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
Duplication	NM_000138.5(FBN1):c.7080dup (p.Ser2361fs)	FBN1	Pathogenic	15	48719887	48719888	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7082C>A (p.Ser2361Ter)	FBN1	Pathogenic	15	48719886	48719886	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7092C>A (p.Cys2364Ter)	FBN1	Pathogenic	15	48719876	48719876	G	T	criteria provided, single submitter	ClinGen:CA392329883
Deletion	NM_000138.5(FBN1):c.7092_7093del (p.Cys2364fs)	FBN1	Pathogenic	15	48719875	48719876	CAG	C	criteria provided, single submitter	ClinGen:CA10587792
single nucleotide variant	NM_000138.5(FBN1):c.7094G>A (p.Cys2365Tyr)	FBN1	Likely pathogenic	15	48719874	48719874	C	T	criteria provided, single submitter	ClinGen:CA017000
Deletion	NM_000138.5(FBN1):c.7109del (p.Gly2370fs)	FBN1	Likely pathogenic	15	48719859	48719859	GC	G	criteria provided, single submitter	ClinGen:CA353658
single nucleotide variant	NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter)	FBN1	Pathogenic	15	48719856	48719856	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392329714
Insertion	NM_000138.5(FBN1):c.7119_7120insGGAC (p.His2374fs)	FBN1	Pathogenic	15	48719848	48719849	G	GGTCC	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.7120del (p.His2374fs)	FBN1	Pathogenic	15	48719848	48719848	TG	T	criteria provided, single submitter	ClinGen:CA658798046
single nucleotide variant	NM_000138.5(FBN1):c.7125T>A (p.Cys2375Ter)	FBN1	Pathogenic	15	48719843	48719843	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017025