マルファン症候群

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000138.5(FBN1):c.2677+5G>C	FBN1	Likely pathogenic	15	48787315	48787315	C	G	criteria provided, single submitter	ClinGen:CA645293892
single nucleotide variant	NM_000138.5(FBN1):c.629G>A (p.Cys210Tyr)	FBN1	Likely pathogenic	15	48829915	48829915	C	T	reviewed by expert panel	ClinGen:CA392446003
Deletion	NM_000138.5(FBN1):c.466_469del (p.Asn156fs)	FBN1	Pathogenic	15	48888549	48888552	CCATT	C	criteria provided, single submitter	ClinGen:CA645293894
Deletion	NM_000138.5(FBN1):c.8422del (p.Gln2808fs)	FBN1	Likely pathogenic	15	48703381	48703381	TG	T	criteria provided, single submitter	ClinGen:CA645369661
single nucleotide variant	NM_000138.5(FBN1):c.7819+1G>A	FBN1	Pathogenic	15	48712883	48712883	C	T	criteria provided, single submitter	ClinGen:CA392324382
single nucleotide variant	NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48718049	48718049	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392328826
Duplication	NM_000138.5(FBN1):c.7037dup (p.Asn2346fs)	FBN1	Pathogenic	15	48719930	48719931	G	GT	criteria provided, single submitter	ClinGen:CA645369662
single nucleotide variant	NM_000138.5(FBN1):c.6997+2T>C	FBN1	Pathogenic	15	48720541	48720541	A	G	criteria provided, single submitter	ClinGen:CA392330386
single nucleotide variant	NM_000138.5(FBN1):c.6332G>A (p.Cys2111Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48729566	48729566	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392336833
single nucleotide variant	NM_000138.5(FBN1):c.6296G>T (p.Cys2099Phe)	FBN1	Pathogenic	15	48729982	48729982	C	A	criteria provided, single submitter	ClinGen:CA392336920