2:50765738 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2132C>T (p.Ser711Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000696445] Chr2:50538264 [GRCh38]
Chr2:50765402 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.12:g.(?_51026351)_(51032054_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000708307] Chr2:51026351..51032054 [GRCh38]
Chr2:51253489..51259192 [GRCh37]
Chr2:2p16.3		 pathogenic
NC_000002.12:g.(?_50465422)_(50472491_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000708376] Chr2:50465422..50472491 [GRCh38]
Chr2:50692560..50699629 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4247C>G (p.Pro1416Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000703445]|Pitt-Hopkins-like syndrome 2 [RCV002485745] Chr2:49922221 [GRCh38]
Chr2:50149359 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51232182-51326497)x1 copy number loss not provided [RCV000752954] Chr2:51232182..51326497 [GRCh37]
Chr2:2p16.3		 benign
GRCh37/hg19 2p16.3(chr2:51136802-51225497)x3 copy number gain not provided [RCV000752948] Chr2:51136802..51225497 [GRCh37]
Chr2:2p16.3		 benign
GRCh37/hg19 2p16.3(chr2:51191432-51241789)x1 copy number loss not provided [RCV000752952] Chr2:51191432..51241789 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3365-109930GCG[9] microsatellite Inborn genetic diseases [RCV002313507]|not provided [RCV001692274] Chr2:50346871..50346873 [GRCh38]
Chr2:50574009..50574011 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.1377A>G (p.Gly459=) single nucleotide variant Inborn genetic diseases [RCV002313677]|Pitt-Hopkins-like syndrome 2 [RCV002534563] Chr2:50552969 [GRCh38]
Chr2:50780107 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2450G>T (p.Arg817Leu) single nucleotide variant Inborn genetic diseases [RCV002318747]|Pitt-Hopkins-like syndrome 2 [RCV003509591] Chr2:50506542 [GRCh38]
Chr2:50733680 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1275T>C (p.Leu425=) single nucleotide variant Inborn genetic diseases [RCV002317956]|Pitt-Hopkins-like syndrome 2 [RCV003619717] Chr2:50620067 [GRCh38]
Chr2:50847205 [GRCh37]
Chr2:2p16.3		 likely benign
GRCh37/hg19 2p16.3(chr2:51147134-51184223)x1 copy number loss not provided [RCV000752949] Chr2:51147134..51184223 [GRCh37]
Chr2:2p16.3		 likely pathogenic
GRCh37/hg19 2p16.3(chr2:51181831-51520327)x1 copy number loss not provided [RCV000752951] Chr2:51181831..51520327 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.347G>C (p.Ser116Thr) single nucleotide variant Inborn genetic diseases [RCV002317965]|Pitt-Hopkins-like syndrome 2 [RCV005056470] Chr2:51027927 [GRCh38]
Chr2:51255065 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2569T>C (p.Tyr857His) single nucleotide variant Inborn genetic diseases [RCV002316040] Chr2:50497643 [GRCh38]
Chr2:50724781 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3124C>T (p.Leu1042Phe) single nucleotide variant Inborn genetic diseases [RCV002315291] Chr2:50472418 [GRCh38]
Chr2:50699556 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.412G>T (p.Val138Leu) single nucleotide variant Inborn genetic diseases [RCV002317439]|Pitt-Hopkins-like syndrome 2 [RCV001038049] Chr2:51027862 [GRCh38]
Chr2:51255000 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3076T>A (p.Leu1026Ile) single nucleotide variant Inborn genetic diseases [RCV002316689] Chr2:50472466 [GRCh38]
Chr2:50699604 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4405C>A (p.Arg1469=) single nucleotide variant History of neurodevelopmental disorder [RCV000719895] Chr2:49922063 [GRCh38]
Chr2:50149201 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-109865C>T single nucleotide variant Inborn genetic diseases [RCV002317592]|not provided [RCV001568991] Chr2:50346835 [GRCh38]
Chr2:50573973 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2288C>G (p.Ser763Cys) single nucleotide variant Inborn genetic diseases [RCV002318148]|Pitt-Hopkins-like syndrome 2 [RCV003509592] Chr2:50531286 [GRCh38]
Chr2:50758424 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-4G>A single nucleotide variant Inborn genetic diseases [RCV002318171] Chr2:51028277 [GRCh38]
Chr2:51255415 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3353T>G (p.Leu1118Arg) single nucleotide variant Inborn genetic diseases [RCV002318190]|Pitt-Hopkins-like syndrome 2 [RCV001862081] Chr2:50465453 [GRCh38]
Chr2:50692591 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.20A>G (p.Gln7Arg) single nucleotide variant Inborn genetic diseases [RCV002317606] Chr2:51028254 [GRCh38]
Chr2:51255392 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.37C>T (p.Leu13Phe) single nucleotide variant Inborn genetic diseases [RCV002317619]|Pitt-Hopkins-like syndrome 2 [RCV001219129]|not provided [RCV001544850] Chr2:51028237 [GRCh38]
Chr2:51255375 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2888A>G (p.His963Arg) single nucleotide variant Inborn genetic diseases [RCV002318241]|Pitt-Hopkins-like syndrome 2 [RCV001868374] Chr2:50496087 [GRCh38]
Chr2:50723225 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2151G>T (p.Thr717=) single nucleotide variant Inborn genetic diseases [RCV002318261]|Pitt-Hopkins-like syndrome 2 [RCV001408128] Chr2:50531423 [GRCh38]
Chr2:50758561 [GRCh37]
Chr2:2p16.3		 likely benign
NC_000002.12:g.(?_50346671)_(50623635_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000813977] Chr2:50346671..50623635 [GRCh38]
Chr2:50573809..50850773 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51224976-51225497)x0 copy number loss not provided [RCV000752953] Chr2:51224976..51225497 [GRCh37]
Chr2:2p16.3		 benign
GRCh37/hg19 2p16.3(chr2:51241789-51411126)x1 copy number loss not provided [RCV000752955] Chr2:51241789..51411126 [GRCh37]
Chr2:2p16.3		 benign
NC_000002.12:g.(?_51001206)_(51200739_?)del deletion Autism [RCV000754266] Chr2:51001206..51200739 [GRCh38]
Chr2:2p16.3		 pathogenic
NC_000002.12:g.(?_50721552)_(50944617_?)del deletion Schizophrenia [RCV000754263] Chr2:50721552..50944617 [GRCh38]
Chr2:2p16.3		 pathogenic
NC_000002.12:g.(?_50836961)_(51084060_?)del deletion Schizophrenia [RCV000754264] Chr2:50836961..51084060 [GRCh38]
Chr2:2p16.3		 pathogenic
NC_000002.12:g.(?_50975328)_(51121693_?)del deletion Schizophrenia [RCV000754265] Chr2:50975328..51121693 [GRCh38]
Chr2:2p16.3		 pathogenic
NC_000002.12:g.(?_50496341)_(51317388_?)del deletion Autism [RCV000754262] Chr2:50496341..51317388 [GRCh38]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50605728-50618708)x3 copy number gain not provided [RCV000740426] Chr2:50605728..50618708 [GRCh37]
Chr2:2p16.3		 benign
GRCh37/hg19 2p16.3(chr2:50816879-50885859)x1 copy number loss not provided [RCV000740427] Chr2:50816879..50885859 [GRCh37]
Chr2:2p16.3		 benign
GRCh37/hg19 2p16.3(chr2:50882657-50947044)x1 copy number loss not provided [RCV000740428] Chr2:50882657..50947044 [GRCh37]
Chr2:2p16.3		 benign
GRCh37/hg19 2p16.3(chr2:50895613-50947044)x1 copy number loss not provided [RCV000740429] Chr2:50895613..50947044 [GRCh37]
Chr2:2p16.3		 benign
GRCh37/hg19 2p16.3(chr2:50983186-51082754)x1 copy number loss not provided [RCV000740430] Chr2:50983186..51082754 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51070358-51411126)x1 copy number loss not provided [RCV000740431] Chr2:51070358..51411126 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3718+307T>G single nucleotide variant not provided [RCV001539820] Chr2:50091016 [GRCh38]
Chr2:50318154 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2510G>T (p.Gly837Val) single nucleotide variant not provided [RCV001545075] Chr2:50497702 [GRCh38]
Chr2:50724840 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4129-279T>C single nucleotide variant not provided [RCV001572608] Chr2:49944070 [GRCh38]
Chr2:50171208 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-109721G>T single nucleotide variant NRXN1-related disorder [RCV004536199]|not provided [RCV001567802] Chr2:50346691 [GRCh38]
Chr2:50573829 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3771A>G (p.Arg1257=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000939849]|not provided [RCV001776071] Chr2:50054992 [GRCh38]
Chr2:50282130 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1551_1555del (p.Ile517_Leu518insTer) deletion not provided [RCV000762267] Chr2:50552791..50552795 [GRCh38]
Chr2:50779929..50779933 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.4130C>A (p.Thr1377Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002569051]|not provided [RCV001571150] Chr2:49943790 [GRCh38]
Chr2:50170928 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1159-185C>G single nucleotide variant not provided [RCV001569339] Chr2:50620368 [GRCh38]
Chr2:50847506 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-109846T>C single nucleotide variant not provided [RCV001577154] Chr2:50346816 [GRCh38]
Chr2:50573954 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50489928-50514746)x1 copy number loss not provided [RCV001005262] Chr2:50489928..50514746 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4257C>G (p.Gly1419=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001044830] Chr2:49922211 [GRCh38]
Chr2:50149349 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.773-186A>G single nucleotide variant not provided [RCV001585057] Chr2:50926141 [GRCh38]
Chr2:51153279 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3244+274dup duplication not provided [RCV001551813] Chr2:50472019..50472020 [GRCh38]
Chr2:50699157..50699158 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-109931_3365-109930insGTC insertion Inborn genetic diseases [RCV002334616]|not provided [RCV001575423] Chr2:50346900..50346901 [GRCh38]
Chr2:50574038..50574039 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NC_000002.12:g.51032510_51032517del deletion not provided [RCV001576393] Chr2:51032507..51032514 [GRCh38]
Chr2:51259645..51259652 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2536A>G (p.Asn846Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001068206] Chr2:50497676 [GRCh38]
Chr2:50724814 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1494A>G (p.Ala498=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002542161] Chr2:50552852 [GRCh38]
Chr2:50779990 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.534G>A (p.Glu178=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001418847] Chr2:51027740 [GRCh38]
Chr2:51254878 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1326A>G (p.Val442=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000982744] Chr2:50553020 [GRCh38]
Chr2:50780158 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3822A>C (p.Thr1274=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001419817]|not provided [RCV000921699] Chr2:50053577 [GRCh38]
Chr2:50280715 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2970C>T (p.Asn990=) single nucleotide variant Inborn genetic diseases [RCV002319996]|Pitt-Hopkins-like syndrome 2 [RCV000868456] Chr2:50496005 [GRCh38]
Chr2:50723143 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4216+9A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000925833] Chr2:49943695 [GRCh38]
Chr2:50170833 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1965T>C (p.Asp655=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005092746] Chr2:50538431 [GRCh38]
Chr2:50765569 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2643C>T (p.Asp881=) single nucleotide variant Inborn genetic diseases [RCV002434103]|Pitt-Hopkins-like syndrome 2 [RCV002064591] Chr2:50497569 [GRCh38]
Chr2:50724707 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1159-4C>A single nucleotide variant not provided [RCV000904176] Chr2:50620187 [GRCh38]
Chr2:50847325 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.588C>G (p.Pro196=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000863969] Chr2:51027686 [GRCh38]
Chr2:51254824 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.219G>A (p.Glu73=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000865619]|not provided [RCV001615063] Chr2:51028055 [GRCh38]
Chr2:51255193 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.2841G>A (p.Gly947=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000929375] Chr2:50497371 [GRCh38]
Chr2:50724509 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3189G>A (p.Pro1063=) single nucleotide variant NRXN1-related disorder [RCV004536116]|Pitt-Hopkins-like syndrome 2 [RCV001058065] Chr2:50472353 [GRCh38]
Chr2:50699491 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2458A>C (p.Ser820Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001034839] Chr2:50506534 [GRCh38]
Chr2:50733672 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2045G>C (p.Ser682Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001061405] Chr2:50538351 [GRCh38]
Chr2:50765489 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1097C>T (p.Ala366Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001037440] Chr2:50623351 [GRCh38]
Chr2:50850489 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1598C>T (p.Pro533Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001051522] Chr2:50552748 [GRCh38]
Chr2:50779886 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2336C>T (p.Thr779Met) single nucleotide variant Inborn genetic diseases [RCV002445239]|Pitt-Hopkins-like syndrome 2 [RCV001043099] Chr2:50531238 [GRCh38]
Chr2:50758376 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.861A>G (p.Lys287=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001062066] Chr2:50623587 [GRCh38]
Chr2:50850725 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.1783C>T (p.Arg595Cys) single nucleotide variant Chromosome 2p16.3 deletion syndrome [RCV001809966]|Pitt-Hopkins-like syndrome 2 [RCV001049963] Chr2:50538613 [GRCh38]
Chr2:50765751 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2799C>G (p.Phe933Leu) single nucleotide variant Inborn genetic diseases [RCV004958365]|Pitt-Hopkins-like syndrome 2 [RCV001035789]|not provided [RCV001759725] Chr2:50497413 [GRCh38]
Chr2:50724551 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3005C>T (p.Thr1002Ile) single nucleotide variant Inborn genetic diseases [RCV005372526]|Pitt-Hopkins-like syndrome 2 [RCV001052443] Chr2:50495970 [GRCh38]
Chr2:50723108 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3865C>A (p.Gln1289Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001038595] Chr2:50053534 [GRCh38]
Chr2:50280672 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.302C>T (p.Ala101Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001054145] Chr2:51027972 [GRCh38]
Chr2:51255110 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2257G>A (p.Gly753Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001052114] Chr2:50531317 [GRCh38]
Chr2:50758455 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.410G>T (p.Trp137Leu) single nucleotide variant Inborn genetic diseases [RCV003363087]|Pitt-Hopkins-like syndrome 2 [RCV001057536] Chr2:51027864 [GRCh38]
Chr2:51255002 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2654A>G (p.Asn885Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001060870] Chr2:50497558 [GRCh38]
Chr2:50724696 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1321-229C>T single nucleotide variant not provided [RCV000826469] Chr2:50553254 [GRCh38]
Chr2:50780392 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3244+131A>T single nucleotide variant not provided [RCV000826478] Chr2:50472167 [GRCh38]
Chr2:50699305 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3546+226T>C single nucleotide variant not provided [RCV000826479] Chr2:50236563 [GRCh38]
Chr2:50463701 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3245-241T>C single nucleotide variant not provided [RCV000826482] Chr2:50465802 [GRCh38]
Chr2:50692940 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3364+121A>T single nucleotide variant not provided [RCV000826483] Chr2:50465321 [GRCh38]
Chr2:50692459 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.664G>A (p.Glu222Lys) single nucleotide variant Inborn genetic diseases [RCV004958127]|Pitt-Hopkins-like syndrome 2 [RCV000808782] Chr2:51027610 [GRCh38]
Chr2:51254748 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.12:g.(?_50538233)_(50553045_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000813348] Chr2:50538233..50553045 [GRCh38]
Chr2:50765371..50780183 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.576G>A (p.Ser192=) single nucleotide variant NRXN1-related disorder [RCV004540130]|Pitt-Hopkins-like syndrome 2 [RCV001424759]|not provided [RCV000828041] Chr2:51027698 [GRCh38]
Chr2:51254836 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3718+8A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000818765] Chr2:50091315 [GRCh38]
Chr2:50318453 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1851G>C (p.Gly617=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001435534] Chr2:50538545 [GRCh38]
Chr2:50765683 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.9G>A (p.Thr3=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509619] Chr2:51028265 [GRCh38]
Chr2:51255403 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2604C>T (p.His868=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000972581] Chr2:50497608 [GRCh38]
Chr2:50724746 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2337G>A (p.Thr779=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001425285]|not provided [RCV000977695] Chr2:50531237 [GRCh38]
Chr2:50758375 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.4047A>G (p.Thr1349=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001452528] Chr2:50053352 [GRCh38]
Chr2:50280490 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.855G>A (p.Thr285=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000873912]|not specified [RCV004997434] Chr2:50623593 [GRCh38]
Chr2:50850731 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.450C>T (p.Phe150=) single nucleotide variant Inborn genetic diseases [RCV002336803]|Pitt-Hopkins-like syndrome 2 [RCV001405434]|not provided [RCV000868884] Chr2:51027824 [GRCh38]
Chr2:51254962 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1209A>G (p.Glu403=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001450656] Chr2:50620133 [GRCh38]
Chr2:50847271 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2967C>T (p.His989=) single nucleotide variant Inborn genetic diseases [RCV002320114]|Pitt-Hopkins-like syndrome 2 [RCV000932023] Chr2:50496008 [GRCh38]
Chr2:50723146 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3618C>T (p.Ile1206=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000981150]|not provided [RCV001575674]|not specified [RCV001819685] Chr2:50091423 [GRCh38]
Chr2:50318561 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.420C>G (p.Val140=) single nucleotide variant Inborn genetic diseases [RCV002332792]|Pitt-Hopkins-like syndrome 2 [RCV000866400] Chr2:51027854 [GRCh38]
Chr2:51254992 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3033G>T (p.Thr1011=) single nucleotide variant Inborn genetic diseases [RCV002320091]|Pitt-Hopkins-like syndrome 2 [RCV000920158] Chr2:50495942 [GRCh38]
Chr2:50723080 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4197G>A (p.Glu1399=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001488871]|not provided [RCV000896949] Chr2:49943723 [GRCh38]
Chr2:50170861 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.522G>A (p.Val174=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001505416] Chr2:51027752 [GRCh38]
Chr2:51254890 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2634A>T (p.Ala878=) single nucleotide variant not provided [RCV000926110] Chr2:50497578 [GRCh38]
Chr2:50724716 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.48C>T (p.Leu16=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001428344] Chr2:51028226 [GRCh38]
Chr2:51255364 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4341C>T (p.Ile1447=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001428300] Chr2:49922127 [GRCh38]
Chr2:50149265 [GRCh37]
Chr2:2p16.3		 likely benign
GRCh37/hg19 2p16.3(chr2:50927073-51249333)x1 copy number loss not provided [RCV001005264] Chr2:50927073..51249333 [GRCh37]
Chr2:2p16.3		 likely pathogenic
GRCh37/hg19 2p16.3(chr2:51125057-51216518)x1 copy number loss Motor development delay [RCV002284314] Chr2:51125057..51216518 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.1159-3T>C single nucleotide variant not provided [RCV003314090] Chr2:50620186 [GRCh38]
Chr2:50847324 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50824330-50996165)x1 copy number loss not provided [RCV001005263] Chr2:50824330..50996165 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2492T>C (p.Met831Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000792998] Chr2:50506500 [GRCh38]
Chr2:50733638 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1158+307dup duplication not provided [RCV000827592] Chr2:50620918..50620919 [GRCh38]
Chr2:50848056..50848057 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.2410C>A (p.Leu804Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000799211] Chr2:50506582 [GRCh38]
Chr2:50733720 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.342G>T (p.Trp114Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000817333] Chr2:51027932 [GRCh38]
Chr2:51255070 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2518A>T (p.Thr840Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000793232] Chr2:50497694 [GRCh38]
Chr2:50724832 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2497+5A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000817022] Chr2:50506490 [GRCh38]
Chr2:50733628 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3071-284G>A single nucleotide variant not provided [RCV000827593] Chr2:50472755 [GRCh38]
Chr2:50699893 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.518C>T (p.Ser173Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000796607]|not provided [RCV001776006] Chr2:51027756 [GRCh38]
Chr2:51254894 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50489928-50514709)x1 copy number loss not provided [RCV001005261] Chr2:50489928..50514709 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3876del (p.Phe1293fs) deletion Pitt-Hopkins-like syndrome 2 [RCV000818853] Chr2:50053523 [GRCh38]
Chr2:50280661 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2879+231T>C single nucleotide variant not provided [RCV000832274] Chr2:50497102 [GRCh38]
Chr2:50724240 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.1320+147T>C single nucleotide variant not provided [RCV000832287] Chr2:50619875 [GRCh38]
Chr2:50847013 [GRCh37]
Chr2:2p16.3		 benign
GRCh37/hg19 2p16.3(chr2:51099779-51490709)x1 copy number loss not provided [RCV001005267] Chr2:51099779..51490709 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.-921-8C>A single nucleotide variant not provided [RCV000828091] Chr2:51029202 [GRCh38]
Chr2:51256340 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1593G>C (p.Lys531Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000813730] Chr2:50552753 [GRCh38]
Chr2:50779891 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4094G>T (p.Arg1365Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000810753] Chr2:50053305 [GRCh38]
Chr2:50280443 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-111062G>A single nucleotide variant not provided [RCV000828961] Chr2:50348032 [GRCh38]
Chr2:50575170 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2879+182T>C single nucleotide variant not provided [RCV000832241] Chr2:50497151 [GRCh38]
Chr2:50724289 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3770G>A (p.Arg1257Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000806612] Chr2:50054993 [GRCh38]
Chr2:50282131 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.76G>A (p.Glu26Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000824207] Chr2:51028198 [GRCh38]
Chr2:51255336 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2313A>G (p.Leu771=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001516084] Chr2:50531261 [GRCh38]
Chr2:50758399 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.821-84A>G single nucleotide variant not provided [RCV000829977] Chr2:50921964 [GRCh38]
Chr2:51149102 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3244+231G>T single nucleotide variant not provided [RCV000826480] Chr2:50472067 [GRCh38]
Chr2:50699205 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.4217-121T>C single nucleotide variant not provided [RCV000826481] Chr2:49922372 [GRCh38]
Chr2:50149510 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3546+227C>T single nucleotide variant not provided [RCV000826503] Chr2:50236562 [GRCh38]
Chr2:50463700 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.65G>A (p.Gly22Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000818406] Chr2:51028209 [GRCh38]
Chr2:51255347 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3071-281A>G single nucleotide variant not provided [RCV000826301] Chr2:50472752 [GRCh38]
Chr2:50699890 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.499C>A (p.Leu167Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000815186] Chr2:51027775 [GRCh38]
Chr2:51254913 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1911C>T (p.Asn637=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000893102] Chr2:50538485 [GRCh38]
Chr2:50765623 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2375-203A>G single nucleotide variant not provided [RCV000826475] Chr2:50506820 [GRCh38]
Chr2:50733958 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.2498-300G>C single nucleotide variant not provided [RCV000826300] Chr2:50498014 [GRCh38]
Chr2:50725152 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.2253A>G (p.Ala751=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000809004]|not provided [RCV001655602] Chr2:50531321 [GRCh38]
Chr2:50758459 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.1760-233A>T single nucleotide variant not provided [RCV000826474] Chr2:50538869 [GRCh38]
Chr2:50766007 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3071-149G>A single nucleotide variant not provided [RCV000826476] Chr2:50472620 [GRCh38]
Chr2:50699758 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.2658C>T (p.Gly886=) single nucleotide variant Inborn genetic diseases [RCV002440626]|Pitt-Hopkins-like syndrome 2 [RCV000792259] Chr2:50497554 [GRCh38]
Chr2:50724692 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.536C>T (p.Pro179Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000795924]|not provided [RCV001796227] Chr2:51027738 [GRCh38]
Chr2:51254876 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1424A>G (p.Asn475Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000805850] Chr2:50552922 [GRCh38]
Chr2:50780060 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50779725-50780163)x1 copy number loss not provided [RCV000997718] Chr2:50779725..50780163 [GRCh37]
Chr2:2p16.3		 likely pathogenic|uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787450] Chr2:51158216..51586885 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3070+115C>A single nucleotide variant not provided [RCV000834248] Chr2:50495790 [GRCh38]
Chr2:50722928 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.4216+113C>G single nucleotide variant not provided [RCV000834444] Chr2:49943591 [GRCh38]
Chr2:50170729 [GRCh37]
Chr2:2p16.3		 benign
GRCh37/hg19 2p16.3(chr2:50524623-50686003)x3 copy number gain not provided [RCV000846749] Chr2:50524623..50686003 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2497+9C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001209722]|not provided [RCV000841656] Chr2:50506486 [GRCh38]
Chr2:50733624 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2143+163T>C single nucleotide variant not provided [RCV000831981] Chr2:50538090 [GRCh38]
Chr2:50765228 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.2268G>A (p.Met756Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000804733] Chr2:50531306 [GRCh38]
Chr2:50758444 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3204T>C (p.Asp1068=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619724]|not provided [RCV000842390] Chr2:50472338 [GRCh38]
Chr2:50699476 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-110075G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002501164]|not provided [RCV000832444] Chr2:50347045 [GRCh38]
Chr2:50574183 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3809-49T>C single nucleotide variant not provided [RCV000832445] Chr2:50053639 [GRCh38]
Chr2:50280777 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2498-302G>T single nucleotide variant not provided [RCV000826299] Chr2:50498016 [GRCh38]
Chr2:50725154 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.2837G>T (p.Ser946Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000798024] Chr2:50497375 [GRCh38]
Chr2:50724513 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+162C>T single nucleotide variant not provided [RCV000826473] Chr2:51027340 [GRCh38]
Chr2:51254478 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3547-313T>C single nucleotide variant not provided [RCV000828969] Chr2:50091807 [GRCh38]
Chr2:50318945 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3546+115T>A single nucleotide variant not provided [RCV000837074] Chr2:50236674 [GRCh38]
Chr2:50463812 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2488G>T (p.Ala830Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000818775] Chr2:50506504 [GRCh38]
Chr2:50733642 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3842C>A (p.Thr1281Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000811683] Chr2:50053557 [GRCh38]
Chr2:50280695 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1321-56A>C single nucleotide variant not provided [RCV000829844] Chr2:50553081 [GRCh38]
Chr2:50780219 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.821-54A>G single nucleotide variant not provided [RCV000829978] Chr2:50921934 [GRCh38]
Chr2:51149072 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.740G>A (p.Arg247Gln) single nucleotide variant Inborn genetic diseases [RCV004028745]|Pitt-Hopkins-like syndrome 2 [RCV000811843]|not provided [RCV004997366] Chr2:51027534 [GRCh38]
Chr2:51254672 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3547-29C>G single nucleotide variant not provided [RCV000830080] Chr2:50091523 [GRCh38]
Chr2:50318661 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.1159-8T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001066729] Chr2:50620191 [GRCh38]
Chr2:50847329 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.-344A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001137007] Chr2:51028617 [GRCh38]
Chr2:51255755 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3630G>T (p.Gly1210=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000812573] Chr2:50091411 [GRCh38]
Chr2:50318549 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.832+135A>T single nucleotide variant not provided [RCV000826471] Chr2:50921734 [GRCh38]
Chr2:51148872 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.833-7C>G single nucleotide variant not provided [RCV000827123] Chr2:50623622 [GRCh38]
Chr2:50850760 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135659.2(NRXN1):c.-1356C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001137126] Chr2:51032415 [GRCh38]
Chr2:51259553 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.821-4A>G single nucleotide variant Inborn genetic diseases [RCV002442773]|Pitt-Hopkins-like syndrome 2 [RCV001512611]|not provided [RCV000827445] Chr2:50921884 [GRCh38]
Chr2:51149022 [GRCh37]
Chr2:2p16.3		 benign|likely benign|uncertain significance
NC_000002.12:g.(?_50921849)_(51032054_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000810681] Chr2:50921849..51032054 [GRCh38]
Chr2:51148987..51259192 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.1320+85C>T single nucleotide variant not provided [RCV000833169] Chr2:50619937 [GRCh38]
Chr2:50847075 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.11C>T (p.Ala4Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000814987] Chr2:51028263 [GRCh38]
Chr2:51255401 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3547-162G>A single nucleotide variant not provided [RCV000837075] Chr2:50091656 [GRCh38]
Chr2:50318794 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.1134+112A>T single nucleotide variant not provided [RCV000837142] Chr2:50623202 [GRCh38]
Chr2:50850340 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.772+102G>C single nucleotide variant not provided [RCV000834247] Chr2:51027400 [GRCh38]
Chr2:51254538 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.2115A>G (p.Thr705=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509614]|not provided [RCV000841467] Chr2:50538281 [GRCh38]
Chr2:50765419 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.-22C>T single nucleotide variant not provided [RCV000841480] Chr2:51028295 [GRCh38]
Chr2:51255433 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.165C>T (p.Ser55=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001496320] Chr2:51028109 [GRCh38]
Chr2:51255247 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.129C>T (p.Phe43=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000940162] Chr2:51028145 [GRCh38]
Chr2:51255283 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1221G>A (p.Met407Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000796976] Chr2:50620121 [GRCh38]
Chr2:50847259 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.202C>G (p.Leu68Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000813426] Chr2:51028072 [GRCh38]
Chr2:51255210 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3244+129C>A single nucleotide variant not provided [RCV000831803] Chr2:50472169 [GRCh38]
Chr2:50699307 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.2497+88C>A single nucleotide variant not provided [RCV000829929] Chr2:50506407 [GRCh38]
Chr2:50733545 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.1321-212A>G single nucleotide variant not provided [RCV000829936] Chr2:50553237 [GRCh38]
Chr2:50780375 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.2497+187T>G single nucleotide variant not provided [RCV000832288] Chr2:50506308 [GRCh38]
Chr2:50733446 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.407A>C (p.Lys136Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000814214] Chr2:51027867 [GRCh38]
Chr2:51255005 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.435G>T (p.Arg145Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000817331]|not provided [RCV004797880] Chr2:51027839 [GRCh38]
Chr2:51254977 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2143+94A>G single nucleotide variant not provided [RCV000830009] Chr2:50538159 [GRCh38]
Chr2:50765297 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2498-37G>T single nucleotide variant not provided [RCV000830085] Chr2:50497751 [GRCh38]
Chr2:50724889 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-110728T>A single nucleotide variant not provided [RCV000830094] Chr2:50347698 [GRCh38]
Chr2:50574836 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.832+63A>G single nucleotide variant not provided [RCV000832473] Chr2:50921806 [GRCh38]
Chr2:51148944 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-110669C>G single nucleotide variant not provided [RCV000832474] Chr2:50347639 [GRCh38]
Chr2:50574777 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1392T>C single nucleotide variant not provided [RCV000827773] Chr2:51026110 [GRCh38]
Chr2:51253248 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1407C>G single nucleotide variant not provided [RCV000830246] Chr2:51026095 [GRCh38]
Chr2:51253233 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3071-58G>A single nucleotide variant not provided [RCV000832780] Chr2:50472529 [GRCh38]
Chr2:50699667 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.543G>A (p.Lys181=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001139145] Chr2:51027731 [GRCh38]
Chr2:51254869 [GRCh37]
Chr2:2p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.59T>G (p.Leu20Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001067477] Chr2:51028215 [GRCh38]
Chr2:51255353 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2787A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001136603] Chr2:49919157 [GRCh38]
Chr2:50146295 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*793C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001136704] Chr2:49921151 [GRCh38]
Chr2:50148289 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1179G>C (p.Gly393=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001136905] Chr2:50620163 [GRCh38]
Chr2:50847301 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-333A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001137006] Chr2:51028606 [GRCh38]
Chr2:51255744 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*540T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001138942] Chr2:49921404 [GRCh38]
Chr2:50148542 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.772+1102del deletion Pitt-Hopkins-like syndrome 2 [RCV001862752]|not provided [RCV001008545] Chr2:51026400 [GRCh38]
Chr2:51253538 [GRCh37]
Chr2:2p16.3		 pathogenic|likely pathogenic
NM_001330078.2(NRXN1):c.772+1070G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001139142] Chr2:51026432 [GRCh38]
Chr2:51253570 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51003258-51209822)x1 copy number loss not provided [RCV001005265] Chr2:51003258..51209822 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51057959-51386797)x1 copy number loss not provided [RCV001005266] Chr2:51057959..51386797 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50130275-50213678)x3 copy number gain not provided [RCV000846986] Chr2:50130275..50213678 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2315del (p.Asp772fs) deletion not provided [RCV001008860] Chr2:50531259 [GRCh38]
Chr2:50758397 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.3049G>C (p.Ala1017Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001228295] Chr2:50495926 [GRCh38]
Chr2:50723064 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3490G>A (p.Val1164Ile) single nucleotide variant Inborn genetic diseases [RCV002451463]|Pitt-Hopkins-like syndrome 2 [RCV001213367] Chr2:50236845 [GRCh38]
Chr2:50463983 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.12:g.(?_50620002)_(50623635_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001031610] Chr2:50847140..50850773 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.1955A>G (p.Gln652Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001215687] Chr2:50538441 [GRCh38]
Chr2:50765579 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3733G>A (p.Glu1245Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001205822] Chr2:50055030 [GRCh38]
Chr2:50282168 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.553C>G (p.Arg185Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001236646] Chr2:51027721 [GRCh38]
Chr2:51254859 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3371C>T (p.Thr1124Met) single nucleotide variant Inborn genetic diseases [RCV004034747]|Pitt-Hopkins-like syndrome 2 [RCV001243347]|not provided [RCV001576882] Chr2:50236964 [GRCh38]
Chr2:50464102 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1381C>G (p.Pro461Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001220920] Chr2:50552965 [GRCh38]
Chr2:50780103 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.256G>A (p.Gly86Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001226641] Chr2:51028018 [GRCh38]
Chr2:51255156 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.157G>A (p.Glu53Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001242849] Chr2:51028117 [GRCh38]
Chr2:51255255 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1113A>G (p.Lys371=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001220360] Chr2:50623335 [GRCh38]
Chr2:50850473 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.805A>G (p.Met269Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001224643] Chr2:50922673 [GRCh38]
Chr2:51149811 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.143C>G (p.Ala48Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001209681]|not provided [RCV004792799] Chr2:51028131 [GRCh38]
Chr2:51255269 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2368A>C (p.Asn790His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001209575]|not provided [RCV001560981] Chr2:50528631 [GRCh38]
Chr2:50755769 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3442C>T (p.Arg1148Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001218116] Chr2:50236893 [GRCh38]
Chr2:50464031 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.569A>T (p.Asn190Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001210103] Chr2:51027705 [GRCh38]
Chr2:51254843 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.814G>A (p.Asp272Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001210173] Chr2:50922664 [GRCh38]
Chr2:51149802 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3995C>T (p.Ser1332Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001209982] Chr2:50053404 [GRCh38]
Chr2:50280542 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1351G>C (p.Glu451Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001238254] Chr2:50552995 [GRCh38]
Chr2:50780133 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2623A>G (p.Asn875Asp) single nucleotide variant Inborn genetic diseases [RCV002436861]|Pitt-Hopkins-like syndrome 2 [RCV001222195]|not provided [RCV002511059] Chr2:50497589 [GRCh38]
Chr2:50724727 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.445G>A (p.Val149Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001236077] Chr2:51027829 [GRCh38]
Chr2:51254967 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3947C>G (p.Ala1316Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001226258] Chr2:50053452 [GRCh38]
Chr2:50280590 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2118C>T (p.Gly706=) single nucleotide variant not provided [RCV003313631] Chr2:50538278 [GRCh38]
Chr2:50765416 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.730_735delinsCTGG (p.Asp244fs) indel Pitt-Hopkins-like syndrome 2 [RCV001245999] Chr2:51027539..51027544 [GRCh38]
Chr2:51254677..51254682 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.*1389T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001143273] Chr2:49920555 [GRCh38]
Chr2:50147693 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*1318A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001143276] Chr2:49920626 [GRCh38]
Chr2:50147764 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.108C>G (p.Ala36=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001143579] Chr2:51028166 [GRCh38]
Chr2:51255304 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2116C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001141427] Chr2:49919828 [GRCh38]
Chr2:50146966 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3524G>A (p.Gly1175Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001068753] Chr2:50236811 [GRCh38]
Chr2:50463949 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2092T>C (p.Tyr698His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001141664] Chr2:50538304 [GRCh38]
Chr2:50765442 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3071-1G>C single nucleotide variant Autism spectrum disorder [RCV003127310] Chr2:50472472 [GRCh38]
Chr2:50699610 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.471dup (p.Leu158fs) duplication Autism spectrum disorder [RCV003128043] Chr2:51027802..51027803 [GRCh38]
Chr2:51254940..51254941 [GRCh37]
Chr2:2p16.3		 pathogenic
NC_000002.11:g.(?_51254620)_(51255411_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV003105498] Chr2:51254620..51255411 [GRCh37]
Chr2:2p16.3		 pathogenic
NC_000002.11:g.(?_51148987)_(51255411_?)dup duplication Pitt-Hopkins-like syndrome 2 [RCV003105506] Chr2:51148987..51255411 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.830A>C (p.Lys277Thr) single nucleotide variant not provided [RCV004776797] Chr2:50921871 [GRCh38]
Chr2:51149009 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.320C>G (p.Thr107Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003104239] Chr2:51027954 [GRCh38]
Chr2:51255092 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_51153056)_(51255411_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV003105501] Chr2:51153056..51255411 [GRCh37]
Chr2:2p16.3		 pathogenic
NC_000002.11:g.(?_51148987)_(51149845_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV003105502] Chr2:51148987..51149845 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50847140)_(50850773_?)dup duplication Pitt-Hopkins-like syndrome 2 [RCV003105508] Chr2:50847140..50850773 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.1759+108T>C single nucleotide variant not provided [RCV001549497] Chr2:50552479 [GRCh38]
Chr2:50779617 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3809-11T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003107166] Chr2:50053601 [GRCh38]
Chr2:50280739 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3430C>T (p.Arg1144Ter) single nucleotide variant Autism spectrum disorder [RCV003322895]|Pitt-Hopkins-like syndrome 2 [RCV003619744]|not provided [RCV001546634] Chr2:50236905 [GRCh38]
Chr2:50464043 [GRCh37]
Chr2:2p16.3		 pathogenic|likely pathogenic
NM_001330078.2(NRXN1):c.2498-7_2498-6del microsatellite Pitt-Hopkins-like syndrome 2 [RCV002072048]|not provided [RCV001551825] Chr2:50497720..50497721 [GRCh38]
Chr2:50724858..50724859 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.321G>A (p.Thr107=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509674]|not provided [RCV001560231] Chr2:51027953 [GRCh38]
Chr2:51255091 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4472C>T (p.Ala1491Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002568397]|not provided [RCV001560272] Chr2:49921996 [GRCh38]
Chr2:50149134 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.690C>T (p.Asn230=) single nucleotide variant Inborn genetic diseases [RCV002360989]|Pitt-Hopkins-like syndrome 2 [RCV002072939]|not provided [RCV001617810] Chr2:51027584 [GRCh38]
Chr2:51254722 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3244+240C>T single nucleotide variant not provided [RCV001722016] Chr2:50472058 [GRCh38]
Chr2:50699196 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3364+46G>A single nucleotide variant not provided [RCV001555778] Chr2:50465396 [GRCh38]
Chr2:50692534 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.833-66285CA[24] microsatellite not provided [RCV001695864] Chr2:50689854..50689855 [GRCh38]
Chr2:50916992..50916993 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.833-66285CA[22] microsatellite not provided [RCV001721573] Chr2:50689855..50689856 [GRCh38]
Chr2:50916993..50916994 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3457G>A (p.Ala1153Thr) single nucleotide variant not provided [RCV001550798] Chr2:50236878 [GRCh38]
Chr2:50464016 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-110030C>A single nucleotide variant not provided [RCV001551020] Chr2:50347000 [GRCh38]
Chr2:50574138 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.832+82138A>G single nucleotide variant not provided [RCV001693189] Chr2:50839731 [GRCh38]
Chr2:51066869 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3546+211del deletion not provided [RCV001614006] Chr2:50236578 [GRCh38]
Chr2:50463716 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.-922+232G>T single nucleotide variant not provided [RCV001639883] Chr2:51031749 [GRCh38]
Chr2:51258887 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3546+195dup duplication not provided [RCV001649562] Chr2:50236577..50236578 [GRCh38]
Chr2:50463715..50463716 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3365-110031G>T single nucleotide variant not provided [RCV001570269] Chr2:50347001 [GRCh38]
Chr2:50574139 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3454C>T (p.Leu1152=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002569004]|not provided [RCV001558924] Chr2:50236881 [GRCh38]
