Deletion | NM_005609.4(PYGM):c.1044del (p.Glu349fs) | PYGM | Likely pathogenic | 11 | 64521773 | 64521773 | CG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_005609.4(PYGM):c.370G>T (p.Glu124Ter) | PYGM | Likely pathogenic | 11 | 64525963 | 64525963 | C | A | criteria provided, single submitter | - |
Deletion | NM_005609.4(PYGM):c.198del (p.Arg67fs) | PYGM | Likely pathogenic | 11 | 64527173 | 64527173 | GC | G | criteria provided, single submitter | - |
Deletion | NM_005609.4(PYGM):c.262_263del (p.Leu88fs) | PYGM | Likely pathogenic | 11 | 64526157 | 64526158 | TAA | T | criteria provided, single submitter | - |
single nucleotide variant | NM_005609.4(PYGM):c.660+1G>A | PYGM | Likely pathogenic | 11 | 64525250 | 64525250 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_005609.4(PYGM):c.1093-1G>T | PYGM | Likely pathogenic | 11 | 64521498 | 64521498 | C | A | criteria provided, single submitter | - |
Deletion | NM_005609.4(PYGM):c.219_220del (p.His74fs) | PYGM | Likely pathogenic | 11 | 64527151 | 64527152 | TGC | T | criteria provided, single submitter | - |
Deletion | NM_005609.4(PYGM):c.2319del (p.Val774fs) | PYGM | Likely pathogenic | 11 | 64514453 | 64514453 | CT | C | criteria provided, single submitter | - |
Duplication | NM_005609.4(PYGM):c.1403+2dup | PYGM | Likely pathogenic | 11 | 64520988 | 64520989 | C | CA | criteria provided, single submitter | - |
single nucleotide variant | NM_005609.4(PYGM):c.1456G>A (p.Gly486Ser) | PYGM | Likely pathogenic | 11 | 64520607 | 64520607 | C | T | criteria provided, single submitter | ClinGen:CA223899899 |