Deletion | NM_000344.4(SMN1):c.835-21_*3+17del | SMN1 | Pathogenic | 5 | 70247747 | 70247838 | ACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT | A | criteria provided, single submitter | - |
Deletion | NC_000005.10:g.(?_70951921)_(70952011_?)del | SMN1 | Pathogenic | 5 | 70247748 | 70247838 | na | na | criteria provided, single submitter | - |
Deletion | NC_000005.10:g.(?_70951931)_(70952001_?)del | SMN1 | Pathogenic | 5 | 70247758 | 70247828 | na | na | 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 |
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 | - |
Deletion | NC_000005.10:g.70946066_70946176del | SMN1 | Pathogenic | 5 | 70241892 | 70242002 | AGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT | A | criteria provided, single submitter | ClinGen:CA645372410 |
single nucleotide variant | NM_000344.4(SMN1):c.824G>A (p.Gly275Asp) | SMN1 | Likely pathogenic | 5 | 70241993 | 70241993 | G | A | criteria provided, single submitter | - |