SNAP29 (synaptosome associated protein 29) - Rat Genome Database

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Gene: SNAP29 (synaptosome associated protein 29) Homo sapiens
Analyze
Symbol: SNAP29
Name: synaptosome associated protein 29
RGD ID: 735746
HGNC Page HGNC:11133
Description: Predicted to enable SNAP receptor activity and syntaxin binding activity. Involved in autophagosome membrane docking and cilium assembly. Located in centrosome; ciliary pocket membrane; and cytosol. Part of SNARE complex. Implicated in CEDNIK syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CEDNIK; cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome; FLJ21051; SNAP-29; soluble 29 kDa NSF attachment protein; synaptosomal-associated protein 29; synaptosomal-associated protein, 29kD; synaptosomal-associated protein, 29kDa; synaptosome associated protein 29kDa; vesicle-membrane fusion protein SNAP-29
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
GRCh382220,859,007 - 20,891,214 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2220,859,007 - 20,891,214 (+)EnsemblGRCh38hg38GRCh38
GRCh372221,213,295 - 21,245,502 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,543,292 - 19,574,109 (+)NCBINCBI36Build 36hg18NCBI36
Build 342219,537,845 - 19,568,663NCBI
Celera224,704,631 - 4,736,842 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef224,481,433 - 4,513,635 (+)NCBIHuRef
CHM1_12221,213,478 - 21,245,708 (+)NCBICHM1_1
T2T-CHM13v2.02221,267,728 - 21,299,920 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Three novel proteins of the syntaxin/SNAP-25 family. Steegmaier M, etal., J Biol Chem 1998 Dec 18;273(51):34171-9.
Additional References at PubMed
PMID:9880331   PMID:10591208   PMID:10839363   PMID:11317222   PMID:11423532   PMID:11444821   PMID:11707603   PMID:12477932   PMID:12853575   PMID:15371016   PMID:15461802   PMID:15489334  
PMID:15890653   PMID:15968592   PMID:16009131   PMID:16189514   PMID:18029348   PMID:19086053   PMID:19350501   PMID:19738201   PMID:20305790   PMID:20360068   PMID:20562859   PMID:21073448  
PMID:21873635   PMID:21988832   PMID:22558309   PMID:22792062   PMID:23217709   PMID:23231787   PMID:24366813   PMID:24722188   PMID:24999758   PMID:25281560   PMID:25416956   PMID:25419848  
PMID:25468996   PMID:25544563   PMID:25551675   PMID:25686250   PMID:25686604   PMID:25958742   PMID:26186194   PMID:26344197   PMID:26359495   PMID:26496610   PMID:26673895   PMID:27173435  
PMID:27499296   PMID:27609421   PMID:27647876   PMID:28514442   PMID:28611215   PMID:29426817   PMID:29454964   PMID:29568061   PMID:29615496   PMID:29997244   PMID:30555541   PMID:30584088  
PMID:30742775   PMID:30833792   PMID:30890647   PMID:31177093   PMID:31594818   PMID:31732153   PMID:31753913   PMID:31806350   PMID:31811899   PMID:31871319   PMID:32296183   PMID:32687490  
PMID:32788342   PMID:32814053   PMID:32817423   PMID:32877691   PMID:33277362   PMID:33417871   PMID:33422265   PMID:33869196   PMID:33916271   PMID:33947832   PMID:33961781   PMID:34069872  
PMID:34079125   PMID:34108663   PMID:34315543   PMID:34369648   PMID:34373451   PMID:34535638   PMID:34597346   PMID:34709727   PMID:34800366   PMID:35063084   PMID:35256275   PMID:35271311  
PMID:35384245   PMID:35844135   PMID:35944360   PMID:36042349   PMID:36114006   PMID:36181414   PMID:36300783   PMID:36537216   PMID:36857408   PMID:37014234   PMID:37232246   PMID:37478010  
PMID:37774976   PMID:37827155   PMID:37931956   PMID:38113892   PMID:38117590   PMID:38280479   PMID:38340317   PMID:38569033   PMID:38891874   PMID:39098523   PMID:39231216  


Genomics

Comparative Map Data
SNAP29
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382220,859,007 - 20,891,214 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2220,859,007 - 20,891,214 (+)EnsemblGRCh38hg38GRCh38
GRCh372221,213,295 - 21,245,502 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,543,292 - 19,574,109 (+)NCBINCBI36Build 36hg18NCBI36
Build 342219,537,845 - 19,568,663NCBI
Celera224,704,631 - 4,736,842 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef224,481,433 - 4,513,635 (+)NCBIHuRef
CHM1_12221,213,478 - 21,245,708 (+)NCBICHM1_1
T2T-CHM13v2.02221,267,728 - 21,299,920 (+)NCBIT2T-CHM13v2.0
Snap29
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391617,223,864 - 17,248,690 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1617,223,850 - 17,248,691 (+)EnsemblGRCm39 Ensembl
GRCm381617,406,000 - 17,430,826 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1617,405,986 - 17,430,827 (+)EnsemblGRCm38mm10GRCm38
MGSCv371617,406,093 - 17,430,919 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361617,319,614 - 17,344,386 (+)NCBIMGSCv36mm8
Celera1617,978,957 - 18,003,859 (+)NCBICelera
Cytogenetic Map16A3NCBI
cM Map1610.79NCBI
Snap29
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81197,082,721 - 97,113,195 (-)NCBIGRCr8
mRatBN7.21183,578,479 - 83,608,953 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1183,578,489 - 83,608,958 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1192,306,158 - 92,336,737 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01184,967,310 - 84,997,887 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01184,020,918 - 84,051,495 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01187,827,633 - 87,858,107 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1187,827,651 - 87,858,107 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01190,883,352 - 90,914,051 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41185,579,141 - 85,609,842 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11185,619,738 - 85,650,439 (-)NCBI
Celera1182,342,398 - 82,372,753 (-)NCBICelera
Cytogenetic Map11q23NCBI
Snap29
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544219,419,821 - 19,446,665 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544219,419,381 - 19,446,782 (-)NCBIChiLan1.0ChiLan1.0
SNAP29
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22330,565,341 - 30,598,111 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12233,114,289 - 33,143,796 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0223,082,622 - 3,115,325 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12219,572,675 - 19,604,943 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2219,572,618 - 19,605,931 (+)Ensemblpanpan1.1panPan2
SNAP29
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12630,606,195 - 30,630,441 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2630,609,158 - 30,630,262 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2630,564,536 - 30,588,777 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02632,014,732 - 32,038,982 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2632,014,976 - 32,038,981 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12630,060,478 - 30,084,729 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02629,685,160 - 29,709,411 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02630,774,254 - 30,798,700 (-)NCBIUU_Cfam_GSD_1.0
Snap29
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118140,348,833 - 140,376,865 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366192,376,815 - 2,401,967 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366192,377,284 - 2,402,049 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SNAP29
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1450,492,187 - 50,511,456 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11450,492,187 - 50,511,475 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21453,940,923 - 53,955,920 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SNAP29
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1194,797,690 - 4,827,573 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl194,797,725 - 4,830,251 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660852,177,660 - 2,209,408 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Snap29
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624945801,833 - 837,564 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624945799,831 - 837,720 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SNAP29
303 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004782.4(SNAP29):c.58G>C (p.Ala20Pro) single nucleotide variant Inborn genetic diseases [RCV004037870]|not provided [RCV001507495] Chr22:20859168 [GRCh38]
Chr22:21213456 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.145G>A (p.Val49Ile) single nucleotide variant not provided [RCV001507496] Chr22:20859255 [GRCh38]
Chr22:21213543 [GRCh37]
Chr22:22q11.21		 uncertain significance
SNAP29, 1-BP DEL, 220G deletion CEDNIK syndrome [RCV000006097] Chr22:22q11.2 pathogenic
GRCh37/hg19 22q11.21(chr22:18894835-21464119) copy number gain Global developmental delay [RCV001291954] Chr22:18894835..21464119 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.16A>G (p.Lys6Glu) single nucleotide variant not provided [RCV001507492] Chr22:20859126 [GRCh38]
Chr22:21213414 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.22T>C (p.Tyr8His) single nucleotide variant not provided [RCV001507493] Chr22:20859132 [GRCh38]
Chr22:21213420 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.193G>C (p.Ala65Pro) single nucleotide variant not provided [RCV000517574] Chr22:20859303 [GRCh38]
Chr22:21213591 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000050271] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000050273] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22046408)x3 copy number gain See cases [RCV000050932] Chr22:20671366..22046408 [GRCh38]
Chr22:21025654..22400806 [GRCh37]
Chr22:19355654..20730806 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000050991] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000050992] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21207225)x1 copy number loss See cases [RCV000050893] Chr22:18389245..21207225 [GRCh38]
Chr22:20659547..21561514 [GRCh37]
Chr22:18989547..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000050550] Chr22:18339130..21151128 [GRCh38]
Chr22:18706001..21505417 [GRCh37]
Chr22:17086001..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20394686-21145682)x3 copy number gain See cases [RCV000050725] Chr22:20394686..21145682 [GRCh38]
Chr22:20748976..21499971 [GRCh37]
Chr22:19078976..19829971 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3 copy number gain See cases [RCV000050614] Chr22:16916608..21151128 [GRCh38]
Chr22:17397498..21505417 [GRCh37]
Chr22:15777498..19835417 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000050628] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000050387] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000050388] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050630]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050630]|See cases [RCV000050630] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 copy number loss See cases [RCV000050360] Chr22:18178957..21207225 [GRCh38]
Chr22:18661724..21561514 [GRCh37]
Chr22:17041724..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18145052-21086366)x1 copy number loss See cases [RCV000051271] Chr22:18145052..21086366 [GRCh38]
Chr22:18627819..21440655 [GRCh37]
Chr22:17007819..19770655 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 copy number loss See cases [RCV000051272] Chr22:18145252..21151128 [GRCh38]
Chr22:18628019..21505417 [GRCh37]
Chr22:17008019..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x3 copy number gain See cases [RCV000051273] Chr22:18167908..21101267 [GRCh38]
Chr22:18650675..21455556 [GRCh37]
Chr22:17030675..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x1 copy number loss See cases [RCV000051275] Chr22:18167908..21101267 [GRCh38]
Chr22:18650675..21455556 [GRCh37]
Chr22:17030675..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x3 copy number gain See cases [RCV000051276] Chr22:18177786..21101267 [GRCh38]
Chr22:18660553..21455556 [GRCh37]
Chr22:17040553..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x1 copy number loss See cases [RCV000051278] Chr22:18177786..21101267 [GRCh38]
Chr22:18660553..21455556 [GRCh37]
Chr22:17040553..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 copy number loss See cases [RCV000051283] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18188862-21182552)x1 copy number loss See cases [RCV000051286] Chr22:18188862..21182552 [GRCh38]
Chr22:18671629..21536841 [GRCh37]
Chr22:17051629..19866841 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000051295] Chr22:18339130..21151269 [GRCh38]
Chr22:18705801..21505558 [GRCh37]
Chr22:17085801..19835558 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|See cases [RCV000051296] Chr22:18339130..21086366 [GRCh38]
Chr22:18705801..21440655 [GRCh37]
Chr22:17085801..19770655 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss See cases [RCV000051298] Chr22:18339130..21454720 [GRCh38]
Chr22:18706001..21809009 [GRCh37]
Chr22:17086001..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000051301] Chr22:18339130..21107522 [GRCh38]
Chr22:18890271..21461811 [GRCh37]
Chr22:17270271..19791811 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21040441)x1 copy number loss See cases [RCV000051321] Chr22:18339130..21040441 [GRCh38]
Chr22:18890271..21394730 [GRCh37]
Chr22:17270271..19724730 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051323] Chr22:18339130..21086225 [GRCh38]
Chr22:18896972..21440514 [GRCh37]
Chr22:17276972..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000051324] Chr22:18339130..21086225 [GRCh38]
Chr22:18896972..21440514 [GRCh37]
Chr22:17276972..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 copy number loss See cases [RCV000051325] Chr22:18339130..21086366 [GRCh38]
Chr22:18919742..21440655 [GRCh37]
Chr22:17299742..19770655 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000051328] Chr22:18339130..21151269 [GRCh38]
Chr22:18919742..21505558 [GRCh37]
Chr22:17299742..19835558 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x3 copy number gain See cases [RCV000051094] Chr22:20726972..21151128 [GRCh38]
Chr22:21081260..21505417 [GRCh37]
Chr22:19411260..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x1 copy number loss See cases [RCV000051096] Chr22:20726972..21151128 [GRCh38]
Chr22:21081260..21505417 [GRCh37]
Chr22:19411260..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051023]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051023]|See cases [RCV000051023] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000051024] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 copy number gain See cases [RCV000051170] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 copy number loss See cases [RCV000051171] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x3 copy number gain See cases [RCV000051176] Chr22:20400132..21151128 [GRCh38]
Chr22:20754422..21505417 [GRCh37]
Chr22:19084422..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x1 copy number loss See cases [RCV000051177] Chr22:20400132..21151128 [GRCh38]
Chr22:20754422..21505417 [GRCh37]
Chr22:19084422..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18169870-21559889)x3 copy number gain See cases [RCV000051918] Chr22:18169870..21559889 [GRCh38]
Chr22:18652637..21914178 [GRCh37]
Chr22:17032637..20244178 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 copy number gain See cases [RCV000051942] Chr22:18339130..21101267 [GRCh38]
Chr22:18950766..21455556 [GRCh37]
Chr22:17330766..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000051944] Chr22:18339130..21207225 [GRCh38]
Chr22:20402633..21561514 [GRCh37]
Chr22:18782633..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20604697-21025669)x3 copy number gain See cases [RCV000051960] Chr22:20604697..21025669 [GRCh38]
Chr22:20958984..21379958 [GRCh37]
Chr22:19288984..19709958 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3 copy number gain See cases [RCV000051961] Chr22:20668552..22358488 [GRCh38]
Chr22:21022840..22712836 [GRCh37]
Chr22:19352840..21042836 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21(chr22:20690750-21101267)x3 copy number gain See cases [RCV000051962] Chr22:20690750..21101267 [GRCh38]
Chr22:21045038..21455556 [GRCh37]
Chr22:19375038..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20726972-21207225)x3 copy number gain See cases [RCV000051963] Chr22:20726972..21207225 [GRCh38]
Chr22:21081260..21561514 [GRCh37]
Chr22:19411260..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20732418-21091671)x3 copy number gain See cases [RCV000051964] Chr22:20732418..21091671 [GRCh38]
Chr22:21086706..21445960 [GRCh37]
Chr22:19416706..19775960 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21056995)x3 copy number gain See cases [RCV000051919] Chr22:18339130..21056995 [GRCh38]
Chr22:18704554..21411284 [GRCh37]
Chr22:17084554..19741284 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207381)x3 copy number gain See cases [RCV000051920] Chr22:18339130..21207381 [GRCh38]
Chr22:18705801..21561670 [GRCh37]
Chr22:17085801..19891670 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000051937] Chr22:18339130..21151128 [GRCh38]
Chr22:18890271..21505417 [GRCh37]
Chr22:17270271..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000051938] Chr22:18339130..21207225 [GRCh38]
Chr22:18890271..21561514 [GRCh37]
Chr22:17270271..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21444466)x3 copy number gain See cases [RCV000051939] Chr22:18339130..21444466 [GRCh38]
