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.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.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.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.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.3491G>A (p.Gly1164Glu) | COL3A1 | Likely pathogenic | 2 | 189872834 | 189872834 | G | A | criteria provided, single submitter | ClinGen:CA006480,UniProtKB:P02461#VAR_011155 |
single nucleotide variant | NM_000090.4(COL3A1):c.2823+1G>A | COL3A1 | Likely pathogenic | 2 | 189868870 | 189868870 | G | A | criteria provided, single submitter | ClinGen:CA005713 |
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.1691G>C (p.Gly564Ala) | COL3A1 | Likely pathogenic | 2 | 189861152 | 189861152 | G | C | criteria provided, single submitter | ClinGen:CA004438 |
single nucleotide variant | NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg) | COL3A1 | Likely pathogenic | 2 | 189856249 | 189856249 | G | A | criteria provided, single submitter | ClinGen:CA349849940,OMIM:120180.0031 |