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 |