Total 67 pathogenic variants reported for Oculodentodigital dysplasia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000165.5(GJA1):c.50A>C (p.Tyr17Ser) SNV
Germline		 Chr6:121446897 Pathogenic Oculodentodigital dysplasia No Assertion Criteria Provided
 CA127011 rs_104893961

1 SubmittersRCV000018503
NM_000165.5(GJA1):c.52T>C (p.Ser18Pro) SNV
Germline		 Chr6:121446899 Pathogenic Oculodentodigital dysplasia No Assertion Criteria Provided
 CA215133 rs_104893962

1 SubmittersRCV000018504
NM_000165.5(GJA1):c.61G>A (p.Gly21Arg) SNV
Germline		 Chr6:121446908 Pathogenic Oculodentodigital dysplasia
Oculodentodigital dysplasia, autosomal recessive		 Criteria Provided
Single Submitter
 CA127012 rs_104893963

2 SubmittersRCV000018505RCV006461176
NM_000165.5(GJA1):c.65G>A (p.Gly22Glu) SNV
Germline		 Chr6:121446912 Pathogenic/Likely pathogenic Oculodentodigital dysplasia
Oculodentodigital dysplasia, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127013 rs_104893964

3 SubmittersRCV000018506RCV000691386
NM_000165.5(GJA1):c.286G>A (p.Val96Met) SNV
Germline		 Chr6:121447133 Pathogenic Oculodentodigital dysplasia
Oculodentodigital dysplasia, autosomal recessive		 Criteria Provided
Single Submitter
 CA215134 rs_28931601

2 SubmittersRCV000018509RCV005089271
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln) SNV
Germline		 Chr6:121447932 Conflicting classifications of pathogenicity Hypoplastic left heart syndrome 1
Atrioventricular septal defect and common atrioventricular junction
Condition: not provided
Oculodentodigital dysplasia, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA215135 rs_2227885

3 SubmittersRCV000018511RCV000018512RCV000444307RCV001089368
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln) SNV
Germline		 Chr6:121447974 Conflicting classifications of pathogenicity Atrioventricular septal defect and common atrioventricular junction
Hypoplastic left heart syndrome 1
Oculodentodigital dysplasia, autosomal recessive
Syndactyly type 3
Oculodentodigital dysplasia
Condition: not provided
6 conditions		 Criteria Provided
Conflicting Classifications
 CA215136 rs_104893965

6 SubmittersRCV000018514RCV000018513RCV000860936RCV001155824RCV001153228RCV001557593RCV005400417
NM_000165.5(GJA1):c.581A>C (p.His194Pro) SNV
Germline		 Chr6:121447428 Pathogenic Oculodentodigital dysplasia No Assertion Criteria Provided
 CA127015 rs_104893966

1 SubmittersRCV000018515
NM_000165.5(GJA1):c.32T>C (p.Leu11Pro) SNV
Germline		 Chr6:121446879 Pathogenic Oculodentodigital dysplasia No Assertion Criteria Provided
 CA127016 rs_121912969

1 SubmittersRCV000018516
NM_000165.5(GJA1):c.97C>T (p.Arg33Ter) SNV
Germline		 Chr6:121446944 Pathogenic Oculodentodigital dysplasia, autosomal recessive No Assertion Criteria Provided
 CA127017 rs_121912970

1 SubmittersRCV000018518
NM_000165.5(GJA1):c.227G>A (p.Arg76His) SNV
Germline		 Chr6:121447074 Pathogenic Oculodentodigital dysplasia, autosomal recessive No Assertion Criteria Provided
 CA127019 rs_267606844

1 SubmittersRCV000018519
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) SNV
Germline		 Chr6:121447073 Pathogenic/Likely pathogenic Oculodentodigital dysplasia
Condition: not provided
Oculodentodigital dysplasia, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127020 rs_267606845

5 SubmittersRCV000018520RCV000430201RCV002513102
NM_000165.5(GJA1):c.31C>T (p.Leu11Phe) SNV
Germline		 Chr6:121446878 Pathogenic Oculodentodigital dysplasia No Assertion Criteria Provided
 CA128546 rs_387906616

