PXDN (peroxidasin) - Rat Genome Database

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Gene: PXDN (peroxidasin) Homo sapiens
Analyze
Symbol: PXDN
Name: peroxidasin
RGD ID: 1607083
HGNC Page HGNC:14966
Description: Enables heme binding activity; laminin-1 binding activity; and peroxidase activity. An extracellular matrix structural constituent. Involved in collagen fibril organization; hydrogen peroxide catabolic process; and protein homotrimerization. Located in several cellular components, including cell surface; endoplasmic reticulum; and extracellular space. Implicated in anterior segment dysgenesis 7.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ASGD7; COPOA; D2S448; D2S448E; hsPxd01; KIAA0230; melanoma-associated antigen MG50; MG50; p53-responsive gene 2 protein; peroxidasin 1; peroxidasin homolog; PRG2; PXN; vascular peroxidase 1; VPO
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
GRCh3821,631,887 - 1,744,901 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl21,631,887 - 1,744,852 (-)EnsemblGRCh38hg38GRCh38
GRCh3721,635,659 - 1,748,287 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3621,614,666 - 1,727,298 (-)NCBINCBI36Build 36hg18NCBI36
Celera21,683,129 - 1,795,627 (-)NCBICelera
Cytogenetic Map2p25.3NCBI
HuRef21,647,904 - 1,732,959 (-)NCBIHuRef
HuRef21,620,535 - 1,643,248 (-)NCBIHuRef
CHM1_121,634,784 - 1,746,414 (-)NCBICHM1_1
T2T-CHM13v2.021,639,438 - 1,752,655 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
aconitine  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
alpha-Zearalanol  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
carbon nanotube  (ISO)
carnosic acid  (ISO)
cerium trichloride  (EXP)
CGP 52608  (EXP)
chloropicrin  (EXP)
ciglitazone  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
DDE  (EXP)
decabromodiphenyl ether  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dimethyl sulfoxide  (ISO)
dioxygen  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fluoranthene  (ISO)
flutamide  (ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (EXP)
iron atom  (EXP)
iron(0)  (EXP)
ivermectin  (EXP)
lanthanum trichloride  (EXP)
lucanthone  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
methyl methanesulfonate  (EXP)
mifepristone  (ISO)
N-nitrosodiethylamine  (ISO)
Nutlin-3  (EXP)
oxaliplatin  (EXP,ISO)
paraquat  (EXP)
perfluorooctanoic acid  (ISO)
potassium chromate  (EXP)
propanal  (EXP)
resveratrol  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dodecyl sulfate  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
testosterone  (ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7959781   PMID:9039502   PMID:10441517   PMID:11103812   PMID:12023963   PMID:12477932   PMID:14702039   PMID:15146197   PMID:16344560   PMID:18929642   PMID:19590037   PMID:19724895  
PMID:19851296   PMID:20198315   PMID:20301552   PMID:20379614   PMID:20800603   PMID:21798344   PMID:21820048   PMID:21873635   PMID:21907015   PMID:21988832   PMID:22157634   PMID:22268729  
PMID:22526679   PMID:22842973   PMID:22982576   PMID:23533145   PMID:23686814   PMID:23979707   PMID:24163370   PMID:24556843   PMID:24895407   PMID:24939590   PMID:25708780   PMID:25713063  
PMID:25921289   PMID:26178375   PMID:26186194   PMID:26344197   PMID:26618866   PMID:27167346   PMID:27475679   PMID:27697841   PMID:28005267   PMID:28154175   PMID:28264790   PMID:28327460  
PMID:28514442   PMID:28611215   PMID:29305973   PMID:29507755   PMID:29509190   PMID:29573705   PMID:29661721   PMID:29982533   PMID:30371171   PMID:30413534   PMID:30833792   PMID:30844643  
PMID:31067453   PMID:31073040   PMID:31234468   PMID:31295557   PMID:31478661   PMID:31527615   PMID:31586073   PMID:31862882   PMID:31953133   PMID:32015378   PMID:32322062   PMID:32409323  
PMID:32485152   PMID:32543734   PMID:32571911   PMID:32572027   PMID:32707033   PMID:32751434   PMID:32813143   PMID:33005030   PMID:33545068   PMID:33903591   PMID:33961781   PMID:33985410  
PMID:34079125   PMID:35093588   PMID:35271311   PMID:35317099   PMID:35563538   PMID:35575683   PMID:35696571   PMID:36215168   PMID:36574265   PMID:37433992   PMID:37801286   PMID:39199364  


Genomics

Comparative Map Data
PXDN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3821,631,887 - 1,744,901 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl21,631,887 - 1,744,852 (-)EnsemblGRCh38hg38GRCh38
GRCh3721,635,659 - 1,748,287 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3621,614,666 - 1,727,298 (-)NCBINCBI36Build 36hg18NCBI36
Celera21,683,129 - 1,795,627 (-)NCBICelera
Cytogenetic Map2p25.3NCBI
HuRef21,647,904 - 1,732,959 (-)NCBIHuRef
HuRef21,620,535 - 1,643,248 (-)NCBIHuRef
CHM1_121,634,784 - 1,746,414 (-)NCBICHM1_1
T2T-CHM13v2.021,639,438 - 1,752,655 (-)NCBIT2T-CHM13v2.0
Pxdn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391229,986,641 - 30,067,657 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1229,987,607 - 30,067,657 (+)EnsemblGRCm39 Ensembl
GRCm381229,936,642 - 30,017,658 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1229,937,608 - 30,017,658 (+)EnsemblGRCm38mm10GRCm38
MGSCv371230,622,901 - 30,702,523 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361230,524,088 - 30,601,911 (+)NCBIMGSCv36mm8
Celera1231,402,408 - 31,481,125 (+)NCBICelera
Cytogenetic Map12A2NCBI
cM Map1213.0NCBI
Pxdn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8652,308,347 - 52,385,943 (+)NCBIGRCr8
mRatBN7.2646,580,749 - 46,658,345 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl646,580,761 - 46,658,345 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx646,885,655 - 46,963,375 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0647,200,514 - 47,278,235 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0646,635,789 - 46,713,515 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0648,866,496 - 48,982,368 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl648,866,601 - 48,980,340 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0657,551,559 - 57,663,427 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4647,878,710 - 47,914,112 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera645,788,867 - 45,866,653 (+)NCBICelera
Cytogenetic Map6q16NCBI
Pxdn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554874,867,427 - 4,936,522 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554874,867,427 - 4,936,454 (+)NCBIChiLan1.0ChiLan1.0
PXDN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v212124,835,483 - 124,950,905 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A124,839,523 - 124,954,891 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A1,584,901 - 1,699,675 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A1,582,193 - 1,692,033 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A1,582,193 - 1,692,033 (-)Ensemblpanpan1.1panPan2
PXDN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.117834,625 - 891,551 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl17836,434 - 875,117 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha17820,928 - 893,012 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.017891,462 - 963,316 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl17891,465 - 963,674 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.117815,290 - 886,751 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.017835,515 - 907,091 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.017835,194 - 908,255 (-)NCBIUU_Cfam_GSD_1.0
Pxdn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629245,707,461 - 45,788,503 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936532462,429 - 543,555 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936532462,507 - 543,549 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PXDN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3132,306,447 - 132,362,841 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13132,306,288 - 132,362,853 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23141,717,174 - 141,773,576 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PXDN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.114105,936,992 - 106,060,582 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl14105,937,198 - 106,060,584 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660455,934,694 - 6,046,338 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pxdn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248466,259,765 - 6,331,100 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248466,259,807 - 6,329,849 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PXDN
421 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012293.3(PXDN):c.1018+9C>T single nucleotide variant Anterior segment dysgenesis 7 [RCV000551245]|not provided [RCV004714059] Chr2:1673634 [GRCh38]
Chr2:1677406 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.4342G>A (p.Val1448Met) single nucleotide variant Anterior segment dysgenesis 7 [RCV000547012] Chr2:1634302 [GRCh38]
Chr2:1638074 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1113G>A (p.Pro371=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000526807]|not provided [RCV004715286] Chr2:1666392 [GRCh38]
Chr2:1670164 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.848+79C>A single nucleotide variant not provided [RCV001544803] Chr2:1676848 [GRCh38]
Chr2:1680620 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.848+79C>T single nucleotide variant not provided [RCV001571082] Chr2:1676848 [GRCh38]
Chr2:1680620 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh38/hg38 2p25.3-24.3(chr2:30141-14494040)x3 copy number gain See cases [RCV000052928] Chr2:30141..14494040 [GRCh38]
Chr2:30141..14634164 [GRCh37]
Chr2:20141..14551615 [NCBI36]
Chr2:2p25.3-24.3		 pathogenic
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1		 pathogenic
GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3 copy number gain See cases [RCV000052931] Chr2:30342..14866951 [GRCh38]
Chr2:30342..15007075 [GRCh37]
Chr2:20342..14924526 [NCBI36]
Chr2:2p25.3-24.3		 pathogenic
GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3 copy number gain See cases [RCV000052932] Chr2:50661..9652907 [GRCh38]
Chr2:50661..9793036 [GRCh37]
Chr2:40661..9710487 [NCBI36]
Chr2:2p25.3-25.1		 pathogenic
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 2p25.3(chr2:1110952-1699889)x3 copy number gain See cases [RCV000052598] Chr2:1110952..1699889 [GRCh38]
Chr2:1106638..1703661 [GRCh37]
Chr2:1096638..1682668 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3(chr2:50661-3293835)x1 copy number loss See cases [RCV000053977] Chr2:50661..3293835 [GRCh38]
Chr2:50661..3297606 [GRCh37]
Chr2:40661..3276613 [NCBI36]
Chr2:2p25.3		 pathogenic
NM_012293.2(PXDN):c.1681-81T>C single nucleotide variant Lung cancer [RCV000091633] Chr2:1661118 [GRCh38]
Chr2:1664890 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.2(PXDN):c.201-21637T>G single nucleotide variant Lung cancer [RCV000091660] Chr2:1714771 [GRCh38]
Chr2:1718543 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3190G>A (p.Ala1064Thr) single nucleotide variant Anterior segment dysgenesis 7 [RCV000648995]|Developmental cataract [RCV000203349]|PXDN-related disorder [RCV003907752]|not provided [RCV001610521] Chr2:1648590 [GRCh38]
Chr2:1652362 [GRCh37]
Chr2:2p25.3		 likely pathogenic|benign|likely benign
NM_012293.3(PXDN):c.2568del (p.Cys857fs) deletion Anterior segment dysgenesis 7 [RCV000128853] Chr2:1649212 [GRCh38]
Chr2:1652984 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.2638C>T (p.Arg880Cys) single nucleotide variant Anterior segment dysgenesis 7 [RCV000128854] Chr2:1649142 [GRCh38]
Chr2:1652914 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.1021C>T (p.Arg341Ter) single nucleotide variant Anterior segment dysgenesis 7 [RCV000128855] Chr2:1666484 [GRCh38]
Chr2:1670256 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.2375_2397del (p.Leu792fs) deletion Anterior segment dysgenesis 7 [RCV000128856] Chr2:1649383..1649405 [GRCh38]
Chr2:1653155..1653177 [GRCh37]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3-25.2(chr2:30341-4932359)x3 copy number gain See cases [RCV000133936] Chr2:30341..4932359 [GRCh38]
Chr2:30341..4979949 [GRCh37]
Chr2:20341..4957824 [NCBI36]
Chr2:2p25.3-25.2		 pathogenic
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2		 pathogenic
GRCh38/hg38 2p25.3(chr2:30341-1969402)x1 copy number loss See cases [RCV000135569] Chr2:30341..1969402 [GRCh38]
Chr2:30341..1973174 [GRCh37]
Chr2:20341..1952181 [NCBI36]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:30341-3449132)x1 copy number loss See cases [RCV000135536] Chr2:30341..3449132 [GRCh38]
Chr2:30341..3452903 [GRCh37]
Chr2:20341..3431910 [NCBI36]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:30341-2656139)x1 copy number loss See cases [RCV000137250] Chr2:30341..2656139 [GRCh38]
Chr2:30341..2659911 [GRCh37]
Chr2:20341..2638918 [NCBI36]
Chr2:2p25.3		 pathogenic|likely benign
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:17019-1645317)x1 copy number loss See cases [RCV000137954] Chr2:17019..1645317 [GRCh38]
Chr2:17019..1649089 [GRCh37]
Chr2:7019..1628096 [NCBI36]
Chr2:2p25.3		 likely pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3 copy number gain See cases [RCV000137913] Chr2:1664615..23664142 [GRCh38]
Chr2:1668387..23887012 [GRCh37]
Chr2:1647394..23740517 [NCBI36]
Chr2:2p25.3-24.1		 pathogenic|likely pathogenic
GRCh38/hg38 2p25.3(chr2:17019-2305267)x1 copy number loss See cases [RCV000141392] Chr2:17019..2305267 [GRCh38]
Chr2:17019..2309039 [GRCh37]
Chr2:7019..2288046 [NCBI36]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:1110952-1714227)x3 copy number gain See cases [RCV000141323] Chr2:1110952..1714227 [GRCh38]
Chr2:1106638..1717999 [GRCh37]
Chr2:1096638..1697006 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3 copy number gain See cases [RCV000141226] Chr2:17019..20001056 [GRCh38]
Chr2:17019..20200817 [GRCh37]
Chr2:7019..20064298 [NCBI36]
