Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000152.5(GAA):c.736del (p.Leu246fs) | GAA | Likely pathogenic | 17 | 78081398 | 78081398 | TC | T | reviewed by expert panel | ClinGen:CA10606113 |
single nucleotide variant | NM_000152.5(GAA):c.1841C>T (p.Thr614Met) | GAA | Likely pathogenic | 17 | 78086463 | 78086463 | C | T | reviewed by expert panel | ClinGen:CA8815496 |
single nucleotide variant | NM_000152.5(GAA):c.2799+4A>G | GAA | Likely pathogenic | 17 | 78092608 | 78092608 | A | G | reviewed by expert panel | ClinGen:CA8815855 |
single nucleotide variant | NM_000152.5(GAA):c.841C>T (p.Arg281Trp) | GAA | Likely pathogenic | 17 | 78081504 | 78081504 | C | T | reviewed by expert panel | ClinGen:CA8815025 |
single nucleotide variant | NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) | GAA | Likely pathogenic | 17 | 78082336 | 78082336 | G | T | reviewed by expert panel | UniProtKB:P10253#VAR_046469,ClinGen:CA8815178 |
single nucleotide variant | NM_000152.5(GAA):c.853C>T (p.Pro285Ser) | GAA | Likely pathogenic | 17 | 78081516 | 78081516 | C | T | reviewed by expert panel | ClinGen:CA10603793,UniProtKB:P10253#VAR_068582 |
single nucleotide variant | NM_000152.5(GAA):c.1194+3G>C | GAA | Likely pathogenic | 17 | 78082409 | 78082409 | G | C | reviewed by expert panel | ClinGen:CA247031 |
single nucleotide variant | NM_000152.5(GAA):c.2646+2T>A | GAA | Likely pathogenic | 17 | 78092158 | 78092158 | T | A | reviewed by expert panel | ClinGen:CA274134 |
single nucleotide variant | NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) | GAA | Likely pathogenic | 17 | 78086465 | 78086465 | G | A | reviewed by expert panel | ClinGen:CA273955,UniProtKB:P10253#VAR_008690 |
single nucleotide variant | NM_000152.5(GAA):c.1437G>A (p.Lys479=) | GAA | Likely pathogenic | 17 | 78083854 | 78083854 | G | A | criteria provided, single submitter | ClinGen:CA275914 |