single nucleotide variant | NM_005609.4(PYGM):c.1768+1G>A | PYGM | Pathogenic/Likely pathogenic | 11 | 64519395 | 64519395 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA275011,OMIM:608455.0007 |
single nucleotide variant | NM_005609.4(PYGM):c.1768+2T>G | PYGM | Pathogenic/Likely pathogenic | 11 | 64519394 | 64519394 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA6079760 |
Deletion | NM_005609.4(PYGM):c.1797del (p.Phe599fs) | PYGM | Pathogenic/Likely pathogenic | 11 | 64519099 | 64519099 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA273986 |
single nucleotide variant | NM_005609.4(PYGM):c.1827G>A (p.Lys609=) | PYGM | Pathogenic/Likely pathogenic | 11 | 64519069 | 64519069 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA339964,OMIM:608455.0016 |
single nucleotide variant | NM_005609.4(PYGM):c.1827+1G>C | PYGM | Likely pathogenic | 11 | 64519068 | 64519068 | C | G | criteria provided, single submitter | ClinGen:CA16041498 |
single nucleotide variant | NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter) | PYGM | Pathogenic | 11 | 64518818 | 64518818 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA6079669 |
single nucleotide variant | NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys) | PYGM | Likely pathogenic | 11 | 64518803 | 64518803 | C | T | criteria provided, single submitter | ClinGen:CA252200,UniProtKB:P11217#VAR_003434,OMIM:608455.0005 |
single nucleotide variant | NM_005609.4(PYGM):c.1969+1G>T | PYGM | Likely pathogenic | 11 | 64518796 | 64518796 | C | A | criteria provided, single submitter | ClinGen:CA16041497 |
single nucleotide variant | NM_005609.4(PYGM):c.1970-2A>T | PYGM | Pathogenic/Likely pathogenic | 11 | 64518057 | 64518057 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16621622 |
single nucleotide variant | NM_005609.4(PYGM):c.1970-1G>A | PYGM | Likely pathogenic | 11 | 64518056 | 64518056 | C | T | criteria provided, single submitter | ClinGen:CA16041496 |