Deletion | NM_001370658.1(BTD):c.534_536del (p.Val179del) | BTD | Pathogenic/Likely pathogenic | 3 | 15685957 | 15685959 | TGTC | T | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_001352514.2(HLCS):c.2260dup (p.Ser754fs) | HLCS | Pathogenic/Likely pathogenic | 21 | 38129032 | 38129033 | C | CT | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp) | HLCS | Pathogenic/Likely pathogenic | 21 | 38302642 | 38302642 | A | T | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_001352514.2(HLCS):c.1418dup (p.Glu474fs) | HLCS | Pathogenic/Likely pathogenic | 21 | 38308767 | 38308768 | T | TC | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001370658.1(BTD):c.941_942del (p.Ile314fs) | BTD | Pathogenic/Likely pathogenic | 3 | 15686364 | 15686365 | ATT | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs) | BTD | Pathogenic/Likely pathogenic | 3 | 15686715 | 15686716 | GGC | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter) | BTD | Pathogenic/Likely pathogenic | 3 | 15686448 | 15686448 | T | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001370658.1(BTD):c.932_941del (p.His311fs) | BTD | Pathogenic/Likely pathogenic | 3 | 15686355 | 15686364 | CACCTTATAAT | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001370658.1(BTD):c.527del (p.Thr176fs) | BTD | Pathogenic/Likely pathogenic | 3 | 15685950 | 15685950 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658796245 |
single nucleotide variant | NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter) | HLCS | Pathogenic/Likely pathogenic | 21 | 38302595 | 38302595 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA409911138 |