1 SubmittersRCV000022517
NM_000165.5(GJA1):c.716G>A (p.Arg239Gln) SNV
Germline		 Chr6:121447563 Conflicting classifications of pathogenicity Craniometaphyseal dysplasia, autosomal recessive
Condition: not provided
Oculodentodigital dysplasia, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA203900 rs_764670582

3 SubmittersRCV000185622RCV000513765RCV001853081
NM_000165.5(GJA1):c.617A>G (p.Lys206Arg) SNV
Germline		 Chr6:121447464 Pathogenic Oculodentodigital dysplasia No Assertion Criteria Provided
 CA145310 rs_397518464

1 SubmittersRCV000074385
NM_000165.5(GJA1):c.131C>T (p.Ala44Val) SNV
Germline		 Chr6:121446978 Pathogenic/Likely pathogenic Erythrokeratodermia variabilis et progressiva 3
Oculodentodigital dysplasia, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA203901 rs_794729675

3 SubmittersRCV000185625RCV002516956
NM_000165.5(GJA1):c.-135C>T SNV
Germline		 Chr6:121435714 Conflicting classifications of pathogenicity Hypoplastic left heart syndrome 1
Syndactyly type 3
Oculodentodigital dysplasia		 Criteria Provided
Conflicting Classifications
 CA10621311 rs_539558089

1 SubmittersRCV000277770RCV000333087RCV000367853
NM_000165.5(GJA1):c.-67C>G SNV
Germline		 Chr6:121435782 Conflicting classifications of pathogenicity Syndactyly type 3
Oculodentodigital dysplasia
Hypoplastic left heart syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10621312 rs_111581053

2 SubmittersRCV000269687RCV000329447RCV000364357RCV002274018
NM_000165.5(GJA1):c.*243A>G SNV
Germline		 Chr6:121448239 Conflicting classifications of pathogenicity Oculodentodigital dysplasia
Syndactyly type 3
Hypoplastic left heart syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10621318 rs_139128953

2 SubmittersRCV000289708RCV000328392RCV000381548RCV001591021
NM_000165.5(GJA1):c.-16-12T>A SNV
Germline		 Chr6:121446820 Conflicting classifications of pathogenicity Hypoplastic left heart syndrome 1
Oculodentodigital dysplasia
Syndactyly type 3
Condition: not provided
Sarcoma
Lymphoma
Familial cancer of breast
Thymoma
Nonpapillary renal cell carcinoma
Lung cancer
Cervical cancer
Uterine corpus endometrial carcinoma
Gastric cancer
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA3981646 rs_56199702

5 SubmittersRCV000284492RCV000320948RCV000383666RCV000436781RCV005899034RCV005899036RCV005899030RCV005899037RCV005899031RCV005899038RCV005899032RCV005899039RCV005899035RCV005899033
NM_000165.5(GJA1):c.270C>G (p.Leu90=) SNV
Germline		 Chr6:121447117 Conflicting classifications of pathogenicity Hypoplastic left heart syndrome 1
Oculodentodigital dysplasia
Syndactyly type 3
Oculodentodigital dysplasia, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA10625701 rs_886061009

2 SubmittersRCV000285882RCV000336228RCV000380167RCV005090578
NM_000165.5(GJA1):c.456G>A (p.Leu152=) SNV
Germline		 Chr6:121447303 Conflicting classifications of pathogenicity Syndactyly type 3
Hypoplastic left heart syndrome 1
Oculodentodigital dysplasia
Condition: not provided
Oculodentodigital dysplasia, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA3981689 rs_72548741

3 SubmittersRCV000282479RCV000349696RCV000372243RCV000842194RCV001429544
NM_000165.5(GJA1):c.1128G>A (p.Arg376=) SNV
Germline		 Chr6:121447975 Conflicting classifications of pathogenicity Syndactyly type 3
Oculodentodigital dysplasia, autosomal recessive
Oculodentodigital dysplasia
Condition: not provided
Hypoplastic left heart syndrome 1		 Criteria Provided
Conflicting Classifications
 CA3981829 rs_145215218

