Deletion | NC_000019.10:g.(?_11100213)_(11117013_?)del | LDLR | Pathogenic | 19 | 11210889 | 11227689 | na | na | criteria provided, single submitter | - |
Deletion | NC_000019.10:g.(?_11100203)_(11107534_?)del | LDLR | Pathogenic | 19 | 11210879 | 11218210 | na | na | criteria provided, single submitter | - |
Duplication | NM_000527.5(LDLR):c.1647dup (p.Val550fs) | LDLR | Pathogenic | 19 | 11226829 | 11226830 | G | GT | criteria provided, single submitter | - |
Duplication | NM_000527.5(LDLR):c.1459_1472dup (p.Asp492fs) | LDLR | Pathogenic | 19 | 11224309 | 11224310 | G | GCAACATCTACTGGA | criteria provided, single submitter | - |
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 | - |