Chr2:50464019 [GRCh37]
Chr2:2p16.3		 likely benign
NC_000002.12:g.51032510_51032523del deletion not provided [RCV001653398] Chr2:51032507..51032520 [GRCh38]
Chr2:51259645..51259658 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.1970G>A (p.Arg657Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002032592]|not provided [RCV001552771] Chr2:50538426 [GRCh38]
Chr2:50765564 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3719-125A>C single nucleotide variant not provided [RCV001559531] Chr2:50055169 [GRCh38]
Chr2:50282307 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4134del (p.Asp1379fs) deletion not provided [RCV001559723] Chr2:49943786 [GRCh38]
Chr2:50170924 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.4128+71C>T single nucleotide variant not provided [RCV001595131] Chr2:50053200 [GRCh38]
Chr2:50280338 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3435C>T (p.Pro1145=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001495339] Chr2:50236900 [GRCh38]
Chr2:50464038 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1845G>T (p.Leu615=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001473369] Chr2:50538551 [GRCh38]
Chr2:50765689 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4344C>T (p.Leu1448=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000914493] Chr2:49922124 [GRCh38]
Chr2:50149262 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3547-10T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000873897] Chr2:50091504 [GRCh38]
Chr2:50318642 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2226T>C (p.Val742=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001447118] Chr2:50531348 [GRCh38]
Chr2:50758486 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4479C>T (p.Ser1493=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001394547] Chr2:49921989 [GRCh38]
Chr2:50149127 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2347+9C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619727] Chr2:50531218 [GRCh38]
Chr2:50758356 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3808+9C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001399779] Chr2:50054946 [GRCh38]
Chr2:50282084 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4437T>C (p.Asn1479=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001452913]|not provided [RCV004569812] Chr2:49922031 [GRCh38]
Chr2:50149169 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.444G>A (p.Thr148=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001400189] Chr2:51027830 [GRCh38]
Chr2:51254968 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4233A>C (p.Ala1411=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000887652] Chr2:49922235 [GRCh38]
Chr2:50149373 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3576T>C (p.Asn1192=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002064848] Chr2:50091465 [GRCh38]
Chr2:50318603 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3954C>T (p.Ile1318=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000977697]|not provided [RCV001570551] Chr2:50053445 [GRCh38]
Chr2:50280583 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3211T>C (p.Phe1071Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001218337] Chr2:50472331 [GRCh38]
Chr2:50699469 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1693G>A (p.Ala565Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001235535] Chr2:50552653 [GRCh38]
Chr2:50779791 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4324G>A (p.Ala1442Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001244843] Chr2:49922144 [GRCh38]
Chr2:50149282 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1948G>A (p.Asp650Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001214546]|not provided [RCV001562222] Chr2:50538448 [GRCh38]
Chr2:50765586 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.524G>A (p.Arg175Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001141767] Chr2:51027750 [GRCh38]
Chr2:51254888 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-995T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001141883] Chr2:51032054 [GRCh38]
Chr2:51259192 [GRCh37]
Chr2:2p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.670G>A (p.Glu224Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001139143] Chr2:51027604 [GRCh38]
Chr2:51254742 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1532C>T (p.Thr511Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001206035] Chr2:50552814 [GRCh38]
Chr2:50779952 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2450G>A (p.Arg817His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001065254]|not provided [RCV004720751] Chr2:50506542 [GRCh38]
Chr2:50733680 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4025C>T (p.Ala1342Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001051664] Chr2:50053374 [GRCh38]
Chr2:50280512 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.542A>G (p.Lys181Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001224351] Chr2:51027732 [GRCh38]
Chr2:51254870 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.12:g.(?_50620002)_(51032054_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001033397] Chr2:50847140..51259192 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.3838G>A (p.Ala1280Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001243611] Chr2:50053561 [GRCh38]
Chr2:50280699 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2446C>T (p.Arg816Trp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001241089] Chr2:50506546 [GRCh38]
Chr2:50733684 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.746G>A (p.Gly249Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001224762] Chr2:51027528 [GRCh38]
Chr2:51254666 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.12:g.(?_50538233)_(50538656_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001031131] Chr2:50765371..50765794 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2013C>T (p.Ser671=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001143481] Chr2:50538383 [GRCh38]
Chr2:50765521 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1418G>A (p.Cys473Tyr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001143483] Chr2:50552928 [GRCh38]
Chr2:50780066 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1116A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001196942] Chr2:51026386 [GRCh38]
Chr2:51253524 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109952G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001197274] Chr2:50346922 [GRCh38]
Chr2:50574060 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.283A>G (p.Ile95Val) single nucleotide variant Inborn genetic diseases [RCV002436857]|Pitt-Hopkins-like syndrome 2 [RCV001221679] Chr2:51027991 [GRCh38]
Chr2:51255129 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1127A>G single nucleotide variant not provided [RCV000934611] Chr2:51026375 [GRCh38]
Chr2:51253513 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.28G>T (p.Gly10Cys) single nucleotide variant not provided [RCV000997144] Chr2:51028246 [GRCh38]
Chr2:51255384 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2385C>T (p.Pro795=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002065803] Chr2:50506607 [GRCh38]
Chr2:50733745 [GRCh37]
Chr2:2p16.3		 likely benign
GRCh37/hg19 2p16.3(chr2:50765391-50765774)x1 copy number loss not provided [RCV000997717] Chr2:50765391..50765774 [GRCh37]
Chr2:2p16.3		 likely pathogenic|uncertain significance
NM_001330078.2(NRXN1):c.181C>T (p.Arg61Cys) single nucleotide variant not provided [RCV004812995] Chr2:51028093 [GRCh38]
Chr2:51255231 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3765A>T (p.Pro1255=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001446623] Chr2:50054998 [GRCh38]
Chr2:50282136 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4129-30181T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000986758]|not provided [RCV004709011] Chr2:49973972 [GRCh38]
Chr2:50201110 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3365-109930GCG[6] microsatellite NRXN1-related disorder [RCV004541984]|not provided [RCV001537331] Chr2:50346871..50346882 [GRCh38]
Chr2:50574009..50574020 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.2068A>G (p.Met690Val) single nucleotide variant not provided [RCV001550974] Chr2:50538328 [GRCh38]
Chr2:50765466 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2189A>G (p.Gln730Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509673]|not provided [RCV001557122] Chr2:50531385 [GRCh38]
Chr2:50758523 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2951A>G (p.Asn984Ser) single nucleotide variant not provided [RCV001562490] Chr2:50496024 [GRCh38]
Chr2:50723162 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109930GCG[8] microsatellite Inborn genetic diseases [RCV002386487]|not provided [RCV001595199] Chr2:50346871..50346876 [GRCh38]
Chr2:50574009..50574014 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NM_001330078.2(NRXN1):c.3719-297A>G single nucleotide variant not provided [RCV001557982] Chr2:50055341 [GRCh38]
Chr2:50282479 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2042T>G (p.Leu681Arg) single nucleotide variant not provided [RCV001582332] Chr2:50538354 [GRCh38]
Chr2:50765492 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3718+86T>C single nucleotide variant not provided [RCV001568901] Chr2:50091237 [GRCh38]
Chr2:50318375 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-110308T>C single nucleotide variant not provided [RCV001561369] Chr2:50347278 [GRCh38]
Chr2:50574416 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.-921-287G>A single nucleotide variant not provided [RCV001561559] Chr2:51029481 [GRCh38]
Chr2:51256619 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3070+43G>T single nucleotide variant not provided [RCV001594524] Chr2:50495862 [GRCh38]
Chr2:50723000 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.4129-247G>A single nucleotide variant not provided [RCV001556263] Chr2:49944038 [GRCh38]
Chr2:50171176 [GRCh37]
Chr2:2p16.3		 likely benign
GRCh37/hg19 2p16.3(chr2:51139206-51602566)x1 copy number loss not provided [RCV001005268] Chr2:51139206..51602566 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51141391-51324495)x1 copy number loss not provided [RCV001005269] Chr2:51141391..51324495 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51248751-51540487)x1 copy number loss not provided [RCV001005270] Chr2:51248751..51540487 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.832+1G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001066155]|not provided [RCV002307675] Chr2:50921868 [GRCh38]
Chr2:51149006 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.443_446dup (p.Phe150fs) duplication not provided [RCV001009313] Chr2:51027827..51027828 [GRCh38]
Chr2:51254965..51254966 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.833-65905G>C single nucleotide variant not provided [RCV001716339] Chr2:50689520 [GRCh38]
Chr2:50916658 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.1760-245G>C single nucleotide variant not provided [RCV001564832] Chr2:50538881 [GRCh38]
Chr2:50766019 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2144-89A>G single nucleotide variant not provided [RCV001637209] Chr2:50531519 [GRCh38]
Chr2:50758657 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.1699T>C (p.Leu567=) single nucleotide variant not provided [RCV001590023] Chr2:50552647 [GRCh38]
Chr2:50779785 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2375-105T>C single nucleotide variant not provided [RCV001675343] Chr2:50506722 [GRCh38]
Chr2:50733860 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.2375-158G>C single nucleotide variant not provided [RCV001719314] Chr2:50506775 [GRCh38]
Chr2:50733913 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3365-109907G>A single nucleotide variant not provided [RCV001587581] Chr2:50346877 [GRCh38]
Chr2:50574015 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2555T>A (p.Ile852Asn) single nucleotide variant not provided [RCV001586787] Chr2:50497657 [GRCh38]
Chr2:50724795 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.832+132237G>A single nucleotide variant not provided [RCV001616882] Chr2:50789632 [GRCh38]
Chr2:51016770 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3365-110013C>A single nucleotide variant not provided [RCV001718299] Chr2:50346983 [GRCh38]
Chr2:50574121 [GRCh37]
Chr2:2p16.3		 benign
GRCh37/hg19 2p16.3(chr2:50298398-50415002)x1 copy number loss not provided [RCV001005259] Chr2:50298398..50415002 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50352345-50520197)x1 copy number loss not provided [RCV001005260] Chr2:50352345..50520197 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.833-66285CA[21] microsatellite not provided [RCV001670589] Chr2:50689855..50689858 [GRCh38]
Chr2:50916993..50916996 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.1759+229C>T single nucleotide variant not provided [RCV001545754] Chr2:50552358 [GRCh38]
Chr2:50779496 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3809-247T>C single nucleotide variant not provided [RCV001722017] Chr2:50053837 [GRCh38]
Chr2:50280975 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.4128+126A>G single nucleotide variant not provided [RCV001722018] Chr2:50053145 [GRCh38]
Chr2:50280283 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3244+244T>C single nucleotide variant not provided [RCV001722019] Chr2:50472054 [GRCh38]
Chr2:50699192 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.832+82561C>T single nucleotide variant not provided [RCV001620815] Chr2:50839308 [GRCh38]
Chr2:51066446 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.2347+53dup duplication not provided [RCV001715655] Chr2:50531171..50531172 [GRCh38]
Chr2:50758309..50758310 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.*12T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001141544] Chr2:49921932 [GRCh38]
Chr2:50149070 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*1348C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001143275] Chr2:49920596 [GRCh38]
Chr2:50147734 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-154A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001143581] Chr2:51028427 [GRCh38]
Chr2:51255565 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*1365A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001143274] Chr2:49920579 [GRCh38]
Chr2:50147717 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.1857A>G (p.Pro619=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001143482] Chr2:50538539 [GRCh38]
Chr2:50765677 [GRCh37]
Chr2:2p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.*2878G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001143170] Chr2:49919066 [GRCh38]
Chr2:50146204 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.*1539C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001143272] Chr2:49920405 [GRCh38]
Chr2:50147543 [GRCh37]
Chr2:2p16.3		 benign
NM_001135659.2(NRXN1):c.-1394G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001137127] Chr2:51032453 [GRCh38]
Chr2:51259591 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1850G>A (p.Gly617Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001072082] Chr2:50538546 [GRCh38]
Chr2:50765684 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1361G>A (p.Arg454Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002560167]|not specified [RCV001193516] Chr2:50552985 [GRCh38]
Chr2:50780123 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*527A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001138943] Chr2:49921417 [GRCh38]
Chr2:50148555 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*381C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001138945] Chr2:49921563 [GRCh38]
Chr2:50148701 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.12:g.(?_49943684)_(49943811_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001033249] Chr2:50170822..50170949 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4130C>T (p.Thr1377Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001069537] Chr2:49943790 [GRCh38]
Chr2:50170928 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2025T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001141429] Chr2:49919919 [GRCh38]
Chr2:50147057 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3244+232_3244+233dup duplication not provided [RCV001587571] Chr2:50472059..50472060 [GRCh38]
Chr2:50699197..50699198 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1758A>G (p.Ser586=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001034864]|not provided [RCV001776094] Chr2:50552588 [GRCh38]
Chr2:50779726 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3139G>C (p.Glu1047Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001139046] Chr2:50472403 [GRCh38]
Chr2:50699541 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-110377T>C single nucleotide variant not provided [RCV001652885] Chr2:50347347 [GRCh38]
Chr2:50574485 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.2787T>A (p.Leu929=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002539725]|not provided [RCV001710941] Chr2:50497425 [GRCh38]
Chr2:50724563 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.622C>G (p.Pro208Ala) single nucleotide variant Inborn genetic diseases [RCV002368618]|Pitt-Hopkins-like syndrome 2 [RCV001866215]|not provided [RCV001590233] Chr2:51027652 [GRCh38]
Chr2:51254790 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.1584A>G (p.Lys528=) single nucleotide variant not provided [RCV001691392] Chr2:50552762 [GRCh38]
Chr2:50779900 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1135-2A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001069413] Chr2:50621251 [GRCh38]
Chr2:50848389 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.655G>A (p.Ala219Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001035714] Chr2:51027619 [GRCh38]
Chr2:51254757 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.833-16192T>C single nucleotide variant not provided [RCV001645881] Chr2:50639807 [GRCh38]
Chr2:50866945 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.833-66285CA[25] microsatellite not provided [RCV001649183] Chr2:50689854..50689855 [GRCh38]
Chr2:50916992..50916993 [GRCh37]
Chr2:2p16.3		 benign
NC_000002.12:g.(?_50236769)_(50346969_?)dup duplication Pitt-Hopkins-like syndrome 2 [RCV001033736] Chr2:50463907..50574107 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.3244+240C>G single nucleotide variant not provided [RCV001536617] Chr2:50472058 [GRCh38]
Chr2:50699196 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2374+287T>G single nucleotide variant not provided [RCV001648478] Chr2:50528338 [GRCh38]
Chr2:50755476 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.2497+27del deletion not provided [RCV001586248] Chr2:50506468 [GRCh38]
Chr2:50733606 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3364+222G>A single nucleotide variant not provided [RCV001614899] Chr2:50465220 [GRCh38]
Chr2:50692358 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.771A>G (p.Gln257=) single nucleotide variant Inborn genetic diseases [RCV002405274]|Pitt-Hopkins-like syndrome 2 [RCV005094880]|not provided [RCV001667764] Chr2:51027503 [GRCh38]
Chr2:51254641 [GRCh37]
Chr2:2p16.3		 benign|likely benign|uncertain significance
NM_001330078.2(NRXN1):c.122C>T (p.Thr41Met) single nucleotide variant Inborn genetic diseases [RCV002372772]|Pitt-Hopkins-like syndrome 2 [RCV001041517] Chr2:51028152 [GRCh38]
Chr2:51255290 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2405A>G (p.Tyr802Cys) single nucleotide variant NRXN1-related disorder [RCV004726990]|Pitt-Hopkins-like syndrome 2 [RCV001220310] Chr2:50506587 [GRCh38]
Chr2:50733725 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2285T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001138844] Chr2:49919659 [GRCh38]
Chr2:50146797 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4444G>A (p.Val1482Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001199339] Chr2:49922024 [GRCh38]
Chr2:50149162 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*582G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001136705] Chr2:49921362 [GRCh38]
Chr2:50148500 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1158+21G>A single nucleotide variant NRXN1-related disorder [RCV004545143]|Pitt-Hopkins-like syndrome 2 [RCV001236846] Chr2:50621205 [GRCh38]
Chr2:50848343 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2582T>C (p.Val861Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001050479] Chr2:50497630 [GRCh38]
Chr2:50724768 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1861A>G (p.Asn621Asp) single nucleotide variant Inborn genetic diseases [RCV004960403]|Pitt-Hopkins-like syndrome 2 [RCV001060869] Chr2:50538535 [GRCh38]
Chr2:50765673 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2745G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001136604] Chr2:49919199 [GRCh38]
Chr2:50146337 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*434A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001138944] Chr2:49921510 [GRCh38]
Chr2:50148648 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1270G>A (p.Asp424Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001136904] Chr2:50620072 [GRCh38]
Chr2:50847210 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-371A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001137008] Chr2:51028644 [GRCh38]
Chr2:51255782 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*1692T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001141431] Chr2:49920252 [GRCh38]
Chr2:50147390 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.*1583T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001141432] Chr2:49920361 [GRCh38]
Chr2:50147499 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1048G>C (p.Ala350Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001039234] Chr2:50623400 [GRCh38]
Chr2:50850538 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.475C>T (p.Pro159Ser) single nucleotide variant Inborn genetic diseases [RCV003283911]|Pitt-Hopkins-like syndrome 2 [RCV001053434] Chr2:51027799 [GRCh38]
Chr2:51254937 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2714A>C (p.Asp905Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001057827] Chr2:50497498 [GRCh38]
Chr2:50724636 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.389T>C (p.Ile130Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001202053] Chr2:51027885 [GRCh38]
Chr2:51255023 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3799C>T (p.Leu1267Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001234128] Chr2:50054964 [GRCh38]
Chr2:50282102 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*3186A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001143169] Chr2:49918758 [GRCh38]
Chr2:50145896 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*1201A>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001143277] Chr2:49920743 [GRCh38]
Chr2:50147881 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4128+3G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001051867]|See cases [RCV002252302] Chr2:50053268 [GRCh38]
Chr2:50280406 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-133G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001143580] Chr2:51028406 [GRCh38]
Chr2:51255544 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.12:g.(?_50921849)_(51032054_?)dup duplication Pitt-Hopkins-like syndrome 2 [RCV001033591] Chr2:51148987..51259192 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3205G>A (p.Ala1069Thr) single nucleotide variant Inborn genetic diseases [RCV002322009]|Pitt-Hopkins-like syndrome 2 [RCV001205185] Chr2:50472337 [GRCh38]
Chr2:50699475 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2138A>G (p.Glu713Gly) single nucleotide variant Inborn genetic diseases [RCV002447218]|Pitt-Hopkins-like syndrome 2 [RCV001245806]|not provided [RCV001551126] Chr2:50538258 [GRCh38]
Chr2:50765396 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2534A>G (p.His845Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001040837]|not provided [RCV004702593] Chr2:50497678 [GRCh38]
Chr2:50724816 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1769C>G (p.Ser590Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001216579] Chr2:50538627 [GRCh38]
Chr2:50765765 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2731A>G (p.Thr911Ala) single nucleotide variant Intellectual disability [RCV001251855]|Pitt-Hopkins-like syndrome 2 [RCV001070408] Chr2:50497481 [GRCh38]
Chr2:50724619 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3311G>A (p.Gly1104Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001215573] Chr2:50465495 [GRCh38]
Chr2:50692633 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1162A>T (p.Thr388Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001219583] Chr2:50620180 [GRCh38]
Chr2:50847318 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1066T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001039848] Chr2:51026436 [GRCh38]
Chr2:51253574 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4228C>T (p.Arg1410Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001064291] Chr2:49922240 [GRCh38]
Chr2:50149378 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*1842A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001141430] Chr2:49920102 [GRCh38]
Chr2:50147240 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-798G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001141882] Chr2:51029071 [GRCh38]
Chr2:51256209 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2132C>G (p.Ser711Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001246509] Chr2:50538264 [GRCh38]
Chr2:50765402 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1696C>A (p.Leu566Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001064763] Chr2:50552650 [GRCh38]
Chr2:50779788 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*803C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001136703] Chr2:49921141 [GRCh38]
Chr2:50148279 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1811G>A (p.Ser604Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001040959] Chr2:50538585 [GRCh38]
Chr2:50765723 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*2105A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001141428] Chr2:49919839 [GRCh38]
Chr2:50146977 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.*232G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001141543] Chr2:49921712 [GRCh38]
Chr2:50148850 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.40C>A (p.Leu14Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001062694] Chr2:51028234 [GRCh38]
Chr2:51255372 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.*3204C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001143168] Chr2:49918740 [GRCh38]
Chr2:50145878 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2844T>A (p.Asp948Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001056846] Chr2:50497368 [GRCh38]
Chr2:50724506 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4229G>A (p.Arg1410Gln) single nucleotide variant Inborn genetic diseases [RCV002327409]|Pitt-Hopkins-like syndrome 2 [RCV001143378] Chr2:49922239 [GRCh38]
Chr2:50149377 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001135659.2(NRXN1):c.-1167C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001143676] Chr2:51032226 [GRCh38]
Chr2:51259364 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2179A>G (p.Met727Val) single nucleotide variant Inborn genetic diseases [RCV004958372]|Pitt-Hopkins-like syndrome 2 [RCV001038845]|not provided [RCV004693468] Chr2:50531395 [GRCh38]
Chr2:50758533 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.158A>C (p.Glu53Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001063641] Chr2:51028116 [GRCh38]
Chr2:51255254 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3647G>A (p.Arg1216His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001070705] Chr2:50091394 [GRCh38]
Chr2:50318532 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3634T>A (p.Tyr1212Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001063829] Chr2:50091407 [GRCh38]
Chr2:50318545 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-59_772+1193del deletion Pitt-Hopkins-like syndrome 2 [RCV001253604] Chr2:51026309..51028332 [GRCh38]
Chr2:51253447..51255470 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.3112T>G (p.Ser1038Ala) single nucleotide variant Intellectual disability [RCV001251854] Chr2:50472430 [GRCh38]
Chr2:50699568 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1697T>C (p.Leu566Pro) single nucleotide variant Intellectual disability [RCV001251859] Chr2:50552649 [GRCh38]
Chr2:50779787 [GRCh37]
Chr2:2p16.3		 likely benign
GRCh37/hg19 2p16.3(chr2:51027613-51147477)x1 copy number loss not provided [RCV001258516] Chr2:51027613..51147477 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50369632-50470202)x1 copy number loss not provided [RCV001260159] Chr2:50369632..50470202 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50889123-51375539)x1 copy number loss not provided [RCV001260160] Chr2:50889123..51375539 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51062934-51433041)x1 copy number loss See cases [RCV002285050] Chr2:51062934..51433041 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.558C>G (p.Asp186Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001294803] Chr2:51027716 [GRCh38]
Chr2:51254854 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50860228-50971175)x1 copy number loss not provided [RCV001258522] Chr2:50860228..50971175 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50170822)_(50170949_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001313638] Chr2:50170822..50170949 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2207A>G (p.His736Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509712]|not provided [RCV002284810] Chr2:50531367 [GRCh38]
Chr2:50758505 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1606A>G (p.Ile536Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001304238] Chr2:50552740 [GRCh38]
Chr2:50779878 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3586G>A (p.Asp1196Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001313744] Chr2:50091455 [GRCh38]
Chr2:50318593 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4000A>G (p.Met1334Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001303543] Chr2:50053399 [GRCh38]
Chr2:50280537 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50850691-51358881) copy number loss Motor delay [RCV001291992] Chr2:50850691..51358881 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2948T>C (p.Leu983Pro) single nucleotide variant Inborn genetic diseases [RCV001266829] Chr2:50496027 [GRCh38]
Chr2:50723165 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.704C>T (p.Ser235Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001302892] Chr2:51027570 [GRCh38]
Chr2:51254708 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50977215-51085505)x1 copy number loss not provided [RCV001258523] Chr2:50977215..51085505 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50927073-50996165)x1 copy number loss not provided [RCV001258524] Chr2:50927073..50996165 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50975815-51328796)x1 copy number loss not provided [RCV001260161] Chr2:50975815..51328796 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51141570-51272118)x1 copy number loss not provided [RCV001260162] Chr2:51141570..51272118 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50947539-51512609)x1 copy number loss not provided [RCV001260163] Chr2:50947539..51512609 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51150534-51188464)x1 copy number loss not provided [RCV001260164] Chr2:51150534..51188464 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51148272-51363855)x1 copy number loss not provided [RCV001260165] Chr2:51148272..51363855 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51080862-51411126)x1 copy number loss not provided [RCV001260166] Chr2:51080862..51411126 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50770184-50813046)x1 copy number loss not provided [RCV001260167] Chr2:50770184..50813046 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50379638-50453751)x1 copy number loss not provided [RCV001260168] Chr2:50379638..50453751 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.832+42589_832+123997del deletion Pitt-Hopkins-like syndrome 2 [RCV004799515] Chr2:50797872..50879280 [GRCh38]
Chr2:51025012..51106420 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50250334-50272270)x1 copy number loss not provided [RCV001258518] Chr2:50250334..50272270 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51089735-51118081)x1 copy number loss not provided [RCV001258521] Chr2:51089735..51118081 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51259520-51301447)x1 copy number loss not provided [RCV001258525] Chr2:51259520..51301447 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1546C>G (p.Leu516Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001350345] Chr2:50552800 [GRCh38]
Chr2:50779938 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3988G>T (p.Val1330Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001337894] Chr2:50053411 [GRCh38]
Chr2:50280549 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4264G>T (p.Glu1422Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001328581] Chr2:49922204 [GRCh38]
Chr2:50149342 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.3344G>C (p.Ser1115Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001352260] Chr2:50465462 [GRCh38]
Chr2:50692600 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.393C>G (p.Asp131Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001338121] Chr2:51027881 [GRCh38]
Chr2:51255019 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3458C>T (p.Ala1153Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001336241] Chr2:50236877 [GRCh38]
Chr2:50464015 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1128_772+1129del deletion Pitt-Hopkins-like syndrome 2 [RCV001352900]|not provided [RCV001528238] Chr2:51026373..51026374 [GRCh38]
Chr2:51253511..51253512 [GRCh37]
Chr2:2p16.3		 pathogenic|likely pathogenic
NM_001330078.2(NRXN1):c.337G>C (p.Ala113Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001307079] Chr2:51027937 [GRCh38]
Chr2:51255075 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.8C>T (p.Thr3Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001320024] Chr2:51028266 [GRCh38]
Chr2:51255404 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1577A>T (p.His526Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001320314] Chr2:50552769 [GRCh38]
Chr2:50779907 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3743C>G (p.Ala1248Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001350826] Chr2:50055020 [GRCh38]
Chr2:50282158 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3926A>G (p.Asn1309Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001302322] Chr2:50053473 [GRCh38]
Chr2:50280611 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3162A>G (p.Ala1054=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001299019] Chr2:50472380 [GRCh38]
Chr2:50699518 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3841A>T (p.Thr1281Ser) single nucleotide variant Inborn genetic diseases [RCV004036669]|Pitt-Hopkins-like syndrome 2 [RCV001351979] Chr2:50053558 [GRCh38]
Chr2:50280696 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3070+3A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001348480] Chr2:50495902 [GRCh38]
Chr2:50723040 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50573809)_(50692719_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001304271] Chr2:50573809..50692719 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.821G>A (p.Gly274Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001318467] Chr2:50921880 [GRCh38]
Chr2:51149018 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3218A>G (p.Asn1073Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001312468] Chr2:50472324 [GRCh38]
Chr2:50699462 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.780C>G (p.Asn260Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001326006] Chr2:50925948 [GRCh38]
Chr2:51153086 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50692570)_(50850763_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001304273] Chr2:50692570..50850763 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3463G>C (p.Gly1155Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001349968] Chr2:50236872 [GRCh38]
Chr2:50464010 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.221G>C (p.Gly74Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001343689] Chr2:51028053 [GRCh38]
Chr2:51255191 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3387C>A (p.Ser1129Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001300006]|not provided [RCV004762060] Chr2:50236948 [GRCh38]
Chr2:50464086 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3082A>G (p.Ile1028Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001296977]|not provided [RCV001552425] Chr2:50472460 [GRCh38]
Chr2:50699598 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.697G>A (p.Val233Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001363090] Chr2:51027577 [GRCh38]
Chr2:51254715 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3004A>C (p.Thr1002Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001308136] Chr2:50495971 [GRCh38]
Chr2:50723109 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1159-4C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001328579] Chr2:50620187 [GRCh38]
Chr2:50847325 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1101T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001363434] Chr2:51026401 [GRCh38]
Chr2:51253539 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3990G>C (p.Val1330=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001413020] Chr2:50053409 [GRCh38]
Chr2:50280547 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.299C>G (p.Pro100Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001359745] Chr2:51027975 [GRCh38]
Chr2:51255113 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.88G>A (p.Gly30Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001369156] Chr2:51028186 [GRCh38]
Chr2:51255324 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3547-5del deletion Pitt-Hopkins-like syndrome 2 [RCV001433486] Chr2:50091499 [GRCh38]
Chr2:50318637 [GRCh37]
Chr2:2p16.3		 likely benign
NC_000002.11:g.(?_50149062)_(50282202_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001304272] Chr2:50149062..50282202 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.820+10C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001397107] Chr2:50922648 [GRCh38]
Chr2:51149786 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4242A>G (p.Arg1414=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001397124] Chr2:49922226 [GRCh38]
Chr2:50149364 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1694C>T (p.Ala565Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001295275] Chr2:50552652 [GRCh38]
Chr2:50779790 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.83G>C (p.Gly28Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001319832] Chr2:51028191 [GRCh38]
Chr2:51255329 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.476C>G (p.Pro159Arg) single nucleotide variant Inborn genetic diseases [RCV002341717]|Pitt-Hopkins-like syndrome 2 [RCV001346397] Chr2:51027798 [GRCh38]
Chr2:51254936 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2880-3C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001364729] Chr2:50496098 [GRCh38]
Chr2:50723236 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2285A>G (p.Asp762Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001336239] Chr2:50531289 [GRCh38]
Chr2:50758427 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.190C>T (p.Arg64Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001327253] Chr2:51028084 [GRCh38]
Chr2:51255222 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.550A>G (p.Ile184Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001373859] Chr2:51027724 [GRCh38]
Chr2:51254862 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2797T>C (p.Phe933Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001295957] Chr2:50497415 [GRCh38]
Chr2:50724553 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2438G>A (p.Arg813His) single nucleotide variant Inborn genetic diseases [RCV002547046]|Pitt-Hopkins-like syndrome 2 [RCV001345841]|not provided [RCV001563272] Chr2:50506554 [GRCh38]
Chr2:50733692 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1921G>A (p.Val641Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001305602] Chr2:50538475 [GRCh38]
Chr2:50765613 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2596A>G (p.Ile866Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001320337] Chr2:50497616 [GRCh38]
Chr2:50724754 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.131C>T (p.Pro44Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001306821] Chr2:51028143 [GRCh38]
Chr2:51255281 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3390A>T (p.Lys1130Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001368628] Chr2:50236945 [GRCh38]
Chr2:50464083 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_51153056)_(51153113_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001345085] Chr2:51153056..51153113 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2269G>A (p.Ala757Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001316072] Chr2:50531305 [GRCh38]
Chr2:50758443 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50149082)_(50850763_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001319212] Chr2:50149082..50850763 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109764T>C single nucleotide variant not provided [RCV001311191] Chr2:50346734 [GRCh38]
Chr2:50573872 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.549G>C (p.Trp183Cys) single nucleotide variant Inborn genetic diseases [RCV004036522]|Pitt-Hopkins-like syndrome 2 [RCV001347549] Chr2:51027725 [GRCh38]
Chr2:51254863 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3547C>A (p.His1183Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001337203] Chr2:50091494 [GRCh38]
Chr2:50318632 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.176A>G (p.Lys59Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001302313]|not provided [RCV003106187] Chr2:51028098 [GRCh38]
Chr2:51255236 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_47672677)_(51259192_?)dup duplication Pitt-Hopkins-like syndrome 2 [RCV001345333] Chr2:47672677..51259192 [GRCh37]
Chr2:2p21-16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3489C>T (p.Ala1163=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001087630]|not provided [RCV000732176] Chr2:50236846 [GRCh38]
Chr2:50463984 [GRCh37]
Chr2:2p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.832+267C>T single nucleotide variant not provided [RCV000828826] Chr2:50921602 [GRCh38]
Chr2:51148740 [GRCh37]
Chr2:2p16.3		 benign
NC_000002.11:g.(?_50723023)_(50780183_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV003105499] Chr2:50723023..50780183 [GRCh37]
Chr2:2p16.3		 pathogenic
NC_000002.11:g.(?_50463907)_(51255411_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV003105500] Chr2:50463907..51255411 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2251G>A (p.Ala751Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001202659] Chr2:50531323 [GRCh38]
Chr2:50758461 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.295G>C (p.Glu99Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001339443] Chr2:51027979 [GRCh38]
Chr2:51255117 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50149062)_(50170949_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001319211] Chr2:50149062..50170949 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51172123-51314430) copy number loss Delayed speech and language development [RCV001291964] Chr2:51172123..51314430 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.656C>A (p.Ala219Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001319081] Chr2:51027618 [GRCh38]
Chr2:51254756 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3105A>G (p.Thr1035=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001412553] Chr2:50472437 [GRCh38]
Chr2:50699575 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2303G>A (p.Arg768His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001336240]|not provided [RCV001776202] Chr2:50531271 [GRCh38]
Chr2:50758409 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1950T>C (p.Asp650=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001433929] Chr2:50538446 [GRCh38]
Chr2:50765584 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.720G>A (p.Gln240=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001414882] Chr2:51027554 [GRCh38]
Chr2:51254692 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.487C>T (p.Arg163Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001372970]|not provided [RCV005409818] Chr2:51027787 [GRCh38]
Chr2:51254925 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1333AAT[1] (p.Asn446del) microsatellite Pitt-Hopkins-like syndrome 2 [RCV001297028] Chr2:50553008..50553010 [GRCh38]
Chr2:50780146..50780148 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1068C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001322982] Chr2:51026434 [GRCh38]
Chr2:51253572 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1595A>T (p.His532Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001349147] Chr2:50552751 [GRCh38]
Chr2:50779889 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3091G>C (p.Val1031Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001347053] Chr2:50472451 [GRCh38]
Chr2:50699589 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1750G>A (p.Gly584Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001374050] Chr2:50552596 [GRCh38]
Chr2:50779734 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.611T>A (p.Leu204Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001322326] Chr2:51027663 [GRCh38]
Chr2:51254801 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.232T>C (p.Phe78Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001323530] Chr2:51028042 [GRCh38]
Chr2:51255180 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1105T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001347892] Chr2:51026397 [GRCh38]
Chr2:51253535 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4157C>T (p.Ala1386Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001305070] Chr2:49943763 [GRCh38]
Chr2:50170901 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2316C>A (p.Asp772Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001325999]|not provided [RCV001751631] Chr2:50531258 [GRCh38]
Chr2:50758396 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2317G>T (p.Ala773Ser) single nucleotide variant Inborn genetic diseases [RCV002547879]|Pitt-Hopkins-like syndrome 2 [RCV001367987] Chr2:50531257 [GRCh38]
Chr2:50758395 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.355A>G (p.Ile119Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001364314] Chr2:51027919 [GRCh38]
Chr2:51255057 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1104A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001362391] Chr2:51026398 [GRCh38]
Chr2:51253536 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3925A>G (p.Asn1309Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001363865] Chr2:50053474 [GRCh38]
Chr2:50280612 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4436A>G (p.Asn1479Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001363954] Chr2:49922032 [GRCh38]
Chr2:50149170 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2747T>C (p.Val916Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001328580] Chr2:50497465 [GRCh38]
