Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_004369.4(COL6A3):c.1699C>T (p.Gln567Ter) | COL6A3 | Pathogenic | 2 | 238289756 | 238289756 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter) | COL6A3 | Pathogenic | 2 | 238290062 | 238290062 | G | A | criteria provided, single submitter | ClinGen:CA257715,OMIM:120250.0003 |
Deletion | NM_004369.4(COL6A3):c.761del (p.Gly254fs) | COL6A3 | Pathogenic/Likely pathogenic | 2 | 238296776 | 238296776 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA2189782 |
single nucleotide variant | NM_004369.4(COL6A3):c.749C>A (p.Ser250Ter) | COL6A3 | Likely pathogenic | 2 | 238296788 | 238296788 | G | T | criteria provided, single submitter | ClinGen:CA351224129 |
single nucleotide variant | NM_004369.4(COL6A3):c.76C>T (p.Gln26Ter) | COL6A3 | Pathogenic | 2 | 238305385 | 238305385 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA2189961 |