GJA8 (gap junction protein alpha 8) - Rat Genome Database

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Gene: GJA8 (gap junction protein alpha 8) Homo sapiens
Analyze
Symbol: GJA8
Name: gap junction protein alpha 8
RGD ID: 732563
HGNC Page HGNC:4281
Description: Enables gap junction channel activity. Involved in gap junction-mediated intercellular transport. Located in plasma membrane. Part of connexin complex. Implicated in cataract and cataract 1 multiple types.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CAE; CAE1; cell surface glycoprotein; connexin 50; connexin-50; CTRCT1; CX50; CZP1; gap junction alpha 8; gap junction alpha-8 protein; gap junction membrane channel protein alpha 8; gap junction membrane channel protein alpha-8; gap junction protein alpha 8 50kDa; lens fiber protein MP70; lens intrinsic membrane protein MP70; MP70
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381147,902,795 - 147,914,486 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1147,902,795 - 147,909,269 (+)EnsemblGRCh38hg38GRCh38
GRCh371147,374,921 - 147,381,396 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361145,841,560 - 145,848,017 (+)NCBINCBI36Build 36hg18NCBI36
Build 341144,599,751 - 144,606,209NCBI
Celera1121,602,609 - 121,609,059 (-)NCBICelera
Cytogenetic Map1q21.2NCBI
HuRef1120,788,421 - 120,794,871 (+)NCBIHuRef
CHM1_11149,270,946 - 149,277,395 (+)NCBICHM1_1
T2T-CHM13v2.01146,892,371 - 146,904,865 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
anchoring junction  (IEA)
connexin complex  (IBA,IDA,IEA,ISO)
gap junction  (IEA)
membrane  (IEA)
plasma membrane  (IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Anteverted nares  (IAGP)
Aortic regurgitation  (IAGP)
Ascending tubular aorta aneurysm  (IAGP)
Atrial septal defect  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Axial hypotonia  (IAGP)
Bicuspid aortic valve  (IAGP)
Bifid uvula  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Broad hallux  (IAGP)
Broad thumb  (IAGP)
Bulbous nose  (IAGP)
Camptodactyly  (IAGP)
Cataract  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarctation of aorta  (IAGP)
Congenital onset  (IAGP)
Corneal dystrophy  (IAGP)
Corneal opacity  (IAGP)
Deeply set eye  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental cataract  (IAGP)
Duane anomaly  (IAGP)
Duplication of thumb phalanx  (IAGP)
Epicanthus  (IAGP)
Esodeviation  (IAGP)
Exophoria  (IAGP)
Failure to thrive  (IAGP)
Frontal balding  (IAGP)
Frontal bossing  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypotelorism  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Iris coloboma  (IAGP)
Joint hypermobility  (IAGP)
Long lower eyelashes  (IAGP)
Long philtrum  (IAGP)
Low hanging columella  (IAGP)
Low-set ears  (IAGP)
Malar flattening  (IAGP)
Mandibular prognathia  (IAGP)
Mesoaxial foot polydactyly  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Motor stereotypy  (IAGP)
Muscular ventricular septal defect  (IAGP)
Myopia  (IAGP)
Nuclear cataract  (IAGP)
Nuclear pulverulent cataract  (IAGP)
Nystagmus  (IAGP)
Ocular anterior segment dysgenesis  (IAGP)
Overlapping toe  (IAGP)
Palmoplantar erythema  (IAGP)
Parathyroid carcinoma  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Perimembranous ventricular septal defect  (IAGP)
Pes planus  (IAGP)
Pointed chin  (IAGP)
Posterior subcapsular cataract  (IAGP)
Prominent fingertip pads  (IAGP)
Prominent forehead  (IAGP)
Prominent metopic ridge  (IAGP)
Prominent nasal bridge  (IAGP)
Prominent nose  (IAGP)
Prominent occiput  (IAGP)
Protruding ear  (IAGP)
Pulverulent cataract  (IAGP)
Round face  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short distal phalanx of finger  (IAGP)
Short neck  (IAGP)
Short palpebral fissure  (IAGP)
Simple ear  (IAGP)
Single transverse palmar crease  (IAGP)
Smooth philtrum  (IAGP)
Sporadic  (IAGP)
Strabismus  (IAGP)
Sutural cataract  (IAGP)
Synophrys  (IAGP)
Talipes  (IAGP)
Thick lower lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Transposition of the great arteries  (IAGP)
Tremor  (IAGP)
Triangular face  (IAGP)
Truncal obesity  (IAGP)
Truncus arteriosus  (IAGP)
Turricephaly  (IAGP)
Typified by incomplete penetrance  (IAGP)
Upslanted palpebral fissure  (IAGP)
Widely spaced teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q. Liska F, etal., Mol Vis. 2008 May 7;14:823-8.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. RefSeq and LocusLink: NCBI gene-centered resources Pruitt KD and Maglott DR, Nucleic Acids Res. 2001 Jan 1;29(1):137-40.
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Shiels A, etal., Am J Hum Genet. 1998 Mar;62(3):526-32.
9. Mapping of A gene responsible for cataract formation and its modifier in the UPL rat. Yamashita S, etal., Invest Ophthalmol Vis Sci 2002 Oct;43(10):3153-9.
Additional References at PubMed
PMID:396131   PMID:1491428   PMID:7796604   PMID:8549164   PMID:8889548   PMID:9479004   PMID:9664032   PMID:11023900   PMID:11944087   PMID:12107413   PMID:12808044   PMID:15696487  
PMID:16397066   PMID:16604058   PMID:16740131   PMID:17412882   PMID:17546509   PMID:17601931   PMID:17724170   PMID:18006672   PMID:18247306   PMID:18334946   PMID:18334966   PMID:18483562  
PMID:18587493   PMID:19684000   PMID:19756179   PMID:20019893   PMID:20582632   PMID:20597646   PMID:20806042   PMID:21174522   PMID:21228318   PMID:21348049   PMID:21378309   PMID:21386927  
PMID:21423869   PMID:21686328   PMID:21873635   PMID:21921990   PMID:21965293   PMID:23555834   PMID:23592913   PMID:23720739   PMID:24005045   PMID:24281366   PMID:24535056   PMID:24722188  
PMID:25003127   PMID:25301372   PMID:25403472   PMID:25517998   PMID:25549162   PMID:25947639   PMID:26004348   PMID:26174669   PMID:27143357   PMID:27216975   PMID:27785597   PMID:27990357  
PMID:28455998   PMID:28526010   PMID:28706245   PMID:28827829   PMID:29434075   PMID:29464339   PMID:29489419   PMID:30078984   PMID:30262699   PMID:30349978   PMID:30373400   PMID:30542154  
PMID:30575818   PMID:30890130   PMID:30928190   PMID:31618082   PMID:31844091   PMID:32272685   PMID:32296183   PMID:32384692   PMID:32457413   PMID:32971763   PMID:33218330   PMID:33729478  
PMID:33961781   PMID:34226295   PMID:34762867   PMID:35120923   PMID:35726576   PMID:35980487   PMID:36262071   PMID:38145302  


Genomics

Comparative Map Data
GJA8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381147,902,795 - 147,914,486 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1147,902,795 - 147,909,269 (+)EnsemblGRCh38hg38GRCh38
GRCh371147,374,921 - 147,381,396 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361145,841,560 - 145,848,017 (+)NCBINCBI36Build 36hg18NCBI36
Build 341144,599,751 - 144,606,209NCBI
Celera1121,602,609 - 121,609,059 (-)NCBICelera
Cytogenetic Map1q21.2NCBI
HuRef1120,788,421 - 120,794,871 (+)NCBIHuRef
CHM1_11149,270,946 - 149,277,395 (+)NCBICHM1_1
T2T-CHM13v2.01146,892,371 - 146,904,865 (-)NCBIT2T-CHM13v2.0
Gja8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39396,820,882 - 96,833,367 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl396,820,882 - 96,833,336 (-)EnsemblGRCm39 Ensembl
GRCm38396,913,566 - 96,926,051 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl396,913,566 - 96,926,020 (-)EnsemblGRCm38mm10GRCm38
MGSCv37396,722,945 - 96,729,853 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36397,004,427 - 97,011,335 (-)NCBIMGSCv36mm8
Celera398,326,218 - 98,333,125 (-)NCBICelera
Cytogenetic Map3F2.1NCBI
cM Map342.03NCBI
Gja8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82187,179,668 - 187,181,284 (-)NCBIGRCr8
mRatBN7.22184,490,840 - 184,492,456 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2184,490,840 - 184,492,456 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2192,132,950 - 192,134,566 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02189,930,874 - 189,932,490 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02184,765,517 - 184,767,133 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02199,050,854 - 199,052,470 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2199,050,854 - 199,052,470 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02218,536,831 - 218,538,447 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera2176,986,507 - 176,988,123 (-)NCBICelera
Cytogenetic Map2q34NCBI
Gja8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955568515,113 - 516,435 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955568514,905 - 516,551 (-)NCBIChiLan1.0ChiLan1.0
GJA8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21101,790,607 - 101,799,706 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11101,379,904 - 101,388,145 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01123,352,801 - 123,355,625 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11112,176,580 - 112,183,032 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1112,174,365 - 112,177,893 (-)Ensemblpanpan1.1panPan2
GJA8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11758,360,313 - 58,428,751 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1758,424,072 - 58,425,391 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1757,828,663 - 57,898,680 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01759,356,989 - 59,426,996 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1759,419,303 - 59,425,425 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11758,229,994 - 58,300,020 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01758,290,623 - 58,360,697 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01759,017,265 - 59,087,398 (+)NCBIUU_Cfam_GSD_1.0
Gja8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505820,498,517 - 20,501,991 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936867374,638 - 375,933 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936867374,638 - 378,080 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GJA8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl499,723,341 - 99,724,672 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1499,721,754 - 99,724,943 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24109,541,665 - 109,561,100 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GJA8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366603814,328,894 - 14,335,477 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gja8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477216,959,615 - 16,960,937 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477216,959,615 - 16,960,937 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GJA8
172 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005267.5(GJA8):c.487G>A (p.Val163Met) single nucleotide variant Cataract 1 multiple types [RCV000554149] Chr1:147908442 [GRCh38]
Chr1:147380569 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.262C>T (p.Pro88Ser) single nucleotide variant Cataract 1 multiple types [RCV000009259] Chr1:147908217 [GRCh38]
Chr1:147380344 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.142G>A (p.Glu48Lys) single nucleotide variant Cataract 1 multiple types [RCV000009260] Chr1:147908097 [GRCh38]
Chr1:147380224 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.741T>G (p.Ile247Met) single nucleotide variant Cataract 1 multiple types [RCV000009261]|not provided [RCV001253880] Chr1:147908696 [GRCh38]
Chr1:147380823 [GRCh37]
Chr1:1q21.2
pathogenic|benign|likely benign
NM_005267.5(GJA8):c.68G>C (p.Arg23Thr) single nucleotide variant Cataract 1 multiple types [RCV000009262] Chr1:147908023 [GRCh38]
Chr1:147380150 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.131T>A (p.Val44Glu) single nucleotide variant Cataract 1 multiple types [RCV000009263] Chr1:147908086 [GRCh38]
Chr1:147380213 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.139G>A (p.Asp47Asn) single nucleotide variant Cataract 1 multiple types [RCV000009265] Chr1:147908094 [GRCh38]
Chr1:147380221 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.566C>T (p.Pro189Leu) single nucleotide variant Cataract 1 multiple types [RCV000059334] Chr1:147908521 [GRCh38]
Chr1:147380648 [GRCh37]
Chr1:1q21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207) copy number gain Optic atrophy [RCV000626498] Chr1:146618988..147824207 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.97C>T (p.Arg33Trp) single nucleotide variant Cataract 1 multiple types [RCV000542930] Chr1:147908052 [GRCh38]
Chr1:147380179 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.593G>A (p.Arg198Gln) single nucleotide variant Cataract 1 multiple types [RCV000009264] Chr1:147908548 [GRCh38]
Chr1:147380675 [GRCh37]
Chr1:1q21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147035964-148359881)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050346]|See cases [RCV000050346] Chr1:147035964..148359881 [GRCh38]
Chr1:146507518..147909094 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000050278] Chr1:145215697..149076087 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000050868] Chr1:145215697..149076087 [GRCh38]
Chr1:145799543..148545520 [GRCh37]
Chr1:144510900..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x3 copy number gain See cases [RCV000050917] Chr1:146987841..148234205 [GRCh38]
Chr1:145987156..147411593 [GRCh37]
