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 |
Duplication | NM_005609.4(PYGM):c.1466dup (p.Arg490fs) | PYGM | Pathogenic | 11 | 64520596 | 64520597 | A | AG | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603264 |
Indel | NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs) | PYGM | Likely pathogenic | 11 | 64519965 | 64519968 | CTCC | TCA | criteria provided, single submitter | ClinGen:CA16041500 |
single nucleotide variant | NM_005609.4(PYGM):c.1561A>T (p.Lys521Ter) | PYGM | Pathogenic | 11 | 64519934 | 64519934 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) | PYGM | Pathogenic/Likely pathogenic | 11 | 64519536 | 64519536 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA339963,UniProtKB:P11217#VAR_003433,OMIM:608455.0003 |
Deletion | NM_005609.4(PYGM):c.1680del (p.Asn561fs) | PYGM | Likely pathogenic | 11 | 64519484 | 64519484 | TG | T | criteria provided, single submitter | ClinGen:CA16041499 |
single nucleotide variant | NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter) | PYGM | Likely pathogenic | 11 | 64519447 | 64519447 | C | A | criteria provided, single submitter | ClinGen:CA6079772 |
single nucleotide variant | NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter) | PYGM | Likely pathogenic | 11 | 64519442 | 64519442 | A | C | criteria provided, single submitter | OMIM:608455.0017,ClinGen:CA252213 |
single nucleotide variant | NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) | PYGM | Pathogenic/Likely pathogenic | 11 | 64519438 | 64519438 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA252206,OMIM:608455.0009 |