Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000090.4(COL3A1):c.4096C>T (p.Gln1366Ter) | COL3A1 | Likely pathogenic | 2 | 189875458 | 189875458 | C | T | criteria provided, single submitter | ClinGen:CA320388 |
single nucleotide variant | NM_000090.4(COL3A1):c.4175T>G (p.Leu1392Arg) | COL3A1 | Likely pathogenic | 2 | 189875537 | 189875537 | T | G | criteria provided, single submitter | ClinGen:CA349849556 |
Deletion | NM_000090.4(COL3A1):c.4180_4189del (p.Gly1394fs) | COL3A1 | Pathogenic | 2 | 189875539 | 189875548 | GATGGGGTCAA | G | criteria provided, single submitter | ClinGen:CA006841 |
single nucleotide variant | NM_000090.4(COL3A1):c.4267G>T (p.Glu1423Ter) | COL3A1 | Pathogenic | 2 | 189876366 | 189876366 | G | T | criteria provided, single submitter | ClinGen:CA349850222 |
single nucleotide variant | NM_000090.4(COL3A1):c.4360C>T (p.Gln1454Ter) | COL3A1 | Pathogenic | 2 | 189876459 | 189876459 | C | T | criteria provided, single submitter | - |