3 SubmittersRCV000322881RCV001088161RCV000373116RCV000827825RCV000259758
NM_000165.5(GJA1):c.*119T>C SNV
Germline		 Chr6:121448115 Conflicting classifications of pathogenicity Hypoplastic left heart syndrome 1
Syndactyly type 3
Oculodentodigital dysplasia		 Criteria Provided
Conflicting Classifications
 CA10625774 rs_72548742

1 SubmittersRCV000308917RCV000345504RCV000394994
NM_000165.5(GJA1):c.605G>A (p.Arg202His) SNV
Germline		 Chr6:121447452 Conflicting classifications of pathogenicity Condition: not provided
Oculodentodigital dysplasia, autosomal recessive
Oculodentodigital dysplasia		 Criteria Provided
Conflicting Classifications
 CA3981712 rs_750294638

6 SubmittersRCV000413018RCV000698171RCV003223401
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) SNV
Germline		 Chr6:121446966 Pathogenic Oculodentodigital dysplasia
Condition: not provided
Oculodentodigital dysplasia, autosomal recessive
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA365557952 rs_1554200992

4 SubmittersRCV000504313RCV003228939RCV002524189RCV002506224
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) SNV
Germline		 Chr6:121447290 Pathogenic/Likely pathogenic Oculodentodigital dysplasia
Condition: not provided
Oculodentodigital dysplasia, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA146810025 rs_962041031

6 SubmittersRCV000500645RCV001579352RCV003517211
NM_000165.5(GJA1):c.646G>T (p.Val216Leu) SNV
Germline		 Chr6:121447493 Pathogenic Oculodentodigital dysplasia Criteria Provided
Single Submitter
 CA365559480 rs_1554201043

1 SubmittersRCV000502204
NM_000165.5(GJA1):c.140A>T (p.Asp47Val) SNV
Germline		 Chr6:121446987 Pathogenic/Likely pathogenic Oculodentodigital dysplasia, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA365557998 rs_1554200995

2 SubmittersRCV000560533RCV000998674
NM_000165.5(GJA1):c.389T>C (p.Ile130Thr) SNV
Germline		 Chr6:121447236 Pathogenic Oculodentodigital dysplasia, autosomal recessive Criteria Provided
Single Submitter
 CA365558896 rs_1554201017

1 SubmittersRCV000549390
NM_000165.5(GJA1):c.413G>A (p.Gly138Asp) SNV
Germline		 Chr6:121447260 Pathogenic Oculodentodigital dysplasia, autosomal recessive
Oculodentodigital dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA365558957 rs_1554201019

3 SubmittersRCV000557512RCV002527897
NM_080680.3(COL11A2):c.3877C>T (p.Arg1293Ter) SNV
Germline		 Chr6:33168735 Pathogenic/Likely pathogenic Condition: not provided
Oculodentodigital dysplasia, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3750328 rs_746754428

3 SubmittersRCV000591888RCV005645112
NM_000165.5(GJA1):c.412G>A (p.Gly138Ser) SNV
Germline		 Chr6:121447259 Pathogenic/Likely pathogenic Oculodentodigital dysplasia, autosomal recessive
Oculodentodigital dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA365558954 rs_1554201018

2 SubmittersRCV000646780RCV005253024
NM_000165.5(GJA1):c.306G>C (p.Lys102Asn) SNV
Germline		 Chr6:121447153 Pathogenic Oculodentodigital dysplasia, autosomal recessive Criteria Provided
Single Submitter
 CA365558626 rs_1554201011

1 SubmittersRCV000646779
NM_000165.5(GJA1):c.814T>C (p.Ser272Pro) SNV
Germline		 Chr6:121447661 Conflicting classifications of pathogenicity Oculodentodigital dysplasia, autosomal recessive
Oculodentodigital dysplasia
Syndactyly type 3
Hypoplastic left heart syndrome 1
Condition: not provided
GJA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA3981761 rs_376074787