Chr2:2p25.3-24.1		 pathogenic
GRCh38/hg38 2p25.3(chr2:12770-2310816)x1 copy number loss See cases [RCV000140900] Chr2:12770..2310816 [GRCh38]
Chr2:12770..2314588 [GRCh37]
Chr2:2770..2293595 [NCBI36]
Chr2:2p25.3		 likely pathogenic
GRCh38/hg38 2p25.3-25.2(chr2:17019-4957745)x3 copy number gain See cases [RCV000140981] Chr2:17019..4957745 [GRCh38]
Chr2:17019..5005335 [GRCh37]
Chr2:7019..4983210 [NCBI36]
Chr2:2p25.3-25.2		 likely pathogenic
GRCh38/hg38 2p25.3(chr2:1614809-1844295)x3 copy number gain See cases [RCV000141066] Chr2:1614809..1844295 [GRCh38]
Chr2:1618581..1848067 [GRCh37]
Chr2:1597588..1827074 [NCBI36]
Chr2:2p25.3		 likely benign
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 copy number gain See cases [RCV000141877] Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:12770-2748672)x1 copy number loss See cases [RCV000141849] Chr2:12770..2748672 [GRCh38]
Chr2:12770..2752444 [GRCh37]
Chr2:2770..2731451 [NCBI36]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:888150-1784776)x3 copy number gain See cases [RCV000141613] Chr2:888150..1784776 [GRCh38]
Chr2:883836..1788548 [GRCh37]
Chr2:873836..1767555 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3(chr2:131730-2713517)x1 copy number loss See cases [RCV000142884] Chr2:131730..2713517 [GRCh38]
Chr2:131730..2717289 [GRCh37]
Chr2:121730..2696296 [NCBI36]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3-25.2(chr2:30341-4642399)x3 copy number gain See cases [RCV000142735] Chr2:30341..4642399 [GRCh38]
Chr2:30341..4689989 [GRCh37]
Chr2:20341..4667864 [NCBI36]
Chr2:2p25.3-25.2		 pathogenic
GRCh38/hg38 2p25.3(chr2:12770-4318861)x3 copy number gain See cases [RCV000143781] Chr2:12770..4318861 [GRCh38]
Chr2:12770..4366451 [GRCh37]
Chr2:2770..4344326 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
NM_012293.3(PXDN):c.1380G>A (p.Pro460=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000547461]|not provided [RCV004714060] Chr2:1664986 [GRCh38]
Chr2:1668758 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.4088G>A (p.Gly1363Glu) single nucleotide variant Anterior segment dysgenesis 7 [RCV000878628]|not provided [RCV001573569]|not specified [RCV000246132] Chr2:1638964 [GRCh38]
Chr2:1642736 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.2661C>T (p.Ser887=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000540181]|not provided [RCV000828291]|not specified [RCV000248542] Chr2:1649119 [GRCh38]
Chr2:1652891 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.4124C>T (p.Thr1375Ile) single nucleotide variant Anterior segment dysgenesis 7 [RCV000878627]|not provided [RCV001589266]|not specified [RCV000250870] Chr2:1638928 [GRCh38]
Chr2:1642700 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.2730A>C (p.Ile910=) single nucleotide variant Anterior segment dysgenesis 7 [RCV001517603]|not provided [RCV000827828]|not specified [RCV000253320] Chr2:1649050 [GRCh38]
Chr2:1652822 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1946+6G>A single nucleotide variant Anterior segment dysgenesis 7 [RCV000528170]|not provided [RCV001683065]|not specified [RCV000243789] Chr2:1654394 [GRCh38]
Chr2:1658166 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.3921A>G (p.Val1307=) single nucleotide variant Anterior segment dysgenesis 7 [RCV001517602]|not provided [RCV000836692]|not specified [RCV000251142] Chr2:1643399 [GRCh38]
Chr2:1647171 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.3850G>T (p.Val1284Leu) single nucleotide variant Anterior segment dysgenesis 7 [RCV001515387]|not provided [RCV001709547]|not specified [RCV000246407] Chr2:1643470 [GRCh38]
Chr2:1647242 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1568-19C>G single nucleotide variant Anterior segment dysgenesis 7 [RCV002058233]|not provided [RCV001668528]|not specified [RCV000248845] Chr2:1662203 [GRCh38]
Chr2:1665975 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1239T>C (p.Ser413=) single nucleotide variant not specified [RCV000244071] Chr2:1666266 [GRCh38]
Chr2:1670038 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1836T>C (p.Asn612=) single nucleotide variant Anterior segment dysgenesis 7 [RCV001517604]|not provided [RCV000836691]|not specified [RCV000251977] Chr2:1660882 [GRCh38]
Chr2:1664654 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.3953-14T>C single nucleotide variant Anterior segment dysgenesis 7 [RCV001795456]|not provided [RCV001618445]|not specified [RCV000254309] Chr2:1639436 [GRCh38]
Chr2:1639436..1639437 [GRCh38]
Chr2:1643208 [GRCh37]
Chr2:1643208..1643209 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.*1G>T single nucleotide variant not specified [RCV000252289] Chr2:1634203 [GRCh38]
Chr2:1637975 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.2892C>T (p.Asn964=) single nucleotide variant Anterior segment dysgenesis 7 [RCV001515388]|not provided [RCV000836022]|not specified [RCV000245121] Chr2:1648888 [GRCh38]
Chr2:1652660 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.3198C>T (p.Ala1066=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000553586]|not provided [RCV001546267]|not specified [RCV000252963] Chr2:1648582 [GRCh38]
Chr2:1652354 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.3093C>T (p.Tyr1031=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000541552]|not provided [RCV000828292]|not specified [RCV000248199] Chr2:1648687 [GRCh38]
Chr2:1652459 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.200+200G>C single nucleotide variant not provided [RCV001567746] Chr2:1744056 [GRCh38]
Chr2:1747828 [GRCh37]
Chr2:2p25.3		 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_012293.3(PXDN):c.2821G>A (p.Val941Met) single nucleotide variant Anterior segment dysgenesis 7 [RCV000552816] Chr2:1648959 [GRCh38]
Chr2:1652731 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1182T>C (p.Ser394=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000539409]|not provided [RCV001672843] Chr2:1666323 [GRCh38]
Chr2:1670095 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.4126C>T (p.Arg1376Cys) single nucleotide variant Inborn genetic diseases [RCV004668974]|not provided [RCV000441958] Chr2:1638926 [GRCh38]
Chr2:1642698 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1741827-1854242)x3 copy number gain See cases [RCV000448951] Chr2:1741827..1854242 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:528352-2564992)x1 copy number loss Intellectual disability, autosomal dominant 39 [RCV000448420] Chr2:528352..2564992 [GRCh37]
Chr2:2p25.3		 pathogenic|uncertain significance
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_012293.3(PXDN):c.2789C>T (p.Ala930Val) single nucleotide variant not provided [RCV000494371] Chr2:1648991 [GRCh38]
Chr2:1652763 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1383123-1812894)x3 copy number gain See cases [RCV000511525] Chr2:1383123..1812894 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3 copy number gain See cases [RCV000510934] Chr2:12770..20081474 [GRCh37]
Chr2:2p25.3-24.1		 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_012293.3(PXDN):c.2992A>G (p.Ile998Val) single nucleotide variant Inborn genetic diseases [RCV003255785] Chr2:1648788 [GRCh38]
Chr2:1652560 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3593G>A (p.Arg1198Gln) single nucleotide variant Anterior segment dysgenesis 7 [RCV000529734]|not provided [RCV001683579] Chr2:1648187 [GRCh38]
Chr2:1651959 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.395G>A (p.Gly132Glu) single nucleotide variant Inborn genetic diseases [RCV003253743] Chr2:1687653 [GRCh38]
Chr2:1691425 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3724C>T (p.Arg1242Cys) single nucleotide variant Inborn genetic diseases [RCV003300704] Chr2:1644637 [GRCh38]
Chr2:1648409 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.215A>G (p.Asn72Ser) single nucleotide variant Inborn genetic diseases [RCV003241049] Chr2:1693120 [GRCh38]
Chr2:1696892 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2827C>T (p.Arg943Trp) single nucleotide variant Anterior segment dysgenesis 7 [RCV000533505]|Inborn genetic diseases [RCV002530180]|PXDN-related disorder [RCV003905423]|not provided [RCV001546804] Chr2:1648953 [GRCh38]
Chr2:1652725 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_012293.3(PXDN):c.831C>A (p.Ile277=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000558985] Chr2:1676944 [GRCh38]
Chr2:1680716 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.2394G>A (p.Val798=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000648994] Chr2:1649386 [GRCh38]
Chr2:1653158 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:1544765-1959942)x3 copy number gain not provided [RCV000682072] Chr2:1544765..1959942 [GRCh37]
Chr2:2p25.3		 likely pathogenic
GRCh37/hg19 2p25.3(chr2:1611691-1861548)x3 copy number gain not provided [RCV000682044] Chr2:1611691..1861548 [GRCh37]
Chr2:2p25.3		 likely pathogenic
GRCh37/hg19 2p25.3(chr2:1252376-1865090)x3 copy number gain not provided [RCV000682092] Chr2:1252376..1865090 [GRCh37]
Chr2:2p25.3		 likely pathogenic|uncertain significance
GRCh37/hg19 2p25.3(chr2:995005-1670069)x3 copy number gain not provided [RCV000682098] Chr2:995005..1670069 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3-25.2(chr2:12770-4823625)x3 copy number gain not provided [RCV000682156] Chr2:12770..4823625 [GRCh37]
Chr2:2p25.3-25.2		 pathogenic
GRCh37/hg19 2p25.3(chr2:1734538-2303645)x3 copy number gain not provided [RCV000682087] Chr2:1734538..2303645 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_012293.3(PXDN):c.1657G>A (p.Glu553Lys) single nucleotide variant Anterior segment dysgenesis 7 [RCV000690726]|not provided [RCV001756177] Chr2:1662095 [GRCh38]
Chr2:1665867 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3655G>T (p.Val1219Leu) single nucleotide variant Anterior segment dysgenesis 7 [RCV000688037]|Inborn genetic diseases [RCV002544794] Chr2:1644706 [GRCh38]
Chr2:1648478 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1680+6C>T single nucleotide variant Anterior segment dysgenesis 7 [RCV000696114] Chr2:1662066 [GRCh38]
Chr2:1665838 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1964A>T (p.Asn655Ile) single nucleotide variant Anterior segment dysgenesis 7 [RCV000705516] Chr2:1653768 [GRCh38]
Chr2:1657540 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:658937-2456024)x3 copy number gain not provided [RCV000752815] Chr2:658937..2456024 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:1706794-1708472)x1 copy number loss not provided [RCV000752825] Chr2:1706794..1708472 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1408+164T>C single nucleotide variant Anterior segment dysgenesis 7 [RCV001544242]|not provided [RCV001619965] Chr2:1664794 [GRCh38]
Chr2:1668566 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.*328A>G single nucleotide variant not provided [RCV001539498] Chr2:1633876 [GRCh38]
Chr2:1637648 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.489-154del deletion not provided [RCV001571179] Chr2:1683881 [GRCh38]
Chr2:1687653 [GRCh37]
Chr2:2p25.3		 likely benign
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
NM_012293.3(PXDN):c.3744-181T>G single nucleotide variant not provided [RCV001583090] Chr2:1643757 [GRCh38]
Chr2:1647529 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.200+295T>G single nucleotide variant not provided [RCV001707189] Chr2:1743961 [GRCh38]
Chr2:1747733 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.200+131T>C single nucleotide variant not provided [RCV001665605] Chr2:1744125 [GRCh38]
Chr2:1747897 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.4074-105_4074-54del deletion not provided [RCV001665700] Chr2:1639032..1639083 [GRCh38]
Chr2:1642804..1642855 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.4320+120T>C single nucleotide variant not provided [RCV001666102] Chr2:1635288 [GRCh38]
Chr2:1639060 [GRCh37]
Chr2:2p25.3		 benign
NC_000002.12:g.1744762C>T single nucleotide variant not provided [RCV001584610] Chr2:1744762 [GRCh38]
Chr2:1748534 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.730+42C>A single nucleotide variant not provided [RCV001646053] Chr2:1680151 [GRCh38]
Chr2:1683923 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1947-287C>T single nucleotide variant not provided [RCV001707989] Chr2:1654072 [GRCh38]
Chr2:1657844 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.3609-311G>A single nucleotide variant not provided [RCV001610105] Chr2:1645063 [GRCh38]
Chr2:1648835 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.273-245C>T single nucleotide variant not provided [RCV001708105] Chr2:1692244 [GRCh38]
Chr2:1696016 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1837+161G>A single nucleotide variant not provided [RCV001668804] Chr2:1660720 [GRCh38]
Chr2:1664492 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.416+158G>A single nucleotide variant not provided [RCV001565533] Chr2:1687474 [GRCh38]
Chr2:1691246 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.4206+81A>G single nucleotide variant Anterior segment dysgenesis 7 [RCV001544238]|not provided [RCV001713013] Chr2:1638765 [GRCh38]
Chr2:1642537 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1568-4C>T single nucleotide variant not provided [RCV000897133] Chr2:1662188 [GRCh38]
Chr2:1665960 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1291+143C>G single nucleotide variant not provided [RCV001566574] Chr2:1666071 [GRCh38]
Chr2:1669843 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.200+150T>C single nucleotide variant not provided [RCV001574659] Chr2:1744106 [GRCh38]
Chr2:1747878 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1291+267A>G single nucleotide variant not provided [RCV001547675] Chr2:1665947 [GRCh38]
Chr2:1669719 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.561-54G>C single nucleotide variant not provided [RCV001583423] Chr2:1680416 [GRCh38]
