Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NC_000001.11:g.(?_156134393)_(156134538_?)del | LMNA | Likely pathogenic | 1 | 156104184 | 156104329 | na | na | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_156114909)_(156115284_?)del | LMNA | Pathogenic | 1 | 156084700 | 156085075 | na | na | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_156134393)_(156139116_?)del | LMNA | Pathogenic | 1 | 156104184 | 156108907 | na | na | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_156134383)_(156134548_?)del | LMNA | Likely pathogenic | 1 | 156104174 | 156104339 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_170707.4(LMNA):c.640-2A>G | LMNA | Likely pathogenic | 1 | 156104594 | 156104594 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_170707.4(LMNA):c.357-2A>G | LMNA | Pathogenic | 1 | 156100406 | 156100406 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_170707.4(LMNA):c.811-1G>A | LMNA | Likely pathogenic | 1 | 156104977 | 156104977 | G | A | criteria provided, single submitter | - |
Deletion | NC_000006.12:g.(?_118548061)_(118559090_?)del | PLN | Pathogenic | 6 | 118869224 | 118880253 | na | na | criteria provided, single submitter | - |
Deletion | NC_000006.12:g.(?_7541896)_(7585898_?)del | DSP | Pathogenic | 6 | 7542129 | 7586131 | na | na | criteria provided, single submitter | - |
Deletion | NC_000006.12:g.(?_7541906)_(7585888_?)del | DSP | Pathogenic | 6 | 7542139 | 7586121 | na | na | criteria provided, single submitter | - |