Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000138.5(FBN1):c.6739+1G>C | FBN1 | Likely pathogenic | 15 | 48725062 | 48725062 | C | G | criteria provided, single submitter | ClinGen:CA392333153,OMIM:134797.0014 |
single nucleotide variant | NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala) | FBN1 | Likely pathogenic | 15 | 48789588 | 48789588 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA012833,OMIM:134797.0011 |
single nucleotide variant | NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser) | FBN1 | Likely pathogenic | 15 | 48776107 | 48776107 | C | G | criteria provided, single submitter | ClinGen:CA014509,OMIM:134797.0005 |