Chr2:1684188 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1A>G (p.Met1Val) single nucleotide variant Anterior segment dysgenesis 7 [RCV000993698] Chr2:1744455 [GRCh38]
Chr2:1748227 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.4206+165A>G single nucleotide variant not provided [RCV001645851] Chr2:1638681 [GRCh38]
Chr2:1642453 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.3953-46G>T single nucleotide variant not provided [RCV001572592] Chr2:1639468 [GRCh38]
Chr2:1643240 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:12770-3000954)x1 copy number loss not provided [RCV001005218] Chr2:12770..3000954 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.4321-197A>G single nucleotide variant not provided [RCV001546228] Chr2:1634520 [GRCh38]
Chr2:1638292 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.4207-116C>T single nucleotide variant not provided [RCV001552236] Chr2:1635637 [GRCh38]
Chr2:1639409 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1568-240C>T single nucleotide variant not provided [RCV001567848] Chr2:1662424 [GRCh38]
Chr2:1666196 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.4320+254A>G single nucleotide variant not provided [RCV001724571] Chr2:1635154 [GRCh38]
Chr2:1638926 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.4321-240C>T single nucleotide variant not provided [RCV001575841] Chr2:1634563 [GRCh38]
Chr2:1638335 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1408+179T>C single nucleotide variant not provided [RCV001666570] Chr2:1664779 [GRCh38]
Chr2:1668551 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.4320+223C>G single nucleotide variant not provided [RCV001568830] Chr2:1635185 [GRCh38]
Chr2:1638957 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.481G>A (p.Glu161Lys) single nucleotide variant Anterior segment dysgenesis 7 [RCV000950321]|not provided [RCV003884822] Chr2:1684087 [GRCh38]
Chr2:1687859 [GRCh37]
Chr2:2p25.3		 benign|uncertain significance
NM_012293.3(PXDN):c.1112C>T (p.Pro371Leu) single nucleotide variant Anterior segment dysgenesis 7 [RCV000950335]|PXDN-related disorder [RCV003970709]|not provided [RCV001556898] Chr2:1666393 [GRCh38]
Chr2:1670165 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_012293.3(PXDN):c.3138G>A (p.Thr1046=) single nucleotide variant Anterior segment dysgenesis 7 [RCV002539269]|not provided [RCV004714146] Chr2:1648642 [GRCh38]
Chr2:1652414 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.488+8G>C single nucleotide variant Anterior segment dysgenesis 7 [RCV000878613]|PXDN-related disorder [RCV003920474] Chr2:1684072 [GRCh38]
Chr2:1687844 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.474G>A (p.Pro158=) single nucleotide variant not provided [RCV000929308] Chr2:1684094 [GRCh38]
Chr2:1687866 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3411G>A (p.Thr1137=) single nucleotide variant PXDN-related disorder [RCV004753140]|not provided [RCV000958772] Chr2:1648369 [GRCh38]
Chr2:1652141 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.2592C>T (p.Pro864=) single nucleotide variant Anterior segment dysgenesis 7 [RCV001470126] Chr2:1649188 [GRCh38]
Chr2:1652960 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.2370C>T (p.His790=) single nucleotide variant not provided [RCV000923282] Chr2:1649410 [GRCh38]
Chr2:1653182 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1805C>T (p.Ser602Leu) single nucleotide variant Anterior segment dysgenesis 7 [RCV000877799]|not provided [RCV001568752] Chr2:1660913 [GRCh38]
Chr2:1664685 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.2787G>A (p.Leu929=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000946159]|PXDN-related disorder [RCV003925863] Chr2:1648993 [GRCh38]
Chr2:1652765 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3483G>T (p.Arg1161=) single nucleotide variant Anterior segment dysgenesis 7 [RCV001434106] Chr2:1648297 [GRCh38]
Chr2:1652069 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3411G>T (p.Thr1137=) single nucleotide variant not provided [RCV000926076] Chr2:1648369 [GRCh38]
Chr2:1652141 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.612G>A (p.Ala204=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000904472] Chr2:1680311 [GRCh38]
Chr2:1684083 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3633C>T (p.Ile1211=) single nucleotide variant not provided [RCV000966590] Chr2:1644728 [GRCh38]
Chr2:1648500 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1347C>T (p.Thr449=) single nucleotide variant Anterior segment dysgenesis 7 [RCV001517385] Chr2:1665019 [GRCh38]
Chr2:1668791 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.4029G>A (p.Gln1343=) single nucleotide variant not provided [RCV000906340] Chr2:1639346 [GRCh38]
Chr2:1643118 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.921A>G (p.Thr307=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000878008]|PXDN-related disorder [RCV003938386] Chr2:1673740 [GRCh38]
Chr2:1677512 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1899G>A (p.Ala633=) single nucleotide variant not provided [RCV000923409] Chr2:1654447 [GRCh38]
Chr2:1658219 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.648G>A (p.Ala216=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000945493]|not provided [RCV004714159] Chr2:1680275 [GRCh38]
Chr2:1684047 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.2313C>T (p.Tyr771=) single nucleotide variant Anterior segment dysgenesis 7 [RCV003584775] Chr2:1649467 [GRCh38]
Chr2:1653239 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.4293A>G (p.Lys1431=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000877798]|not provided [RCV001615074] Chr2:1635435 [GRCh38]
Chr2:1639207 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1242G>A (p.Ala414=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000877859]|not provided [RCV001593116] Chr2:1666263 [GRCh38]
Chr2:1670035 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.3876G>A (p.Ala1292=) single nucleotide variant Anterior segment dysgenesis 7 [RCV003746566] Chr2:1643444 [GRCh38]
Chr2:1647216 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3987C>G (p.Ser1329=) single nucleotide variant not provided [RCV000925259] Chr2:1639388 [GRCh38]
Chr2:1643160 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3396G>A (p.Ser1132=) single nucleotide variant not provided [RCV000924223] Chr2:1648384 [GRCh38]
Chr2:1652156 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.270A>G (p.Thr90=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000945589]|not provided [RCV003226988] Chr2:1693065 [GRCh38]
Chr2:1696837 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.2271C>T (p.Gly757=) single nucleotide variant not provided [RCV000920987] Chr2:1649509 [GRCh38]
Chr2:1653281 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.4341C>T (p.Phe1447=) single nucleotide variant Anterior segment dysgenesis 7 [RCV003768743]|not provided [RCV004714145] Chr2:1634303 [GRCh38]
Chr2:1638075 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1392C>T (p.Ile464=) single nucleotide variant Anterior segment dysgenesis 7 [RCV001512739]|not provided [RCV004715350] Chr2:1664974 [GRCh38]
Chr2:1668746 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.969C>T (p.Ala323=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000969808]|not provided [RCV001729770] Chr2:1673692 [GRCh38]
Chr2:1677464 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.3621G>T (p.Ser1207=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000878342]|not provided [RCV001619858] Chr2:1644740 [GRCh38]
Chr2:1648512 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1272C>T (p.Thr424=) single nucleotide variant not provided [RCV000923797] Chr2:1666233 [GRCh38]
Chr2:1670005 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1443C>A (p.Val481=) single nucleotide variant Anterior segment dysgenesis 7 [RCV002065996] Chr2:1663729 [GRCh38]
Chr2:1667501 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.31C>T (p.Arg11Cys) single nucleotide variant Anterior segment dysgenesis 7 [RCV001040985] Chr2:1744425 [GRCh38]
Chr2:1748197 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2283C>T (p.Thr761=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000878113] Chr2:1649497 [GRCh38]
Chr2:1653269 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.3291C>A (p.Pro1097=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000878189]|PXDN-related disorder [RCV003908359]|not provided [RCV001593120] Chr2:1648489 [GRCh38]
Chr2:1652261 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.1233G>A (p.Ala411=) single nucleotide variant not provided [RCV000910212] Chr2:1666272 [GRCh38]
Chr2:1670044 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1422C>T (p.Ser474=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000945730] Chr2:1663750 [GRCh38]
Chr2:1667522 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3513C>T (p.His1171=) single nucleotide variant not provided [RCV000905604] Chr2:1648267 [GRCh38]
Chr2:1652039 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.4437C>T (p.Pro1479=) single nucleotide variant Anterior segment dysgenesis 7 [RCV002066440]|PXDN-related disorder [RCV003953332]|not provided [RCV000973848] Chr2:1634207 [GRCh38]
Chr2:1637979 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.3045C>T (p.Tyr1015=) single nucleotide variant not provided [RCV000916291] Chr2:1648735 [GRCh38]
Chr2:1652507 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3621G>A (p.Ser1207=) single nucleotide variant not provided [RCV000915583] Chr2:1644740 [GRCh38]
Chr2:1648512 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3147G>A (p.Glu1049=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000900156] Chr2:1648633 [GRCh38]
Chr2:1652405 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1176G>T (p.Thr392=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000878581]|not provided [RCV001562515] Chr2:1666329 [GRCh38]
Chr2:1670101 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.1617C>T (p.Gly539=) single nucleotide variant not provided [RCV000893960] Chr2:1662135 [GRCh38]
Chr2:1665907 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1596C>T (p.Ser532=) single nucleotide variant Anterior segment dysgenesis 7 [RCV003584777]|PXDN-related disorder [RCV003950538] Chr2:1662156 [GRCh38]
Chr2:1665928 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3642T>C (p.Phe1214=) single nucleotide variant Anterior segment dysgenesis 7 [RCV001496652]|PXDN-related disorder [RCV003895414] Chr2:1644719 [GRCh38]
Chr2:1648491 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.273G>A (p.Leu91=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000878005]|not provided [RCV004715349] Chr2:1691999 [GRCh38]
Chr2:1695771 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1495C>G (p.Gln499Glu) single nucleotide variant not provided [RCV000878100] Chr2:1663677 [GRCh38]
Chr2:1667449 [GRCh37]
Chr2:2p25.3		 likely benign|conflicting interpretations of pathogenicity
NM_012293.3(PXDN):c.2640C>G (p.Arg880=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000951615]|not provided [RCV001555478] Chr2:1649140 [GRCh38]
Chr2:1652912 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.3906C>T (p.Asp1302=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000951642]|not provided [RCV001530712] Chr2:1643414 [GRCh38]
Chr2:1647186 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1656C>T (p.Pro552=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000951924]|PXDN-related disorder [RCV003935781] Chr2:1662096 [GRCh38]
Chr2:1665868 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.19G>T (p.Gly7Cys) single nucleotide variant Anterior segment dysgenesis 7 [RCV000877874]|PXDN-related disorder [RCV003908351]|not provided [RCV001593117] Chr2:1744437 [GRCh38]
Chr2:1748209 [GRCh37]
Chr2:2p25.3		 likely benign|conflicting interpretations of pathogenicity
NM_012293.3(PXDN):c.657G>A (p.Ala219=) single nucleotide variant Anterior segment dysgenesis 7 [RCV001394068]|not provided [RCV004711430] Chr2:1680266 [GRCh38]
Chr2:1684038 [GRCh37]
Chr2:2p25.3		 likely benign
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 2p25.3(chr2:12770-2348876)x1 copy number loss not provided [RCV000848970] Chr2:12770..2348876 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.2459A>G (p.Gln820Arg) single nucleotide variant Anterior segment dysgenesis [RCV000786020] Chr2:1649321 [GRCh38]
Chr2:1653093 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_012293.3(PXDN):c.4216_4225dup (p.Arg1409delinsProTer) duplication Anterior segment dysgenesis 7 [RCV000993695] Chr2:1635502..1635503 [GRCh38]
Chr2:1639274..1639275 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.693_697dup (p.Val233fs) duplication Anterior segment dysgenesis 7 [RCV000993697] Chr2:1680225..1680226 [GRCh38]
Chr2:1683997..1683998 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.1272C>G (p.Thr424=) single nucleotide variant not provided [RCV000915728] Chr2:1666233 [GRCh38]
Chr2:1670005 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1498T>C (p.Tyr500His) single nucleotide variant Anterior segment dysgenesis 7 [RCV000817075] Chr2:1663674 [GRCh38]
Chr2:1667446 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3660G>A (p.Glu1220=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000981495] Chr2:1644701 [GRCh38]
Chr2:1648473 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.777G>A (p.Ser259=) single nucleotide variant not provided [RCV000979676] Chr2:1676998 [GRCh38]
Chr2:1680770 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:843845-1862481)x3 copy number gain not provided [RCV000846011] Chr2:843845..1862481 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1741827-1850859)x3 copy number gain not provided [RCV000849259] Chr2:1741827..1850859 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:12770-3819558)x3 copy number gain not provided [RCV000846909] Chr2:12770..3819558 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:959840-1655144)x3 copy number gain not provided [RCV001005220] Chr2:959840..1655144 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3 copy number gain not provided [RCV000847256] Chr2:12770..7502796 [GRCh37]