Chr2:50724603 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2479G>T (p.Asp827Tyr) single nucleotide variant Inborn genetic diseases [RCV002539547]|Pitt-Hopkins-like syndrome 2 [RCV001304198] Chr2:50506513 [GRCh38]
Chr2:50733651 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3870C>T (p.Gly1290=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001315557] Chr2:50053529 [GRCh38]
Chr2:50280667 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2714A>T (p.Asp905Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001351049] Chr2:50497498 [GRCh38]
Chr2:50724636 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3546A>G (p.Ile1182Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001305195] Chr2:50236789 [GRCh38]
Chr2:50463927 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4463C>T (p.Pro1488Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001352039] Chr2:49922005 [GRCh38]
Chr2:50149143 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.528G>T (p.Glu176Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001338634] Chr2:51027746 [GRCh38]
Chr2:51254884 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2723C>T (p.Thr908Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001300684] Chr2:50497489 [GRCh38]
Chr2:50724627 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1948G>C (p.Asp650His) single nucleotide variant Inborn genetic diseases [RCV002546230]|Pitt-Hopkins-like syndrome 2 [RCV001327702]|not provided [RCV001566851] Chr2:50538448 [GRCh38]
Chr2:50765586 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4123A>G (p.Ser1375Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001365466] Chr2:50053276 [GRCh38]
Chr2:50280414 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4109C>G (p.Thr1370Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001337328] Chr2:50053290 [GRCh38]
Chr2:50280428 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.202C>T (p.Leu68Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001337900] Chr2:51028072 [GRCh38]
Chr2:51255210 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4070C>A (p.Thr1357Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001365599] Chr2:50053329 [GRCh38]
Chr2:50280467 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1134+9G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001454561] Chr2:50623305 [GRCh38]
Chr2:50850443 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3033G>A (p.Thr1011=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001473197] Chr2:50495942 [GRCh38]
Chr2:50723080 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1341T>C (p.Asp447=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001473313] Chr2:50553005 [GRCh38]
Chr2:50780143 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.303G>T (p.Ala101=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001492327] Chr2:51027971 [GRCh38]
Chr2:51255109 [GRCh37]
Chr2:2p16.3		 likely benign
NC_000002.12:g.50531675_50577825del deletion Pitt-Hopkins-like syndrome 2 [RCV001420594] Chr2:50531675..50577825 [GRCh38]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.309C>T (p.Leu103=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001459306] Chr2:51027965 [GRCh38]
Chr2:51255103 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1760-10T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001439287] Chr2:50538646 [GRCh38]
Chr2:50765784 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2322A>G (p.Gly774=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001463205] Chr2:50531252 [GRCh38]
Chr2:50758390 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-9G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001471753] Chr2:50236979 [GRCh38]
Chr2:50464117 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.627C>G (p.Pro209=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001489078] Chr2:51027647 [GRCh38]
Chr2:51254785 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1082T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001466554] Chr2:51026420 [GRCh38]
Chr2:51253558 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.189C>T (p.Ala63=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001464094] Chr2:51028085 [GRCh38]
Chr2:51255223 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1002C>T (p.Ala334=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001393543] Chr2:50623446 [GRCh38]
Chr2:50850584 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1203G>A (p.Thr401=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001446052]|not provided [RCV004711634] Chr2:50620139 [GRCh38]
Chr2:50847277 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1194G>C (p.Thr398=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001427757] Chr2:50620148 [GRCh38]
Chr2:50847286 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3555A>G (p.Gly1185=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001407187] Chr2:50091486 [GRCh38]
Chr2:50318624 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3063C>T (p.Asp1021=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001418683] Chr2:50495912 [GRCh38]
Chr2:50723050 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3498G>A (p.Val1166=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001449030] Chr2:50236837 [GRCh38]
Chr2:50463975 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.820+7G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001430811] Chr2:50922651 [GRCh38]
Chr2:51149789 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2143+7T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001425125] Chr2:50538246 [GRCh38]
Chr2:50765384 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1116C>T (p.Val372=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001430750] Chr2:50623332 [GRCh38]
Chr2:50850470 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3070+9A>G single nucleotide variant NRXN1-related disorder [RCV004531247]|Pitt-Hopkins-like syndrome 2 [RCV001410229] Chr2:50495896 [GRCh38]
Chr2:50723034 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1140G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001410634] Chr2:51026362 [GRCh38]
Chr2:51253500 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.183C>A (p.Arg61=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001447206] Chr2:51028091 [GRCh38]
Chr2:51255229 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.987T>C (p.Asp329=) single nucleotide variant Inborn genetic diseases [RCV002432134]|Pitt-Hopkins-like syndrome 2 [RCV001410711] Chr2:50623461 [GRCh38]
Chr2:50850599 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.381G>A (p.Thr127=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001437602] Chr2:51027893 [GRCh38]
Chr2:51255031 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3876C>T (p.Pro1292=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001445063] Chr2:50053523 [GRCh38]
Chr2:50280661 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4413C>T (p.Tyr1471=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001428128] Chr2:49922055 [GRCh38]
Chr2:50149193 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3070+10T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001431702] Chr2:50495895 [GRCh38]
Chr2:50723033 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.51G>T (p.Ser17=) single nucleotide variant Inborn genetic diseases [RCV002341976]|Pitt-Hopkins-like syndrome 2 [RCV001442811] Chr2:51028223 [GRCh38]
Chr2:51255361 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.833-66285CA[19] microsatellite not provided [RCV001534425] Chr2:50689855..50689862 [GRCh38]
Chr2:50916993..50917000 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3702C>T (p.Ile1234=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001429664] Chr2:50091339 [GRCh38]
Chr2:50318477 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3639T>C (p.His1213=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001409071] Chr2:50091402 [GRCh38]
Chr2:50318540 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.833-7C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001411843] Chr2:50623622 [GRCh38]
Chr2:50850760 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1158+20C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003771656]|not provided [RCV001536320] Chr2:50621206 [GRCh38]
Chr2:50848344 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3546+210_3546+211del deletion not provided [RCV001527731] Chr2:50236578..50236579 [GRCh38]
Chr2:50463716..50463717 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3594C>T (p.Ile1198=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001478899] Chr2:50091447 [GRCh38]
Chr2:50318585 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.432C>A (p.Arg144=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001457572] Chr2:51027842 [GRCh38]
Chr2:51254980 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3071-29T>C single nucleotide variant not provided [RCV001679680] Chr2:50472500 [GRCh38]
Chr2:50699638 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.832+82320C>A single nucleotide variant not provided [RCV001716595] Chr2:50839549 [GRCh38]
Chr2:51066687 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.2521A>C (p.Arg841=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001454780] Chr2:50497691 [GRCh38]
Chr2:50724829 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3244+232dup duplication not provided [RCV001715743] Chr2:50472059..50472060 [GRCh38]
Chr2:50699197..50699198 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.57G>A (p.Leu19=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001479393] Chr2:51028217 [GRCh38]
Chr2:51255355 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.-922+165C>G single nucleotide variant not provided [RCV001675512] Chr2:51031816 [GRCh38]
Chr2:51258954 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.4125C>G (p.Ser1375Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002573349]|not provided [RCV001582269] Chr2:50053274 [GRCh38]
Chr2:50280412 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2880-234A>G single nucleotide variant not provided [RCV001667565] Chr2:50496329 [GRCh38]
Chr2:50723467 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.833-8T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001497905]|not provided [RCV001685369] Chr2:50623623 [GRCh38]
Chr2:50850761 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1759+16T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002538597]|not provided [RCV001667976] Chr2:50552571 [GRCh38]
Chr2:50779709 [GRCh37]
Chr2:2p16.3		 benign|likely benign
NC_000002.12:g.51032510_51032525del deletion not provided [RCV001716748] Chr2:51032507..51032522 [GRCh38]
Chr2:51259645..51259660 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.1353A>G (p.Glu451=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001498331]|not provided [RCV003416365] Chr2:50552993 [GRCh38]
Chr2:50780131 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3245-120A>C single nucleotide variant not provided [RCV001618976] Chr2:50465681 [GRCh38]
Chr2:50692819 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.303G>A (p.Ala101=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001456971] Chr2:51027971 [GRCh38]
Chr2:51255109 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4104C>T (p.Pro1368=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001485482] Chr2:50053295 [GRCh38]
Chr2:50280433 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3348A>G (p.Gly1116=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001489362] Chr2:50465458 [GRCh38]
Chr2:50692596 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.833-65920A>G single nucleotide variant not provided [RCV001692643] Chr2:50689535 [GRCh38]
Chr2:50916673 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.582C>T (p.Val194=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001481657] Chr2:51027692 [GRCh38]
Chr2:51254830 [GRCh37]
Chr2:2p16.3		 likely benign
NC_000002.11:g.(?_51148997)_(51259192_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001387892] Chr2:51148997..51259192 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.153G>A (p.Glu51=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001490455]|not provided [RCV001788476] Chr2:51028121 [GRCh38]
Chr2:51255259 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4293G>A (p.Thr1431=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001453687]|not provided [RCV001615164] Chr2:49922175 [GRCh38]
Chr2:50149313 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.228C>T (p.Cys76=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001502311] Chr2:51028046 [GRCh38]
Chr2:51255184 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1329T>C (p.Tyr443=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001483026] Chr2:50553017 [GRCh38]
Chr2:50780155 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.258C>T (p.Gly86=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001458373] Chr2:51028016 [GRCh38]
Chr2:51255154 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2220G>A (p.Glu740=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001461592] Chr2:50531354 [GRCh38]
Chr2:50758492 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3711C>T (p.Tyr1237=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001436327] Chr2:50091330 [GRCh38]
Chr2:50318468 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3654G>A (p.Thr1218=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001437123] Chr2:50091387 [GRCh38]
Chr2:50318525 [GRCh37]
Chr2:2p16.3		 likely benign
NC_000002.11:g.(?_50724523)_50808051del deletion Pitt-Hopkins-like syndrome 2 [RCV001379479]   likely pathogenic
NM_001330078.2(NRXN1):c.2703C>T (p.Asn901=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001463782] Chr2:50497509 [GRCh38]
Chr2:50724647 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2370T>C (p.Asn790=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001400983]|not provided [RCV001673051] Chr2:50528629 [GRCh38]
Chr2:50755767 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2640T>C (p.Ile880=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001465197] Chr2:50497572 [GRCh38]
Chr2:50724710 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1024C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001465199] Chr2:51026478 [GRCh38]
Chr2:51253616 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2985G>A (p.Arg995=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001416941] Chr2:50495990 [GRCh38]
Chr2:50723128 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001135659.3:c.(?_-921)_(931+1_932-1)del deletion Autism [RCV001728022]   pathogenic
NC_000002.11:g.(?_50847140)_(50848407_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV003105505] Chr2:50847140..50848407 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1708G>C (p.Val570Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619749]|not provided [RCV001755324] Chr2:50552638 [GRCh38]
Chr2:50779776 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1066del (p.Glu356fs) deletion Autism spectrum disorder [RCV003128042] Chr2:50623382 [GRCh38]
Chr2:50850520 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.874T>C (p.Phe292Leu) single nucleotide variant not provided [RCV005250719] Chr2:50623574 [GRCh38]
Chr2:50850712 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1063G>A (p.Val355Met) single nucleotide variant not provided [RCV003127130] Chr2:50623385 [GRCh38]
Chr2:50850523 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1832A>T (p.Asp611Val) single nucleotide variant Autism spectrum disorder [RCV003127264] Chr2:50538564 [GRCh38]
Chr2:50765702 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1459C>G (p.Pro487Ala) single nucleotide variant Inborn genetic diseases [RCV002388655]|Pitt-Hopkins-like syndrome 2 [RCV003619751]|not provided [RCV001757319] Chr2:50552887 [GRCh38]
Chr2:50780025 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2443G>T (p.Val815Phe) single nucleotide variant not provided [RCV001757507] Chr2:50506549 [GRCh38]
Chr2:50733687 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2780T>C (p.Met927Thr) single nucleotide variant not provided [RCV001757633] Chr2:50497432 [GRCh38]
Chr2:50724570 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1125del (p.Leu376fs) deletion not provided [RCV003238599] Chr2:50623323 [GRCh38]
Chr2:50850461 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3252C>G (p.Ser1084Arg) single nucleotide variant not provided [RCV001776822] Chr2:50465554 [GRCh38]
Chr2:50692692 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3220G>A (p.Gly1074Arg) single nucleotide variant not provided [RCV001759067] Chr2:50472322 [GRCh38]
Chr2:50699460 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.529C>T (p.Arg177Trp) single nucleotide variant not provided [RCV001759107] Chr2:51027745 [GRCh38]
Chr2:51254883 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4271T>G (p.Ile1424Ser) single nucleotide variant not provided [RCV001759028] Chr2:49922197 [GRCh38]
Chr2:50149335 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.12:g.51032512GA[11] microsatellite not provided [RCV001786770] Chr2:51032511..51032530 [GRCh38]
Chr2:51259649..51259668 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3873G>C (p.Gln1291His) single nucleotide variant not provided [RCV001776377] Chr2:50053526 [GRCh38]
Chr2:50280664 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1080A>C (p.Gly360=) single nucleotide variant not provided [RCV001787614] Chr2:50623368 [GRCh38]
Chr2:50850506 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.14T>C (p.Leu5Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002540674]|not provided [RCV001752979] Chr2:51028260 [GRCh38]
Chr2:51255398 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1994C>A (p.Thr665Asn) single nucleotide variant not provided [RCV001753227] Chr2:50538402 [GRCh38]
Chr2:50765540 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4191del (p.Cys1398fs) deletion not provided [RCV001753261] Chr2:49943729 [GRCh38]
Chr2:50170867 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3943G>C (p.Asp1315His) single nucleotide variant not provided [RCV001768311] Chr2:50053456 [GRCh38]
Chr2:50280594 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1053T>C single nucleotide variant not provided [RCV001766078] Chr2:51026449 [GRCh38]
Chr2:51253587 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.660C>T (p.Gly220=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002544174]|not provided [RCV001774843] Chr2:51027614 [GRCh38]
Chr2:51254752 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.772+38479A>T single nucleotide variant not provided [RCV001786240] Chr2:50989023 [GRCh38]
Chr2:51216161 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.358C>A (p.Arg120Ser) single nucleotide variant not provided [RCV001776415] Chr2:51027916 [GRCh38]
Chr2:51255054 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4097G>A (p.Gly1366Glu) single nucleotide variant not provided [RCV001768160] Chr2:50053302 [GRCh38]
Chr2:50280440 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1180A>G (p.Ile394Val) single nucleotide variant not provided [RCV001768227] Chr2:50620162 [GRCh38]
Chr2:50847300 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1158+18T>C single nucleotide variant not provided [RCV001768232] Chr2:50621208 [GRCh38]
Chr2:50848346 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.304A>G (p.Thr102Ala) single nucleotide variant not provided [RCV001768273] Chr2:51027970 [GRCh38]
Chr2:51255108 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3680A>C (p.Gln1227Pro) single nucleotide variant not provided [RCV001768279] Chr2:50091361 [GRCh38]
Chr2:50318499 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1985T>C (p.Val662Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619753]|not provided [RCV001768410] Chr2:50538411 [GRCh38]
Chr2:50765549 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2546C>T (p.Thr849Ile) single nucleotide variant not provided [RCV001800043] Chr2:50497666 [GRCh38]
Chr2:50724804 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.109G>C (p.Glu37Gln) single nucleotide variant not provided [RCV001757397] Chr2:51028165 [GRCh38]
Chr2:51255303 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.713A>G (p.Asp238Gly) single nucleotide variant not provided [RCV001753270] Chr2:51027561 [GRCh38]
Chr2:51254699 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.703T>C (p.Ser235Pro) single nucleotide variant not provided [RCV001753327] Chr2:51027571 [GRCh38]
Chr2:51254709 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3811C>T (p.Arg1271Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002544172]|not provided [RCV001766167] Chr2:50053588 [GRCh38]
Chr2:50280726 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3625del (p.Asp1209fs) deletion Pitt-Hopkins-like syndrome 2 [RCV001782540] Chr2:50091416 [GRCh38]
Chr2:50318554 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.3722A>G (p.Asn1241Ser) single nucleotide variant not provided [RCV001753342] Chr2:50055041 [GRCh38]
Chr2:50282179 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3266A>G (p.Glu1089Gly) single nucleotide variant Inborn genetic diseases [RCV005374804]|Pitt-Hopkins-like syndrome 2 [RCV002544173]|not provided [RCV001766174] Chr2:50465540 [GRCh38]
Chr2:50692678 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2631G>A (p.Met877Ile) single nucleotide variant Inborn genetic diseases [RCV002540656]|Pitt-Hopkins-like syndrome 2 [RCV001868701]|not provided [RCV001758952] Chr2:50497581 [GRCh38]
Chr2:50724719 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.833-66285CA[20] microsatellite not provided [RCV001779642] Chr2:50689855..50689860 [GRCh38]
Chr2:50916993..50916998 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3835C>T (p.Gln1279Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001782541] Chr2:50053564 [GRCh38]
Chr2:50280702 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.3365-109977G>T single nucleotide variant NRXN1-related disorder [RCV004528535]|not provided [RCV001794727] Chr2:50346947 [GRCh38]
Chr2:50574085 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2239C>T (p.Arg747Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001784758]|not provided [RCV002223313] Chr2:50531335 [GRCh38]
Chr2:50758473 [GRCh37]
Chr2:2p16.3		 pathogenic|likely pathogenic
NM_001330078.2(NRXN1):c.832+32536A>G single nucleotide variant not provided [RCV001786649] Chr2:50889333 [GRCh38]
Chr2:51116471 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.833-66350G>T single nucleotide variant not provided [RCV001786732] Chr2:50689965 [GRCh38]
Chr2:50917103 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.328A>G (p.Asn110Asp) single nucleotide variant not provided [RCV001757361] Chr2:51027946 [GRCh38]
Chr2:51255084 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2623A>T (p.Asn875Tyr) single nucleotide variant not provided [RCV001757472] Chr2:50497589 [GRCh38]
Chr2:50724727 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1525C>T (p.Arg509Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619752]|not provided [RCV001757722] Chr2:50552821 [GRCh38]
Chr2:50779959 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.773-13242G>A single nucleotide variant not provided [RCV001756379] Chr2:50939197 [GRCh38]
Chr2:51166335 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.2950A>G (p.Asn984Asp) single nucleotide variant not provided [RCV001757284] Chr2:50496025 [GRCh38]
Chr2:50723163 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.274A>G (p.Ser92Gly) single nucleotide variant not provided [RCV001757442] Chr2:51028000 [GRCh38]
Chr2:51255138 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109918G>T single nucleotide variant not provided [RCV001757610] Chr2:50346888 [GRCh38]
Chr2:50574026 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.188C>T (p.Ala63Val) single nucleotide variant Inborn genetic diseases [RCV002540653]|Pitt-Hopkins-like syndrome 2 [RCV005095070]|not provided [RCV001758909] Chr2:51028086 [GRCh38]
Chr2:51255224 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.549G>A (p.Trp183Ter) single nucleotide variant not provided [RCV001806987] Chr2:51027725 [GRCh38]
Chr2:51254863 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2211G>A (p.Thr737=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509698]|not specified [RCV001817412] Chr2:50531363 [GRCh38]
Chr2:50758501 [GRCh37]
Chr2:2p16.3		 likely benign
GRCh37/hg19 2p16.3(chr2:51027613-51216518) copy number loss not specified [RCV002052659] Chr2:51027613..51216518 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51032041-51189570) copy number loss not specified [RCV002052671] Chr2:51032041..51189570 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51107112-51206342) copy number loss not specified [RCV002052682] Chr2:51107112..51206342 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51234059-51263065) copy number loss not specified [RCV002052726] Chr2:51234059..51263065 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.4078A>G (p.Thr1360Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001930025] Chr2:50053321 [GRCh38]
Chr2:50280459 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50646240-50775949)x1 copy number loss Pitt-Hopkins-like syndrome 2 [RCV001825303] Chr2:50646240..50775949 [GRCh37]
Chr2:2p16.3		 not provided
NM_001330078.2(NRXN1):c.2044A>G (p.Ser682Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002045178]|not specified [RCV003235654] Chr2:50538352 [GRCh38]
Chr2:50765490 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1475C>G (p.Ser492Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001986967] Chr2:50552871 [GRCh38]
Chr2:50780009 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2620T>A (p.Phe874Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001892636] Chr2:50497592 [GRCh38]
Chr2:50724730 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1759+2T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002044353] Chr2:50552585 [GRCh38]
Chr2:50779723 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.186C>G (p.Ser62Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002024512] Chr2:51028088 [GRCh38]
Chr2:51255226 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50847140)_(51153113_?)dup duplication Pitt-Hopkins-like syndrome 2 [RCV002045410] Chr2:50847140..51153113 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.1827G>A (p.Leu609=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001950336] Chr2:50538569 [GRCh38]
Chr2:50765707 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
GRCh37/hg19 2p16.3(chr2:50730130-50897456) copy number loss not specified [RCV002052582] Chr2:50730130..50897456 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.194G>C (p.Gly65Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002045427] Chr2:51028080 [GRCh38]
Chr2:51255218 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_51253489)_(51255411_?)dup duplication Pitt-Hopkins-like syndrome 2 [RCV001928001] Chr2:51253489..51255411 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50980691-51236988) copy number loss not specified [RCV002052637] Chr2:50980691..51236988 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.4021_4022del (p.Thr1341fs) deletion Pitt-Hopkins-like syndrome 2 [RCV001892671] Chr2:50053377..50053378 [GRCh38]
Chr2:50280515..50280516 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50964034-51915187) copy number loss not specified [RCV002052626] Chr2:50964034..51915187 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2386G>T (p.Glu796Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001893838] Chr2:50506606 [GRCh38]
Chr2:50733744 [GRCh37]
Chr2:2p16.3		 pathogenic
NC_000002.11:g.(?_48018046)_(50170949_?)dup duplication Pitt-Hopkins-like syndrome 2 [RCV001893873]|not provided [RCV001893874] Chr2:48018046..50170949 [GRCh37]
Chr2:2p16.3		 uncertain significance|no classifications from unflagged records
NM_001330078.2(NRXN1):c.2314G>T (p.Asp772Tyr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002022018] Chr2:50531260 [GRCh38]
Chr2:50758398 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51248751-51354468)x1 copy number loss not specified [RCV002052737] Chr2:51248751..51354468 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2984G>A (p.Arg995Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001986049] Chr2:50495991 [GRCh38]
Chr2:50723129 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4402A>T (p.Ser1468Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002005470] Chr2:49922066 [GRCh38]
Chr2:50149204 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4286G>A (p.Ser1429Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001894064] Chr2:49922182 [GRCh38]
Chr2:50149320 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50964034-51002770)x1 copy number loss not provided [RCV001834476] Chr2:50964034..51002770 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51002884-51257328)x1 copy number loss not provided [RCV001834521] Chr2:51002884..51257328 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50991242-51158769)x1 copy number loss not provided [RCV001836478] Chr2:50991242..51158769 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.4128+4A>G single nucleotide variant Inborn genetic diseases [RCV002553608]|Pitt-Hopkins-like syndrome 2 [RCV001893149]|not provided [RCV005232703] Chr2:50053267 [GRCh38]
Chr2:50280405 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.164G>C (p.Ser55Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001964745] Chr2:51028110 [GRCh38]
Chr2:51255248 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50838594-51119793) copy number loss not specified [RCV002052604] Chr2:50838594..51119793 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.128T>C (p.Phe43Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002006334] Chr2:51028146 [GRCh38]
Chr2:51255284 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1134+6A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002039971] Chr2:50623308 [GRCh38]
Chr2:50850446 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50995812-51263065) copy number loss not specified [RCV002052648] Chr2:50995812..51263065 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.4442C>T (p.Ala1481Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001986969] Chr2:49922026 [GRCh38]
Chr2:50149164 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51193858-51228505)x1 copy number loss not provided [RCV001827623] Chr2:51193858..51228505 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2792del (p.Phe931fs) deletion Inborn genetic diseases [RCV002441102]|Pitt-Hopkins-like syndrome 2 [RCV002007233]|not provided [RCV004720986] Chr2:50497420 [GRCh38]
Chr2:50724558 [GRCh37]
Chr2:2p16.3		 pathogenic|likely pathogenic
NM_001330078.2(NRXN1):c.2203A>G (p.Met735Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001891694] Chr2:50531371 [GRCh38]
Chr2:50758509 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51125057-51216518) copy number loss not specified [RCV002052693] Chr2:51125057..51216518 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.3118C>G (p.Pro1040Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001892004] Chr2:50472424 [GRCh38]
Chr2:50699562 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50946060-51005515)x1 copy number loss not provided [RCV001829092] Chr2:50946060..51005515 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4038G>C (p.Glu1346Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001910537] Chr2:50053361 [GRCh38]
Chr2:50280499 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.665AGGGCG[3] (p.222EG[3]) microsatellite Pitt-Hopkins-like syndrome 2 [RCV002044431] Chr2:51027597..51027598 [GRCh38]
Chr2:51254735..51254736 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3229G>A (p.Glu1077Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001893740] Chr2:50472313 [GRCh38]
Chr2:50699451 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4146del (p.Val1383fs) deletion NRXN1-related disorder [RCV001825244] Chr2:49943774 [GRCh38]
Chr2:50170912 [GRCh37]
Chr2:2p16.3		 not provided
NM_001330078.2(NRXN1):c.3875_3889del (p.Pro1292_Gln1296del) deletion Pitt-Hopkins-like syndrome 2 [RCV001912425] Chr2:50053510..50053524 [GRCh38]
Chr2:50280648..50280662 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3560T>C (p.Ile1187Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001985055] Chr2:50091481 [GRCh38]
Chr2:50318619 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.370C>G (p.Arg124Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001317170] Chr2:51027904 [GRCh38]
Chr2:51255042 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1941G>C (p.Leu647Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001363986] Chr2:50538455 [GRCh38]
Chr2:50765593 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.919G>A (p.Glu307Lys) single nucleotide variant Inborn genetic diseases [RCV002538449]|Pitt-Hopkins-like syndrome 2 [RCV001295311] Chr2:50623529 [GRCh38]
Chr2:50850667 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2049C>A (p.Asn683Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001366575] Chr2:50538347 [GRCh38]
Chr2:50765485 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.296A>C (p.Glu99Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001366586] Chr2:51027978 [GRCh38]
Chr2:51255116 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2328G>A (p.Val776=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001395589] Chr2:50531246 [GRCh38]
Chr2:50758384 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1264A>G (p.Thr422Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001365331] Chr2:50620078 [GRCh38]
Chr2:50847216 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2568G>A (p.Arg856=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001474987] Chr2:50497644 [GRCh38]
Chr2:50724782 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1020C>G (p.Val340=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001468571] Chr2:50623428 [GRCh38]
Chr2:50850566 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.318C>T (p.Asp106=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001451038] Chr2:51027956 [GRCh38]
Chr2:51255094 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.975G>A (p.Gly325=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001402797] Chr2:50623473 [GRCh38]
Chr2:50850611 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.852C>T (p.Ala284=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001469142] Chr2:50623596 [GRCh38]
Chr2:50850734 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1509C>T (p.Ser503=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001484433] Chr2:50552837 [GRCh38]
Chr2:50779975 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4275G>A (p.Arg1425=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001438621]|not provided [RCV003405666] Chr2:49922193 [GRCh38]
Chr2:50149331 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2497+7A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001397898] Chr2:50506488 [GRCh38]
Chr2:50733626 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2097C>G (p.Val699=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001431628] Chr2:50538299 [GRCh38]
Chr2:50765437 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3978G>T (p.Leu1326=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001442428] Chr2:50053421 [GRCh38]
Chr2:50280559 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.753C>T (p.Arg251=) single nucleotide variant Inborn genetic diseases [RCV002395930]|Pitt-Hopkins-like syndrome 2 [RCV001411407] Chr2:51027521 [GRCh38]
Chr2:51254659 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1671G>A (p.Gly557=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001416520] Chr2:50552675 [GRCh38]
Chr2:50779813 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2497+8C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001493955] Chr2:50506487 [GRCh38]
Chr2:50733625 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3809-245C>T single nucleotide variant not provided [RCV001617454] Chr2:50053835 [GRCh38]
Chr2:50280973 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.525G>A (p.Arg175=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001500437]|not provided [RCV001615172] Chr2:51027749 [GRCh38]
Chr2:51254887 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.981G>A (p.Ser327=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001483688] Chr2:50623467 [GRCh38]
Chr2:50850605 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.204C>T (p.Leu68=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001460127] Chr2:51028070 [GRCh38]
Chr2:51255208 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.36T>C (p.Phe12=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002073188]|not provided [RCV001685605] Chr2:51028238 [GRCh38]
Chr2:51255376 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.472C>T (p.Leu158=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001442392] Chr2:51027802 [GRCh38]
Chr2:51254940 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1653C>T (p.Tyr551=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001453091] Chr2:50552693 [GRCh38]
Chr2:50779831 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3071-8T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001504720] Chr2:50472479 [GRCh38]
Chr2:50699617 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4323C>T (p.Ala1441=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001470963] Chr2:49922145 [GRCh38]
Chr2:50149283 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1002C>G (p.Ala334=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001465160] Chr2:50623446 [GRCh38]
Chr2:50850584 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2642A>C (p.Asp881Ala) single nucleotide variant not provided [RCV001755614] Chr2:50497570 [GRCh38]
Chr2:50724708 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2234G>A (p.Arg745Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619750]|not provided [RCV001755327] Chr2:50531340 [GRCh38]
Chr2:50758478 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2613C>A (p.Ser871Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002300584]|not provided [RCV001755424] Chr2:50497599 [GRCh38]
Chr2:50724737 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51118080-51348997)x1 copy number loss not provided [RCV001834274] Chr2:51118080..51348997 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2233C>T (p.Arg745Trp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001868671]|not provided [RCV001755486] Chr2:50531341 [GRCh38]
Chr2:50758479 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.316G>C (p.Asp106His) single nucleotide variant not provided [RCV001755408] Chr2:51027958 [GRCh38]
Chr2:51255096 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109928G>C single nucleotide variant not provided [RCV002248275] Chr2:50346898 [GRCh38]
Chr2:50574036 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3716C>A (p.Ala1239Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002300587]|not provided [RCV001776479] Chr2:50091325 [GRCh38]
Chr2:50318463 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109932_3365-109927dup duplication Inborn genetic diseases [RCV002334700]|not provided [RCV001799984] Chr2:50346896..50346897 [GRCh38]
Chr2:50574034..50574035 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4076C>G (p.Ala1359Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002540661]|not provided [RCV001759226] Chr2:50053323 [GRCh38]
Chr2:50280461 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.99T>G (p.Phe33Leu) single nucleotide variant not provided [RCV001776860] Chr2:51028175 [GRCh38]
Chr2:51255313 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1320+4A>C single nucleotide variant not provided [RCV001768219] Chr2:50620018 [GRCh38]
Chr2:50847156 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4174G>C (p.Asp1392His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002008915] Chr2:49943746 [GRCh38]
Chr2:50170884 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.160A>T (p.Met54Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002007933] Chr2:51028114 [GRCh38]
Chr2:51255252 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2633C>T (p.Ala878Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001908942] Chr2:50497579 [GRCh38]
Chr2:50724717 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.768C>G (p.Ser256Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001949770] Chr2:51027506 [GRCh38]
Chr2:51254644 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2302C>T (p.Arg768Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001872720] Chr2:50531272 [GRCh38]
Chr2:50758410 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50871418-51603924)x1 copy number loss not provided [RCV001836581] Chr2:50871418..51603924 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.682_683delinsGA (p.Cys228Asp) indel Pitt-Hopkins-like syndrome 2 [RCV001983764] Chr2:51027591..51027592 [GRCh38]
Chr2:51254729..51254730 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.814G>C (p.Asp272His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002002909] Chr2:50922664 [GRCh38]
Chr2:51149802 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51193858-51433041)x1 copy number loss not provided [RCV001829173] Chr2:51193858..51433041 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51225621-51304763) copy number loss not specified [RCV002052715] Chr2:51225621..51304763 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.1103A>G (p.His368Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001968539] Chr2:50623345 [GRCh38]
Chr2:50850483 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3952A>T (p.Ile1318Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002023595] Chr2:50053447 [GRCh38]
Chr2:50280585 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3035A>C (p.Gln1012Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002004829] Chr2:50495940 [GRCh38]
Chr2:50723078 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.336C>T (p.Gly112=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001986993] Chr2:51027938 [GRCh38]
Chr2:51255076 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
GRCh37/hg19 2p16.3(chr2:50813343-50948464) copy number loss not specified [RCV002052593] Chr2:50813343..50948464 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2374+18A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002043316] Chr2:50528607 [GRCh38]
Chr2:50755745 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3758G>A (p.Arg1253Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001948636] Chr2:50055005 [GRCh38]
Chr2:50282143 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1209A>T (p.Glu403Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001986103] Chr2:50620133 [GRCh38]
Chr2:50847271 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2392C>G (p.Leu798Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002043591] Chr2:50506600 [GRCh38]
Chr2:50733738 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1267G>T (p.Ala423Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002022030] Chr2:50620075 [GRCh38]
Chr2:50847213 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4129-3C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002023228] Chr2:49943794 [GRCh38]
Chr2:50170932 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3219C>A (p.Asn1073Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001891140] Chr2:50472323 [GRCh38]
Chr2:50699461 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51181652-51343169) copy number gain not specified [RCV002052704] Chr2:51181652..51343169 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4292C>T (p.Thr1431Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001893396] Chr2:49922176 [GRCh38]
Chr2:50149314 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50899934-51556145) copy number loss not specified [RCV002052615] Chr2:50899934..51556145 [GRCh37]
Chr2:2p16.3		 pathogenic
NC_000002.11:g.(?_50463907)_(50464128_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001942312] Chr2:50463907..50464128 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.4405C>T (p.Arg1469Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001963406] Chr2:49922063 [GRCh38]
Chr2:50149201 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3682G>A (p.Val1228Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001982566] Chr2:50091359 [GRCh38]
Chr2:50318497 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.259G>C (p.Gly87Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001993959] Chr2:51028015 [GRCh38]
Chr2:51255153 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2421C>G (p.Asn807Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001884089] Chr2:50506571 [GRCh38]
Chr2:50733709 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3104C>T (p.Thr1035Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001942795] Chr2:50472438 [GRCh38]
Chr2:50699576 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3937G>A (p.Glu1313Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001886606] Chr2:50053462 [GRCh38]
Chr2:50280600 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3731A>G (p.Asn1244Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001937829] Chr2:50055032 [GRCh38]
Chr2:50282170 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4282A>G (p.Ser1428Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001935645] Chr2:49922186 [GRCh38]
Chr2:50149324 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1858G>A (p.Glu620Lys) single nucleotide variant Inborn genetic diseases [RCV003348712]|Pitt-Hopkins-like syndrome 2 [RCV002000531] Chr2:50538538 [GRCh38]
Chr2:50765676 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3640G>A (p.Val1214Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001981246] Chr2:50091401 [GRCh38]
Chr2:50318539 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1367C>G (p.Ala456Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001934317] Chr2:50552979 [GRCh38]
Chr2:50780117 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2281dup (p.Arg761fs) duplication Pitt-Hopkins-like syndrome 2 [RCV002000012] Chr2:50531292..50531293 [GRCh38]
Chr2:50758430..50758431 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2774C>T (p.Thr925Ile) single nucleotide variant Inborn genetic diseases [RCV002441027]|Pitt-Hopkins-like syndrome 2 [RCV001943375] Chr2:50497438 [GRCh38]
Chr2:50724576 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.254G>A (p.Arg85His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001943438] Chr2:51028020 [GRCh38]
Chr2:51255158 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1471A>G (p.Ile491Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001943450] Chr2:50552875 [GRCh38]
Chr2:50780013 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50750595)_(50765696_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV002011235] Chr2:50750595..50765696 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.3541C>T (p.His1181Tyr) single nucleotide variant Inborn genetic diseases [RCV003247169]|Pitt-Hopkins-like syndrome 2 [RCV001943532] Chr2:50236794 [GRCh38]
Chr2:50463932 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1035A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001898830] Chr2:51026467 [GRCh38]
Chr2:51253605 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.878G>A (p.Cys293Tyr) single nucleotide variant Inborn genetic diseases [RCV004046163]|Pitt-Hopkins-like syndrome 2 [RCV001999617] Chr2:50623570 [GRCh38]
Chr2:50850708 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.307C>T (p.Leu103Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001962274] Chr2:51027967 [GRCh38]
Chr2:51255105 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2009C>T (p.Pro670Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002030648] Chr2:50538387 [GRCh38]
Chr2:50765525 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.601G>A (p.Glu201Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001993536] Chr2:51027673 [GRCh38]
