single nucleotide variant | NM_000090.4(COL3A1):c.3518G>A (p.Gly1173Glu) | COL3A1 | Likely pathogenic | 2 | 189872861 | 189872861 | G | A | criteria provided, single submitter | ClinGen:CA006567,UniProtKB:P02461#VAR_001801,OMIM:120180.0016 |
single nucleotide variant | NM_000090.4(COL3A1):c.3508G>A (p.Gly1170Ser) | COL3A1 | Pathogenic/Likely pathogenic | 2 | 189872851 | 189872851 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA006533 |
single nucleotide variant | NM_000090.4(COL3A1):c.3500G>A (p.Gly1167Asp) | COL3A1 | Pathogenic/Likely pathogenic | 2 | 189872843 | 189872843 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA349846513 |
Indel | NM_000090.4(COL3A1):c.3500_3501delinsAA (p.Gly1167Glu) | COL3A1 | Pathogenic | 2 | 189872843 | 189872844 | GT | AA | criteria provided, single submitter | ClinGen:CA10587539 |
single nucleotide variant | NM_000090.4(COL3A1):c.3499G>A (p.Gly1167Ser) | COL3A1 | Pathogenic | 2 | 189872842 | 189872842 | G | A | criteria provided, single submitter | ClinGen:CA16617395 |
single nucleotide variant | NM_000090.4(COL3A1):c.3499G>T (p.Gly1167Cys) | COL3A1 | Likely pathogenic | 2 | 189872842 | 189872842 | G | T | criteria provided, single submitter | ClinGen:CA006513 |
single nucleotide variant | NM_000090.4(COL3A1):c.3499G>C (p.Gly1167Arg) | COL3A1 | Likely pathogenic | 2 | 189872842 | 189872842 | G | C | criteria provided, single submitter | ClinGen:CA006503 |
single nucleotide variant | NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter) | COL3A1 | Likely pathogenic | 2 | 189872839 | 189872839 | C | T | criteria provided, single submitter | ClinGen:CA006495 |
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.3482G>A (p.Gly1161Glu) | COL3A1 | Likely pathogenic | 2 | 189872825 | 189872825 | G | A | criteria provided, single submitter | ClinGen:CA006440 |