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.3668G>A (p.Cys1223Tyr)	FBN1	Pathogenic	15	48777615	48777615	C	T	criteria provided, single submitter	ClinGen:CA014399,OMIM:134797.0022
single nucleotide variant	NM_000138.5(FBN1):c.4087+1G>A	FBN1	Pathogenic	15	48766724	48766724	C	T	criteria provided, single submitter	ClinGen:CA014744,OMIM:134797.0020
single nucleotide variant	NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)	FBN1	Pathogenic	15	48892414	48892414	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014381,OMIM:134797.0018
single nucleotide variant	NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)	FBN1	Pathogenic/Likely pathogenic	15	48703477	48703477	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017692,OMIM:134797.0017
single nucleotide variant	NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)	FBN1	Pathogenic/Likely pathogenic	15	48717680	48717680	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017155,OMIM:134797.0015
single nucleotide variant	NM_000138.5(FBN1):c.6739+1G>C	FBN1	Likely pathogenic	15	48725062	48725062	C	G	criteria provided, single submitter	ClinGen:CA392333153,OMIM:134797.0014
single nucleotide variant	NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala)	FBN1	Likely pathogenic	15	48789588	48789588	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012833,OMIM:134797.0011
single nucleotide variant	NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile)	FBN1	Pathogenic	15	48802312	48802312	T	A	criteria provided, single submitter	ClinGen:CA012380,OMIM:134797.0010
single nucleotide variant	NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)	FBN1	Pathogenic/Likely pathogenic	15	48729223	48729223	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016451,OMIM:134797.0009
single nucleotide variant	NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter)	FBN1	Pathogenic	15	48729559	48729559	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016342,OMIM:134797.0008