Chr22:18909038..21798755 [GRCh37]
Chr22:17289038..20128755 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051940] Chr22:18339130..21086225 [GRCh38]
Chr22:18909038..21440514 [GRCh37]
Chr22:17289038..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000053047] Chr22:18339130..21107522 [GRCh38]
Chr22:19035017..21461811 [GRCh37]
Chr22:17415017..19791811 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053048]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053048]|See cases [RCV000053048] Chr22:18339130..21151128 [GRCh38]
Chr22:19358153..21505417 [GRCh37]
Chr22:17738153..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20354600-21053401)x1 copy number loss See cases [RCV000053050] Chr22:20354600..21053401 [GRCh38]
Chr22:20708890..21407690 [GRCh37]
Chr22:19038890..19737690 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20363880-21073647)x1 copy number loss See cases [RCV000053053] Chr22:20363880..21073647 [GRCh38]
Chr22:20718170..21427936 [GRCh37]
Chr22:19048170..19757936 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20379137-21151128)x1 copy number loss See cases [RCV000053055] Chr22:20379137..21151128 [GRCh38]
Chr22:20733427..21505417 [GRCh37]
Chr22:19063427..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20711594-21101267)x1 copy number loss See cases [RCV000053058] Chr22:20711594..21101267 [GRCh38]
Chr22:21065882..21455556 [GRCh37]
Chr22:19395882..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726772-23135971)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|See cases [RCV000053061] Chr22:20726772..23135971 [GRCh38]
Chr22:21081060..23478158 [GRCh37]
Chr22:19411060..21808158 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053015] Chr22:18339130..21101267 [GRCh38]
Chr22:18938161..21455556 [GRCh37]
Chr22:17318161..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053027] Chr22:18339130..21101267 [GRCh38]
Chr22:18962313..21455556 [GRCh37]
Chr22:17342313..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053029] Chr22:18339130..21101267 [GRCh38]
Chr22:18999803..21455556 [GRCh37]
Chr22:17379803..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000053032] Chr22:18339130..21151128 [GRCh38]
Chr22:19029602..21505417 [GRCh37]
Chr22:17409602..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000053006] Chr22:18339130..21151269 [GRCh38]
Chr22:18919942..21505558 [GRCh37]
Chr22:17299942..19835558 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 copy number gain See cases [RCV000053012] Chr22:18339130..21101267 [GRCh38]
Chr22:18938161..21455556 [GRCh37]
Chr22:17318161..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
NM_004782.3(SNAP29):c.606C>T (p.Ile202=) single nucleotide variant Malignant melanoma [RCV000072894] Chr22:20883556 [GRCh38]
Chr22:21237844 [GRCh37]
Chr22:19567844 [NCBI36]
Chr22:22q11.21		 not provided
GRCh37/hg19 22q11.21(chr22:20733495-21463730)x1 copy number loss See cases [RCV000663402] Chr22:20733495..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.487dup (p.Ser163fs) duplication CEDNIK syndrome [RCV000043503]|not provided [RCV000727658] Chr22:20881100..20881101 [GRCh38]
Chr22:21235388..21235389 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21811991)x1 copy number loss See cases [RCV000663399] Chr22:18886915..21811991 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x3 copy number gain See cases [RCV000133642] Chr22:18389245..21086225 [GRCh38]
Chr22:20659547..21440514 [GRCh37]
Chr22:18989547..19770514 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x1 copy number loss See cases [RCV000133643] Chr22:18389245..21086225 [GRCh38]
Chr22:20659547..21440514 [GRCh37]
Chr22:18989547..19770514 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
NM_004782.4(SNAP29):c.661C>T (p.Leu221=) single nucleotide variant not provided [RCV003104464] Chr22:20887720 [GRCh38]
Chr22:21242008 [GRCh37]
Chr22:22q11.21		 likely benign
Single allele deletion Epilepsy [RCV001293366] Chr22:18889490..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051023] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18909044-21464119) copy number gain Cryptorchidism [RCV001291958] Chr22:18909044..21464119 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x4 copy number gain See cases [RCV000133889] Chr22:18339130..21151128 [GRCh38]
Chr22:18894835..21505417 [GRCh37]
Chr22:17274835..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000133890] Chr22:18339130..21151128 [GRCh38]
Chr22:18894835..21505417 [GRCh37]
Chr22:17274835..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000133880] Chr22:18339130..21207225 [GRCh38]
Chr22:18894835..21561514 [GRCh37]
Chr22:17274835..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000133881] Chr22:18339130..21207225 [GRCh38]
Chr22:18894835..21561514 [GRCh37]
Chr22:17274835..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000133887] Chr22:18339130..21151128 [GRCh38]
Chr22:18894835..21505417 [GRCh37]
Chr22:17274835..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss See cases [RCV000050630] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20400132-21086225)x1 copy number loss See cases [RCV000133629] Chr22:20400132..21086225 [GRCh38]
Chr22:20754422..21440514 [GRCh37]
Chr22:19084422..19770514 [NCBI36]
Chr22:22q11.21		 conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x3 copy number gain See cases [RCV000134519] Chr22:18339130..21107463 [GRCh38]
Chr22:18894835..21461752 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x1 copy number loss See cases [RCV000134520] Chr22:18339130..21107463 [GRCh38]
Chr22:18894835..21461752 [GRCh37]
Chr22:17274835..19791752 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20726972-21086166)x3 copy number gain See cases [RCV000134521] Chr22:20726972..21086166 [GRCh38]
Chr22:21081260..21440455 [GRCh37]
Chr22:19411260..19770455 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20711594-21583391)x1 copy number loss See cases [RCV000134522] Chr22:20711594..21583391 [GRCh38]
Chr22:21065882..21937680 [GRCh37]
Chr22:19395882..20267680 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x3 copy number gain See cases [RCV000134128] Chr22:18178932..21151156 [GRCh38]
Chr22:18661699..21505445 [GRCh37]
Chr22:17041699..19835445 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x1 copy number loss See cases [RCV000134130] Chr22:18178932..21151156 [GRCh38]
Chr22:18661699..21505445 [GRCh37]
Chr22:17041699..19835445 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x3 copy number gain See cases [RCV000134084] Chr22:18339130..21086226 [GRCh38]
Chr22:18894820..21440515 [GRCh37]
Chr22:17274820..19770515 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x1 copy number loss See cases [RCV000134085] Chr22:18339130..21086226 [GRCh38]
Chr22:18894820..21440515 [GRCh37]
Chr22:17274820..19770515 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18168847-21086166)x3 copy number gain See cases [RCV000135308] Chr22:18168847..21086166 [GRCh38]
Chr22:18651614..21440455 [GRCh37]
Chr22:17031614..19770455 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22088366)x3 copy number gain See cases [RCV000134888] Chr22:20671366..22088366 [GRCh38]
Chr22:21025654..22442778 [GRCh37]
Chr22:19355654..20772778 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1 copy number loss See cases [RCV000134837] Chr22:18145380..21086226 [GRCh38]
Chr22:18628147..21440515 [GRCh37]
Chr22:17008147..19770515 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x3 copy number gain See cases [RCV000135519] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20671366-21151128)x4 copy number gain See cases [RCV000135614] Chr22:20671366..21151128 [GRCh38]
Chr22:21025654..21505417 [GRCh37]
Chr22:19355654..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000135456] Chr22:18339130..21207225 [GRCh38]
Chr22:19058829..21561514 [GRCh37]
Chr22:17438829..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3 copy number gain See cases [RCV000136518] Chr22:18178957..21307146 [GRCh38]
Chr22:18661724..21661435 [GRCh37]
Chr22:17041724..19991435 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000136527] Chr22:18339130..21151128 [GRCh38]
Chr22:20311704..21505417 [GRCh37]
Chr22:18691704..19835417 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:20354600-21207225)x3 copy number gain See cases [RCV000136542] Chr22:20354600..21207225 [GRCh38]
Chr22:20708890..21561514 [GRCh37]
Chr22:19038890..19891514 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21003834)x3 copy number gain See cases [RCV000135898] Chr22:18339130..21003834 [GRCh38]
Chr22:18908832..21358123 [GRCh37]
Chr22:17288832..19688123 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20400117-21086226)x1 copy number loss See cases [RCV000136039] Chr22:20400117..21086226 [GRCh38]
Chr22:20754407..21440515 [GRCh37]
Chr22:19084407..19770515 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 copy number loss See cases [RCV000136889] Chr22:20726972..24197852 [GRCh38]
Chr22:21081260..24593820 [GRCh37]
Chr22:19411260..22923820 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21028664)x1 copy number loss See cases [RCV000136808] Chr22:18339130..21028664 [GRCh38]
Chr22:18896972..21382953 [GRCh37]
Chr22:17276972..19712953 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000136677] Chr22:18339130..21086225 [GRCh38]
Chr22:19058829..21440514 [GRCh37]
Chr22:17438829..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21441926)x1 copy number loss See cases [RCV000136758] Chr22:18339130..21441926 [GRCh38]
Chr22:18891526..21796215 [GRCh37]
Chr22:17271526..20126215 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21107522)x1 copy number loss See cases [RCV000137504] Chr22:18178957..21107522 [GRCh38]
Chr22:18661724..21461811 [GRCh37]
Chr22:17041724..19791811 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000138187] Chr22:18339130..21454720 [GRCh38]
Chr22:18894835..21809009 [GRCh37]
Chr22:17274835..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18145252-21109830)x1 copy number loss See cases [RCV000137985] Chr22:18145252..21109830 [GRCh38]
Chr22:18628019..21464119 [GRCh37]
Chr22:17008019..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000138169] Chr22:18339130..21107522 [GRCh38]
Chr22:18894835..21461811 [GRCh37]
Chr22:17274835..19791811 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21454720)x3 copy number gain See cases [RCV000137927] Chr22:18389245..21454720 [GRCh38]
Chr22:20659547..21809009 [GRCh37]
Chr22:18989547..20139009 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000137960] Chr22:18339130..21109830 [GRCh38]
Chr22:18894835..21464119 [GRCh37]
Chr22:17274835..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20378147-21151128)x1 copy number loss See cases [RCV000138684] Chr22:20378147..21151128 [GRCh38]
Chr22:20732437..21505417 [GRCh37]
Chr22:19062437..19835417 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18178957-21109830)x1 copy number loss See cases [RCV000138671] Chr22:18178957..21109830 [GRCh38]
Chr22:18661724..21464119 [GRCh37]
Chr22:17041724..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20812202-21053392)x3 copy number gain See cases [RCV000138791] Chr22:20812202..21053392 [GRCh38]
Chr22:21166490..21407681 [GRCh37]
Chr22:19496490..19737681 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000138354] Chr22:18339130..21109830 [GRCh38]
Chr22:18706001..21464119 [GRCh37]
Chr22:17086001..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3 copy number gain See cases [RCV000139316] Chr22:18178932..22562620 [GRCh38]
Chr22:18661699..22905025 [GRCh37]
Chr22:17041699..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21(chr22:20711594-21151128)x3 copy number gain See cases [RCV000139254] Chr22:20711594..21151128 [GRCh38]
Chr22:21065882..21505417 [GRCh37]
Chr22:19395882..19835417 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:20711594-21151128)x1 copy number loss See cases [RCV000139255] Chr22:20711594..21151128 [GRCh38]
Chr22:21065882..21505417 [GRCh37]
Chr22:19395882..19835417 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21151156)x3 copy number gain See cases [RCV000139000] Chr22:18339130..21151156 [GRCh38]
Chr22:18894820..21505445 [GRCh37]
Chr22:17274820..19835445 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20375098-21111370)x3 copy number gain See cases [RCV000140073] Chr22:20375098..21111370 [GRCh38]
Chr22:20729388..21465659 [GRCh37]
Chr22:19059388..19795659 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x3 copy number gain See cases [RCV000139955] Chr22:18339130..21111373 [GRCh38]
Chr22:18916828..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21107463)x3 copy number gain See cases [RCV000141416] Chr22:18178957..21107463 [GRCh38]
Chr22:18661724..21461752 [GRCh37]
Chr22:17041724..19791752 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1 copy number loss See cases [RCV000141233] Chr22:18339130..23480799 [GRCh38]
Chr22:20279766..23822986 [GRCh37]
Chr22:18659766..22152986 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000140853] Chr22:18339130..21109830 [GRCh38]
Chr22:19035323..21464119 [GRCh37]
Chr22:17415323..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20400132-21107463)x1 copy number loss See cases [RCV000140771] Chr22:20400132..21107463 [GRCh38]
Chr22:20754422..21461752 [GRCh37]
Chr22:19084422..19791752 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101210)x1 copy number loss See cases [RCV000140773] Chr22:18339130..21101210 [GRCh38]
Chr22:18999803..21455499 [GRCh37]
Chr22:17379803..19785499 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20540868-21020223)x3 copy number gain See cases [RCV000141594] Chr22:20540868..21020223 [GRCh38]
Chr22:20895155..21374512 [GRCh37]
Chr22:19225155..19704512 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000141704] Chr22:18339130..21111370 [GRCh38]
Chr22:18916828..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18157962-21111370)x3 copy number gain See cases [RCV000141737] Chr22:18157962..21111370 [GRCh38]
Chr22:18640729..21465659 [GRCh37]
Chr22:17020729..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20980781)x1 copy number loss See cases [RCV000141782] Chr22:18339130..20980781 [GRCh38]
Chr22:20277314..21335070 [GRCh37]
Chr22:18657314..19665070 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21450597)x1 copy number loss See cases [RCV000141677] Chr22:18339130..21450597 [GRCh38]
Chr22:18916842..21804886 [GRCh37]
Chr22:17296842..20134886 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18166089-21111373)x1 copy number loss See cases [RCV000142253] Chr22:18166089..21111373 [GRCh38]
Chr22:18648856..21465662 [GRCh37]
Chr22:17028856..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000142073] Chr22:18339130..21111370 [GRCh38]
Chr22:19024656..21465659 [GRCh37]
Chr22:17404656..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18161474-21111373)x1 copy number loss See cases [RCV000142151] Chr22:18161474..21111373 [GRCh38]
Chr22:18644241..21465662 [GRCh37]
Chr22:17024241..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20363364-21111373)x1 copy number loss See cases [RCV000142113] Chr22:20363364..21111373 [GRCh38]
Chr22:20717654..21465662 [GRCh37]
Chr22:19047654..19795662 [NCBI36]
Chr22:22q11.21		 uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20362587-21111370)x3 copy number gain See cases [RCV000142179] Chr22:20362587..21111370 [GRCh38]
Chr22:20716877..21465659 [GRCh37]
Chr22:19046877..19795659 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:20378147-21151128)x3 copy number gain See cases [RCV000142883] Chr22:20378147..21151128 [GRCh38]
Chr22:20732437..21505417 [GRCh37]
Chr22:19062437..19835417 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18389245-21109830)x1 copy number loss See cases [RCV000142988] Chr22:18389245..21109830 [GRCh38]
Chr22:20659547..21464119 [GRCh37]
Chr22:18989547..19794119 [NCBI36]
Chr22:22q11.21		 likely pathogenic|uncertain significance
GRCh38/hg38 22q11.21(chr22:18389245-21151128)x1 copy number loss See cases [RCV000142670] Chr22:18389245..21151128 [GRCh38]
Chr22:20659547..21505417 [GRCh37]
Chr22:18989547..19835417 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1 copy number loss See cases [RCV000142783] Chr22:18178957..21454720 [GRCh38]
Chr22:18661724..21809009 [GRCh37]
Chr22:17041724..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1 copy number loss See cases [RCV000142734] Chr22:18339130..21307146 [GRCh38]
Chr22:18765085..21661435 [GRCh37]
Chr22:17145085..19991435 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3 copy number gain See cases [RCV000142641] Chr22:18339130..21447315 [GRCh38]
Chr22:18919942..21801604 [GRCh37]
Chr22:17299942..20131604 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143362] Chr22:18339130..21111373 [GRCh38]
Chr22:18916827..21465662 [GRCh37]
Chr22:17296827..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 copy number gain See cases [RCV000143391] Chr22:18339130..21111370 [GRCh38]
Chr22:18916828..21465659 [GRCh37]
Chr22:17296828..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143442] Chr22:18339130..21111373 [GRCh38]
Chr22:18970561..21465662 [GRCh37]
Chr22:17350561..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143225] Chr22:18339130..21111373 [GRCh38]
Chr22:18916842..21465662 [GRCh37]
Chr22:17296842..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000143293] Chr22:18339130..21111370 [GRCh38]
Chr22:18876630..21465659 [GRCh37]
