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 |
single nucleotide variant | NM_005609.4(PYGM):c.217C>T (p.Gln73Ter) | PYGM | Likely pathogenic | 11 | 64527154 | 64527154 | G | A | criteria provided, single submitter | ClinGen:CA16041506 |
single nucleotide variant | NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter) | PYGM | Pathogenic/Likely pathogenic | 11 | 64526168 | 64526168 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041505 |
Deletion | NM_005609.4(PYGM):c.253del (p.Tyr85fs) | PYGM | Likely pathogenic | 11 | 64526167 | 64526167 | TA | T | criteria provided, single submitter | ClinGen:CA16041504 |
Deletion | NM_005609.4(PYGM):c.251_261del (p.Tyr84fs) | PYGM | Pathogenic/Likely pathogenic | 11 | 64526159 | 64526169 | AAGACAGGTAGT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041503 |
single nucleotide variant | NM_005609.4(PYGM):c.425-2A>G | PYGM | Likely pathogenic | 11 | 64525823 | 64525823 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA6080246 |
Deletion | NM_005609.4(PYGM):c.445_448del (p.Ala149fs) | PYGM | Likely pathogenic | 11 | 64525798 | 64525801 | GTTGC | G | criteria provided, single submitter | ClinGen:CA16041502 |
single nucleotide variant | NM_005609.4(PYGM):c.528+2T>G | PYGM | Likely pathogenic | 11 | 64525716 | 64525716 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041501 |
single nucleotide variant | NM_005609.4(PYGM):c.1092+1G>A | PYGM | Likely pathogenic | 11 | 64521724 | 64521724 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA6080017 |
Indel | NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs) | PYGM | Likely pathogenic | 11 | 64519965 | 64519968 | CTCC | TCA | criteria provided, single submitter | ClinGen:CA16041500 |