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.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.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.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.6354C>T (p.Ile2118=)	FBN1	Pathogenic	15	48729544	48729544	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016359,OMIM:134797.0030
single nucleotide variant	NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter)	FBN1	Pathogenic	15	48805749	48805749	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012291,OMIM:134797.0033
single nucleotide variant	NM_000138.5(FBN1):c.2954G>A (p.Gly985Glu)	FBN1	Likely pathogenic	15	48782176	48782176	C	T	criteria provided, single submitter	ClinGen:CA013595,OMIM:134797.0034
single nucleotide variant	NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys)	FBN1	Pathogenic	15	48780430	48780430	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013900,OMIM:134797.0038
single nucleotide variant	NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys)	FBN1	Pathogenic	15	48789495	48789495	T	C	criteria provided, single submitter	ClinGen:CA012911,OMIM:134797.0041
single nucleotide variant	NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)	FBN1	Pathogenic/Likely pathogenic	15	48829826	48829826	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017067,OMIM:134797.0042
single nucleotide variant	NM_000138.5(FBN1):c.3095G>A (p.Cys1032Tyr)	FBN1	Pathogenic	15	48780678	48780678	C	T	criteria provided, single submitter	ClinGen:CA013783,OMIM:134797.0043