Chr22:17256630..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 copy number gain See cases [RCV000143229] Chr22:18339130..21111370 [GRCh38]
Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000143234] Chr22:18339130..21111370 [GRCh38]
Chr22:18916842..21465659 [GRCh37]
Chr22:17296842..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143126] Chr22:18339130..21111373 [GRCh38]
Chr22:18916828..21465662 [GRCh37]
Chr22:17296828..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000148047] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20726972-21207225)x3 copy number gain See cases [RCV000148048] Chr22:20726972..21207225 [GRCh38]
Chr22:21081260..21561514 [GRCh37]
Chr22:19411260..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20705381-21111370)x1 copy number loss See cases [RCV000143539] Chr22:20705381..21111370 [GRCh38]
Chr22:21059669..21465659 [GRCh37]
Chr22:19389669..19795659 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 copy number gain See cases [RCV000148257] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000148103] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000148104] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000148206] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x3 copy number gain See cases [RCV000148207] Chr22:20726972..21151128 [GRCh38]
Chr22:21081260..21505417 [GRCh37]
Chr22:19411260..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x1 copy number loss See cases [RCV000148143] Chr22:20400132..21151128 [GRCh38]
Chr22:20754422..21505417 [GRCh37]
Chr22:19084422..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x1 copy number loss See cases [RCV000148144] Chr22:20726972..21151128 [GRCh38]
Chr22:21081260..21505417 [GRCh37]
Chr22:19411260..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000148160] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000148136] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x3 copy number gain See cases [RCV000148138] Chr22:20400132..21151128 [GRCh38]
Chr22:20754422..21505417 [GRCh37]
Chr22:19084422..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 copy number loss See cases [RCV000148140] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 copy number loss See cases [RCV000148178] Chr22:18145252..21151128 [GRCh38]
Chr22:18628019..21505417 [GRCh37]
Chr22:17008019..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 copy number loss See cases [RCV000148186] Chr22:18178957..21207225 [GRCh38]
Chr22:18661724..21561514 [GRCh37]
Chr22:17041724..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 copy number loss See cases [RCV000148098] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000148100] Chr22:18339130..21151128 [GRCh38]
Chr22:18706001..21505417 [GRCh37]
Chr22:17086001..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000148101] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000148102] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1 copy number loss See cases [RCV000240250] Chr22:20749625..23972878 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21440514)x1 copy number loss See cases [RCV000240142] Chr22:18894339..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18900442-21440514)x1 copy number loss See cases [RCV000240087] Chr22:18900442..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.85C>T (p.Arg29Ter) single nucleotide variant not provided [RCV000270606] Chr22:20859195 [GRCh38]
Chr22:21213483 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17012935-21431054)x4 copy number gain See cases [RCV000258792] Chr22:17012935..21431054 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20958986-21440514)x3 copy number gain See cases [RCV000239800] Chr22:20958986..21440514 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18919579-21460595)x1 copy number loss See cases [RCV000258811] Chr22:18919579..21460595 [GRCh37]
Chr22:22q11.21		 pathogenic|likely pathogenic
NM_004782.4(SNAP29):c.223del (p.Val75fs) deletion CEDNIK syndrome [RCV000210470] Chr22:20859330 [GRCh38]
Chr22:21213618 [GRCh37]
Chr22:22q11.21		 pathogenic|likely pathogenic
NM_004782.4(SNAP29):c.487A>G (p.Ser163Gly) single nucleotide variant CEDNIK syndrome [RCV000402480]|not provided [RCV000224672] Chr22:20881101 [GRCh38]
Chr22:21235389 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_004782.4(SNAP29):c.265G>A (p.Glu89Lys) single nucleotide variant CEDNIK syndrome [RCV001149421]|SNAP29-related disorder [RCV003929927]|not provided [RCV000224707] Chr22:20870364 [GRCh38]
Chr22:21224652 [GRCh37]
Chr22:22q11.21		 benign|likely benign
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1		 benign
GRCh37/hg19 22q11.21(chr22:18894835-21440514)x1 copy number loss See cases [RCV000239867] Chr22:18894835..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21463730)x1 copy number loss See cases [RCV000239417] Chr22:18844632..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:21056165-21440514)x3 copy number gain See cases [RCV000240021] Chr22:21056165..21440514 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18650664-21440514)x3 copy number gain See cases [RCV000240570] Chr22:18650664..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.51C>G (p.Asp17Glu) single nucleotide variant Inborn genetic diseases [RCV002564198]|not provided [RCV001507494] Chr22:20859161 [GRCh38]
Chr22:21213449 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3 copy number gain See cases [RCV000240483] Chr22:17264511..23238029 [GRCh37]
Chr22:22q11.1-11.22		 pathogenic
GRCh37/hg19 22q11.21(chr22:21074920-21440514)x1 copy number loss See cases [RCV000240353] Chr22:21074920..21440514 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:19023801-21440514)x1 copy number loss See cases [RCV000240303] Chr22:19023801..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.6A>G (p.Ser2=) single nucleotide variant CEDNIK syndrome [RCV000283266]|not provided [RCV003678995] Chr22:20859116 [GRCh38]
Chr22:21213404 [GRCh37]
Chr22:22q11.21		 likely benign|uncertain significance
NM_004782.4(SNAP29):c.*2961T>C single nucleotide variant CEDNIK syndrome [RCV000260348]|not provided [RCV004712256] Chr22:20890797 [GRCh38]
Chr22:21245085 [GRCh37]
Chr22:22q11.21		 benign
NM_004782.4(SNAP29):c.*2944del deletion CEDNIK syndrome [RCV000277949] Chr22:20890759 [GRCh38]
Chr22:21245047 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2564dup duplication CEDNIK syndrome [RCV000280622] Chr22:20890397..20890398 [GRCh38]
Chr22:21244685..21244686 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.18A>G (p.Lys6=) single nucleotide variant CEDNIK syndrome [RCV000342922]|not provided [RCV000713380]|not specified [RCV000444231] Chr22:20859128 [GRCh38]
Chr22:21213416 [GRCh37]
Chr22:22q11.21		 benign|no classifications from unflagged records
NM_004782.4(SNAP29):c.*840G>C single nucleotide variant CEDNIK syndrome [RCV000270027]|not provided [RCV004694661] Chr22:20888676 [GRCh38]
Chr22:21242964 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.234C>G (p.Ser78=) single nucleotide variant CEDNIK syndrome [RCV000307751]|not provided [RCV000884370]|not specified [RCV000518801] Chr22:20859344 [GRCh38]
Chr22:21213632 [GRCh37]
Chr22:22q11.21		 benign|likely benign|uncertain significance
NM_004782.4(SNAP29):c.*2143G>A single nucleotide variant CEDNIK syndrome [RCV000272693] Chr22:20889979 [GRCh38]
Chr22:21244267 [GRCh37]
Chr22:22q11.21		 likely benign|uncertain significance
NM_004782.4(SNAP29):c.2T>C (p.Met1Thr) single nucleotide variant CEDNIK syndrome [RCV002251740]|Hypomyelinating leukodystrophy 2 [RCV000454300]|not provided [RCV000280099] Chr22:20859112 [GRCh38]
Chr22:21213400 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) duplication CEDNIK syndrome [RCV000778648]|Hypomyelinating leukodystrophy 2 [RCV000454232]|Inborn genetic diseases [RCV002519036]|not provided [RCV000280604] Chr22:20870447..20870448 [GRCh38]
Chr22:21224735..21224736 [GRCh37]
Chr22:22q11.21		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004782.4(SNAP29):c.*780G>T single nucleotide variant CEDNIK syndrome [RCV000323769] Chr22:20888616 [GRCh38]
Chr22:21242904 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.550A>G (p.Met184Val) single nucleotide variant CEDNIK syndrome [RCV000367997]|Inborn genetic diseases [RCV003243096] Chr22:20883500 [GRCh38]
Chr22:21237788 [GRCh37]
Chr22:22q11.21		 likely benign|uncertain significance
NM_004782.4(SNAP29):c.*2179G>A single nucleotide variant CEDNIK syndrome [RCV000368373] Chr22:20890015 [GRCh38]
Chr22:21244303 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.580C>T (p.His194Tyr) single nucleotide variant CEDNIK syndrome [RCV000273351] Chr22:20883530 [GRCh38]
Chr22:21237818 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2261G>A single nucleotide variant CEDNIK syndrome [RCV000273432] Chr22:20890097 [GRCh38]
Chr22:21244385 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*515_*522del deletion CEDNIK syndrome [RCV000311933]|not provided [RCV004694658] Chr22:20888350..20888357 [GRCh38]
Chr22:21242638..21242645 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2879C>T single nucleotide variant CEDNIK syndrome [RCV000312730]|not provided [RCV004712255] Chr22:20890715 [GRCh38]
Chr22:21245003 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_004782.4(SNAP29):c.*2052A>T single nucleotide variant CEDNIK syndrome [RCV000361373] Chr22:20889888 [GRCh38]
Chr22:21244176 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.643C>T (p.Arg215Cys) single nucleotide variant CEDNIK syndrome [RCV000314485]|Inborn genetic diseases [RCV003278778] Chr22:20887702 [GRCh38]
Chr22:21241990 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2856G>A single nucleotide variant CEDNIK syndrome [RCV000366301] Chr22:20890692 [GRCh38]
Chr22:21244980 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_004782.4(SNAP29):c.*2411T>C single nucleotide variant CEDNIK syndrome [RCV000279313] Chr22:20890247 [GRCh38]
Chr22:21244535 [GRCh37]
Chr22:22q11.21		 likely benign|uncertain significance
NM_004782.4(SNAP29):c.*1589T>C single nucleotide variant CEDNIK syndrome [RCV000278730] Chr22:20889425 [GRCh38]
Chr22:21243713 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*3015G>A single nucleotide variant CEDNIK syndrome [RCV000320178]|not provided [RCV004712257] Chr22:20890851 [GRCh38]
Chr22:21245139 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_004782.4(SNAP29):c.*123G>C single nucleotide variant CEDNIK syndrome [RCV000369346]|not provided [RCV001712130] Chr22:20887959 [GRCh38]
Chr22:21242247 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_004782.4(SNAP29):c.*2816A>G single nucleotide variant CEDNIK syndrome [RCV000306894]|not provided [RCV004712254] Chr22:20890652 [GRCh38]
Chr22:21244940 [GRCh37]
Chr22:22q11.21		 benign
NM_004782.4(SNAP29):c.-19C>T single nucleotide variant CEDNIK syndrome [RCV000282177]|not provided [RCV001672608]|not specified [RCV000433662] Chr22:20859092 [GRCh38]
Chr22:21213380 [GRCh37]
Chr22:22q11.21		 benign|no classifications from unflagged records
NM_004782.4(SNAP29):c.-32C>G single nucleotide variant CEDNIK syndrome [RCV000372046]|not provided [RCV001584045] Chr22:20859079 [GRCh38]
Chr22:21213367 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_004782.4(SNAP29):c.*2551G>A single nucleotide variant CEDNIK syndrome [RCV000375019] Chr22:20890387 [GRCh38]
Chr22:21244675 [GRCh37]
Chr22:22q11.21		 benign|uncertain significance
NM_004782.4(SNAP29):c.*255G>A single nucleotide variant CEDNIK syndrome [RCV000375091] Chr22:20888091 [GRCh38]
Chr22:21242379 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*1563T>G single nucleotide variant CEDNIK syndrome [RCV000351302]|not provided [RCV004712250] Chr22:20889399 [GRCh38]
Chr22:21243687 [GRCh37]
Chr22:22q11.21		 benign
NM_004782.4(SNAP29):c.*1061C>T single nucleotide variant CEDNIK syndrome [RCV000325040] Chr22:20888897 [GRCh38]
Chr22:21243185 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.-5G>A single nucleotide variant CEDNIK syndrome [RCV000377736]|not provided [RCV001558736]|not specified [RCV000516705] Chr22:20859106 [GRCh38]
Chr22:21213394 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_004782.4(SNAP29):c.*477AC[24] microsatellite CEDNIK syndrome [RCV000285871]|not provided [RCV004694656] Chr22:20888311..20888312 [GRCh38]
Chr22:21242599..21242600 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2783C>T single nucleotide variant CEDNIK syndrome [RCV000287042] Chr22:20890619 [GRCh38]
Chr22:21244907 [GRCh37]
Chr22:22q11.21		 benign|uncertain significance
NM_004782.4(SNAP29):c.*3193G>A single nucleotide variant CEDNIK syndrome [RCV000378484] Chr22:20891029 [GRCh38]
Chr22:21245317 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*1490T>C single nucleotide variant CEDNIK syndrome [RCV000331061] Chr22:20889326 [GRCh38]
Chr22:21243614 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_004782.4(SNAP29):c.*2872G>A single nucleotide variant CEDNIK syndrome [RCV000403610] Chr22:20890708 [GRCh38]
Chr22:21244996 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_004782.4(SNAP29):c.*3252T>G single nucleotide variant CEDNIK syndrome [RCV000288728] Chr22:20891088 [GRCh38]
Chr22:21245376 [GRCh37]
Chr22:22q11.21		 likely benign|uncertain significance
NM_004782.4(SNAP29):c.*1129T>C single nucleotide variant CEDNIK syndrome [RCV000384409]|not provided [RCV004712248] Chr22:20888965 [GRCh38]
Chr22:21243253 [GRCh37]
Chr22:22q11.21		 benign
NM_004782.4(SNAP29):c.*1315C>G single nucleotide variant CEDNIK syndrome [RCV000290048] Chr22:20889151 [GRCh38]
Chr22:21243439 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.-76G>A single nucleotide variant CEDNIK syndrome [RCV000333434]|not provided [RCV004694655] Chr22:20859035 [GRCh38]
Chr22:21213323 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2261G>T single nucleotide variant CEDNIK syndrome [RCV000333262]|not provided [RCV004712252] Chr22:20890097 [GRCh38]
Chr22:21244385 [GRCh37]
Chr22:22q11.21		 benign
NM_004782.4(SNAP29):c.*477AC[23] microsatellite CEDNIK syndrome [RCV000380452] Chr22:20888311..20888312 [GRCh38]
Chr22:21242599..21242600 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.-8C>G single nucleotide variant CEDNIK syndrome [RCV000337114]|not provided [RCV001546159]|not specified [RCV000503693] Chr22:20859103 [GRCh38]
Chr22:21213391 [GRCh37]
Chr22:22q11.21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004782.4(SNAP29):c.*1667G>A single nucleotide variant CEDNIK syndrome [RCV000338355] Chr22:20889503 [GRCh38]
Chr22:21243791 [GRCh37]
Chr22:22q11.21		 likely benign|uncertain significance
NM_004782.4(SNAP29):c.*2795C>T single nucleotide variant CEDNIK syndrome [RCV000391387] Chr22:20890631 [GRCh38]
Chr22:21244919 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_004782.4(SNAP29):c.*2777G>A single nucleotide variant CEDNIK syndrome [RCV000391389] Chr22:20890613 [GRCh38]
Chr22:21244901 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*3107C>T single nucleotide variant CEDNIK syndrome [RCV000266221] Chr22:20890943 [GRCh38]
Chr22:21245231 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*614C>G single nucleotide variant CEDNIK syndrome [RCV000358811] Chr22:20888450 [GRCh38]
Chr22:21242738 [GRCh37]
Chr22:22q11.21		 likely benign|uncertain significance
NM_004782.4(SNAP29):c.-68A>T single nucleotide variant CEDNIK syndrome [RCV000295212]|not provided [RCV004712243] Chr22:20859043 [GRCh38]
Chr22:21213331 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_004782.4(SNAP29):c.*1543A>C single nucleotide variant CEDNIK syndrome [RCV000296403] Chr22:20889379 [GRCh38]
Chr22:21243667 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2791T>C single nucleotide variant CEDNIK syndrome [RCV000342023] Chr22:20890627 [GRCh38]
Chr22:21244915 [GRCh37]
Chr22:22q11.21		 benign|uncertain significance
NM_004782.4(SNAP29):c.*1519T>C single nucleotide variant CEDNIK syndrome [RCV000385608]|not provided [RCV004712249] Chr22:20889355 [GRCh38]
Chr22:21243643 [GRCh37]
Chr22:22q11.21		 benign
NM_004782.4(SNAP29):c.*138C>T single nucleotide variant CEDNIK syndrome [RCV000260517]|not provided [RCV004712244] Chr22:20887974 [GRCh38]
Chr22:21242262 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_004782.4(SNAP29):c.*517_*522del deletion CEDNIK syndrome [RCV000298898]|not provided [RCV004694659] Chr22:20888352..20888357 [GRCh38]
Chr22:21242640..21242645 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.240G>A (p.Glu80=) single nucleotide variant CEDNIK syndrome [RCV000343944]|not provided [RCV003765975] Chr22:20870339 [GRCh38]
Chr22:21224627 [GRCh37]
Chr22:22q11.21		 likely benign|uncertain significance
NM_004782.4(SNAP29):c.*2501G>A single nucleotide variant CEDNIK syndrome [RCV000315780] Chr22:20890337 [GRCh38]
Chr22:21244625 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*519A>T single nucleotide variant CEDNIK syndrome [RCV000263797] Chr22:20888355 [GRCh38]
Chr22:21242643 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*740C>T single nucleotide variant CEDNIK syndrome [RCV000264040]|not provided [RCV004712247] Chr22:20888576 [GRCh38]
Chr22:21242864 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_004782.4(SNAP29):c.*521T>A single nucleotide variant CEDNIK syndrome [RCV000300230]|not provided [RCV004712246] Chr22:20888357 [GRCh38]
Chr22:21242645 [GRCh37]
Chr22:22q11.21		 benign
NM_004782.4(SNAP29):c.*1789C>A single nucleotide variant CEDNIK syndrome [RCV000402604] Chr22:20889625 [GRCh38]