Chr1:144698513..145878217 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 copy number gain See cases [RCV000050515] Chr1:146987841..148436984 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145439580-148359881)x1 copy number loss See cases [RCV000050516] Chr1:145439580..148359881 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000050688] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x1 copy number loss Global developmental delay [RCV000050689]|See cases [RCV000050689] Chr1:145232830..148587578 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x1 copy number loss See cases [RCV000050634] Chr1:146354110..148503773 [GRCh38]
Chr1:146143189..149699420 [GRCh37]
Chr1:144854546..147966044 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3 copy number gain See cases [RCV000051109] Chr1:120836007..149583533 [GRCh38]
Chr1:145451329..156102366 [GRCh37]
Chr1:144162686..154368990 [NCBI36]
Chr1:1p11.2-q22
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x3 copy number gain See cases [RCV000051058] Chr1:146987841..148359881 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x1 copy number loss Nonsyndromic microcephaly [RCV000051059]|Expressive language delay [RCV000051060]|Global developmental delay [RCV000051061]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051062]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051062]|See cases [RCV000051059] Chr1:146987841..148359881 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1p12-q21.2(chr1:120836007-149583533)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051844]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051844]|See cases [RCV000051844] Chr1:120836007..149583533 [GRCh38]
Chr1:145425395..153212501 [GRCh37]
Chr1:144136752..151479125 [NCBI36]
Chr1:1p12-q21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 copy number loss See cases [RCV000052252] Chr1:146987841..148437125 [GRCh38]
Chr1:145986956..147909235 [GRCh37]
Chr1:144698313..146375859 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436925)x1 copy number loss See cases [RCV000052262] Chr1:146987841..148436925 [GRCh38]
Chr1:145987156..147909035 [GRCh37]
Chr1:144698513..146375659 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1 copy number loss See cases [RCV000052264] Chr1:146987841..148328747 [GRCh38]
Chr1:146079197..147800872 [GRCh37]
Chr1:144790554..146267496 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1 copy number loss See cases [RCV000052267] Chr1:146987841..148328747 [GRCh38]
Chr1:146083024..147800872 [GRCh37]
Chr1:144794381..146267496 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148444397)x1 copy number loss See cases [RCV000052269] Chr1:146987841..148444397 [GRCh38]
Chr1:146096433..147916499 [GRCh37]
Chr1:144807790..146383123 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1 copy number loss See cases [RCV000052271] Chr1:146987841..148234205 [GRCh38]
Chr1:146096433..147400685 [GRCh37]
Chr1:144807790..145867309 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1 copy number loss See cases [RCV000052272] Chr1:146987841..148328747 [GRCh38]
Chr1:146096433..147800872 [GRCh37]
Chr1:144807790..146267496 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x3 copy number gain See cases [RCV000052276] Chr1:146987841..148437125 [GRCh38]
Chr1:146142989..147909235 [GRCh37]
Chr1:144854346..146375859 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 copy number loss See cases [RCV000052277] Chr1:146987841..148437125 [GRCh38]
Chr1:146142989..147909235 [GRCh37]
Chr1:144854346..146375859 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x3 copy number gain See cases [RCV000052282] Chr1:146987841..148359881 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000052283] Chr1:146987841..148436984 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052297]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052297]|See cases [RCV000052297] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545535 [GRCh37]
Chr1:144854546..146812159 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1 copy number loss See cases [RCV000052244] Chr1:145215697..148534530 [GRCh38]
Chr1:145451329..148309094 [GRCh37]
Chr1:144162686..146675718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052245]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052245]|See cases [RCV000052245] Chr1:146987841..148437125 [GRCh38]
Chr1:145655792..147909235 [GRCh37]
Chr1:144367149..146375859 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000052247] Chr1:146987841..148436984 [GRCh38]
Chr1:145655992..147909094 [GRCh37]
Chr1:144367349..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000052248] Chr1:143515074..149076087 [GRCh38]
Chr1:145655992..149232481 [GRCh37]
Chr1:144367349..147499105 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148167468)x1 copy number loss See cases [RCV000052299] Chr1:147029419..148167468 [GRCh38]
Chr1:146500972..147711813 [GRCh37]
Chr1:144967596..146178437 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148342687)x1 copy number loss See cases [RCV000052303] Chr1:147029419..148342687 [GRCh38]
Chr1:146500972..147814815 [GRCh37]
Chr1:144967596..146281439 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147093177-148262736)x1 copy number loss See cases [RCV000052306] Chr1:147093177..148262736 [GRCh38]
Chr1:146564743..147735011 [GRCh37]
Chr1:145031367..146201635 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053171]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053171]|See cases [RCV000053171]|See cases [RCV000509068] Chr1:145215697..149076087 [GRCh38]
Chr1:145425395..148545520 [GRCh37]
Chr1:144136752..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|conflicting data from submitters
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053172]|See cases [RCV000053172] Chr1:145425395..148867610 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053173]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053173]|See cases [RCV000053173] Chr1:144572470..149076087 [GRCh38]
Chr1:145425395..148936712 [GRCh37]
Chr1:144136752..147203336 [NCBI36]
Chr1:1q21.1-21.2
uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000053185] Chr1:144572470..149076087 [GRCh38]
Chr1:145746912..148752268 [GRCh37]
Chr1:144458269..147018892 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148492647)x3 copy number gain See cases [RCV000053186] Chr1:146987841..148492647 [GRCh38]
Chr1:145764367..147988684 [GRCh37]
Chr1:144475724..146455308 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000053187] Chr1:144572470..149076087 [GRCh38]
Chr1:145764368..148752268 [GRCh37]
Chr1:144475725..147018892 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000053191] Chr1:145215697..149076087 [GRCh38]
Chr1:145764368..148346383 [GRCh37]
Chr1:144475725..146713007 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148287692)x3 copy number gain See cases [RCV000053192] Chr1:146987841..148287692 [GRCh38]
Chr1:146083023..147759798 [GRCh37]
Chr1:144794380..146226422 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148444397)x3 copy number gain See cases [RCV000053193] Chr1:146987841..148444397 [GRCh38]
Chr1:146083024..147916499 [GRCh37]
Chr1:144794381..146383123 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000053203] Chr1:145215697..149076087 [GRCh38]
Chr1:146142989..148545676 [GRCh37]
Chr1:144854346..146812300 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147055789-148328747)x3 copy number gain See cases [RCV000053204] Chr1:147055789..148328747 [GRCh38]
Chr1:146527351..147800872 [GRCh37]
Chr1:144993975..146267496 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147099720-148273480)x3 copy number gain See cases [RCV000053205] Chr1:147099720..148273480 [GRCh38]
Chr1:146571304..147745610 [GRCh37]
Chr1:145037928..146212234 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147099720-148436984)x3 copy number gain See cases [RCV000053206] Chr1:147099720..148436984 [GRCh38]
Chr1:146571304..147909094 [GRCh37]
Chr1:145037928..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3 copy number gain See cases [RCV000053170] Chr1:145215697..148492647 [GRCh38]
Chr1:145388356..148216139 [GRCh37]
Chr1:144099713..146582763 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 copy number loss See cases [RCV000053743] Chr1:146987841..148437125 [GRCh38]
Chr1:145425195..147909235 [GRCh37]
Chr1:144136552..146375859 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143646745-148752268)x1 copy number loss See cases [RCV000053699] Chr1:143646745..148752268 [GRCh37]
Chr1:142438268..147018892 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-149343657)x1 copy number loss See cases [RCV000053725] Chr1:146987841..149343657 [GRCh38]
Chr1:144912271..147814815 [GRCh37]
Chr1:143623628..146281439 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143721526-149232481)x1 copy number loss See cases [RCV000053700] Chr1:143721526..149232481 [GRCh37]
Chr1:142513049..147499105 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
NM_005267.4(GJA8):c.1274G>A (p.Arg425Gln) single nucleotide variant Malignant melanoma [RCV000059864] Chr1:147909229 [GRCh38]
Chr1:147381356 [GRCh37]
Chr1:145847980 [NCBI36]
Chr1:1q21.2
not provided
NM_005267.4(GJA8):c.129C>T (p.Phe43=) single nucleotide variant Malignant melanoma [RCV000064120] Chr1:147908084 [GRCh38]
Chr1:147380211 [GRCh37]
Chr1:145846835 [NCBI36]
Chr1:1q21.2
not provided
NM_005267.5(GJA8):c.658A>G (p.Asn220Asp) single nucleotide variant Cataract 1 multiple types [RCV000371883]|Cataract 1 multiple types [RCV002478715]|Developmental cataract [RCV000203393]|GJA8-related condition [RCV003937758]|Zonular Pulverulent Cataract [RCV000260914]|not provided [RCV000423334] Chr1:147908613 [GRCh38]
Chr1:147380740 [GRCh37]
Chr1:1q21.2
benign|likely benign
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000051059] Chr1:146987841..148436984 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3 copy number gain See cases [RCV000051832] Chr1:143965076..149471555 [GRCh38]
Chr1:119457515..121050554 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.151G>C (p.Asp51His) single nucleotide variant Cataract 1 multiple types [RCV000515508]|Microphthalmia and cataract [RCV000587821] Chr1:147908106 [GRCh38]
Chr1:147380233 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146506310-147824207) copy number loss Delayed speech and language development [RCV001291984] Chr1:146506310..147824207 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147035964-148436984)x1 copy number loss See cases [RCV000133790] Chr1:147035964..148436984 [GRCh38]
Chr1:146507518..147909094 [GRCh37]
Chr1:144974142..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.163A>G (p.Asn55Asp) single nucleotide variant Cataract 1 multiple types [RCV001332589] Chr1:147908118 [GRCh38]
Chr1:147380245 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:147035964-148436984)x3 copy number gain See cases [RCV000050346] Chr1:147035964..148436984 [GRCh38]
Chr1:146507518..147909094 [GRCh37]
Chr1:144974142..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000050689] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 copy number gain See cases [RCV000133640] Chr1:145232830..148587578 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x4 copy number gain See cases [RCV000053172] Chr1:144572470..149076087 [GRCh38]
Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1 copy number loss See cases [RCV000052242] Chr1:146987841..148234205 [GRCh38]
Chr1:145425395..146507577 [GRCh37]
Chr1:144136752..144974201 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x1 copy number loss See cases [RCV000134191] Chr1:146354110..148503773 [GRCh38]
Chr1:145388355..149418924 [GRCh37]
Chr1:144099712..147685548 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000134219] Chr1:146964168..148572213 [GRCh38]
Chr1:146038914..147838700 [GRCh37]
Chr1:144750271..146305324 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147035964-148352079)x3 copy number gain See cases [RCV000133957] Chr1:147035964..148352079 [GRCh38]
Chr1:146507518..147824207 [GRCh37]
Chr1:144974142..146290831 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148415560)x3 copy number gain See cases [RCV000134089] Chr1:146987841..148415560 [GRCh38]
Chr1:145899359..147887713 [GRCh37]
Chr1:144610716..146354337 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 copy number loss See cases [RCV000135335] Chr1:145601946..148572213 [GRCh38]
Chr1:145311043..147915048 [GRCh37]
Chr1:144022400..146381672 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146355224-148494171)x3 copy number gain See cases [RCV000135345] Chr1:146355224..148494171 [GRCh38]
Chr1:145899339..148782879 [GRCh37]
Chr1:144610696..147049503 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3 copy number gain See cases [RCV000135353] Chr1:145338382..148599763 [GRCh38]
Chr1:145271815..148254822 [GRCh37]
Chr1:143983172..146621446 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x3 copy number gain See cases [RCV000135740] Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x1 copy number loss See cases [RCV000135741] Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148355961)x3 copy number gain See cases [RCV000135684] Chr1:147029419..148355961 [GRCh38]
Chr1:146500972..147828089 [GRCh37]
Chr1:144967596..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x4 copy number gain See cases [RCV000135513] Chr1:146987841..148359881 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic|uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000135484] Chr1:146964168..148572213 [GRCh38]
Chr1:146074031..147834140 [GRCh37]
Chr1:144785388..146300764 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146355224-148503773)x3 copy number gain See cases [RCV000136532] Chr1:146355224..148503773 [GRCh38]
