single nucleotide variant | NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val) | COL3A1 | Likely pathogenic | 2 | 189858088 | 189858088 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004045 |
single nucleotide variant | NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu) | COL3A1 | Likely pathogenic | 2 | 189872780 | 189872780 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA006417 |
single nucleotide variant | NM_000090.4(COL3A1):c.944G>C (p.Gly315Ala) | COL3A1 | Likely pathogenic | 2 | 189856441 | 189856441 | G | C | criteria provided, single submitter | ClinGen:CA007600 |
single nucleotide variant | NM_000090.4(COL3A1):c.2203G>A (p.Gly735Arg) | COL3A1 | Likely pathogenic | 2 | 189864277 | 189864277 | G | A | criteria provided, single submitter | ClinGen:CA005179 |
single nucleotide variant | NM_000090.4(COL3A1):c.898G>C (p.Gly300Arg) | COL3A1 | Likely pathogenic | 2 | 189856395 | 189856395 | G | C | criteria provided, single submitter | ClinGen:CA007534 |
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 |
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.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.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.2337G>A (p.Lys779=) | COL3A1 | Likely pathogenic | 2 | 189866176 | 189866176 | G | A | criteria provided, single submitter | ClinGen:CA005337 |