Deletion | NC_000017.11:g.(?_80118183)_(80118367_?)del | GAA | Pathogenic | 17 | 78091982 | 78092166 | na | na | criteria provided, single submitter | - |
Deletion | NM_000152.5(GAA):c.2481+110_2646+39del | GAA | Pathogenic | 17 | 78091650 | 78092187 | GAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGC | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000152.5(GAA):c.1438-1G>T | GAA | Pathogenic/Likely pathogenic | 17 | 78084525 | 78084525 | G | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) | GAA | Pathogenic | 17 | 78091450 | 78091450 | G | T | reviewed by expert panel | - |
single nucleotide variant | NM_000152.5(GAA):c.1941C>A (p.Cys647Ter) | GAA | Likely pathogenic | 17 | 78086727 | 78086727 | C | A | reviewed by expert panel | - |
single nucleotide variant | NM_000152.5(GAA):c.1798C>T (p.Arg600Cys) | GAA | Pathogenic | 17 | 78086420 | 78086420 | C | T | reviewed by expert panel | - |
single nucleotide variant | NM_000152.5(GAA):c.1585T>C (p.Ser529Pro) | GAA | Pathogenic | 17 | 78084773 | 78084773 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000152.5(GAA):c.1210G>A (p.Asp404Asn) | GAA | Pathogenic | 17 | 78082511 | 78082511 | G | A | reviewed by expert panel | - |
Deletion | NM_000152.5(GAA):c.806_830del (p.Leu269fs) | GAA | Likely pathogenic | 17 | 78081468 | 78081492 | GCTCAGCACCAGCTGGACCAGGATCA | G | reviewed by expert panel | - |
single nucleotide variant | NM_000152.5(GAA):c.671G>A (p.Arg224Gln) | GAA | Pathogenic/Likely pathogenic | 17 | 78079672 | 78079672 | G | A | criteria provided, multiple submitters, no conflicts | - |