Chr1:145425395..149768855 [GRCh37]
Chr1:144136752..148035479 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic|uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:142618650-148535229)x3 copy number gain See cases [RCV000135936] Chr1:142618650..148535229 [GRCh37]
Chr1:141560173..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely benign
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000136047] Chr1:144572470..149076087 [GRCh38]
Chr1:145799556..148867640 [GRCh37]
Chr1:144510913..147134264 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3 copy number gain See cases [RCV000136866] Chr1:143515074..149076087 [GRCh38]
Chr1:145425395..149091187 [GRCh37]
Chr1:144136752..147357811 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147335698-147909284)x3 copy number gain See cases [RCV000136720] Chr1:147335698..147909284 [GRCh38]
Chr1:146807433..147381411 [GRCh37]
Chr1:145274057..145848035 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000137646] Chr1:144572470..149076087 [GRCh38]
Chr1:145788863..148809863 [GRCh37]
Chr1:144500220..147076487 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000137559] Chr1:145215697..149076087 [GRCh38]
Chr1:146053414..148535229 [GRCh37]
Chr1:144764771..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000137435] Chr1:143515074..149076087 [GRCh38]
Chr1:145626237..149244468 [GRCh37]
Chr1:144337594..147511092 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000137526] Chr1:146987841..148355961 [GRCh38]
Chr1:145655992..147828089 [GRCh37]
Chr1:144367349..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000137600] Chr1:146987841..148355961 [GRCh38]
Chr1:145804679..147828089 [GRCh37]
Chr1:144516036..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1 copy number loss See cases [RCV000137231] Chr1:146987841..148234205 [GRCh38]
Chr1:146143189..147721869 [GRCh37]
Chr1:144854546..146188493 [NCBI36]
Chr1:1q21.1-21.2
uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000138054] Chr1:146987841..148355961 [GRCh38]
Chr1:146053414..147828089 [GRCh37]
Chr1:144764771..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148352079)x3 copy number gain See cases [RCV000137889] Chr1:147029419..148352079 [GRCh38]
Chr1:146500972..147824207 [GRCh37]
Chr1:144967596..146290831 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147002657-148355961)x1 copy number loss See cases [RCV000137764] Chr1:147002657..148355961 [GRCh38]
Chr1:146474216..147828089 [GRCh37]
Chr1:144940840..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147071299-148355961)x1 copy number loss See cases [RCV000137947] Chr1:147071299..148355961 [GRCh38]
Chr1:146542843..147828089 [GRCh37]
Chr1:145009467..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000138893] Chr1:146987841..148355961 [GRCh38]
Chr1:145723321..147828089 [GRCh37]
Chr1:144434678..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146354110-148494217)x1 copy number loss See cases [RCV000138709] Chr1:146354110..148494217 [GRCh38]
Chr1:145626237..149453964 [GRCh37]
Chr1:144337594..147720588 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147036093-148352084)x3 copy number gain See cases [RCV000138851] Chr1:147036093..148352084 [GRCh38]
Chr1:146507649..147824212 [GRCh37]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:147156522-148352084)x3 copy number gain See cases [RCV000138854] Chr1:147156522..148352084 [GRCh38]
Chr1:146628101..147824212 [GRCh37]
Chr1:145094725..146290836 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4 copy number gain See cases [RCV000138438] Chr1:145215697..149076087 [GRCh38]
Chr1:146500972..148535229 [GRCh37]
Chr1:144967596..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148352084)x1 copy number loss See cases [RCV000138516] Chr1:146987841..148352084 [GRCh38]
Chr1:145415156..147824212 [GRCh37]
Chr1:144126513..146290836 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148352084)x3 copy number gain See cases [RCV000138637] Chr1:146987841..148352084 [GRCh38]
Chr1:145799556..147824212 [GRCh37]
Chr1:144510913..146290836 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 copy number gain See cases [RCV000138437] Chr1:145232830..148587578 [GRCh38]
Chr1:146500972..148535229 [GRCh37]
Chr1:144967596..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:147036155-147945622)x1 copy number loss See cases [RCV000139330] Chr1:147036155..147945622 [GRCh38]
Chr1:146507711..147417736 [GRCh37]
Chr1:144974335..145884360 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000139942] Chr1:146964168..148572213 [GRCh38]
Chr1:146105170..147830830 [GRCh37]
Chr1:144816527..146297454 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145751815-148000664)x3 copy number gain See cases [RCV000140155] Chr1:145751815..148000664 [GRCh37]
Chr1:144463172..146467288 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1 copy number loss See cases [RCV000139762] Chr1:143515074..149563337 [GRCh38]
Chr1:145415156..149433207 [GRCh37]
Chr1:144126513..147699831 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 copy number loss See cases [RCV000141206] Chr1:145601946..148572213 [GRCh38]
Chr1:145376675..147860552 [GRCh37]
Chr1:144088032..146327176 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000141344] Chr1:146964168..148572213 [GRCh38]
Chr1:146053414..147860552 [GRCh37]
Chr1:144764771..146327176 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000140902] Chr1:146964168..148572213 [GRCh38]
Chr1:145932455..147385641 [GRCh37]
Chr1:144643812..145852265 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145415190-148809863)x3 copy number gain See cases [RCV000140695] Chr1:145415190..148809863 [GRCh37]
Chr1:144126547..147076487 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 copy number loss See cases [RCV000140697] Chr1:144572470..149076087 [GRCh38]
Chr1:145415190..148809863 [GRCh37]
Chr1:144126547..147076487 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000141896] Chr1:146964168..148572213 [GRCh38]
Chr1:146101790..147830830 [GRCh37]
Chr1:144813147..146297454 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000141980] Chr1:146964168..148572213 [GRCh38]
Chr1:146043713..147844758 [GRCh37]
Chr1:144755070..146311382 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-148016122)x1 copy number loss See cases [RCV000141747] Chr1:146105170..148016122 [GRCh37]
Chr1:144816527..146482746 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000141560] Chr1:143515074..149076087 [GRCh38]
Chr1:145747242..149155026 [GRCh37]
Chr1:144458599..147421650 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 copy number loss See cases [RCV000141565] Chr1:144572470..149076087 [GRCh38]
Chr1:146500972..148809863 [GRCh37]
Chr1:144967596..147076487 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145888925-148020200)x1 copy number loss See cases [RCV000141688] Chr1:145888925..148020200 [GRCh37]
Chr1:144600282..146486824 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147036093-147909352)x1 copy number loss See cases [RCV000142425] Chr1:147036093..147909352 [GRCh38]
Chr1:146507649..147381479 [GRCh37]
Chr1:144974273..145848103 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000142480] Chr1:145215697..149076087 [GRCh38]
Chr1:146507649..148545664 [GRCh37]
Chr1:144974273..146812288 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x3 copy number gain See cases [RCV000142509] Chr1:146354110..148503773 [GRCh38]
Chr1:145425395..149699420 [GRCh37]
Chr1:144136752..147966044 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000142511] Chr1:145215697..149076087 [GRCh38]
Chr1:145655992..148545520 [GRCh37]
Chr1:144367349..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000142212] Chr1:146964168..148572213 [GRCh38]
Chr1:146096701..147832190 [GRCh37]
Chr1:144808058..146298814 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000142030] Chr1:146964168..148572213 [GRCh38]
Chr1:146101790..147897962 [GRCh37]
Chr1:144813147..146364586 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 copy number gain See cases [RCV000142100] Chr1:147031738..149087283 [GRCh38]
Chr1:146503291..147830830 [GRCh37]
Chr1:144969915..146297454 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147016574-149087283)x3 copy number gain See cases [RCV000142102] Chr1:147016574..149087283 [GRCh38]
Chr1:146488131..147995251 [GRCh37]
Chr1:144954755..146461875 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 copy number gain See cases [RCV000142150] Chr1:147031738..149087283 [GRCh38]
Chr1:146503291..147819294 [GRCh37]
Chr1:144969915..146285918 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.2(chr1:147773472-148355961)x3 copy number gain See cases [RCV000143021] Chr1:147773472..148355961 [GRCh38]
Chr1:147245576..147828089 [GRCh37]
Chr1:145712200..146294713 [NCBI36]
Chr1:1q21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147054748-148355961)x3 copy number gain See cases [RCV000142921] Chr1:147054748..148355961 [GRCh38]
Chr1:146526310..147828089 [GRCh37]
Chr1:144992934..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000142804] Chr1:145215697..149076087 [GRCh38]
Chr1:146526310..148535229 [GRCh37]
Chr1:144992934..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148355961)x1 copy number loss See cases [RCV000142561] Chr1:147029419..148355961 [GRCh38]
Chr1:146500972..147828089 [GRCh37]
Chr1:144967596..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000142666] Chr1:145215697..149076087 [GRCh38]
Chr1:146571304..148545520 [GRCh37]
Chr1:145037928..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000142798] Chr1:146987841..148355961 [GRCh38]
Chr1:145626237..147828089 [GRCh37]
Chr1:144337594..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147026741-149087283)x3 copy number gain See cases [RCV000143372] Chr1:147026741..149087283 [GRCh38]
Chr1:146498298..147828510 [GRCh37]
Chr1:144964922..146295134 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000143304] Chr1:146964168..148572213 [GRCh38]
Chr1:146145424..147929323 [GRCh37]
Chr1:144856781..146395947 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000143128] Chr1:146964168..148572213 [GRCh38]
Chr1:145886339..147926347 [GRCh37]
Chr1:144597696..146392971 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147099720-148436984)x3 copy number gain See cases [RCV000148082] Chr1:147099720..148436984 [GRCh38]
Chr1:146571304..147909094 [GRCh37]
Chr1:145037928..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 copy number gain See cases [RCV000143769] Chr1:147031738..149087283 [GRCh38]
Chr1:146503291..147819815 [GRCh37]
Chr1:144969915..146286439 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 copy number gain See cases [RCV000148050] Chr1:146987841..148436984 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000148051]|See cases [RCV000509064] Chr1:146987841..148436984 [GRCh38]
Chr1:145655992..147909094 [GRCh37]
Chr1:144367349..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000148052] Chr1:143515074..149076087 [GRCh38]
Chr1:145655992..149232481 [GRCh37]
Chr1:144367349..147499105 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 copy number gain See cases [RCV000148054] Chr1:146987841..148436984 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000143745] Chr1:146964168..148572213 [GRCh38]
Chr1:146105170..147929323 [GRCh37]
Chr1:144816527..146395947 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 copy number gain See cases [RCV000148055] Chr1:146987841..148436984 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000148057] Chr1:146987841..148436984 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146999330-149087283)x4 copy number gain See cases [RCV000143488] Chr1:146999330..149087283 [GRCh38]
Chr1:146470888..147830903 [GRCh37]
Chr1:144937512..146297527 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000143533] Chr1:146964168..148572213 [GRCh38]
Chr1:145895747..147831170 [GRCh37]
Chr1:144607104..146297794 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000143646] Chr1:146964168..148572213 [GRCh38]
Chr1:146043713..147830830 [GRCh37]
Chr1:144755070..146297454 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145885646-147978640)x3 copy number gain See cases [RCV000143585] Chr1:145885646..147978640 [GRCh37]
Chr1:144597003..146445264 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000143509] Chr1:146964168..148572213 [GRCh38]
Chr1:145932454..147819294 [GRCh37]
Chr1:144643811..146285918 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000143612] Chr1:146964168..148572213 [GRCh38]
Chr1:145888925..147926347 [GRCh37]
Chr1:144600282..146392971 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1 copy number loss See cases [RCV000137606] Chr1:146987841..148234205 [GRCh38]
Chr1:145415190..146474275 [GRCh37]
Chr1:144126547..144940899 [NCBI36]
Chr1:1q21.1
uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:147093177-148262736)x1 copy number loss See cases [RCV000148155] Chr1:147093177..148262736 [GRCh38]
Chr1:146564743..147735011 [GRCh37]
Chr1:145031367..146201635 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000148163] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000148176] Chr1:146987841..148436984 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000148183] Chr1:145215697..149076087 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1 copy number loss See cases [RCV000053734] Chr1:146987841..148234205 [GRCh38]
Chr1:145310254..146491118 [GRCh37]
Chr1:144021611..144957742 [NCBI36]
Chr1:1q21.1
pathogenic
NM_005267.5(GJA8):c.139G>C (p.Asp47His) single nucleotide variant not provided [RCV000393827] Chr1:147908094 [GRCh38]
