single nucleotide variant | NM_174936.4(PCSK9):c.1061A>T (p.Asn354Ile) | PCSK9 | Likely pathogenic | 1 | 55523068 | 55523068 | A | T | criteria provided, single submitter | ClinGen:CA340476503 |
single nucleotide variant | NM_174936.4(PCSK9):c.386A>G (p.Asp129Gly) | PCSK9 | Pathogenic/Likely pathogenic | 1 | 55509694 | 55509694 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA340483865 |
Insertion | NM_174936.4(PCSK9):c.42_43insTG (p.Leu15fs) | PCSK9 | Pathogenic | 1 | 55505552 | 55505553 | A | ATG | criteria provided, single submitter | ClinGen:CA645372371 |
single nucleotide variant | NM_174936.4(PCSK9):c.1120G>C (p.Asp374His) | PCSK9 | Pathogenic | 1 | 55523127 | 55523127 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588875,UniProtKB:Q8NBP7#VAR_058531 |
single nucleotide variant | NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr) | PCSK9 | Pathogenic/Likely pathogenic | 1 | 55523127 | 55523127 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA023106,UniProtKB:Q8NBP7#VAR_058532,OMIM:607786.0003 |
single nucleotide variant | NM_174936.4(PCSK9):c.381T>A (p.Ser127Arg) | PCSK9 | Pathogenic/Likely pathogenic | 1 | 55509689 | 55509689 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA023152,UniProtKB:Q8NBP7#VAR_017199,OMIM:607786.0001 |
Duplication | NM_015627.3(LDLRAP1):c.431dup (p.His144fs) | LDLRAP1 | Pathogenic | 1 | 25883729 | 25883730 | C | CA | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_015627.3(LDLRAP1):c.429C>A (p.Cys143Ter) | LDLRAP1 | Pathogenic | 1 | 25883728 | 25883728 | C | A | criteria provided, single submitter | - |
Deletion | NM_015627.3(LDLRAP1):c.71del (p.Gly24fs) | LDLRAP1 | Pathogenic | 1 | 25870254 | 25870254 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA521715353,OMIM:605747.0006 |
Duplication | NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs) | LDLRAP1 | Pathogenic | 1 | 25889626 | 25889627 | A | AC | criteria provided, multiple submitters, no conflicts | ClinGen:CA695637,OMIM:605747.0009 |