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
Deletion	NM_000138.5(FBN1):c.8064del (p.Gly2689fs)	FBN1	Pathogenic	15	48704928	48704928	CA	C	criteria provided, single submitter	ClinGen:CA017533
single nucleotide variant	NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)	FBN1	Pathogenic/Likely pathogenic	15	48707746	48707746	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017529
single nucleotide variant	NM_000138.5(FBN1):c.8010C>G (p.Tyr2670Ter)	FBN1	Pathogenic	15	48707774	48707774	G	C	criteria provided, single submitter	ClinGen:CA017517
single nucleotide variant	NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys)	FBN1	Pathogenic/Likely pathogenic	15	48707779	48707779	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017505
single nucleotide variant	NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)	FBN1	Pathogenic/Likely pathogenic	15	48707868	48707868	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017463
single nucleotide variant	NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48707952	48707952	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017404
single nucleotide variant	NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr)	FBN1	Pathogenic	15	48712928	48712928	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017362
single nucleotide variant	NM_000138.5(FBN1):c.7624C>T (p.Gln2542Ter)	FBN1	Pathogenic	15	48713830	48713830	G	A	criteria provided, single submitter	ClinGen:CA017303
single nucleotide variant	NM_000138.5(FBN1):c.7604G>A (p.Cys2535Tyr)	FBN1	Likely pathogenic	15	48713850	48713850	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7600C>A (p.Leu2534Met)	FBN1	Likely pathogenic	15	48713854	48713854	G	T	criteria provided, single submitter	ClinGen:CA017282