Chr1:147380221 [GRCh37]
Chr1:1q21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147380935)x1 copy number loss See cases [RCV000239836] Chr1:146535353..147380935 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.58G>A (p.Val20Ile) single nucleotide variant Cataract 1 multiple types [RCV000303032]|Zonular Pulverulent Cataract [RCV000360114] Chr1:147908013 [GRCh38]
Chr1:147380140 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.385G>A (p.Val129Ile) single nucleotide variant Cataract 1 multiple types [RCV000276226]|Zonular Pulverulent Cataract [RCV000333662]|not provided [RCV003409433] Chr1:147908340 [GRCh38]
Chr1:147380467 [GRCh37]
Chr1:1q21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_005267.5(GJA8):c.1102G>C (p.Glu368Gln) single nucleotide variant Cataract 1 multiple types [RCV000355043]|Zonular Pulverulent Cataract [RCV000262293] Chr1:147909057 [GRCh38]
Chr1:147381184 [GRCh37]
Chr1:1q21.2
benign|likely benign
NM_005267.5(GJA8):c.1096G>A (p.Val366Met) single nucleotide variant Cataract 1 multiple types [RCV000297813]|Zonular Pulverulent Cataract [RCV000277824] Chr1:147909051 [GRCh38]
Chr1:147381178 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147844809)x1 copy number loss See cases [RCV000239831] Chr1:146535353..147844809 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147867793)x3 copy number gain See cases [RCV000239811] Chr1:146535353..147867793 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.134G>C (p.Trp45Ser) single nucleotide variant Cataract 1 multiple types [RCV000644439]|Developmental cataract [RCV000203313]|GJA8-related condition [RCV003897434] Chr1:147908089 [GRCh38]
Chr1:147380216 [GRCh37]
Chr1:1q21.2
pathogenic|likely pathogenic
NM_005267.5(GJA8):c.119C>T (p.Ala40Val) single nucleotide variant Developmental cataract [RCV000203331] Chr1:147908074 [GRCh38]
Chr1:147380201 [GRCh37]
Chr1:1q21.2
likely pathogenic
NM_005267.5(GJA8):c.89dup (p.Ile31fs) duplication Developmental cataract [RCV000203335] Chr1:147908040..147908041 [GRCh38]
Chr1:147380167..147380168 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.151G>A (p.Asp51Asn) single nucleotide variant Cataract 1 multiple types [RCV001781605]|Developmental cataract [RCV000203342]|acorea-microphthalmia-cataract syndrome [RCV003312994] Chr1:147908106 [GRCh38]
Chr1:147380233 [GRCh37]
Chr1:1q21.2
pathogenic|likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147877206)x3 copy number gain See cases [RCV000240235] Chr1:146535353..147877206 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225476] Chr1:146499479..147830375 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225655] Chr1:146089254..148004783 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
NM_005267.5(GJA8):c.994G>A (p.Glu332Lys) single nucleotide variant Cataract 1 multiple types [RCV000390140]|Zonular Pulverulent Cataract [RCV000347339] Chr1:147908949 [GRCh38]
Chr1:147381076 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.183C>T (p.Cys61=) single nucleotide variant Cataract 1 multiple types [RCV000401343]|Zonular Pulverulent Cataract [RCV000306664]|not provided [RCV003409432] Chr1:147908138 [GRCh38]
Chr1:147380265 [GRCh37]
Chr1:1q21.2
likely benign|uncertain significance
NM_005267.5(GJA8):c.1069A>G (p.Thr357Ala) single nucleotide variant Cataract 1 multiple types [RCV000370022]|Zonular Pulverulent Cataract [RCV000312296] Chr1:147909024 [GRCh38]
Chr1:147381151 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147824207)x1 copy number loss See cases [RCV000239854] Chr1:146535353..147824207 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.2(chr1:147111289-147482311)x3 copy number gain See cases [RCV000239904] Chr1:147111289..147482311 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146542843-147857135)x1 copy number loss See cases [RCV000239847] Chr1:146542843..147857135 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.678C>A (p.His226Gln) single nucleotide variant Cataract 1 multiple types [RCV000375189]|Zonular Pulverulent Cataract [RCV000318245]|not provided [RCV003409434] Chr1:147908633 [GRCh38]
Chr1:147380760 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.893A>G (p.Asn298Ser) single nucleotide variant Cataract 1 multiple types [RCV000397589]|Inborn genetic diseases [RCV002519383]|Zonular Pulverulent Cataract [RCV000308779] Chr1:147908848 [GRCh38]
Chr1:147380975 [GRCh37]
Chr1:1q21.2
benign|likely benign
GRCh37/hg19 1q21.1-21.2(chr1:143500223-149763815)x3 copy number gain See cases [RCV000240518] Chr1:143500223..149763815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.-33C>T single nucleotide variant Cataract 1 multiple types [RCV000280670]|Zonular Pulverulent Cataract [RCV000394279] Chr1:147902840 [GRCh38]
Chr1:147374966 [GRCh37]
Chr1:1q21.2
likely benign
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147857135)x1 copy number loss See cases [RCV000240361] Chr1:146535353..147857135 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.804C>T (p.Leu268=) single nucleotide variant Cataract 1 multiple types [RCV000378518]|Zonular Pulverulent Cataract [RCV000340488]|not provided [RCV000836677]|not specified [RCV000248949] Chr1:147908759 [GRCh38]
Chr1:147380886 [GRCh37]
Chr1:1q21.2
benign
NM_005267.5(GJA8):c.-24A>G single nucleotide variant Cataract 1 multiple types [RCV000337929]|Zonular Pulverulent Cataract [RCV000402318] Chr1:147902849 [GRCh38]
Chr1:147374975 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.285C>T (p.His95=) single nucleotide variant Cataract 1 multiple types [RCV000271687]|Zonular Pulverulent Cataract [RCV000363708] Chr1:147908240 [GRCh38]
Chr1:147380367 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146506310-147824207)x3 copy number gain not provided [RCV000488100] Chr1:146506310..147824207 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
NM_005267.4(GJA8):c.*26dup duplication Cataract 1 multiple types [RCV000339721]|Zonular Pulverulent Cataract [RCV000378022]|not provided [RCV001613252] Chr1:147909270..147909271 [GRCh38]
Chr1:147381397..147381398 [GRCh37]
Chr1:1q21.2
benign
NM_005267.5(GJA8):c.875T>C (p.Leu292Pro) single nucleotide variant Cataract 1 multiple types [RCV000343629]|Zonular Pulverulent Cataract [RCV000286355] Chr1:147908830 [GRCh38]
Chr1:147380957 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.300C>T (p.Val100=) single nucleotide variant Cataract 1 multiple types [RCV000367347]|Zonular Pulverulent Cataract [RCV000310371] Chr1:147908255 [GRCh38]
Chr1:147380382 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.*12dup duplication Cataract 1 multiple types [RCV000282315]|Zonular Pulverulent Cataract [RCV000372930] Chr1:147909266..147909267 [GRCh38]
Chr1:147381393..147381394 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.136G>A (p.Gly46Arg) single nucleotide variant Cataract 1 multiple types [RCV001362208]|Inborn genetic diseases [RCV000623250] Chr1:147908091 [GRCh38]
Chr1:147380218 [GRCh37]
Chr1:1q21.2
pathogenic|likely pathogenic|uncertain significance
NM_005267.5(GJA8):c.151G>T (p.Asp51Tyr) single nucleotide variant Inborn genetic diseases [RCV000623634] Chr1:147908106 [GRCh38]
Chr1:147380233 [GRCh37]
Chr1:1q21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146618988-147825678) copy number loss Chromosome 1q21.1 deletion syndrome [RCV000767660] Chr1:146618988..147825678 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146560564-147416122) copy number loss Chromosome 1q21.1 deletion syndrome [RCV000767693] Chr1:146560564..147416122 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
Single allele deletion Chromosome 1q21.1 deletion syndrome [RCV000414986] Chr1:146560564..147416122 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.553C>T (p.Arg185Trp) single nucleotide variant not provided [RCV001579694] Chr1:147908508 [GRCh38]
Chr1:147380635 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146105170-147830830)x3 copy number gain See cases [RCV000449268] Chr1:146105170..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-147897962)x1 copy number loss See cases [RCV000449106] Chr1:146105170..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146096700-147819294)x3 copy number gain See cases [RCV000446349] Chr1:146096700..147819294 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147819294)x3 copy number gain See cases [RCV000446850] Chr1:146043713..147819294 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144833672-148870387)x3 copy number gain See cases [RCV000447303] Chr1:144833672..148870387 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145886339-147897962)x1 copy number loss See cases [RCV000447310] Chr1:145886339..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147900955)x3 copy number gain See cases [RCV000446607] Chr1:146535353..147900955 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-147830830)x1 copy number loss not specified [RCV003986540] Chr1:146105170..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3 copy number gain See cases [RCV000447109] Chr1:143753740..151399970 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147867734)x3 copy number gain See cases [RCV000447215] Chr1:146535353..147867734 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-148016122)x1 copy number loss See cases [RCV000446501] Chr1:146105170..148016122 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.2(chr1:147140518-147509544)x3 copy number gain See cases [RCV000446513] Chr1:147140518..147509544 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147857078)x1 copy number loss See cases [RCV000446048] Chr1:146535353..147857078 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146016526-147830830)x3 copy number gain See cases [RCV000447628] Chr1:146016526..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145885645-147947839)x1 copy number loss See cases [RCV000446765] Chr1:145885645..147947839 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146496425-147929323)x3 copy number gain See cases [RCV000447186] Chr1:146496425..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147877162)x3 copy number gain See cases [RCV000447634] Chr1:146535353..147877162 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147856007)x1 copy number loss See cases [RCV000445872] Chr1:145895746..147856007 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147897962)x1 copy number loss See cases [RCV000445777] Chr1:145895746..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146498198-147926347)x3 copy number gain See cases [RCV000448794] Chr1:146498198..147926347 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146127815-147844758)x1 copy number loss See cases [RCV000448648] Chr1:146127815..147844758 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146507518-147441040)x3 copy number gain See cases [RCV000448731] Chr1:146507518..147441040 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147897962)x1 copy number loss See cases [RCV000448739] Chr1:146043713..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146101790-147830830)x1 copy number loss See cases [RCV000448963] Chr1:146101790..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146106723-147830830)x3 copy number gain See cases [RCV000448239] Chr1:146106723..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145885646-147844758)x3 copy number gain See cases [RCV000512098] Chr1:145885646..147844758 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146096700-147830830)x3 copy number gain See cases [RCV000512072] Chr1:146096700..147830830 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146096701-147898062)x1 copy number loss See cases [RCV000510373] Chr1:146096701..147898062 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146496382-147409820)x3 copy number gain See cases [RCV000510399] Chr1:146496382..147409820 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-148513854)x1 copy number loss See cases [RCV000510528] Chr1:146105170..148513854 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146347096-147824207)x1 copy number loss not provided [RCV000509202] Chr1:146347096..147824207 [GRCh37]
Chr1:1q21.1-21.2
not provided
GRCh37/hg19 1q21.1-21.2(chr1:146507518-147824207)x1 copy number loss not provided [RCV000509261] Chr1:146507518..147824207 [GRCh37]
Chr1:1q21.1-21.2
not provided
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147929323)x1 copy number loss See cases [RCV000510416] Chr1:146043713..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145808308-147929323)x3 copy number gain See cases [RCV000510318] Chr1:145808308..147929323 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145885646-147947839)x3 copy number gain See cases [RCV000510580] Chr1:145885646..147947839 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-147897962)x1 copy number loss See cases [RCV000511960] Chr1:146105170..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144368497-148636756)x1 copy number loss See cases [RCV000511406] Chr1:144368497..148636756 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.827C>T (p.Ser276Phe) single nucleotide variant Cataract 1 multiple types [RCV000490724] Chr1:147908782 [GRCh38]
Chr1:147380909 [GRCh37]
Chr1:1q21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146496381-147819294)x3 copy number gain See cases [RCV000511887] Chr1:146496381..147819294 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-148893164)x3 copy number gain See cases [RCV000511678] Chr1:145895746..148893164 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
