NM_001146312.3(MYOCD):c.343C>T (p.Arg115Ter)
|
SNV Germline |
Chr17:12722936 |
Pathogenic |
Prune belly syndrome Megabladder, congenital |
No Assertion Criteria Provided |
|
rs_1597782599 |
2 SubmittersRCV000850243RCV000984630 |
NM_001110556.2(FLNA):c.6479G>A (p.Cys2160Tyr)
|
SNV Germline |
ChrX:154352576 |
Likely pathogenic |
Prune belly syndrome |
Criteria Provided Single Submitter |
|
rs_1603359205 |
1 SubmittersRCV000984547 |
NM_001110556.2(FLNA):c.6707G>T (p.Gly2236Val)
|
SNV Germline |
ChrX:154352243 |
Likely pathogenic |
Prune belly syndrome |
Criteria Provided Single Submitter |
|
rs_1603359091 |
1 SubmittersRCV000985242 |
NM_001375978.1(CHRM3):c.352G>A (p.Gly118Arg)
|
SNV Germline |
Chr1:239907803 |
Pathogenic |
Prune belly syndrome |
No Assertion Criteria Provided |
|
rs_1680093659 |
1 SubmittersRCV001251074 |