Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000344.4(SMN1):c.835-1G>A | SMN1 | Pathogenic | 5 | 70247767 | 70247767 | G | A | criteria provided, single submitter | - |
Deletion | NC_000005.10:g.(?_70951941)_(70951991_?)del | SMN1 | Pathogenic | 5 | 70247768 | 70247818 | na | na | criteria provided, single submitter | - |
Duplication | NM_000344.4(SMN1):c.855dup (p.Glu286fs) | SMN1 | Likely pathogenic | 5 | 70247783 | 70247784 | C | CA | criteria provided, single submitter | ClinGen:CA658683392 |