4 SubmittersRCV000703913RCV001151960RCV001151961RCV001157434RCV004702352RCV003980318
NM_000165.5(GJA1):c.64G>A (p.Gly22Arg) SNV
Germline		 Chr6:121446911 Pathogenic Oculodentodigital dysplasia, autosomal recessive Criteria Provided
Single Submitter
 CA365557837 rs_1773898234

1 SubmittersRCV001046978
NM_000165.5(GJA1):c.706G>A (p.Val236Ile) SNV
Germline		 Chr6:121447553 Conflicting classifications of pathogenicity Hypoplastic left heart syndrome 1
Syndactyly type 3
Oculodentodigital dysplasia
Oculodentodigital dysplasia, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3981725 rs_148384161

3 SubmittersRCV001153122RCV001155725RCV001155726RCV001454547RCV001570333
NM_000165.5(GJA1):c.717G>C (p.Arg239=) SNV
Germline		 Chr6:121447564 Conflicting classifications of pathogenicity Syndactyly type 3
Oculodentodigital dysplasia
Hypoplastic left heart syndrome 1
Oculodentodigital dysplasia, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3981728 rs_57946868

3 SubmittersRCV001157428RCV001157429RCV001157430RCV001441182RCV001732055
NM_000165.5(GJA1):c.764G>A (p.Ser255Asn) SNV
Germline		 Chr6:121447611 Conflicting classifications of pathogenicity Oculodentodigital dysplasia
Hypoplastic left heart syndrome 1
Syndactyly type 3
Oculodentodigital dysplasia, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA3981751 rs_765459582

2 SubmittersRCV001157433RCV001157432RCV001157431RCV002032456
NM_000165.5(GJA1):c.*498G>A SNV
Germline		 Chr6:121448494 Conflicting classifications of pathogenicity Hypoplastic left heart syndrome 1
Oculodentodigital dysplasia
Syndactyly type 3		 Criteria Provided
Conflicting Classifications
 CA146810090 rs_575593821

1 SubmittersRCV001155941RCV001155942RCV001155943
NM_000165.5(GJA1):c.53C>A (p.Ser18Ter) SNV
Germline		 Chr6:121446900 Pathogenic Oculodentodigital dysplasia, autosomal recessive Criteria Provided
Single Submitter
 CA365557819 rs_1773898086

1 SubmittersRCV001210770
NM_000165.5(GJA1):c.577C>G (p.Pro193Ala) SNV
Germline		 Chr6:121447424 Likely pathogenic Oculodentodigital dysplasia, autosomal recessive Criteria Provided
Single Submitter
 CA365559326 rs_1773907180

1 SubmittersRCV001210771
NM_000165.5(GJA1):c.93T>G (p.Ile31Met) SNV
Unknown		 Chr6:121446940 Pathogenic Oculodentodigital dysplasia Criteria Provided
Single Submitter
 CA365557902 rs_1773898804

1 SubmittersRCV001391613
NM_000165.5(GJA1):c.142G>A (p.Glu48Lys) SNV
Germline		 Chr6:121446989 Pathogenic/Likely pathogenic Oculodentodigital dysplasia
Oculodentodigital dysplasia, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA365558001 rs_1773899790

2 SubmittersRCV001329666RCV001378531
NM_000165.5(GJA1):c.602C>A (p.Ser201Tyr) SNV
Germline		 Chr6:121447449 Likely pathogenic Oculodentodigital dysplasia No Assertion Criteria Provided
 CA365559382 rs_2114283819

1 SubmittersRCV001542655
NM_000165.5(GJA1):c.416T>A (p.Ile139Asn) SNV
Germline		 Chr6:121447263 Likely pathogenic Oculodentodigital dysplasia Criteria Provided
Single Submitter
 CA365558963 rs_2114283459

1 SubmittersRCV001775339
NM_000165.5(GJA1):c.196T>C (p.Tyr66His) SNV
Germline		 Chr6:121447043 Likely pathogenic Oculodentodigital dysplasia, autosomal recessive Criteria Provided
Single Submitter
 CA365558202 rs_2114283106

