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.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 |
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 |
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_000163.5(GHR):c.945G>A (p.Lys315=) | GHR | Pathogenic | 5 | 42718223 | 42718223 | G | A | criteria provided, single submitter | ClinGen:CA443805565 |
single nucleotide variant | NM_000163.5(GHR):c.703C>T (p.Arg235Ter) | GHR | Pathogenic | 5 | 42711393 | 42711393 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA119802,OMIM:600946.0009 |
single nucleotide variant | NM_000163.5(GHR):c.618+792A>G | GHR | Pathogenic | 5 | 42700896 | 42700896 | A | G | criteria provided, single submitter | OMIM:600946.0025 |
single nucleotide variant | NM_000163.5(GHR):c.594A>G (p.Glu198=) | GHR | Pathogenic | 5 | 42700080 | 42700080 | A | G | criteria provided, single submitter | ClinGen:CA119795,OMIM:600946.0005 |