single nucleotide variant | NM_000527.5(LDLR):c.1408A>T (p.Ser470Cys) | LDLR | Likely pathogenic | 19 | 11224260 | 11224260 | A | T | criteria provided, single submitter | - |
Deletion | NM_000527.5(LDLR):c.1382del (p.Gly461fs) | LDLR | Pathogenic | 19 | 11224233 | 11224233 | CG | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000527.5(LDLR):c.1092C>A (p.Cys364Ter) | LDLR | Pathogenic | 19 | 11222221 | 11222221 | C | A | criteria provided, single submitter | - |
Deletion | NM_000527.5(LDLR):c.1023del (p.Asp342fs) | LDLR | Pathogenic | 19 | 11221407 | 11221407 | GC | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000527.5(LDLR):c.832G>T (p.Gly278Ter) | LDLR | Pathogenic | 19 | 11218082 | 11218082 | G | T | criteria provided, single submitter | - |
Indel | NM_000527.5(LDLR):c.249delinsGG (p.Ile83fs) | LDLR | Pathogenic | 19 | 11213398 | 11213398 | T | GG | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000527.5(LDLR):c.41T>A (p.Leu14Ter) | LDLR | Pathogenic | 19 | 11200265 | 11200265 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000527.5(LDLR):c.973T>C (p.Cys325Arg) | LDLR | Likely pathogenic | 19 | 11221360 | 11221360 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000527.5(LDLR):c.922G>T (p.Glu308Ter) | LDLR | Pathogenic | 19 | 11218172 | 11218172 | G | T | criteria provided, single submitter | - |
Deletion | NM_000527.5(LDLR):c.505_511del (p.Asn169fs) | LDLR | Pathogenic | 19 | 11216086 | 11216092 | ACAACGAC | A | criteria provided, single submitter | - |