Chr2:51254811 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_51148987)_(51149038_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001877412] Chr2:51148987..51149038 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.365A>G (p.Gln122Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002049387] Chr2:51027909 [GRCh38]
Chr2:51255047 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1320G>A (p.Glu440=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001920448] Chr2:50620022 [GRCh38]
Chr2:50847160 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2299C>T (p.Leu767Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001934179] Chr2:50531275 [GRCh38]
Chr2:50758413 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3389A>G (p.Lys1130Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002013372] Chr2:50236946 [GRCh38]
Chr2:50464084 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2146G>A (p.Ala716Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001867720] Chr2:50531428 [GRCh38]
Chr2:50758566 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_51253489)_(51255411_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001994643] Chr2:51253489..51255411 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.4411T>G (p.Tyr1471Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002016512] Chr2:49922057 [GRCh38]
Chr2:50149195 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1033A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001978285] Chr2:51026469 [GRCh38]
Chr2:51253607 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1078G>A (p.Gly360Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002033146]|not provided [RCV004783992] Chr2:50623370 [GRCh38]
Chr2:50850508 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2845G>A (p.Gly949Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001866694] Chr2:50497367 [GRCh38]
Chr2:50724505 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1129_772+1132del deletion Pitt-Hopkins-like syndrome 2 [RCV001917578] Chr2:51026370..51026373 [GRCh38]
Chr2:51253508..51253511 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.251C>G (p.Thr84Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001989468] Chr2:51028023 [GRCh38]
Chr2:51255161 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.424T>G (p.Ser142Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002011354]|not provided [RCV005412361] Chr2:51027850 [GRCh38]
Chr2:51254988 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1044G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001977823] Chr2:51026458 [GRCh38]
Chr2:51253596 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.884A>G (p.Asp295Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001916361] Chr2:50623564 [GRCh38]
Chr2:50850702 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3908A>G (p.Asn1303Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001900357] Chr2:50053491 [GRCh38]
Chr2:50280629 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2837G>A (p.Ser946Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002027003] Chr2:50497375 [GRCh38]
Chr2:50724513 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2509G>C (p.Gly837Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001877558]|Pitt-Hopkins-like syndrome 2 [RCV002478200] Chr2:50497703 [GRCh38]
Chr2:50724841 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1763C>T (p.Thr588Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001881316] Chr2:50538633 [GRCh38]
Chr2:50765771 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3500G>A (p.Arg1167Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001916630] Chr2:50236835 [GRCh38]
Chr2:50463973 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3862G>C (p.Glu1288Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001939807] Chr2:50053537 [GRCh38]
Chr2:50280675 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.266T>C (p.Leu89Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002036800] Chr2:51028008 [GRCh38]
Chr2:51255146 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3193C>G (p.Leu1065Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001879094] Chr2:50472349 [GRCh38]
Chr2:50699487 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4336C>A (p.Leu1446Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001992815] Chr2:49922132 [GRCh38]
Chr2:50149270 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4067C>T (p.Thr1356Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001925908] Chr2:50053332 [GRCh38]
Chr2:50280470 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.512T>A (p.Leu171Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001952285] Chr2:51027762 [GRCh38]
Chr2:51254900 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1586A>G (p.Asp529Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001938697] Chr2:50552760 [GRCh38]
Chr2:50779898 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.160A>C (p.Met54Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002051294] Chr2:51028114 [GRCh38]
Chr2:51255252 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1175A>G (p.Asp392Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001924778] Chr2:50620167 [GRCh38]
Chr2:50847305 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3737G>A (p.Arg1246His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002036408] Chr2:50055026 [GRCh38]
Chr2:50282164 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4015A>G (p.Thr1339Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002030171] Chr2:50053384 [GRCh38]
Chr2:50280522 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.601G>T (p.Glu201Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002035281] Chr2:51027673 [GRCh38]
Chr2:51254811 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.3300A>G (p.Gln1100=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001961241] Chr2:50465506 [GRCh38]
Chr2:50692644 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.277T>G (p.Phe93Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001933215] Chr2:51027997 [GRCh38]
Chr2:51255135 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1321-3C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001883575] Chr2:50553028 [GRCh38]
Chr2:50780166 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1510A>G (p.Ile504Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001926057] Chr2:50552836 [GRCh38]
Chr2:50779974 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.237G>A (p.Leu79=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001875555] Chr2:51028037 [GRCh38]
Chr2:51255175 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.4480T>C (p.Ser1494Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001917482] Chr2:49921988 [GRCh38]
Chr2:50149126 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.724G>A (p.Val242Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001952758] Chr2:51027550 [GRCh38]
Chr2:51254688 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4130C>G (p.Thr1377Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002014052] Chr2:49943790 [GRCh38]
Chr2:50170928 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.25G>A (p.Gly9Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001904474] Chr2:51028249 [GRCh38]
Chr2:51255387 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.526G>A (p.Glu176Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001976484] Chr2:51027748 [GRCh38]
Chr2:51254886 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50723023)_(50850773_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001916341] Chr2:50723023..50850773 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2585C>T (p.Pro862Leu) single nucleotide variant Inborn genetic diseases [RCV002425101]|Pitt-Hopkins-like syndrome 2 [RCV002035018] Chr2:50497627 [GRCh38]
Chr2:50724765 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_51148987)_(51255411_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001884270] Chr2:51148987..51255411 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.854C>T (p.Thr285Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001924356] Chr2:50623594 [GRCh38]
Chr2:50850732 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3927T>G (p.Asn1309Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001925185] Chr2:50053472 [GRCh38]
Chr2:50280610 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3846AAT[1] (p.Ile1284del) microsatellite Pitt-Hopkins-like syndrome 2 [RCV001998507] Chr2:50053548..50053550 [GRCh38]
Chr2:50280686..50280688 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2049C>G (p.Asn683Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001905961] Chr2:50538347 [GRCh38]
Chr2:50765485 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.332A>G (p.Asp111Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001981310] Chr2:51027942 [GRCh38]
Chr2:51255080 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2873T>C (p.Val958Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002027072] Chr2:50497339 [GRCh38]
Chr2:50724477 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4337T>C (p.Leu1446Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001867829] Chr2:49922131 [GRCh38]
Chr2:50149269 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1704G>C (p.Lys568Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002048689] Chr2:50552642 [GRCh38]
Chr2:50779780 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_51253489)_(51253627_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV002016689] Chr2:51253489..51253627 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1113G>A single nucleotide variant Inborn genetic diseases [RCV002560442]|Pitt-Hopkins-like syndrome 2 [RCV001954851] Chr2:51026389 [GRCh38]
Chr2:51253527 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1678A>G (p.Thr560Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001930413] Chr2:50552668 [GRCh38]
Chr2:50779806 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50318441)_(50464128_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001877415] Chr2:50318441..50464128 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3028A>G (p.Thr1010Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001955779] Chr2:50495947 [GRCh38]
Chr2:50723085 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50149082)_(50464128_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV002016695] Chr2:50149082..50464128 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.808A>T (p.Met270Leu) single nucleotide variant Inborn genetic diseases [RCV004955795]|Pitt-Hopkins-like syndrome 2 [RCV001935364] Chr2:50922670 [GRCh38]
Chr2:51149808 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.589G>A (p.Val197Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001879453] Chr2:51027685 [GRCh38]
Chr2:51254823 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_49381385)_(50318652_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001900416] Chr2:49381385..50318652 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2498-17A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002085275] Chr2:50497731 [GRCh38]
Chr2:50724869 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1920C>T (p.Tyr640=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002205619] Chr2:50538476 [GRCh38]
Chr2:50765614 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.567C>T (p.Val189=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002188708] Chr2:51027707 [GRCh38]
Chr2:51254845 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1321-12C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002105163] Chr2:50553037 [GRCh38]
Chr2:50780175 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.681G>A (p.Val227=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002126694] Chr2:51027593 [GRCh38]
Chr2:51254731 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2706C>T (p.Ile902=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002186497] Chr2:50497506 [GRCh38]
Chr2:50724644 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+15C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002186350] Chr2:51027487 [GRCh38]
Chr2:51254625 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.714C>T (p.Asp238=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002092464] Chr2:51027560 [GRCh38]
Chr2:51254698 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3228C>T (p.Ile1076=) single nucleotide variant NRXN1-related disorder [RCV004543898]|Pitt-Hopkins-like syndrome 2 [RCV002148998] Chr2:50472314 [GRCh38]
Chr2:50699452 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1110G>A (p.Val370=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002189999] Chr2:50623338 [GRCh38]
Chr2:50850476 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3364+14T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002106562] Chr2:50465428 [GRCh38]
Chr2:50692566 [GRCh37]
Chr2:2p16.3		 likely benign
GRCh37/hg19 2p16.3(chr2:50671549-50860852)x1 copy number loss del2p16.3 [RCV002226631] Chr2:50671549..50860852 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2670C>T (p.Tyr890=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002074657] Chr2:50497542 [GRCh38]
Chr2:50724680 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2862G>T (p.Val954=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002147944] Chr2:50497350 [GRCh38]
Chr2:50724488 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2166T>C (p.Asp722=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002144806] Chr2:50531408 [GRCh38]
Chr2:50758546 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.820+16C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002073618] Chr2:50922642 [GRCh38]
Chr2:51149780 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2853C>T (p.Asp951=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002206711] Chr2:50497359 [GRCh38]
Chr2:50724497 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.639G>A (p.Gly213=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002071702] Chr2:51027635 [GRCh38]
Chr2:51254773 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3042C>G (p.Thr1014=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002086526] Chr2:50495933 [GRCh38]
Chr2:50723071 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3252C>T (p.Ser1084=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002148993] Chr2:50465554 [GRCh38]
Chr2:50692692 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3546+19A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002209012] Chr2:50236770 [GRCh38]
Chr2:50463908 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2497+17C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002107907] Chr2:50506478 [GRCh38]
Chr2:50733616 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3429C>T (p.Asp1143=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002110635] Chr2:50236906 [GRCh38]
Chr2:50464044 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2879+11G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002164886] Chr2:50497322 [GRCh38]
Chr2:50724460 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1028T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002205455] Chr2:51026474 [GRCh38]
Chr2:51253612 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.90G>A (p.Gly30=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002091690] Chr2:51028184 [GRCh38]
Chr2:51255322 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1321-4A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002091553] Chr2:50553029 [GRCh38]
Chr2:50780167 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.310C>T (p.Leu104=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002105967] Chr2:51027964 [GRCh38]
Chr2:51255102 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1144T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002124546] Chr2:51026358 [GRCh38]
Chr2:51253496 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1203G>T (p.Thr401=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002090965] Chr2:50620139 [GRCh38]
Chr2:50847277 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3070+13T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002115625] Chr2:50495892 [GRCh38]
Chr2:50723030 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3645T>G (p.Val1215=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002146336] Chr2:50091396 [GRCh38]
Chr2:50318534 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1134+20G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002128213] Chr2:50623294 [GRCh38]
Chr2:50850432 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3071-4G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002148598] Chr2:50472475 [GRCh38]
Chr2:50699613 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.456C>A (p.Gly152=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002152130] Chr2:51027818 [GRCh38]
Chr2:51254956 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.570C>T (p.Asn190=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002216047] Chr2:51027704 [GRCh38]
Chr2:51254842 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1094A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002153591] Chr2:51026408 [GRCh38]
Chr2:51253546 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.821-13A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002076747] Chr2:50921893 [GRCh38]
Chr2:51149031 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2144-8A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002110192] Chr2:50531438 [GRCh38]
Chr2:50758576 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2895G>C (p.Val965=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002174890] Chr2:50496080 [GRCh38]
Chr2:50723218 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4217-4A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002090584] Chr2:49922255 [GRCh38]
Chr2:50149393 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1284A>G (p.Ser428=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002128750] Chr2:50620058 [GRCh38]
Chr2:50847196 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3018C>T (p.Asp1006=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002080687] Chr2:50495957 [GRCh38]
Chr2:50723095 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4216+17del deletion Pitt-Hopkins-like syndrome 2 [RCV002150039] Chr2:49943687 [GRCh38]
Chr2:50170825 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.772+13G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002193086] Chr2:51027489 [GRCh38]
Chr2:51254627 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2475G>C (p.Val825=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002190015] Chr2:50506517 [GRCh38]
Chr2:50733655 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.606G>T (p.Val202=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002076797] Chr2:51027668 [GRCh38]
Chr2:51254806 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1929C>T (p.Cys643=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002130807] Chr2:50538467 [GRCh38]
Chr2:50765605 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1778C>A (p.Thr593Lys) single nucleotide variant not provided [RCV002226153] Chr2:50538618 [GRCh38]
Chr2:50765756 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4308G>C (p.Gly1436=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002133651] Chr2:49922160 [GRCh38]
Chr2:50149298 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4212G>A (p.Gly1404=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002073499] Chr2:49943708 [GRCh38]
Chr2:50170846 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.243G>A (p.Leu81=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002124383] Chr2:51028031 [GRCh38]
Chr2:51255169 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2879+16T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002094221] Chr2:50497317 [GRCh38]
Chr2:50724455 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2148A>G (p.Ala716=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002096900] Chr2:50531426 [GRCh38]
Chr2:50758564 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1851G>T (p.Gly617=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002191966] Chr2:50538545 [GRCh38]
Chr2:50765683 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2375-17T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002210301] Chr2:50506634 [GRCh38]
Chr2:50733772 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.790+15C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002150748] Chr2:50925923 [GRCh38]
Chr2:51153061 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4128+17T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002077886] Chr2:50053254 [GRCh38]
Chr2:50280392 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1422G>A (p.Glu474=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002192418] Chr2:50552924 [GRCh38]
Chr2:50780062 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2879+18C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002211911] Chr2:50497315 [GRCh38]
Chr2:50724453 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1022C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002082869] Chr2:51026480 [GRCh38]
Chr2:51253618 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2498-9C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002083129] Chr2:50497723 [GRCh38]
Chr2:50724861 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2375-13G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002220571] Chr2:50506630 [GRCh38]
Chr2:50733768 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1135-14C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002179675] Chr2:50621263 [GRCh38]
Chr2:50848401 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1569G>A (p.Lys523=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002217272] Chr2:50552777 [GRCh38]
Chr2:50779915 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-4C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002155039] Chr2:50236974 [GRCh38]
Chr2:50464112 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2739G>A (p.Ser913=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002200788] Chr2:50497473 [GRCh38]
Chr2:50724611 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3864G>A (p.Glu1288=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002201529] Chr2:50053535 [GRCh38]
Chr2:50280673 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2879+19A>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002199784] Chr2:50497314 [GRCh38]
Chr2:50724452 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2224G>C (p.Val742Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005058171]|not provided [RCV002244582] Chr2:50531350 [GRCh38]
Chr2:50758488 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2655T>C (p.Asn885=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002083512] Chr2:50497557 [GRCh38]
Chr2:50724695 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3364+20_3364+21inv inversion Pitt-Hopkins-like syndrome 2 [RCV002160013] Chr2:50465421..50465422 [GRCh38]
Chr2:50692559..50692560 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+10G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002218871] Chr2:51027492 [GRCh38]
Chr2:51254630 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1320+10G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002120000] Chr2:50620012 [GRCh38]
Chr2:50847150 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.198C>G (p.Leu66=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002163789] Chr2:51028076 [GRCh38]
Chr2:51255214 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1572A>G (p.Pro524=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002198486] Chr2:50552774 [GRCh38]
Chr2:50779912 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.821-18A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002141748] Chr2:50921898 [GRCh38]
Chr2:51149036 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3546+7A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002163857] Chr2:50236782 [GRCh38]
Chr2:50463920 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3393T>C (p.Gly1131=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002082204] Chr2:50236942 [GRCh38]
Chr2:50464080 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2686A>C (p.Arg896=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002204628] Chr2:50497526 [GRCh38]
Chr2:50724664 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1875T>A (p.Leu625=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002183850] Chr2:50538521 [GRCh38]
Chr2:50765659 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2367T>C (p.Cys789=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002183897] Chr2:50528632 [GRCh38]
Chr2:50755770 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3927T>C (p.Asn1309=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002164210] Chr2:50053472 [GRCh38]
Chr2:50280610 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3546+14G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002157247] Chr2:50236775 [GRCh38]
Chr2:50463913 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3547-18dup duplication Pitt-Hopkins-like syndrome 2 [RCV002204474] Chr2:50091511..50091512 [GRCh38]
Chr2:50318649..50318650 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3432A>G (p.Arg1144=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002199687] Chr2:50236903 [GRCh38]
Chr2:50464041 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.773-20T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002219268] Chr2:50925975 [GRCh38]
Chr2:51153113 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.723C>T (p.Ala241=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002221057] Chr2:51027551 [GRCh38]
Chr2:51254689 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.693A>G (p.Gly231=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002217347] Chr2:51027581 [GRCh38]
Chr2:51254719 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.790+7G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002180216] Chr2:50925931 [GRCh38]
Chr2:51153069 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3372G>A (p.Thr1124=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002103118] Chr2:50236963 [GRCh38]
Chr2:50464101 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2892C>T (p.Tyr964=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002103434] Chr2:50496083 [GRCh38]
Chr2:50723221 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2178T>C (p.Phe726=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002175715] Chr2:50531396 [GRCh38]
Chr2:50758534 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.79C>T (p.Leu27=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002183349] Chr2:51028195 [GRCh38]
Chr2:51255333 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3516A>C (p.Ser1172=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002123459] Chr2:50236819 [GRCh38]
Chr2:50463957 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1908C>A (p.Leu636=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002156573] Chr2:50538488 [GRCh38]
Chr2:50765626 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2347+11G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002138388] Chr2:50531216 [GRCh38]
Chr2:50758354 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1017C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002180104] Chr2:51026485 [GRCh38]
Chr2:51253623 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.204C>G (p.Leu68=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002119045] Chr2:51028070 [GRCh38]
Chr2:51255208 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4398C>T (p.Asp1466=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003110365] Chr2:49922070 [GRCh38]
Chr2:50149208 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2880-14C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003110776] Chr2:50496109 [GRCh38]
Chr2:50723247 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2154T>A (p.Val718=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003114820] Chr2:50531420 [GRCh38]
Chr2:50758558 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.602A>G (p.Glu201Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003118169] Chr2:51027672 [GRCh38]
Chr2:51254810 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2347+8_2347+9del deletion Pitt-Hopkins-like syndrome 2 [RCV003114945] Chr2:50531218..50531219 [GRCh38]
Chr2:50758356..50758357 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4265A>C (p.Glu1422Ala) single nucleotide variant not provided [RCV003120239] Chr2:49922203 [GRCh38]
Chr2:50149341 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1131AGTG[2] microsatellite Pitt-Hopkins-like syndrome 2 [RCV003121131]|not provided [RCV003427687] Chr2:51026360..51026363 [GRCh38]
Chr2:51253498..51253501 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3244+3A>T single nucleotide variant not provided [RCV004778116] Chr2:50472295 [GRCh38]
Chr2:50699433 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50779705)_(50850773_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV003105503] Chr2:50779705..50850773 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50765371)_(50850773_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV003105504] Chr2:50765371..50850773 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_48914836)_(50850773_?)dup duplication Pitt-Hopkins-like syndrome 2 [RCV003105507] Chr2:48914836..50850773 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.217G>C (p.Glu73Gln) single nucleotide variant not provided [RCV004787214] Chr2:51028057 [GRCh38]
Chr2:51255195 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1154C>T (p.Ala385Val) single nucleotide variant not provided [RCV002273504] Chr2:50621230 [GRCh38]
Chr2:50848368 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3952A>G (p.Ile1318Val) single nucleotide variant not provided [RCV002260861] Chr2:50053447 [GRCh38]
Chr2:50280585 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1984G>A (p.Val662Ile) single nucleotide variant not provided [RCV002267305] Chr2:50538412 [GRCh38]
Chr2:50765550 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4138G>A (p.Asp1380Asn) single nucleotide variant not provided [RCV002265501] Chr2:49943782 [GRCh38]
Chr2:50170920 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51139921-51400512)x1 copy number loss not provided [RCV002291544] Chr2:51139921..51400512 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.253C>T (p.Arg85Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005096024]|not provided [RCV002281439] Chr2:51028021 [GRCh38]
Chr2:51255159 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51015693-51158769) copy number loss See cases [RCV002292427] Chr2:51015693..51158769 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2444T>A (p.Val815Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001911487] Chr2:50506548 [GRCh38]
Chr2:50733686 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.526G>C (p.Glu176Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001967154] Chr2:51027748 [GRCh38]
Chr2:51254886 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50692560)_(50724872_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001927999] Chr2:50692560..50724872 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3112T>A (p.Ser1038Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002002890] Chr2:50472430 [GRCh38]
Chr2:50699568 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51089735-51113216)x1 copy number loss not provided [RCV001829196] Chr2:51089735..51113216 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2294A>G (p.Asp765Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002037585] Chr2:50531280 [GRCh38]
Chr2:50758418 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1401A>T (p.Gly467=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002000656] Chr2:50552945 [GRCh38]
Chr2:50780083 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.563G>A (p.Arg188Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002026755] Chr2:51027711 [GRCh38]
Chr2:51254849 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4106C>T (p.Pro1369Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002013153] Chr2:50053293 [GRCh38]
Chr2:50280431 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3244+4T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001935308] Chr2:50472294 [GRCh38]
Chr2:50699432 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.238G>A (p.Glu80Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002010691] Chr2:51028036 [GRCh38]
Chr2:51255174 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.8C>A (p.Thr3Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001932146] Chr2:51028266 [GRCh38]
Chr2:51255404 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50280389)_(50318652_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001916339] Chr2:50280389..50318652 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50692560)_(50780183_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV001951572] Chr2:50692560..50780183 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.3702C>G (p.Ile1234Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001879237] Chr2:50091339 [GRCh38]
Chr2:50318477 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2630T>C (p.Met877Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002009694] Chr2:50497582 [GRCh38]
Chr2:50724720 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3743C>T (p.Ala1248Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001915872] Chr2:50055020 [GRCh38]
Chr2:50282158 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4149G>A (p.Val1383=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001901929] Chr2:49943771 [GRCh38]
Chr2:50170909 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.568A>C (p.Asn190His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001979245] Chr2:51027706 [GRCh38]
Chr2:51254844 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.231C>T (p.Asp77=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002112490] Chr2:51028043 [GRCh38]
Chr2:51255181 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2374+12T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002091290] Chr2:50528613 [GRCh38]
Chr2:50755751 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+9C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002088983] Chr2:51027493 [GRCh38]
Chr2:51254631 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2347+20C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002187173] Chr2:50531207 [GRCh38]
Chr2:50758345 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.573C>T (p.Ser191=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002187720] Chr2:51027701 [GRCh38]
Chr2:51254839 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4143C>A (p.Ile1381=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002171368] Chr2:49943777 [GRCh38]
Chr2:50170915 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.790+14A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002129072] Chr2:50925924 [GRCh38]
Chr2:51153062 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+12C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002131143] Chr2:51027490 [GRCh38]
Chr2:51254628 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1590C>T (p.Ala530=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002121029] Chr2:50552756 [GRCh38]
Chr2:50779894 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1759+20A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002121518] Chr2:50552567 [GRCh38]
Chr2:50779705 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.141C>T (p.Asn47=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002082829] Chr2:51028133 [GRCh38]
Chr2:51255271 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.183C>T (p.Arg61=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002220098] Chr2:51028091 [GRCh38]
Chr2:51255229 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2229C>G (p.Ser743=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002102764] Chr2:50531345 [GRCh38]
Chr2:50758483 [GRCh37]
Chr2:2p16.3		 likely benign
NC_000002.12:g.50371182_50397380del deletion NRXN1-related Complex neurodevelopmental disorder [RCV002266700] Chr2:50371182..50397380 [GRCh38]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
GRCh37/hg19 2p16.3(chr2:51051317-51539568)x1 copy number loss not provided [RCV002291532] Chr2:51051317..51539568 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.1215T>C (p.Tyr405=) single nucleotide variant Inborn genetic diseases [RCV002387583]|Pitt-Hopkins-like syndrome 2 [RCV003619789] Chr2:50620127 [GRCh38]
Chr2:50847265 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3652A>T (p.Thr1218Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002297223] Chr2:50091389 [GRCh38]
Chr2:50318527 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.127T>C (p.Phe43Leu) single nucleotide variant Inborn genetic diseases [RCV002385384] Chr2:51028147 [GRCh38]
Chr2:51255285 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3596C>T (p.Ala1199Val) single nucleotide variant Inborn genetic diseases [RCV002349041]|NRXN1-related disorder [RCV004545294] Chr2:50091445 [GRCh38]
Chr2:50318583 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1571C>A (p.Pro524Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003778909]|not provided [RCV003152000] Chr2:50552775 [GRCh38]
Chr2:50779913 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.685C>A (p.Leu229Ile) single nucleotide variant not provided [RCV003128909] Chr2:51027589 [GRCh38]
Chr2:51254727 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4064C>A (p.Thr1355Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005100946]|not provided [RCV003156594] Chr2:50053335 [GRCh38]
Chr2:50280473 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50959193-51027599)x1 copy number loss not provided [RCV002473801] Chr2:50959193..51027599 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51085470-51400479)x1 copy number loss not provided [RCV002474577] Chr2:51085470..51400479 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51014918-51470037)x1 copy number loss not provided [RCV002472526] Chr2:51014918..51470037 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51009232-51492867)x1 copy number loss not provided [RCV002474505] Chr2:51009232..51492867 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50961916-51023090)x1 copy number loss not provided [RCV002473824] Chr2:50961916..51023090 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50765561-51220138)x1 copy number loss not provided [RCV002472601] Chr2:50765561..51220138 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51047025-51135808)x1 copy number loss not provided [RCV002474748] Chr2:51047025..51135808 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.436G>A (p.Asp146Asn) single nucleotide variant Inborn genetic diseases [RCV002333494] Chr2:51027838 [GRCh38]
Chr2:51254976 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1995T>G (p.Thr665=) single nucleotide variant Inborn genetic diseases [RCV002417551]|Pitt-Hopkins-like syndrome 2 [RCV005097951] Chr2:50538401 [GRCh38]
Chr2:50765539 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2672G>A (p.Cys891Tyr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002302986] Chr2:50497540 [GRCh38]
Chr2:50724678 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3364+1G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003131089] Chr2:50465441 [GRCh38]
Chr2:50692579 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.2002G>T (p.Val668Leu) single nucleotide variant Inborn genetic diseases [RCV002417643]|Pitt-Hopkins-like syndrome 2 [RCV005097956] Chr2:50538394 [GRCh38]
Chr2:50765532 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2003T>A (p.Val668Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002299509] Chr2:50538393 [GRCh38]
Chr2:50765531 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1576C>G (p.His526Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002304273] Chr2:50552770 [GRCh38]
Chr2:50779908 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.745G>A (p.Gly249Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002304853] Chr2:51027529 [GRCh38]
Chr2:51254667 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.82G>T (p.Gly28Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002294782] Chr2:51028192 [GRCh38]
Chr2:51255330 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1528A>G (p.Thr510Ala) single nucleotide variant Inborn genetic diseases [RCV002395003] Chr2:50552818 [GRCh38]
Chr2:50779956 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.705C>G (p.Ser235=) single nucleotide variant Inborn genetic diseases [RCV002365012]|Pitt-Hopkins-like syndrome 2 [RCV003098456] Chr2:51027569 [GRCh38]
Chr2:51254707 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4183A>T (p.Ile1395Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002300405] Chr2:49943737 [GRCh38]
Chr2:50170875 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3497T>C (p.Val1166Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002300513] Chr2:50236838 [GRCh38]
Chr2:50463976 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109963T>C single nucleotide variant Inborn genetic diseases [RCV002407895] Chr2:50346933 [GRCh38]
Chr2:50574071 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2284G>A (p.Asp762Asn) single nucleotide variant Inborn genetic diseases [RCV002459678] Chr2:50531290 [GRCh38]
Chr2:50758428 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2977A>G (p.Ile993Val) single nucleotide variant Inborn genetic diseases [RCV002325861] Chr2:50495998 [GRCh38]
Chr2:50723136 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2329A>C (p.Lys777Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002298993] Chr2:50531245 [GRCh38]
Chr2:50758383 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3357C>T (p.Cys1119=) single nucleotide variant Inborn genetic diseases [RCV002337512] Chr2:50465449 [GRCh38]
Chr2:50692587 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1512A>T (p.Ile504=) single nucleotide variant Inborn genetic diseases [RCV002401313]|Pitt-Hopkins-like syndrome 2 [RCV003509752] Chr2:50552834 [GRCh38]
Chr2:50779972 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2027C>T (p.Thr676Ile) single nucleotide variant Inborn genetic diseases [RCV002430630] Chr2:50538369 [GRCh38]
Chr2:50765507 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109982G>A single nucleotide variant Inborn genetic diseases [RCV002357809] Chr2:50346952 [GRCh38]
Chr2:50574090 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1118G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002295847] Chr2:51026384 [GRCh38]
Chr2:51253522 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109941C>A single nucleotide variant Inborn genetic diseases [RCV002375624] Chr2:50346911 [GRCh38]
Chr2:50574049 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1536G>A (p.Glu512=) single nucleotide variant Inborn genetic diseases [RCV002403739] Chr2:50552810 [GRCh38]
Chr2:50779948 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2698A>G (p.Arg900Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002298422] Chr2:50497514 [GRCh38]
Chr2:50724652 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1362A>G (p.Arg454=) single nucleotide variant Inborn genetic diseases [RCV002397162]|Pitt-Hopkins-like syndrome 2 [RCV003095222] Chr2:50552984 [GRCh38]
Chr2:50780122 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1135-5C>A single nucleotide variant Inborn genetic diseases [RCV002362480] Chr2:50621254 [GRCh38]
Chr2:50848392 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.659G>C (p.Gly220Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002299845] Chr2:51027615 [GRCh38]
Chr2:51254753 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109804T>C single nucleotide variant not provided [RCV002306202] Chr2:50346774 [GRCh38]
Chr2:50573912 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.23G>A (p.Arg8His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002299059] Chr2:51028251 [GRCh38]
Chr2:51255389 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3172T>C (p.Leu1058=) single nucleotide variant Inborn genetic diseases [RCV002326168] Chr2:50472370 [GRCh38]
Chr2:50699508 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1526G>A (p.Arg509His) single nucleotide variant Inborn genetic diseases [RCV002394983] Chr2:50552820 [GRCh38]
Chr2:50779958 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.12G>A (p.Ala4=) single nucleotide variant Inborn genetic diseases [RCV002380807]|Pitt-Hopkins-like syndrome 2 [RCV003094935] Chr2:51028262 [GRCh38]
Chr2:51255400 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.388A>C (p.Ile130Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002303058] Chr2:51027886 [GRCh38]
Chr2:51255024 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109737C>T single nucleotide variant Inborn genetic diseases [RCV002460005] Chr2:50346707 [GRCh38]
Chr2:50573845 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1448C>T (p.Thr483Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002297983] Chr2:50552898 [GRCh38]
Chr2:50780036 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2880-4C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003074114] Chr2:50496099 [GRCh38]
Chr2:50723237 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.908G>A (p.Ser303Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002842066] Chr2:50623540 [GRCh38]
Chr2:50850678 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2374+5G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002861947] Chr2:50528620 [GRCh38]
Chr2:50755758 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2331A>T (p.Lys777Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002815459] Chr2:50531243 [GRCh38]
Chr2:50758381 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1624G>A (p.Ala542Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002815660] Chr2:50552722 [GRCh38]
Chr2:50779860 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4258T>A (p.Ser1420Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002776519] Chr2:49922210 [GRCh38]
Chr2:50149348 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.773-13C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002726593] Chr2:50925968 [GRCh38]
Chr2:51153106 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.10G>A (p.Ala4Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002616047] Chr2:51028264 [GRCh38]
Chr2:51255402 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1860A>T (p.Glu620Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003015048] Chr2:50538536 [GRCh38]
Chr2:50765674 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2008C>A (p.Pro670Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003014491] Chr2:50538388 [GRCh38]
Chr2:50765526 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.17T>A (p.Leu6His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002839436] Chr2:51028257 [GRCh38]
Chr2:51255395 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2157G>C (p.Leu719Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003012080] Chr2:50531417 [GRCh38]
Chr2:50758555 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1776C>T (p.Asn592=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002756595] Chr2:50538620 [GRCh38]
Chr2:50765758 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.865T>A (p.Ser289Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003076236] Chr2:50623583 [GRCh38]
Chr2:50850721 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.219G>T (p.Glu73Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002843707] Chr2:51028055 [GRCh38]
Chr2:51255193 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3597C>T (p.Ala1199=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002754906] Chr2:50091444 [GRCh38]
Chr2:50318582 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2880-20C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003013728] Chr2:50496115 [GRCh38]
Chr2:50723253 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3485A>C (p.Glu1162Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002843750] Chr2:50236850 [GRCh38]
