Deletion | NM_004329.3(BMPR1A):c.150del (p.Ala51fs) | BMPR1A | Pathogenic | 10 | 88649901 | 88649901 | TA | T | criteria provided, single submitter | - |
Insertion | NM_004329.3(BMPR1A):c.110_111insCCATGGCACTGGGAT (p.Ser37_Asp38insHisGlyThrGlyIle) | BMPR1A | Pathogenic | 10 | 88649861 | 88649862 | C | CCCATGGCACTGGGAT | criteria provided, single submitter | - |
Deletion | NM_004329.3(BMPR1A):c.1065del (p.Lys355fs) | BMPR1A | Pathogenic | 10 | 88679125 | 88679125 | AG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_004329.3(BMPR1A):c.189C>A (p.Cys63Ter) | BMPR1A | Pathogenic | 10 | 88649940 | 88649940 | C | A | criteria provided, single submitter | - |
Deletion | NC_000018.10:g.(?_51076628)_(51078477_?)del | SMAD4 | Pathogenic | 18 | 48602998 | 48604847 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_005359.6(SMAD4):c.585C>G (p.Tyr195Ter) | SMAD4 | Pathogenic | 18 | 48581281 | 48581281 | C | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_005359.6(SMAD4):c.1572G>A (p.Trp524Ter) | SMAD4 | Pathogenic | 18 | 48604750 | 48604750 | G | A | criteria provided, single submitter | - |
Deletion | NM_005359.6(SMAD4):c.1343_1367del (p.Gln448fs) | SMAD4 | Pathogenic | 18 | 48603040 | 48603064 | TGCAGCAGCAGGCGGCTACTGCACAA | T | criteria provided, single submitter | - |
Duplication | NM_005359.6(SMAD4):c.939dup (p.Ile314fs) | SMAD4 | Pathogenic | 18 | 48586267 | 48586268 | T | TC | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000018.10:g.(?_51030213)_(51078477_?)del | SMAD4 | Pathogenic | 18 | 48556583 | 48604847 | na | na | criteria provided, single submitter | - |