1 SubmittersRCV002037343
NM_000165.5(GJA1):c.246C>G (p.Ile82Met) SNV
Germline		 Chr6:121447093 Likely pathogenic Oculodentodigital dysplasia, autosomal recessive Criteria Provided
Single Submitter
 CA365558386 rs_1773901440

1 SubmittersRCV001980893
NM_000165.5(GJA1):c.457C>T (p.Arg153Ter) SNV
Germline		 Chr6:121447304 Conflicting classifications of pathogenicity Condition: not provided
not specified
Oculodentodigital dysplasia, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA3981690 rs_763503078

3 SubmittersRCV002281451RCV002469463RCV003096329
NM_000165.5(GJA1):c.187A>G (p.Asn63Asp) SNV
Germline		 Chr6:121447034 Pathogenic Oculodentodigital dysplasia, autosomal recessive Criteria Provided
Single Submitter
 CA365558162 rs_1773900443

1 SubmittersRCV002304501
NM_000165.5(GJA1):c.461C>A (p.Thr154Asn) SNV
Germline		 Chr6:121447308 Likely pathogenic Oculodentodigital dysplasia, autosomal recessive Criteria Provided
Single Submitter
 CA365559061 rs_2536821904

1 SubmittersRCV003037185
NM_000165.5(GJA1):c.113G>A (p.Gly38Glu) SNV
Germline		 Chr6:121446960 Pathogenic/Likely pathogenic Oculodentodigital dysplasia, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA365557939 rs_1554200990

2 SubmittersRCV003084865RCV003332408
NM_000165.5(GJA1):c.602C>T (p.Ser201Phe) SNV
Germline		 Chr6:121447449 Pathogenic Oculodentodigital dysplasia Criteria Provided
Single Submitter
 CA365559384 rs_2114283819

1 SubmittersRCV003397190
NM_000165.5(GJA1):c.32T>A (p.Leu11His) SNV
Germline		 Chr6:121446879 Pathogenic Oculodentodigital dysplasia, autosomal recessive Criteria Provided
Single Submitter
 CA365557771 rs_121912969

1 SubmittersRCV003518063
NM_000165.5(GJA1):c.121G>C (p.Val41Leu) SNV
Germline		 Chr6:121446968 Likely pathogenic Oculodentodigital dysplasia, autosomal recessive Criteria Provided
Single Submitter
 CA365557955 rs_2536821212

1 SubmittersRCV003518753
NM_000165.5(GJA1):c.226C>T (p.Arg76Cys) SNV
Germline		 Chr6:121447073 Likely pathogenic Oculodentodigital dysplasia, autosomal recessive Criteria Provided
Single Submitter
 CA365558314 rs_267606845

1 SubmittersRCV003518754
NM_000165.5(GJA1):c.690T>G (p.Tyr230Ter) SNV
Germline		 Chr6:121447537 Likely pathogenic Oculodentodigital dysplasia Criteria Provided
Single Submitter
 CA365559576 rs_775689247

1 SubmittersRCV003988719
NM_000165.5(GJA1):c.179G>C (p.Gly60Ala) SNV
Germline		 Chr6:121447026 Likely pathogenic Oculodentodigital dysplasia Criteria Provided
Single Submitter
 CA365558127 rs_2536821290

1 SubmittersRCV004555189
NM_000165.5(GJA1):c.235G>A (p.Val79Ile) SNV
Germline		 Chr6:121447082 Likely pathogenic Oculodentodigital dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV004788198
NM_000165.5(GJA1):c.679G>C (p.Glu227Gln) SNV
Germline		 Chr6:121447526 Pathogenic Oculodentodigital dysplasia, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV005117275
NM_000165.5(GJA1):c.402G>T (p.Lys134Asn) SNV
Germline		 Chr6:121447249 Likely pathogenic Oculodentodigital dysplasia, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV006540579
NM_000165.5(GJA1):c.442C>G (p.Arg148Gly) SNV
Germline		 Chr6:121447289 Likely pathogenic Oculodentodigital dysplasia, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV006540580
NM_000165.5(GJA1):c.460A>C (p.Thr154Pro) SNV
Germline		 Chr6:121447307 Likely pathogenic Oculodentodigital dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV006553761