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 | - |
single nucleotide variant | NM_005609.4(PYGM):c.1A>C (p.Met1Leu) | PYGM | Pathogenic | 11 | 64527370 | 64527370 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA270754,OMIM:608455.0004 |
single nucleotide variant | NM_005609.4(PYGM):c.1A>G (p.Met1Val) | PYGM | Pathogenic/Likely pathogenic | 11 | 64527370 | 64527370 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA252209,OMIM:608455.0012 |
Deletion | NM_005609.4(PYGM):c.13_14del (p.Leu5fs) | PYGM | Pathogenic | 11 | 64527357 | 64527358 | CAG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA6080393 |
Duplication | NM_005609.4(PYGM):c.21_28dup (p.Lys10fs) | PYGM | Pathogenic/Likely pathogenic | 11 | 64527342 | 64527343 | T | TTCTCTTGG | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_005609.4(PYGM):c.78_79del (p.Glu27fs) | PYGM | Pathogenic/Likely pathogenic | 11 | 64527292 | 64527293 | TCA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA273947 |
single nucleotide variant | NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) | PYGM | Pathogenic | 11 | 64527223 | 64527223 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA222884,OMIM:608455.0001 |
single nucleotide variant | NM_005609.4(PYGM):c.152A>G (p.Asp51Gly) | PYGM | Likely pathogenic | 11 | 64527219 | 64527219 | T | C | criteria provided, single submitter | ClinGen:CA261238,OMIM:608455.0020 |
Deletion | NM_005609.4(PYGM):c.198del (p.Arg67fs) | PYGM | Likely pathogenic | 11 | 64527173 | 64527173 | GC | G | criteria provided, single submitter | - |
single nucleotide variant | NM_005609.4(PYGM):c.204G>A (p.Trp68Ter) | PYGM | Likely pathogenic | 11 | 64527167 | 64527167 | C | T | criteria provided, single submitter | ClinGen:CA16041507 |