Chr2:50463988 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2880-19del deletion Pitt-Hopkins-like syndrome 2 [RCV002971584] Chr2:50496114 [GRCh38]
Chr2:50723252 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2143+18C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002615077] Chr2:50538235 [GRCh38]
Chr2:50765373 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2348-20A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002863641] Chr2:50528671 [GRCh38]
Chr2:50755809 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2150C>T (p.Thr717Met) single nucleotide variant Inborn genetic diseases [RCV002906450]|Pitt-Hopkins-like syndrome 2 [RCV003509770] Chr2:50531424 [GRCh38]
Chr2:50758562 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.463G>T (p.Val155Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002771619] Chr2:51027811 [GRCh38]
Chr2:51254949 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1339G>C (p.Asp447His) single nucleotide variant Inborn genetic diseases [RCV002727749] Chr2:50553007 [GRCh38]
Chr2:50780145 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.797C>T (p.Ala266Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002750824] Chr2:50922681 [GRCh38]
Chr2:51149819 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.244A>C (p.Ile82Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002970642] Chr2:51028030 [GRCh38]
Chr2:51255168 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2988C>T (p.Asp996=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002843337] Chr2:50495987 [GRCh38]
Chr2:50723125 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3549C>T (p.His1183=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002681843] Chr2:50091492 [GRCh38]
Chr2:50318630 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4176T>A (p.Asp1392Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002995820] Chr2:49943744 [GRCh38]
Chr2:50170882 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1162A>G (p.Thr388Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002755178] Chr2:50620180 [GRCh38]
Chr2:50847318 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2143+17C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002880573] Chr2:50538236 [GRCh38]
Chr2:50765374 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.618T>C (p.Asp206=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002972643] Chr2:51027656 [GRCh38]
Chr2:51254794 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.510_511delinsTT (p.Thr170_Leu171=) indel Pitt-Hopkins-like syndrome 2 [RCV002730841] Chr2:51027763..51027764 [GRCh38]
Chr2:51254901..51254902 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2558C>T (p.Thr853Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003077598] Chr2:50497654 [GRCh38]
Chr2:50724792 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4406G>A (p.Arg1469Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003078383] Chr2:49922062 [GRCh38]
Chr2:50149200 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2417A>G (p.Asp806Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003002633] Chr2:50506575 [GRCh38]
Chr2:50733713 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1773C>G (p.Val591=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002871202] Chr2:50538623 [GRCh38]
Chr2:50765761 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.40C>G (p.Leu14Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002823911] Chr2:51028234 [GRCh38]
Chr2:51255372 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4007C>G (p.Thr1336Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003003200] Chr2:50053392 [GRCh38]
Chr2:50280530 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4261G>A (p.Ala1421Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003039419] Chr2:49922207 [GRCh38]
Chr2:50149345 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2686A>G (p.Arg896Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003036231] Chr2:50497526 [GRCh38]
Chr2:50724664 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4199C>T (p.Pro1400Leu) single nucleotide variant Inborn genetic diseases [RCV004068094]|Pitt-Hopkins-like syndrome 2 [RCV002949210] Chr2:49943721 [GRCh38]
Chr2:50170859 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1158+23T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002866521] Chr2:50621203 [GRCh38]
Chr2:50848341 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.1271_1272insACTTCCAGGGTCACCAA (p.Asp424fs) insertion Pitt-Hopkins-like syndrome 2 [RCV002796160] Chr2:50620070..50620071 [GRCh38]
Chr2:50847208..50847209 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.4231G>T (p.Ala1411Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003018369] Chr2:49922237 [GRCh38]
Chr2:50149375 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1760-19del deletion Pitt-Hopkins-like syndrome 2 [RCV003019987] Chr2:50538655 [GRCh38]
Chr2:50765793 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-109748T>C single nucleotide variant Inborn genetic diseases [RCV002844811] Chr2:50346718 [GRCh38]
Chr2:50573856 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2143+15C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002949033] Chr2:50538238 [GRCh38]
Chr2:50765376 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1825C>G (p.Leu609Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003036441] Chr2:50538571 [GRCh38]
Chr2:50765709 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4478G>A (p.Ser1493Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002910221] Chr2:49921990 [GRCh38]
Chr2:50149128 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2383C>T (p.Pro795Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002659086] Chr2:50506609 [GRCh38]
Chr2:50733747 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3599T>C (p.Ile1200Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003078887] Chr2:50091442 [GRCh38]
Chr2:50318580 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3354C>G (p.Leu1118=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002909275] Chr2:50465452 [GRCh38]
Chr2:50692590 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3493T>C (p.Leu1165=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002659615] Chr2:50236842 [GRCh38]
Chr2:50463980 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3856G>A (p.Gly1286Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003002137] Chr2:50053543 [GRCh38]
Chr2:50280681 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.152A>C (p.Glu51Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002824850] Chr2:51028122 [GRCh38]
Chr2:51255260 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2289T>C (p.Ser763=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002796003] Chr2:50531285 [GRCh38]
Chr2:50758423 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.444G>C (p.Thr148=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002927360] Chr2:51027830 [GRCh38]
Chr2:51254968 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4370A>T (p.Asn1457Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002949488]|not provided [RCV003227080] Chr2:49922098 [GRCh38]
Chr2:50149236 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109918G>A single nucleotide variant Inborn genetic diseases [RCV002782104] Chr2:50346888 [GRCh38]
Chr2:50574026 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.638G>C (p.Gly213Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003036232] Chr2:51027636 [GRCh38]
Chr2:51254774 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1759+20A>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003052900] Chr2:50552567 [GRCh38]
Chr2:50779705 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2304C>T (p.Arg768=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002820849] Chr2:50531270 [GRCh38]
Chr2:50758408 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2473G>A (p.Val825Met) single nucleotide variant Inborn genetic diseases [RCV002758297]|Pitt-Hopkins-like syndrome 2 [RCV003619812] Chr2:50506519 [GRCh38]
Chr2:50733657 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4216+13T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002999570] Chr2:49943691 [GRCh38]
Chr2:50170829 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.615C>A (p.Asp205Glu) single nucleotide variant Inborn genetic diseases [RCV002888060] Chr2:51027659 [GRCh38]
Chr2:51254797 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3074A>G (p.Asp1025Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002820586] Chr2:50472468 [GRCh38]
Chr2:50699606 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3823A>G (p.Ile1275Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002705729] Chr2:50053576 [GRCh38]
Chr2:50280714 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2704A>G (p.Ile902Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002695566] Chr2:50497508 [GRCh38]
Chr2:50724646 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2831A>G (p.Tyr944Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003036191] Chr2:50497381 [GRCh38]
Chr2:50724519 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1314C>T (p.Leu438=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003002802] Chr2:50620028 [GRCh38]
Chr2:50847166 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4128+15T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003019961] Chr2:50053256 [GRCh38]
Chr2:50280394 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1760-18C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003053345] Chr2:50538654 [GRCh38]
Chr2:50765792 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2880-6T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002639596] Chr2:50496101 [GRCh38]
Chr2:50723239 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3881A>G (p.Gln1294Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003019016] Chr2:50053518 [GRCh38]
Chr2:50280656 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.832G>A (p.Gly278Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002796719] Chr2:50921869 [GRCh38]
Chr2:51149007 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3245-5T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002570932] Chr2:50465566 [GRCh38]
Chr2:50692704 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1158+21G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002805648] Chr2:50621205 [GRCh38]
Chr2:50848343 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1128G>C (p.Leu376=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002895051] Chr2:50623320 [GRCh38]
Chr2:50850458 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2916T>C (p.Ala972=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003008206] Chr2:50496059 [GRCh38]
Chr2:50723197 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1320+14C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002957855] Chr2:50620008 [GRCh38]
Chr2:50847146 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.132C>T (p.Pro44=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002627362] Chr2:51028142 [GRCh38]
Chr2:51255280 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2829A>C (p.Leu943=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002932443] Chr2:50497383 [GRCh38]
Chr2:50724521 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3958A>G (p.Ile1320Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002745451] Chr2:50053441 [GRCh38]
Chr2:50280579 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-5T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002876758] Chr2:50236975 [GRCh38]
Chr2:50464113 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2324G>A (p.Arg775His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002741974] Chr2:50531250 [GRCh38]
Chr2:50758388 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3364+17G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002597054] Chr2:50465425 [GRCh38]
Chr2:50692563 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3222A>G (p.Gly1074=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002666863] Chr2:50472320 [GRCh38]
Chr2:50699458 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1312C>T (p.Leu438Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002745632] Chr2:50620030 [GRCh38]
Chr2:50847168 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3192C>A (p.Asp1064Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003042938] Chr2:50472350 [GRCh38]
Chr2:50699488 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.820+17T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002872325] Chr2:50922641 [GRCh38]
Chr2:51149779 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.833-18T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003083297] Chr2:50623633 [GRCh38]
Chr2:50850771 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3622A>G (p.Asn1208Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003005518] Chr2:50091419 [GRCh38]
Chr2:50318557 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1754G>T (p.Arg585Leu) single nucleotide variant Inborn genetic diseases [RCV002893333]|not provided [RCV005402012] Chr2:50552592 [GRCh38]
Chr2:50779730 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.295G>A (p.Glu99Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002593983] Chr2:51027979 [GRCh38]
Chr2:51255117 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1412T>C (p.Phe471Ser) single nucleotide variant Inborn genetic diseases [RCV004960922]|Pitt-Hopkins-like syndrome 2 [RCV003039744] Chr2:50552934 [GRCh38]
Chr2:50780072 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3932C>T (p.Ala1311Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002624917] Chr2:50053467 [GRCh38]
Chr2:50280605 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1800T>G (p.Ala600=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002894761] Chr2:50538596 [GRCh38]
Chr2:50765734 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2143+20G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002876550] Chr2:50538233 [GRCh38]
Chr2:50765371 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-109973C>G single nucleotide variant not provided [RCV002508626] Chr2:50346943 [GRCh38]
Chr2:50574081 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.378C>G (p.Thr126=) single nucleotide variant NRXN1-related disorder [RCV004545393]|Pitt-Hopkins-like syndrome 2 [RCV002805559] Chr2:51027896 [GRCh38]
Chr2:51255034 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4518T>C (p.Tyr1506=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002765402] Chr2:49921950 [GRCh38]
Chr2:50149088 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.405C>A (p.Ala135=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002741674]|not provided [RCV004546743] Chr2:51027869 [GRCh38]
Chr2:51255007 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4303G>A (p.Val1435Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003083925] Chr2:49922165 [GRCh38]
Chr2:50149303 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3364+20T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003039885] Chr2:50465422 [GRCh38]
Chr2:50692560 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2589C>G (p.Ser863=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002852780]|not provided [RCV005242279] Chr2:50497623 [GRCh38]
Chr2:50724761 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2880-18_2880-17del microsatellite Pitt-Hopkins-like syndrome 2 [RCV002893922] Chr2:50496112..50496113 [GRCh38]
Chr2:50723250..50723251 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.49T>G (p.Ser17Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002802028] Chr2:51028225 [GRCh38]
Chr2:51255363 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3833G>A (p.Ser1278Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002825667] Chr2:50053566 [GRCh38]
Chr2:50280704 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.199G>C (p.Val67Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002700996] Chr2:51028075 [GRCh38]
Chr2:51255213 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.712G>A (p.Asp238Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002711645] Chr2:51027562 [GRCh38]
Chr2:51254700 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.678G>C (p.Gly226=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002932264] Chr2:51027596 [GRCh38]
Chr2:51254734 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1320+4A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003022763] Chr2:50620018 [GRCh38]
Chr2:50847156 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2144-12T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002914606] Chr2:50531442 [GRCh38]
Chr2:50758580 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.441G>A (p.Met147Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003040310] Chr2:51027833 [GRCh38]
Chr2:51254971 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2240G>A (p.Arg747Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003031512] Chr2:50531334 [GRCh38]
Chr2:50758472 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4063A>G (p.Thr1355Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002791776] Chr2:50053336 [GRCh38]
Chr2:50280474 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1620C>A (p.Phe540Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003086198] Chr2:50552726 [GRCh38]
Chr2:50779864 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2273C>G (p.Thr758Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002602611] Chr2:50531301 [GRCh38]
Chr2:50758439 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1087A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002632806] Chr2:51026415 [GRCh38]
Chr2:51253553 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2197G>A (p.Val733Ile) single nucleotide variant NRXN1-related disorder [RCV004529221]|Pitt-Hopkins-like syndrome 2 [RCV002647646] Chr2:50531377 [GRCh38]
Chr2:50758515 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1371G>A (p.Lys457=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003048115] Chr2:50552975 [GRCh38]
Chr2:50780113 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3557A>G (p.Lys1186Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003031336] Chr2:50091484 [GRCh38]
Chr2:50318622 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.890C>T (p.Ser297Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002967309] Chr2:50623558 [GRCh38]
Chr2:50850696 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.821-5C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002834629] Chr2:50921885 [GRCh38]
Chr2:51149023 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2681A>G (p.Asn894Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002602753] Chr2:50497531 [GRCh38]
Chr2:50724669 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2235G>A (p.Arg745=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002966846] Chr2:50531339 [GRCh38]
Chr2:50758477 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1425T>C (p.Asn475=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002937151] Chr2:50552921 [GRCh38]
Chr2:50780059 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.559G>T (p.Val187Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002632258] Chr2:51027715 [GRCh38]
Chr2:51254853 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1821G>T (p.Leu607=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002898926] Chr2:50538575 [GRCh38]
Chr2:50765713 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.651C>T (p.Cys217=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002598141] Chr2:51027623 [GRCh38]
Chr2:51254761 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4241G>C (p.Arg1414Thr) single nucleotide variant Inborn genetic diseases [RCV002809415] Chr2:49922227 [GRCh38]
Chr2:50149365 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4362G>A (p.Lys1454=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003027856] Chr2:49922106 [GRCh38]
Chr2:50149244 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3718+20T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003027857] Chr2:50091303 [GRCh38]
Chr2:50318441 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3936C>G (p.Ala1312=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003060335] Chr2:50053463 [GRCh38]
Chr2:50280601 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.589G>T (p.Val197Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002877566] Chr2:51027685 [GRCh38]
Chr2:51254823 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.781A>T (p.Asn261Tyr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003045354] Chr2:50925947 [GRCh38]
Chr2:51153085 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4188C>T (p.Asp1396=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002726592] Chr2:49943732 [GRCh38]
Chr2:50170870 [GRCh37]
Chr2:2p16.3		 likely benign
GRCh37/hg19 2p16.3(chr2:50868551-51521625)x1 copy number loss not provided [RCV002472597] Chr2:50868551..51521625 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50885714-51190225)x3 copy number gain not provided [RCV002474733] Chr2:50885714..51190225 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:50838595-51078612)x1 copy number loss not provided [RCV002472624] Chr2:50838595..51078612 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51047025-51209824)x1 copy number loss not provided [RCV002474534] Chr2:51047025..51209824 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51183119-51354468)x1 copy number loss not provided [RCV002474551] Chr2:51183119..51354468 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51089736-51113216)x1 copy number loss not provided [RCV002473775] Chr2:51089736..51113216 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2635T>C (p.Tyr879His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002466919] Chr2:50497577 [GRCh38]
Chr2:50724715 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.134A>G (p.Lys45Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002301600] Chr2:51028140 [GRCh38]
Chr2:51255278 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4416C>A (p.Ile1472=) single nucleotide variant Inborn genetic diseases [RCV002340068] Chr2:49922052 [GRCh38]
Chr2:50149190 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.*18G>A single nucleotide variant not specified [RCV002302483] Chr2:49921926 [GRCh38]
Chr2:50149064 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1364T>A (p.Leu455His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003013649] Chr2:50552982 [GRCh38]
Chr2:50780120 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3623A>G (p.Asn1208Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003033118] Chr2:50091418 [GRCh38]
Chr2:50318556 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.921A>G (p.Glu307=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002881432] Chr2:50623527 [GRCh38]
Chr2:50850665 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2497+19T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002995707] Chr2:50506476 [GRCh38]
Chr2:50733614 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1158+1G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003017108] Chr2:50621225 [GRCh38]
Chr2:50848363 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3283C>A (p.Gln1095Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003014944]|not provided [RCV004719284] Chr2:50465523 [GRCh38]
Chr2:50692661 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3245-3C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002995784] Chr2:50465564 [GRCh38]
Chr2:50692702 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2816A>G (p.Asp939Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003016536] Chr2:50497396 [GRCh38]
Chr2:50724534 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2171G>A (p.Ser724Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002639603] Chr2:50531403 [GRCh38]
Chr2:50758541 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1426G>A (p.Val476Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003002330] Chr2:50552920 [GRCh38]
Chr2:50780058 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3838G>T (p.Ala1280Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003078106] Chr2:50053561 [GRCh38]
Chr2:50280699 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3942C>T (p.Asn1314=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002885663] Chr2:50053457 [GRCh38]
Chr2:50280595 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4217-10T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003019473] Chr2:49922261 [GRCh38]
Chr2:50149399 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.823A>G (p.Lys275Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002795254] Chr2:50921878 [GRCh38]
Chr2:51149016 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1269C>A (p.Ala423=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002885664] Chr2:50620073 [GRCh38]
Chr2:50847211 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1080A>G (p.Gly360=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002885666] Chr2:50623368 [GRCh38]
Chr2:50850506 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3547-14C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002760632] Chr2:50091508 [GRCh38]
Chr2:50318646 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2538C>G (p.Asn846Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002923516] Chr2:50497674 [GRCh38]
Chr2:50724812 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4295G>A (p.Gly1432Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002912493] Chr2:49922173 [GRCh38]
Chr2:50149311 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3919G>T (p.Val1307Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003002792] Chr2:50053480 [GRCh38]
Chr2:50280618 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2445T>A (p.Val815=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002639928] Chr2:50506547 [GRCh38]
Chr2:50733685 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1150C>T (p.His384Tyr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003078824] Chr2:50621234 [GRCh38]
Chr2:50848372 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2589C>T (p.Ser863=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002979852] Chr2:50497623 [GRCh38]
Chr2:50724761 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2292T>C (p.Ala764=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002691011] Chr2:50531282 [GRCh38]
Chr2:50758420 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.773-11T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002637664] Chr2:50925966 [GRCh38]
Chr2:51153104 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.431G>T (p.Arg144Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003054447] Chr2:51027843 [GRCh38]
Chr2:51254981 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.313G>A (p.Ala105Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002658819] Chr2:51027961 [GRCh38]
Chr2:51255099 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.636C>T (p.Gly212=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002621367] Chr2:51027638 [GRCh38]
Chr2:51254776 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1640A>C (p.Asp547Ala) single nucleotide variant Inborn genetic diseases [RCV002950638]|Pitt-Hopkins-like syndrome 2 [RCV003619816] Chr2:50552706 [GRCh38]
Chr2:50779844 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.562A>G (p.Arg188Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002843983] Chr2:51027712 [GRCh38]
Chr2:51254850 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3546+16A>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002658574] Chr2:50236773 [GRCh38]
Chr2:50463911 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2719G>A (p.Val907Ile) single nucleotide variant Inborn genetic diseases [RCV002823471]|Pitt-Hopkins-like syndrome 2 [RCV003509768] Chr2:50497493 [GRCh38]
Chr2:50724631 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.337G>T (p.Ala113Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003080053] Chr2:51027937 [GRCh38]
Chr2:51255075 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2346A>G (p.Leu782=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002765501] Chr2:50531228 [GRCh38]
Chr2:50758366 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4274G>T (p.Arg1425Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002982649] Chr2:49922194 [GRCh38]
Chr2:50149332 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1344G>A (p.Val448=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002710301] Chr2:50553002 [GRCh38]
Chr2:50780140 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3911G>A (p.Gly1304Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002872839] Chr2:50053488 [GRCh38]
Chr2:50280626 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.26G>A (p.Gly9Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002914865] Chr2:51028248 [GRCh38]
Chr2:51255386 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2880-5C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003043285] Chr2:50496100 [GRCh38]
Chr2:50723238 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.554G>A (p.Arg185His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002576203] Chr2:51027720 [GRCh38]
Chr2:51254858 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.465C>A (p.Val155=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002852043] Chr2:51027809 [GRCh38]
Chr2:51254947 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4450A>G (p.Lys1484Glu) single nucleotide variant Inborn genetic diseases [RCV004642108]|Pitt-Hopkins-like syndrome 2 [RCV003005712] Chr2:49922018 [GRCh38]
Chr2:50149156 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1143G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002853168] Chr2:51026359 [GRCh38]
Chr2:51253497 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.132C>G (p.Pro44=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003023467] Chr2:51028142 [GRCh38]
Chr2:51255280 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2616G>A (p.Leu872=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002875851] Chr2:50497596 [GRCh38]
Chr2:50724734 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1974A>G (p.Gln658=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002958157] Chr2:50538422 [GRCh38]
Chr2:50765560 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.858C>G (p.Phe286Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002599852] Chr2:50623590 [GRCh38]
Chr2:50850728 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.199G>A (p.Val67Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003046245] Chr2:51028075 [GRCh38]
Chr2:51255213 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2388G>A (p.Glu796=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002629295] Chr2:50506604 [GRCh38]
Chr2:50733742 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1423A>C (p.Asn475His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003047306] Chr2:50552923 [GRCh38]
Chr2:50780061 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.193_195dup (p.Gly65_Leu66insGly) duplication Pitt-Hopkins-like syndrome 2 [RCV002833099] Chr2:51028078..51028079 [GRCh38]
Chr2:51255216..51255217 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.320C>A (p.Thr107Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002633140] Chr2:51027954 [GRCh38]
Chr2:51255092 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1326A>T (p.Val442=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003026756] Chr2:50553020 [GRCh38]
Chr2:50780158 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.6G>A (p.Gly2=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002629067] Chr2:51028268 [GRCh38]
Chr2:51255406 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1299C>G (p.Asn433Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002934023] Chr2:50620043 [GRCh38]
Chr2:50847181 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2008C>T (p.Pro670Ser) single nucleotide variant Inborn genetic diseases [RCV002718095]|Pitt-Hopkins-like syndrome 2 [RCV003777676] Chr2:50538388 [GRCh38]
Chr2:50765526 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1119C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002938351] Chr2:51026383 [GRCh38]
Chr2:51253521 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+17G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003030792] Chr2:51027485 [GRCh38]
Chr2:51254623 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4132A>G (p.Thr1378Ala) single nucleotide variant Inborn genetic diseases [RCV002718461] Chr2:49943788 [GRCh38]
Chr2:50170926 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2802G>A (p.Lys934=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002810903] Chr2:50497410 [GRCh38]
Chr2:50724548 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4382G>C (p.Gly1461Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002962567] Chr2:49922086 [GRCh38]
Chr2:50149224 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2354T>A (p.Ile785Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003026417] Chr2:50528645 [GRCh38]
Chr2:50755783 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2065G>A (p.Gly689Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003008531] Chr2:50538331 [GRCh38]
Chr2:50765469 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2498-7C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003029048] Chr2:50497721 [GRCh38]
Chr2:50724859 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.243G>C (p.Leu81=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003091838] Chr2:51028031 [GRCh38]
Chr2:51255169 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1753C>T (p.Arg585Trp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003030806]|Pitt-Hopkins-like syndrome 2 [RCV004796752] Chr2:50552593 [GRCh38]
Chr2:50779731 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.472C>A (p.Leu158Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003064929] Chr2:51027802 [GRCh38]
Chr2:51254940 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2347+11G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002599861] Chr2:50531216 [GRCh38]
Chr2:50758354 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1134+1G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003065825] Chr2:50623313 [GRCh38]
Chr2:50850451 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.2502A>C (p.Gln834His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003045903] Chr2:50497710 [GRCh38]
Chr2:50724848 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.615C>T (p.Asp205=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002937057] Chr2:51027659 [GRCh38]
Chr2:51254797 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3364+1G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003093011] Chr2:50465441 [GRCh38]
Chr2:50692579 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.1216_1217dup (p.Met407fs) duplication Pitt-Hopkins-like syndrome 2 [RCV003052079] Chr2:50620124..50620125 [GRCh38]
Chr2:50847262..50847263 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2143+16C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002942899] Chr2:50538237 [GRCh38]
Chr2:50765375 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1320+20G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002634771] Chr2:50620002 [GRCh38]
Chr2:50847140 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.978A>G (p.Lys326=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002653671] Chr2:50623470 [GRCh38]
Chr2:50850608 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3245-9G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002584019] Chr2:50465570 [GRCh38]
Chr2:50692708 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4109C>A (p.Thr1370Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002814986] Chr2:50053290 [GRCh38]
Chr2:50280428 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1993A>G (p.Thr665Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003092518] Chr2:50538403 [GRCh38]
Chr2:50765541 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1111C>T single nucleotide variant Inborn genetic diseases [RCV004641973]|Pitt-Hopkins-like syndrome 2 [RCV002589213] Chr2:51026391 [GRCh38]
Chr2:51253529 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2195C>T (p.Pro732Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003070564] Chr2:50531379 [GRCh38]
Chr2:50758517 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.630C>A (p.Asn210Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002635754] Chr2:51027644 [GRCh38]
Chr2:51254782 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3303A>G (p.Gln1101=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002607100] Chr2:50465503 [GRCh38]
Chr2:50692641 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3943G>A (p.Asp1315Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002608954] Chr2:50053456 [GRCh38]
Chr2:50280594 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3488C>T (p.Ala1163Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002943635] Chr2:50236847 [GRCh38]
Chr2:50463985 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3707G>A (p.Arg1236His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003092693] Chr2:50091334 [GRCh38]
Chr2:50318472 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3715G>C (p.Ala1239Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002607596] Chr2:50091326 [GRCh38]
Chr2:50318464 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.813C>T (p.Gly271=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002588735]|not provided [RCV004725539] Chr2:50922665 [GRCh38]
Chr2:51149803 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.4294G>A (p.Gly1432Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003070846] Chr2:49922174 [GRCh38]
Chr2:50149312 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.298C>T (p.Pro100Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002612624] Chr2:51027976 [GRCh38]
Chr2:51255114 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.112G>A (p.Gly38Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003032170] Chr2:51028162 [GRCh38]
Chr2:51255300 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.616G>C (p.Asp206His) single nucleotide variant Inborn genetic diseases [RCV003219361]|Pitt-Hopkins-like syndrome 2 [RCV003779711] Chr2:51027658 [GRCh38]
Chr2:51254796 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.791-18C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003875503]|not specified [RCV004783128] Chr2:50922705 [GRCh38]
Chr2:51149843 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.622C>T (p.Pro208Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003511300] Chr2:51027652 [GRCh38]
Chr2:51254790 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51201101-51512609)x1 copy number loss not provided [RCV003484760] Chr2:51201101..51512609 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50975816-51411126)x1 copy number loss not provided [RCV003484716] Chr2:50975816..51411126 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.317A>C (p.Asp106Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003875550] Chr2:51027957 [GRCh38]
Chr2:51255095 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2144-15A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003873376] Chr2:50531445 [GRCh38]
Chr2:50758583 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1394T>C (p.Ile465Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003825618] Chr2:50552952 [GRCh38]
Chr2:50780090 [GRCh37]
Chr2:2p16.3		 uncertain significance
Single allele deletion not provided [RCV003448675] Chr2:51149000..51220337 [GRCh37]
Chr2:2p16.3		 likely pathogenic
GRCh37/hg19 2p16.3(chr2:50766007-50927534)x1 copy number loss not provided [RCV003484705] Chr2:50766007..50927534 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51008640-51089736)x1 copy number loss not provided [RCV003484727] Chr2:51008640..51089736 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3218del (p.Asn1073fs) deletion Pitt-Hopkins-like syndrome 2 [RCV003479895] Chr2:50472324 [GRCh38]
Chr2:50699462 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.3714T>C (p.Pro1238=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003511259] Chr2:50091327 [GRCh38]
Chr2:50318465 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4341_4350del (p.Ile1447fs) deletion not provided [RCV003442443] Chr2:49922118..49922127 [GRCh38]
Chr2:50149256..50149265 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.648G>A (p.Pro216=) single nucleotide variant not provided [RCV003426962] Chr2:51027626 [GRCh38]
Chr2:51254764 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.210C>T (p.Phe70=) single nucleotide variant not provided [RCV003426963] Chr2:51028064 [GRCh38]
Chr2:51255202 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-109875G>C single nucleotide variant not provided [RCV004777274] Chr2:50346845 [GRCh38]
Chr2:50573983 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4372C>T (p.Arg1458Trp) single nucleotide variant NRXN1-related disorder [RCV004527906] Chr2:49922096 [GRCh38]
Chr2:50149234 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.411G>T (p.Trp137Cys) single nucleotide variant NRXN1-related disorder [RCV004527937] Chr2:51027863 [GRCh38]
Chr2:51255001 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4317C>T (p.Ala1439=) single nucleotide variant not provided [RCV003426960] Chr2:49922151 [GRCh38]
Chr2:50149289 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3365-109942G>A single nucleotide variant not provided [RCV003415569] Chr2:50346912 [GRCh38]
Chr2:50574050 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2216C>T (p.Ala739Val) single nucleotide variant not provided [RCV003415570] Chr2:50531358 [GRCh38]
Chr2:50758496 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.12:g.51032120_51032149dup duplication not provided [RCV003415571] Chr2:51032117..51032118 [GRCh38]
Chr2:51259255..51259256 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2272A>G (p.Thr758Ala) single nucleotide variant not provided [RCV003426961] Chr2:50531302 [GRCh38]
Chr2:50758440 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.822del (p.Ser276fs) deletion Pitt-Hopkins-like syndrome 2 [RCV003404845] Chr2:50921879 [GRCh38]
Chr2:51149017 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.3365-109893dup duplication NRXN1-related disorder [RCV004529671]|not provided [RCV004701048] Chr2:50346862..50346863 [GRCh38]
Chr2:50574000..50574001 [GRCh37]
Chr2:2p16.3		 likely pathogenic|uncertain significance
NM_001330078.2(NRXN1):c.2946T>A (p.Pro982=) single nucleotide variant not provided [RCV003407221] Chr2:50496029 [GRCh38]
Chr2:50723167 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2102A>T (p.Asp701Val) single nucleotide variant not provided [RCV003407222] Chr2:50538294 [GRCh38]
Chr2:50765432 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.287T>G (p.Phe96Cys) single nucleotide variant not provided [RCV003407223] Chr2:51027987 [GRCh38]
Chr2:51255125 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.314C>G (p.Ala105Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003883343] Chr2:51027960 [GRCh38]
Chr2:51255098 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.44G>A (p.Cys15Tyr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003511200] Chr2:51028230 [GRCh38]
Chr2:51255368 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.316G>T (p.Asp106Tyr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510408] Chr2:51027958 [GRCh38]
Chr2:51255096 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3752G>C (p.Arg1251Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510429] Chr2:50055011 [GRCh38]
Chr2:50282149 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.12:g.(?_50574106)_(50580198_?)del deletion Autism spectrum disorder [RCV003883239] Chr2:50574106..50580198 [GRCh38]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1759+4del deletion Pitt-Hopkins-like syndrome 2 [RCV003509296] Chr2:50552583 [GRCh38]
Chr2:50779721 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.830A>G (p.Lys277Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510748] Chr2:50921871 [GRCh38]
Chr2:51149009 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2100T>A (p.Cys700Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510952] Chr2:50538296 [GRCh38]
Chr2:50765434 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.3244+6A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003511148] Chr2:50472292 [GRCh38]
Chr2:50699430 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.478C>G (p.Pro160Ala) single nucleotide variant Inborn genetic diseases [RCV004369295]|Pitt-Hopkins-like syndrome 2 [RCV003509134] Chr2:51027796 [GRCh38]
Chr2:51254934 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.334G>A (p.Gly112Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003825756] Chr2:51027940 [GRCh38]
Chr2:51255078 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.821-18A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510776] Chr2:50921898 [GRCh38]
Chr2:51149036 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1851G>A (p.Gly617=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003511329] Chr2:50538545 [GRCh38]
Chr2:50765683 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2215G>C (p.Ala739Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509278] Chr2:50531359 [GRCh38]
Chr2:50758497 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3071-11T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510810] Chr2:50472482 [GRCh38]
Chr2:50699620 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3548A>G (p.His1183Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510858] Chr2:50091493 [GRCh38]
Chr2:50318631 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3384T>G (p.Phe1128Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509460] Chr2:50236951 [GRCh38]
Chr2:50464089 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4170C>T (p.Ser1390=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510352] Chr2:49943750 [GRCh38]
Chr2:50170888 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2738C>T (p.Ser913Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003511057] Chr2:50497474 [GRCh38]
Chr2:50724612 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.758A>G (p.Lys253Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509847] Chr2:51027516 [GRCh38]
Chr2:51254654 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1205A>G (p.Gln402Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510365] Chr2:50620137 [GRCh38]
Chr2:50847275 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4413del (p.Asn1470_Tyr1471insTer) deletion Pitt-Hopkins-like syndrome 2 [RCV003511056] Chr2:49922055 [GRCh38]
Chr2:50149193 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.30C>A (p.Gly10=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510458] Chr2:51028244 [GRCh38]
Chr2:51255382 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.368T>A (p.Phe123Tyr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510488] Chr2:51027906 [GRCh38]
Chr2:51255044 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.5G>C (p.Gly2Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003511193] Chr2:51028269 [GRCh38]
Chr2:51255407 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.79C>A (p.Leu27Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510472] Chr2:51028195 [GRCh38]
Chr2:51255333 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1363C>G (p.Leu455Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510525] Chr2:50552983 [GRCh38]
Chr2:50780121 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1581G>A (p.Gln527=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003511367] Chr2:50552765 [GRCh38]
Chr2:50779903 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1744A>C (p.Arg582=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003511368] Chr2:50552602 [GRCh38]
Chr2:50779740 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2429A>G (p.His810Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509944] Chr2:50506563 [GRCh38]
Chr2:50733701 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4326C>T (p.Ala1442=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510541] Chr2:49922142 [GRCh38]
