Deletion | NM_000527.5(LDLR):c.244_246del (p.Cys82del) | LDLR | Likely pathogenic | 19 | 11213391 | 11213393 | CGCT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000527.5(LDLR):c.30G>A (p.Trp10Ter) | LDLR | Pathogenic | 19 | 11200254 | 11200254 | G | A | criteria provided, single submitter | - |
Deletion | NM_000527.5(LDLR):c.772del (p.Glu258fs) | LDLR | Likely pathogenic | 19 | 11217316 | 11217316 | CG | C | criteria provided, single submitter | - |
Deletion | NM_000527.5(LDLR):c.1011_1025del (p.Glu337_Pro341del) | LDLR | Likely pathogenic | 19 | 11221395 | 11221409 | ACGAGTGCCTGTGCCC | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000527.5(LDLR):c.694+1G>C | LDLR | Pathogenic | 19 | 11216277 | 11216277 | G | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000527.5(LDLR):c.1851del (p.Val618fs) | LDLR | Pathogenic | 19 | 11230771 | 11230771 | CA | C | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000527.5(LDLR):c.1595_1596dup (p.Trp533fs) | LDLR | Pathogenic | 19 | 11226777 | 11226778 | T | TAC | criteria provided, single submitter | - |
single nucleotide variant | NM_000527.5(LDLR):c.1209C>A (p.Phe403Leu) | LDLR | Pathogenic | 19 | 11223976 | 11223976 | C | A | criteria provided, single submitter | - |
Indel | NM_000527.5(LDLR):c.996_1009delinsGCA (p.Lys333fs) | LDLR | Pathogenic | 19 | 11221383 | 11221396 | TAAGATCGGCTACG | GCA | criteria provided, single submitter | - |
Deletion | NC_000019.10:g.(?_11116074)_(11131359_?)del | LDLR | Pathogenic | 19 | 11226750 | 11242035 | na | na | criteria provided, single submitter | - |