single nucleotide variant | NM_000527.5(LDLR):c.1A>C (p.Met1Leu) | LDLR | Pathogenic | 19 | 11200225 | 11200225 | A | C | reviewed by expert panel | ClinGen:CA10584718,LDLR-LOVD, British Heart Foundation:LDLR_000356 |
single nucleotide variant | NM_000527.5(LDLR):c.1A>G (p.Met1Val) | LDLR | Likely pathogenic | 19 | 11200225 | 11200225 | A | G | reviewed by expert panel | ClinGen:CA10584719,LDLR-LOVD, British Heart Foundation:LDLR_000328 |
single nucleotide variant | NM_000527.5(LDLR):c.1A>T (p.Met1Leu) | LDLR | Pathogenic | 19 | 11200225 | 11200225 | A | T | reviewed by expert panel | ClinGen:CA10584720,LDLR-LOVD, British Heart Foundation:LDLR_000445 |
single nucleotide variant | NM_000527.5(LDLR):c.2T>C (p.Met1Thr) | LDLR | Likely pathogenic | 19 | 11200226 | 11200226 | T | C | reviewed by expert panel | ClinGen:CA404071092 |
Deletion | NM_000527.5(LDLR):c.6del (p.Trp4fs) | LDLR | Pathogenic | 19 | 11200227 | 11200227 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576266,LDLR-LOVD, British Heart Foundation:LDLR_001825 |
single nucleotide variant | NM_000527.5(LDLR):c.3G>T (p.Met1Ile) | LDLR | Likely pathogenic | 19 | 11200227 | 11200227 | G | T | reviewed by expert panel | ClinGen:CA10584721,LDLR-LOVD, British Heart Foundation:LDLR_000316 |
single nucleotide variant | NM_000527.5(LDLR):c.3G>A (p.Met1Ile) | LDLR | Likely pathogenic | 19 | 11200227 | 11200227 | G | A | reviewed by expert panel | ClinGen:CA404071097 |
Deletion | NM_000527.5(LDLR):c.9del (p.Trp4fs) | LDLR | Pathogenic | 19 | 11200231 | 11200231 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584723,LDLR-LOVD, British Heart Foundation:LDLR_001899 |
single nucleotide variant | NM_000527.5(LDLR):c.11G>A (p.Trp4Ter) | LDLR | Pathogenic | 19 | 11200235 | 11200235 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584724,LDLR-LOVD, British Heart Foundation:LDLR_001492 |
single nucleotide variant | NM_000527.5(LDLR):c.12G>A (p.Trp4Ter) | LDLR | Pathogenic | 19 | 11200236 | 11200236 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA085131,LDLR-LOVD, British Heart Foundation:LDLR_000357 |