Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp) | COL3A1 | Likely pathogenic | 2 | 189855034 | 189855034 | G | A | criteria provided, single submitter | ClinGen:CA007350,UniProtKB:P02461#VAR_011105,OMIM:120180.0028 |
single nucleotide variant | NM_000090.4(COL3A1):c.2553+5G>T | COL3A1 | Likely pathogenic | 2 | 189867793 | 189867793 | G | T | criteria provided, single submitter | ClinGen:CA005487,OMIM:120180.0008 |
single nucleotide variant | NM_000090.4(COL3A1):c.1149+1G>A | COL3A1 | Pathogenic | 2 | 189858186 | 189858186 | G | A | criteria provided, single submitter | ClinGen:CA004082,OMIM:120180.0005 |
single nucleotide variant | NM_000090.4(COL3A1):c.1347+1G>A | COL3A1 | Pathogenic | 2 | 189859321 | 189859321 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004237,OMIM:120180.0004 |
single nucleotide variant | NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg) | COL3A1 | Pathogenic | 2 | 189866280 | 189866280 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA005350,UniProtKB:P02461#VAR_001782,OMIM:120180.0002 |