NM_005267.5(GJA8):c.484G>A (p.Glu162Lys) single nucleotide variant Developmental cataract [RCV000490764] Chr1:147908439 [GRCh38]
Chr1:147380566 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.73T>C (p.Trp25Arg) single nucleotide variant Developmental cataract [RCV000490786] Chr1:147908028 [GRCh38]
Chr1:147380155 [GRCh37]
Chr1:1q21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144371838-148832359)x1 copy number loss See cases [RCV000511474] Chr1:144371838..148832359 [GRCh37]
Chr1:1q21.1-21.2
pathogenic|uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147897962)x1 copy number loss See cases [RCV000511760] Chr1:146043713..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146101790-148020200)x1 copy number loss See cases [RCV000511019] Chr1:146101790..148020200 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144880315-148832359)x1 copy number loss See cases [RCV000511224] Chr1:144880315..148832359 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146498298-147819294)x3 copy number gain See cases [RCV000511122] Chr1:146498298..147819294 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic|uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146496425-147814497)x3 copy number gain See cases [RCV000510814] Chr1:146496425..147814497 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145927662-147830830)x4 copy number gain See cases [RCV000511031] Chr1:145927662..147830830 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146003044-147832190)x3 copy number gain See cases [RCV000510735] Chr1:146003044..147832190 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146023923-147929323)x1 copy number loss See cases [RCV000510977] Chr1:146023923..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143932350-149801420)x3 copy number gain See cases [RCV000511264] Chr1:143932350..149801420 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146470888-147830903)x3 copy number gain See cases [RCV000510918] Chr1:146470888..147830903 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_005267.5(GJA8):c.35A>G (p.Glu12Gly) single nucleotide variant Inborn genetic diseases [RCV003257672] Chr1:147907990 [GRCh38]
Chr1:147380117 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.146A>G (p.Gln49Arg) single nucleotide variant not provided [RCV003327936] Chr1:147908101 [GRCh38]
Chr1:147380228 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.1004G>A (p.Gly335Glu) single nucleotide variant Inborn genetic diseases [RCV003285485] Chr1:147908959 [GRCh38]
Chr1:147381086 [GRCh37]
Chr1:1q21.2
likely benign
GRCh37/hg19 1q21.1-21.2(chr1:146488131-147398560)x3 copy number gain See cases [RCV000512214] Chr1:146488131..147398560 [GRCh37]
Chr1:1q21.1-21.2
pathogenic|uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147995251)x3 copy number gain See cases [RCV000512287] Chr1:145895746..147995251 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145808308-147926347)x3 copy number gain See cases [RCV000512412] Chr1:145808308..147926347 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-148020200)x1 copy number loss See cases [RCV000512350] Chr1:146105170..148020200 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.101T>C (p.Ile34Thr) single nucleotide variant Cataract 1 multiple types [RCV003485938] Chr1:147908056 [GRCh38]
Chr1:147380183 [GRCh37]
Chr1:1q21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144549794-147978640)x3 copy number gain not provided [RCV000684622] Chr1:144549794..147978640 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144842544-148832359)x1 copy number loss not provided [RCV000684624] Chr1:144842544..148832359 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144884331-148514236)x1 copy number loss not provided [RCV000684625] Chr1:144884331..148514236 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145068491-147929323)x1 copy number loss not provided [RCV000684626] Chr1:145068491..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145376052-147819815)x3 copy number gain not provided [RCV000684628] Chr1:145376052..147819815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145733443-147929323)x1 copy number loss not provided [RCV000684633] Chr1:145733443..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145764393-147830830)x1 copy number loss not provided [RCV000684634] Chr1:145764393..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145769108-147929323)x1 copy number loss not provided [RCV000684635] Chr1:145769108..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145770625-148514899)x1 copy number loss not provided [RCV000684636] Chr1:145770625..148514899 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145770679-147926347)x1 copy number loss not provided [RCV000684637] Chr1:145770679..147926347 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145770679-148519140)x1 copy number loss not provided [RCV000684638] Chr1:145770679..148519140 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145784611-148519963)x1 copy number loss not provided [RCV000684639] Chr1:145784611..148519963 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145786289-147830830)x1 copy number loss not provided [RCV000684640] Chr1:145786289..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145786360-148514899)x1 copy number loss not provided [RCV000684641] Chr1:145786360..148514899 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145792037-147929323)x1 copy number loss not provided [RCV000684642] Chr1:145792037..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145792051-148846369)x1 copy number loss not provided [RCV000684643] Chr1:145792051..148846369 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147897962)x1 copy number loss not provided [RCV000684644] Chr1:145895746..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147926347)x1 copy number loss not provided [RCV000684645] Chr1:145895746..147926347 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146030328-147897962)x1 copy number loss not provided [RCV000684646] Chr1:146030328..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147898062)x1 copy number loss not provided [RCV000684647] Chr1:146043713..147898062 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146117290-147897962)x1 copy number loss not provided [RCV000684648] Chr1:146117290..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146145424-147830830)x1 copy number loss not provided [RCV000684649] Chr1:146145424..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146470887-147845170)x1 copy number loss not provided [RCV000684650] Chr1:146470887..147845170 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146470887-148020200)x1 copy number loss not provided [RCV000684651] Chr1:146470887..148020200 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146483912-147828510)x1 copy number loss not provided [RCV000684652] Chr1:146483912..147828510 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146505911-147829213)x1 copy number loss not provided [RCV000684653] Chr1:146505911..147829213 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.67A>G (p.Arg23Gly) single nucleotide variant Cataract 1 multiple types [RCV000689477] Chr1:147908022 [GRCh38]
Chr1:147380149 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.153C>G (p.Asp51Glu) single nucleotide variant Cataract 1 multiple types [RCV000696271] Chr1:147908108 [GRCh38]
Chr1:147380235 [GRCh37]
Chr1:1q21.2
pathogenic|uncertain significance
NM_005267.5(GJA8):c.481T>G (p.Phe161Val) single nucleotide variant Cataract 1 multiple types [RCV000689511] Chr1:147908436 [GRCh38]
Chr1:147380563 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NC_000001.11:g.(?_145430995)_(148257619_?)del deletion Schizophrenia [RCV000754126] Chr1:145430995..148257619 [GRCh38]
Chr1:1q21.1-21.2
pathogenic
NC_000001.11:g.(?_145430995)_(148427734_?)del deletion Schizophrenia [RCV000754127] Chr1:145430995..148427734 [GRCh38]
Chr1:1q21.1-21.2
pathogenic
NC_000001.11:g.(?_145580669)_(149095000_?)del deletion Schizophrenia [RCV000754128] Chr1:145580669..149095000 [GRCh38]
Chr1:1q21.1-21.2
pathogenic
Single allele duplication Schizophrenia [RCV000754132] Chr1:145601945..148889374 [GRCh38]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146087074-148209414)x3 copy number gain not provided [RCV000736678] Chr1:146087074..148209414 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146087074-148250606)x3 copy number gain not provided [RCV000736679] Chr1:146087074..148250606 [GRCh37]
Chr1:1q21.1-21.2
benign
GRCh37/hg19 1q21.1-21.2(chr1:146089254-147391614)x1 copy number loss not provided [RCV000736680] Chr1:146089254..147391614 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146089254-147911246)x1 copy number loss not provided [RCV000736681] Chr1:146089254..147911246 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146089268-147826789)x3 copy number gain not provided [RCV000736682] Chr1:146089268..147826789 [GRCh37]
Chr1:1q21.1-21.2
benign
GRCh37/hg19 1q21.1-21.2(chr1:146089268-147826789)x1 copy number loss not provided [RCV000736683] Chr1:146089268..147826789 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146089268-149376652)x1 copy number loss not provided [RCV000736684] Chr1:146089268..149376652 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146501348-147393410)x1 copy number loss not provided [RCV000736685] Chr1:146501348..147393410 [GRCh37]
Chr1:1q21.1-21.2
benign
GRCh37/hg19 1q21.1-21.2(chr1:146501348-147826789)x3 copy number gain not provided [RCV000736686] Chr1:146501348..147826789 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146506206-147928995)x3 copy number gain not provided [RCV000749173] Chr1:146506206..147928995 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145395440-148242053)x3 copy number gain not provided [RCV000749164] Chr1:145395440..148242053 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146501348-147843733)x1 copy number loss not provided [RCV000749171] Chr1:146501348..147843733 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146506206-147531377)x3 copy number gain not provided [RCV000749172] Chr1:146506206..147531377 [GRCh37]
Chr1:1q21.1-21.2
benign
NM_005267.5(GJA8):c.-11-330A>G single nucleotide variant not provided [RCV001678835] Chr1:147907615 [GRCh38]
Chr1:147379742 [GRCh37]
Chr1:1q21.2
benign
NM_005267.5(GJA8):c.-11-48G>T single nucleotide variant not provided [RCV001679064] Chr1:147907897 [GRCh38]
Chr1:147380024 [GRCh37]
Chr1:1q21.2
benign
NC_000001.11:g.147909431= single nucleotide variant not provided [RCV001611747] Chr1:147909431 [GRCh38]
Chr1:147381558 [GRCh37]
Chr1:1q21.2
benign
NC_000001.10:g.(?_147380063)_(147381404_?)del deletion Cataract 1 multiple types [RCV001033816] Chr1:147380063..147381404 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.176C>T (p.Pro59Leu) single nucleotide variant Cataract 1 multiple types [RCV001044428] Chr1:147908131 [GRCh38]
Chr1:147380258 [GRCh37]
Chr1:1q21.2
pathogenic|uncertain significance
NM_005267.5(GJA8):c.1126G>A (p.Gly376Arg) single nucleotide variant Cataract 1 multiple types [RCV001045156] Chr1:147909081 [GRCh38]
Chr1:147381208 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144842544-147832190)x1 copy number loss not provided [RCV001005133] Chr1:144842544..147832190 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145804679-147735815)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000856632] Chr1:145804679..147735815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145015937-147416122) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767544] Chr1:145015937..147416122 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145740598-147825678) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767826] Chr1:145740598..147825678 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.741T>A (p.Ile247=) single nucleotide variant not provided [RCV000871778] Chr1:147908696 [GRCh38]
Chr1:147380823 [GRCh37]
Chr1:1q21.2
likely benign
GRCh37/hg19 1q21.1-21.2(chr1:145792051-148001265) copy number gain Hypoplastic left heart syndrome 1 [RCV002280613] Chr1:145792051..148001265 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146521698-147721869)x1 copy number loss Chromosome 1q21.1 deletion syndrome [RCV000856631] Chr1:146521698..147721869 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.839C>T (p.Pro280Leu) single nucleotide variant Cataract 1 multiple types [RCV000821180] Chr1:147908794 [GRCh38]
Chr1:147380921 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.196T>C (p.Tyr66His) single nucleotide variant Cataract 1 multiple types [RCV000812056] Chr1:147908151 [GRCh38]
Chr1:147380278 [GRCh37]
Chr1:1q21.2
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144823069-148839976)x3 copy number gain not provided [RCV000848311] Chr1:144823069..148839976 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787409] Chr1:146474245..147858400 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
NM_005267.5(GJA8):c.262C>G (p.Pro88Ala) single nucleotide variant Cataract 1 multiple types [RCV000805199]|not provided [RCV003886442] Chr1:147908217 [GRCh38]
Chr1:147380344 [GRCh37]
Chr1:1q21.2
pathogenic|likely pathogenic|uncertain significance
NM_005267.5(GJA8):c.1296C>T (p.Thr432=) single nucleotide variant Cataract 1 multiple types [RCV001098775] Chr1:147909251 [GRCh38]
Chr1:147381378 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.317G>A (p.Arg106His) single nucleotide variant Cataract 1 multiple types [RCV000812014] Chr1:147908272 [GRCh38]
