single nucleotide variant | NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser) | PYROXD1 | Pathogenic | 12 | 21605064 | 21605064 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA6478220,OMIM:617220.0003 |
single nucleotide variant | NM_024854.5(PYROXD1):c.1116G>C (p.Gln372His) | PYROXD1 | Pathogenic | 12 | 21615796 | 21615796 | G | C | criteria provided, single submitter | ClinGen:CA16042280,OMIM:617220.0002 |
single nucleotide variant | NM_024854.5(PYROXD1):c.285+1G>A | PYROXD1 | Pathogenic/Likely pathogenic | 12 | 21598401 | 21598401 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA6478154,OMIM:617220.0001 |
single nucleotide variant | NM_001289808.2(CRYAB):c.326A>G (p.Asp109Gly) | CRYAB | Likely pathogenic | 11 | 111779690 | 111779690 | T | C | criteria provided, single submitter | ClinGen:CA382596838 |
single nucleotide variant | NM_001289808.2(CRYAB):c.320G>T (p.Arg107Leu) | CRYAB | Pathogenic | 11 | 111781055 | 111781055 | C | A | criteria provided, single submitter | ClinGen:CA250008 |
single nucleotide variant | NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp) | CRYAB | Likely pathogenic | 11 | 111782283 | 111782283 | G | A | criteria provided, single submitter | ClinGen:CA130927,OMIM:123590.0010 |
Deletion | NM_001289808.2(CRYAB):c.343del (p.Ser115fs) | CRYAB | Pathogenic/Likely pathogenic | 11 | 111779673 | 111779673 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA308250 |
Deletion | NC_000010.11:g.(?_119676454)_(119677500_?)del | BAG3 | Pathogenic | 10 | 121435966 | 121437012 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_004281.4(BAG3):c.625C>T (p.Pro209Ser) | BAG3 | Pathogenic/Likely pathogenic | 10 | 121431884 | 121431884 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004281.4(BAG3):c.514C>T (p.Gln172Ter) | BAG3 | Pathogenic | 10 | 121431773 | 121431773 | C | T | criteria provided, single submitter | - |