single nucleotide variant | NM_000090.4(COL3A1):c.3202G>T (p.Gly1068Cys) | COL3A1 | Likely pathogenic | 2 | 189871663 | 189871663 | G | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000090.4(COL3A1):c.2569C>T (p.Gln857Ter) | COL3A1 | Pathogenic | 2 | 189868152 | 189868152 | C | T | criteria provided, single submitter | - |
Deletion | NM_000090.4(COL3A1):c.2392-3_2395del | COL3A1 | Pathogenic | 2 | 189867021 | 189867027 | TCAGGGTG | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.134G>A (p.Trp45Ter) | COL3A1 | Pathogenic | 2 | 189849540 | 189849540 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.1502G>A (p.Gly501Glu) | COL3A1 | Pathogenic | 2 | 189859818 | 189859818 | G | A | criteria provided, single submitter | - |
Duplication | NC_000002.11:g.(?_189839196)_(189839314_?)dup | COL3A1 | Pathogenic | 2 | 189839196 | 189839314 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.3112G>C (p.Gly1038Arg) | COL3A1 | Pathogenic/Likely pathogenic | 2 | 189871089 | 189871089 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000090.4(COL3A1):c.1684C>T (p.Arg562Ter) | COL3A1 | Pathogenic | 2 | 189861145 | 189861145 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.80-1G>C | COL3A1 | Likely pathogenic | 2 | 189849485 | 189849485 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000090.4(COL3A1):c.4011+1G>T | COL3A1 | Pathogenic | 2 | 189875092 | 189875092 | G | T | criteria provided, single submitter | - |