Duplication | NM_001352514.2(HLCS):c.1418dup (p.Glu474fs) | HLCS | Pathogenic/Likely pathogenic | 21 | 38308767 | 38308768 | T | TC | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001352514.2(HLCS):c.1620+1G>A | HLCS | Likely pathogenic | 21 | 38302550 | 38302550 | C | T | criteria provided, single submitter | - |
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 | - |
Deletion | NM_001352514.2(HLCS):c.712_713del (p.Arg238fs) | HLCS | Likely pathogenic | 21 | 38309473 | 38309474 | CCT | C | criteria provided, single submitter | - |
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.691G>T (p.Glu231Ter) | HLCS | Pathogenic | 21 | 38309495 | 38309495 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter) | HLCS | Pathogenic | 21 | 38309141 | 38309141 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001352514.2(HLCS):c.1496T>A (p.Leu499Ter) | HLCS | Pathogenic | 21 | 38302675 | 38302675 | A | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg) | HLCS | Likely pathogenic | 21 | 38309035 | 38309035 | A | C | criteria provided, single submitter | - |
Duplication | NM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter) | HLCS | Pathogenic | 21 | 38309160 | 38309161 | A | AT | criteria provided, single submitter | - |