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.6872-961A>G	FBN1	Pathogenic/Likely pathogenic	15	48721629	48721629	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48905251	48905251	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1098G>C (p.Trp366Cys)	FBN1	Pathogenic/Likely pathogenic	15	48812905	48812905	C	G	criteria provided, multiple submitters, no conflicts	-
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.6916C>T (p.Arg2306Cys)	FBN1	Pathogenic/Likely pathogenic	15	48720624	48720624	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48717941	48717941	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter)	FBN1	Pathogenic/Likely pathogenic	15	48717632	48717632	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.4349G>T (p.Cys1450Phe)	FBN1	Pathogenic/Likely pathogenic	15	48762941	48762941	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7582T>C (p.Cys2528Arg)	FBN1	Pathogenic/Likely pathogenic	15	48713872	48713872	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1868G>T (p.Cys623Phe)	FBN1	Pathogenic/Likely pathogenic	15	48797314	48797314	C	A	criteria provided, multiple submitters, no conflicts	-