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.4526A>G (p.Tyr1509Cys)	FBN1	Likely pathogenic	15	48760665	48760665	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA015164
single nucleotide variant	NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg)	FBN1	Pathogenic	15	48762837	48762837	A	G	criteria provided, single submitter	ClinGen:CA015083
single nucleotide variant	NM_000138.5(FBN1):c.4210+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48766451	48766451	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014835
single nucleotide variant	NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr)	FBN1	Pathogenic	15	48780642	48780642	C	T	criteria provided, single submitter	ClinGen:CA013806
single nucleotide variant	NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)	FBN1	Pathogenic	15	48802322	48802322	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012342
single nucleotide variant	NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)	FBN1	Pathogenic/Likely pathogenic	15	48808422	48808422	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012048
single nucleotide variant	NM_000138.5(FBN1):c.1A>G (p.Met1Val)	FBN1	Pathogenic	15	48936966	48936966	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012702
Deletion	NM_000138.5(FBN1):c.8544del (p.Lys2848fs)	FBN1	Pathogenic	15	48703259	48703259	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017809
single nucleotide variant	NM_000138.5(FBN1):c.8226+5G>A	FBN1	Pathogenic/Likely pathogenic	15	48704761	48704761	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017638
Duplication	NM_000138.5(FBN1):c.8154dup (p.Lys2719Ter)	FBN1	Pathogenic	15	48704837	48704838	T	TA	criteria provided, single submitter	ClinGen:CA304355