Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000344.3(SMN1):c.274_284del11 | SMN1 | Pathogenic | 5 | 70238184 | 70238194 | AGTGGAAAGTTG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000344.4(SMN1):c.724-2A>G | SMN1 | Pathogenic | 5 | 70241891 | 70241891 | A | G | criteria provided, single submitter | - |
Deletion | NC_000005.10:g.(?_70951931)_(70952001_?)del | SMN1 | Pathogenic | 5 | 70247758 | 70247828 | na | na | criteria provided, single submitter | - |