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.5579G>A (p.Cys1860Tyr)	FBN1	Pathogenic	15	48741057	48741057	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5679T>G (p.Asn1893Lys)	FBN1	Likely pathogenic	15	48739012	48739012	A	C	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.6090dup (p.Asn2031Ter)	FBN1	Pathogenic	15	48733990	48733991	T	TA	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.6266del (p.Gly2089fs)	FBN1	Pathogenic	15	48730012	48730012	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6393C>G (p.Cys2131Trp)	FBN1	Pathogenic/Likely pathogenic	15	48729261	48729261	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.6452G>A (p.Cys2151Tyr)	FBN1	Pathogenic	15	48729202	48729202	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6584G>T (p.Gly2195Val)	FBN1	Pathogenic	15	48726823	48726823	C	A	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.6623_6627del (p.Asn2208fs)	FBN1	Pathogenic	15	48725175	48725179	ATTCAT	A	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.6699del (p.Val2234fs)	FBN1	Pathogenic	15	48725103	48725103	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6866G>A (p.Cys2289Tyr)	FBN1	Pathogenic	15	48722873	48722873	C	T	criteria provided, multiple submitters, no conflicts	-