Chr22:21243913 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2111G>T single nucleotide variant CEDNIK syndrome [RCV000362425] Chr22:20889947 [GRCh38]
Chr22:21244235 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*420A>G single nucleotide variant CEDNIK syndrome [RCV000266039]|not provided [RCV004712245] Chr22:20888256 [GRCh38]
Chr22:21242544 [GRCh37]
Chr22:22q11.21		 benign
NM_004782.4(SNAP29):c.*2028G>A single nucleotide variant CEDNIK syndrome [RCV000302015] Chr22:20889864 [GRCh38]
Chr22:21244152 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) single nucleotide variant CEDNIK syndrome [RCV000405531]|not provided [RCV000974375]|not specified [RCV000516649] Chr22:20859240 [GRCh38]
Chr22:21213528 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_004782.4(SNAP29):c.*2105T>G single nucleotide variant CEDNIK syndrome [RCV000405980]|not provided [RCV004712251] Chr22:20889941 [GRCh38]
Chr22:21244229 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_004782.4(SNAP29):c.*1570T>C single nucleotide variant CEDNIK syndrome [RCV000407668] Chr22:20889406 [GRCh38]
Chr22:21243694 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2692C>T single nucleotide variant CEDNIK syndrome [RCV000340321]|not provided [RCV004712253] Chr22:20890528 [GRCh38]
Chr22:21244816 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_004782.4(SNAP29):c.*519_*522del deletion CEDNIK syndrome [RCV000353804]|not provided [RCV004694660] Chr22:20888354..20888357 [GRCh38]
Chr22:21242642..21242645 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1 copy number loss VATER association [RCV000520380] Chr22:18915347..21463730 [GRCh37]
Chr22:22q11.21		 likely pathogenic
NC_000022.11:g.(?_21213348)_(21242174_?)del deletion CEDNIK syndrome [RCV000585856] Chr22:21213348..21242174 [GRCh38]
Chr22:22q11.21		 likely pathogenic
NM_004782.4(SNAP29):c.*505_*522del deletion CEDNIK syndrome [RCV000291552]|not provided [RCV004694657] Chr22:20888340..20888357 [GRCh38]
Chr22:21242628..21242645 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*477AC[21] microsatellite CEDNIK syndrome [RCV000345437] Chr22:20888312..20888313 [GRCh38]
Chr22:21242600..21242601 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*477AC[20] microsatellite CEDNIK syndrome [RCV000381344] Chr22:20888312..20888315 [GRCh38]
Chr22:21242600..21242603 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*240C>T single nucleotide variant CEDNIK syndrome [RCV000315886] Chr22:20888076 [GRCh38]
Chr22:21242364 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.-40T>G single nucleotide variant CEDNIK syndrome [RCV000317418] Chr22:20859071 [GRCh38]
Chr22:21213359 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2937_*2944del deletion CEDNIK syndrome [RCV000333048]|not provided [RCV004694662] Chr22:20890759..20890766 [GRCh38]
Chr22:21245047..21245054 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2912G>A single nucleotide variant CEDNIK syndrome [RCV000367808] Chr22:20890748 [GRCh38]
Chr22:21245036 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.-70_-69del deletion CEDNIK syndrome [RCV000385693] Chr22:20859040..20859041 [GRCh38]
Chr22:21213328..21213329 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2304C>T single nucleotide variant CEDNIK syndrome [RCV000387633] Chr22:20890140 [GRCh38]
Chr22:21244428 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2121dup duplication CEDNIK syndrome [RCV000307962] Chr22:20889947..20889948 [GRCh38]
Chr22:21244235..21244236 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*472_*483delinsT indel CEDNIK syndrome [RCV000321150] Chr22:20888308..20888319 [GRCh38]
Chr22:21242596..21242607 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*513_*522del deletion CEDNIK syndrome [RCV000407016] Chr22:20888348..20888357 [GRCh38]
Chr22:21242636..21242645 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.502A>G (p.Arg168Gly) single nucleotide variant CEDNIK syndrome [RCV000308681] Chr22:20881116 [GRCh38]
Chr22:21235404 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*3171G>A single nucleotide variant CEDNIK syndrome [RCV000323821] Chr22:20891007 [GRCh38]
Chr22:21245295 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*3035C>T single nucleotide variant CEDNIK syndrome [RCV000374791] Chr22:20890871 [GRCh38]
Chr22:21245159 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2168A>C single nucleotide variant CEDNIK syndrome [RCV000327756] Chr22:20890004 [GRCh38]
Chr22:21244292 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*816C>T single nucleotide variant CEDNIK syndrome [RCV000378417] Chr22:20888652 [GRCh38]
Chr22:21242940 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.91C>T (p.Leu31Phe) single nucleotide variant not provided [RCV001572046] Chr22:20859201 [GRCh38]
Chr22:21213489 [GRCh37]
Chr22:22q11.21		 uncertain significance
Single allele deletion 22q11.2 deletion syndrome [RCV003221321] Chr22:18274663..21110254 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.10:g.21235389A>AA single nucleotide variant not provided [RCV000727658] Chr22:21235389 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18640729-21465659)x3 copy number gain See cases [RCV000449438] Chr22:18640729..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21800471)x1 copy number loss See cases [RCV000449444] Chr22:18916842..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21065882-21440455)x3 copy number gain See cases [RCV000449379] Chr22:21065882..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21044196-21440455)x4 copy number gain See cases [RCV000449176] Chr22:21044196..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21798907)x1 copy number loss See cases [RCV000449418] Chr22:19024656..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465661)x1 copy number loss See cases [RCV000446325] Chr22:18916842..21465661 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:18970561-21465659)x3 copy number gain See cases [RCV000446476] Chr22:18970561..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21059669-21461606)x1 copy number loss See cases [RCV000446362] Chr22:21059669..21461606 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3 copy number gain See cases [RCV000447318] Chr22:18644790..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465659)x1 copy number loss See cases [RCV000446495] Chr22:18917047..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21440455)x3 copy number gain See cases [RCV000446626] Chr22:18894339..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465662)x1 copy number loss See cases [RCV000446673] Chr22:18648866..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 copy number loss See cases [RCV000447211] Chr22:18644790..21915509 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1 copy number loss See cases [RCV000446125] Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21465659)x3 copy number gain See cases [RCV000446638] Chr22:19024656..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:19023801-21440455)x1 copy number loss See cases [RCV000446681] Chr22:19023801..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18890042-21440455)x1 copy number loss See cases [RCV000446730] Chr22:18890042..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21800797)x1 copy number loss See cases [RCV000446918] Chr22:18916842..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19024792-21465659)x3 copy number gain See cases [RCV000446402] Chr22:19024792..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18937381-21465659)x3 copy number gain See cases [RCV000447496] Chr22:18937381..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18636748-21465659)x3 copy number gain See cases [RCV000447019] Chr22:18636748..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x1 copy number loss See cases [RCV000447026] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20725308-21465659)x3 copy number gain See cases [RCV000446738] Chr22:20725308..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18644790-21800471)x1 copy number loss See cases [RCV000446545] Chr22:18644790..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21798907)x1 copy number loss See cases [RCV000447063] Chr22:18648866..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x1 copy number loss See cases [RCV000446173] Chr22:18650664..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18645353-21465662)x1 copy number loss See cases [RCV000447176] Chr22:18645353..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21798907)x1 copy number loss See cases [RCV000447508] Chr22:18644790..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss See cases [RCV000446664] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x1 copy number loss See cases [RCV000446944] Chr22:18648866..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x3 copy number gain See cases [RCV000445951] Chr22:18648866..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21915509)x1 copy number loss See cases [RCV000445962] Chr22:18916842..21915509 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 copy number loss See cases [RCV000445855] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21025654-22336268)x3 copy number gain See cases [RCV000445877] Chr22:21025654..22336268 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21(chr22:20717654-21465659)x3 copy number gain See cases [RCV000445676] Chr22:20717654..21465659 [GRCh37]
Chr22:22q11.21		 conflicting data from submitters
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x3 copy number gain See cases [RCV000448486] Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21060189-21465659)x3 copy number gain See cases [RCV000447895] Chr22:21060189..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18631979-21465659)x3 copy number gain See cases [RCV000448925] Chr22:18631979..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 copy number loss See cases [RCV000448538] Chr22:18648866..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x3 copy number gain See cases [RCV000448166] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21465662)x1 copy number loss See cases [RCV000447793] Chr22:18916827..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x1 copy number loss See cases [RCV000448762] Chr22:18644790..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21440455)x1 copy number loss See cases [RCV000448077] Chr22:18894339..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
NC_000022.10:g.(?_20721034)_(21460598_?)del deletion Schizophrenia [RCV000416918] Chr22:20721034..21460598 [GRCh37]
Chr22:19051034..19790598 [NCBI36]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x3 copy number gain See cases [RCV000448770] Chr22:18650664..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 copy number gain See cases [RCV000448224] Chr22:16888899..23723805 [GRCh37]
Chr22:22q11.1-11.23		 pathogenic
NM_004782.4(SNAP29):c.622G>T (p.Glu208Ter) single nucleotide variant CEDNIK syndrome [RCV002251743]|not provided [RCV000478546] Chr22:20887681 [GRCh38]
Chr22:21241969 [GRCh37]
Chr22:22q11.21		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:19024657-21465662)x1 copy number loss See cases [RCV000510463] Chr22:19024657..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465659)x1 copy number loss See cases [RCV000510221] Chr22:18917047..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465662)x1 copy number loss See cases [RCV000510658] Chr22:18917047..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-21465662)x1 copy number loss See cases [RCV000510715] Chr22:20716876..21465662 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.629C>T (p.Ser210Phe) single nucleotide variant SNAP29-related disorder [RCV003960183]|not provided [RCV001507497]|not specified [RCV000500650] Chr22:20887688 [GRCh38]
Chr22:21241976 [GRCh37]
Chr22:22q11.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss See cases [RCV000511898] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21059669-21465662)x1 copy number loss See cases [RCV000511667] Chr22:21059669..21465662 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20728956-21465659)x3 copy number gain See cases [RCV000510753] Chr22:20728956..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20725308-21465659)x3 copy number gain See cases [RCV000510990] Chr22:20725308..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:21081260-21431174) copy number gain Abnormality of the eye [RCV000626529] Chr22:21081260..21431174 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18892575-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767596] Chr22:18892575..21460220 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.632T>C (p.Met211Thr) single nucleotide variant Inborn genetic diseases [RCV003263136] Chr22:20887691 [GRCh38]
Chr22:21241979 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18894835-21505417) copy number loss Ear malformation [RCV000626528] Chr22:18894835..21505417 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21804716)x1 copy number loss See cases [RCV000512402] Chr22:18916842..21804716 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3 copy number gain See cases [RCV000512387] Chr22:18644790..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:18970560-21465662)x3 copy number gain not provided [RCV000684508] Chr22:18970560..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18935463-21465659)x1 copy number loss not provided [RCV000684509] Chr22:18935463..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x1 copy number loss not provided [RCV000684510] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21465659)x3 copy number gain not provided [RCV000684511] Chr22:18916827..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18645353-21465659)x3 copy number gain not provided [RCV000684512] Chr22:18645353..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1 copy number loss not provided [RCV000684513] Chr22:18644542..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18626108-21800797)x1 copy number loss not provided [RCV000684517] Chr22:18626108..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 copy number loss not provided [RCV000684519] Chr22:18644790..21915509 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 copy number loss not provided [RCV000684514] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1 copy number loss not provided [RCV000684515] Chr22:20716876..23819697 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 copy number loss not provided [RCV000684516] Chr22:18648866..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21075675-21465662)x1 copy number loss not provided [RCV000684473] Chr22:21075675..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:21049799-21465662)x1 copy number loss not provided [RCV000684476] Chr22:21049799..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:20732808-21464764)x3 copy number gain not provided [RCV000684484] Chr22:20732808..21464764 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20716876-21465662)x1 copy number loss not provided [RCV000684485] Chr22:20716876..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-21798907)x1 copy number loss not provided [RCV000684489] Chr22:20716876..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20311903-21465659)x1 copy number loss not provided [RCV000684490] Chr22:20311903..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20311903-21800797)x1 copy number loss not provided [RCV000684498] Chr22:20311903..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NC_000022.11:g.(?_18159879)_(21362822_?)del deletion Schizophrenia [RCV000754240] Chr22:18159879..21362822 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18159879)_(21387988_?)del deletion Schizophrenia [RCV000754241] Chr22:18159879..21387988 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18163926)_(21277123_?)del deletion Schizophrenia [RCV000754242] Chr22:18163926..21277123 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18802709)_(21343709_?)del deletion Schizophrenia [RCV000754243] Chr22:18802709..21343709 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18832909)_(21123588_?)del deletion Schizophrenia [RCV000754244] Chr22:18832909..21123588 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18880919)_(21123588_?)del deletion Schizophrenia [RCV000754247] Chr22:18880919..21123588 [GRCh38]
Chr22:22q11.21		 pathogenic
Single allele duplication Autism [RCV000754249] Chr22:18904453..21277123 [GRCh38]
Chr22:22q11.21		 pathogenic
Single allele duplication Autism [RCV000754250] Chr22:19295635..21510330 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_20346735)_(21149007_?)del deletion Schizophrenia [RCV000754251] Chr22:20346735..21149007 [GRCh38]
Chr22:22q11.21		 likely pathogenic
NC_000022.11:g.(?_20346735)_(21277123_?)del deletion Schizophrenia [RCV000754252] Chr22:20346735..21277123 [GRCh38]
Chr22:22q11.21		 likely pathogenic
NC_000022.11:g.(?_20358985)_(21123588_?)del deletion Schizophrenia [RCV000754253] Chr22:20358985..21123588 [GRCh38]
Chr22:22q11.21		 likely pathogenic
