single nucleotide variant | NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro) | LDLR | Likely pathogenic | 19 | 11221436 | 11221436 | G | C | reviewed by expert panel | ClinGen:CA10576296,LDLR-LOVD, British Heart Foundation:LDLR_001337,UniProtKB:P01130#VAR_005368 |
single nucleotide variant | NM_000527.5(LDLR):c.1217G>C (p.Arg406Pro) | LDLR | Likely pathogenic | 19 | 11223984 | 11223984 | G | C | reviewed by expert panel | ClinGen:CA10576302,LDLR-LOVD, British Heart Foundation:LDLR_000651 |
single nucleotide variant | NM_000527.5(LDLR):c.1330T>C (p.Ser444Pro) | LDLR | Likely pathogenic | 19 | 11224097 | 11224097 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576304,LDLR-LOVD, British Heart Foundation:LDLR_001052 |
single nucleotide variant | NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr) | LDLR | Likely pathogenic | 19 | 11227564 | 11227564 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576317,LDLR-LOVD, British Heart Foundation:LDLR_000561,UniProtKB:P01130#VAR_062382 |
single nucleotide variant | NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro) | LDLR | Likely pathogenic | 19 | 11227643 | 11227643 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576320,LDLR-LOVD, British Heart Foundation:LDLR_000746 |
single nucleotide variant | NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) | LDLR | Likely pathogenic | 19 | 11230877 | 11230877 | T | C | reviewed by expert panel | ClinGen:CA10576326,LDLR-LOVD, British Heart Foundation:LDLR_000266 |
single nucleotide variant | NM_000527.5(LDLR):c.2030G>T (p.Cys677Phe) | LDLR | Likely pathogenic | 19 | 11231088 | 11231088 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576328,LDLR-LOVD, British Heart Foundation:LDLR_000659 |
single nucleotide variant | NM_000527.5(LDLR):c.2140G>C (p.Glu714Gln) | LDLR | Likely pathogenic | 19 | 11231198 | 11231198 | G | C | criteria provided, single submitter | ClinGen:CA10576329,LDLR-LOVD, British Heart Foundation:LDLR_001611 |
single nucleotide variant | NM_000527.5(LDLR):c.2483A>C (p.Tyr828Ser) | LDLR | Likely pathogenic | 19 | 11240282 | 11240282 | A | C | criteria provided, single submitter | ClinGen:CA10576335,LDLR-LOVD, British Heart Foundation:LDLR_001659 |
single nucleotide variant | NM_000384.3(APOB):c.631C>T (p.Gln211Ter) | APOB | Likely pathogenic | 2 | 21260034 | 21260034 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576587 |