Chr2:2p25.3-25.1		 pathogenic
GRCh37/hg19 2p25.3(chr2:1364047-1727590)x3 copy number gain not provided [RCV001005222] Chr2:1364047..1727590 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:1544733-1802661)x4 copy number gain not provided [RCV000847500] Chr2:1544733..1802661 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:12770-2832894)x1 copy number loss not provided [RCV000846709] Chr2:12770..2832894 [GRCh37]
Chr2:2p25.3		 pathogenic
GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3 copy number gain not provided [RCV000847257] Chr2:12770..7502796 [GRCh37]
Chr2:2p25.3-25.1		 pathogenic
NM_012293.3(PXDN):c.4104C>G (p.Asn1368Lys) single nucleotide variant Inborn genetic diseases [RCV003291377] Chr2:1638948 [GRCh38]
Chr2:1642720 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2276C>T (p.Ser759Leu) single nucleotide variant Anterior segment dysgenesis 7 [RCV000993694] Chr2:1649504 [GRCh38]
Chr2:1653276 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.4320+58A>G single nucleotide variant not provided [RCV001641398] Chr2:1635350 [GRCh38]
Chr2:1639122 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.489-154A>C single nucleotide variant not provided [RCV001568448] Chr2:1683881 [GRCh38]
Chr2:1687653 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.417-194T>G single nucleotide variant not provided [RCV001581447] Chr2:1684345 [GRCh38]
Chr2:1688117 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.561-113C>T single nucleotide variant not provided [RCV001565348] Chr2:1680475 [GRCh38]
Chr2:1684247 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1567+67C>T single nucleotide variant Anterior segment dysgenesis 7 [RCV001544241]|not provided [RCV001615275] Chr2:1663538 [GRCh38]
Chr2:1667310 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.344+246G>C single nucleotide variant not provided [RCV001566597] Chr2:1691682 [GRCh38]
Chr2:1695454 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3952+137G>A single nucleotide variant not provided [RCV001552085] Chr2:1643231 [GRCh38]
Chr2:1647003 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.2104+56C>T single nucleotide variant not provided [RCV001570869] Chr2:1653572 [GRCh38]
Chr2:1657344 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.4320+220del deletion not provided [RCV001658538] Chr2:1635188 [GRCh38]
Chr2:1638960 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.200+202T>C single nucleotide variant not provided [RCV001678232] Chr2:1744054 [GRCh38]
Chr2:1747826 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.730+113A>G single nucleotide variant not provided [RCV001575972] Chr2:1680080 [GRCh38]
Chr2:1683852 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.200+144G>C single nucleotide variant not provided [RCV001720853] Chr2:1744112 [GRCh38]
Chr2:1747884 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.4206+62C>T single nucleotide variant not provided [RCV001560931] Chr2:1638784 [GRCh38]
Chr2:1642556 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.848+154C>T single nucleotide variant not provided [RCV001561082] Chr2:1676773 [GRCh38]
Chr2:1680545 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.4207-53C>T single nucleotide variant not provided [RCV001591610] Chr2:1635574 [GRCh38]
Chr2:1639346 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.560+162A>T single nucleotide variant not provided [RCV001721676] Chr2:1683494 [GRCh38]
Chr2:1687266 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.3743+135T>A single nucleotide variant not provided [RCV001663088] Chr2:1644483 [GRCh38]
Chr2:1648255 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.4073+50C>T single nucleotide variant not provided [RCV001556884] Chr2:1639252 [GRCh38]
Chr2:1643024 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.417-142G>T single nucleotide variant not provided [RCV001680151] Chr2:1684293 [GRCh38]
Chr2:1688065 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.345-235G>A single nucleotide variant not provided [RCV001551125] Chr2:1687938 [GRCh38]
Chr2:1691710 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.730+250C>T single nucleotide variant not provided [RCV001562664] Chr2:1679943 [GRCh38]
Chr2:1683715 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1018+306C>A single nucleotide variant not provided [RCV001656226] Chr2:1673337 [GRCh38]
Chr2:1677109 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.773C>T (p.Thr258Ile) single nucleotide variant not provided [RCV001700595] Chr2:1677002 [GRCh38]
Chr2:1680774 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.489-163del deletion not provided [RCV001616212] Chr2:1683890 [GRCh38]
Chr2:1687662 [GRCh37]
Chr2:2p25.3		 benign
NC_000002.12:g.1744782G>A single nucleotide variant not provided [RCV001575422] Chr2:1744782 [GRCh38]
Chr2:1748554 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.4206+73G>C single nucleotide variant Anterior segment dysgenesis 7 [RCV001544240]|not provided [RCV001709735] Chr2:1638773 [GRCh38]
Chr2:1642545 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.*158C>T single nucleotide variant not provided [RCV001552001] Chr2:1634046 [GRCh38]
Chr2:1637818 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.848+201C>T single nucleotide variant not provided [RCV001670515] Chr2:1676726 [GRCh38]
Chr2:1680498 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1121C>T (p.Ser374Phe) single nucleotide variant not provided [RCV001592600] Chr2:1666384 [GRCh38]
Chr2:1670156 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1567+110G>C single nucleotide variant not provided [RCV001635619] Chr2:1663495 [GRCh38]
Chr2:1667267 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.3559G>A (p.Asp1187Asn) single nucleotide variant Anterior segment dysgenesis 7 [RCV000878112] Chr2:1648221 [GRCh38]
Chr2:1651993 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3064G>A (p.Val1022Met) single nucleotide variant Anterior segment dysgenesis 7 [RCV000951566] Chr2:1648716 [GRCh38]
Chr2:1652488 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.3165C>T (p.Pro1055=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000951614]|PXDN-related disorder [RCV003943038]|not provided [RCV001558138]|not specified [RCV001700517] Chr2:1648615 [GRCh38]
Chr2:1652387 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.2097C>T (p.Asn699=) single nucleotide variant Anterior segment dysgenesis 7 [RCV001485107]|PXDN-related disorder [RCV003908371] Chr2:1653635 [GRCh38]
Chr2:1657407 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.2999C>T (p.Thr1000Met) single nucleotide variant Anterior segment dysgenesis 7 [RCV001394879] Chr2:1648781 [GRCh38]
Chr2:1652553 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3651C>T (p.Leu1217=) single nucleotide variant not provided [RCV000892185] Chr2:1644710 [GRCh38]
Chr2:1648482 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.2385G>A (p.Pro795=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000952413] Chr2:1649395 [GRCh38]
Chr2:1653167 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.2172C>T (p.Thr724=) single nucleotide variant Anterior segment dysgenesis 7 [RCV002066333] Chr2:1649608 [GRCh38]
Chr2:1653380 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1893G>C (p.Ala631=) single nucleotide variant not provided [RCV000961385] Chr2:1654453 [GRCh38]
Chr2:1658225 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3743+9G>A single nucleotide variant Anterior segment dysgenesis 7 [RCV002545989]|not provided [RCV000945515]|not specified [RCV001729748] Chr2:1644609 [GRCh38]
Chr2:1648381 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.243A>G (p.Ala81=) single nucleotide variant Anterior segment dysgenesis 7 [RCV001404718] Chr2:1693092 [GRCh38]
Chr2:1696864 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1408+9C>G single nucleotide variant not provided [RCV000920071] Chr2:1664949 [GRCh38]
Chr2:1668721 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3175G>A (p.Ala1059Thr) single nucleotide variant Anterior segment dysgenesis 7 [RCV000953997]|PXDN-related disorder [RCV003903252] Chr2:1648605 [GRCh38]
Chr2:1648605..1648606 [GRCh38]
Chr2:1652377 [GRCh37]
Chr2:1652377..1652378 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.1506C>T (p.Cys502=) single nucleotide variant not provided [RCV000924209] Chr2:1663666 [GRCh38]
Chr2:1667438 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1409-8C>T single nucleotide variant not provided [RCV000924513] Chr2:1663771 [GRCh38]
Chr2:1667543 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.2025G>A (p.Ala675=) single nucleotide variant not provided [RCV000921268] Chr2:1653707 [GRCh38]
Chr2:1657479 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.4207-6C>T single nucleotide variant Anterior segment dysgenesis 7 [RCV000877976]|not provided [RCV001595052] Chr2:1635527 [GRCh38]
Chr2:1639299 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.3949G>A (p.Glu1317Lys) single nucleotide variant Anterior segment dysgenesis 7 [RCV001210499] Chr2:1643371 [GRCh38]
Chr2:1647143 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.4321-16C>T single nucleotide variant Anterior segment dysgenesis 7 [RCV002072334]|not provided [RCV001582252] Chr2:1634339 [GRCh38]
Chr2:1638111 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.701C>T (p.Ala234Val) single nucleotide variant Anterior segment dysgenesis 7 [RCV001213873] Chr2:1680222 [GRCh38]
Chr2:1683994 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3303T>G (p.Ala1101=) single nucleotide variant Anterior segment dysgenesis 7 [RCV002065568] Chr2:1648477 [GRCh38]
Chr2:1652249 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1203C>T (p.Asn401=) single nucleotide variant not provided [RCV000913129] Chr2:1666302 [GRCh38]
Chr2:1670074 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1827C>T (p.Leu609=) single nucleotide variant Anterior segment dysgenesis 7 [RCV000913461] Chr2:1660891 [GRCh38]
Chr2:1664663 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.730+9C>T single nucleotide variant not provided [RCV000911345] Chr2:1680184 [GRCh38]
Chr2:1683956 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1409-251C>G single nucleotide variant not provided [RCV001659447] Chr2:1664014 [GRCh38]
Chr2:1667786 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1292-21T>C single nucleotide variant not provided [RCV001577230] Chr2:1665095 [GRCh38]
Chr2:1668867 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1409-322A>G single nucleotide variant not provided [RCV001545081] Chr2:1664085 [GRCh38]
Chr2:1667857 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1408+48G>A single nucleotide variant not provided [RCV001561973] Chr2:1664910 [GRCh38]
Chr2:1668682 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1838-270G>A single nucleotide variant not provided [RCV001637399] Chr2:1654778 [GRCh38]
Chr2:1658550 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.2569del (p.Cys857fs) deletion Anterior segment dysgenesis 7 [RCV000993696] Chr2:1649211 [GRCh38]
Chr2:1652983 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.416+217G>A single nucleotide variant not provided [RCV001558627] Chr2:1687415 [GRCh38]
Chr2:1691187 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.4073+90G>A single nucleotide variant not provided [RCV001559755] Chr2:1639212 [GRCh38]
Chr2:1642984 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.417-168T>G single nucleotide variant not provided [RCV001635928] Chr2:1684319 [GRCh38]
Chr2:1688091 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.4206+79G>A single nucleotide variant Anterior segment dysgenesis 7 [RCV001544239]|not provided [RCV001694079] Chr2:1638767 [GRCh38]
Chr2:1642539 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.417-213A>G single nucleotide variant not provided [RCV001566057] Chr2:1684364 [GRCh38]
Chr2:1688136 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1947-286G>A single nucleotide variant not provided [RCV001561287] Chr2:1654071 [GRCh38]
Chr2:1657843 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.730+86_730+88del microsatellite not provided [RCV001556274] Chr2:1680105..1680107 [GRCh38]
Chr2:1683877..1683879 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.2998A>G (p.Thr1000Ala) single nucleotide variant Inborn genetic diseases [RCV003276241] Chr2:1648782 [GRCh38]
Chr2:1652554 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:1045542-4104255)x3 copy number gain not provided [RCV001005221] Chr2:1045542..4104255 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1410G>A (p.Gly470=) single nucleotide variant not provided [RCV001615804] Chr2:1663762 [GRCh38]
Chr2:1667534 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.4074-40A>G single nucleotide variant Anterior segment dysgenesis 7 [RCV001796626]|not provided [RCV001639610] Chr2:1639018 [GRCh38]
Chr2:1642790 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.345-147T>G single nucleotide variant not provided [RCV001589421] Chr2:1687850 [GRCh38]
Chr2:1691622 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.200+35C>T single nucleotide variant Anterior segment dysgenesis 7 [RCV001794490]|not provided [RCV001696130] Chr2:1744221 [GRCh38]
Chr2:1747993 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.849-182C>T single nucleotide variant not provided [RCV001597669] Chr2:1673994 [GRCh38]
Chr2:1677766 [GRCh37]
Chr2:2p25.3		 benign
NC_000002.12:g.1744657T>C single nucleotide variant not provided [RCV001635891] Chr2:1744657 [GRCh38]
Chr2:1748429 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.4206+249T>G single nucleotide variant not provided [RCV001677491] Chr2:1638597 [GRCh38]