Chr1:147380399 [GRCh37]
Chr1:1q21.2
uncertain significance
Single allele deletion Chromosome 1q21.1 deletion syndrome [RCV000844901] Chr1:145723417..147897962 [GRCh37]
Chr1:1q21.1-21.2
not provided
NM_005267.5(GJA8):c.1105G>T (p.Gly369Trp) single nucleotide variant Cataract 1 multiple types [RCV001097043] Chr1:147909060 [GRCh38]
Chr1:147381187 [GRCh37]
Chr1:1q21.2
benign
GRCh37/hg19 1q21.1-21.2(chr1:145053968-148823133)x3 copy number gain not provided [RCV001005135] Chr1:145053968..148823133 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.-43A>G single nucleotide variant Cataract 1 multiple types [RCV001098686] Chr1:147902830 [GRCh38]
Chr1:147374956 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:143940435-147845170)x4 copy number gain not provided [RCV000849214] Chr1:143940435..147845170 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143940435-147823872)x3 copy number gain not provided [RCV001005132] Chr1:143940435..147823872 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.281G>A (p.Gly94Glu) single nucleotide variant Anterior segment dysgenesis [RCV001200023]|not provided [RCV001751365] Chr1:147908236 [GRCh38]
Chr1:147380363 [GRCh37]
Chr1:1q21.2
pathogenic|likely pathogenic
NM_005267.5(GJA8):c.201C>G (p.Asp67Glu) single nucleotide variant Cataract 1 multiple types [RCV001224560] Chr1:147908156 [GRCh38]
Chr1:147380283 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.1157C>T (p.Pro386Leu) single nucleotide variant Cataract 1 multiple types [RCV001097044] Chr1:147909112 [GRCh38]
Chr1:147381239 [GRCh37]
Chr1:1q21.2
benign
NC_000001.11:g.147909283del deletion not provided [RCV001715742] Chr1:147909271 [GRCh38]
Chr1:147381398 [GRCh37]
Chr1:1q21.2
benign
NM_005267.5(GJA8):c.1248G>T (p.Leu416=) single nucleotide variant Cataract 1 multiple types [RCV000872662] Chr1:147909203 [GRCh38]
Chr1:147381330 [GRCh37]
Chr1:1q21.2
benign
NM_005267.5(GJA8):c.19C>A (p.Leu7Met) single nucleotide variant Cataract 1 multiple types [RCV000952233]|GJA8-related condition [RCV003943050] Chr1:147907974 [GRCh38]
Chr1:147380101 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.933C>T (p.Asp311=) single nucleotide variant Cataract 1 multiple types [RCV000930418] Chr1:147908888 [GRCh38]
Chr1:147381015 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.477C>T (p.Thr159=) single nucleotide variant Cataract 1 multiple types [RCV002066249] Chr1:147908432 [GRCh38]
Chr1:147380559 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.1104G>A (p.Glu368=) single nucleotide variant not provided [RCV000951990] Chr1:147909059 [GRCh38]
Chr1:147381186 [GRCh37]
Chr1:1q21.2
benign
NM_005267.5(GJA8):c.-11-4T>G single nucleotide variant Cataract 1 multiple types [RCV001100491] Chr1:147907941 [GRCh38]
Chr1:147380068 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.280G>C (p.Gly94Arg) single nucleotide variant Anterior segment dysgenesis [RCV001200028] Chr1:147908235 [GRCh38]
Chr1:147380362 [GRCh37]
Chr1:1q21.2
likely pathogenic
NM_005267.5(GJA8):c.602A>G (p.Glu201Gly) single nucleotide variant Cataract 1 multiple types [RCV001068183] Chr1:147908557 [GRCh38]
Chr1:147380684 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.197A>G (p.Tyr66Cys) single nucleotide variant Cataract 1 multiple types [RCV001207827] Chr1:147908152 [GRCh38]
Chr1:147380279 [GRCh37]
Chr1:1q21.2
pathogenic|uncertain significance
NM_005267.5(GJA8):c.665T>C (p.Met222Thr) single nucleotide variant Cataract 1 multiple types [RCV001102446] Chr1:147908620 [GRCh38]
Chr1:147380747 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.197A>C (p.Tyr66Ser) single nucleotide variant Cataract 1 multiple types [RCV001055109] Chr1:147908152 [GRCh38]
Chr1:147380279 [GRCh37]
Chr1:1q21.2
likely pathogenic|uncertain significance
NM_005267.5(GJA8):c.1016A>T (p.Glu339Val) single nucleotide variant Cataract 1 multiple types [RCV001063645] Chr1:147908971 [GRCh38]
Chr1:147381098 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144884331-148665189)x1 copy number loss not provided [RCV001005134] Chr1:144884331..148665189 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.619C>T (p.Leu207=) single nucleotide variant not provided [RCV000935066] Chr1:147908574 [GRCh38]
Chr1:147380701 [GRCh37]
Chr1:1q21.2
likely benign
GRCh37/hg19 1q21.1-21.2(chr1:146493131-147831043)x1 copy number loss not provided [RCV002468431] Chr1:146493131..147831043 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146498299-147393336)x3 copy number gain not provided [RCV002473794] Chr1:146498299..147393336 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.-11-131A>G single nucleotide variant not provided [RCV001678245] Chr1:147907814 [GRCh38]
Chr1:147379941 [GRCh37]
Chr1:1q21.2
benign
NM_005267.5(GJA8):c.670T>C (p.Leu224=) single nucleotide variant Cataract 1 multiple types [RCV001102447] Chr1:147908625 [GRCh38]
Chr1:147380752 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.411C>A (p.Gly137=) single nucleotide variant Cataract 1 multiple types [RCV001100493] Chr1:147908366 [GRCh38]
Chr1:147380493 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.439C>T (p.Leu147=) single nucleotide variant Cataract 1 multiple types [RCV001100494] Chr1:147908394 [GRCh38]
Chr1:147380521 [GRCh37]
Chr1:1q21.2
benign|likely benign
NC_000001.11:g.147909317= single nucleotide variant not provided [RCV001696172] Chr1:147909317 [GRCh38]
Chr1:147381444 [GRCh37]
Chr1:1q21.2
benign
NM_005267.5(GJA8):c.134G>T (p.Trp45Leu) single nucleotide variant Cataract 1 multiple types [RCV001049034] Chr1:147908089 [GRCh38]
Chr1:147380216 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.1045A>G (p.Lys349Glu) single nucleotide variant Cataract 1 multiple types [RCV001097042] Chr1:147909000 [GRCh38]
Chr1:147381127 [GRCh37]
Chr1:1q21.2
benign
NM_005267.5(GJA8):c.1027G>A (p.Glu343Lys) single nucleotide variant Cataract 1 multiple types [RCV001097041] Chr1:147908982 [GRCh38]
Chr1:147381109 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.1033G>A (p.Glu345Lys) single nucleotide variant Chromosome 1q21.1 deletion syndrome [RCV001198872] Chr1:147908988 [GRCh38]
Chr1:147381115 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146501348-147825548)x3 copy number gain See cases [RCV001007413] Chr1:146501348..147825548 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.1163C>T (p.Ser388Leu) single nucleotide variant Cataract 1 multiple types [RCV001098773] Chr1:147909118 [GRCh38]
Chr1:147381245 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.1274G>C (p.Arg425Pro) single nucleotide variant Cataract 1 multiple types [RCV001098774] Chr1:147909229 [GRCh38]
Chr1:147381356 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.829C>T (p.His277Tyr) single nucleotide variant not provided [RCV001092898] Chr1:147908784 [GRCh38]
Chr1:147380911 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.356G>A (p.Gly119Glu) single nucleotide variant Cataract 1 multiple types [RCV001100492] Chr1:147908311 [GRCh38]
Chr1:147380438 [GRCh37]
Chr1:1q21.2
benign
NM_005267.5(GJA8):c.145_146insCTC (p.Glu48_Gln49insPro) insertion Cataract 1 multiple types [RCV001253057] Chr1:147908099..147908100 [GRCh38]
Chr1:147380226..147380227 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.565C>T (p.Pro189Ser) single nucleotide variant Developmental cataract [RCV001775014]|not provided [RCV001581110] Chr1:147908520 [GRCh38]
Chr1:147380647 [GRCh37]
Chr1:1q21.2
likely pathogenic|uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146112080-147819815)x3 copy number gain not provided [RCV001260120] Chr1:146112080..147819815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146112080-147399145)x3 copy number gain not provided [RCV001260121] Chr1:146112080..147399145 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.1159C>T (p.Gln387Ter) single nucleotide variant Cataract 1 [RCV001334378] Chr1:147909114 [GRCh38]
Chr1:147381241 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.1300T>C (p.Ter434Arg) single nucleotide variant Cataract 1 [RCV001334379] Chr1:147909255 [GRCh38]
Chr1:147381382 [GRCh37]
Chr1:1q21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145818702-147824207) copy number gain Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001291962] Chr1:145818702..147824207 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144887445-148801960)x1 copy number loss not provided [RCV001260118] Chr1:144887445..148801960 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146498298-147401392)x3 copy number gain not provided [RCV001260119] Chr1:146498298..147401392 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146496425-147819815)x3 copy number gain not provided [RCV001260122] Chr1:146496425..147819815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146096700-147929323)x1 copy number loss not provided [RCV001260123] Chr1:146096700..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144849457-147819815)x3 copy number gain not provided [RCV001260124] Chr1:144849457..147819815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146500000-149500001)x3 copy number gain See cases [RCV001264401] Chr1:146500000..149500001 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146500972-147851297) copy number loss Aicardi syndrome [RCV001291972] Chr1:146500972..147851297 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.560C>T (p.Pro187Leu) single nucleotide variant Cataract 1 multiple types [RCV001372327] Chr1:147908515 [GRCh38]
Chr1:147380642 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145818702-149378266) copy number gain Delayed speech and language development [RCV001291985] Chr1:145818702..149378266 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.259A>G (p.Thr87Ala) single nucleotide variant not provided [RCV001355401] Chr1:147908214 [GRCh38]
Chr1:147380341 [GRCh37]
Chr1:1q21.2
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_005267.5(GJA8):c.595C>T (p.Pro199Ser) single nucleotide variant Cataract 1 multiple types [RCV001304770] Chr1:147908550 [GRCh38]
Chr1:147380677 [GRCh37]
Chr1:1q21.2
pathogenic|uncertain significance
NM_005267.5(GJA8):c.1297G>C (p.Val433Leu) single nucleotide variant Cataract 1 multiple types [RCV001309598] Chr1:147909252 [GRCh38]
Chr1:147381379 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.530T>A (p.Ile177Asn) single nucleotide variant not provided [RCV001358649] Chr1:147908485 [GRCh38]
Chr1:147380612 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.270G>C (p.Leu90=) single nucleotide variant Cataract 1 multiple types [RCV001463124] Chr1:147908225 [GRCh38]
Chr1:147380352 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.1272C>T (p.Ser424=) single nucleotide variant Cataract 1 multiple types [RCV001482544] Chr1:147909227 [GRCh38]
Chr1:147381354 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.64G>A (p.Gly22Ser) single nucleotide variant Developmental cataract [RCV001775015] Chr1:147908019 [GRCh38]
Chr1:147380146 [GRCh37]
Chr1:1q21.2
uncertain significance
NC_000001.11:g.145601946_148597425del deletion Radial aplasia-thrombocytopenia syndrome [RCV000853559] Chr1:145601946..148597425 [GRCh38]
Chr1:1q21.1-21.2
likely pathogenic
NM_005267.5(GJA8):c.471C>G (p.Phe157Leu) single nucleotide variant not provided [RCV001774909] Chr1:147908426 [GRCh38]
Chr1:147380553 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.389AGA[1] (p.Lys131del) microsatellite Developmental cataract [RCV001775016] Chr1:147908343..147908345 [GRCh38]
Chr1:147380470..147380472 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.1145A>G (p.Glu382Gly) single nucleotide variant not provided [RCV001774927] Chr1:147909100 [GRCh38]
Chr1:147381227 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.862G>A (p.Glu288Lys) single nucleotide variant not provided [RCV001774928] Chr1:147908817 [GRCh38]
Chr1:147380944 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.184G>A (p.Glu62Lys) single nucleotide variant Cataract 1 multiple types [RCV001808872] Chr1:147908139 [GRCh38]
Chr1:147380266 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146022474-147599371)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV001801176] Chr1:146022474..147599371 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.227G>A (p.Arg76His) single nucleotide variant not provided [RCV001795785] Chr1:147908182 [GRCh38]
Chr1:147380309 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.200A>G (p.Asp67Gly) single nucleotide variant Cataract 1 multiple types [RCV001908834] Chr1:147908155 [GRCh38]
Chr1:147380282 [GRCh37]
Chr1:1q21.2
likely pathogenic|uncertain significance
NM_005267.5(GJA8):c.353C>T (p.Ala118Val) single nucleotide variant Cataract 1 multiple types [RCV001983556] Chr1:147908308 [GRCh38]
Chr1:147380435 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146043714-148514899)x1 copy number loss not provided [RCV001827839] Chr1:146043714..148514899 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.2(chr1:147193821-147399684)x3 copy number gain not provided [RCV001832877] Chr1:147193821..147399684 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.242A>G (p.Gln81Arg) single nucleotide variant Cataract 1 multiple types [RCV001983814] Chr1:147908197 [GRCh38]