NC_000022.11:g.(?_18846939)_(21221413_?)del deletion Schizophrenia [RCV000754245] Chr22:18846939..21221413 [GRCh38]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18675473-21465050)x3 copy number gain not provided [RCV000741726] Chr22:18675473..21465050 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18728118-21811991)x1 copy number loss not provided [RCV000741727] Chr22:18728118..21811991 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21463730)x3 copy number gain not provided [RCV000741728] Chr22:18844632..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21608479)x1 copy number loss not provided [RCV000741729] Chr22:18844632..21608479 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18861748-21463730)x1 copy number loss not provided [RCV000741730] Chr22:18861748..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18872508-21465050)x1 copy number loss not provided [RCV000741731] Chr22:18872508..21465050 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18875869-21470273)x1 copy number loss not provided [RCV000741733] Chr22:18875869..21470273 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18875956-21466715)x1 copy number loss not provided [RCV000741734] Chr22:18875956..21466715 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18878409-21465050)x1 copy number loss not provided [RCV000741735] Chr22:18878409..21465050 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18878409-21467387)x3 copy number gain not provided [RCV000741736] Chr22:18878409..21467387 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18878409-21907671)x1 copy number loss not provided [RCV000741737] Chr22:18878409..21907671 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18884401-21467387)x3 copy number gain not provided [RCV000741738] Chr22:18884401..21467387 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss not provided [RCV000741739] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21465050)x1 copy number loss not provided [RCV000741740] Chr22:18886915..21465050 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21467387)x1 copy number loss not provided [RCV000741741] Chr22:18886915..21467387 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18889490-21466715)x1 copy number loss not provided [RCV000741743] Chr22:18889490..21466715 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18891398-21463730)x3 copy number gain not provided [RCV000741744] Chr22:18891398..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19016663-21463730)x1 copy number loss not provided [RCV000741747] Chr22:19016663..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20711589-21465050)x3 copy number gain not provided [RCV000741762] Chr22:20711589..21465050 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20733495-21463730)x1 copy number loss not provided [RCV000741764] Chr22:20733495..21463730 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:20733495-21467387)x3 copy number gain not provided [RCV000741765] Chr22:20733495..21467387 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20796175-21608479)x1 copy number loss not provided [RCV000741766] Chr22:20796175..21608479 [GRCh37]
Chr22:22q11.21		 benign
GRCh37/hg19 22q11.21(chr22:21061667-21465050)x1 copy number loss not provided [RCV000741773] Chr22:21061667..21465050 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21062168-21463730)x1 copy number loss not provided [RCV000741774] Chr22:21062168..21463730 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:21091815-21462353)x3 copy number gain not provided [RCV000741775] Chr22:21091815..21462353 [GRCh37]
Chr22:22q11.21		 benign
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_004782.4(SNAP29):c.250C>T (p.Gln84Ter) single nucleotide variant not provided [RCV000760891] Chr22:20870349 [GRCh38]
Chr22:21224637 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648855-21927646)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788063] Chr22:18648855..21927646 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.*242G>A single nucleotide variant CEDNIK syndrome [RCV001147971] Chr22:20888078 [GRCh38]
Chr22:21242366 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1 copy number loss Velocardiofacial syndrome [RCV000788056] Chr22:18912231..21465672 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1 copy number loss Velocardiofacial syndrome [RCV000788058] Chr22:18922151..21449911 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787412] Chr22:18890264..21540347 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.*61C>G single nucleotide variant CEDNIK syndrome [RCV001147090] Chr22:20887897 [GRCh38]
Chr22:21242185 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*1437T>C single nucleotide variant CEDNIK syndrome [RCV001147198] Chr22:20889273 [GRCh38]
Chr22:21243561 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*3284G>T single nucleotide variant CEDNIK syndrome [RCV001145749] Chr22:20891120 [GRCh38]
Chr22:21245408 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2868A>G single nucleotide variant CEDNIK syndrome [RCV001148183] Chr22:20890704 [GRCh38]
Chr22:21244992 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.36C>T (p.Asp12=) single nucleotide variant not provided [RCV000883541] Chr22:20859146 [GRCh38]
Chr22:21213434 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.620-10C>T single nucleotide variant not provided [RCV000880487] Chr22:20887669 [GRCh38]
Chr22:21241957 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:18611223-21408430) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767591] Chr22:18611223..21408430 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18912514-21922035) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767627] Chr22:18912514..21922035 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18900755-21800277) copy number loss DiGeorge syndrome [RCV000767747] Chr22:18900755..21800277 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1 copy number loss Velocardiofacial syndrome [RCV000788057] Chr22:18631364..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1 copy number loss Velocardiofacial syndrome [RCV000788059] Chr22:18636749..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18889490-21917190)x1 copy number loss See cases [RCV000790601] Chr22:18889490..21917190 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18650803-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767593] Chr22:18650803..21460220 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18650745-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767592] Chr22:18650745..21460220 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18912403-21431174) copy number loss DiGeorge syndrome [RCV000767629] Chr22:18912403..21431174 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18892575-21460220) copy number loss DiGeorge syndrome [RCV000767687] Chr22:18892575..21460220 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18912514-21431174) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767689] Chr22:18912514..21431174 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20921342-21459713)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788068] Chr22:20921342..21459713 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:20992308-21464764)x3 copy number gain 22q11.2 central duplication syndrome [RCV000788070] Chr22:20992308..21464764 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.620-7C>G single nucleotide variant not provided [RCV000920959] Chr22:20887672 [GRCh38]
Chr22:21241960 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:18609712-21408430) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767590] Chr22:18609712..21408430 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18901004-21408430) copy number loss DiGeorge syndrome [RCV000767594] Chr22:18901004..21408430 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18650803-21386010) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767595] Chr22:18650803..21386010 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.113C>T (p.Pro38Leu) single nucleotide variant not provided [RCV000974156] Chr22:20859223 [GRCh38]
Chr22:21213511 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:18923898-21431174) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767630] Chr22:18923898..21431174 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18912870-21431174) copy number loss DiGeorge syndrome [RCV000767633] Chr22:18912870..21431174 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18892575-21460220) copy number loss DiGeorge syndrome [RCV000767692] Chr22:18892575..21460220 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.206A>G (p.Glu69Gly) single nucleotide variant Inborn genetic diseases [RCV003167161]|not provided [RCV001944988] Chr22:20859316 [GRCh38]
Chr22:21213604 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1 copy number loss Velocardiofacial syndrome [RCV000856641] Chr22:18661724..21505417 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18937380-21459713)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788062] Chr22:18937380..21459713 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21033397-21465659)x3 copy number gain not provided [RCV000848285] Chr22:21033397..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:19819477-21464764)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788064] Chr22:19819477..21464764 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20717654-21465662)x3 copy number gain not provided [RCV000848729] Chr22:20717654..21465662 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21058887-21465659)x3 copy number gain not provided [RCV000849879] Chr22:21058887..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
Single allele duplication Neurodevelopmental disorder [RCV000787416] Chr22:18890264..21464056 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:20729388-21465662)x1 copy number loss not provided [RCV000849720] Chr22:20729388..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 copy number gain not provided [RCV001007169] Chr22:20732808..25193541 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21(chr22:21033397-21465662)x3 copy number gain not provided [RCV001007172] Chr22:21033397..21465662 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*507A>C single nucleotide variant CEDNIK syndrome [RCV001147974] Chr22:20888343 [GRCh38]
Chr22:21242631 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*6G>A single nucleotide variant CEDNIK syndrome [RCV001147088]|not specified [RCV001819851] Chr22:20887842 [GRCh38]
Chr22:21242130 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*26T>C single nucleotide variant CEDNIK syndrome [RCV001147089] Chr22:20887862 [GRCh38]
Chr22:21242150 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:21062566-21463730)x1 copy number loss See cases [RCV000790588] Chr22:21062566..21463730 [GRCh37]
Chr22:22q11.21		 likely pathogenic
NM_004782.4(SNAP29):c.*1438G>A single nucleotide variant CEDNIK syndrome [RCV001147199] Chr22:20889274 [GRCh38]
Chr22:21243562 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2738G>A single nucleotide variant CEDNIK syndrome [RCV001147281] Chr22:20890574 [GRCh38]
Chr22:21244862 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2749A>G single nucleotide variant CEDNIK syndrome [RCV001147282] Chr22:20890585 [GRCh38]
Chr22:21244873 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*3014C>T single nucleotide variant CEDNIK syndrome [RCV001149971]|not provided [RCV004694931] Chr22:20890850 [GRCh38]
Chr22:21245138 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2796G>A single nucleotide variant CEDNIK syndrome [RCV001148182] Chr22:20890632 [GRCh38]
Chr22:21244920 [GRCh37]
Chr22:22q11.21		 benign
NM_004782.4(SNAP29):c.-93G>T single nucleotide variant CEDNIK syndrome [RCV001146982] Chr22:20859018 [GRCh38]
Chr22:21213306 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.-58C>A single nucleotide variant CEDNIK syndrome [RCV001146984] Chr22:20859053 [GRCh38]
Chr22:21213341 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21059669-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788069] Chr22:21059669..21800471 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:20729388-21454872)x3 copy number gain 22q11.2 central duplication syndrome [RCV000788071] Chr22:20729388..21454872 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1 copy number loss Velocardiofacial syndrome [RCV000788060] Chr22:18919477..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648855-21461017)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788061] Chr22:18648855..21461017 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21033586-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788065] Chr22:21033586..21800471 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788066] Chr22:20716876..21800471 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788067] Chr22:20716876..21800471 [GRCh37]
Chr22:22q11.21		 likely pathogenic
NM_004782.4(SNAP29):c.*1675C>T single nucleotide variant CEDNIK syndrome [RCV001148083] Chr22:20889511 [GRCh38]
Chr22:21243799 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2039T>G single nucleotide variant CEDNIK syndrome [RCV001148085] Chr22:20889875 [GRCh38]
Chr22:21244163 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.199A>G (p.Met67Val) single nucleotide variant CEDNIK syndrome [RCV001149418] Chr22:20859309 [GRCh38]
Chr22:21213597 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*590T>C single nucleotide variant CEDNIK syndrome [RCV001149526] Chr22:20888426 [GRCh38]
Chr22:21242714 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.-60G>A single nucleotide variant CEDNIK syndrome [RCV001146983] Chr22:20859051 [GRCh38]
Chr22:21213339 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2678T>C single nucleotide variant CEDNIK syndrome [RCV001147279] Chr22:20890514 [GRCh38]
Chr22:21244802 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20716876-21465659)x1 copy number loss not provided [RCV000847762] Chr22:20716876..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20732808-21465659)x3 copy number gain not provided [RCV000846336] Chr22:20732808..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21069073-21463730)x1 copy number loss See cases [RCV001194549] Chr22:21069073..21463730 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:20728956-21465662)x3 copy number gain not provided [RCV000845862] Chr22:20728956..21465662 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.518C>G (p.Thr173Arg) single nucleotide variant CEDNIK syndrome [RCV001145128]|not provided [RCV002557108] Chr22:20881132 [GRCh38]
Chr22:21235420 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.620-4G>A single nucleotide variant CEDNIK syndrome [RCV001145132]|Inborn genetic diseases [RCV002557109]|not provided [RCV002070752] Chr22:20887675 [GRCh38]
Chr22:21241963 [GRCh37]
Chr22:22q11.21		 likely benign|uncertain significance
NM_004782.4(SNAP29):c.*948G>A single nucleotide variant CEDNIK syndrome [RCV001145228] Chr22:20888784 [GRCh38]
Chr22:21243072 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2412C>T single nucleotide variant CEDNIK syndrome [RCV001145333] Chr22:20890248 [GRCh38]
Chr22:21244536 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2484G>C single nucleotide variant CEDNIK syndrome [RCV001145334] Chr22:20890320 [GRCh38]
Chr22:21244608 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.214A>G (p.Lys72Glu) single nucleotide variant not provided [RCV000997872] Chr22:20859324 [GRCh38]
Chr22:21213612 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1 copy number loss not provided [RCV003312569] Chr22:18893888..21481925 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.697A>G (p.Ile233Val) single nucleotide variant CEDNIK syndrome [RCV001147087] Chr22:20887756 [GRCh38]
Chr22:21242044 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*210A>C single nucleotide variant CEDNIK syndrome [RCV001147091] Chr22:20888046 [GRCh38]
Chr22:21242334 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2944A>G single nucleotide variant CEDNIK syndrome [RCV001149970] Chr22:20890780 [GRCh38]
Chr22:21245068 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*1874A>C single nucleotide variant CEDNIK syndrome [RCV001148084] Chr22:20889710 [GRCh38]
Chr22:21243998 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*3285G>T single nucleotide variant CEDNIK syndrome [RCV001145750] Chr22:20891121 [GRCh38]
Chr22:21245409 [GRCh37]
Chr22:22q11.21		 likely benign
NC_000022.11:g.18948676_21110520dup duplication Chromosome 22q11.2 microduplication syndrome [RCV003313910] Chr22:18948676..21110520 [GRCh38]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.520+214C>G single nucleotide variant not provided [RCV001547251] Chr22:20881348 [GRCh38]
Chr22:21235636 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.238-291G>A single nucleotide variant not provided [RCV001688254] Chr22:20870046 [GRCh38]
Chr22:21224334 [GRCh37]
Chr22:22q11.21		 benign
NC_000022.11:g.20858944dup duplication not provided [RCV001557246] Chr22:20858936..20858937 [GRCh38]
Chr22:21213224..21213225 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.375C>T (p.Ser125=) single nucleotide variant not provided [RCV000900484] Chr22:20870474 [GRCh38]
Chr22:21224762 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.72T>A (p.Pro24=) single nucleotide variant CEDNIK syndrome [RCV001147877]|SNAP29-related disorder [RCV003923138]|not provided [RCV000910417] Chr22:20859182 [GRCh38]
Chr22:21213470 [GRCh37]
Chr22:22q11.21		 benign
NM_004782.4(SNAP29):c.*2277C>T single nucleotide variant CEDNIK syndrome [RCV001145330]|not provided [RCV003438678] Chr22:20890113 [GRCh38]
Chr22:21244401 [GRCh37]
Chr22:22q11.21		 benign|likely benign
