single nucleotide variant | NM_000090.4(COL3A1):c.447+1G>A | COL3A1 | Likely pathogenic | 2 | 189850505 | 189850505 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.1106G>T (p.Gly369Val) | COL3A1 | Likely pathogenic | 2 | 189858142 | 189858142 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.3093+1G>T | COL3A1 | Likely pathogenic | 2 | 189870986 | 189870986 | G | T | criteria provided, single submitter | - |
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 | - |
single nucleotide variant | NM_000090.4(COL3A1):c.622C>T (p.Gln208Ter) | COL3A1 | Likely pathogenic | 2 | 189853355 | 189853355 | C | T | criteria provided, single submitter | - |
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.1282C>T (p.Arg428Ter) | COL3A1 | Pathogenic | 2 | 189859047 | 189859047 | C | T | criteria provided, multiple submitters, no conflicts | OMIM:120180.0037 |
Deletion | NM_000090.4(COL3A1):c.2102del (p.Pro701fs) | COL3A1 | Pathogenic | 2 | 189864086 | 189864086 | TC | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.2096G>T (p.Gly699Val) | COL3A1 | Pathogenic | 2 | 189864084 | 189864084 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.4012-2A>G | COL3A1 | Likely pathogenic | 2 | 189875372 | 189875372 | A | G | criteria provided, single submitter | - |