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.8530C>T (p.Gln2844Ter)	FBN1	Likely pathogenic	15	48703273	48703273	G	A	criteria provided, single submitter	ClinGen:CA392318647
single nucleotide variant	NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg)	FBN1	Pathogenic/Likely pathogenic	15	48741010	48741010	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392341877
single nucleotide variant	NM_000138.5(FBN1):c.5016T>G (p.Cys1672Trp)	FBN1	Likely pathogenic	15	48756145	48756145	A	C	criteria provided, single submitter	ClinGen:CA392349948
Duplication	NM_000138.5(FBN1):c.2920dup (p.Arg974fs)	FBN1	Likely pathogenic	15	48782209	48782210	C	CG	criteria provided, single submitter	ClinGen:CA658798372
single nucleotide variant	NM_000138.5(FBN1):c.2696G>A (p.Gly899Glu)	FBN1	Likely pathogenic	15	48786433	48786433	C	T	criteria provided, single submitter	ClinGen:CA392331688
single nucleotide variant	NM_000138.5(FBN1):c.2216G>A (p.Cys739Tyr)	FBN1	Pathogenic	15	48789540	48789540	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392335750
single nucleotide variant	NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys)	FBN1	Pathogenic/Likely pathogenic	15	48797278	48797278	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392339070
Duplication	NM_000138.5(FBN1):c.8206dup (p.Thr2736fs)	FBN1	Pathogenic	15	48704785	48704786	G	GT	criteria provided, single submitter	ClinGen:CA658798344
single nucleotide variant	NM_000138.5(FBN1):c.7006G>T (p.Glu2336Ter)	FBN1	Pathogenic	15	48719962	48719962	C	A	criteria provided, single submitter	ClinGen:CA392330357
single nucleotide variant	NM_000138.5(FBN1):c.5999G>A (p.Cys2000Tyr)	FBN1	Likely pathogenic	15	48736776	48736776	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392339674