Indel | NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer) | HLCS | Likely pathogenic | 21 | 38309601 | 38309617 | AGAAGGTTCAGGCTTCG | CCTTAATCTCAGGCTTAATCTCAAGCAA | criteria provided, multiple submitters, no conflicts | ClinGen:CA16620991 |
single nucleotide variant | NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter) | HLCS | Pathogenic | 21 | 38309522 | 38309522 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001352514.2(HLCS):c.691G>T (p.Glu231Ter) | HLCS | Pathogenic | 21 | 38309495 | 38309495 | C | A | criteria provided, single submitter | - |
Deletion | NM_001352514.2(HLCS):c.712_713del (p.Arg238fs) | HLCS | Likely pathogenic | 21 | 38309473 | 38309474 | CCT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter) | HLCS | Likely pathogenic | 21 | 38309329 | 38309329 | A | T | criteria provided, single submitter | ClinGen:CA10020687 |
Duplication | NM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter) | HLCS | Pathogenic | 21 | 38309160 | 38309161 | A | AT | 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.1088T>G (p.Leu363Arg) | HLCS | Pathogenic/Likely pathogenic | 21 | 38309098 | 38309098 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA278025,UniProtKB:P50747#VAR_021218,OMIM:609018.0009 |
Duplication | NM_001352514.2(HLCS):c.1096dup (p.Ile366fs) | HLCS | Pathogenic | 21 | 38309089 | 38309090 | A | AT | criteria provided, single submitter | ClinGen:CA278024,OMIM:609018.0008 |
single nucleotide variant | NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg) | HLCS | Likely pathogenic | 21 | 38309035 | 38309035 | A | C | criteria provided, single submitter | - |