Chr2:50149280 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3718+19A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003511140] Chr2:50091304 [GRCh38]
Chr2:50318442 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4041G>A (p.Met1347Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509954] Chr2:50053358 [GRCh38]
Chr2:50280496 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1006A>G (p.Lys336Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510575] Chr2:50623442 [GRCh38]
Chr2:50850580 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1374A>G (p.Gln458=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510569] Chr2:50552972 [GRCh38]
Chr2:50780110 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.285dup (p.Phe96fs) duplication Pitt-Hopkins-like syndrome 2 [RCV003510081] Chr2:51027988..51027989 [GRCh38]
Chr2:51255126..51255127 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.3547-14dup duplication Pitt-Hopkins-like syndrome 2 [RCV003509182] Chr2:50091507..50091508 [GRCh38]
Chr2:50318645..50318646 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.3718+6C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509202] Chr2:50091317 [GRCh38]
Chr2:50318455 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1198T>A (p.Tyr400Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510116] Chr2:50620144 [GRCh38]
Chr2:50847282 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2879+7A>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510747] Chr2:50497326 [GRCh38]
Chr2:50724464 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3706C>T (p.Arg1236Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510758] Chr2:50091335 [GRCh38]
Chr2:50318473 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3411T>A (p.Tyr1137Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510692] Chr2:50236924 [GRCh38]
Chr2:50464062 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.1158+28A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510819] Chr2:50621198 [GRCh38]
Chr2:50848336 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.821-14C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510866] Chr2:50921894 [GRCh38]
Chr2:51149032 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.669C>T (p.Gly223=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509464] Chr2:51027605 [GRCh38]
Chr2:51254743 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2347+9C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003879263] Chr2:50531218 [GRCh38]
Chr2:50758356 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2827C>T (p.Leu943=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510275] Chr2:50497385 [GRCh38]
Chr2:50724523 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.100C>G (p.Pro34Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510189] Chr2:51028174 [GRCh38]
Chr2:51255312 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2756C>T (p.Ala919Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510800] Chr2:50497456 [GRCh38]
Chr2:50724594 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3002A>C (p.His1001Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510092] Chr2:50495973 [GRCh38]
Chr2:50723111 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.395A>G (p.Gln132Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510807] Chr2:51027879 [GRCh38]
Chr2:51255017 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1135-13dup duplication Pitt-Hopkins-like syndrome 2 [RCV003511362] Chr2:50621261..50621262 [GRCh38]
Chr2:50848399..50848400 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.366G>T (p.Gln122His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509295] Chr2:51027908 [GRCh38]
Chr2:51255046 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2422G>T (p.Glu808Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510211] Chr2:50506570 [GRCh38]
Chr2:50733708 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.675C>G (p.Gly225=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509432] Chr2:51027599 [GRCh38]
Chr2:51254737 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1519G>C (p.Asp507His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509476] Chr2:50552827 [GRCh38]
Chr2:50779965 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1626T>A (p.Ala542=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510356] Chr2:50552720 [GRCh38]
Chr2:50779858 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.890C>A (p.Ser297Tyr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510555] Chr2:50623558 [GRCh38]
Chr2:50850696 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2974A>G (p.Met992Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510562] Chr2:50496001 [GRCh38]
Chr2:50723139 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1145T>C (p.Ile382Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510644] Chr2:50621239 [GRCh38]
Chr2:50848377 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1158+40G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509901] Chr2:50621186 [GRCh38]
Chr2:50848324 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1120C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509872] Chr2:51026382 [GRCh38]
Chr2:51253520 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.349G>T (p.Val117Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509911] Chr2:51027925 [GRCh38]
Chr2:51255063 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1342G>A (p.Val448Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509953] Chr2:50553004 [GRCh38]
Chr2:50780142 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2724C>T (p.Thr908=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510723] Chr2:50497488 [GRCh38]
Chr2:50724626 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4089C>T (p.Ala1363=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509934] Chr2:50053310 [GRCh38]
Chr2:50280448 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1321-17C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510055] Chr2:50553042 [GRCh38]
Chr2:50780180 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2632G>A (p.Ala878Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510742] Chr2:50497580 [GRCh38]
Chr2:50724718 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3473C>G (p.Thr1158Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510069] Chr2:50236862 [GRCh38]
Chr2:50464000 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.791-16C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003511164] Chr2:50922703 [GRCh38]
Chr2:51149841 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3682G>T (p.Val1228Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510033] Chr2:50091359 [GRCh38]
Chr2:50318497 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.264C>T (p.Arg88=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620577] Chr2:51028010 [GRCh38]
Chr2:51255148 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3208C>G (p.Leu1070Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620584] Chr2:50472334 [GRCh38]
Chr2:50699472 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4005A>T (p.Thr1335=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620774] Chr2:50053394 [GRCh38]
Chr2:50280532 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2440G>A (p.Val814Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620779] Chr2:50506552 [GRCh38]
Chr2:50733690 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3907A>G (p.Asn1303Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619499] Chr2:50053492 [GRCh38]
Chr2:50280630 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1489A>T (p.Asn497Tyr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620797] Chr2:50552857 [GRCh38]
Chr2:50779995 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2961G>A (p.Gln987=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620955] Chr2:50496014 [GRCh38]
Chr2:50723152 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3331A>G (p.Met1111Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620805] Chr2:50465475 [GRCh38]
Chr2:50692613 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2204T>C (p.Met735Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620807] Chr2:50531370 [GRCh38]
Chr2:50758508 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.377C>A (p.Thr126Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620810] Chr2:51027897 [GRCh38]
Chr2:51255035 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1912T>C (p.Tyr638His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620811] Chr2:50538484 [GRCh38]
Chr2:50765622 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.279C>G (p.Phe93Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620813] Chr2:51027995 [GRCh38]
Chr2:51255133 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3978_3979delinsAT (p.Val1327Phe) indel Pitt-Hopkins-like syndrome 2 [RCV003620663] Chr2:50053420..50053421 [GRCh38]
Chr2:50280558..50280559 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1647C>T (p.His549=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003811402] Chr2:50552699 [GRCh38]
Chr2:50779837 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.151G>A (p.Glu51Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619884] Chr2:51028123 [GRCh38]
Chr2:51255261 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3630G>A (p.Gly1210=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620340] Chr2:50091411 [GRCh38]
Chr2:50318549 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.820+11T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620348] Chr2:50922647 [GRCh38]
Chr2:51149785 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3134C>T (p.Ala1045Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620668] Chr2:50472408 [GRCh38]
Chr2:50699546 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3808+14A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620840] Chr2:50054941 [GRCh38]
Chr2:50282079 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3844A>G (p.Ile1282Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620046] Chr2:50053555 [GRCh38]
Chr2:50280693 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1395C>A (p.Ile465=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620844] Chr2:50552951 [GRCh38]
Chr2:50780089 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2621T>G (p.Phe874Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620069] Chr2:50497591 [GRCh38]
Chr2:50724729 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1555T>C (p.Phe519Leu) single nucleotide variant Inborn genetic diseases [RCV004371574]|Pitt-Hopkins-like syndrome 2 [RCV003620083] Chr2:50552791 [GRCh38]
Chr2:50779929 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-15G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620383] Chr2:50236985 [GRCh38]
Chr2:50464123 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3079T>C (p.Tyr1027His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620686] Chr2:50472463 [GRCh38]
Chr2:50699601 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.933A>G (p.Ser311=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620853] Chr2:50623515 [GRCh38]
Chr2:50850653 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.499C>G (p.Leu167Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620695] Chr2:51027775 [GRCh38]
Chr2:51254913 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1009A>G (p.Asn337Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620871] Chr2:50623439 [GRCh38]
Chr2:50850577 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1870G>A (p.Gly624Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619503] Chr2:50538526 [GRCh38]
Chr2:50765664 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2205G>A (p.Met735Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620138] Chr2:50531369 [GRCh38]
Chr2:50758507 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.473_474del (p.Leu158fs) deletion Pitt-Hopkins-like syndrome 2 [RCV003620885] Chr2:51027800..51027801 [GRCh38]
Chr2:51254938..51254939 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.470G>C (p.Gly157Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620886] Chr2:51027804 [GRCh38]
Chr2:51254942 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.789A>G (p.Glu263=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619586] Chr2:50925939 [GRCh38]
Chr2:51153077 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.832+20C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620174] Chr2:50921849 [GRCh38]
Chr2:51148987 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1223T>C (p.Leu408Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620733] Chr2:50620119 [GRCh38]
Chr2:50847257 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.454G>T (p.Gly152Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620890] Chr2:51027820 [GRCh38]
Chr2:51254958 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4140C>T (p.Asp1380=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619434] Chr2:49943780 [GRCh38]
Chr2:50170918 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.739C>A (p.Arg247=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619628] Chr2:51027535 [GRCh38]
Chr2:51254673 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4129-9C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620213] Chr2:49943800 [GRCh38]
Chr2:50170938 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3402A>T (p.Gln1134His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620741] Chr2:50236933 [GRCh38]
Chr2:50464071 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.10G>C (p.Ala4Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620745] Chr2:51028264 [GRCh38]
Chr2:51255402 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2348-13C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619454] Chr2:50528664 [GRCh38]
Chr2:50755802 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.480G>A (p.Pro160=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003856271]|not provided [RCV004810556] Chr2:51027794 [GRCh38]
Chr2:51254932 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3665G>A (p.Gly1222Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620748] Chr2:50091376 [GRCh38]
Chr2:50318514 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3508A>G (p.Ser1170Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620752] Chr2:50236827 [GRCh38]
Chr2:50463965 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2963G>A (p.Trp988Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620756] Chr2:50496012 [GRCh38]
Chr2:50723150 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2554A>G (p.Ile852Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620914] Chr2:50497658 [GRCh38]
Chr2:50724796 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3547-13T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620550] Chr2:50091507 [GRCh38]
Chr2:50318645 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2945C>T (p.Pro982Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620554] Chr2:50496030 [GRCh38]
Chr2:50723168 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2298C>T (p.Thr766=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620761] Chr2:50531276 [GRCh38]
Chr2:50758414 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3033G>C (p.Thr1011=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620767] Chr2:50495942 [GRCh38]
Chr2:50723080 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1159-20C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619265] Chr2:50620203 [GRCh38]
Chr2:50847341 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1311T>C (p.Cys437=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620515] Chr2:50620031 [GRCh38]
Chr2:50847169 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.463G>A (p.Val155Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620122] Chr2:51027811 [GRCh38]
Chr2:51254949 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.832+16A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620126] Chr2:50921853 [GRCh38]
Chr2:51148991 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1135-14C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620402] Chr2:50621263 [GRCh38]
Chr2:50848401 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3017A>G (p.Asp1006Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620539] Chr2:50495958 [GRCh38]
Chr2:50723096 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2879+19A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620629] Chr2:50497314 [GRCh38]
Chr2:50724452 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2498-6T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002835321] Chr2:50497720 [GRCh38]
Chr2:50724858 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.578A>G (p.Gln193Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002933516] Chr2:51027696 [GRCh38]
Chr2:51254834 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3809-19T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003060995] Chr2:50053609 [GRCh38]
Chr2:50280747 [GRCh37]
Chr2:2p16.3		 likely benign|uncertain significance
NM_001330078.2(NRXN1):c.1312C>G (p.Leu438Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002937943] Chr2:50620030 [GRCh38]
Chr2:50847168 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.363C>T (p.Arg121=) single nucleotide variant NRXN1-related disorder [RCV004540550]|Pitt-Hopkins-like syndrome 2 [RCV003091837] Chr2:51027911 [GRCh38]
Chr2:51255049 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3387C>G (p.Ser1129Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002632446] Chr2:50236948 [GRCh38]
Chr2:50464086 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2144-4C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002658367] Chr2:50531434 [GRCh38]
Chr2:50758572 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2496A>G (p.Thr832=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003093030] Chr2:50506496 [GRCh38]
Chr2:50733634 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109979A>C single nucleotide variant not provided [RCV003149538] Chr2:50346949 [GRCh38]
Chr2:50574087 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1975A>C (p.Met659Leu) single nucleotide variant not provided [RCV003154410] Chr2:50538421 [GRCh38]
Chr2:50765559 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.412G>A (p.Val138Met) single nucleotide variant not provided [RCV004781502] Chr2:51027862 [GRCh38]
Chr2:51255000 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3488C>A (p.Ala1163Asp) single nucleotide variant not provided [RCV003223817] Chr2:50236847 [GRCh38]
Chr2:50463985 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3515C>T (p.Ser1172Leu) single nucleotide variant Inborn genetic diseases [RCV003214710]|Pitt-Hopkins-like syndrome 2 [RCV005101324] Chr2:50236820 [GRCh38]
Chr2:50463958 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109746A>G single nucleotide variant not provided [RCV003329946] Chr2:50346716 [GRCh38]
Chr2:50573854 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3004A>G (p.Thr1002Ala) single nucleotide variant not provided [RCV003327031] Chr2:50495971 [GRCh38]
Chr2:50723109 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1072T>C single nucleotide variant Inborn genetic diseases [RCV003343238] Chr2:51026430 [GRCh38]
Chr2:51253568 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51130351-51216518)x1 copy number loss not provided [RCV003484749] Chr2:51130351..51216518 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:51078336-51512609)x1 copy number loss not provided [RCV003484738] Chr2:51078336..51512609 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.4129-11T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003874807] Chr2:49943802 [GRCh38]
Chr2:50170940 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4352C>G (p.Ala1451Gly) single nucleotide variant not provided [RCV003426959] Chr2:49922116 [GRCh38]
Chr2:50149254 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109726G>A single nucleotide variant not provided [RCV003442691] Chr2:50346696 [GRCh38]
Chr2:50573834 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2879+6T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510103] Chr2:50497327 [GRCh38]
Chr2:50724465 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2144-7T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510159] Chr2:50531437 [GRCh38]
Chr2:50758575 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4373G>T (p.Arg1458Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510272] Chr2:49922095 [GRCh38]
Chr2:50149233 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1174G>C (p.Asp392His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509011] Chr2:50620168 [GRCh38]
Chr2:50847306 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1620C>T (p.Phe540=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510311] Chr2:50552726 [GRCh38]
Chr2:50779864 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.121A>C (p.Thr41Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510924] Chr2:51028153 [GRCh38]
Chr2:51255291 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1611G>A (p.Lys537=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510948] Chr2:50552735 [GRCh38]
Chr2:50779873 [GRCh37]
Chr2:2p16.3		 likely benign
GRCh38/hg38 2p16.3(chr2:50590007-50802034) copy number loss Autism spectrum disorder [RCV003883390] Chr2:50590007..50802034 [GRCh38]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.966T>A (p.Leu322=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509378] Chr2:50623482 [GRCh38]
Chr2:50850620 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2278T>C (p.Ser760Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510337] Chr2:50531296 [GRCh38]
Chr2:50758434 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+16C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003511253] Chr2:51027486 [GRCh38]
Chr2:51254624 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1064G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003511350] Chr2:51026438 [GRCh38]
Chr2:51253576 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3349C>T (p.Pro1117Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510518] Chr2:50465457 [GRCh38]
Chr2:50692595 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1839G>C (p.Leu613Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509415] Chr2:50538557 [GRCh38]
Chr2:50765695 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.17T>C (p.Leu6Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509261] Chr2:51028257 [GRCh38]
Chr2:51255395 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4472C>A (p.Ala1491Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510615] Chr2:49921996 [GRCh38]
Chr2:50149134 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.544G>T (p.Gly182Trp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003510616] Chr2:51027730 [GRCh38]
Chr2:51254868 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1790C>A (p.Pro597His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003882636] Chr2:50538606 [GRCh38]
Chr2:50765744 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4034C>T (p.Ser1345Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509989] Chr2:50053365 [GRCh38]
Chr2:50280503 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2349T>C (p.Asp783=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005170685] Chr2:50528650 [GRCh38]
Chr2:50755788 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.142G>T (p.Ala48Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620786] Chr2:51028132 [GRCh38]
Chr2:51255270 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.259G>A (p.Gly87Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619971] Chr2:51028015 [GRCh38]
Chr2:51255153 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1158+12A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619896] Chr2:50621214 [GRCh38]
Chr2:50848352 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3420T>A (p.Pro1140=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620652] Chr2:50236915 [GRCh38]
Chr2:50464053 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3071G>A (p.Ser1024Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620005] Chr2:50472471 [GRCh38]
Chr2:50699609 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1143G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620880] Chr2:51026359 [GRCh38]
Chr2:51253497 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.144C>T (p.Ala48=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620154] Chr2:51028130 [GRCh38]
Chr2:51255268 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2632G>T (p.Ala878Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620897] Chr2:50497580 [GRCh38]
Chr2:50724718 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.790+19A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620236] Chr2:50925919 [GRCh38]
Chr2:51153057 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.791-5_791-4insA insertion Pitt-Hopkins-like syndrome 2 [RCV003619383] Chr2:50922691..50922692 [GRCh38]
Chr2:51149829..51149830 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1323T>C (p.Val441=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619397] Chr2:50553023 [GRCh38]
Chr2:50780161 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1503T>A (p.Thr501=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620169] Chr2:50552843 [GRCh38]
Chr2:50779981 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1065G>C (p.Val355=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620571] Chr2:50623383 [GRCh38]
Chr2:50850521 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.820+17T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619468] Chr2:50922641 [GRCh38]
Chr2:51149779 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.738G>C (p.Ser246=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619476] Chr2:51027536 [GRCh38]
Chr2:51254674 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1043C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619287] Chr2:51026459 [GRCh38]
Chr2:51253597 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3247C>T (p.Pro1083Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619270] Chr2:50465559 [GRCh38]
Chr2:50692697 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1134+20G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619178] Chr2:50623294 [GRCh38]
Chr2:50850432 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.969C>T (p.His323=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620195] Chr2:50623479 [GRCh38]
Chr2:50850617 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3195C>A (p.Leu1065=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619438] Chr2:50472347 [GRCh38]
Chr2:50699485 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4200G>A (p.Pro1400=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619367] Chr2:49943720 [GRCh38]
Chr2:50170858 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.338C>G (p.Ala113Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620210] Chr2:51027936 [GRCh38]
Chr2:51255074 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2082G>A (p.Gly694=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619521] Chr2:50538314 [GRCh38]
Chr2:50765452 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.255C>T (p.Arg85=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619526] Chr2:51028019 [GRCh38]
Chr2:51255157 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2910T>C (p.Asn970=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620254] Chr2:50496065 [GRCh38]
Chr2:50723203 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2480A>G (p.Asp827Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620257] Chr2:50506512 [GRCh38]
Chr2:50733650 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1128G>T (p.Leu376=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620261] Chr2:50623320 [GRCh38]
Chr2:50850458 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2348-16A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619856] Chr2:50528667 [GRCh38]
Chr2:50755805 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1321-19T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619865] Chr2:50553044 [GRCh38]
Chr2:50780182 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2274C>G (p.Thr758=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620300] Chr2:50531300 [GRCh38]
Chr2:50758438 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1577A>G (p.His526Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619991] Chr2:50552769 [GRCh38]
Chr2:50779907 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1050C>A (p.Ala350=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620323] Chr2:50623398 [GRCh38]
Chr2:50850536 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2095G>A (p.Val699Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619974] Chr2:50538301 [GRCh38]
Chr2:50765439 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1387A>G (p.Met463Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620017] Chr2:50552959 [GRCh38]
Chr2:50780097 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2358G>C (p.Arg786Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620583] Chr2:50528641 [GRCh38]
Chr2:50755779 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.776A>G (p.Asp259Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620589] Chr2:50925952 [GRCh38]
Chr2:51153090 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1824C>T (p.Asp608=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619241] Chr2:50538572 [GRCh38]
Chr2:50765710 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4022C>G (p.Thr1341Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003831939] Chr2:50053377 [GRCh38]
Chr2:50280515 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.317A>G (p.Asp106Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003852071] Chr2:51027957 [GRCh38]
Chr2:51255095 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1787C>T (p.Thr596Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003855040] Chr2:50538609 [GRCh38]
Chr2:50765747 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4217-14C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619184] Chr2:49922265 [GRCh38]
Chr2:50149403 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1059A>G (p.Ala353=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621377] Chr2:50623389 [GRCh38]
Chr2:50850527 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2297C>T (p.Thr766Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621403] Chr2:50531277 [GRCh38]
Chr2:50758415 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2000G>T (p.Gly667Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621213] Chr2:50538396 [GRCh38]
Chr2:50765534 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3546+20G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621244] Chr2:50236769 [GRCh38]
Chr2:50463907 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2458A>G (p.Ser820Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003862472] Chr2:50506534 [GRCh38]
Chr2:50733672 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2094T>C (p.Tyr698=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621437] Chr2:50538302 [GRCh38]
Chr2:50765440 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1030A>C (p.Ile344Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621472] Chr2:50623418 [GRCh38]
Chr2:50850556 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.88G>C (p.Gly30Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621131] Chr2:51028186 [GRCh38]
Chr2:51255324 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.833-2A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621149] Chr2:50623617 [GRCh38]
Chr2:50850755 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.1828G>A (p.Asp610Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003820199] Chr2:50538568 [GRCh38]
Chr2:50765706 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.827G>T (p.Ser276Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621180] Chr2:50921874 [GRCh38]
Chr2:51149012 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.673G>A (p.Gly225Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621266] Chr2:51027601 [GRCh38]
Chr2:51254739 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2447G>T (p.Arg816Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621310] Chr2:50506545 [GRCh38]
Chr2:50733683 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3757C>A (p.Arg1253=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621485] Chr2:50055006 [GRCh38]
Chr2:50282144 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.773-17T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003843157] Chr2:50925972 [GRCh38]
Chr2:51153110 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1391A>G (p.Lys464Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621158] Chr2:50552955 [GRCh38]
Chr2:50780093 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.159G>C (p.Glu53Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003847283] Chr2:51028115 [GRCh38]
Chr2:51255253 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1652A>G (p.Tyr551Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621255] Chr2:50552694 [GRCh38]
Chr2:50779832 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1007A>G (p.Lys336Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621351] Chr2:50623441 [GRCh38]
Chr2:50850579 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.811G>C (p.Gly271Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620968] Chr2:50922667 [GRCh38]
Chr2:51149805 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4120A>G (p.Ile1374Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621013] Chr2:50053279 [GRCh38]
Chr2:50280417 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3720A>G (p.Gly1240=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003844695] Chr2:50055043 [GRCh38]
Chr2:50282181 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.250A>T (p.Thr84Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620977] Chr2:51028024 [GRCh38]
Chr2:51255162 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1463_1464del (p.Glu488fs) microsatellite Pitt-Hopkins-like syndrome 2 [RCV003621194] Chr2:50552882..50552883 [GRCh38]
Chr2:50780020..50780021 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.791-8C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621230] Chr2:50922695 [GRCh38]
Chr2:51149833 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.340T>G (p.Trp114Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621301] Chr2:51027934 [GRCh38]
Chr2:51255072 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2204T>G (p.Met735Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621309] Chr2:50531370 [GRCh38]
Chr2:50758508 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.505C>T (p.Leu169Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621311] Chr2:51027769 [GRCh38]
Chr2:51254907 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51027613-51480512)x1 copy number loss not specified [RCV003986187] Chr2:51027613..51480512 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2225_2228dup (p.Leu744fs) duplication Pitt-Hopkins-like syndrome 2 [RCV003621368] Chr2:50531345..50531346 [GRCh38]
Chr2:50758483..50758484 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50988748-51289587)x1 copy number loss not specified [RCV003986378] Chr2:50988748..51289587 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50954599-51351114)x1 copy number loss not specified [RCV003986359] Chr2:50954599..51351114 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2563C>T (p.Arg855Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003871821]|not provided [RCV004723532] Chr2:50497649 [GRCh38]
Chr2:50724787 [GRCh37]
Chr2:2p16.3		 pathogenic|likely pathogenic
GRCh37/hg19 2p16.3(chr2:50130766-50170284)x3 copy number gain not specified [RCV003986309] Chr2:50130766..50170284 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3244+7G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003870444] Chr2:50472291 [GRCh38]
Chr2:50699429 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.-31G>C single nucleotide variant NRXN1-related disorder [RCV004531932] Chr2:51028304 [GRCh38]
Chr2:51255442 [GRCh37]
Chr2:2p16.3		 likely benign
GRCh37/hg19 2p16.3(chr2:51002769-51188464)x1 copy number loss not specified [RCV003986327] Chr2:51002769..51188464 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50861048-51874700)x1 copy number loss not specified [RCV003986381] Chr2:50861048..51874700 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.833-16A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620976] Chr2:50623631 [GRCh38]
Chr2:50850769 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.85A>C (p.Ser29Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621243] Chr2:51028189 [GRCh38]
Chr2:51255327 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.467G>C (p.Gly156Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003863769] Chr2:51027807 [GRCh38]
Chr2:51254945 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3809-10_3809-8del microsatellite Pitt-Hopkins-like syndrome 2 [RCV003621383] Chr2:50053598..50053600 [GRCh38]
Chr2:50280736..50280738 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3070+20G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621395] Chr2:50495885 [GRCh38]
Chr2:50723023 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3778C>T (p.Arg1260Ter) single nucleotide variant Inborn genetic diseases [RCV004636807]|Pitt-Hopkins-like syndrome 2 [RCV003621428] Chr2:50054985 [GRCh38]
Chr2:50282123 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.772+1053T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003869065] Chr2:51026449 [GRCh38]
Chr2:51253587 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4G>C (p.Gly2Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003818950] Chr2:51028270 [GRCh38]
Chr2:51255408 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.449T>G (p.Phe150Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003861729] Chr2:51027825 [GRCh38]
Chr2:51254963 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2807C>T (p.Thr936Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003863718] Chr2:50497405 [GRCh38]
Chr2:50724543 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1141T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003865111] Chr2:51026361 [GRCh38]
Chr2:51253499 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1552T>G (p.Leu518Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621026] Chr2:50552794 [GRCh38]
Chr2:50779932 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.832+16A>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621069] Chr2:50921853 [GRCh38]
Chr2:51148991 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3718+9G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621030] Chr2:50091314 [GRCh38]
Chr2:50318452 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4345C>A (p.Leu1449Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621049] Chr2:49922123 [GRCh38]
Chr2:50149261 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3069G>C (p.Lys1023Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621124] Chr2:50495906 [GRCh38]
Chr2:50723044 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2498-3T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621096] Chr2:50497717 [GRCh38]
Chr2:50724855 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2014T>G (p.Cys672Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621189] Chr2:50538382 [GRCh38]
Chr2:50765520 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.6G>C (p.Gly2=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621209] Chr2:51028268 [GRCh38]
Chr2:51255406 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2638A>C (p.Ile880Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621264] Chr2:50497574 [GRCh38]
Chr2:50724712 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3070+1G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621270] Chr2:50495904 [GRCh38]
Chr2:50723042 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.22C>A (p.Arg8Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621114] Chr2:51028252 [GRCh38]
Chr2:51255390 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.820+35G>C single nucleotide variant NRXN1-related disorder [RCV004540782] Chr2:50922623 [GRCh38]
Chr2:51149761 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.832+1873C>T single nucleotide variant NRXN1-related disorder [RCV004532115] Chr2:50919996 [GRCh38]
Chr2:51147134 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.4169G>A (p.Ser1390Asn) single nucleotide variant not provided [RCV003992956] Chr2:49943751 [GRCh38]
Chr2:50170889 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.832+2687C>T single nucleotide variant NRXN1-related disorder [RCV004545690] Chr2:50919182 [GRCh38]
Chr2:51146320 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.414G>C (p.Val138=) single nucleotide variant NRXN1-related disorder [RCV004542500] Chr2:51027860 [GRCh38]
Chr2:51254998 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.454G>A (p.Gly152Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005101451]|not provided [RCV003885861] Chr2:51027820 [GRCh38]
Chr2:51254958 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.820+50G>A single nucleotide variant NRXN1-related disorder [RCV004545589] Chr2:50922608 [GRCh38]
Chr2:51149746 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.832+2683A>G single nucleotide variant NRXN1-related disorder [RCV004545533] Chr2:50919186 [GRCh38]
Chr2:51146324 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.221G>A (p.Gly74Asp) single nucleotide variant Inborn genetic diseases [RCV004493637] Chr2:51028053 [GRCh38]
Chr2:51255191 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_49189872)_(50464128_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV004583664] Chr2:49189872..50464128 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50733613)_(51153113_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV004583665] Chr2:50733613..51153113 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50692560)_(50780183_?)dup duplication Pitt-Hopkins-like syndrome 2 [RCV004583668] Chr2:50692560..50780183 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NC_000002.11:g.(?_50280389)_(50318652_?)dup duplication Pitt-Hopkins-like syndrome 2 [RCV004583669] Chr2:50280389..50318652 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.352C>G (p.Arg118Gly) single nucleotide variant Inborn genetic diseases [RCV004638720] Chr2:51027922 [GRCh38]
Chr2:51255060 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50850729)_(50947381_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV004583672] Chr2:50850729..50947381 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NC_000002.11:g.(?_50724523)_(50808051_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV004583673] Chr2:50724523..50808051 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NC_000002.11:g.(?_51107396)_(51255135_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV004583674] Chr2:51107396..51255135 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NC_000002.11:g.(?_51148987)_(51153113_?)dup duplication Pitt-Hopkins-like syndrome 2 [RCV004583671] Chr2:51148987..51153113 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2666A>G (p.Asp889Gly) single nucleotide variant not provided [RCV004760011] Chr2:50497546 [GRCh38]
Chr2:50724684 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1288G>C (p.Val430Leu) single nucleotide variant NRXN1-related disorder [RCV004729791] Chr2:50620054 [GRCh38]
Chr2:50847192 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2971G>A (p.Val991Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005103614]|not provided [RCV004727756] Chr2:50496004 [GRCh38]
Chr2:50723142 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1262G>T (p.Ser421Ile) single nucleotide variant not provided [RCV004811293] Chr2:50620080 [GRCh38]
Chr2:50847218 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2831A>T (p.Tyr944Phe) single nucleotide variant not provided [RCV004726075] Chr2:50497381 [GRCh38]
Chr2:50724519 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh38/hg38 2p16.3(chr2:50399054-50579740)x1 copy number loss Chromosome 2p16.3 deletion syndrome [RCV004787174] Chr2:50399054..50579740 [GRCh38]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.2537A>G (p.Asn846Ser) single nucleotide variant not provided [RCV004774163] Chr2:50497675 [GRCh38]
Chr2:50724813 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2144-5T>C single nucleotide variant NRXN1-related disorder [RCV004736828] Chr2:50531435 [GRCh38]
Chr2:50758573 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1538C>T (p.Pro513Leu) single nucleotide variant not provided [RCV004727757] Chr2:50552808 [GRCh38]
Chr2:50779946 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3473C>T (p.Thr1158Ile) single nucleotide variant not provided [RCV004764208] Chr2:50236862 [GRCh38]
Chr2:50464000 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2626G>C (p.Gly876Arg) single nucleotide variant not provided [RCV004768180] Chr2:50497586 [GRCh38]
Chr2:50724724 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4376A>T (p.Asp1459Val) single nucleotide variant not provided [RCV004761325] Chr2:49922092 [GRCh38]
Chr2:50149230 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.202C>A (p.Leu68Ile) single nucleotide variant not provided [RCV004769227] Chr2:51028072 [GRCh38]
Chr2:51255210 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3802G>A (p.Asp1268Asn) single nucleotide variant not provided [RCV004720121] Chr2:50054961 [GRCh38]
Chr2:50282099 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.314C>A (p.Ala105Asp) single nucleotide variant not provided [RCV004820525] Chr2:51027960 [GRCh38]
Chr2:51255098 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3123A>T (p.Lys1041Asn) single nucleotide variant Inborn genetic diseases [RCV004954037]|Pitt-Hopkins-like syndrome 2 [RCV005107642] Chr2:50472419 [GRCh38]
Chr2:50699557 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.323C>T (p.Pro108Leu) single nucleotide variant Inborn genetic diseases [RCV004954038] Chr2:51027951 [GRCh38]
Chr2:51255089 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3637C>T (p.His1213Tyr) single nucleotide variant Inborn genetic diseases [RCV004954044] Chr2:50091404 [GRCh38]
Chr2:50318542 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.385T>C (p.Phe129Leu) single nucleotide variant Inborn genetic diseases [RCV004954043] Chr2:51027889 [GRCh38]
Chr2:51255027 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3364+9C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005175659] Chr2:50465433 [GRCh38]
Chr2:50692571 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1134G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005147505] Chr2:51026368 [GRCh38]
Chr2:51253506 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4273C>A (p.Arg1425=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005105725] Chr2:49922195 [GRCh38]
Chr2:50149333 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.248T>A (p.Leu83Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005088116] Chr2:51028026 [GRCh38]
Chr2:51255164 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4386A>G (p.Ser1462=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005175800] Chr2:49922082 [GRCh38]
Chr2:50149220 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2495C>T (p.Thr832Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005147378] Chr2:50506497 [GRCh38]
Chr2:50733635 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.571T>C (p.Ser191Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005147002] Chr2:51027703 [GRCh38]
Chr2:51254841 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3020C>G (p.Thr1007Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005087115] Chr2:50495955 [GRCh38]
Chr2:50723093 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2375-11A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005084743] Chr2:50506628 [GRCh38]
Chr2:50733766 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3684G>A (p.Val1228=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005087824] Chr2:50091357 [GRCh38]