GRCh37/hg19 22q11.21(chr22:20728956-21465662)x3 copy number gain Oppositional defiant disorder [RCV001030055] Chr22:20728956..21465662 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.238-12C>T single nucleotide variant CEDNIK syndrome [RCV001149420]|not provided [RCV003769715] Chr22:20870325 [GRCh38]
Chr22:21224613 [GRCh37]
Chr22:22q11.21		 likely benign|uncertain significance
NM_004782.4(SNAP29):c.*3156G>A single nucleotide variant CEDNIK syndrome [RCV001143850] Chr22:20890992 [GRCh38]
Chr22:21245280 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21092648-21465662)x1 copy number loss not provided [RCV002472590] Chr22:21092648..21465662 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.21(chr22:18889571-21464697)x1 copy number loss not provided [RCV001537922] Chr22:18889571..21464697 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.-54G>T single nucleotide variant not provided [RCV001571957] Chr22:20859057 [GRCh38]
Chr22:21213345 [GRCh37]
Chr22:22q11.21		 likely benign
Single allele deletion DiGeorge syndrome [RCV001003853] Chr22:18475385..23764120 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
Single allele deletion Inherited Immunodeficiency Diseases [RCV001027643] Chr22:18789965..21591197 [GRCh37]
Chr22:22q11.21		 likely pathogenic
NM_004782.4(SNAP29):c.*1174C>T single nucleotide variant CEDNIK syndrome [RCV001145230] Chr22:20889010 [GRCh38]
Chr22:21243298 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss See cases [RCV001194516] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss See cases [RCV001194533] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21062168-21463730)x1 copy number loss See cases [RCV001194551] Chr22:21062168..21463730 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21797812)x1 copy number loss See cases [RCV001194550] Chr22:18844632..21797812 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18841374-21465101)x3 copy number gain not provided [RCV001537919] Chr22:18841374..21465101 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18889693-21465485)x1 copy number loss not provided [RCV001537920] Chr22:18889693..21465485 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.237+10G>T single nucleotide variant CEDNIK syndrome [RCV001149419] Chr22:20859357 [GRCh38]
Chr22:21213645 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2059C>T single nucleotide variant CEDNIK syndrome [RCV001149641] Chr22:20889895 [GRCh38]
Chr22:21244183 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18912403-21431174) copy number loss DiGeorge syndrome [RCV001195119] Chr22:18912403..21431174 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.*2171T>C single nucleotide variant CEDNIK syndrome [RCV001149642] Chr22:20890007 [GRCh38]
Chr22:21244295 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*624C>T single nucleotide variant CEDNIK syndrome [RCV001149527] Chr22:20888460 [GRCh38]
Chr22:21242748 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*755A>G single nucleotide variant CEDNIK syndrome [RCV001149528]|not provided [RCV004712958] Chr22:20888591 [GRCh38]
Chr22:21242879 [GRCh37]
Chr22:22q11.21		 benign
NM_004782.4(SNAP29):c.607G>A (p.Asp203Asn) single nucleotide variant CEDNIK syndrome [RCV001145130]|not provided [RCV001760102] Chr22:20883557 [GRCh38]
Chr22:21237845 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*822C>T single nucleotide variant CEDNIK syndrome [RCV001145227] Chr22:20888658 [GRCh38]
Chr22:21242946 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2364A>G single nucleotide variant CEDNIK syndrome [RCV001145332] Chr22:20890200 [GRCh38]
Chr22:21244488 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*3283T>G single nucleotide variant CEDNIK syndrome [RCV001145748] Chr22:20891119 [GRCh38]
Chr22:21245407 [GRCh37]
Chr22:22q11.21		 uncertain significance
NC_000022.10:g.(?_21067569)_(21414817_?)del deletion not provided [RCV001031466] Chr22:21067569..21414817 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.*3233A>G single nucleotide variant CEDNIK syndrome [RCV001143851] Chr22:20891069 [GRCh38]
Chr22:21245357 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*267C>T single nucleotide variant CEDNIK syndrome [RCV001147972] Chr22:20888103 [GRCh38]
Chr22:21242391 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*496C>G single nucleotide variant CEDNIK syndrome [RCV001147973] Chr22:20888332 [GRCh38]
Chr22:21242620 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.520+14T>C single nucleotide variant CEDNIK syndrome [RCV001145129] Chr22:20881148 [GRCh38]
Chr22:21235436 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.620-6C>G single nucleotide variant CEDNIK syndrome [RCV001145131]|not provided [RCV003769698] Chr22:20887673 [GRCh38]
Chr22:21241961 [GRCh37]
Chr22:22q11.21		 likely benign|uncertain significance
NM_004782.4(SNAP29):c.*991C>A single nucleotide variant CEDNIK syndrome [RCV001145229] Chr22:20888827 [GRCh38]
Chr22:21243115 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2280G>A single nucleotide variant CEDNIK syndrome [RCV001145331] Chr22:20890116 [GRCh38]
Chr22:21244404 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3 copy number gain not provided [RCV001007162] Chr22:16888899..22290476 [GRCh37]
Chr22:22q11.1-11.22		 pathogenic
NM_004782.4(SNAP29):c.*3268T>C single nucleotide variant CEDNIK syndrome [RCV001145747] Chr22:20891104 [GRCh38]
Chr22:21245392 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*2892C>T single nucleotide variant CEDNIK syndrome [RCV001149969]|not provided [RCV004712959] Chr22:20890728 [GRCh38]
Chr22:21245016 [GRCh37]
Chr22:22q11.21		 benign
GRCh37/hg19 22q11.21(chr22:21022257-21302080)x3 copy number gain not provided [RCV001007170] Chr22:21022257..21302080 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss not provided [RCV001007171] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
NM_004782.4(SNAP29):c.*2712G>A single nucleotide variant CEDNIK syndrome [RCV001147280] Chr22:20890548 [GRCh38]
Chr22:21244836 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.*3246A>G single nucleotide variant CEDNIK syndrome [RCV001143852] Chr22:20891082 [GRCh38]
Chr22:21245370 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.365_368del (p.Tyr122fs) deletion not provided [RCV001092752] Chr22:20870462..20870465 [GRCh38]
Chr22:21224750..21224753 [GRCh37]
Chr22:22q11.21		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:20754407-21457610)x1 copy number loss See cases [RCV001263048] Chr22:20754407..21457610 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18628147-21722313)x3 copy number gain See cases [RCV001263041] Chr22:18628147..21722313 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20818353-21465659)x3 copy number gain not provided [RCV001259983] Chr22:20818353..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.21(chr22:18765102-21661435)x1 copy number loss See cases [RCV001263047] Chr22:18765102..21661435 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18661699-21457610)x1 copy number loss See cases [RCV001263054] Chr22:18661699..21457610 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21465662)x3 copy number gain not provided [RCV001259978] Chr22:19024656..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:19035089-22672555)x3 copy number gain not provided [RCV001259984] Chr22:19035089..22672555 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
NM_004782.4(SNAP29):c.435-3A>G single nucleotide variant CEDNIK syndrome [RCV001332511] Chr22:20881046 [GRCh38]
Chr22:21235334 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21081284-21457610)x1 copy number loss See cases [RCV001263046] Chr22:21081284..21457610 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_004782.4(SNAP29):c.238-2A>G single nucleotide variant not provided [RCV001268503] Chr22:20870335 [GRCh38]
Chr22:21224623 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x4 copy number gain not provided [RCV001259979] Chr22:18648866..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion Intellectual disability [RCV001293370] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21075575-21454721) copy number loss Hydronephrosis [RCV001291976] Chr22:21075575..21454721 [GRCh37]
Chr22:22q11.21		 likely pathogenic
NC_000022.10:g.(?_18900688)_(21351637_?)del deletion DiGeorge syndrome [RCV001383366]|not provided [RCV001871994] Chr22:18900688..21351637 [GRCh37]
Chr22:22q11.21		 pathogenic|no classifications from unflagged records
GRCh37/hg19 22q11.1-11.21(chr22:16800000-21500000)x4 copy number gain not provided [RCV001270641] Chr22:16800000..21500000 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18889950-21466053)x1 copy number loss not provided [RCV001270642] Chr22:18889950..21466053 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion DiGeorge syndrome [RCV001391675] Chr22:18893882..21563420 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3 copy number gain Epilepsy [RCV001293650] Chr22:18886915..21461017 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18889977-21463189)x3 copy number gain not provided [RCV001537921] Chr22:18889977..21463189 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion DiGeorge syndrome [RCV001391672] Chr22:18893882..21571027 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20730996-21465342)x1 copy number loss not provided [RCV001537923] Chr22:20730996..21465342 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.238-44G>A single nucleotide variant not provided [RCV001686197] Chr22:20870293 [GRCh38]
Chr22:21224581 [GRCh37]
Chr22:22q11.21		 benign
NM_004782.4(SNAP29):c.620-113del deletion not provided [RCV001678674] Chr22:20887566 [GRCh38]
Chr22:21241854 [GRCh37]
Chr22:22q11.21		 benign
NM_004782.4(SNAP29):c.620-113T>C single nucleotide variant not provided [RCV001687526] Chr22:20887566 [GRCh38]
Chr22:21241854 [GRCh37]
Chr22:22q11.21		 benign
GRCh37/hg19 22q11.21(chr22:18889969-21462658)x1 copy number loss See cases [RCV001526484] Chr22:18889969..21462658 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20737912-21465659)x3 copy number gain See cases [RCV001526487] Chr22:20737912..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18718028-21326012)x1 copy number loss See cases [RCV002246178] Chr22:18718028..21326012 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21059670-21217876)x3 copy number gain not provided [RCV001833080] Chr22:21059670..21217876 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.695A>G (p.Asp232Gly) single nucleotide variant not provided [RCV001763206] Chr22:20887754 [GRCh38]
Chr22:21242042 [GRCh37]
Chr22:22q11.21		 uncertain significance
Single allele deletion Velocardiofacial syndrome [RCV002247726] Chr22:18948677..21110520 [GRCh38]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.434+5G>A single nucleotide variant not provided [RCV001774532] Chr22:20870538 [GRCh38]
Chr22:21224826 [GRCh37]
Chr22:22q11.21		 uncertain significance
Single allele deletion Chromosome 22q11.2 deletion syndrome, distal [RCV003232577] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21		 pathogenic
Single allele duplication Chromosome 22q11.2 microduplication syndrome [RCV003232578] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.122G>A (p.Arg41Lys) single nucleotide variant Inborn genetic diseases [RCV002544145]|not provided [RCV001771554] Chr22:20859232 [GRCh38]
Chr22:21213520 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.620-210AC[9] microsatellite not provided [RCV001732981] Chr22:20887468..20887469 [GRCh38]
Chr22:21241756..21241757 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.623A>T (p.Glu208Val) single nucleotide variant SNAP29-related disorder [RCV003931314]|not provided [RCV001751958] Chr22:20887682 [GRCh38]
Chr22:21241970 [GRCh37]
Chr22:22q11.21		 likely benign|uncertain significance
GRCh37/hg19 22q11.21(chr22:18873001-21469900) copy number gain Cerebral palsy [RCV001796564] Chr22:18873001..21469900 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1 copy number loss Chromosome 22q11.2 deletion syndrome, distal [RCV001801214] Chr22:18660135..21737597 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.280A>T (p.Met94Leu) single nucleotide variant not provided [RCV001765200] Chr22:20870379 [GRCh38]
Chr22:21224667 [GRCh37]
Chr22:22q11.21		 uncertain significance
NC_000022.10:g.18861209_21630630del deletion Megacolon [RCV001290034] Chr22:18861209..21630630 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18884714-21483289)x1 copy number loss See cases [RCV001780077] Chr22:18884714..21483289 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_058004.4(PI4KA):c.24AGGCGG[3] (p.Gly17_Gly18del) microsatellite not provided [RCV000882073]|not specified [RCV001817076] Chr22:20858679..20858684 [GRCh38]
Chr22:21212967..21212972 [GRCh37]
Chr22:22q11.21		 benign
GRCh37/hg19 22q11.21(chr22:18917047-21465659) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280735] Chr22:18917047..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907) copy number loss DiGeorge syndrome [RCV002280729] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.131A>G (p.Tyr44Cys) single nucleotide variant Inborn genetic diseases [RCV004040959]|not provided [RCV001869657]|not specified [RCV001822255] Chr22:20859241 [GRCh38]
Chr22:21213529 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_058004.4(PI4KA):c.24AGGCGG[5] (p.Gly18_Cys19insGlyGly) microsatellite not provided [RCV000968791]|not specified [RCV001819086] Chr22:20858678..20858679 [GRCh38]
Chr22:21212966..21212967 [GRCh37]
Chr22:22q11.21		 benign
NM_004782.4(SNAP29):c.118G>T (p.Asp40Tyr) single nucleotide variant CEDNIK syndrome [RCV001806375] Chr22:20859228 [GRCh38]
Chr22:21213516 [GRCh37]
Chr22:22q11.21		 likely pathogenic
NM_058004.4(PI4KA):c.42_53del (p.Gly15_Gly18del) deletion not provided [RCV000972991]|not specified [RCV001819129] Chr22:20858673..20858684 [GRCh38]
Chr22:21212961..21212972 [GRCh37]
Chr22:22q11.21		 benign|likely benign
NM_004782.4(SNAP29):c.149T>C (p.Leu50Pro) single nucleotide variant not specified [RCV001822175] Chr22:20859259 [GRCh38]
Chr22:21213547 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20717655-21465662)x3 copy number gain not provided [RCV001827891] Chr22:20717655..21465662 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.289A>G (p.Lys97Glu) single nucleotide variant not provided [RCV001896881] Chr22:20870388 [GRCh38]
Chr22:21224676 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21033398-21465659)x3 copy number gain not provided [RCV001827815] Chr22:21033398..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.80A>T (p.Asp27Val) single nucleotide variant not provided [RCV002022593] Chr22:20859190 [GRCh38]
Chr22:21213478 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21059670-21465659)x3 copy number gain not provided [RCV001834182] Chr22:21059670..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21059669-21804716)x1 copy number loss not provided [RCV001827632] Chr22:21059669..21804716 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:20728957-21915096)x1 copy number loss not provided [RCV001827860] Chr22:20728957..21915096 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.37G>T (p.Asp13Tyr) single nucleotide variant CEDNIK syndrome [RCV002052433] Chr22:20859147 [GRCh38]
Chr22:21213435 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.48G>T (p.Glu16Asp) single nucleotide variant not provided [RCV001894436] Chr22:20859158 [GRCh38]
Chr22:21213446 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18644790-21800471) copy number loss DiGeorge syndrome [RCV002280730] Chr22:18644790..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
NC_000022.10:g.(?_18900688)_(21351637_?)dup duplication DiGeorge syndrome [RCV001952526] Chr22:18900688..21351637 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.15T>G (p.Pro5=) single nucleotide variant not provided [RCV002165860] Chr22:20859125 [GRCh38]
Chr22:21213413 [GRCh37]
Chr22:22q11.21		 likely benign
NC_000022.11:g.18948676_21110520del deletion Velocardiofacial syndrome [RCV003318485] Chr22:18948676..21110520 [GRCh38]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.174C>A (p.Ala58=) single nucleotide variant not provided [RCV002173688] Chr22:20859284 [GRCh38]
Chr22:21213572 [GRCh37]
Chr22:22q11.21		 likely benign
E208* single nucleotide variant CEDNIK syndrome [RCV002248388]   pathogenic
GRCh37/hg19 22q11.21(chr22:18884514-21484289)x1 copy number loss See cases [RCV002246175] Chr22:18884514..21484289 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.247C>T (p.Arg83Cys) single nucleotide variant not provided [RCV003122023] Chr22:20870346 [GRCh38]
Chr22:21224634 [GRCh37]
Chr22:22q11.21		 uncertain significance
SNAP29, MET1? single nucleotide variant CEDNIK syndrome [RCV002248387]   pathogenic
NM_004782.4(SNAP29):c.318G>C (p.Gln106His) single nucleotide variant not provided [RCV002261643] Chr22:20870417 [GRCh38]
