Total 58 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 No Assertion Criteria Provided
 CA127012 rs_104893963

1 SubmittersRCV000018505
NM_000165.5(GJA1):c.65G>A (p.Gly22Glu) SNV
Germline		 Chr6:121446912 Pathogenic Oculodentodigital dysplasia
Oculodentodigital dysplasia, autosomal recessive		 Criteria Provided
Single Submitter
 CA127013 rs_104893964

2 SubmittersRCV000018506RCV000691386
NM_000165.5(GJA1):c.286G>A (p.Val96Met) SNV
Germline		 Chr6:121447133 Pathogenic Oculodentodigital dysplasia No Assertion Criteria Provided
 CA215134 rs_28931601

1 SubmittersRCV000018509
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		 Criteria Provided
Conflicting Classifications
 CA215136 rs_104893965

5 SubmittersRCV000018514RCV000018513RCV000860936RCV001155824RCV001153228RCV001557593
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 Conflicting classifications of pathogenicity Oculodentodigital dysplasia
Condition: not provided
Oculodentodigital dysplasia, autosomal recessive		 Criteria Provided
Conflicting Classifications
 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		 Criteria Provided
Conflicting Classifications
 CA3981646 rs_56199702

3 SubmittersRCV000284492RCV000320948RCV000383666RCV000436781
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 Hypoplastic left heart syndrome 1
Syndactyly type 3
Oculodentodigital dysplasia
Condition: not provided
Oculodentodigital dysplasia, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA3981829 rs_145215218

3 SubmittersRCV000259758RCV000322881RCV000373116RCV000827825RCV001088161
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

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

4 SubmittersRCV000504313RCV002506224RCV003228939RCV002524189
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) SNV
Germline		 Chr6:121447290 Conflicting classifications of pathogenicity Oculodentodigital dysplasia
Condition: not provided
Oculodentodigital dysplasia, autosomal recessive		 Criteria Provided
Conflicting Classifications
 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/Likely pathogenic Oculodentodigital dysplasia, autosomal recessive
Oculodentodigital dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA365558957 rs_1554201019

2 SubmittersRCV000557512RCV002527897
NM_000165.5(GJA1):c.412G>A (p.Gly138Ser) SNV
Germline		 Chr6:121447259 Pathogenic Oculodentodigital dysplasia, autosomal recessive Criteria Provided
Single Submitter
 CA365558954 rs_1554201018

1 SubmittersRCV000646780
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
GJA1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_376074787

3 SubmittersRCV000703913RCV001151960RCV001151961RCV001157434RCV003980318
NM_000165.5(GJA1):c.64G>A (p.Gly22Arg) SNV
Germline		 Chr6:121446911 Pathogenic Oculodentodigital dysplasia, autosomal recessive Criteria Provided
Single Submitter
 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
 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
 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
 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
 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
 rs_1773898086

1 SubmittersRCV001210770
NM_000165.5(GJA1):c.93T>G (p.Ile31Met) SNV
Unknown		 Chr6:121446940 Pathogenic Oculodentodigital dysplasia Criteria Provided
Single Submitter
 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
 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
 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
 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
 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
 rs_1773901440

1 SubmittersRCV001980893
NM_000165.5(GJA1):c.187A>G (p.Asn63Asp) SNV
Germline		 Chr6:121447034 Pathogenic Oculodentodigital dysplasia, autosomal recessive Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

1 SubmittersRCV004555189