Chr2:1642369 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1837+23_1837+24dup duplication not provided [RCV001616834] Chr2:1660856..1660857 [GRCh38]
Chr2:1664628..1664629 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.489-147C>A single nucleotide variant not provided [RCV001594341] Chr2:1683874 [GRCh38]
Chr2:1687646 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.201-272C>T single nucleotide variant not provided [RCV001581622] Chr2:1693406 [GRCh38]
Chr2:1697178 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1681-323T>C single nucleotide variant not provided [RCV001581662] Chr2:1661360 [GRCh38]
Chr2:1665132 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.4206+74G>A single nucleotide variant not provided [RCV001594541] Chr2:1638772 [GRCh38]
Chr2:1642544 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.3609-257C>G single nucleotide variant not provided [RCV001614807] Chr2:1645009 [GRCh38]
Chr2:1648781 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1018+218A>G single nucleotide variant not provided [RCV001638224] Chr2:1673425 [GRCh38]
Chr2:1677197 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1567+126G>A single nucleotide variant not provided [RCV001587055] Chr2:1663479 [GRCh38]
Chr2:1667251 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3608+102G>T single nucleotide variant not provided [RCV001716369] Chr2:1648070 [GRCh38]
Chr2:1651842 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.730+227C>T single nucleotide variant not provided [RCV001686971] Chr2:1679966 [GRCh38]
Chr2:1683738 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1568-26C>T single nucleotide variant not provided [RCV001587161] Chr2:1662210 [GRCh38]
Chr2:1665982 [GRCh37]
Chr2:2p25.3		 likely benign
NC_000002.12:g.1744691G>A single nucleotide variant not provided [RCV001665719] Chr2:1744691 [GRCh38]
Chr2:1748463 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.4206+70C>T single nucleotide variant not provided [RCV001640898] Chr2:1638776 [GRCh38]
Chr2:1642548 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.3953-262A>G single nucleotide variant not provided [RCV001695634] Chr2:1639684 [GRCh38]
Chr2:1643456 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.200+231A>C single nucleotide variant not provided [RCV001690408] Chr2:1744025 [GRCh38]
Chr2:1747797 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.3953-321C>T single nucleotide variant not provided [RCV001545473] Chr2:1639743 [GRCh38]
Chr2:1643515 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1291+277_1291+278dup duplication not provided [RCV001564897] Chr2:1665935..1665936 [GRCh38]
Chr2:1669707..1669708 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1947-22C>T single nucleotide variant not provided [RCV001709053] Chr2:1653807 [GRCh38]
Chr2:1657579 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.4321-123C>G single nucleotide variant not provided [RCV001540439] Chr2:1634446 [GRCh38]
Chr2:1638218 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.2105-58G>A single nucleotide variant not provided [RCV001572339] Chr2:1649733 [GRCh38]
Chr2:1653505 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.731-282G>A single nucleotide variant not provided [RCV001567349] Chr2:1677326 [GRCh38]
Chr2:1681098 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.4085_4086del (p.Gln1362fs) deletion Anterior segment dysgenesis 7 [RCV004761969]|Anterior segment dysgenesis [RCV001200030]|not provided [RCV003314673] Chr2:1638966..1638967 [GRCh38]
Chr2:1642738..1642739 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.2999C>G (p.Thr1000Arg) single nucleotide variant Anterior segment dysgenesis 7 [RCV001254620] Chr2:1648781 [GRCh38]
Chr2:1652553 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1492690-2204279)x3 copy number gain not provided [RCV001259162] Chr2:1492690..2204279 [GRCh37]
Chr2:2p25.3		 likely pathogenic|uncertain significance
NM_012293.3(PXDN):c.2098G>T (p.Gly700Ter) single nucleotide variant Anterior segment dysgenesis 7 [RCV001265642] Chr2:1653634 [GRCh38]
Chr2:1657406 [GRCh37]
Chr2:2p25.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:12770-1680334)x1 copy number loss not provided [RCV001259635] Chr2:12770..1680334 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3742A>G (p.Arg1248Gly) single nucleotide variant Anterior segment dysgenesis 7 [RCV001807955] Chr2:1644619 [GRCh38]
Chr2:1648391 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.4320+167G>A single nucleotide variant not provided [RCV001538372] Chr2:1635241 [GRCh38]
Chr2:1639013 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.2591C>G (p.Pro864Arg) single nucleotide variant Anterior segment dysgenesis 7 [RCV001963815]|Inborn genetic diseases [RCV002569242] Chr2:1649189 [GRCh38]
Chr2:1652961 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2569T>C (p.Cys857Arg) single nucleotide variant Anterior segment dysgenesis 7 [RCV001269469] Chr2:1649211 [GRCh38]
Chr2:1652983 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3292C>T (p.Leu1098Phe) single nucleotide variant Anterior segment dysgenesis 7 [RCV001294908] Chr2:1648488 [GRCh38]
Chr2:1652260 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.841C>T (p.Arg281Ter) single nucleotide variant Anterior segment dysgenesis 7 [RCV001334690] Chr2:1676934 [GRCh38]
Chr2:1680706 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.2214_2215delinsAA (p.His738_Gln739delinsGlnLys) indel Anterior segment dysgenesis 7 [RCV001362761] Chr2:1649565..1649566 [GRCh38]
Chr2:1653337..1653338 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1075G>A (p.Val359Ile) single nucleotide variant Anterior segment dysgenesis 7 [RCV001339729] Chr2:1666430 [GRCh38]
Chr2:1670202 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2353C>T (p.Arg785Ter) single nucleotide variant Anterior segment dysgenesis 7 [RCV003075482] Chr2:1649427 [GRCh38]
Chr2:1653199 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.2369A>T (p.His790Leu) single nucleotide variant Anterior segment dysgenesis 7 [RCV001317444]|Inborn genetic diseases [RCV004034427] Chr2:1649411 [GRCh38]
Chr2:1653183 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.111G>C (p.Pro37=) single nucleotide variant Anterior segment dysgenesis 7 [RCV001512050]|not provided [RCV001560153] Chr2:1744345 [GRCh38]
Chr2:1748117 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.1018+149T>G single nucleotide variant not provided [RCV001643413] Chr2:1673494 [GRCh38]
Chr2:1677266 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.2350del (p.His784fs) deletion Anterior segment dysgenesis 7 [RCV001388176] Chr2:1649430 [GRCh38]
Chr2:1653202 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.3609-308T>C single nucleotide variant not provided [RCV001617308] Chr2:1645060 [GRCh38]
Chr2:1648832 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1018+10G>A single nucleotide variant Anterior segment dysgenesis 7 [RCV001469392] Chr2:1673633 [GRCh38]
Chr2:1677405 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.731-280C>T single nucleotide variant not provided [RCV001665418] Chr2:1677324 [GRCh38]
Chr2:1681096 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.2151C>T (p.Ile717=) single nucleotide variant not provided [RCV001726665]|not specified [RCV001700650] Chr2:1649629 [GRCh38]
Chr2:1653401 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.4206+134C>A single nucleotide variant not provided [RCV001589935] Chr2:1638712 [GRCh38]
Chr2:1642484 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.717A>G (p.Glu239=) single nucleotide variant Anterior segment dysgenesis 7 [RCV001497608] Chr2:1680206 [GRCh38]
Chr2:1683978 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1837+145C>G single nucleotide variant not provided [RCV001685811] Chr2:1660736 [GRCh38]
Chr2:1664508 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1292-273T>G single nucleotide variant not provided [RCV001617080] Chr2:1665347 [GRCh38]
Chr2:1669119 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.878G>A (p.Arg293His) single nucleotide variant not provided [RCV004784304] Chr2:1673783 [GRCh38]
Chr2:1677555 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3305T>G (p.Phe1102Cys) single nucleotide variant not provided [RCV004784529] Chr2:1648475 [GRCh38]
Chr2:1652247 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1946+21C>T single nucleotide variant not provided [RCV001732579] Chr2:1654379 [GRCh38]
Chr2:1658151 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:1711539-1928783)x3 copy number gain not provided [RCV001833008] Chr2:1711539..1928783 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:10501-2386917)x1 copy number loss Intellectual disability, autosomal dominant 39 [RCV001801227] Chr2:10501..2386917 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.165G>A (p.Glu55=) single nucleotide variant Anterior segment dysgenesis 7 [RCV003584990]|not provided [RCV001796925]|not specified [RCV001795504] Chr2:1744291 [GRCh38]
Chr2:1748063 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_012293.3(PXDN):c.4123A>C (p.Thr1375Pro) single nucleotide variant Anterior segment dysgenesis 7 [RCV001965717]|Inborn genetic diseases [RCV004044423] Chr2:1638929 [GRCh38]
Chr2:1642701 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:637829-1945590) copy number loss not specified [RCV002053023] Chr2:637829..1945590 [GRCh37]
Chr2:2p25.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:528352-2564992) copy number loss not specified [RCV002053012] Chr2:528352..2564992 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.4144A>G (p.Thr1382Ala) single nucleotide variant Anterior segment dysgenesis 7 [RCV001966095]|Inborn genetic diseases [RCV002571192] Chr2:1638908 [GRCh38]
Chr2:1642680 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2180G>A (p.Arg727Gln) single nucleotide variant Anterior segment dysgenesis 7 [RCV001870876] Chr2:1649600 [GRCh38]
Chr2:1653372 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1625269-2315044)x3 copy number gain not provided [RCV001832978] Chr2:1625269..2315044 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1517A>G (p.Asn506Ser) single nucleotide variant Anterior segment dysgenesis 7 [RCV002003389] Chr2:1663655 [GRCh38]
Chr2:1667427 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2824C>T (p.Gln942Ter) single nucleotide variant Anterior segment dysgenesis 7 [RCV001893709] Chr2:1648956 [GRCh38]
Chr2:1652728 [GRCh37]
Chr2:2p25.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:1492690-2203775)x3 copy number gain not provided [RCV001834304] Chr2:1492690..2203775 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3766G>A (p.Val1256Met) single nucleotide variant Anterior segment dysgenesis 7 [RCV002035957] Chr2:1643554 [GRCh38]
Chr2:1647326 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1789C>T (p.Arg597Trp) single nucleotide variant Anterior segment dysgenesis 7 [RCV001953979]|Inborn genetic diseases [RCV002564418]|not provided [RCV004691477] Chr2:1660929 [GRCh38]
Chr2:1664701 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3551C>T (p.Thr1184Met) single nucleotide variant Anterior segment dysgenesis 7 [RCV001943598] Chr2:1648229 [GRCh38]
Chr2:1652001 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3862G>A (p.Val1288Met) single nucleotide variant Anterior segment dysgenesis 7 [RCV001989790]|not provided [RCV004691476] Chr2:1643458 [GRCh38]
Chr2:1647230 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1885G>A (p.Val629Met) single nucleotide variant Anterior segment dysgenesis 7 [RCV001922435] Chr2:1654461 [GRCh38]
Chr2:1658233 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1811C>T (p.Ser604Leu) single nucleotide variant Anterior segment dysgenesis 7 [RCV002013498] Chr2:1660907 [GRCh38]
Chr2:1664679 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1650C>T (p.Gly550=) single nucleotide variant Anterior segment dysgenesis 7 [RCV001960836] Chr2:1662102 [GRCh38]
Chr2:1665874 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3644C>T (p.Pro1215Leu) single nucleotide variant Anterior segment dysgenesis 7 [RCV002034118] Chr2:1644717 [GRCh38]
Chr2:1648489 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.32_33delinsTT (p.Arg11Leu) indel Anterior segment dysgenesis 7 [RCV001870309] Chr2:1744423..1744424 [GRCh38]
Chr2:1748195..1748196 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3832G>A (p.Ala1278Thr) single nucleotide variant Anterior segment dysgenesis 7 [RCV001931958] Chr2:1643488 [GRCh38]
Chr2:1647260 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.639G>A (p.Ser213=) single nucleotide variant Anterior segment dysgenesis 7 [RCV002185551] Chr2:1680284 [GRCh38]
Chr2:1684056 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.750C>T (p.Ser250=) single nucleotide variant Anterior segment dysgenesis 7 [RCV002107340] Chr2:1677025 [GRCh38]
Chr2:1680797 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.730+16C>T single nucleotide variant Anterior segment dysgenesis 7 [RCV002208155] Chr2:1680177 [GRCh38]
Chr2:1683949 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.531A>G (p.Thr177=) single nucleotide variant Anterior segment dysgenesis 7 [RCV002115149] Chr2:1683685 [GRCh38]
Chr2:1687457 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.3441A>G (p.Ala1147=) single nucleotide variant Anterior segment dysgenesis 7 [RCV002206584] Chr2:1648339 [GRCh38]
Chr2:1652111 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1680+19G>A single nucleotide variant Anterior segment dysgenesis 7 [RCV002115915]|not provided [RCV004714371] Chr2:1662053 [GRCh38]
Chr2:1665825 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.1329C>T (p.Val443=) single nucleotide variant Anterior segment dysgenesis 7 [RCV002169341] Chr2:1665037 [GRCh38]
Chr2:1668809 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3570T>C (p.Asn1190=) single nucleotide variant Anterior segment dysgenesis 7 [RCV002162128] Chr2:1648210 [GRCh38]
