single nucleotide variant | NM_000090.4(COL3A1):c.3255+1G>C | COL3A1 | Pathogenic | 2 | 189871717 | 189871717 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.4360C>T (p.Gln1454Ter) | COL3A1 | Pathogenic | 2 | 189876459 | 189876459 | C | T | criteria provided, single submitter | - |
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.845G>T (p.Gly282Val) | COL3A1 | Pathogenic | 2 | 189855776 | 189855776 | 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.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.2569C>T (p.Gln857Ter) | COL3A1 | Pathogenic | 2 | 189868152 | 189868152 | C | T | criteria provided, single submitter | - |
Deletion | NM_000090.4(COL3A1):c.2392-3_2395del | COL3A1 | Pathogenic | 2 | 189867021 | 189867027 | TCAGGGTG | T | criteria provided, single submitter | - |