single nucleotide variant | NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) | GAA | Likely pathogenic | 17 | 78086454 | 78086454 | G | A | reviewed by expert panel | ClinGen:CA16041897 |
single nucleotide variant | NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) | GAA | Pathogenic/Likely pathogenic | 17 | 78086478 | 78086478 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA8815500 |
single nucleotide variant | NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) | GAA | Likely pathogenic | 17 | 78086801 | 78086801 | G | A | reviewed by expert panel | ClinGen:CA8815566 |
single nucleotide variant | NM_000152.5(GAA):c.2040+1G>T | GAA | Pathogenic/Likely pathogenic | 17 | 78086827 | 78086827 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041898 |
Deletion | NM_000152.5(GAA):c.2185del (p.Leu729fs) | GAA | Pathogenic | 17 | 78087160 | 78087160 | TC | T | reviewed by expert panel | ClinGen:CA16041899 |
single nucleotide variant | NM_000152.5(GAA):c.2213G>A (p.Trp738Ter) | GAA | Pathogenic/Likely pathogenic | 17 | 78090790 | 78090790 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041900 |
single nucleotide variant | NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) | GAA | Pathogenic | 17 | 78090791 | 78090791 | G | A | reviewed by expert panel | ClinGen:CA16041901 |
single nucleotide variant | NM_000152.5(GAA):c.2227C>T (p.Gln743Ter) | GAA | Pathogenic/Likely pathogenic | 17 | 78090804 | 78090804 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041902 |
single nucleotide variant | NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) | GAA | Pathogenic | 17 | 78090815 | 78090815 | G | A | reviewed by expert panel | ClinGen:CA8815666 |
single nucleotide variant | NM_000152.5(GAA):c.2242G>T (p.Glu748Ter) | GAA | Pathogenic | 17 | 78090819 | 78090819 | G | T | reviewed by expert panel | ClinGen:CA16041903 |