Chr2:1651982 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3768G>C (p.Val1256=) single nucleotide variant Anterior segment dysgenesis 7 [RCV002154842] Chr2:1643552 [GRCh38]
Chr2:1647324 [GRCh37]
Chr2:2p25.3		 likely benign
NC_000002.11:g.(?_1748008)_(1748227_?)dup duplication Anterior segment dysgenesis 7 [RCV003116584] Chr2:1748008..1748227 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2994T>G (p.Ile998Met) single nucleotide variant Inborn genetic diseases [RCV003255786] Chr2:1648786 [GRCh38]
Chr2:1652558 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1109del (p.Pro370fs) deletion Anterior segment dysgenesis 7 [RCV002279767] Chr2:1666396 [GRCh38]
Chr2:1670168 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.3247C>T (p.Arg1083Trp) single nucleotide variant Anterior segment dysgenesis 7 [RCV002280601] Chr2:1648533 [GRCh38]
Chr2:1652305 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2162C>G (p.Ser721Trp) single nucleotide variant not provided [RCV002287174] Chr2:1649618 [GRCh38]
Chr2:1653390 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3042CTA[1] (p.Tyr1016del) microsatellite Anterior segment dysgenesis 7 [RCV002280602] Chr2:1648733..1648735 [GRCh38]
Chr2:1652505..1652507 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1838-231CTT[2] microsatellite not provided [RCV002285814] Chr2:1654731..1654733 [GRCh38]
Chr2:1658503..1658505 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:12771-1947832)x1 copy number loss not provided [RCV002474573] Chr2:12771..1947832 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.3366C>G (p.Phe1122Leu) single nucleotide variant Anterior segment dysgenesis 7 [RCV002299368] Chr2:1648414 [GRCh38]
Chr2:1652186 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2741A>G (p.Asn914Ser) single nucleotide variant Anterior segment dysgenesis 7 [RCV002903615] Chr2:1649039 [GRCh38]
Chr2:1652811 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.2044A>C (p.Thr682Pro) single nucleotide variant Anterior segment dysgenesis 7 [RCV002839304] Chr2:1653688 [GRCh38]
Chr2:1657460 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1544766-2315044)x3 copy number gain not provided [RCV002475629] Chr2:1544766..2315044 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.4255G>A (p.Gly1419Arg) single nucleotide variant Inborn genetic diseases [RCV002997836] Chr2:1635473 [GRCh38]
Chr2:1639245 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1992G>A (p.Pro664=) single nucleotide variant Anterior segment dysgenesis 7 [RCV003017591] Chr2:1653740 [GRCh38]
Chr2:1657512 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3169A>G (p.Ile1057Val) single nucleotide variant Anterior segment dysgenesis 7 [RCV002904615] Chr2:1648611 [GRCh38]
Chr2:1652383 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.149T>C (p.Met50Thr) single nucleotide variant Inborn genetic diseases [RCV002728764] Chr2:1744307 [GRCh38]
Chr2:1748079 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1327G>A (p.Val443Ile) single nucleotide variant Inborn genetic diseases [RCV002733380] Chr2:1665039 [GRCh38]
Chr2:1668811 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1739C>A (p.Thr580Asn) single nucleotide variant Anterior segment dysgenesis 7 [RCV002882280] Chr2:1660979 [GRCh38]
Chr2:1664751 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.4007G>A (p.Arg1336Gln) single nucleotide variant Inborn genetic diseases [RCV002817778] Chr2:1639368 [GRCh38]
Chr2:1643140 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1284C>T (p.Ile428=) single nucleotide variant Anterior segment dysgenesis 7 [RCV002947609] Chr2:1666221 [GRCh38]
Chr2:1669993 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1504T>C (p.Cys502Arg) single nucleotide variant Inborn genetic diseases [RCV002793546] Chr2:1663668 [GRCh38]
Chr2:1667440 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1171A>C (p.Ile391Leu) single nucleotide variant Inborn genetic diseases [RCV002839878] Chr2:1666334 [GRCh38]
Chr2:1670106 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.941T>G (p.Ile314Ser) single nucleotide variant Inborn genetic diseases [RCV002817471] Chr2:1673720 [GRCh38]
Chr2:1677492 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3469A>G (p.Ile1157Val) single nucleotide variant Anterior segment dysgenesis 7 [RCV002923023] Chr2:1648311 [GRCh38]
Chr2:1652083 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1067G>C (p.Gly356Ala) single nucleotide variant Inborn genetic diseases [RCV002849255] Chr2:1666438 [GRCh38]
Chr2:1670210 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1408+8_1408+9dup duplication Anterior segment dysgenesis 7 [RCV003081674] Chr2:1664948..1664949 [GRCh38]
Chr2:1668720..1668721 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1927C>T (p.Arg643Ter) single nucleotide variant Anterior segment dysgenesis 7 [RCV002846198] Chr2:1654419 [GRCh38]
Chr2:1658191 [GRCh37]
Chr2:2p25.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:1742241-1848126) copy number gain Intellectual disability [RCV002509891] Chr2:1742241..1848126 [GRCh37]
Chr2:2p25.3		 pathogenic|low penetrance
NM_012293.3(PXDN):c.1204G>A (p.Val402Ile) single nucleotide variant not provided [RCV003036947] Chr2:1666301 [GRCh38]
Chr2:1670073 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1074C>T (p.Ser358=) single nucleotide variant Anterior segment dysgenesis 7 [RCV002909682] Chr2:1666431 [GRCh38]
Chr2:1670203 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.742A>T (p.Ile248Phe) single nucleotide variant Anterior segment dysgenesis 7 [RCV003018027] Chr2:1677033 [GRCh38]
Chr2:1680805 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1618581-1856549) copy number gain Intellectual disability [RCV002509892] Chr2:1618581..1856549 [GRCh37]
Chr2:2p25.3		 pathogenic|low penetrance
GRCh37/hg19 2p25.3(chr2:1742240-1848126) copy number gain Intellectual disability [RCV002509893] Chr2:1742240..1848126 [GRCh37]
Chr2:2p25.3		 pathogenic|low penetrance
NM_012293.3(PXDN):c.417-7C>T single nucleotide variant Anterior segment dysgenesis 7 [RCV002847615] Chr2:1684158 [GRCh38]
Chr2:1687930 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3953-5T>C single nucleotide variant Anterior segment dysgenesis 7 [RCV002979274] Chr2:1639427 [GRCh38]
Chr2:1643199 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.251G>A (p.Arg84Gln) single nucleotide variant Anterior segment dysgenesis 7 [RCV002695182] Chr2:1693084 [GRCh38]
Chr2:1696856 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1195A>G (p.Ile399Val) single nucleotide variant Inborn genetic diseases [RCV002821638] Chr2:1666310 [GRCh38]
Chr2:1670082 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3803C>T (p.Thr1268Met) single nucleotide variant Anterior segment dysgenesis 7 [RCV003019550]|Inborn genetic diseases [RCV003308433] Chr2:1643517 [GRCh38]
Chr2:1647289 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1115G>A (p.Arg372Gln) single nucleotide variant Inborn genetic diseases [RCV002745060] Chr2:1666390 [GRCh38]
Chr2:1670162 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.632C>T (p.Ala211Val) single nucleotide variant Anterior segment dysgenesis 7 [RCV002933112]|Inborn genetic diseases [RCV003274080] Chr2:1680291 [GRCh38]
Chr2:1684063 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1315C>T (p.Pro439Ser) single nucleotide variant Inborn genetic diseases [RCV002699423] Chr2:1665051 [GRCh38]
Chr2:1668823 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1779G>T (p.Glu593Asp) single nucleotide variant Inborn genetic diseases [RCV002709092] Chr2:1660939 [GRCh38]
Chr2:1664711 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1409-16G>A single nucleotide variant Anterior segment dysgenesis 7 [RCV002741767] Chr2:1663779 [GRCh38]
Chr2:1667551 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1433G>A (p.Arg478Gln) single nucleotide variant Inborn genetic diseases [RCV002929960] Chr2:1663739 [GRCh38]
Chr2:1667511 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.473C>T (p.Pro158Leu) single nucleotide variant Inborn genetic diseases [RCV002849769] Chr2:1684095 [GRCh38]
Chr2:1687867 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2620C>T (p.Arg874Cys) single nucleotide variant Inborn genetic diseases [RCV002698527] Chr2:1649160 [GRCh38]
Chr2:1652932 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3506C>T (p.Pro1169Leu) single nucleotide variant Inborn genetic diseases [RCV002872938] Chr2:1648274 [GRCh38]
Chr2:1652046 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2612G>A (p.Ser871Asn) single nucleotide variant Inborn genetic diseases [RCV003004292] Chr2:1649168 [GRCh38]
Chr2:1652940 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3142G>A (p.Gly1048Arg) single nucleotide variant Inborn genetic diseases [RCV002893615] Chr2:1648638 [GRCh38]
Chr2:1652410 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2560G>A (p.Asp854Asn) single nucleotide variant Inborn genetic diseases [RCV002718913] Chr2:1649220 [GRCh38]
Chr2:1652992 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.821A>G (p.Lys274Arg) single nucleotide variant Inborn genetic diseases [RCV002812585] Chr2:1676954 [GRCh38]
Chr2:1680726 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2590C>G (p.Pro864Ala) single nucleotide variant Inborn genetic diseases [RCV002989099] Chr2:1649190 [GRCh38]
Chr2:1652962 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1207G>A (p.Val403Ile) single nucleotide variant Anterior segment dysgenesis 7 [RCV003009029]|Inborn genetic diseases [RCV004068388] Chr2:1666298 [GRCh38]
Chr2:1670070 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3556G>C (p.Glu1186Gln) single nucleotide variant Inborn genetic diseases [RCV002675086] Chr2:1648224 [GRCh38]
Chr2:1651996 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2185G>A (p.Val729Met) single nucleotide variant Inborn genetic diseases [RCV002769008] Chr2:1649595 [GRCh38]
Chr2:1653367 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3153C>T (p.His1051=) single nucleotide variant Anterior segment dysgenesis 7 [RCV002900052] Chr2:1648627 [GRCh38]
Chr2:1652399 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.400G>A (p.Ala134Thr) single nucleotide variant Anterior segment dysgenesis 7 [RCV003009256] Chr2:1687648 [GRCh38]
Chr2:1691420 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3000G>A (p.Thr1000=) single nucleotide variant Anterior segment dysgenesis 7 [RCV002648021] Chr2:1648780 [GRCh38]
Chr2:1652552 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.683T>C (p.Ile228Thr) single nucleotide variant Inborn genetic diseases [RCV002897141] Chr2:1680240 [GRCh38]
Chr2:1684012 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1409-16G>T single nucleotide variant Anterior segment dysgenesis 7 [RCV002715642] Chr2:1663779 [GRCh38]
Chr2:1667551 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1248C>A (p.Asn416Lys) single nucleotide variant Anterior segment dysgenesis 7 [RCV002650211] Chr2:1666257 [GRCh38]
Chr2:1670029 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3446C>T (p.Thr1149Met) single nucleotide variant Inborn genetic diseases [RCV002944626] Chr2:1648334 [GRCh38]
Chr2:1652106 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1383G>A (p.Pro461=) single nucleotide variant Anterior segment dysgenesis 7 [RCV002943344] Chr2:1664983 [GRCh38]
Chr2:1668755 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3201C>T (p.Thr1067=) single nucleotide variant Anterior segment dysgenesis 7 [RCV002634024] Chr2:1648579 [GRCh38]
Chr2:1652351 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.2854G>T (p.Ala952Ser) single nucleotide variant Anterior segment dysgenesis 7 [RCV002603429] Chr2:1648926 [GRCh38]
Chr2:1652698 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3224C>T (p.Thr1075Met) single nucleotide variant Anterior segment dysgenesis 7 [RCV002611550] Chr2:1648556 [GRCh38]
Chr2:1652328 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.4387C>T (p.Pro1463Ser) single nucleotide variant Inborn genetic diseases [RCV003257955] Chr2:1634257 [GRCh38]
Chr2:1638029 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.4195C>A (p.Leu1399Ile) single nucleotide variant not provided [RCV003229368] Chr2:1638857 [GRCh38]
Chr2:1642629 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1162C>T (p.Arg388Trp) single nucleotide variant Inborn genetic diseases [RCV003193519] Chr2:1666343 [GRCh38]
Chr2:1670115 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3743+2T>G single nucleotide variant Anterior segment dysgenesis 7 [RCV003133738] Chr2:1644616 [GRCh38]
Chr2:1648388 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_012293.3(PXDN):c.4061G>A (p.Arg1354Gln) single nucleotide variant Inborn genetic diseases [RCV003173826] Chr2:1639314 [GRCh38]
Chr2:1643086 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.29G>A (p.Arg10His) single nucleotide variant Inborn genetic diseases [RCV003196395] Chr2:1744427 [GRCh38]
Chr2:1748199 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3592C>T (p.Arg1198Trp) single nucleotide variant Inborn genetic diseases [RCV003199563] Chr2:1648188 [GRCh38]
Chr2:1651960 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3203C>T (p.Ala1068Val) single nucleotide variant Inborn genetic diseases [RCV003173741] Chr2:1648577 [GRCh38]
Chr2:1652349 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2809C>T (p.Arg937Trp) single nucleotide variant Inborn genetic diseases [RCV003217947] Chr2:1648971 [GRCh38]
Chr2:1652743 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1138C>T (p.Arg380Cys) single nucleotide variant Inborn genetic diseases [RCV003183833] Chr2:1666367 [GRCh38]
Chr2:1670139 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3829A>G (p.Asn1277Asp) single nucleotide variant Inborn genetic diseases [RCV003175850] Chr2:1643491 [GRCh38]
Chr2:1647263 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.458C>T (p.Ser153Leu) single nucleotide variant Inborn genetic diseases [RCV003197550] Chr2:1684110 [GRCh38]
