single nucleotide variant | NM_000090.4(COL3A1):c.584G>T (p.Gly195Val) | COL3A1 | Likely pathogenic | 2 | 189853317 | 189853317 | G | T | criteria provided, single submitter | ClinGen:CA349848315 |
single nucleotide variant | NM_000090.4(COL3A1):c.583G>A (p.Gly195Arg) | COL3A1 | Likely pathogenic | 2 | 189853316 | 189853316 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.582+5G>A | COL3A1 | Pathogenic/Likely pathogenic | 2 | 189852865 | 189852865 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007049,OMIM:120180.0032 |
single nucleotide variant | NM_000090.4(COL3A1):c.582+1G>C | COL3A1 | Likely pathogenic | 2 | 189852861 | 189852861 | G | C | criteria provided, single submitter | ClinGen:CA007027 |
single nucleotide variant | NM_000090.4(COL3A1):c.565G>A (p.Gly189Ser) | COL3A1 | Likely pathogenic | 2 | 189852843 | 189852843 | G | A | criteria provided, single submitter | ClinGen:CA007000 |
Deletion | NM_000090.4(COL3A1):c.555del (p.Gly186fs) | COL3A1 | Pathogenic | 2 | 189852833 | 189852833 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA006973 |
single nucleotide variant | NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser) | COL3A1 | Pathogenic/Likely pathogenic | 2 | 189852825 | 189852825 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA006927,UniProtKB:P02461#VAR_011096,OMIM:120180.0027 |
single nucleotide variant | NM_000090.4(COL3A1):c.528+5G>C | COL3A1 | Likely pathogenic | 2 | 189851870 | 189851870 | G | C | criteria provided, single submitter | ClinGen:CA006907 |
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.282+1G>C | COL3A1 | Likely pathogenic | 2 | 189849689 | 189849689 | G | C | criteria provided, single submitter | ClinGen:CA349847467 |