Chr22:21224705 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18644790-21798907) copy number loss DiGeorge syndrome [RCV002280728] Chr22:18644790..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21798907) copy number loss DiGeorge syndrome [RCV002280731] Chr22:18648866..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280738] Chr22:16888899..21915509 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644702-21467607)x1 copy number loss Syndromic anorectal malformation [RCV002286606] Chr22:18644702..21467607 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1 copy number loss not provided [RCV002276112] Chr22:18893888..21414817 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18718623-21563155)x1 copy number loss Syndromic anorectal malformation [RCV002286609] Chr22:18718623..21563155 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1 copy number loss See cases [RCV002287573] Chr22:18644542..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1 copy number loss See cases [RCV002292204] Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20732808-21465659) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280734] Chr22:20732808..21465659 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21804886) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280737] Chr22:18916827..21804886 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20732808-21800471)x1 copy number loss See cases [RCV002287834] Chr22:20732808..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20725308-21465659)x1 copy number loss See cases [RCV002292208] Chr22:20725308..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20310410-21804886)x1 copy number loss See cases [RCV002286345] Chr22:20310410..21804886 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20732808-21465659)x1 copy number loss See cases [RCV002287641] Chr22:20732808..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.354G>A (p.Gly118=) single nucleotide variant not provided [RCV003872481] Chr22:20870453 [GRCh38]
Chr22:21224741 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:18645353-21800797) copy number loss DiGeorge syndrome [RCV002280727] Chr22:18645353..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18893344-21650280) copy number loss DiGeorge syndrome [RCV002280732] Chr22:18893344..21650280 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele duplication not provided [RCV002266809] Chr22:20697728..21129998 [GRCh38]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18648867-21465659)x1 copy number loss not provided [RCV002472511] Chr22:18648867..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3 copy number gain not provided [RCV002293073] Chr22:18893888..21414817 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21465659)x1 copy number loss not provided [RCV002474586] Chr22:18916843..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20728957-21800797)x1 copy number loss not provided [RCV002472554] Chr22:20728957..21800797 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18916828-21800797)x1 copy number loss not provided [RCV002473925] Chr22:18916828..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21188487-21804597)x1 copy number loss not provided [RCV002473928] Chr22:21188487..21804597 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18648867-21798907)x3 copy number gain not provided [RCV002473937] Chr22:18648867..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20716877-21465659)x1 copy number loss not provided [RCV002474587] Chr22:20716877..21465659 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21800471)x1 copy number loss not provided [RCV002472532] Chr22:18916843..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1 copy number loss not provided [RCV002473950] Chr22:18916843..21915509 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1 copy number loss not provided [RCV002473959] Chr22:18644543..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21059670-21286988)x3 copy number gain not provided [RCV002473778] Chr22:21059670..21286988 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18916843-21798907)x3 copy number gain not provided [RCV002472508] Chr22:18916843..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20725309-21804563)x1 copy number loss not provided [RCV002472527] Chr22:20725309..21804563 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:21049800-21465662)x1 copy number loss not provided [RCV002474517] Chr22:21049800..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21062134-21465662)x3 copy number gain not provided [RCV002474713] Chr22:21062134..21465662 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:19046677-21465662)x1 copy number loss not provided [RCV002473738] Chr22:19046677..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21103226-21260113)x1 copy number loss not provided [RCV002473703] Chr22:21103226..21260113 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20725318-21800797)x1 copy number loss not provided [RCV002474535] Chr22:20725318..21800797 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:20728957-21798907)x1 copy number loss not provided [RCV002472521] Chr22:20728957..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029656-22485776)x3 copy number gain not provided [RCV002473924] Chr22:21029656..22485776 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3 copy number gain not provided [RCV002472525] Chr22:18916843..21804563 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.140A>C (p.Gln47Pro) single nucleotide variant Inborn genetic diseases [RCV002729949]|not provided [RCV003111761] Chr22:20859250 [GRCh38]
Chr22:21213538 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.560A>G (p.Asp187Gly) single nucleotide variant not provided [RCV003015065] Chr22:20883510 [GRCh38]
Chr22:21237798 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1 copy number loss not provided [RCV002512210] Chr22:18834445..21414817 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1 copy number loss not provided [RCV002512212] Chr22:18894078..21414817 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1 copy number loss not provided [RCV002512211] Chr22:18893888..21570386 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.269G>T (p.Arg90Leu) single nucleotide variant not provided [RCV002843836] Chr22:20870368 [GRCh38]
Chr22:21224656 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.435-7T>C single nucleotide variant SNAP29-related disorder [RCV003898577]|not provided [RCV002903434] Chr22:20881042 [GRCh38]
Chr22:21235330 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.715A>C (p.Thr239Pro) single nucleotide variant Inborn genetic diseases [RCV002773099] Chr22:20887774 [GRCh38]
Chr22:21242062 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.521-8A>T single nucleotide variant not provided [RCV002995419] Chr22:20883463 [GRCh38]
Chr22:21237751 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.254G>A (p.Arg85Gln) single nucleotide variant Inborn genetic diseases [RCV003274244]|not provided [RCV003097608] Chr22:20870353 [GRCh38]
Chr22:21224641 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.237+10G>A single nucleotide variant not provided [RCV002751242] Chr22:20859357 [GRCh38]
Chr22:21213645 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1 copy number loss not provided [RCV002512213] Chr22:19184000..21416024 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.620-4G>T single nucleotide variant not provided [RCV002819340] Chr22:20887675 [GRCh38]
Chr22:21241963 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.434+6T>G single nucleotide variant not provided [RCV002862351] Chr22:20870539 [GRCh38]
Chr22:21224827 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.149T>A (p.Leu50His) single nucleotide variant not provided [RCV002735188] Chr22:20859259 [GRCh38]
Chr22:21213547 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.399A>G (p.Glu133=) single nucleotide variant not provided [RCV002800215] Chr22:20870498 [GRCh38]
Chr22:21224786 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.586C>T (p.Arg196Ter) single nucleotide variant not provided [RCV002638672] Chr22:20883536 [GRCh38]
Chr22:21237824 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.692A>G (p.Asp231Gly) single nucleotide variant Inborn genetic diseases [RCV002661841] Chr22:20887751 [GRCh38]
Chr22:21242039 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.144G>A (p.Glu48=) single nucleotide variant not provided [RCV002622711] Chr22:20859254 [GRCh38]
Chr22:21213542 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.620-13C>T single nucleotide variant not provided [RCV002569806] Chr22:20887666 [GRCh38]
Chr22:21241954 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.26A>G (p.Asn9Ser) single nucleotide variant Inborn genetic diseases [RCV002800012]|not provided [RCV002770302] Chr22:20859136 [GRCh38]
Chr22:21213424 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.300A>G (p.Gln100=) single nucleotide variant not provided [RCV003039139] Chr22:20870399 [GRCh38]
Chr22:21224687 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.71C>T (p.Pro24Leu) single nucleotide variant not provided [RCV002626709] Chr22:20859181 [GRCh38]
Chr22:21213469 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.521A>G (p.Asp174Gly) single nucleotide variant not provided [RCV002918952] Chr22:20883471 [GRCh38]
Chr22:21237759 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.767G>A (p.Arg256Gln) single nucleotide variant not provided [RCV003022485] Chr22:20887826 [GRCh38]
Chr22:21242114 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21119425-21431174)x3 copy number gain not provided [RCV002509022] Chr22:21119425..21431174 [GRCh37]
Chr22:22q11.21		 not provided
NM_004782.4(SNAP29):c.445G>A (p.Ala149Thr) single nucleotide variant not provided [RCV002919259] Chr22:20881059 [GRCh38]
Chr22:21235347 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.11A>G (p.Tyr4Cys) single nucleotide variant Inborn genetic diseases [RCV002875351] Chr22:20859121 [GRCh38]
Chr22:21213409 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.146T>G (p.Val49Gly) single nucleotide variant not provided [RCV002711876] Chr22:20859256 [GRCh38]
Chr22:21213544 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.343G>A (p.Val115Met) single nucleotide variant Inborn genetic diseases [RCV002955823] Chr22:20870442 [GRCh38]
Chr22:21224730 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.660C>T (p.Ala220=) single nucleotide variant not provided [RCV002600910] Chr22:20887719 [GRCh38]
Chr22:21242007 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.434+14C>G single nucleotide variant not provided [RCV003048548] Chr22:20870547 [GRCh38]
Chr22:21224835 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.644G>A (p.Arg215His) single nucleotide variant Inborn genetic diseases [RCV002831306] Chr22:20887703 [GRCh38]
Chr22:21241991 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.320A>G (p.Lys107Arg) single nucleotide variant not provided [RCV002646946] Chr22:20870419 [GRCh38]
Chr22:21224707 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.520+10T>C single nucleotide variant not provided [RCV002577596] Chr22:20881144 [GRCh38]
Chr22:21235432 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.20G>A (p.Ser7Asn) single nucleotide variant not provided [RCV003027892] Chr22:20859130 [GRCh38]
Chr22:21213418 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.434+10T>A single nucleotide variant not provided [RCV002835366] Chr22:20870543 [GRCh38]
Chr22:21224831 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.766C>T (p.Arg256Ter) single nucleotide variant not provided [RCV002937729] Chr22:20887825 [GRCh38]
Chr22:21242113 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.157G>A (p.Ala53Thr) single nucleotide variant not provided [RCV002720176] Chr22:20859267 [GRCh38]
Chr22:21213555 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.153C>G (p.Arg51=) single nucleotide variant not provided [RCV002900201] Chr22:20859263 [GRCh38]
Chr22:21213551 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.81C>G (p.Asp27Glu) single nucleotide variant not provided [RCV002578263] Chr22:20859191 [GRCh38]
Chr22:21213479 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.60C>T (p.Ala20=) single nucleotide variant not provided [RCV002604851] Chr22:20859170 [GRCh38]
Chr22:21213458 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.136C>A (p.Arg46=) single nucleotide variant not provided [RCV002605114] Chr22:20859246 [GRCh38]
Chr22:21213534 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.142G>A (p.Glu48Lys) single nucleotide variant not provided [RCV002943732] Chr22:20859252 [GRCh38]
Chr22:21213540 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.401A>C (p.Gln134Pro) single nucleotide variant not provided [RCV002657927] Chr22:20870500 [GRCh38]
Chr22:21224788 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.103C>T (p.Pro35Ser) single nucleotide variant Inborn genetic diseases [RCV003349054]|not provided [RCV002611638] Chr22:20859213 [GRCh38]
Chr22:21213501 [GRCh37]
Chr22:22q11.21		 uncertain significance
Single allele deletion See cases [RCV003154622] Chr22:18893886..21386103 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20354589-21405291) copy number loss 22q11.2 central deletion syndrome [RCV003223565] Chr22:20354589..21405291 [GRCh38]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3 copy number gain Chromosome 22q11.2 deletion syndrome, distal [RCV003329514]|Velocardiofacial syndrome [RCV003329513] Chr22:18893838..21416074 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20609932-21576553)x1 copy number loss Chromosome 22q11.2 deletion syndrome, distal [RCV003329503] Chr22:20609932..21576553 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1 copy number loss DiGeorge syndrome [RCV003327705] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.14C>G (p.Pro5Arg) single nucleotide variant Inborn genetic diseases [RCV003372062] Chr22:20859124 [GRCh38]
Chr22:21213412 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.619+8T>G single nucleotide variant not provided [RCV003570434] Chr22:20883577 [GRCh38]
Chr22:21237865 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.435-17T>C single nucleotide variant not provided [RCV003570334] Chr22:20881032 [GRCh38]
Chr22:21235320 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1 copy number loss not provided [RCV003457105] Chr22:18893888..21563415 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3 copy number gain Microcephaly-digital anomalies-intellectual disability syndrome [RCV003444168] Chr22:18856290..21070117 [GRCh38]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.375C>A (p.Ser125=) single nucleotide variant not provided [RCV003437495] Chr22:20870474 [GRCh38]
Chr22:21224762 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.384A>G (p.Val128=) single nucleotide variant not provided [RCV003437496] Chr22:20870483 [GRCh38]
Chr22:21224771 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.105C>G (p.Pro35=) single nucleotide variant not provided [RCV003829947] Chr22:20859215 [GRCh38]
Chr22:21213503 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.564T>C (p.Ala188=) single nucleotide variant not provided [RCV003687638] Chr22:20883514 [GRCh38]
Chr22:21237802 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.405T>C (p.Asn135=) single nucleotide variant not provided [RCV003827528] Chr22:20870504 [GRCh38]
Chr22:21224792 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.133T>C (p.Leu45=) single nucleotide variant not provided [RCV003712843] Chr22:20859243 [GRCh38]
Chr22:21213531 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.435-9T>G single nucleotide variant not provided [RCV003692896] Chr22:20881040 [GRCh38]
Chr22:21235328 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.190C>T (p.Leu64=) single nucleotide variant not provided [RCV003829122] Chr22:20859300 [GRCh38]
Chr22:21213588 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.558T>C (p.Thr186=) single nucleotide variant not provided [RCV003694459] Chr22:20883508 [GRCh38]
Chr22:21237796 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.435-9T>C single nucleotide variant not provided [RCV003572080] Chr22:20881040 [GRCh38]
Chr22:21235328 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.171C>T (p.Ala57=) single nucleotide variant not provided [RCV003829726] Chr22:20859281 [GRCh38]
Chr22:21213569 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.436T>C (p.Leu146=) single nucleotide variant not provided [RCV003878741] Chr22:20881050 [GRCh38]
Chr22:21235338 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.139C>T (p.Gln47Ter) single nucleotide variant not provided [RCV003547971] Chr22:20859249 [GRCh38]
Chr22:21213537 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.159T>A (p.Ala53=) single nucleotide variant not provided [RCV003714280] Chr22:20859269 [GRCh38]
Chr22:21213557 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.516T>C (p.Asp172=) single nucleotide variant not provided [RCV003578734] Chr22:20881130 [GRCh38]
Chr22:21235418 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.603G>A (p.Lys201=) single nucleotide variant not provided [RCV003574309] Chr22:20883553 [GRCh38]
Chr22:21237841 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.159T>G (p.Ala53=) single nucleotide variant not provided [RCV003662966] Chr22:20859269 [GRCh38]
Chr22:21213557 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.165C>T (p.Ala55=) single nucleotide variant not provided [RCV003547343] Chr22:20859275 [GRCh38]
Chr22:21213563 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.235G>T (p.Glu79Ter) single nucleotide variant not provided [RCV003544195] Chr22:20859345 [GRCh38]
Chr22:21213633 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.238-20C>G single nucleotide variant not provided [RCV003659653] Chr22:20870317 [GRCh38]