Chr1:147380324 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146101790-147831000) copy number loss Chromosome 1q21.1 deletion syndrome [RCV002280718] Chr1:146101790..147831000 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145768022-148020154) copy number gain Chromosome 1q21.1 duplication syndrome [RCV002280721] Chr1:145768022..148020154 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145808308-147819294) copy number gain Chromosome 1q21.1 duplication syndrome [RCV002280722] Chr1:145808308..147819294 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147830830) copy number gain Chromosome 1q21.1 duplication syndrome [RCV002280723] Chr1:146043713..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.143A>G (p.Glu48Gly) single nucleotide variant Cataract 1 multiple types [RCV002005986] Chr1:147908098 [GRCh38]
Chr1:147380225 [GRCh37]
Chr1:1q21.2
pathogenic|likely pathogenic|uncertain significance
NM_005267.5(GJA8):c.499G>T (p.Val167Leu) single nucleotide variant Cataract 1 multiple types [RCV001882013] Chr1:147908454 [GRCh38]
Chr1:147380581 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.226C>T (p.Arg76Cys) single nucleotide variant Cataract 1 multiple types [RCV001941871] Chr1:147908181 [GRCh38]
Chr1:147380308 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.473A>G (p.Lys158Arg) single nucleotide variant Cataract 1 multiple types [RCV002014390]|not provided [RCV002473350] Chr1:147908428 [GRCh38]
Chr1:147380555 [GRCh37]
Chr1:1q21.2
uncertain significance
NC_000001.10:g.(?_146714354)_(147381384_?)dup duplication Cataract 1 multiple types [RCV001936874] Chr1:146714354..147381384 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
NM_005267.5(GJA8):c.668A>G (p.Glu223Gly) single nucleotide variant Cataract 1 multiple types [RCV001898301] Chr1:147908623 [GRCh38]
Chr1:147380750 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.135G>T (p.Trp45Cys) single nucleotide variant Cataract 1 multiple types [RCV001940220] Chr1:147908090 [GRCh38]
Chr1:147380217 [GRCh37]
Chr1:1q21.2
pathogenic|uncertain significance
NM_005267.5(GJA8):c.1288G>A (p.Asp430Asn) single nucleotide variant Cataract 1 multiple types [RCV001918888] Chr1:147909243 [GRCh38]
Chr1:147381370 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.718del (p.Pro239_Val240insTer) deletion not specified [RCV002247861] Chr1:147908673 [GRCh38]
Chr1:147380800 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.263C>A (p.Pro88Gln) single nucleotide variant Cataract 1 multiple types [RCV002246207] Chr1:147908218 [GRCh38]
Chr1:147380345 [GRCh37]
Chr1:1q21.2
likely pathogenic
Single allele duplication Chromosome 1q21.1 duplication syndrome [RCV002227717] Chr1:147050137..148438699 [GRCh38]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.264G>C (p.Pro88=) single nucleotide variant Cataract 1 multiple types [RCV002162248] Chr1:147908219 [GRCh38]
Chr1:147380346 [GRCh37]
Chr1:1q21.2
likely benign
NC_000001.10:g.(?_146714354)_(147381384_?)del deletion Cataract 1 multiple types [RCV003116346] Chr1:146714354..147381384 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.263C>T (p.Pro88Leu) single nucleotide variant Cataract 1 multiple types [RCV002246206] Chr1:147908218 [GRCh38]
Chr1:147380345 [GRCh37]
Chr1:1q21.2
pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 1q21.1-21.2(chr1:146465878-147416212) copy number gain Chromosome 1q21.1 duplication syndrome [RCV003236709] Chr1:146465878..147416212 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146101790-147832190) copy number loss Chromosome 1q21.1 deletion syndrome [RCV002280720] Chr1:146101790..147832190 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145157447-148016122)x1 copy number loss See cases [RCV002287572] Chr1:145157447..148016122 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146626685-147597284)x1 copy number loss not provided [RCV002292765] Chr1:146626685..147597284 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.189C>G (p.Asn63Lys) single nucleotide variant Cataract 1 multiple types [RCV002289057] Chr1:147908144 [GRCh38]
Chr1:147380271 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146105170-147830830)x1 copy number loss See cases [RCV002287560] Chr1:146105170..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.175C>T (p.Pro59Ser) single nucleotide variant Microphthalmia [RCV002291344] Chr1:147908130 [GRCh38]
Chr1:147380257 [GRCh37]
Chr1:1q21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146145424-147929323) copy number loss Chromosome 1q21.1 deletion syndrome [RCV002280719] Chr1:146145424..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.130G>A (p.Val44Met) single nucleotide variant Cataract 1 multiple types [RCV003096328]|not provided [RCV002281408] Chr1:147908085 [GRCh38]
Chr1:147380212 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.116C>A (p.Thr39Lys) single nucleotide variant Cataract 1 multiple types [RCV003152913]|not provided [RCV003456574] Chr1:147908071 [GRCh38]
Chr1:147380198 [GRCh37]
Chr1:1q21.2
likely pathogenic|uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145074728-148832359)x1 copy number loss not provided [RCV002474588] Chr1:145074728..148832359 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895747-147962980)x1 copy number loss not provided [RCV002473948] Chr1:145895747..147962980 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145770680-147929323)x1 copy number loss not provided [RCV002474558] Chr1:145770680..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145768023-147929323)x1 copy number loss not provided [RCV002474575] Chr1:145768023..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.71T>A (p.Val24Asp) single nucleotide variant not provided [RCV002461828] Chr1:147908026 [GRCh38]
Chr1:147380153 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145365287-147416212)x1 copy number loss not provided [RCV002511625] Chr1:145365287..147416212 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.358A>G (p.Thr120Ala) single nucleotide variant Inborn genetic diseases [RCV002752175] Chr1:147908313 [GRCh38]
Chr1:147380440 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.925C>A (p.Leu309Met) single nucleotide variant Inborn genetic diseases [RCV002989970] Chr1:147908880 [GRCh38]
Chr1:147381007 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146542843-147857135)x1 copy number loss Chromosome 1q21.1 deletion syndrome [RCV002509026] Chr1:146542843..147857135 [GRCh37]
Chr1:1q21.1-21.2
not provided
NM_005267.5(GJA8):c.269T>A (p.Leu90Gln) single nucleotide variant Cataract 1 multiple types [RCV003055690] Chr1:147908224 [GRCh38]
Chr1:147380351 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.756C>T (p.Leu252=) single nucleotide variant Cataract 1 multiple types [RCV002909290] Chr1:147908711 [GRCh38]
Chr1:147380838 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.380G>A (p.Gly127Asp) single nucleotide variant Inborn genetic diseases [RCV002737192] Chr1:147908335 [GRCh38]
Chr1:147380462 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.148T>C (p.Ser50Pro) single nucleotide variant Cataract 1 multiple types [RCV002796061] Chr1:147908103 [GRCh38]
Chr1:147380230 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.1120A>C (p.Thr374Pro) single nucleotide variant Inborn genetic diseases [RCV002662173] Chr1:147909075 [GRCh38]
Chr1:147381202 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.614T>C (p.Phe205Ser) single nucleotide variant Cataract 1 multiple types [RCV003054373] Chr1:147908569 [GRCh38]
Chr1:147380696 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.554G>A (p.Arg185Gln) single nucleotide variant Inborn genetic diseases [RCV002884859] Chr1:147908509 [GRCh38]
Chr1:147380636 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.94T>G (p.Phe32Val) single nucleotide variant Cataract 1 multiple types [RCV002848319] Chr1:147908049 [GRCh38]
Chr1:147380176 [GRCh37]
Chr1:1q21.2
pathogenic|uncertain significance
NM_005267.5(GJA8):c.691G>A (p.Gly231Arg) single nucleotide variant Inborn genetic diseases [RCV002845143] Chr1:147908646 [GRCh38]
Chr1:147380773 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.40G>C (p.Val14Leu) single nucleotide variant Inborn genetic diseases [RCV002783638] Chr1:147907995 [GRCh38]
Chr1:147380122 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.1108G>A (p.Glu370Lys) single nucleotide variant Inborn genetic diseases [RCV002789361] Chr1:147909063 [GRCh38]
Chr1:147381190 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.22G>A (p.Gly8Arg) single nucleotide variant Cataract 1 multiple types [RCV003619817]|Inborn genetic diseases [RCV002956000] Chr1:147907977 [GRCh38]
Chr1:147380104 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.117G>A (p.Thr39=) single nucleotide variant Cataract 1 multiple types [RCV002894866] Chr1:147908072 [GRCh38]
Chr1:147380199 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.1000G>A (p.Glu334Lys) single nucleotide variant Inborn genetic diseases [RCV002762934] Chr1:147908955 [GRCh38]
Chr1:147381082 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.901G>A (p.Glu301Lys) single nucleotide variant Inborn genetic diseases [RCV002893462] Chr1:147908856 [GRCh38]
Chr1:147380983 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.1054G>C (p.Glu352Gln) single nucleotide variant Inborn genetic diseases [RCV002813447] Chr1:147909009 [GRCh38]
Chr1:147381136 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.180C>T (p.Gly60=) single nucleotide variant Cataract 1 multiple types [RCV003088569] Chr1:147908135 [GRCh38]
Chr1:147380262 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.266C>T (p.Ser89Phe) single nucleotide variant Cataract 1 multiple types [RCV002717343] Chr1:147908221 [GRCh38]
Chr1:147380348 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.137G>A (p.Gly46Glu) single nucleotide variant Cataract 1 multiple types [RCV003029062]|acorea,microphthalmia and cataract syndrome [RCV003388141] Chr1:147908092 [GRCh38]
Chr1:147380219 [GRCh37]
Chr1:1q21.2
likely pathogenic
NM_005267.5(GJA8):c.528G>T (p.Arg176=) single nucleotide variant Cataract 1 multiple types [RCV002721000] Chr1:147908483 [GRCh38]
Chr1:147380610 [GRCh37]
Chr1:1q21.2
likely benign
Single allele duplication See cases [RCV003154634] Chr1:146397357..148344744 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.339G>C (p.Glu113Asp) single nucleotide variant Inborn genetic diseases [RCV003203650] Chr1:147908294 [GRCh38]
Chr1:147380421 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146405854-147597284)x1 copy number loss not provided [RCV003222662] Chr1:146405854..147597284 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.178G>A (p.Gly60Ser) single nucleotide variant not provided [RCV003319681] Chr1:147908133 [GRCh38]
Chr1:147380260 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.45T>G (p.Asn15Lys) single nucleotide variant not provided [RCV003325069] Chr1:147908000 [GRCh38]
Chr1:147380127 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.736G>T (p.Glu246Ter) single nucleotide variant not provided [RCV003319724] Chr1:147908691 [GRCh38]
Chr1:147380818 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.634G>T (p.Val212Leu) single nucleotide variant Cataract 1 multiple types [RCV003318471] Chr1:147908589 [GRCh38]
Chr1:147380716 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145883619-147594599)x1 copy number loss Chromosome 1q21.1 deletion syndrome [RCV003329511] Chr1:145883619..147594599 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145883619-147817082)x3 copy number gain Chromosome 1q21.1 deletion syndrome [RCV003329552] Chr1:145883619..147817082 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.592C>T (p.Arg198Trp) single nucleotide variant Cataract 1 multiple types [RCV003330247] Chr1:147908547 [GRCh38]
Chr1:147380674 [GRCh37]
Chr1:1q21.2
pathogenic|likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146474687-147415708)x1 copy number loss Chromosome 1q21.1 deletion syndrome [RCV003329500] Chr1:146474687..147415708 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146057275-147581622)x1 copy number loss not provided [RCV003326784] Chr1:146057275..147581622 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.39G>C (p.Glu13Asp) single nucleotide variant Inborn genetic diseases [RCV003353569] Chr1:147907994 [GRCh38]
Chr1:147380121 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.766G>A (p.Ala256Thr) single nucleotide variant Inborn genetic diseases [RCV003386563] Chr1:147908721 [GRCh38]
Chr1:147380848 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:146872717-148353641) copy number loss 1q21.1 microdeletion syndrome (BP3-BP4, distal) [RCV003448604] Chr1:146872717..148353641 [GRCh38]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145311525-147509544)x1 copy number loss not provided [RCV003483316] Chr1:145311525..147509544 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.226C>A (p.Arg76Ser) single nucleotide variant GJA8-related condition [RCV003421171] Chr1:147908181 [GRCh38]
Chr1:147380308 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146043714-147819815)x3 copy number gain not provided [RCV003484037] Chr1:146043714..147819815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146577645-147391923)x3 copy number gain not provided [RCV003484038] Chr1:146577645..147391923 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.208T>G (p.Phe70Val) single nucleotide variant not provided [RCV003456655] Chr1:147908163 [GRCh38]
Chr1:147380290 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146470888-147473821)x1 copy number loss not provided [RCV003483371] Chr1:146470888..147473821 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145769109-148216113)x1 copy number loss not provided [RCV003483360] Chr1:145769109..148216113 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.321A>C (p.Lys107Asn) single nucleotide variant not provided [RCV003408818] Chr1:147908276 [GRCh38]
