Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000152.5(GAA):c.-32-1G>C | GAA | Likely pathogenic | 17 | 78078353 | 78078353 | G | C | reviewed by expert panel | - |
Deletion | NM_000152.5(GAA):c.55del (p.Val19fs) | GAA | Likely pathogenic | 17 | 78078440 | 78078440 | CG | C | reviewed by expert panel | - |
Deletion | NM_000152.5(GAA):c.376del (p.Trp126fs) | GAA | Likely pathogenic | 17 | 78078761 | 78078761 | CT | C | reviewed by expert panel | - |
single nucleotide variant | NM_000152.5(GAA):c.953T>A (p.Met318Lys) | GAA | Likely pathogenic | 17 | 78081693 | 78081693 | T | A | reviewed by expert panel | - |
Deletion | NM_000152.5(GAA):c.1165del (p.Glu389fs) | GAA | Pathogenic/Likely pathogenic | 17 | 78082376 | 78082376 | TG | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) | GAA | Pathogenic/Likely pathogenic | 17 | 78083849 | 78083849 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000152.5(GAA):c.1551+1G>C | GAA | Pathogenic/Likely pathogenic | 17 | 78084640 | 78084640 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000152.5(GAA):c.1552-2A>G | GAA | Likely pathogenic | 17 | 78084738 | 78084738 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) | GAA | Likely pathogenic | 17 | 78085814 | 78085814 | A | T | reviewed by expert panel | - |
single nucleotide variant | NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) | GAA | Likely pathogenic | 17 | 78086418 | 78086418 | C | A | reviewed by expert panel | - |