single nucleotide variant | NM_000152.5(GAA):c.877G>A (p.Gly293Arg) | GAA | Pathogenic | 17 | 78081617 | 78081617 | G | A | reviewed by expert panel | ClinGen:CA116622,UniProtKB:P10253#VAR_018082,OMIM:606800.0017 |
single nucleotide variant | NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) | GAA | Pathogenic | 17 | 78092070 | 78092070 | C | T | reviewed by expert panel | ClinGen:CA340130,OMIM:606800.0015 |
Deletion | NM_000152.5(GAA):c.525del (p.Glu176fs) | GAA | Pathogenic | 17 | 78078910 | 78078910 | CT | C | reviewed by expert panel | ClinGen:CA220406,OMIM:606800.0014 |
single nucleotide variant | NM_000152.5(GAA):c.1634C>T (p.Pro545Leu) | GAA | Pathogenic | 17 | 78084822 | 78084822 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA116616,UniProtKB:P10253#VAR_004297,OMIM:606800.0013 |
single nucleotide variant | NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) | GAA | Pathogenic | 17 | 78086721 | 78086721 | C | A | reviewed by expert panel | ClinGen:CA116610,UniProtKB:P10253#VAR_004302,OMIM:606800.0010 |
Deletion | NM_000152.5(GAA):c.2707_2709del (p.Lys903del) | GAA | Likely pathogenic | 17 | 78092510 | 78092512 | CAGA | C | criteria provided, single submitter | ClinGen:CA116607,OMIM:606800.0007 |
single nucleotide variant | NM_000152.5(GAA):c.-32-13T>G | GAA | Pathogenic | 17 | 78078341 | 78078341 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA116606,OMIM:606800.0006 |
single nucleotide variant | NM_000152.5(GAA):c.896T>G (p.Leu299Arg) | GAA | Likely pathogenic | 17 | 78081636 | 78081636 | T | G | reviewed by expert panel | UniProtKB:P10253#VAR_004288,OMIM:606800.0008,ClinGen:CA116601 |
single nucleotide variant | NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) | GAA | Pathogenic | 17 | 78087149 | 78087149 | C | T | criteria provided, multiple submitters, no conflicts | OMIM:606800.0005,ClinGen:CA116598,UniProtKB:P10253#VAR_004310 |
single nucleotide variant | NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) | GAA | Pathogenic | 17 | 78086713 | 78086713 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA116596,UniProtKB:P10253#VAR_004301,OMIM:606800.0004 |