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.4160A>G (p.Tyr1387Cys)	FBN1	Likely pathogenic	15	48766502	48766502	T	C	criteria provided, single submitter	ClinGen:CA014815
single nucleotide variant	NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg)	FBN1	Pathogenic	15	48764862	48764862	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA014867
Deletion	NM_000138.5(FBN1):c.4251_4259del (p.Gly1418_Cys1420del)	FBN1	Likely pathogenic	15	48764825	48764833	GCACTGGCCA	G	criteria provided, single submitter	ClinGen:CA014885
single nucleotide variant	NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48764825	48764825	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014905
single nucleotide variant	NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr)	FBN1	Likely pathogenic	15	48762923	48762923	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015004
single nucleotide variant	NM_000138.5(FBN1):c.4367G>C (p.Cys1456Ser)	FBN1	Pathogenic	15	48762923	48762923	C	G	criteria provided, single submitter	ClinGen:CA015012
single nucleotide variant	NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro)	FBN1	Likely pathogenic	15	48762884	48762884	C	G	criteria provided, single submitter	ClinGen:CA015037
single nucleotide variant	NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48760686	48760686	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015141
single nucleotide variant	NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg)	FBN1	Pathogenic/Likely pathogenic	15	48760660	48760660	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015175
single nucleotide variant	NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter)	FBN1	Pathogenic/Likely pathogenic	15	48760624	48760624	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015204