single nucleotide variant | NM_000090.4(COL3A1):c.2051G>A (p.Gly684Glu) | COL3A1 | Pathogenic | 2 | 189864039 | 189864039 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser) | COL3A1 | Likely pathogenic | 2 | 189863418 | 189863418 | G | A | criteria provided, multiple submitters, no conflicts | - |
Indel | NM_000090.4(COL3A1):c.1851_1855delinsAG (p.Gly618_Pro619delinsAla) | COL3A1 | Likely pathogenic | 2 | 189862097 | 189862101 | GGGAC | AG | criteria provided, single submitter | - |
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.845G>T (p.Gly282Val) | COL3A1 | Pathogenic | 2 | 189855776 | 189855776 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.827G>T (p.Gly276Val) | COL3A1 | Likely pathogenic | 2 | 189855758 | 189855758 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.826G>A (p.Gly276Ser) | COL3A1 | Pathogenic | 2 | 189855757 | 189855757 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.1977+5G>A | COL3A1 | Likely pathogenic | 2 | 189863050 | 189863050 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.2536G>A (p.Gly846Arg) | COL3A1 | Likely pathogenic | 2 | 189867771 | 189867771 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.2042G>A (p.Gly681Asp) | COL3A1 | Likely pathogenic | 2 | 189864030 | 189864030 | G | A | criteria provided, multiple submitters, no conflicts | - |