single nucleotide variant | NM_000090.4(COL3A1):c.3851G>A (p.Gly1284Glu) | COL3A1 | Likely pathogenic | 2 | 189874931 | 189874931 | G | A | criteria provided, single submitter | OMIM:120180.0036,ClinVar:101229 |
single nucleotide variant | NM_000090.4(COL3A1):c.3833G>A (p.Trp1278Ter) | COL3A1 | Pathogenic | 2 | 189874913 | 189874913 | G | A | criteria provided, single submitter | ClinGen:CA16610602 |
single nucleotide variant | NM_000090.4(COL3A1):c.3823+1G>T | COL3A1 | Likely pathogenic | 2 | 189873948 | 189873948 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.3581G>A (p.Gly1194Asp) | COL3A1 | Likely pathogenic | 2 | 189873705 | 189873705 | G | A | criteria provided, single submitter | ClinGen:CA349846675 |
single nucleotide variant | NM_000090.4(COL3A1):c.3572G>A (p.Gly1191Asp) | COL3A1 | Likely pathogenic | 2 | 189873696 | 189873696 | G | A | criteria provided, single submitter | ClinGen:CA006679 |
single nucleotide variant | NM_000090.4(COL3A1):c.3562G>A (p.Gly1188Arg) | COL3A1 | Pathogenic | 2 | 189873686 | 189873686 | G | A | criteria provided, single submitter | ClinGen:CA006665,UniProtKB:P02461#VAR_001807 |
single nucleotide variant | NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp) | COL3A1 | Likely pathogenic | 2 | 189873678 | 189873678 | G | A | criteria provided, single submitter | ClinGen:CA006649,UniProtKB:P02461#VAR_001804,OMIM:120180.0015 |
single nucleotide variant | NM_000090.4(COL3A1):c.3544G>C (p.Gly1182Arg) | COL3A1 | Pathogenic | 2 | 189873668 | 189873668 | G | C | criteria provided, single submitter | ClinGen:CA10602846 |
single nucleotide variant | NM_000090.4(COL3A1):c.3536G>T (p.Gly1179Val) | COL3A1 | Likely pathogenic | 2 | 189873660 | 189873660 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA006617 |
single nucleotide variant | NM_000090.4(COL3A1):c.3527G>A (p.Gly1176Asp) | COL3A1 | Pathogenic | 2 | 189873651 | 189873651 | G | A | criteria provided, single submitter | - |