Chr2:50318495 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.790+12C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005105454] Chr2:50925926 [GRCh38]
Chr2:51153064 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1130G>A (p.Arg377His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005146663] Chr2:50623318 [GRCh38]
Chr2:50850456 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.832G>T (p.Gly278Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005171898] Chr2:50921869 [GRCh38]
Chr2:51149007 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.1562A>G (p.His521Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005064622] Chr2:50552784 [GRCh38]
Chr2:50779922 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.773-4T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005146411] Chr2:50925959 [GRCh38]
Chr2:51153097 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2418T>C (p.Asp806=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005174823] Chr2:50506574 [GRCh38]
Chr2:50733712 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4032A>G (p.Gln1344=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005105770] Chr2:50053367 [GRCh38]
Chr2:50280505 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.509C>T (p.Thr170Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005145122] Chr2:51027765 [GRCh38]
Chr2:51254903 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3904T>C (p.Tyr1302His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005195094] Chr2:50053495 [GRCh38]
Chr2:50280633 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3364+7A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005149835] Chr2:50465435 [GRCh38]
Chr2:50692573 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4472C>G (p.Ala1491Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005116761] Chr2:49921996 [GRCh38]
Chr2:50149134 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2375-18G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005179041] Chr2:50506635 [GRCh38]
Chr2:50733773 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3071-20A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005115391] Chr2:50472491 [GRCh38]
Chr2:50699629 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3554G>A (p.Gly1185Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005117646] Chr2:50091487 [GRCh38]
Chr2:50318625 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2164G>A (p.Asp722Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005117653] Chr2:50531410 [GRCh38]
Chr2:50758548 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2711C>G (p.Ala904Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005119029] Chr2:50497501 [GRCh38]
Chr2:50724639 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3370A>C (p.Thr1124Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005115468] Chr2:50236965 [GRCh38]
Chr2:50464103 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1320+9C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005179495] Chr2:50620013 [GRCh38]
Chr2:50847151 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4025C>G (p.Ala1342Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005158310] Chr2:50053374 [GRCh38]
Chr2:50280512 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3765A>G (p.Pro1255=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005164534] Chr2:50054998 [GRCh38]
Chr2:50282136 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3309T>C (p.Asp1103=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005131715] Chr2:50465497 [GRCh38]
Chr2:50692635 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.714C>G (p.Asp238Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005080415] Chr2:51027560 [GRCh38]
Chr2:51254698 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1272C>A (p.Asp424Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005122765] Chr2:50620070 [GRCh38]
Chr2:50847208 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3418C>G (p.Pro1140Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005131899] Chr2:50236917 [GRCh38]
Chr2:50464055 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1890G>A (p.Glu630=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005187231] Chr2:50538506 [GRCh38]
Chr2:50765644 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1540A>G (p.Asn514Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005198622] Chr2:50552806 [GRCh38]
Chr2:50779944 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.489C>G (p.Arg163=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005070826] Chr2:51027785 [GRCh38]
Chr2:51254923 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.737C>G (p.Ser246Trp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005136314] Chr2:51027537 [GRCh38]
Chr2:51254675 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4129-14T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005071510] Chr2:49943805 [GRCh38]
Chr2:50170943 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3611A>G (p.Asn1204Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005111225] Chr2:50091430 [GRCh38]
Chr2:50318568 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3956C>G (p.Ala1319Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005186189] Chr2:50053443 [GRCh38]
Chr2:50280581 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.705C>T (p.Ser235=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005187579] Chr2:51027569 [GRCh38]
Chr2:51254707 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.558C>A (p.Asp186Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005083234] Chr2:51027716 [GRCh38]
Chr2:51254854 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2596_2598del (p.Ile866del) deletion Pitt-Hopkins-like syndrome 2 [RCV005192395] Chr2:50497614..50497616 [GRCh38]
Chr2:50724752..50724754 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4068G>T (p.Thr1356=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005165655] Chr2:50053331 [GRCh38]
Chr2:50280469 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.832+8A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005189072] Chr2:50921861 [GRCh38]
Chr2:51148999 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.15G>C (p.Leu5=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005120010] Chr2:51028259 [GRCh38]
Chr2:51255397 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2347+20del deletion Pitt-Hopkins-like syndrome 2 [RCV005155624] Chr2:50531207 [GRCh38]
Chr2:50758345 [GRCh37]
Chr2:2p16.3		 benign
NM_001330078.2(NRXN1):c.663G>T (p.Glu221Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005197320] Chr2:51027611 [GRCh38]
Chr2:51254749 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1381C>T (p.Pro461Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005206388] Chr2:50552965 [GRCh38]
Chr2:50780103 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.313G>C (p.Ala105Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005160710] Chr2:51027961 [GRCh38]
Chr2:51255099 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.648G>C (p.Pro216=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005129626] Chr2:51027626 [GRCh38]
Chr2:51254764 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1461A>C (p.Pro487=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005133163] Chr2:50552885 [GRCh38]
Chr2:50780023 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3559A>G (p.Ile1187Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005163536] Chr2:50091482 [GRCh38]
Chr2:50318620 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3736C>A (p.Arg1246Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005138681] Chr2:50055027 [GRCh38]
Chr2:50282165 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2677C>G (p.Leu893Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005198149] Chr2:50497535 [GRCh38]
Chr2:50724673 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.706G>T (p.Val236Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005125572] Chr2:51027568 [GRCh38]
Chr2:51254706 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2595C>A (p.Phe865Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005081879] Chr2:50497617 [GRCh38]
Chr2:50724755 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.855G>T (p.Thr285=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005108756] Chr2:50623593 [GRCh38]
Chr2:50850731 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2644C>T (p.Leu882=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005108774] Chr2:50497568 [GRCh38]
Chr2:50724706 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3743C>A (p.Ala1248Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005168759] Chr2:50055020 [GRCh38]
Chr2:50282158 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3245-5T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005153776] Chr2:50465566 [GRCh38]
Chr2:50692704 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2217T>C (p.Ala739=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003838986] Chr2:50531357 [GRCh38]
Chr2:50758495 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2372C>T (p.Ser791Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620575] Chr2:50528627 [GRCh38]
Chr2:50755765 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2881T>C (p.Tyr961His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620578] Chr2:50496094 [GRCh38]
Chr2:50723232 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.377C>G (p.Thr126Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620033] Chr2:51027897 [GRCh38]
Chr2:51255035 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.637G>T (p.Gly213Trp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003620454] Chr2:51027637 [GRCh38]
Chr2:51254775 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1449C>T (p.Thr483=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003846558] Chr2:50552897 [GRCh38]
Chr2:50780035 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3738C>T (p.Arg1246=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621347] Chr2:50055025 [GRCh38]
Chr2:50282163 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3864G>C (p.Glu1288Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621371] Chr2:50053535 [GRCh38]
Chr2:50280673 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3657G>A (p.Arg1219=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621416] Chr2:50091384 [GRCh38]
Chr2:50318522 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3037A>G (p.Ile1013Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621036] Chr2:50495938 [GRCh38]
Chr2:50723076 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3071-13G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003819904] Chr2:50472484 [GRCh38]
Chr2:50699622 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3364+19_3364+20delinsGC indel Pitt-Hopkins-like syndrome 2 [RCV003820035] Chr2:50465422..50465423 [GRCh38]
Chr2:50692560..50692561 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4110A>G (p.Thr1370=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003853881] Chr2:50053289 [GRCh38]
Chr2:50280427 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1967T>C (p.Ile656Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003859506] Chr2:50538429 [GRCh38]
Chr2:50765567 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1153G>T (p.Ala385Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003621473] Chr2:50621231 [GRCh38]
Chr2:50848369 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3365-109885C>G single nucleotide variant not provided [RCV003993293] Chr2:50346855 [GRCh38]
Chr2:50573993 [GRCh37]
Chr2:2p16.3		 uncertain significance
GRCh37/hg19 2p16.3(chr2:51058325-51352282)x1 copy number loss not provided [RCV004442833] Chr2:51058325..51352282 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.4070C>G (p.Thr1357Ser) single nucleotide variant Chromosome 2p16.3 deletion syndrome [RCV003991851] Chr2:50053329 [GRCh38]
Chr2:50280467 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3000C>T (p.Leu1000=) single nucleotide variant NRXN1-related disorder [RCV004542438] Chr2:50495975 [GRCh38]
Chr2:50723113 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.763dup (p.Cys255fs) duplication Pitt-Hopkins-like syndrome 2 [RCV004527035] Chr2:51027510..51027511 [GRCh38]
Chr2:51254648..51254649 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.3443G>A (p.Arg1148Gln) single nucleotide variant not provided [RCV003887390] Chr2:50236892 [GRCh38]
Chr2:50464030 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2817T>G (p.Asp939Glu) single nucleotide variant Inborn genetic diseases [RCV004493643]|Pitt-Hopkins-like syndrome 2 [RCV005104804] Chr2:50497395 [GRCh38]
Chr2:50724533 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.358C>T (p.Arg120Cys) single nucleotide variant Inborn genetic diseases [RCV004493645] Chr2:51027916 [GRCh38]
Chr2:51255054 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4459C>A (p.Gln1487Lys) single nucleotide variant Inborn genetic diseases [RCV004493648] Chr2:49922009 [GRCh38]
Chr2:50149147 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1075A>T single nucleotide variant Inborn genetic diseases [RCV004493651] Chr2:51026427 [GRCh38]
Chr2:51253565 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2509G>A (p.Gly837Ser) single nucleotide variant Inborn genetic diseases [RCV004493638] Chr2:50497703 [GRCh38]
Chr2:50724841 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3429C>G (p.Asp1143Glu) single nucleotide variant Inborn genetic diseases [RCV004493644] Chr2:50236906 [GRCh38]
Chr2:50464044 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4339A>G (p.Ile1447Val) single nucleotide variant Inborn genetic diseases [RCV004493647] Chr2:49922129 [GRCh38]
Chr2:50149267 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.718C>A (p.Gln240Lys) single nucleotide variant Inborn genetic diseases [RCV004493649] Chr2:51027556 [GRCh38]
Chr2:51254694 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1968C>G (p.Ile656Met) single nucleotide variant Inborn genetic diseases [RCV004493636] Chr2:50538428 [GRCh38]
Chr2:50765566 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2632G>C (p.Ala878Pro) single nucleotide variant Inborn genetic diseases [RCV004493642] Chr2:50497580 [GRCh38]
Chr2:50724718 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2579C>T (p.Ser860Phe) single nucleotide variant Inborn genetic diseases [RCV004493641]|Pitt-Hopkins-like syndrome 2 [RCV005104803] Chr2:50497633 [GRCh38]
Chr2:50724771 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.404C>T (p.Ala135Val) single nucleotide variant Inborn genetic diseases [RCV004493646] Chr2:51027870 [GRCh38]
Chr2:51255008 [GRCh37]
Chr2:2p16.3		 uncertain significance
NC_000002.11:g.(?_50318441)_(50318652_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV004583662] Chr2:50318441..50318652 [GRCh37]
Chr2:2p16.3		 pathogenic
NC_000002.11:g.(?_50280399)_(50464118_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV004583663] Chr2:50280399..50464118 [GRCh37]
Chr2:2p16.3		 pathogenic
NC_000002.11:g.(?_50692560)_(51153113_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV004583666] Chr2:50692560..51153113 [GRCh37]
Chr2:2p16.3		 pathogenic
NC_000002.11:g.(?_51148997)_(51153103_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV004583667] Chr2:51148997..51153103 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.1838T>G (p.Leu613Trp) single nucleotide variant Inborn genetic diseases [RCV004638721] Chr2:50538558 [GRCh38]
Chr2:50765696 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2812C>G (p.Leu938Val) single nucleotide variant Inborn genetic diseases [RCV004650477] Chr2:50497400 [GRCh38]
Chr2:50724538 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3205G>T (p.Ala1069Ser) single nucleotide variant not provided [RCV004770720] Chr2:50472337 [GRCh38]
Chr2:50699475 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.175A>T (p.Lys59Ter) single nucleotide variant not provided [RCV004721909] Chr2:51028099 [GRCh38]
Chr2:51255237 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.1666A>G (p.Met556Val) single nucleotide variant not provided [RCV004769727] Chr2:50552680 [GRCh38]
Chr2:50779818 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4051A>C (p.Ile1351Leu) single nucleotide variant not provided [RCV004767843] Chr2:50053348 [GRCh38]
Chr2:50280486 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2514T>G (p.Asp838Glu) single nucleotide variant not provided [RCV004771264] Chr2:50497698 [GRCh38]
Chr2:50724836 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.-922+1G>A single nucleotide variant not provided [RCV004773617] Chr2:51031980 [GRCh38]
Chr2:51259118 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1643G>A (p.Gly548Asp) single nucleotide variant not provided [RCV004769904] Chr2:50552703 [GRCh38]
Chr2:50779841 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3889C>T (p.Leu1297Phe) single nucleotide variant Inborn genetic diseases [RCV004954045] Chr2:50053510 [GRCh38]
Chr2:50280648 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.504G>C (p.Lys168Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005026622] Chr2:51027770 [GRCh38]
Chr2:51254908 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.413T>A (p.Val138Glu) single nucleotide variant Inborn genetic diseases [RCV004954039] Chr2:51027861 [GRCh38]
Chr2:51254999 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1411T>A (p.Phe471Ile) single nucleotide variant Inborn genetic diseases [RCV004954041] Chr2:50552935 [GRCh38]
Chr2:50780073 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4398C>A (p.Asp1466Glu) single nucleotide variant Inborn genetic diseases [RCV004954042] Chr2:49922070 [GRCh38]
Chr2:50149208 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1286_1296del (p.Pro429fs) deletion Inborn genetic diseases [RCV004954040] Chr2:50620046..50620056 [GRCh38]
Chr2:50847184..50847194 [GRCh37]
Chr2:2p16.3		 pathogenic
GRCh37/hg19 2p16.3(chr2:50932821-51289587)x1 copy number loss not provided [RCV004819331] Chr2:50932821..51289587 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.1170A>T (p.Ser390=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005085901] Chr2:50620172 [GRCh38]
Chr2:50847310 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2211G>C (p.Thr737=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005144961] Chr2:50531363 [GRCh38]
Chr2:50758501 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3732C>T (p.Asn1244=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005197644] Chr2:50055031 [GRCh38]
Chr2:50282169 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1795A>G (p.Thr599Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005148832] Chr2:50538601 [GRCh38]
Chr2:50765739 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2268G>T (p.Met756Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005202266] Chr2:50531306 [GRCh38]
Chr2:50758444 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2675A>G (p.Glu892Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005138536] Chr2:50497537 [GRCh38]
Chr2:50724675 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.773-12A>G single nucleotide variant not provided [RCV005236105] Chr2:50925967 [GRCh38]
Chr2:51153105 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1159-7T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005125196] Chr2:50620190 [GRCh38]
Chr2:50847328 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2374+1G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005206902] Chr2:50528624 [GRCh38]
Chr2:50755762 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.3808+9C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005082308] Chr2:50054946 [GRCh38]
Chr2:50282084 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1140A>G (p.Ser380=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005168870] Chr2:50621244 [GRCh38]
Chr2:50848382 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1108A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005193973] Chr2:51026394 [GRCh38]
Chr2:51253532 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1335T>C (p.Asn445=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005119535] Chr2:50553011 [GRCh38]
Chr2:50780149 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3885C>T (p.Gly1295=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005168997] Chr2:50053514 [GRCh38]
Chr2:50280652 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1536G>C (p.Glu512Asp) single nucleotide variant not provided [RCV005241962] Chr2:50552810 [GRCh38]
Chr2:50779948 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1759+11C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005169326] Chr2:50552576 [GRCh38]
Chr2:50779714 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.773-12A>T single nucleotide variant not provided [RCV005242002] Chr2:50925967 [GRCh38]
Chr2:51153105 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3887A>T (p.Gln1296Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005189152] Chr2:50053512 [GRCh38]
Chr2:50280650 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1143G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005140464] Chr2:51026359 [GRCh38]
Chr2:51253497 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1278A>G (p.Pro426=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005148257] Chr2:50620064 [GRCh38]
Chr2:50847202 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4426G>C (p.Ala1476Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005081110] Chr2:49922042 [GRCh38]
Chr2:50149180 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2488G>A (p.Ala830Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005136682] Chr2:50506504 [GRCh38]
Chr2:50733642 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1862A>C (p.Asn621Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005138709] Chr2:50538534 [GRCh38]
Chr2:50765672 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2410C>G (p.Leu804Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005108260] Chr2:50506582 [GRCh38]
Chr2:50733720 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1759+5T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005204684] Chr2:50552582 [GRCh38]
Chr2:50779720 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3547-7C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005119186] Chr2:50091501 [GRCh38]
Chr2:50318639 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1142_772+1143insAGTT insertion Pitt-Hopkins-like syndrome 2 [RCV005121758] Chr2:51026359..51026360 [GRCh38]
Chr2:51253497..51253498 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4473G>T (p.Ala1491=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005117315] Chr2:49921995 [GRCh38]
Chr2:50149133 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3043G>T (p.Ala1015Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005148995] Chr2:50495932 [GRCh38]
Chr2:50723070 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4093A>C (p.Arg1365=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005181814] Chr2:50053306 [GRCh38]
Chr2:50280444 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3872A>T (p.Gln1291Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005127734] Chr2:50053527 [GRCh38]
Chr2:50280665 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1847G>T (p.Gly616Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005123427] Chr2:50538549 [GRCh38]
Chr2:50765687 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4217-19C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005132299] Chr2:49922270 [GRCh38]
Chr2:50149408 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3324C>T (p.Asp1108=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005163000] Chr2:50465482 [GRCh38]
Chr2:50692620 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.63G>C (p.Leu21=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005193057] Chr2:51028211 [GRCh38]
Chr2:51255349 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.349G>A (p.Val117Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005084313] Chr2:51027925 [GRCh38]
Chr2:51255063 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1135-1G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005139177] Chr2:50621250 [GRCh38]
Chr2:50848388 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.2347+4A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005194226] Chr2:50531223 [GRCh38]
Chr2:50758361 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.821-13A>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005165835] Chr2:50921893 [GRCh38]
Chr2:51149031 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4296T>C (p.Gly1432=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005187393] Chr2:49922172 [GRCh38]
Chr2:50149310 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4011G>T (p.Glu1337Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005158717] Chr2:50053388 [GRCh38]
Chr2:50280526 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4171G>A (p.Asp1391Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005191470] Chr2:49943749 [GRCh38]
Chr2:50170887 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.94G>C (p.Glu32Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005203578] Chr2:51028180 [GRCh38]
Chr2:51255318 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2418T>A (p.Asp806Glu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005136327] Chr2:50506574 [GRCh38]
Chr2:50733712 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.479C>A (p.Pro160Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005139329] Chr2:51027795 [GRCh38]
Chr2:51254933 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1161G>A (p.Val387=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005165100] Chr2:50620181 [GRCh38]
Chr2:50847319 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1044A>C (p.Ser348=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005118715] Chr2:50623404 [GRCh38]
Chr2:50850542 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3244+9T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005131230] Chr2:50472289 [GRCh38]
Chr2:50699427 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3744G>A (p.Ala1248=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005131429] Chr2:50055019 [GRCh38]
Chr2:50282157 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.995A>G (p.Asn332Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005159173] Chr2:50623453 [GRCh38]
Chr2:50850591 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3295T>C (p.Leu1099=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005188270] Chr2:50465511 [GRCh38]
Chr2:50692649 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1193C>T (p.Thr398Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005131431] Chr2:50620149 [GRCh38]
Chr2:50847287 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1410A>G (p.Ala470=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005188066] Chr2:50552936 [GRCh38]
Chr2:50780074 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3490G>C (p.Val1164Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005189289] Chr2:50236845 [GRCh38]
Chr2:50463983 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2471C>G (p.Thr824Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005081523] Chr2:50506521 [GRCh38]
Chr2:50733659 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.530G>T (p.Arg177Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005140466] Chr2:51027744 [GRCh38]
Chr2:51254882 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.754G>A (p.Gly252Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005121605] Chr2:51027520 [GRCh38]
Chr2:51254658 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1941G>A (p.Leu647=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005204231] Chr2:50538455 [GRCh38]
Chr2:50765593 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.520G>A (p.Val174Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005125812] Chr2:51027754 [GRCh38]
Chr2:51254892 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2790T>C (p.Phe930=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005180081] Chr2:50497422 [GRCh38]
Chr2:50724560 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4042T>G (p.Ser1348Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005116073] Chr2:50053357 [GRCh38]
Chr2:50280495 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.996T>C (p.Asn332=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005116085] Chr2:50623452 [GRCh38]
Chr2:50850590 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1320+3A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005129510] Chr2:50620019 [GRCh38]
Chr2:50847157 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3843C>T (p.Thr1281=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005156696] Chr2:50053556 [GRCh38]
Chr2:50280694 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3547-16C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005123871] Chr2:50091510 [GRCh38]
Chr2:50318648 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.465C>G (p.Val155=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005071489] Chr2:51027809 [GRCh38]
Chr2:51254947 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.876C>G (p.Phe292Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005184718] Chr2:50623572 [GRCh38]
Chr2:50850710 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2945C>G (p.Pro982Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005202179] Chr2:50496030 [GRCh38]
Chr2:50723168 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2841G>T (p.Gly947=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005128588] Chr2:50497371 [GRCh38]
Chr2:50724509 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.634G>T (p.Gly212Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005128586] Chr2:51027640 [GRCh38]
Chr2:51254778 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.791-20_791-19del microsatellite Pitt-Hopkins-like syndrome 2 [RCV005123007] Chr2:50922706..50922707 [GRCh38]
Chr2:51149844..51149845 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3321T>C (p.Cys1107=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005150818] Chr2:50465485 [GRCh38]
Chr2:50692623 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2498-19A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005182779] Chr2:50497733 [GRCh38]
Chr2:50724871 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.772+1125A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005156313] Chr2:51026377 [GRCh38]
Chr2:51253515 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4457AAC[1] (p.Gln1487del) microsatellite Pitt-Hopkins-like syndrome 2 [RCV005113701] Chr2:49922006..49922008 [GRCh38]
Chr2:50149144..50149146 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.506T>G (p.Leu169Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005204753] Chr2:51027768 [GRCh38]
Chr2:51254906 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1043C>T (p.Ser348Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005131131] Chr2:50623405 [GRCh38]
Chr2:50850543 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.412G>C (p.Val138Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005111403] Chr2:51027862 [GRCh38]
Chr2:51255000 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1100T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005108908] Chr2:51026402 [GRCh38]
Chr2:51253540 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.4241G>A (p.Arg1414Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005148852] Chr2:49922227 [GRCh38]
Chr2:50149365 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.41T>C (p.Leu14Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005075161] Chr2:51028233 [GRCh38]
Chr2:51255371 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4135G>C (p.Asp1379His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005124069] Chr2:49943785 [GRCh38]
Chr2:50170923 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4187A>C (p.Asp1396Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005126607] Chr2:49943733 [GRCh38]
Chr2:50170871 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1144A>G (p.Ile382Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005130841] Chr2:50621240 [GRCh38]
Chr2:50848378 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4065C>A (p.Thr1355=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005201596] Chr2:50053334 [GRCh38]
Chr2:50280472 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1868C>T (p.Ala623Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005129060] Chr2:50538528 [GRCh38]
Chr2:50765666 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3431G>A (p.Arg1144Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005155786] Chr2:50236904 [GRCh38]
Chr2:50464042 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3718+12A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005176483] Chr2:50091311 [GRCh38]
Chr2:50318449 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1403T>G (p.Val468Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005150339] Chr2:50552943 [GRCh38]
Chr2:50780081 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2427G>A (p.Trp809Ter) single nucleotide variant Inborn genetic diseases [RCV005379529] Chr2:50506565 [GRCh38]
Chr2:50733703 [GRCh37]
Chr2:2p16.3		 pathogenic
NM_001330078.2(NRXN1):c.494C>T (p.Ala165Val) single nucleotide variant Inborn genetic diseases [RCV005379527] Chr2:51027780 [GRCh38]
Chr2:51254918 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3080A>T (p.Tyr1027Phe) single nucleotide variant not provided [RCV005255136] Chr2:50472462 [GRCh38]
Chr2:50699600 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.772+1111C>G single nucleotide variant Inborn genetic diseases [RCV005387833] Chr2:51026391 [GRCh38]
Chr2:51253529 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2709A>G (p.Ile903Met) single nucleotide variant not provided [RCV005417218] Chr2:50497503 [GRCh38]
Chr2:50724641 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3795G>A (p.Trp1265Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005411157] Chr2:50054968 [GRCh38]
Chr2:50282106 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.136T>C (p.Trp46Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005412235] Chr2:51028138 [GRCh38]
Chr2:51255276 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3251G>A (p.Ser1084Asn) single nucleotide variant Inborn genetic diseases [RCV005379530] Chr2:50465555 [GRCh38]
Chr2:50692693 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2193C>A (p.Leu731=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005201654] Chr2:50531381 [GRCh38]
Chr2:50758519 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.2375-9A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005182200] Chr2:50506626 [GRCh38]
Chr2:50733764 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.3738C>A (p.Arg1246=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005130229] Chr2:50055025 [GRCh38]
Chr2:50282163 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.1915G>A (p.Gly639Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005198830] Chr2:50538481 [GRCh38]
Chr2:50765619 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.1376G>T (p.Gly459Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005139265] Chr2:50552970 [GRCh38]
Chr2:50780108 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.3127G>A (p.Val1043Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005182506] Chr2:50472415 [GRCh38]
Chr2:50699553 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.4189C>T (p.Pro1397Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005130693] Chr2:49943731 [GRCh38]
Chr2:50170869 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.883G>A (p.Asp295Asn) single nucleotide variant Inborn genetic diseases [RCV005379800]|Pitt-Hopkins-like syndrome 2 [RCV005183826] Chr2:50623565 [GRCh38]
Chr2:50850703 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2017T>C (p.Ser673Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005114972] Chr2:50538379 [GRCh38]
Chr2:50765517 [GRCh37]
Chr2:2p16.3		 uncertain significance
NM_001330078.2(NRXN1):c.2375-6C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005128119] Chr2:50506623 [GRCh38]
Chr2:50733761 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.843A>G (p.Glu281=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV005113236] Chr2:50623605 [GRCh38]
Chr2:50850743 [GRCh37]
Chr2:2p16.3		 likely benign
NM_001330078.2(NRXN1):c.793_794del (p.Leu265fs) deletion Pitt-Hopkins-like syndrome 2 [RCV005400063] Chr2:50922684..50922685 [GRCh38]
Chr2:51149822..51149823 [GRCh37]
Chr2:2p16.3		 likely pathogenic
NM_001330078.2(NRXN1):c.314C>T (p.Ala105Val) single nucleotide variant Inborn genetic diseases [RCV005379531] Chr2:51027960 [GRCh38]
Chr2:51255098 [GRCh37]
Chr2:2p16.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:6064
Count of miRNA genes:1211
Interacting mature miRNAs:1536
Transcripts:ENST00000331040, ENST00000342183, ENST00000378262, ENST00000401669, ENST00000401710, ENST00000402717, ENST00000404971, ENST00000405472, ENST00000405581, ENST00000406316, ENST00000406859, ENST00000412315, ENST00000462791, ENST00000474354, ENST00000484192, ENST00000495871, ENST00000496792
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597303707GWAS1399781_Hbody mass index QTL GWAS1399781 (human)7e-13body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)24997397249973973Human
597173659GWAS1269733_Heosinophilic esophagitis QTL GWAS1269733 (human)0.000007eosinophilic esophagitis25045741650457417Human
597215387GWAS1311461_Hsmoking status measurement QTL GWAS1311461 (human)2e-10smoking status measurement25046977750469778Human
407258435GWAS907411_Hbody mass index QTL GWAS907411 (human)1e-08body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25062973250629733Human
597303708GWAS1399782_Hbody mass index QTL GWAS1399782 (human)4e-09body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25050886050508861Human
597114783GWAS1210857_Hsystolic blood pressure QTL GWAS1210857 (human)1e-08arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)25020272350202724Human
596958873GWAS1078392_Hmetabolic syndrome QTL GWAS1078392 (human)2e-17metabolic syndrome25000512850005129Human
597333143GWAS1429217_HRS-6-hydroxywarfarin measurement QTL GWAS1429217 (human)0.000005RS-6-hydroxywarfarin measurement25032702850327029Human
597028251GWAS1124325_Hbody mass index QTL GWAS1124325 (human)2e-19body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25000621450006215Human
596958874GWAS1078393_Hmetabolic syndrome QTL GWAS1078393 (human)3e-11metabolic syndrome25010935550109356Human
596958875GWAS1078394_Hmetabolic syndrome QTL GWAS1078394 (human)4e-12metabolic syndrome25035371450353715Human
597255062GWAS1351136_Hage at first sexual intercourse measurement QTL GWAS1351136 (human)2e-10sexual interaction trait (VT:0002566)25045987550459876Human
597194638GWAS1290712_Hsystolic blood pressure QTL GWAS1290712 (human)3e-08arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)25020272350202724Human
597172096GWAS1268170_Hbody mass index QTL GWAS1268170 (human)2e-09body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25096672150966722Human
597333894GWAS1429968_Hsmoking cessation QTL GWAS1429968 (human)8e-10smoking cessation25000499550004996Human
597115275GWAS1211349_Hself reported educational attainment QTL GWAS1211349 (human)1e-09self reported educational attainment25097573850975739Human
597115274GWAS1211348_Hself reported educational attainment QTL GWAS1211348 (human)5e-16self reported educational attainment25076711750767118Human
597115273GWAS1211347_Hself reported educational attainment QTL GWAS1211347 (human)2e-08self reported educational attainment25041875250418753Human
596951179GWAS1070698_Hdementia QTL GWAS1070698 (human)0.000004dementia25029368650293687Human
597094025GWAS1190099_HFEV change measurement, trait in response to zileuton QTL GWAS1190099 (human)0.000004FEV change measurement, trait in response to zileutonrespiratory system measurement (CMO:0000094)25090966450909665Human
597029813GWAS1125887_Hself reported educational attainment QTL GWAS1125887 (human)3e-09self reported educational attainment25043189350431894Human
597056182GWAS1152256_Hintelligence QTL GWAS1152256 (human)4e-08intelligence25102336751023368Human
597029814GWAS1125888_Hself reported educational attainment QTL GWAS1125888 (human)5e-08self reported educational attainment25085334350853344Human
597240253GWAS1336327_Htestosterone measurement QTL GWAS1336327 (human)3e-09blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)25087658050876581Human
597278640GWAS1374714_Hrisk-taking behaviour QTL GWAS1374714 (human)5e-08exploratory behavior trait (VT:0010471)25050880550508806Human
597104826GWAS1200900_Hschizophrenia, intelligence, self reported educational attainment QTL GWAS1200900 (human)2e-08schizophrenia, intelligence, self reported educational attainment25085561650855617Human
597106616GWAS1202690_Hcaudate volume change measurement, age at assessment QTL GWAS1202690 (human)0.000009caudate volume change measurement, age at assessment25098484450984845Human
596958884GWAS1078403_Hmetabolic syndrome QTL GWAS1078403 (human)1e-08metabolic syndrome25063819650638197Human
597169834GWAS1265908_Hbody weight QTL GWAS1265908 (human)1e-08body mass (VT:0001259)body weight (CMO:0000012)25080065950800660Human
596958880GWAS1078399_Hmetabolic syndrome QTL GWAS1078399 (human)2e-16metabolic syndrome25046580250465803Human
597036195GWAS1132269_Htriglyceride measurement QTL GWAS1132269 (human)9e-09triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)25048887850488879Human
407145843GWAS794819_Hnicotine use, generational effect measurement, illegal drug consumption, non-substance related disinhibited behaviour, alcohol drinking, alcohol dependence QTL GWAS794819 (human)0.0000004behavior trait (VT:0010442)24995725649957257Human
597211823GWAS1307897_HAlzheimer disease, Cognitive impairment QTL GWAS1307897 (human)0.000002Alzheimer disease, Cognitive impairment25066295850662959Human
407059835GWAS708811_Hpersonality trait QTL GWAS708811 (human)0.000009behavior trait (VT:0010442)25051763650517637Human
597213089GWAS1309163_Hprotein measurement QTL GWAS1309163 (human)3e-10protein amount (VT:0010120)25038212250382123Human
597326499GWAS1422573_Hpain QTL GWAS1422573 (human)2e-08pain threshold (VT:0001970)25076390150763902Human
597104085GWAS1200159_Hreading QTL GWAS1200159 (human)0.000007cognitive behavior trait (VT:0010450)25076981450769815Human
597225437GWAS1321511_Hchronotype measurement QTL GWAS1321511 (human)3e-17sleep behavior trait (VT:0001501)25030570250305703Human
597314271GWAS1410345_Htriglyceride measurement QTL GWAS1410345 (human)1e-08triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)25048849350488494Human
596957660GWAS1077179_Hisolated dystonia QTL GWAS1077179 (human)0.0000003isolated dystonia25040094050400941Human
597258448GWAS1354522_Hinsomnia QTL GWAS1354522 (human)3e-09sleep behavior trait (VT:0001501)24999713049997131Human
597224658GWAS1320732_Hage at first sexual intercourse measurement QTL GWAS1320732 (human)1e-10sexual interaction trait (VT:0002566)25037544950375450Human
407162638GWAS811614_HFEV/FVC ratio, response to bronchodilator QTL GWAS811614 (human)0.0000002lung capacity (VT:0001942)forced expiratory volume to forced vital capacity ratio (CMO:0000241)25069998150699982Human
597234391GWAS1330465_Hmajor depressive disorder QTL GWAS1330465 (human)0.000005major depressive disorder25086836450868365Human
597121497GWAS1217571_Hself reported educational attainment QTL GWAS1217571 (human)5e-16self reported educational attainment25102336751023368Human
597121496GWAS1217570_Hself reported educational attainment QTL GWAS1217570 (human)2e-10self reported educational attainment25079246350792464Human
596987077GWAS1106596_Hbody mass index QTL GWAS1106596 (human)4e-09body mass index25050886050508861Human
597267913GWAS1363987_Hbody mass index QTL GWAS1363987 (human)4e-08body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25099671050996711Human
596987076GWAS1106595_Hbody mass index QTL GWAS1106595 (human)7e-13body mass index24997397249973973Human
597227722GWAS1323796_Hchronotype measurement QTL GWAS1323796 (human)6e-16sleep behavior trait (VT:0001501)25003326850033269Human
596969927GWAS1089446_Hmajor depressive disorder QTL GWAS1089446 (human)3e-08major depressive disorder25086836450868365Human
597056453GWAS1152527_Hintelligence QTL GWAS1152527 (human)5e-08intelligence25087190550871906Human
597145539GWAS1241613_Hinternet addiction disorder QTL GWAS1241613 (human)3e-08behavior trait (VT:0010442)25101513251015133Human
597227725GWAS1323799_Hchronotype measurement QTL GWAS1323799 (human)2e-14sleep behavior trait (VT:0001501)25020341550203416Human
597145280GWAS1241354_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS1241354 (human)0.000008severe acute respiratory syndrome, COVID-1925003923650039237Human
596977358GWAS1096877_Hbody mass index QTL GWAS1096877 (human)6e-12body mass index25051488750514888Human
597329349GWAS1425423_Hresponse to angiotensin-converting enzyme inhibitor QTL GWAS1425423 (human)0.000004response to angiotensin-converting enzyme inhibitor25047283350472834Human
597057271GWAS1153345_Hchronotype measurement QTL GWAS1153345 (human)6e-10sleep behavior trait (VT:0001501)25023334250233343Human
597171194GWAS1267268_Hbody mass index QTL GWAS1267268 (human)8e-19body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25000621450006215Human
597154037GWAS1250111_Hradiation-induced disorder QTL GWAS1250111 (human)0.000005radiation-induced disorder25038549450385495Human
407050529GWAS699505_Htriacylglycerol 58:10 measurement QTL GWAS699505 (human)0.000003blood triglyceride amount (VT:0002644)25059033250590333Human
407056161GWAS705137_Hnicotine dependence symptom count QTL GWAS705137 (human)0.0000001response to nicotine trait (VT:0010721)25083261550832616Human
597122291GWAS1218365_Hisolated dystonia QTL GWAS1218365 (human)0.0000003isolated dystonia25040094050400941Human
597171198GWAS1267272_Hbody mass index QTL GWAS1267272 (human)4e-09body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25007584050075841Human
597333501GWAS1429575_Hdyslexia QTL GWAS1429575 (human)0.0000002cognitive behavior trait (VT:0010450)25029360550293606Human
597171199GWAS1267273_Hbody mass index QTL GWAS1267273 (human)3e-15body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25046503050465031Human
597246963GWAS1343037_Hdrug dependence QTL GWAS1343037 (human)0.000007drug dependence25031845150318452Human
597309936GWAS1406010_Hbody mass index QTL GWAS1406010 (human)4e-08body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25063540850635409Human
597615605GWAS1672465_Hglomerulonephritis QTL GWAS1672465 (human)4e-12glomerulonephritis25005022150050222Human
597225462GWAS1321536_Hsmoking status measurement QTL GWAS1321536 (human)7e-09smoking status measurement25050880550508806Human
407018290GWAS667266_Hbody mass index QTL GWAS667266 (human)2e-16body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)24999085749990858Human
597095398GWAS1191472_H3-hydroxy-1-methylpropylmercapturic acid measurement QTL GWAS1191472 (human)9e-083-hydroxy-1-methylpropylmercapturic acid measurement25052161750521618Human
597050086GWAS1146160_Hmetabolic syndrome QTL GWAS1146160 (human)1e-08metabolic syndrome25063819650638197Human
407018291GWAS667267_Hbody mass index QTL GWAS667267 (human)1e-12body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25046503050465031Human
597050084GWAS1146158_Hmetabolic syndrome QTL GWAS1146158 (human)4e-12metabolic syndrome25035371450353715Human
597050085GWAS1146159_Hmetabolic syndrome QTL GWAS1146159 (human)2e-16metabolic syndrome25046580250465803Human
407061040GWAS710016_Htemperament and character inventory QTL GWAS710016 (human)0.000001behavior trait (VT:0010442)25050418050504181Human
597050082GWAS1146156_Hmetabolic syndrome QTL GWAS1146156 (human)2e-17metabolic syndrome25000512850005129Human
407018294GWAS667270_Hbody mass index QTL GWAS667270 (human)1e-08body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25001413050014131Human
597325806GWAS1421880_Hbody mass index QTL GWAS1421880 (human)9e-14body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25046503050465031Human
