Deletion | NM_000527.4(LDLR):c.1988-?_2140+?del | LDLR | Pathogenic | 19 | 11120302 | 11120522 | na | na | criteria provided, single submitter | - |
Deletion | Single allele | LDLR | Likely pathogenic | 19 | 11188452 | 11204306 | na | na | criteria provided, single submitter | - |
Deletion | NM_000527.4(LDLR):c.-1823_190+566del | LDLR | Pathogenic | 19 | 11198402 | 11211587 | na | na | criteria provided, multiple submitters, no conflicts | LDLR-LOVD, British Heart Foundation:LDLR_000005 |
Deletion | NM_000527.4(LDLR):c.-229_-90del | LDLR | Pathogenic | 19 | 11199995 | 11200134 | ACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCC | A | criteria provided, single submitter | ClinGen:CA645373259 |
Duplication | c.(?_-187)_(67+1_68-1)dup | LDLR | Likely pathogenic | 19 | 11200038 | 11210898 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001273 |
Deletion | c.(?_-187)_(67+1_68-1)del | LDLR | Pathogenic | 19 | 11200038 | 11210898 | na | na | criteria provided, multiple submitters, no conflicts | LDLR-LOVD, British Heart Foundation:LDLR_000007 |
Deletion | c.(?_-187)_(940+1_941-1)del | LDLR | Pathogenic | 19 | 11200038 | 11221327 | na | na | criteria provided, multiple submitters, no conflicts | LDLR-LOVD, British Heart Foundation:LDLR_001274 |
Deletion | c.(?_-187)_(1060+1_1061-1)del | LDLR | Pathogenic | 19 | 11200038 | 11222189 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001271 |
Deletion | c.(?_-187)_(1186+1_1187-1)del | LDLR | Pathogenic | 19 | 11200038 | 11223953 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001091 |
Deletion | c.(?_-187)_(1845+1_1846-1)del | LDLR | Pathogenic | 19 | 11200038 | 11230767 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001167 |