single nucleotide variant | NM_000138.5(FBN1):c.8275G>T (p.Glu2759Ter) | FBN1 | Likely pathogenic | 15 | 48703528 | 48703528 | C | A | criteria provided, single submitter | ClinGen:CA16042931 |
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.8267G>A (p.Trp2756Ter) | FBN1 | Pathogenic | 15 | 48703536 | 48703536 | C | T | criteria provided, single submitter | ClinGen:CA017666 |
Indel | NM_000138.5(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs) | FBN1 | Pathogenic | 15 | 48703537 | 48703538 | AA | TCCT | criteria provided, single submitter | ClinGen:CA017652 |
Deletion | NM_000138.5(FBN1):c.8259del (p.Ala2754fs) | FBN1 | Pathogenic | 15 | 48703544 | 48703544 | CA | C | criteria provided, single submitter | - |
Deletion | NM_000138.5(FBN1):c.8256del (p.Ala2754fs) | FBN1 | Pathogenic | 15 | 48703547 | 48703547 | GA | G | criteria provided, single submitter | ClinGen:CA16619938 |
single nucleotide variant | NM_000138.5(FBN1):c.8226+5G>A | FBN1 | Pathogenic/Likely pathogenic | 15 | 48704761 | 48704761 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017638 |
single nucleotide variant | NM_000138.5(FBN1):c.8226+1G>T | FBN1 | Pathogenic | 15 | 48704765 | 48704765 | C | A | criteria provided, single submitter | ClinGen:CA017633,OMIM:134797.0066 |
single nucleotide variant | NM_000138.5(FBN1):c.8226+1G>A | FBN1 | Pathogenic/Likely pathogenic | 15 | 48704765 | 48704765 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576035,OMIM:134797.0070 |
Duplication | NM_000138.5(FBN1):c.8206dup (p.Thr2736fs) | FBN1 | Pathogenic | 15 | 48704785 | 48704786 | G | GT | criteria provided, single submitter | ClinGen:CA658798344 |