Chr2:1687882 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.780G>A (p.Gly260=) single nucleotide variant not provided [RCV003327019] Chr2:1676995 [GRCh38]
Chr2:1680767 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:1560632-1855525)x3 copy number gain See cases [RCV003329508] Chr2:1560632..1855525 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2590C>A (p.Pro864Thr) single nucleotide variant Inborn genetic diseases [RCV003379307] Chr2:1649190 [GRCh38]
Chr2:1652962 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2594A>G (p.Asn865Ser) single nucleotide variant Inborn genetic diseases [RCV003344303] Chr2:1649186 [GRCh38]
Chr2:1652958 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.4060C>T (p.Arg1354Trp) single nucleotide variant Inborn genetic diseases [RCV003355920] Chr2:1639315 [GRCh38]
Chr2:1643087 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.104G>A (p.Gly35Glu) single nucleotide variant Inborn genetic diseases [RCV003370098] Chr2:1744352 [GRCh38]
Chr2:1748124 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2782G>A (p.Asp928Asn) single nucleotide variant Inborn genetic diseases [RCV003383140] Chr2:1648998 [GRCh38]
Chr2:1652770 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:12770-2832894)x1 copy number loss Intellectual disability, autosomal dominant 39 [RCV003458261] Chr2:12770..2832894 [GRCh37]
Chr2:2p25.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:1741828-1855259)x3 copy number gain not provided [RCV003484061] Chr2:1741828..1855259 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1498592-2153497)x3 copy number gain not provided [RCV003484060] Chr2:1498592..2153497 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2586C>T (p.Ile862=) single nucleotide variant not provided [RCV003407147] Chr2:1649194 [GRCh38]
Chr2:1652966 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3730C>T (p.Arg1244Ter) single nucleotide variant PXDN-related disorder [RCV003399962] Chr2:1644631 [GRCh38]
Chr2:1648403 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_012293.3(PXDN):c.1838-2A>G single nucleotide variant Glaucoma 3A [RCV003389573] Chr2:1654510 [GRCh38]
Chr2:1658282 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.1386C>T (p.Pro462=) single nucleotide variant Anterior segment dysgenesis 7 [RCV003585617] Chr2:1664980 [GRCh38]
Chr2:1668752 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1206C>T (p.Val402=) single nucleotide variant Anterior segment dysgenesis 7 [RCV003585627] Chr2:1666299 [GRCh38]
Chr2:1670071 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.4320+10G>A single nucleotide variant Anterior segment dysgenesis 7 [RCV003584259] Chr2:1635398 [GRCh38]
Chr2:1639170 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.2840C>T (p.Pro947Leu) single nucleotide variant Anterior segment dysgenesis 7 [RCV003585568] Chr2:1648940 [GRCh38]
Chr2:1652712 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.4425G>A (p.Ala1475=) single nucleotide variant Anterior segment dysgenesis 7 [RCV003584066] Chr2:1634219 [GRCh38]
Chr2:1637991 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.2172C>G (p.Thr724=) single nucleotide variant Anterior segment dysgenesis 7 [RCV003584139] Chr2:1649608 [GRCh38]
Chr2:1653380 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1964A>G (p.Asn655Ser) single nucleotide variant Anterior segment dysgenesis 7 [RCV003861873]|Inborn genetic diseases [RCV004369563] Chr2:1653768 [GRCh38]
Chr2:1657540 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2913C>T (p.Phe971=) single nucleotide variant Anterior segment dysgenesis 7 [RCV003746361] Chr2:1648867 [GRCh38]
Chr2:1652639 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.2201A>T (p.Asp734Val) single nucleotide variant Anterior segment dysgenesis 7 [RCV003747060] Chr2:1649579 [GRCh38]
Chr2:1653351 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2640C>T (p.Arg880=) single nucleotide variant Anterior segment dysgenesis 7 [RCV003747063] Chr2:1649140 [GRCh38]
Chr2:1652912 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.873T>C (p.Asp291=) single nucleotide variant Anterior segment dysgenesis 7 [RCV003746480] Chr2:1673788 [GRCh38]
Chr2:1677560 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:1741885-1836994)x3 copy number gain not specified [RCV003986379] Chr2:1741885..1836994 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3482G>A (p.Arg1161Gln) single nucleotide variant Anterior segment dysgenesis 7 [RCV003746833] Chr2:1648298 [GRCh38]
Chr2:1652070 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.4085A>C (p.Gln1362Pro) single nucleotide variant Anterior segment dysgenesis 7 [RCV003747440] Chr2:1638967 [GRCh38]
Chr2:1642739 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.849-8C>T single nucleotide variant Anterior segment dysgenesis 7 [RCV003747449] Chr2:1673820 [GRCh38]
Chr2:1677592 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.4357C>A (p.Pro1453Thr) single nucleotide variant Anterior segment dysgenesis 7 [RCV003746074]|not provided [RCV004691592] Chr2:1634287 [GRCh38]
Chr2:1638059 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.272+18A>G single nucleotide variant Anterior segment dysgenesis 7 [RCV003746291]|not provided [RCV004714396] Chr2:1693045 [GRCh38]
Chr2:1696817 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.730+15dup duplication Anterior segment dysgenesis 7 [RCV003746258] Chr2:1680177..1680178 [GRCh38]
Chr2:1683949..1683950 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1408+15G>A single nucleotide variant Anterior segment dysgenesis 7 [RCV003746373] Chr2:1664943 [GRCh38]
Chr2:1668715 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.621G>T (p.Leu207=) single nucleotide variant Anterior segment dysgenesis 7 [RCV003870035] Chr2:1680302 [GRCh38]
Chr2:1684074 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:1649820-2022213)x3 copy number gain not specified [RCV003987283] Chr2:1649820..2022213 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2748C>T (p.Tyr916=) single nucleotide variant Anterior segment dysgenesis 7 [RCV003746012] Chr2:1649032 [GRCh38]
Chr2:1652804 [GRCh37]
Chr2:2p25.3		 benign
NM_012293.3(PXDN):c.730+18C>T single nucleotide variant Anterior segment dysgenesis 7 [RCV003746273] Chr2:1680175 [GRCh38]
Chr2:1683947 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.4206+15G>A single nucleotide variant Anterior segment dysgenesis 7 [RCV003863929] Chr2:1638831 [GRCh38]
Chr2:1642603 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.2920G>A (p.Gly974Arg) single nucleotide variant Anterior segment dysgenesis 7 [RCV003988668] Chr2:1648860 [GRCh38]
Chr2:1652632 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1018+1G>A single nucleotide variant Anterior segment dysgenesis 7 [RCV003988742] Chr2:1673642 [GRCh38]
Chr2:1677414 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_012293.3(PXDN):c.1221C>A (p.Ser407Arg) single nucleotide variant Inborn genetic diseases [RCV004440472] Chr2:1666284 [GRCh38]
Chr2:1670056 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1846G>A (p.Val616Ile) single nucleotide variant Inborn genetic diseases [RCV004440475] Chr2:1654500 [GRCh38]
Chr2:1658272 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3083A>G (p.His1028Arg) single nucleotide variant Inborn genetic diseases [RCV004440485] Chr2:1648697 [GRCh38]
Chr2:1652469 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3539C>T (p.Ser1180Leu) single nucleotide variant Inborn genetic diseases [RCV004440488] Chr2:1648241 [GRCh38]
Chr2:1652013 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.4127G>A (p.Arg1376His) single nucleotide variant Inborn genetic diseases [RCV004440489] Chr2:1638925 [GRCh38]
Chr2:1642697 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.646G>A (p.Ala216Thr) single nucleotide variant Inborn genetic diseases [RCV004440492] Chr2:1680277 [GRCh38]
Chr2:1684049 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1160C>T (p.Pro387Leu) single nucleotide variant Inborn genetic diseases [RCV004440471] Chr2:1666345 [GRCh38]
Chr2:1670117 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2182C>T (p.Arg728Cys) single nucleotide variant Inborn genetic diseases [RCV004440478] Chr2:1649598 [GRCh38]
Chr2:1653370 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.512C>T (p.Thr171Ile) single nucleotide variant Inborn genetic diseases [RCV004440490] Chr2:1683704 [GRCh38]
Chr2:1687476 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1114C>T (p.Arg372Trp) single nucleotide variant Inborn genetic diseases [RCV004440469] Chr2:1666391 [GRCh38]
Chr2:1670163 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.114C>G (p.Ser38Arg) single nucleotide variant Inborn genetic diseases [RCV004440470] Chr2:1744342 [GRCh38]
Chr2:1748114 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2191A>G (p.Asn731Asp) single nucleotide variant Inborn genetic diseases [RCV004440479] Chr2:1649589 [GRCh38]
Chr2:1653361 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2696C>T (p.Pro899Leu) single nucleotide variant Inborn genetic diseases [RCV004440483] Chr2:1649084 [GRCh38]
Chr2:1652856 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3248G>A (p.Arg1083Gln) single nucleotide variant Inborn genetic diseases [RCV004440487] Chr2:1648532 [GRCh38]
Chr2:1652304 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.679C>T (p.Arg227Cys) single nucleotide variant Inborn genetic diseases [RCV004440493] Chr2:1680244 [GRCh38]
Chr2:1684016 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1232C>T (p.Ala411Val) single nucleotide variant Inborn genetic diseases [RCV004440473] Chr2:1666273 [GRCh38]
Chr2:1670045 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1429C>T (p.Arg477Trp) single nucleotide variant Inborn genetic diseases [RCV004440474] Chr2:1663743 [GRCh38]
Chr2:1667515 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2228C>G (p.Thr743Arg) single nucleotide variant Inborn genetic diseases [RCV004440480] Chr2:1649552 [GRCh38]
Chr2:1653324 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2816G>T (p.Gly939Val) single nucleotide variant Inborn genetic diseases [RCV004440484] Chr2:1648964 [GRCh38]
Chr2:1652736 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.595G>C (p.Glu199Gln) single nucleotide variant Inborn genetic diseases [RCV004440491] Chr2:1680328 [GRCh38]
Chr2:1684100 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.691C>T (p.Arg231Cys) single nucleotide variant Inborn genetic diseases [RCV004440495] Chr2:1680232 [GRCh38]
Chr2:1684004 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3659A>G (p.Glu1220Gly) single nucleotide variant Anterior segment dysgenesis 7 [RCV004546863] Chr2:1644702 [GRCh38]
Chr2:1648474 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2569T>G (p.Cys857Gly) single nucleotide variant PXDN-related disorder [RCV003959273] Chr2:1649211 [GRCh38]
Chr2:1652983 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3894C>T (p.Tyr1298=) single nucleotide variant PXDN-related disorder [RCV003904417] Chr2:1643426 [GRCh38]
Chr2:1647198 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1952C>G (p.Pro651Arg) single nucleotide variant Inborn genetic diseases [RCV004440476] Chr2:1653780 [GRCh38]
Chr2:1657552 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3 copy number gain See cases [RCV004442780] Chr2:12771..35541353 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_012293.3(PXDN):c.2097C>A (p.Asn699Lys) single nucleotide variant Inborn genetic diseases [RCV004440477] Chr2:1653635 [GRCh38]
Chr2:1657407 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2547C>G (p.Asn849Lys) single nucleotide variant Inborn genetic diseases [RCV004440481] Chr2:1649233 [GRCh38]
Chr2:1653005 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.81G>T (p.Val27=) single nucleotide variant PXDN-related disorder [RCV003983380] Chr2:1744375 [GRCh38]
Chr2:1748147 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.2793C>T (p.Ser931=) single nucleotide variant PXDN-related disorder [RCV003924623] Chr2:1648987 [GRCh38]
Chr2:1652759 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3609-1G>C single nucleotide variant Anterior segment dysgenesis 7 [RCV003988789] Chr2:1644753 [GRCh38]
Chr2:1648525 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.3477C>A (p.Ile1159=) single nucleotide variant PXDN-related disorder [RCV003899584] Chr2:1648303 [GRCh38]
Chr2:1652075 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.1837+9C>A single nucleotide variant PXDN-related disorder [RCV003976881] Chr2:1660872 [GRCh38]
Chr2:1664644 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3848G>A (p.Arg1283Gln) single nucleotide variant not provided [RCV003993107] Chr2:1643472 [GRCh38]
Chr2:1647244 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1893G>T (p.Ala631=) single nucleotide variant PXDN-related disorder [RCV003901610] Chr2:1654453 [GRCh38]
Chr2:1658225 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.2919C>T (p.Ala973=) single nucleotide variant PXDN-related disorder [RCV003967133] Chr2:1648861 [GRCh38]
Chr2:1652633 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:11314-3033976)x1 copy number loss not provided [RCV004577472] Chr2:11314..3033976 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_012293.3(PXDN):c.3802A>C (p.Thr1268Pro) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004557913] Chr2:1643518 [GRCh38]
Chr2:1647290 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.521T>A (p.Val174Asp) single nucleotide variant Inborn genetic diseases [RCV004662803] Chr2:1683695 [GRCh38]
Chr2:1687467 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.808G>A (p.Glu270Lys) single nucleotide variant Inborn genetic diseases [RCV004662807] Chr2:1676967 [GRCh38]
Chr2:1680739 [GRCh37]
Chr2:2p25.3		 uncertain significance
