Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NC_000019.10:g.(?_11113272)_(11120528_?)del | LDLR | Pathogenic | 19 | 11223948 | 11231204 | na | na | criteria provided, single submitter | - |
Duplication | NC_000019.9:g.(?_11223934)_(11227694_?)dup | LDLR | Pathogenic | 19 | 11223934 | 11227694 | na | na | criteria provided, single submitter | - |
Deletion | NC_000019.10:g.(?_11102644)_(11107534_?)del | LDLR | Pathogenic | 19 | 11213320 | 11218210 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000527.5(LDLR):c.1118G>C (p.Gly373Ala) | LDLR | Likely pathogenic | 19 | 11222247 | 11222247 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000527.5(LDLR):c.974G>T (p.Cys325Phe) | LDLR | Likely pathogenic | 19 | 11221361 | 11221361 | G | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000019.10:g.(?_11127988)_(11128105_?)del | LDLR | Pathogenic | 19 | 11238664 | 11238781 | na | na | criteria provided, single submitter | - |
Deletion | NC_000019.10:g.(?_11123154)_(11131359_?)del | LDLR | Pathogenic | 19 | 11233830 | 11242035 | na | na | criteria provided, single submitter | - |
Deletion | NC_000019.10:g.(?_11120072)_(11120608_?)del | LDLR | Pathogenic | 19 | 11230748 | 11231284 | na | na | criteria provided, single submitter | - |
copy number gain | GRCh37/hg19 19p13.2(chr19:11210898-11218191)x3 | LDLR | Likely pathogenic | 19 | 11210898 | 11218191 | na | na | criteria provided, single submitter | - |
copy number loss | GRCh38/hg38 19p13.2(chr19:11100222-11102787)x1 | LDLR | Pathogenic | 19 | 11210898 | 11213463 | na | na | criteria provided, single submitter | - |