Chr22:21224605 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.279G>A (p.Lys93=) single nucleotide variant not provided [RCV003850311] Chr22:20870378 [GRCh38]
Chr22:21224666 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.102G>T (p.Gly34=) single nucleotide variant not provided [RCV003663632] Chr22:20859212 [GRCh38]
Chr22:21213500 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.435-18G>A single nucleotide variant not provided [RCV003696800] Chr22:20881031 [GRCh38]
Chr22:21235319 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.238-14C>T single nucleotide variant not provided [RCV003659284] Chr22:20870323 [GRCh38]
Chr22:21224611 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.237+14A>G single nucleotide variant not provided [RCV003832619] Chr22:20859361 [GRCh38]
Chr22:21213649 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.108del (p.Asp36fs) deletion not provided [RCV003702716] Chr22:20859218 [GRCh38]
Chr22:21213506 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.538dup (p.Ala180fs) duplication not provided [RCV003698367] Chr22:20883484..20883485 [GRCh38]
Chr22:21237772..21237773 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.238-6C>A single nucleotide variant not provided [RCV003833513] Chr22:20870331 [GRCh38]
Chr22:21224619 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.180C>T (p.Thr60=) single nucleotide variant not provided [RCV003726838] Chr22:20859290 [GRCh38]
Chr22:21213578 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.105C>T (p.Pro35=) single nucleotide variant not provided [RCV003832717] Chr22:20859215 [GRCh38]
Chr22:21213503 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.234C>T (p.Ser78=) single nucleotide variant not provided [RCV003833679] Chr22:20859344 [GRCh38]
Chr22:21213632 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.247_248del (p.Arg83fs) deletion not provided [RCV003702372] Chr22:20870346..20870347 [GRCh38]
Chr22:21224634..21224635 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.285G>A (p.Val95=) single nucleotide variant not provided [RCV003856170] Chr22:20870384 [GRCh38]
Chr22:21224672 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.434+20T>G single nucleotide variant not provided [RCV003701884] Chr22:20870553 [GRCh38]
Chr22:21224841 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.237+11G>A single nucleotide variant not provided [RCV003701703] Chr22:20859358 [GRCh38]
Chr22:21213646 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.521-9T>C single nucleotide variant not provided [RCV003550150] Chr22:20883462 [GRCh38]
Chr22:21237750 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.253C>T (p.Arg85Ter) single nucleotide variant not provided [RCV003724248] Chr22:20870352 [GRCh38]
Chr22:21224640 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.435-8A>G single nucleotide variant not provided [RCV003673526] Chr22:20881041 [GRCh38]
Chr22:21235329 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.521-13C>T single nucleotide variant not provided [RCV003723391] Chr22:20883458 [GRCh38]
Chr22:21237746 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.238-13T>A single nucleotide variant not provided [RCV003851006] Chr22:20870324 [GRCh38]
Chr22:21224612 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.198C>T (p.Leu66=) single nucleotide variant not provided [RCV003850339] Chr22:20859308 [GRCh38]
Chr22:21213596 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.666G>A (p.Gly222=) single nucleotide variant not provided [RCV003837372] Chr22:20887725 [GRCh38]
Chr22:21242013 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.12C>T (p.Tyr4=) single nucleotide variant not provided [RCV003698226] Chr22:20859122 [GRCh38]
Chr22:21213410 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.520+2T>C single nucleotide variant not provided [RCV003700275] Chr22:20881136 [GRCh38]
Chr22:21235424 [GRCh37]
Chr22:22q11.21		 likely pathogenic
NM_004782.4(SNAP29):c.141G>A (p.Gln47=) single nucleotide variant not provided [RCV003838816] Chr22:20859251 [GRCh38]
Chr22:21213539 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.434+19A>G single nucleotide variant not provided [RCV003702122] Chr22:20870552 [GRCh38]
Chr22:21224840 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.66G>A (p.Pro22=) single nucleotide variant not provided [RCV003855217] Chr22:20859176 [GRCh38]
Chr22:21213464 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.434+14C>T single nucleotide variant not provided [RCV003557761] Chr22:20870547 [GRCh38]
Chr22:21224835 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.520+19G>A single nucleotide variant not provided [RCV003699980] Chr22:20881153 [GRCh38]
Chr22:21235441 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.453T>C (p.Ser151=) single nucleotide variant not provided [RCV003672845] Chr22:20881067 [GRCh38]
Chr22:21235355 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.438G>A (p.Leu146=) single nucleotide variant not provided [RCV003702214] Chr22:20881052 [GRCh38]
Chr22:21235340 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.243C>T (p.Leu81=) single nucleotide variant not provided [RCV003728553] Chr22:20870342 [GRCh38]
Chr22:21224630 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.768A>T (p.Arg256=) single nucleotide variant not provided [RCV003704377] Chr22:20887827 [GRCh38]
Chr22:21242115 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.354G>T (p.Gly118=) single nucleotide variant not provided [RCV003674856] Chr22:20870453 [GRCh38]
Chr22:21224741 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.771A>G (p.Gln257=) single nucleotide variant not provided [RCV003860003] Chr22:20887830 [GRCh38]
Chr22:21242118 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.39C>T (p.Asp13=) single nucleotide variant not provided [RCV003706683] Chr22:20859149 [GRCh38]
Chr22:21213437 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.597C>T (p.His199=) single nucleotide variant not provided [RCV003820102] Chr22:20883547 [GRCh38]
Chr22:21237835 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.606C>A (p.Ile202=) single nucleotide variant not provided [RCV003732881] Chr22:20883556 [GRCh38]
Chr22:21237844 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.426C>G (p.Pro142=) single nucleotide variant not provided [RCV003550389] Chr22:20870525 [GRCh38]
Chr22:21224813 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.237+17G>A single nucleotide variant not provided [RCV003720966] Chr22:20859364 [GRCh38]
Chr22:21213652 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.306G>A (p.Leu102=) single nucleotide variant not provided [RCV003563709] Chr22:20870405 [GRCh38]
Chr22:21224693 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.96C>T (p.Pro32=) single nucleotide variant not provided [RCV003733981] Chr22:20859206 [GRCh38]
Chr22:21213494 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.111G>T (p.Ala37=) single nucleotide variant not provided [RCV003821961] Chr22:20859221 [GRCh38]
Chr22:21213509 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.198C>G (p.Leu66=) single nucleotide variant not provided [RCV003684037] Chr22:20859308 [GRCh38]
Chr22:21213596 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.414C>T (p.Leu138=) single nucleotide variant not provided [RCV003719829] Chr22:20870513 [GRCh38]
Chr22:21224801 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.45G>A (p.Gly15=) single nucleotide variant not provided [RCV003861050] Chr22:20859155 [GRCh38]
Chr22:21213443 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.261C>T (p.Val87=) single nucleotide variant not provided [RCV003566385] Chr22:20870360 [GRCh38]
Chr22:21224648 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.238-14C>G single nucleotide variant not provided [RCV003821409] Chr22:20870323 [GRCh38]
Chr22:21224611 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.354G>C (p.Gly118=) single nucleotide variant not provided [RCV003865167] Chr22:20870453 [GRCh38]
Chr22:21224741 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.549C>T (p.Ala183=) single nucleotide variant not provided [RCV003704656] Chr22:20883499 [GRCh38]
Chr22:21237787 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.237+13C>T single nucleotide variant not provided [RCV003865492] Chr22:20859360 [GRCh38]
Chr22:21213648 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.434+9A>G single nucleotide variant not provided [RCV003681064] Chr22:20870542 [GRCh38]
Chr22:21224830 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.466C>T (p.Gln156Ter) single nucleotide variant not provided [RCV003564656] Chr22:20881080 [GRCh38]
Chr22:21235368 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.234del (p.Glu79fs) deletion not provided [RCV003564805] Chr22:20859343 [GRCh38]
Chr22:21213631 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.468G>A (p.Gln156=) single nucleotide variant not provided [RCV003861446] Chr22:20881082 [GRCh38]
Chr22:21235370 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.619+17C>T single nucleotide variant not provided [RCV003863294] Chr22:20883586 [GRCh38]
Chr22:21237874 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.237+8T>C single nucleotide variant not provided [RCV003704327] Chr22:20859355 [GRCh38]
Chr22:21213643 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.345G>A (p.Val115=) single nucleotide variant not provided [RCV003565065] Chr22:20870444 [GRCh38]
Chr22:21224732 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.705C>T (p.Asp235=) single nucleotide variant not provided [RCV003860015] Chr22:20887764 [GRCh38]
Chr22:21242052 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.642T>C (p.Gly214=) single nucleotide variant not provided [RCV003822879] Chr22:20887701 [GRCh38]
Chr22:21241989 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.238-1G>A single nucleotide variant not provided [RCV003552726] Chr22:20870336 [GRCh38]
Chr22:21224624 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18919478-21461017)x3 copy number gain not provided [RCV004442819] Chr22:18919478..21461017 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20716877-21800471)x1 copy number loss not provided [RCV004442740] Chr22:20716877..21800471 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3 copy number gain not provided [RCV004442756] Chr22:18919478..21927646 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20730144-21464764)x1 copy number loss See cases [RCV004442797] Chr22:20730144..21464764 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3 copy number gain not provided [RCV004442843] Chr22:18649190..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20723686-21800471)x1 copy number loss not provided [RCV004442815] Chr22:20723686..21800471 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21061979-21418457)x3 copy number gain not provided [RCV003885496] Chr22:21061979..21418457 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.520+3A>G single nucleotide variant SNAP29-related disorder [RCV003962180] Chr22:20881137 [GRCh38]
Chr22:21235425 [GRCh37]
Chr22:22q11.21		 likely benign
NM_004782.4(SNAP29):c.573G>T (p.Lys191Asn) single nucleotide variant Inborn genetic diseases [RCV004462233] Chr22:20883523 [GRCh38]
Chr22:21237811 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.655A>G (p.Ile219Val) single nucleotide variant Inborn genetic diseases [RCV004462234] Chr22:20887714 [GRCh38]
Chr22:21242002 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.389C>G (p.Thr130Ser) single nucleotide variant Inborn genetic diseases [RCV004462232] Chr22:20870488 [GRCh38]
Chr22:21224776 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1 copy number loss See cases [RCV004442844] Chr22:18648856..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.-3A>G single nucleotide variant SNAP29-related disorder [RCV003969390] Chr22:20859108 [GRCh38]
Chr22:21213396 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:19016502-21464637)x1 copy number loss not provided [RCV004577504] Chr22:19016502..21464637 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20730747-21465668)x3 copy number gain not provided [RCV004577451] Chr22:20730747..21465668 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18888685-21465668)x1 copy number loss not provided [RCV004577450] Chr22:18888685..21465668 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_004782.4(SNAP29):c.239A>C (p.Glu80Ala) single nucleotide variant Inborn genetic diseases [RCV004670262] Chr22:20870338 [GRCh38]
Chr22:21224626 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_004782.4(SNAP29):c.193G>A (p.Ala65Thr) single nucleotide variant SNAP29-related disorder [RCV004757793] Chr22:20859303 [GRCh38]
Chr22:21213591 [GRCh37]
Chr22:22q11.21		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1337
Count of miRNA genes:773
Interacting mature miRNAs:889
Transcripts:ENST00000215730, ENST00000439214, ENST00000490458
Prediction methods:Miranda, Rnahybrid
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
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human

Markers in Region
RH68848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,242,059 - 21,242,194UniSTSGRCh37
Build 362219,572,059 - 19,572,194RGDNCBI36
Celera224,733,405 - 4,733,540RGD
Cytogenetic Map22q11.21UniSTS
HuRef224,510,200 - 4,510,335UniSTS
GeneMap99-GB4 RH Map229.72UniSTS
NCBI RH Map2240.2UniSTS
RH101941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,243,497 - 21,243,625UniSTSGRCh37
Build 362219,573,497 - 19,573,625RGDNCBI36
Celera224,734,837 - 4,734,965RGD
Cytogenetic Map22q11.21UniSTS
HuRef224,511,630 - 4,511,758UniSTS
GeneMap99-GB4 RH Map2227.22UniSTS
SHGC-82177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,213,905 - 21,214,236UniSTSGRCh37
Build 362219,543,905 - 19,544,236RGDNCBI36
Celera224,705,244 - 4,705,575RGD
Cytogenetic Map22q11.21UniSTS
HuRef224,482,046 - 4,482,377UniSTS
SNAP29__6871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,243,121 - 21,243,970UniSTSGRCh37
Build 362219,573,121 - 19,573,970RGDNCBI36
Celera224,734,461 - 4,735,310RGD
HuRef224,511,254 - 4,512,103UniSTS
D22S1201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,243,867 - 21,244,023UniSTSGRCh37
Build 362219,573,867 - 19,574,023RGDNCBI36
Celera224,735,207 - 4,735,363RGD
Cytogenetic Map22q11.21UniSTS
HuRef224,512,000 - 4,512,156UniSTS
GeneMap99-GB4 RH Map2227.43UniSTS
Whitehead-RH Map2228.5UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4943 1723 2345 4 622 1948 464 2268 7281 6454 52 3709 847 1732 1612 171

Sequence


Ensembl Acc Id: ENST00000215730   ⟹   ENSP00000215730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,859,007 - 20,891,214 (+)Ensembl
Ensembl Acc Id: ENST00000439214   ⟹   ENSP00000411095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,859,483 - 20,887,819 (+)Ensembl
Ensembl Acc Id: ENST00000490458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,859,081 - 20,871,041 (+)Ensembl
RefSeq Acc Id: NM_004782   ⟹   NP_004773
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,859,007 - 20,891,214 (+)NCBI
GRCh372221,213,292 - 21,245,502 (+)ENTREZGENE
Build 362219,543,292 - 19,574,109 (+)NCBI Archive
HuRef224,481,433 - 4,513,635 (+)ENTREZGENE
CHM1_12221,213,478 - 21,245,708 (+)NCBI
T2T-CHM13v2.02221,267,728 - 21,299,920 (+)NCBI
Sequence:
RefSeq Acc Id: NP_004773   ⟸   NM_004782
- UniProtKB: O95721 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000411095   ⟸   ENST00000439214
Ensembl Acc Id: ENSP00000215730   ⟸   ENST00000215730
Protein Domains
t-SNARE coiled-coil homology

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95721-F1-model_v2 AlphaFold O95721 1-258 view protein structure

Promoters
RGD ID:6800382
Promoter ID:HG_KWN:41688
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000320000,   OTTHUMT00000320147,   OTTHUMT00000320148,   UC002ZTE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,542,516 - 19,543,312 (+)MPROMDB
RGD ID:13603292
Promoter ID:EPDNEW_H27830
Type:initiation region
Name:SNAP29_1
Description:synaptosome associated protein 29
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
GRCh382220,859,079 - 20,859,139EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11133 AgrOrtholog
COSMIC SNAP29 COSMIC
Ensembl Genes ENSG00000099940 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000215730 ENTREZGENE
  ENST00000215730.12 UniProtKB/Swiss-Prot
  ENST00000439214.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000099940 GTEx
HGNC ID HGNC:11133 ENTREZGENE
Human Proteome Map SNAP29 Human Proteome Map
InterPro T_SNARE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9342 UniProtKB/Swiss-Prot
NCBI Gene 9342 ENTREZGENE
OMIM 604202 OMIM
PANTHER SYNAPTOSOMAL ASSOCIATED PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SYNAPTOSOMAL-ASSOCIATED PROTEIN 29 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35981 PharmGKB
PROSITE T_SNARE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART t_SNARE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SNARE fusion complex UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9JAF7_HUMAN UniProtKB/TrEMBL
  L8E847_HUMAN UniProtKB/TrEMBL
  O95721 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 SNAP29  synaptosome associated protein 29  SNAP29  synaptosome associated protein 29kDa  Symbol and/or name change 5135510 APPROVED
2015-11-17 SNAP29  synaptosome associated protein 29kDa  SNAP29  synaptosomal-associated protein, 29kDa  Symbol and/or name change 5135510 APPROVED