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.145C>G (p.Pro49Ala) | COL3A1 | Likely pathogenic | 2 | 189849551 | 189849551 | C | G | criteria provided, multiple submitters, no conflicts | OMIM:120180.0039 |
single nucleotide variant | NM_000090.4(COL3A1):c.134G>A (p.Trp45Ter) | COL3A1 | Pathogenic | 2 | 189849540 | 189849540 | G | A | criteria provided, single submitter | - |
Deletion | NM_000090.4(COL3A1):c.81del (p.Val28fs) | COL3A1 | Pathogenic | 2 | 189849487 | 189849487 | CT | C | criteria provided, single submitter | ClinGen:CA16610629 |
single nucleotide variant | NM_000090.4(COL3A1):c.80-1G>C | COL3A1 | Likely pathogenic | 2 | 189849485 | 189849485 | G | C | criteria provided, single submitter | - |
Duplication | NC_000002.11:g.(?_189839196)_(189839314_?)dup | COL3A1 | Pathogenic | 2 | 189839196 | 189839314 | na | na | criteria provided, single submitter | - |