single nucleotide variant | NM_000138.5(FBN1):c.8268G>A (p.Trp2756Ter) | FBN1 | Pathogenic | 15 | 48703535 | 48703535 | C | T | criteria provided, single submitter | ClinGen:CA017671,OMIM:134797.0004 |
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 |
single nucleotide variant | NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr) | FBN1 | Pathogenic | 15 | 48776128 | 48776128 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA014498,OMIM:134797.0026 |
single nucleotide variant | NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter) | FBN1 | Pathogenic | 15 | 48729559 | 48729559 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA016342,OMIM:134797.0008 |
single nucleotide variant | NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48729223 | 48729223 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA016451,OMIM:134797.0009 |
single nucleotide variant | NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile) | FBN1 | Pathogenic | 15 | 48802312 | 48802312 | T | A | criteria provided, single submitter | ClinGen:CA012380,OMIM:134797.0010 |
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.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.7339G>A (p.Glu2447Lys) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48717680 | 48717680 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017155,OMIM:134797.0015 |
single nucleotide variant | NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48703477 | 48703477 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA017692,OMIM:134797.0017 |