single nucleotide variant | NM_000344.4(SMN1):c.5C>T (p.Ala2Val) | SMN1 | Likely pathogenic | 5 | 70220935 | 70220935 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000344.4(SMN1):c.835-1G>A | SMN1 | Pathogenic | 5 | 70247767 | 70247767 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000344.4(SMN1):c.835-2A>T | SMN1 | Likely pathogenic | 5 | 70247766 | 70247766 | A | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000344.4(SMN1):c.835-2A>G | SMN1 | Pathogenic/Likely pathogenic | 5 | 70247766 | 70247766 | A | G | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000344.4(SMN1):c.770_780dup (p.Gly261fs) | SMN1 | Pathogenic | 5 | 70241936 | 70241937 | A | ATGCTGATGCTT | criteria provided, multiple submitters, no conflicts | OMIM:600354.0001 |
single nucleotide variant | NM_000344.4(SMN1):c.460C>T (p.Gln154Ter) | SMN1 | Likely pathogenic | 5 | 70238371 | 70238371 | C | T | criteria provided, single submitter | - |
Duplication | NM_000344.4(SMN1):c.109dup (p.Thr37fs) | SMN1 | Likely pathogenic | 5 | 70234692 | 70234693 | T | TA | criteria provided, single submitter | - |
Deletion | NC_000005.10:g.(?_70951941)_(70951991_?)del | SMN1 | Pathogenic | 5 | 70247768 | 70247818 | na | na | criteria provided, single submitter | - |
Deletion | NM_000344.4(SMN1):c.835-21_*3+17del | SMN1 | Pathogenic | 5 | 70247747 | 70247838 | ACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT | A | 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 |