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 | - |
single nucleotide variant | NM_005609.4(PYGM):c.1A>T (p.Met1Leu) | PYGM | Pathogenic | 11 | 64527370 | 64527370 | T | A | criteria provided, multiple submitters, no conflicts | - |
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 | - |
single nucleotide variant | NM_005609.4(PYGM):c.2380-1G>A | PYGM | Pathogenic/Likely pathogenic | 11 | 64514281 | 64514281 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg) | PYGM | Pathogenic/Likely pathogenic | 11 | 64521049 | 64521049 | C | T | criteria provided, multiple submitters, no conflicts | - |
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.2392T>A (p.Trp798Arg) | PYGM | Pathogenic | 11 | 64514268 | 64514268 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA6079524 |
Duplication | NM_005609.4(PYGM):c.501dup (p.Asn168Ter) | PYGM | Pathogenic | 11 | 64525744 | 64525745 | T | TA | criteria provided, single submitter | ClinGen:CA474959930 |