single nucleotide variant | NM_000090.4(COL3A1):c.2140G>A (p.Gly714Arg) | COL3A1 | Likely pathogenic | 2 | 189864214 | 189864214 | G | A | criteria provided, single submitter | ClinGen:CA005093 |
single nucleotide variant | NM_000090.4(COL3A1):c.2824G>A (p.Gly942Arg) | COL3A1 | Likely pathogenic | 2 | 189868983 | 189868983 | G | A | criteria provided, single submitter | ClinGen:CA005726 |
single nucleotide variant | NM_000090.4(COL3A1):c.2078G>C (p.Gly693Ala) | COL3A1 | Likely pathogenic | 2 | 189864066 | 189864066 | G | C | criteria provided, single submitter | ClinGen:CA004970 |
single nucleotide variant | NM_000090.4(COL3A1):c.2771G>A (p.Gly924Asp) | COL3A1 | Likely pathogenic | 2 | 189868817 | 189868817 | G | A | criteria provided, single submitter | ClinGen:CA005666 |
single nucleotide variant | NM_000090.4(COL3A1):c.2607+5G>T | COL3A1 | Likely pathogenic | 2 | 189868195 | 189868195 | G | T | criteria provided, single submitter | ClinGen:CA005549 |
single nucleotide variant | NM_000090.4(COL3A1):c.2337G>A (p.Lys779=) | COL3A1 | Likely pathogenic | 2 | 189866176 | 189866176 | G | A | criteria provided, single submitter | ClinGen:CA005337 |
single nucleotide variant | NM_000090.4(COL3A1):c.2770G>T (p.Gly924Cys) | COL3A1 | Likely pathogenic | 2 | 189868816 | 189868816 | G | T | criteria provided, single submitter | ClinGen:CA005659,UniProtKB:P02461#VAR_011140 |
single nucleotide variant | NM_000090.4(COL3A1):c.1466G>A (p.Gly489Glu) | COL3A1 | Likely pathogenic | 2 | 189859782 | 189859782 | G | A | criteria provided, single submitter | ClinGen:CA004303,UniProtKB:P02461#VAR_011118 |
single nucleotide variant | NM_000090.4(COL3A1):c.1808G>T (p.Gly603Val) | COL3A1 | Likely pathogenic | 2 | 189861937 | 189861937 | G | T | criteria provided, single submitter | ClinGen:CA004553 |
single nucleotide variant | NM_000090.4(COL3A1):c.809G>A (p.Gly270Glu) | COL3A1 | Likely pathogenic | 2 | 189855740 | 189855740 | G | A | criteria provided, single submitter | ClinGen:CA007473 |