NC_000002.11:g.(?_1418181)_(1687943_?)dup duplication Anterior segment dysgenesis 7 [RCV004583660] Chr2:1418181..1687943 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.4378G>A (p.Val1460Met) single nucleotide variant Inborn genetic diseases [RCV004669311] Chr2:1634266 [GRCh38]
Chr2:1638038 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.824C>T (p.Pro275Leu) single nucleotide variant Inborn genetic diseases [RCV004662809] Chr2:1676951 [GRCh38]
Chr2:1680723 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2182C>A (p.Arg728Ser) single nucleotide variant Inborn genetic diseases [RCV004662810] Chr2:1649598 [GRCh38]
Chr2:1653370 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3355_3356del (p.Arg1119fs) deletion Anterior segment dysgenesis 7 [RCV004596692] Chr2:1648424..1648425 [GRCh38]
Chr2:1652196..1652197 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_012293.3(PXDN):c.1247A>C (p.Asn416Thr) single nucleotide variant Inborn genetic diseases [RCV004662802] Chr2:1666258 [GRCh38]
Chr2:1670030 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3656T>A (p.Val1219Glu) single nucleotide variant Inborn genetic diseases [RCV004662804] Chr2:1644705 [GRCh38]
Chr2:1648477 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.2066A>G (p.His689Arg) single nucleotide variant Inborn genetic diseases [RCV004662805] Chr2:1653666 [GRCh38]
Chr2:1657438 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.1279A>G (p.Ile427Val) single nucleotide variant Inborn genetic diseases [RCV004662806] Chr2:1666226 [GRCh38]
Chr2:1669998 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.4319A>G (p.Lys1440Arg) single nucleotide variant PXDN-related disorder [RCV004752597] Chr2:1635409 [GRCh38]
Chr2:1639181 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.655G>A (p.Ala219Thr) single nucleotide variant not provided [RCV004812091] Chr2:1680268 [GRCh38]
Chr2:1684040 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_012293.3(PXDN):c.3831C>T (p.Asn1277=) single nucleotide variant PXDN-related disorder [RCV004753876] Chr2:1643489 [GRCh38]
Chr2:1647261 [GRCh37]
Chr2:2p25.3		 likely benign
NM_012293.3(PXDN):c.3964del (p.Arg1322fs) deletion Anterior segment dysgenesis 7 [RCV004764533] Chr2:1639411 [GRCh38]
Chr2:1643183 [GRCh37]
Chr2:2p25.3		 likely pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR29Ahsa-miR-29a-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20566844

Predicted Target Of
Summary Value
Count of predictions:5322
Count of miRNA genes:1294
Interacting mature miRNAs:1684
Transcripts:ENST00000252804, ENST00000425171, ENST00000433670, ENST00000447941, ENST00000453308, ENST00000465809, ENST00000467191, ENST00000477093, ENST00000477810, ENST00000478155, ENST00000483018, ENST00000485177, ENST00000493654, ENST00000493779
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
406981577GWAS630553_Hblood protein measurement QTL GWAS630553 (human)2e-11blood protein measurementblood protein measurement (CMO:0000028)217060071706008Human

Markers in Region
G20812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,636,968 - 1,637,229UniSTSGRCh37
Build 3621,615,975 - 1,616,236RGDNCBI36
Celera21,684,439 - 1,684,700RGD
Cytogenetic Map2p25UniSTS
HuRef21,621,845 - 1,622,106UniSTS
A006H28  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,636,968 - 1,637,229UniSTSGRCh37
Build 3621,615,975 - 1,616,236RGDNCBI36
Celera21,684,439 - 1,684,700RGD
Cytogenetic Map2p25UniSTS
HuRef21,621,845 - 1,622,106UniSTS
GeneMap99-GB4 RH Map224.11UniSTS
NCBI RH Map216.5UniSTS
RH91469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,637,085 - 1,637,261UniSTSGRCh37
Build 3621,616,092 - 1,616,268RGDNCBI36
Celera21,684,556 - 1,684,732RGD
Cytogenetic Map2p25UniSTS
HuRef21,621,962 - 1,622,138UniSTS
GeneMap99-GB4 RH Map224.11UniSTS
G44731  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,637,122 - 1,637,265UniSTSGRCh37
Build 3621,616,129 - 1,616,272RGDNCBI36
Celera21,684,593 - 1,684,736RGD
Cytogenetic Map2p25UniSTS
HuRef21,621,999 - 1,622,142UniSTS
RH16626  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,635,791 - 1,635,890UniSTSGRCh37
Build 3621,614,798 - 1,614,897RGDNCBI36
Celera21,683,261 - 1,683,360RGD
Cytogenetic Map2p25UniSTS
HuRef21,620,667 - 1,620,766UniSTS
GeneMap99-GB4 RH Map224.11UniSTS
NCBI RH Map216.5UniSTS
D2S448_8764  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,635,608 - 1,636,312UniSTSGRCh37
Build 3621,614,615 - 1,615,319RGDNCBI36
Celera21,683,078 - 1,683,782RGD
HuRef21,620,484 - 1,621,188UniSTS
RH25436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,636,976 - 1,637,137UniSTSGRCh37
Build 3621,615,983 - 1,616,144RGDNCBI36
Celera21,684,447 - 1,684,608RGD
Cytogenetic Map2p25UniSTS
HuRef21,621,853 - 1,622,014UniSTS
GeneMap99-GB4 RH Map224.11UniSTS
NCBI RH Map216.5UniSTS
RH46363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,636,589 - 1,636,743UniSTSGRCh37
Build 3621,615,596 - 1,615,750RGDNCBI36
Celera21,684,059 - 1,684,213RGD
Cytogenetic Map2p25UniSTS
HuRef21,621,465 - 1,621,619UniSTS
GeneMap99-GB4 RH Map222.38UniSTS
NCBI RH Map213.9UniSTS
STS-W70089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,637,329 - 1,637,591UniSTSGRCh37
Build 3621,616,336 - 1,616,598RGDNCBI36
Celera21,684,800 - 1,685,062RGD
Cytogenetic Map2p25UniSTS
HuRef21,622,206 - 1,622,468UniSTS
NCBI RH Map216.5UniSTS
RH70454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,637,590 - 1,637,710UniSTSGRCh37
Build 3621,616,597 - 1,616,717RGDNCBI36
Celera21,685,061 - 1,685,181RGD
Cytogenetic Map2p25UniSTS
HuRef21,622,467 - 1,622,587UniSTS
GeneMap99-GB4 RH Map224.11UniSTS
NCBI RH Map216.5UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2414 2788 2242 4948 1714 2312 6 615 1692 455 2245 7036 6224 48 3732 1 852 1732 1588 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF200348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG706125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX348948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN359024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN359026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D86983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA551404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA866300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF090903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000252804   ⟹   ENSP00000252804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,631,887 - 1,744,515 (-)Ensembl
Ensembl Acc Id: ENST00000425171   ⟹   ENSP00000398363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,653,087 - 1,744,502 (-)Ensembl
Ensembl Acc Id: ENST00000433670   ⟹   ENSP00000402738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,653,076 - 1,744,442 (-)Ensembl
Ensembl Acc Id: ENST00000447941   ⟹   ENSP00000408701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,676,957 - 1,692,570 (-)Ensembl
Ensembl Acc Id: ENST00000453308   ⟹   ENSP00000414098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,633,923 - 1,643,471 (-)Ensembl
Ensembl Acc Id: ENST00000465809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,649,365 - 1,653,980 (-)Ensembl
Ensembl Acc Id: ENST00000467191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,664,991 - 1,676,496 (-)Ensembl
Ensembl Acc Id: ENST00000477093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,643,392 - 1,646,170 (-)Ensembl
Ensembl Acc Id: ENST00000477810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,666,356 - 1,676,578 (-)Ensembl
Ensembl Acc Id: ENST00000478155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,633,892 - 1,676,507 (-)Ensembl
Ensembl Acc Id: ENST00000483018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,666,258 - 1,676,463 (-)Ensembl
Ensembl Acc Id: ENST00000485177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,680,253 - 1,744,852 (-)Ensembl
Ensembl Acc Id: ENST00000493654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,633,185 - 1,637,064 (-)Ensembl
Ensembl Acc Id: ENST00000493779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,649,243 - 1,653,966 (-)Ensembl
RefSeq Acc Id: NM_012293   ⟹   NP_036425
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,631,887 - 1,744,515 (-)NCBI
GRCh3721,635,659 - 1,748,291 (-)RGD
Build 3621,614,666 - 1,727,298 (-)NCBI Archive
Celera21,683,129 - 1,795,627 (-)RGD
HuRef21,647,904 - 1,732,959 (-)ENTREZGENE
HuRef21,620,535 - 1,643,248 (-)NCBI
CHM1_121,634,784 - 1,746,442 (-)NCBI
T2T-CHM13v2.021,639,438 - 1,752,269 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005264707   ⟹   XP_005264764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,631,887 - 1,744,515 (-)NCBI
GRCh3721,635,659 - 1,748,291 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510396   ⟹   XP_011508698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,631,887 - 1,744,901 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047445788   ⟹   XP_047301744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,631,887 - 1,707,828 (-)NCBI
RefSeq Acc Id: XM_047445789   ⟹   XP_047301745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,631,887 - 1,744,897 (-)NCBI
RefSeq Acc Id: XM_054343819   ⟹   XP_054199794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,639,438 - 1,752,269 (-)NCBI
RefSeq Acc Id: XM_054343820   ⟹   XP_054199795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,639,438 - 1,752,655 (-)NCBI
RefSeq Acc Id: XM_054343821   ⟹   XP_054199796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,639,438 - 1,752,651 (-)NCBI
RefSeq Acc Id: NP_036425   ⟸   NM_012293
- Peptide Label: precursor
- UniProtKB: D6W4Y0 (UniProtKB/Swiss-Prot),   A8QM65 (UniProtKB/Swiss-Prot),   Q4KMG2 (UniProtKB/Swiss-Prot),   Q92626 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005264764   ⟸   XM_005264707
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011508698   ⟸   XM_011510396
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000252804   ⟸   ENST00000252804
Ensembl Acc Id: ENSP00000398363   ⟸   ENST00000425171
Ensembl Acc Id: ENSP00000414098   ⟸   ENST00000453308
Ensembl Acc Id: ENSP00000408701   ⟸   ENST00000447941
Ensembl Acc Id: ENSP00000402738   ⟸   ENST00000433670
RefSeq Acc Id: XP_047301745   ⟸   XM_047445789
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047301744   ⟸   XM_047445788
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054199795   ⟸   XM_054343820
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054199796   ⟸   XM_054343821
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054199794   ⟸   XM_054343819
- Peptide Label: isoform X1
Protein Domains
Ig-like   Ig-like C2-type   LRRCT   LRRNT   VWFC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92626-F1-model_v2 AlphaFold Q92626 1-1479 view protein structure

Promoters
RGD ID:6798039
Promoter ID:HG_KWN:31323
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_012293,   OTTHUMT00000322510,   OTTHUMT00000322512,   UC002QXB.1,   UC002QXC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3621,727,091 - 1,727,591 (-)MPROMDB
RGD ID:6859538
Promoter ID:EPDNEW_H2934
Type:initiation region
Name:PXDN_1
Description:peroxidasin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,744,515 - 1,744,575EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14966 AgrOrtholog
COSMIC PXDN COSMIC
Ensembl Genes ENSG00000130508 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000252804 ENTREZGENE
  ENST00000252804.9 UniProtKB/Swiss-Prot
  ENST00000425171.2 UniProtKB/TrEMBL
  ENST00000433670.5 UniProtKB/TrEMBL
  ENST00000447941.5 UniProtKB/TrEMBL
  ENST00000453308.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.20.200.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130508 GTEx
HGNC ID HGNC:14966 ENTREZGENE
Human Proteome Map PXDN Human Proteome Map
InterPro Adhesion_GPCR_A UniProtKB/TrEMBL
  Cys-rich_flank_reg_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Haem_peroxidase_animal UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Haem_peroxidase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Haem_peroxidase_sf_animal UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peroxidase/ROS_Generation UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peroxidasin UniProtKB/Swiss-Prot
  Peroxidasin_Ig-like3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peroxidasin_peroxidase UniProtKB/Swiss-Prot
  Peroxidasin_vert UniProtKB/TrEMBL
  VWF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7837 UniProtKB/Swiss-Prot
NCBI Gene 7837 ENTREZGENE
OMIM 605158 OMIM
PANTHER FIBRONECTIN TYPE-III DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  G-PROTEIN COUPLED RECEPTOR 124-LIKE PROTEIN UniProtKB/TrEMBL
  G-PROTEIN COUPLED RECEPTOR 124-LIKE PROTEIN UniProtKB/TrEMBL
  OXIDASE/PEROXIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN SIDEKICK UniProtKB/TrEMBL
  PTHR11475:SF75 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam An_peroxidase UniProtKB/Swiss-Prot
  I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRCT UniProtKB/TrEMBL
  VWC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128394535 PharmGKB
PRINTS ANPEROXIDASE UniProtKB/Swiss-Prot
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEROXIDASE_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFC_1 UniProtKB/Swiss-Prot
  VWFC_2 UniProtKB/Swiss-Prot
SMART IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_TYP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP FnI-like domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48113 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8QM65 ENTREZGENE
  C9J4I9_HUMAN UniProtKB/TrEMBL
  D6W4Y0 ENTREZGENE
  H7C1W1_HUMAN UniProtKB/TrEMBL
  H7C300_HUMAN UniProtKB/TrEMBL
  H7C3W2_HUMAN UniProtKB/TrEMBL
  PXDN_HUMAN UniProtKB/Swiss-Prot
  Q4KMG2 ENTREZGENE
  Q92626 ENTREZGENE
  Q96GF5_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8QM65 UniProtKB/Swiss-Prot
  D6W4Y0 UniProtKB/Swiss-Prot
  Q4KMG2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-12-23 PXDN  peroxidasin  PXDN  peroxidasin homolog (Drosophila)  Symbol and/or name change 5135510 APPROVED