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_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_007078.3(LDB3):c.686G>T (p.Gly229Val) | LDB3 | Likely pathogenic | 10 | 88441557 | 88441557 | G | T | criteria provided, single submitter | ClinGen:CA377455773 |
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 |
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 |
single nucleotide variant | NM_004281.4(BAG3):c.20C>A (p.Ser7Ter) | BAG3 | Likely pathogenic | 10 | 121411207 | 121411207 | C | A | criteria provided, single submitter | - |
Deletion | NM_004281.4(BAG3):c.72del (p.Gly25fs) | BAG3 | Pathogenic/Likely pathogenic | 10 | 121411254 | 121411254 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA273126 |