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.3040G>A (p.Gly1014Arg) | COL3A1 | Pathogenic/Likely pathogenic | 2 | 189870932 | 189870932 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA349844889 |
single nucleotide variant | NM_000090.4(COL3A1):c.3112G>C (p.Gly1038Arg) | COL3A1 | Pathogenic/Likely pathogenic | 2 | 189871089 | 189871089 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000090.4(COL3A1):c.773G>C (p.Gly258Ala) | COL3A1 | Pathogenic/Likely pathogenic | 2 | 189855061 | 189855061 | G | C | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000090.4(COL3A1):c.937_938dup (p.Pro314fs) | COL3A1 | Pathogenic/Likely pathogenic | 2 | 189856433 | 189856434 | A | ACT | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu) | COL3A1 | Pathogenic/Likely pathogenic | 2 | 189864605 | 189864605 | G | A | criteria provided, multiple submitters, no conflicts | - |