single nucleotide variant | NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu) | COL3A1 | Pathogenic/Likely pathogenic | 2 | 189864605 | 189864605 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000090.4(COL3A1):c.852+2T>C | COL3A1 | Likely pathogenic | 2 | 189855785 | 189855785 | T | C | criteria provided, single submitter | - |
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.2229+1G>A | COL3A1 | Likely pathogenic | 2 | 189864304 | 189864304 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000090.4(COL3A1):c.691-2A>G | COL3A1 | Pathogenic | 2 | 189854820 | 189854820 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.3255+1G>C | COL3A1 | Pathogenic | 2 | 189871717 | 189871717 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.4360C>T (p.Gln1454Ter) | COL3A1 | Pathogenic | 2 | 189876459 | 189876459 | C | T | criteria provided, single submitter | - |
Deletion | NM_000090.4(COL3A1):c.3440_3466del (p.Pro1147_Gly1155del) | COL3A1 | Likely pathogenic | 2 | 189872774 | 189872800 | CCCAGTGGACCTCCTGGCAAAGATGGAA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.2159G>A (p.Gly720Asp) | COL3A1 | Likely pathogenic | 2 | 189864233 | 189864233 | G | A | criteria provided, single submitter | - |
Deletion | NM_000090.4(COL3A1):c.2067_2072del (p.Gly690_Ala691del) | COL3A1 | Likely pathogenic | 2 | 189864052 | 189864057 | TGGCAGG | T | criteria provided, single submitter | - |