Total 4 pathogenic variants reported for Tarsal-carpal coalition syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_005450.6(NOG):c.665A>G (p.Tyr222Cys) SNV
Germline
Chr17:56594888 Likely pathogenic Proximal symphalangism 1A
Tarsal-carpal coalition syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA118425 rs_104894602

2 SubmittersRCV000007079RCV000007087RCV002247256

NM_005450.6(NOG):c.611G>T (p.Arg204Leu) SNV
Germline
Chr17:56594834 Pathogenic Tarsal-carpal coalition syndrome No Assertion Criteria Provided
CA118430 rs_104894610

1 SubmittersRCV000007084

NM_005450.6(NOG):c.104C>G (p.Pro35Arg) SNV
Germline
Chr17:56594327 Pathogenic Tarsal-carpal coalition syndrome
Proximal symphalangism 1A
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA118431 rs_104894611

3 SubmittersRCV000007085RCV000049267RCV002512863

NM_005450.6(NOG):c.611G>A (p.Arg204Gln) SNV
Germline
Chr17:56594834 Conflicting classifications of pathogenicity Tarsal-carpal coalition syndrome
Brachydactyly type B2
Proximal symphalangism 1A
Tarsal-carpal coalition syndrome
Stapes ankylosis with broad thumbs and toes
Symphalangism-brachydactyly syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16044047 rs_104894610

3 SubmittersRCV000416327RCV001254352RCV002521489