597050083GWAS1146157_Hmetabolic syndrome QTL GWAS1146157 (human)3e-11metabolic syndrome25010935550109356Human
407018295GWAS667271_Hbody mass index QTL GWAS667271 (human)3e-08body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25035371450353715Human
597325807GWAS1421881_Hbody mass index QTL GWAS1421881 (human)8e-09body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25060854650608547Human
407018292GWAS667268_Hbody mass index QTL GWAS667268 (human)2e-11body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25007006750070068Human
597146849GWAS1242923_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS1242923 (human)0.0000002severe acute respiratory syndrome, COVID-1925025235050252351Human
596968675GWAS1088194_Hbody mass index QTL GWAS1088194 (human)4e-08body mass index25063540850635409Human
597325805GWAS1421879_Hbody mass index QTL GWAS1421879 (human)1e-16body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25001472750014728Human
406894647GWAS543623_HHVA measurement, MHPG measurement QTL GWAS543623 (human)0.000004tissue homovanillic acid amount (VT:0010835)25053336550533366Human
597349091GWAS1445165_Hmyocardial infarction QTL GWAS1445165 (human)0.000004heart integrity trait (VT:0010757)25019539950195409Human
407059769GWAS708745_Hchronotype measurement QTL GWAS708745 (human)5e-08sleep behavior trait (VT:0001501)25048887850488879Human
407059768GWAS708744_Hchronotype measurement QTL GWAS708744 (human)7e-11sleep behavior trait (VT:0001501)25036946950369470Human
597281817GWAS1377891_Heducational attainment QTL GWAS1377891 (human)2e-09educational attainment25030880450308805Human
597281816GWAS1377890_Heducational attainment QTL GWAS1377890 (human)5e-10educational attainment25016426350164264Human
597281819GWAS1377893_Heducational attainment QTL GWAS1377893 (human)2e-18educational attainment25040343450403435Human
597281818GWAS1377892_Heducational attainment QTL GWAS1377892 (human)4e-09educational attainment25034769850347699Human
597205532GWAS1301606_Hprotein measurement QTL GWAS1301606 (human)5e-09protein amount (VT:0010120)25037347050373471Human
597281821GWAS1377895_Heducational attainment QTL GWAS1377895 (human)1e-10educational attainment25065616250656163Human
597281820GWAS1377894_Heducational attainment QTL GWAS1377894 (human)5e-18educational attainment25046846350468464Human
597281823GWAS1377897_Heducational attainment QTL GWAS1377897 (human)7e-19educational attainment25078270050782701Human
407357121GWAS1006097_Hunipolar depression QTL GWAS1006097 (human)3e-08unipolar depression25086836450868365Human
597281822GWAS1377896_Heducational attainment QTL GWAS1377896 (human)7e-09educational attainment25071037750710378Human
597214739GWAS1310813_Hpulse pressure measurement QTL GWAS1310813 (human)0.000008arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)25020272350202724Human
597277205GWAS1373279_HAlzheimer disease, polygenic risk score QTL GWAS1373279 (human)1e-08Alzheimer disease, polygenic risk score25012673250126733Human
597062427GWAS1158501_HGingival bleeding QTL GWAS1158501 (human)0.000004Gingival bleeding25046503050465031Human
597225749GWAS1321823_Hself reported educational attainment QTL GWAS1321823 (human)1e-16self reported educational attainment25079034050790341Human
597281815GWAS1377889_Heducational attainment QTL GWAS1377889 (human)2e-08educational attainment25014873350148734Human
597121305GWAS1217379_Hurate measurement QTL GWAS1217379 (human)5e-08urate measurementblood uric acid level (CMO:0000501)25046503050465031Human
597317653GWAS1413727_Hbody mass index QTL GWAS1413727 (human)2e-14body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)24997440949974410Human
597061126GWAS1157200_Hadolescent idiopathic scoliosis QTL GWAS1157200 (human)9e-12adolescent idiopathic scoliosis25097861150978612Human
597186058GWAS1282132_Hsmoking cessation QTL GWAS1282132 (human)3e-09smoking cessation25000499550004996Human
597147395GWAS1243469_Hbody mass index QTL GWAS1243469 (human)3e-08body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)24997397249973973Human
407114960GWAS763936_Hresponse to cisplatin, platinum measurement QTL GWAS763936 (human)0.000007response to cisplatin, platinum measurement25019361950193620Human
596970767GWAS1090286_Hdry eye syndrome QTL GWAS1090286 (human)0.000009dry eye syndrome25090966450909665Human
597075467GWAS1171541_Hbody mass index QTL GWAS1171541 (human)5e-09body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25096846350968464Human
407034332GWAS683308_Hunipolar depression QTL GWAS683308 (human)2e-09unipolar depression25098967250989673Human
406919646GWAS568622_Hsystolic blood pressure QTL GWAS568622 (human)6e-10arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)25040045950400460Human
597167160GWAS1263234_Hbody mass index QTL GWAS1263234 (human)4e-12body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25089654550896546Human
597025585GWAS1121659_Hbody mass index QTL GWAS1121659 (human)8e-17body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)24997397249973973Human
597025592GWAS1121666_Hbody mass index QTL GWAS1121666 (human)2e-08body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25062973250629733Human
597260855GWAS1356929_Hdementia QTL GWAS1356929 (human)0.000004dementia25029368650293687Human
597311535GWAS1407609_Hbody mass index QTL GWAS1407609 (human)6e-12body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25051488750514888Human
597281825GWAS1377899_Heducational attainment QTL GWAS1377899 (human)1e-35educational attainment25079034050790341Human
597281824GWAS1377898_Heducational attainment QTL GWAS1377898 (human)1e-11educational attainment25078375750783758Human
597281827GWAS1377901_Heducational attainment QTL GWAS1377901 (human)1e-21educational attainment25097573850975739Human
597281826GWAS1377900_Heducational attainment QTL GWAS1377900 (human)2e-13educational attainment25082316450823165Human
597239900GWAS1335974_HMyopia QTL GWAS1335974 (human)8e-08Myopia24992514249925143Human
597065296GWAS1161370_Hresponse to simvastatin, total cholesterol change measurement, response to fenofibrate QTL GWAS1161370 (human)0.0000001blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)25097165250971653Human
406954630GWAS603606_Hself reported educational attainment QTL GWAS603606 (human)2e-08self reported educational attainment25085334350853344Human
597152859GWAS1248933_HAlzheimer disease, educational attainment QTL GWAS1248933 (human)4e-08Alzheimer disease, educational attainment25085334350853344Human
597166934GWAS1263008_Hdry eye syndrome QTL GWAS1263008 (human)0.000009dry eye syndrome25090966450909665Human
597318996GWAS1415070_Hbody mass index QTL GWAS1415070 (human)2e-10body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25097310550973106Human
597102660GWAS1198734_Hreading and spelling ability QTL GWAS1198734 (human)0.000001cognitive behavior trait (VT:0010450)25076981450769815Human
597095493GWAS1191567_HFEV/FVC ratio, response to bronchodilator QTL GWAS1191567 (human)0.000003lung capacity (VT:0001942)forced expiratory volume to forced vital capacity ratio (CMO:0000241)25095883250958833Human
597324876GWAS1420950_H1,7-dimethylurate measurement QTL GWAS1420950 (human)0.0000011,7-dimethylurate measurement25030136250301363Human
597145423GWAS1241497_Hinternet addiction disorder QTL GWAS1241497 (human)4e-08behavior trait (VT:0010442)25062354850623549Human
597045878GWAS1141952_Hlifestyle measurement QTL GWAS1141952 (human)3e-11lifestyle measurement25037950450379505Human
597172090GWAS1268164_Hbody mass index QTL GWAS1268164 (human)2e-20body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)24997397249973973Human
597172091GWAS1268165_Hbody mass index QTL GWAS1268165 (human)6e-13body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25007584050075841Human
597172092GWAS1268166_Hbody mass index QTL GWAS1268166 (human)1e-15body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25048619350486194Human
597318782GWAS1414856_Hbody fat percentage QTL GWAS1414856 (human)3e-08body fat mass (VT:0010482)body fat percentage (CMO:0000302)25097310550973106Human
597039474GWAS1135548_Hrisk-taking behaviour QTL GWAS1135548 (human)8e-10exploratory behavior trait (VT:0010471)25101088451010885Human
597172093GWAS1268167_Hbody mass index QTL GWAS1268167 (human)4e-11body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25063204550632046Human
407060901GWAS709877_Hchronotype measurement QTL GWAS709877 (human)3e-12sleep behavior trait (VT:0001501)25029849050298491Human
597172094GWAS1268168_Hbody mass index QTL GWAS1268168 (human)4e-08body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25066980750669808Human
597172095GWAS1268169_Hbody mass index QTL GWAS1268169 (human)2e-08body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)25090193150901932Human
597188735GWAS1284809_Hmajor depressive disorder QTL GWAS1284809 (human)2e-09major depressive disorder25098967250989673Human
597228145GWAS1324219_Hself reported educational attainment QTL GWAS1324219 (human)8e-11self reported educational attainment25041875250418753Human
597323376GWAS1419450_Hsmoking initiation QTL GWAS1419450 (human)6e-15behavior trait (VT:0010442)24993186649931867Human
597228146GWAS1324220_Hself reported educational attainment QTL GWAS1324220 (human)6e-09self reported educational attainment25046580250465803Human
597323377GWAS1419451_Hsmoking initiation QTL GWAS1419451 (human)1e-14behavior trait (VT:0010442)25050880550508806Human
597228147GWAS1324221_Hself reported educational attainment QTL GWAS1324221 (human)2e-17self reported educational attainment25076711750767118Human
597228148GWAS1324222_Hself reported educational attainment QTL GWAS1324222 (human)2e-09self reported educational attainment25100313651003137Human
597288809GWAS1384883_Hbody weight QTL GWAS1384883 (human)6e-12body mass (VT:0001259)body weight (CMO:0000012)25089654550896546Human
597313129GWAS1409203_Hvaginal microbiome measurement QTL GWAS1409203 (human)0.0000008vaginal microbiome measurement25080957450809575Human
597192045GWAS1288119_Hlevel of Sterol ester (27:1/20:3) in blood serum QTL GWAS1288119 (human)3e-08level of Sterol ester (27:1/20:3) in blood serum25040813950408140Human
596969059GWAS1088578_Hbody mass index QTL GWAS1088578 (human)2e-14body mass index24997440949974410Human
597618280GWAS1675140_Hbiliary tract disease QTL GWAS1675140 (human)5e-12biliary tract disease25094193750941938Human
596973667GWAS1093186_Hmajor depressive disorder QTL GWAS1093186 (human)2e-09major depressive disorder25098967250989673Human
597048929GWAS1145003_Hcervical carcinoma QTL GWAS1145003 (human)0.000002uterus integrity trait (VT:0010575)25025681050256811Human
597223008GWAS1319082_Hmajor depressive disorder QTL GWAS1319082 (human)3e-08major depressive disorder25086836450868365Human
597326179GWAS1422253_Hpain QTL GWAS1422253 (human)0.000003pain threshold (VT:0001970)25075899050758991Human
597037930GWAS1134004_Hbody mass index QTL GWAS1134004 (human)7e-19body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)24997397249973973Human
597240678GWAS1336752_Heducational attainment QTL GWAS1336752 (human)1e-09educational attainment25039192050391921Human

Markers in Region
D2S1352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,833,714 - 50,833,825UniSTSGRCh37
Build 36250,687,218 - 50,687,329RGDNCBI36
Celera250,673,846 - 50,673,963RGD
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map2p21UniSTS
HuRef250,567,858 - 50,567,975UniSTS
Marshfield Genetic Map273.61UniSTS
Marshfield Genetic Map273.61RGD
Whitehead-YAC Contig Map2 UniSTS
D2S2156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37251,257,617 - 51,257,785UniSTSGRCh37
Build 36251,111,121 - 51,111,289RGDNCBI36
Celera251,097,784 - 51,097,952RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,992,499 - 50,992,665UniSTS
Marshfield Genetic Map273.61RGD
Marshfield Genetic Map273.61UniSTS
Genethon Genetic Map277.1UniSTS
deCODE Assembly Map276.47UniSTS
Whitehead-YAC Contig Map2 UniSTS
D2S2316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37251,092,653 - 51,092,857UniSTSGRCh37
GRCh37251,092,653 - 51,092,774UniSTSGRCh37
Build 36250,946,157 - 50,946,278RGDNCBI36
Celera250,932,839 - 50,933,045UniSTS
Celera250,932,839 - 50,932,960RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,827,587 - 50,827,712UniSTS
HuRef250,827,587 - 50,827,795UniSTS
Marshfield Genetic Map273.61UniSTS
Marshfield Genetic Map273.61RGD
Genethon Genetic Map277.1UniSTS
Whitehead-YAC Contig Map2 UniSTS
D2S1248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,600,587 - 50,600,935UniSTSGRCh37
Celera250,440,689 - 50,441,037UniSTS
Cytogenetic Map2p16.3UniSTS
HuRef250,334,027 - 50,334,375UniSTS
Marshfield Genetic Map272.79RGD
Marshfield Genetic Map272.79UniSTS
1528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,869,248 - 50,869,341UniSTSGRCh37
Build 36250,722,752 - 50,722,845RGDNCBI36
Celera250,709,388 - 50,709,481RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,603,438 - 50,603,531UniSTS
GeneMap99-GB4 RH Map2160.07UniSTS
SHGC-9451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,347,302 - 50,347,476UniSTSGRCh37
Build 36250,200,806 - 50,200,980RGDNCBI36
Celera250,187,458 - 50,187,632RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,080,788 - 50,080,962UniSTS
TNG Radiation Hybrid Map2677.0UniSTS
RH98360  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,474,114 - 50,474,236UniSTSGRCh37
Build 36250,327,618 - 50,327,740RGDNCBI36
Celera250,314,244 - 50,314,366RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,207,549 - 50,207,671UniSTS
GeneMap99-GB4 RH Map2160.07UniSTS
RH93424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,207,135 - 50,207,276UniSTSGRCh37
Build 36250,060,639 - 50,060,780RGDNCBI36
Celera250,047,338 - 50,047,479RGD
Cytogenetic Map2p16.3UniSTS
HuRef249,940,690 - 49,940,831UniSTS
GeneMap99-GB4 RH Map2150.7UniSTS
SHGC-86287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,979,854 - 50,980,124UniSTSGRCh37
Build 36250,833,358 - 50,833,628RGDNCBI36
Celera250,820,038 - 50,820,308RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,714,985 - 50,715,255UniSTS
RH121128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,338,056 - 50,338,358UniSTSGRCh37
Build 36250,191,560 - 50,191,862RGDNCBI36
Celera250,178,214 - 50,178,516RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,071,543 - 50,071,845UniSTS
TNG Radiation Hybrid Map2693.0UniSTS
RH123570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,875,844 - 50,876,132UniSTSGRCh37
Build 36250,729,348 - 50,729,636RGDNCBI36
Celera250,715,984 - 50,716,272RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,609,968 - 50,610,256UniSTS
RH119036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,365,284 - 50,365,566UniSTSGRCh37
Build 36250,218,788 - 50,219,070RGDNCBI36
Celera250,205,441 - 50,205,723RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,098,776 - 50,099,058UniSTS
TNG Radiation Hybrid Map2667.0UniSTS
RH119146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,468,915 - 50,469,218UniSTSGRCh37
Build 36250,322,419 - 50,322,722RGDNCBI36
Celera250,309,045 - 50,309,348RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,202,351 - 50,202,654UniSTS
D2S185E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,803,848 - 50,803,978UniSTSGRCh37
Build 36250,657,352 - 50,657,482RGDNCBI36
Celera250,643,971 - 50,644,101RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,537,985 - 50,538,115UniSTS
WI-10722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,580,130 - 50,580,239UniSTSGRCh37
Build 36250,433,634 - 50,433,743RGDNCBI36
Celera250,420,230 - 50,420,339RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,313,546 - 50,313,655UniSTS
Whitehead-RH Map2210.7UniSTS
SHGC-108032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,651,915 - 50,652,221UniSTSGRCh37
Build 36250,505,419 - 50,505,725RGDNCBI36
Celera250,492,004 - 50,492,310RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,386,255 - 50,386,561UniSTS
TNG Radiation Hybrid Map237861.0UniSTS
SHGC-154033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,599,852 - 50,600,158UniSTSGRCh37
Build 36250,453,356 - 50,453,662RGDNCBI36
Celera250,439,954 - 50,440,260RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,333,283 - 50,333,589UniSTS
TNG Radiation Hybrid Map237883.0UniSTS
SHGC-155339  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,599,664 - 50,599,982UniSTSGRCh37
Build 36250,453,168 - 50,453,486RGDNCBI36
Celera250,439,766 - 50,440,084RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,333,095 - 50,333,413UniSTS
TNG Radiation Hybrid Map237872.0UniSTS
SHGC-172604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,652,400 - 50,652,688UniSTSGRCh37
Build 36250,505,904 - 50,506,192RGDNCBI36
Celera250,492,489 - 50,492,777RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,386,740 - 50,387,028UniSTS
TNG Radiation Hybrid Map237897.0UniSTS
A006Y06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,147,542 - 50,147,674UniSTSGRCh37
Build 36250,001,046 - 50,001,178RGDNCBI36
Celera249,987,749 - 49,987,881RGD
Cytogenetic Map2p16.3UniSTS
HuRef249,880,993 - 49,881,125UniSTS
GeneMap99-GB4 RH Map2158.62UniSTS
NCBI RH Map2315.1UniSTS
NRXN1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,148,738 - 50,148,878UniSTSGRCh37
Build 36250,002,242 - 50,002,382RGDNCBI36
Celera249,988,943 - 49,989,083RGD
HuRef249,882,183 - 49,882,323UniSTS
D2S2811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,817,526 - 50,817,739UniSTSGRCh37
Build 36250,671,030 - 50,671,243RGDNCBI36
Celera250,657,653 - 50,657,866RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,551,666 - 50,551,879UniSTS
TNG Radiation Hybrid Map937795.0UniSTS
Stanford-G3 RH Map22092.0UniSTS
G20243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,149,052 - 50,149,165UniSTSGRCh37
Build 36250,002,556 - 50,002,669RGDNCBI36
Celera249,989,257 - 49,989,370RGD
Cytogenetic Map2p16.3UniSTS
HuRef249,882,497 - 49,882,610UniSTS
A005B20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,149,052 - 50,149,165UniSTSGRCh37
Build 36250,002,556 - 50,002,669RGDNCBI36
Celera249,989,257 - 49,989,370RGD
Cytogenetic Map2p16.3UniSTS
HuRef249,882,497 - 49,882,610UniSTS
GeneMap99-GB4 RH Map2150.7UniSTS
STS-M78661  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,803,779 - 50,803,868UniSTSGRCh37
Build 36250,657,283 - 50,657,372RGDNCBI36
Celera250,643,902 - 50,643,991RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,537,916 - 50,538,005UniSTS
GeneMap99-GB4 RH Map2160.34UniSTS
NCBI RH Map2315.1UniSTS
G35313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37251,203,352 - 51,203,570UniSTSGRCh37
Build 36251,056,856 - 51,057,074RGDNCBI36
Celera251,043,529 - 51,043,747RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,938,307 - 50,938,525UniSTS
WI-15508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37251,045,370 - 51,045,477UniSTSGRCh37
Build 36250,898,874 - 50,898,981RGDNCBI36
Celera250,885,562 - 50,885,669RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,780,318 - 50,780,425UniSTS
GeneMap99-GB4 RH Map2159.26UniSTS
Whitehead-RH Map2216.5UniSTS
NCBI RH Map2315.1UniSTS
RH16667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37251,111,255 - 51,111,359UniSTSGRCh37
Build 36250,964,759 - 50,964,863RGDNCBI36
Celera250,951,433 - 50,951,537RGD
Cytogenetic Map2p16.3UniSTS
HuRef250,846,189 - 50,846,293UniSTS
GeneMap99-GB4 RH Map2154.56UniSTS
WI-16372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,148,343 - 50,148,467UniSTSGRCh37
Build 36250,001,847 - 50,001,971RGDNCBI36
Celera249,988,548 - 49,988,672RGD
Cytogenetic Map2p16.3UniSTS
HuRef249,881,788 - 49,881,912UniSTS
GeneMap99-GB4 RH Map2150.18UniSTS
Whitehead-RH Map2208.4UniSTS
RH11979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,251,891 - 50,252,059UniSTSGRCh37
Build 36250,105,395 - 50,105,563RGDNCBI36
Celera250,092,089 - 50,092,257RGD
Cytogenetic Map2p16.3UniSTS
HuRef249,985,411 - 49,985,579UniSTS
GeneMap99-GB4 RH Map2158.73UniSTS
NCBI RH Map2315.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1200 2264 2776 2224 4838 1497 1922 1 450 1234 288 2177 6039 5701 23 3693 623 1519 1368 165 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB035356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC078994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF064842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF087975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM021375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX113737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  C15866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA153976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA168874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA320230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA322531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC324848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC333548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF539882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000331040   ⟹   ENSP00000489573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,199,137 - 50,656,414 (-)Ensembl
Ensembl Acc Id: ENST00000342183   ⟹   ENSP00000341184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,920,763 - 50,347,754 (-)Ensembl
Ensembl Acc Id: ENST00000378262   ⟹   ENSP00000367510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,921,238 - 49,974,203 (-)Ensembl
Ensembl Acc Id: ENST00000401669   ⟹   ENSP00000385017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,918,503 - 51,032,132 (-)Ensembl
Ensembl Acc Id: ENST00000401710   ⟹   ENSP00000385580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,921,307 - 50,347,766 (-)Ensembl
Ensembl Acc Id: ENST00000402717   ⟹   ENSP00000385434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,465,443 - 50,623,616 (-)Ensembl
Ensembl Acc Id: ENST00000404971   ⟹   ENSP00000385142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,920,350 - 51,032,399 (-)Ensembl
Ensembl Acc Id: ENST00000405472   ⟹   ENSP00000434015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,921,763 - 51,032,114 (-)Ensembl
Ensembl Acc Id: ENST00000405581   ⟹   ENSP00000385310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,916,822 - 51,032,120 (-)Ensembl
Ensembl Acc Id: ENST00000406316   ⟹   ENSP00000384311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,918,505 - 51,032,561 (-)Ensembl
Ensembl Acc Id: ENST00000406859   ⟹   ENSP00000385681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,465,443 - 50,623,616 (-)Ensembl
Ensembl Acc Id: ENST00000412315   ⟹   ENSP00000396738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,920,348 - 49,974,199 (-)Ensembl
Ensembl Acc Id: ENST00000416262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl251,201,943 - 51,221,764 (-)Ensembl
Ensembl Acc Id: ENST00000447773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl251,201,926 - 51,225,528 (-)Ensembl
Ensembl Acc Id: ENST00000462791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,465,106 - 50,506,967 (-)Ensembl
Ensembl Acc Id: ENST00000474354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,497,575 - 50,528,935 (-)Ensembl
Ensembl Acc Id: ENST00000484192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,921,631 - 50,016,545 (-)Ensembl
Ensembl Acc Id: ENST00000495871   ⟹   ENSP00000486185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,497,679 - 50,620,052 (-)Ensembl
Ensembl Acc Id: ENST00000496792   ⟹   ENSP00000487165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,922,521 - 51,027,798 (-)Ensembl
Ensembl Acc Id: ENST00000611589   ⟹   ENSP00000483634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,921,642 - 50,347,254 (-)Ensembl
Ensembl Acc Id: ENST00000625320   ⟹   ENSP00000486253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,236,823 - 50,496,076 (-)Ensembl
Ensembl Acc Id: ENST00000625672   ⟹   ENSP00000485887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,918,505 - 51,028,456 (-)Ensembl
Ensembl Acc Id: ENST00000625891   ⟹   ENSP00000489108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,619,295 - 50,656,410 (-)Ensembl
Ensembl Acc Id: ENST00000626192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,465,405 - 50,495,933 (-)Ensembl
Ensembl Acc Id: ENST00000626249   ⟹   ENSP00000485723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,615,348 - 50,656,399 (-)Ensembl
Ensembl Acc Id: ENST00000626899   ⟹   ENSP00000485912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,919,770 - 51,032,536 (-)Ensembl
Ensembl Acc Id: ENST00000627198   ⟹   ENSP00000487268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,757,980 - 51,027,703 (-)Ensembl
Ensembl Acc Id: ENST00000628364   ⟹   ENSP00000485815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,921,757 - 50,347,796 (-)Ensembl
Ensembl Acc Id: ENST00000628515   ⟹   ENSP00000486544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,619,107 - 51,032,151 (-)Ensembl
Ensembl Acc Id: ENST00000628761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,619,645 - 50,637,564 (-)Ensembl
Ensembl Acc Id: ENST00000629717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,921,756 - 50,019,275 (-)Ensembl
Ensembl Acc Id: ENST00000630431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,623,356 - 50,985,428 (-)Ensembl
Ensembl Acc Id: ENST00000630543   ⟹   ENSP00000486879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,921,944 - 51,028,273 (-)Ensembl
Ensembl Acc Id: ENST00000630656   ⟹   ENSP00000486993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,921,743 - 49,973,939 (-)Ensembl
Ensembl Acc Id: ENST00000634412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,920,364 - 49,974,166 (-)Ensembl
Ensembl Acc Id: ENST00000634431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,918,902 - 49,974,118 (-)Ensembl
Ensembl Acc Id: ENST00000634764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,918,899 - 49,974,115 (-)Ensembl
Ensembl Acc Id: ENST00000635126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl251,032,739 - 51,225,564 (-)Ensembl
Ensembl Acc Id: ENST00000635164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,920,090 - 49,974,107 (-)Ensembl
Ensembl Acc Id: ENST00000635264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,921,995 - 50,417,255 (-)Ensembl
Ensembl Acc Id: ENST00000635310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl251,028,374 - 51,082,864 (-)Ensembl
Ensembl Acc Id: ENST00000635519   ⟹   ENSP00000489258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,919,069 - 49,974,155 (-)Ensembl
Ensembl Acc Id: ENST00000635834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,463,968 - 50,465,492 (-)Ensembl
Ensembl Acc Id: ENST00000636066   ⟹   ENSP00000490017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,916,826 - 51,027,830 (-)Ensembl
Ensembl Acc Id: ENST00000636104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl251,201,867 - 51,225,564 (-)Ensembl
Ensembl Acc Id: ENST00000636298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,174,651 - 50,623,370 (-)Ensembl
Ensembl Acc Id: ENST00000636342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,506,600 - 50,526,787 (-)Ensembl
Ensembl Acc Id: ENST00000636345   ⟹   ENSP00000489745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,918,896 - 49,974,115 (-)Ensembl
Ensembl Acc Id: ENST00000636599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl251,032,205 - 51,032,443 (-)Ensembl
Ensembl Acc Id: ENST00000636736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,105,235 - 50,236,840 (-)Ensembl
Ensembl Acc Id: ENST00000636818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,236,923 - 50,432,324 (-)Ensembl
Ensembl Acc Id: ENST00000637006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl251,029,165 - 51,032,469 (-)Ensembl
Ensembl Acc Id: ENST00000637021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,551,290 - 50,552,613 (-)Ensembl
Ensembl Acc Id: ENST00000637151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,464,430 - 50,465,511 (-)Ensembl
Ensembl Acc Id: ENST00000637207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,538,574 - 50,548,182 (-)Ensembl
Ensembl Acc Id: ENST00000637368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl251,201,943 - 51,225,575 (-)Ensembl
Ensembl Acc Id: ENST00000637459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,548,183 - 50,552,648 (-)Ensembl
Ensembl Acc Id: ENST00000637472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,912,207 - 50,912,931 (-)Ensembl
Ensembl Acc Id: ENST00000637511   ⟹   ENSP00000490494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,916,848 - 51,032,101 (-)Ensembl
Ensembl Acc Id: ENST00000637605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,554,417 - 50,620,049 (-)Ensembl
Ensembl Acc Id: ENST00000637653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,538,575 - 50,551,308 (-)Ensembl
Ensembl Acc Id: ENST00000637679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl251,009,245 - 51,027,567 (-)Ensembl
Ensembl Acc Id: ENST00000637889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,022,692 - 50,497,378 (-)Ensembl
Ensembl Acc Id: ENST00000637906   ⟹   ENSP00000490198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl249,921,586 - 50,346,832 (-)Ensembl
Ensembl Acc Id: ENST00000637975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl251,201,933 - 51,225,532 (-)Ensembl
Ensembl Acc Id: ENST00000638037   ⟹   ENSP00000490210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,538,615 - 50,552,610 (-)Ensembl
Ensembl Acc Id: ENST00000638060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl251,029,165 - 51,033,038 (-)Ensembl
Ensembl Acc Id: ENST00000675235   ⟹   ENSP00000501718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl250,916,840 - 51,028,273 (-)Ensembl
RefSeq Acc Id: NM_001135659   ⟹   NP_001129131
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 51,032,132 (-)NCBI
GRCh37250,145,643 - 51,259,674 (-)NCBI
HuRef249,879,094 - 50,994,141 (-)ENTREZGENE
CHM1_1250,076,199 - 51,190,490 (-)NCBI
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320156   ⟹   NP_001307085
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 49,974,166 (-)NCBI
CHM1_1250,076,197 - 50,131,894 (-)NCBI
T2T-CHM13v2.0249,914,520 - 49,970,162 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320157   ⟹   NP_001307086
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 49,974,166 (-)NCBI
CHM1_1250,076,197 - 50,131,894 (-)NCBI
T2T-CHM13v2.0249,914,520 - 49,970,162 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330077   ⟹   NP_001317006
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 51,032,132 (-)NCBI
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330078   ⟹   NP_001317007
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 51,032,132 (-)NCBI
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330079   ⟹   NP_001317008
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38250,916,822 - 51,032,132 (-)NCBI
T2T-CHM13v2.0250,912,965 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330081   ⟹   NP_001317010
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38250,916,822 - 51,032,132 (-)NCBI
T2T-CHM13v2.0250,912,965 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330082   ⟹   NP_001317011
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 51,032,132 (-)NCBI
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330083   ⟹   NP_001317012
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 51,032,132 (-)NCBI
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330084   ⟹   NP_001317013
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 51,032,132 (-)NCBI
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330085   ⟹   NP_001317014
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 51,032,132 (-)NCBI
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330086   ⟹   NP_001317015
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 51,032,132 (-)NCBI
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330087   ⟹   NP_001317016
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 51,032,132 (-)NCBI
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330088   ⟹   NP_001317017
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 51,032,132 (-)NCBI
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330089   ⟹   NP_001317018
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38250,922,521 - 51,032,132 (-)NCBI
T2T-CHM13v2.0250,918,664 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330090   ⟹   NP_001317019
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38250,916,822 - 51,032,132 (-)NCBI
T2T-CHM13v2.0250,912,965 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330091   ⟹   NP_001317020
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 50,347,807 (-)NCBI
T2T-CHM13v2.0249,914,520 - 50,343,561 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330092   ⟹   NP_001317021
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 50,347,807 (-)NCBI
T2T-CHM13v2.0249,914,520 - 50,343,561 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330093   ⟹   NP_001317022
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 51,032,132 (-)NCBI
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330094   ⟹   NP_001317023
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 51,032,132 (-)NCBI
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330095   ⟹   NP_001317024
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 51,032,132 (-)NCBI
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330096   ⟹   NP_001317025
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 51,032,132 (-)NCBI
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330097   ⟹   NP_001317026
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 50,347,807 (-)NCBI
T2T-CHM13v2.0249,914,520 - 50,343,561 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004801   ⟹   NP_004792
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 51,032,132 (-)NCBI
GRCh37250,145,643 - 51,259,674 (-)NCBI
Build 36250,000,992 - 51,113,178 (-)NCBI Archive
HuRef249,879,094 - 50,994,141 (-)ENTREZGENE
CHM1_1250,076,199 - 51,190,490 (-)NCBI
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBI
Sequence:
RefSeq Acc Id: NM_138735   ⟹   NP_620072
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,918,503 - 50,347,807 (-)NCBI
GRCh37250,145,643 - 51,259,674 (-)ENTREZGENE
Build 36250,000,992 - 50,428,398 (-)NCBI Archive
HuRef249,879,094 - 50,994,141 (-)ENTREZGENE
CHM1_1250,076,199 - 50,505,482 (-)NCBI
T2T-CHM13v2.0249,914,520 - 50,343,561 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001129131 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307085 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307086 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317006 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317007 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317008 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317010 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317011 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317012 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317013 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317014 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317015 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317016 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317017 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317018 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317019 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317020 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317021 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317022 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317023 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317024 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317025 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317026 (Get FASTA)   NCBI Sequence Viewer  
  NP_004792 (Get FASTA)   NCBI Sequence Viewer  
  NP_620072 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF03536 (Get FASTA)   NCBI Sequence Viewer  
  AAG38120 (Get FASTA)   NCBI Sequence Viewer  
  AAG59602 (Get FASTA)   NCBI Sequence Viewer  
  AAG59642 (Get FASTA)   NCBI Sequence Viewer  
  AAH46631 (Get FASTA)   NCBI Sequence Viewer  
  AAI25180 (Get FASTA)   NCBI Sequence Viewer  
  AAI25181 (Get FASTA)   NCBI Sequence Viewer  
  AAK06387 (Get FASTA)   NCBI Sequence Viewer  
  AAY14894 (Get FASTA)   NCBI Sequence Viewer  
  AAY14944 (Get FASTA)   NCBI Sequence Viewer  
  ABS86974 (Get FASTA)   NCBI Sequence Viewer  
  BAA25504 (Get FASTA)   NCBI Sequence Viewer  
  BAA87821 (Get FASTA)   NCBI Sequence Viewer  
  BAG58597 (Get FASTA)   NCBI Sequence Viewer  
  CAI46085 (Get FASTA)   NCBI Sequence Viewer  
  EAX00182 (Get FASTA)   NCBI Sequence Viewer  
  EAX00183 (Get FASTA)   NCBI Sequence Viewer  
  EAX00184 (Get FASTA)   NCBI Sequence Viewer  
  EAX00185 (Get FASTA)   NCBI Sequence Viewer  
  EAX00186 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000341184
  ENSP00000341184.5
  ENSP00000367510
  ENSP00000384311
  ENSP00000384311.2
  ENSP00000385017
  ENSP00000385017.2
  ENSP00000385142
  ENSP00000385142.1
  ENSP00000385310
  ENSP00000385580
  ENSP00000385580.2
  ENSP00000396738
  ENSP00000485815
  ENSP00000485887
  ENSP00000485887.1
  ENSP00000485912
  ENSP00000486879
  ENSP00000490494
GenBank Protein P58400 (Get FASTA)   NCBI Sequence Viewer  
  Q9ULB1 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004792   ⟸   NM_004801
- Peptide Label: isoform alpha1 precursor
- UniProtKB: E7ERL8 (UniProtKB/Swiss-Prot),   Q9H3M2 (UniProtKB/Swiss-Prot),   Q9C081 (UniProtKB/Swiss-Prot),   Q9C080 (UniProtKB/Swiss-Prot),   Q9C079 (UniProtKB/Swiss-Prot),   Q5HYI0 (UniProtKB/Swiss-Prot),   Q53TQ1 (UniProtKB/Swiss-Prot),   Q53TJ9 (UniProtKB/Swiss-Prot),   O60323 (UniProtKB/Swiss-Prot),   A7KRL9 (UniProtKB/Swiss-Prot),   Q9UDM6 (UniProtKB/Swiss-Prot),   Q9ULB1 (UniProtKB/Swiss-Prot),   A0A0R4J2G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129131   ⟸   NM_001135659
- Peptide Label: isoform alpha2 precursor
- UniProtKB: A0A0R4J2G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_620072   ⟸   NM_138735
- Peptide Label: isoform beta1
- UniProtKB: A4FVB9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307086   ⟸   NM_001320157
- Peptide Label: isoform gamma2
- UniProtKB: H0Y568 (UniProtKB/TrEMBL),   A0A1B0GTL0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307085   ⟸   NM_001320156
- Peptide Label: isoform gamma1
- UniProtKB: H7BYC7 (UniProtKB/TrEMBL),   A0A1B0GTL0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317025   ⟸   NM_001330096
- Peptide Label: isoform alpha15 precursor
- UniProtKB: A0A0R4J2G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317016   ⟸   NM_001330087
- Peptide Label: isoform alpha10 precursor
- UniProtKB: A0A0R4J2G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317012   ⟸   NM_001330083
- Peptide Label: isoform alpha6 precursor
- UniProtKB: A0A0R4J2G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317013   ⟸   NM_001330084
- Peptide Label: isoform alpha7 precursor
- UniProtKB: A0A0R4J2G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317017   ⟸   NM_001330088
- Peptide Label: isoform alpha11 precursor
- UniProtKB: A0A0R4J2G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317022   ⟸   NM_001330093
- Peptide Label: isoform alpha12 precursor
- UniProtKB: A0A0R4J2G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317023   ⟸   NM_001330094
- Peptide Label: isoform alpha13 precursor
- UniProtKB: A0A0R4J2G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317024   ⟸   NM_001330095
- Peptide Label: isoform alpha14 precursor
- UniProtKB: A0A0R4J2G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317011   ⟸   NM_001330082
- Peptide Label: isoform alpha5 precursor
- UniProtKB: A0A0R4J2G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317006   ⟸   NM_001330077
- Peptide Label: isoform alpha3 precursor
- UniProtKB: A0A1D5RMU6 (UniProtKB/TrEMBL),   A0A0R4J2G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317014   ⟸   NM_001330085
- Peptide Label: isoform alpha8 precursor
- UniProtKB: A0A0R4J2G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317015   ⟸   NM_001330086
- Peptide Label: isoform alpha9 precursor
- UniProtKB: A0A0R4J2G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317007   ⟸   NM_001330078
- Peptide Label: isoform alpha4 precursor
- UniProtKB: A0A0R4J2G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317026   ⟸   NM_001330097
- Peptide Label: isoform beta4
- UniProtKB: A4FVB9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317020   ⟸   NM_001330091
- Peptide Label: isoform beta2
- UniProtKB: A0A0D9SEM5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317021   ⟸   NM_001330092
- Peptide Label: isoform beta3
- UniProtKB: E7ETA5 (UniProtKB/Swiss-Prot),   P58400 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001317008   ⟸   NM_001330079
- Peptide Label: isoform 6 precursor
- UniProtKB: A0A0D9SEQ7 (UniProtKB/TrEMBL),   Q49A31 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317019   ⟸   NM_001330090
- Peptide Label: isoform 9 precursor
- UniProtKB: Q49A31 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317010   ⟸   NM_001330081
- Peptide Label: isoform 7 precursor
- UniProtKB: E7EQN4 (UniProtKB/TrEMBL),   Q49A31 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317018   ⟸   NM_001330089
- Peptide Label: isoform 8 precursor
- UniProtKB: Q49A31 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000489573   ⟸   ENST00000331040
Ensembl Acc Id: ENSP00000489258   ⟸   ENST00000635519
Ensembl Acc Id: ENSP00000490017   ⟸   ENST00000636066
Ensembl Acc Id: ENSP00000489745   ⟸   ENST00000636345
Ensembl Acc Id: ENSP00000490494   ⟸   ENST00000637511
Ensembl Acc Id: ENSP00000490198   ⟸   ENST00000637906
Ensembl Acc Id: ENSP00000396738   ⟸   ENST00000412315
Ensembl Acc Id: ENSP00000490210   ⟸   ENST00000638037
Ensembl Acc Id: ENSP00000486253   ⟸   ENST00000625320
Ensembl Acc Id: ENSP00000489108   ⟸   ENST00000625891
Ensembl Acc Id: ENSP00000485887   ⟸   ENST00000625672
Ensembl Acc Id: ENSP00000483634   ⟸   ENST00000611589
Ensembl Acc Id: ENSP00000485912   ⟸   ENST00000626899
Ensembl Acc Id: ENSP00000385017   ⟸   ENST00000401669
Ensembl Acc Id: ENSP00000385580   ⟸   ENST00000401710
Ensembl Acc Id: ENSP00000485723   ⟸   ENST00000626249
Ensembl Acc Id: ENSP00000385434   ⟸   ENST00000402717
Ensembl Acc Id: ENSP00000486185   ⟸   ENST00000495871
Ensembl Acc Id: ENSP00000487268   ⟸   ENST00000627198
Ensembl Acc Id: ENSP00000367510   ⟸   ENST00000378262
Ensembl Acc Id: ENSP00000486544   ⟸   ENST00000628515
Ensembl Acc Id: ENSP00000485815   ⟸   ENST00000628364
Ensembl Acc Id: ENSP00000487165   ⟸   ENST00000496792
Ensembl Acc Id: ENSP00000385142   ⟸   ENST00000404971
Ensembl Acc Id: ENSP00000434015   ⟸   ENST00000405472
Ensembl Acc Id: ENSP00000385310   ⟸   ENST00000405581
Ensembl Acc Id: ENSP00000384311   ⟸   ENST00000406316
Ensembl Acc Id: ENSP00000385681   ⟸   ENST00000406859
Ensembl Acc Id: ENSP00000486993   ⟸   ENST00000630656
Ensembl Acc Id: ENSP00000486879   ⟸   ENST00000630543
Ensembl Acc Id: ENSP00000341184   ⟸   ENST00000342183
Ensembl Acc Id: ENSP00000501718   ⟸   ENST00000675235
Protein Domains
EGF-like   Laminin G   Laminin G-like   Neurexin/syndecan/glycophorin C

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9ULB1-F1-model_v2 AlphaFold Q9ULB1 1-1477 view protein structure

Promoters
RGD ID:6860300
Promoter ID:EPDNEW_H3315
Type:initiation region
Name:NRXN1_4
Description:neurexin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3316  EPDNEW_H3317  EPDNEW_H3318  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38249,974,115 - 49,974,175EPDNEW
RGD ID:6797894
Promoter ID:HG_KWN:32610
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000323984,   OTTHUMT00000325296
Position:
Human AssemblyChrPosition (strand)Source
Build 36250,054,654 - 50,055,154 (-)MPROMDB
RGD ID:6860302
Promoter ID:EPDNEW_H3316
Type:initiation region
Name:NRXN1_3
Description:neurexin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3315  EPDNEW_H3317  EPDNEW_H3318  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38250,347,805 - 50,347,865EPDNEW
RGD ID:6860304
Promoter ID:EPDNEW_H3317
Type:initiation region
Name:NRXN1_1
Description:neurexin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3315  EPDNEW_H3316  EPDNEW_H3318  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38251,032,132 - 51,032,192EPDNEW
RGD ID:6860306
Promoter ID:EPDNEW_H3318
Type:initiation region
Name:NRXN1_2
Description:neurexin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3315  EPDNEW_H3316  EPDNEW_H3317  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38251,032,435 - 51,032,495EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8008 AgrOrtholog
COSMIC NRXN1 COSMIC
Ensembl Genes ENSG00000179915 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000342183 ENTREZGENE
  ENST00000342183.9 UniProtKB/Swiss-Prot
  ENST00000378262 ENTREZGENE
  ENST00000401669 ENTREZGENE
  ENST00000401669.7 UniProtKB/Swiss-Prot
  ENST00000401710 ENTREZGENE
  ENST00000401710.5 UniProtKB/Swiss-Prot
  ENST00000404971 ENTREZGENE
  ENST00000404971.5 UniProtKB/Swiss-Prot
  ENST00000405581 ENTREZGENE
  ENST00000406316 ENTREZGENE
  ENST00000406316.6 UniProtKB/Swiss-Prot
  ENST00000412315 ENTREZGENE
  ENST00000625672 ENTREZGENE
  ENST00000625672.2 UniProtKB/Swiss-Prot
  ENST00000626899 ENTREZGENE
  ENST00000628364 ENTREZGENE
  ENST00000630543 ENTREZGENE
  ENST00000637511 ENTREZGENE
Gene3D-CATH 2.60.120.200 UniProtKB/Swiss-Prot
  Laminin UniProtKB/Swiss-Prot
GTEx ENSG00000179915 GTEx
HGNC ID HGNC:8008 ENTREZGENE
Human Proteome Map NRXN1 Human Proteome Map
InterPro ConA-like_dom_sf UniProtKB/Swiss-Prot
  EGF-like_dom UniProtKB/Swiss-Prot
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot
  Laminin_G UniProtKB/Swiss-Prot
  Neurexin-like UniProtKB/Swiss-Prot
  Neurexin-related_CASP UniProtKB/Swiss-Prot
  Syndecan/Neurexin_dom UniProtKB/Swiss-Prot
KEGG Report hsa:9378 UniProtKB/Swiss-Prot
NCBI Gene 9378 ENTREZGENE
OMIM 600565 OMIM
PANTHER NEUREXIN-1 UniProtKB/Swiss-Prot
  PIKACHURIN-LIKE PROTEIN UniProtKB/Swiss-Prot
  SP2353, ISOFORM A UniProtKB/Swiss-Prot
Pfam EGF UniProtKB/Swiss-Prot
  Laminin_G_2 UniProtKB/Swiss-Prot
  Syndecan UniProtKB/Swiss-Prot
PharmGKB PA31786 PharmGKB
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot
  EGF_3 UniProtKB/Swiss-Prot
  LAM_G_DOMAIN UniProtKB/Swiss-Prot
SMART 4.1m UniProtKB/Swiss-Prot
  EGF UniProtKB/Swiss-Prot
  LamG UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49899 UniProtKB/Swiss-Prot
UniProt A0A0D9SEJ1_HUMAN UniProtKB/TrEMBL
  A0A0D9SEM5 ENTREZGENE, UniProtKB/TrEMBL
  A0A0D9SEQ7 ENTREZGENE, UniProtKB/TrEMBL
  A0A0D9SF07_HUMAN UniProtKB/TrEMBL
  A0A0D9SF36_HUMAN UniProtKB/TrEMBL
  A0A0D9SFF4_HUMAN UniProtKB/TrEMBL
  A0A0D9SFY6_HUMAN UniProtKB/TrEMBL
  A0A0D9SG60_HUMAN UniProtKB/TrEMBL
  A0A0D9SG96_HUMAN UniProtKB/TrEMBL
  A0A0R4J2G7 ENTREZGENE, UniProtKB/TrEMBL
  A0A0U1RQP8_HUMAN UniProtKB/TrEMBL
  A0A0U1RR00_HUMAN UniProtKB/TrEMBL
  A0A0U1RRK7_HUMAN UniProtKB/TrEMBL
  A0A1B0GTL0 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GU94_HUMAN UniProtKB/TrEMBL
  A0A1B0GUQ1_HUMAN UniProtKB/TrEMBL
  A0A1B0GUR2_HUMAN UniProtKB/TrEMBL
  A0A1B0GVF4_HUMAN UniProtKB/TrEMBL
  A0A1D5RMU6 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PFA2_HUMAN UniProtKB/TrEMBL
  A4FVB9 ENTREZGENE, UniProtKB/TrEMBL
  A7KRL9 ENTREZGENE
  E7EQN4 ENTREZGENE, UniProtKB/TrEMBL
  E7ERL8 ENTREZGENE
  E7ETA5 ENTREZGENE
  H0Y568 ENTREZGENE, UniProtKB/TrEMBL
  H7BYC7 ENTREZGENE, UniProtKB/TrEMBL
  NRX1A_HUMAN UniProtKB/Swiss-Prot
  NRX1B_HUMAN UniProtKB/Swiss-Prot
  O60323 ENTREZGENE
  P58400 ENTREZGENE
  Q08AH0_HUMAN UniProtKB/TrEMBL
  Q49A31 ENTREZGENE, UniProtKB/TrEMBL
  Q53TJ9 ENTREZGENE
  Q53TQ1 ENTREZGENE
  Q5HYI0 ENTREZGENE
  Q9C079 ENTREZGENE
  Q9C080 ENTREZGENE
  Q9C081 ENTREZGENE
  Q9H3M2 ENTREZGENE
  Q9UDM6 ENTREZGENE
  Q9ULB1 ENTREZGENE
UniProt Secondary A7KRL9 UniProtKB/Swiss-Prot
  E7ERL8 UniProtKB/Swiss-Prot
  E7ETA5 UniProtKB/Swiss-Prot
  O60323 UniProtKB/Swiss-Prot
  Q53TJ9 UniProtKB/Swiss-Prot
  Q53TQ1 UniProtKB/Swiss-Prot
  Q5HYI0 UniProtKB/Swiss-Prot
  Q9C079 UniProtKB/Swiss-Prot
  Q9C080 UniProtKB/Swiss-Prot
  Q9C081 UniProtKB/Swiss-Prot
  Q9H3M2 UniProtKB/Swiss-Prot
  Q9UDM6 UniProtKB/Swiss-Prot