Deletion | NM_000527.5(LDLR):c.905del (p.Cys302fs) | LDLR | Pathogenic/Likely pathogenic | 19 | 11218155 | 11218155 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10654847 |
Deletion | NM_000527.5(LDLR):c.820del (p.Thr274fs) | LDLR | Pathogenic/Likely pathogenic | 19 | 11218070 | 11218070 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA029718 |
single nucleotide variant | NM_000527.5(LDLR):c.695-1G>A | LDLR | Pathogenic/Likely pathogenic | 19 | 11217240 | 11217240 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10654846 |
single nucleotide variant | NM_000527.5(LDLR):c.520G>T (p.Glu174Ter) | LDLR | Pathogenic/Likely pathogenic | 19 | 11216102 | 11216102 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA043837 |
Deletion | NM_000527.5(LDLR):c.467del (p.Asn156fs) | LDLR | Pathogenic/Likely pathogenic | 19 | 11216048 | 11216048 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10654845 |
single nucleotide variant | NM_000527.5(LDLR):c.428G>C (p.Cys143Ser) | LDLR | Pathogenic/Likely pathogenic | 19 | 11216010 | 11216010 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10654844 |
Deletion | NM_000527.5(LDLR):c.340_344del (p.Phe114fs) | LDLR | Pathogenic/Likely pathogenic | 19 | 11215921 | 11215925 | AGTTTC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10654842 |
Deletion | NM_000527.5(LDLR):c.233del (p.Arg78fs) | LDLR | Pathogenic/Likely pathogenic | 19 | 11213382 | 11213382 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10654840 |
single nucleotide variant | NM_000527.5(LDLR):c.68-1G>A | LDLR | Pathogenic/Likely pathogenic | 19 | 11210898 | 11210898 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10654839 |
Deletion | c.(1060+1_1061-1)_(1186+1_1187-1)del | LDLR | Pathogenic/Likely pathogenic | 19 | 11221448 | 11223953 | na | na | criteria provided, multiple submitters, no conflicts | LDLR-LOVD, British Heart Foundation:LDLR_001097 |