Chr1:147380403 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.1030C>G (p.Pro344Ala) single nucleotide variant not provided [RCV003408819] Chr1:147908985 [GRCh38]
Chr1:147381112 [GRCh37]
Chr1:1q21.2
benign
NM_005267.5(GJA8):c.622T>C (p.Phe208Leu) single nucleotide variant GJA8-related condition [RCV003402107] Chr1:147908577 [GRCh38]
Chr1:147380704 [GRCh37]
Chr1:1q21.2
likely pathogenic
NM_005267.5(GJA8):c.290T>G (p.Val97Gly) single nucleotide variant GJA8-related condition [RCV003412470] Chr1:147908245 [GRCh38]
Chr1:147380372 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.978G>A (p.Val326=) single nucleotide variant Cataract 1 multiple types [RCV003510371] Chr1:147908933 [GRCh38]
Chr1:147381060 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.20T>C (p.Leu7Pro) single nucleotide variant Cataract 1 multiple types [RCV003511440] Chr1:147907975 [GRCh38]
Chr1:147380102 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.122C>T (p.Ala41Val) single nucleotide variant Cataract 1 multiple types [RCV003509164] Chr1:147908077 [GRCh38]
Chr1:147380204 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.601G>A (p.Glu201Lys) single nucleotide variant Cataract 1 multiple types [RCV003486378] Chr1:147908556 [GRCh38]
Chr1:147380683 [GRCh37]
Chr1:1q21.2
likely pathogenic
NM_005267.5(GJA8):c.246C>G (p.Ile82Met) single nucleotide variant Cataract 1 multiple types [RCV003510770] Chr1:147908201 [GRCh38]
Chr1:147380328 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.1125dup (p.Gly376fs) duplication Cataract 1 multiple types [RCV003510988] Chr1:147909075..147909076 [GRCh38]
Chr1:147381202..147381203 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.150C>T (p.Ser50=) single nucleotide variant Cataract 1 multiple types [RCV003509225] Chr1:147908105 [GRCh38]
Chr1:147380232 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.263C>G (p.Pro88Arg) single nucleotide variant Cataract 1 multiple types [RCV003619947] Chr1:147908218 [GRCh38]
Chr1:147380345 [GRCh37]
Chr1:1q21.2
likely pathogenic
NM_005267.5(GJA8):c.1040G>A (p.Gly347Glu) single nucleotide variant Cataract 1 multiple types [RCV003620095] Chr1:147908995 [GRCh38]
Chr1:147381122 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.1144G>T (p.Glu382Ter) single nucleotide variant Cataract 1 multiple types [RCV003620251] Chr1:147909099 [GRCh38]
Chr1:147381226 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.191T>C (p.Val64Ala) single nucleotide variant Cataract 1 multiple types [RCV003620750] Chr1:147908146 [GRCh38]
Chr1:147380273 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.426G>A (p.Arg142=) single nucleotide variant Cataract 1 multiple types [RCV003619183] Chr1:147908381 [GRCh38]
Chr1:147380508 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.133T>C (p.Trp45Arg) single nucleotide variant Cataract 1 multiple types [RCV003620421] Chr1:147908088 [GRCh38]
Chr1:147380215 [GRCh37]
Chr1:1q21.2
pathogenic
NM_005267.5(GJA8):c.64G>T (p.Gly22Cys) single nucleotide variant Cataract 1 multiple types [RCV003621217] Chr1:147908019 [GRCh38]
Chr1:147380146 [GRCh37]
Chr1:1q21.2
likely pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146470887-147856007)x3 copy number gain not specified [RCV003986518] Chr1:146470887..147856007 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146023922-147831170)x3 copy number gain not specified [RCV003986373] Chr1:146023922..147831170 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146470887-147929323)x1 copy number loss not specified [RCV003986451] Chr1:146470887..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147830830)x1 copy number loss not specified [RCV003986595] Chr1:146043713..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146112080-147806677)x3 copy number gain not specified [RCV003986617] Chr1:146112080..147806677 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146106723-147844758)x3 copy number gain not specified [RCV003986917] Chr1:146106723..147844758 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146470887-147929115)x1 copy number loss not specified [RCV003986706] Chr1:146470887..147929115 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1
pathogenic
NM_005267.5(GJA8):c.477C>G (p.Thr159=) single nucleotide variant GJA8-related condition [RCV003894460] Chr1:147908432 [GRCh38]
Chr1:147380559 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.1273C>T (p.Arg425Ter) single nucleotide variant Cataract 1 multiple types [RCV003988687] Chr1:147909228 [GRCh38]
Chr1:147381355 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211) copy number loss Autism spectrum disorder [RCV003885439] Chr1:145421717..148193211 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005267.5(GJA8):c.332C>T (p.Ala111Val) single nucleotide variant GJA8-related condition [RCV003981297] Chr1:147908287 [GRCh38]
Chr1:147380414 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.-9G>T single nucleotide variant GJA8-related condition [RCV003893728] Chr1:147907947 [GRCh38]
Chr1:147380074 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.1095C>T (p.Ala365=) single nucleotide variant GJA8-related condition [RCV003979476] Chr1:147909050 [GRCh38]
Chr1:147381177 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.144G>A (p.Glu48=) single nucleotide variant GJA8-related condition [RCV003974177] Chr1:147908099 [GRCh38]
Chr1:147380226 [GRCh37]
Chr1:1q21.2
likely benign
NM_005267.5(GJA8):c.460C>G (p.His154Asp) single nucleotide variant Cataract 1 multiple types [RCV003988794] Chr1:147908415 [GRCh38]
Chr1:147380542 [GRCh37]
Chr1:1q21.2
uncertain significance
NM_005267.5(GJA8):c.426G>C (p.Arg142=) single nucleotide variant GJA8-related condition [RCV003901901] Chr1:147908381 [GRCh38]
Chr1:147380508 [GRCh37]
Chr1:1q21.2
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:437
Count of miRNA genes:206
Interacting mature miRNAs:218
Transcripts:ENST00000240986, ENST00000369235
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
PMC197251P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371147,380,085 - 147,380,879UniSTSGRCh37
Build 361145,846,709 - 145,847,503RGDNCBI36
Celera1121,603,126 - 121,603,920RGD
HuRef1120,793,560 - 120,794,354UniSTS
GJA8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371147,380,168 - 147,380,287UniSTSGRCh37
Build 361145,846,792 - 145,846,911RGDNCBI36
Celera1121,603,718 - 121,603,837RGD
HuRef1120,793,643 - 120,793,762UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 234 1
Low 2 3 1 4 1 1 2 29 193 3 1
Below cutoff 222 288 209 60 154 44 495 215 561 124 163 169 17 104 341

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC239801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF217524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI364417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ184886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD674975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB476698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF672108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM190128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM190129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM190130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM190131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM190132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM190133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM190134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM190135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM190136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM190137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM190138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM190139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM190140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM190141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM190142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM190143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR091849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU342018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY556641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U34802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000369235   ⟹   ENSP00000358238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,902,795 - 147,909,269 (+)Ensembl
RefSeq Acc Id: NM_005267   ⟹   NP_005258
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,902,795 - 147,909,269 (+)NCBI
GRCh371147,374,946 - 147,381,396 (+)ENTREZGENE
Build 361145,841,560 - 145,848,017 (+)NCBI Archive
HuRef1120,788,421 - 120,794,871 (+)ENTREZGENE
CHM1_11149,270,946 - 149,277,395 (+)NCBI
T2T-CHM13v2.01146,898,390 - 146,904,865 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509417   ⟹   XP_011507719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,907,156 - 147,914,486 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054336002   ⟹   XP_054191977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01146,892,371 - 146,900,503 (-)NCBI
Protein Sequences
Protein RefSeqs NP_005258 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507719 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191977 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA77062 (Get FASTA)   NCBI Sequence Viewer  
  AAF32309 (Get FASTA)   NCBI Sequence Viewer  
  ABS11172 (Get FASTA)   NCBI Sequence Viewer  
  AHW56485 (Get FASTA)   NCBI Sequence Viewer  
  AIT70949 (Get FASTA)   NCBI Sequence Viewer  
  AIT70950 (Get FASTA)   NCBI Sequence Viewer  
  AIT70951 (Get FASTA)   NCBI Sequence Viewer  
  AIT70952 (Get FASTA)   NCBI Sequence Viewer  
  AIT70953 (Get FASTA)   NCBI Sequence Viewer  
  AIT70954 (Get FASTA)   NCBI Sequence Viewer  
  AIT70955 (Get FASTA)   NCBI Sequence Viewer  
  AIT70956 (Get FASTA)   NCBI Sequence Viewer  
  AIT70957 (Get FASTA)   NCBI Sequence Viewer  
  AIT70958 (Get FASTA)   NCBI Sequence Viewer  
  AIT70959 (Get FASTA)   NCBI Sequence Viewer  
  AIT70960 (Get FASTA)   NCBI Sequence Viewer  
  AIT70961 (Get FASTA)   NCBI Sequence Viewer  
  AIT70962 (Get FASTA)   NCBI Sequence Viewer  
  AIT70963 (Get FASTA)   NCBI Sequence Viewer  
  AIT70964 (Get FASTA)   NCBI Sequence Viewer  
  ALU11230 (Get FASTA)   NCBI Sequence Viewer  
  AMM45325 (Get FASTA)   NCBI Sequence Viewer  
  AUO28714 (Get FASTA)   NCBI Sequence Viewer  
  CAH72387 (Get FASTA)   NCBI Sequence Viewer  
  EAW50926 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000358238
  ENSP00000358238.1
GenBank Protein P48165 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005258   ⟸   NM_005267
- UniProtKB: Q5VVN9 (UniProtKB/Swiss-Prot),   A7L5M5 (UniProtKB/Swiss-Prot),   Q9NP25 (UniProtKB/Swiss-Prot),   P48165 (UniProtKB/Swiss-Prot),   X5D7G1 (UniProtKB/TrEMBL),   A0A097IWA5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507719   ⟸   XM_011509417
- Peptide Label: isoform X1
- UniProtKB: A0A097IWA5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000358238   ⟸   ENST00000369235
RefSeq Acc Id: XP_054191977   ⟸   XM_054336002
- Peptide Label: isoform X1
- UniProtKB: A0A097IWA5 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48165-F1-model_v2 AlphaFold P48165 1-433 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4281 AgrOrtholog
COSMIC GJA8 COSMIC
Ensembl Genes ENSG00000121634 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000369235 ENTREZGENE
  ENST00000369235.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1440.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000121634 GTEx
HGNC ID HGNC:4281 ENTREZGENE
Human Proteome Map GJA8 Human Proteome Map
InterPro Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CCC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2703 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2703 ENTREZGENE
OMIM 600897 OMIM
PANTHER PTHR11984 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11984:SF19 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28692 PharmGKB
PRINTS CONNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CONNEXINA8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CONNEXINS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CONNEXINS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CNX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CCC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A097IW49_HUMAN UniProtKB/TrEMBL
  A0A097IW54_HUMAN UniProtKB/TrEMBL
  A0A097IW59_HUMAN UniProtKB/TrEMBL
  A0A097IW70_HUMAN UniProtKB/TrEMBL
  A0A097IW74_HUMAN UniProtKB/TrEMBL
  A0A097IW80_HUMAN UniProtKB/TrEMBL
  A0A097IW90_HUMAN UniProtKB/TrEMBL
  A0A097IW93_HUMAN UniProtKB/TrEMBL
  A0A097IW94_HUMAN UniProtKB/TrEMBL
  A0A097IW98_HUMAN UniProtKB/TrEMBL
  A0A097IW99_HUMAN UniProtKB/TrEMBL
  A0A097IWA1_HUMAN UniProtKB/TrEMBL
  A0A097IWA4_HUMAN UniProtKB/TrEMBL
  A0A097IWA5 ENTREZGENE, UniProtKB/TrEMBL
  A0A097IWB1_HUMAN UniProtKB/TrEMBL
  A0A0U3E7C9_HUMAN UniProtKB/TrEMBL
  A0A2I6SQQ9_HUMAN UniProtKB/TrEMBL
  A7L5M5 ENTREZGENE
  CXA8_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5VVN9 ENTREZGENE
  Q9NP25 ENTREZGENE
  X5D7G1 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A7L5M5 UniProtKB/Swiss-Prot
  Q5VVN9 UniProtKB/Swiss-Prot
  Q9NP25 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 GJA8  gap junction protein alpha 8    gap junction protein, alpha 8, 50kDa  Symbol and/or name change 5135510 APPROVED