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.1179_1180dup (p.Val394fs)	FBN1	Pathogenic	15	48808526	48808527	A	ACC	criteria provided, single submitter	ClinGen:CA10603463
single nucleotide variant	NM_000138.5(FBN1):c.1148-1G>A	FBN1	Likely pathogenic	15	48808560	48808560	C	T	criteria provided, single submitter	ClinGen:CA392345749
single nucleotide variant	NM_000138.5(FBN1):c.1148-2A>G	FBN1	Pathogenic/Likely pathogenic	15	48808561	48808561	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011982
single nucleotide variant	NM_000138.5(FBN1):c.1148-2A>C	FBN1	Pathogenic	15	48808561	48808561	T	G	criteria provided, single submitter	ClinGen:CA011972
Duplication	NC_000015.9:g.(?_48812836)_(48905309_?)dup	FBN1	Likely pathogenic	15	48812836	48905309	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48520639)_(48520837_?)del	FBN1	Pathogenic	15	48812836	48813034	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1138A>T (p.Arg380Ter)	FBN1	Pathogenic	15	48812865	48812865	T	A	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.1134del (p.Ile379fs)	FBN1	Pathogenic	15	48812869	48812869	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614832
single nucleotide variant	NM_000138.5(FBN1):c.1129T>C (p.Cys377Arg)	FBN1	Likely pathogenic	15	48812874	48812874	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587868
single nucleotide variant	NM_000138.5(FBN1):c.1098G>T (p.Trp366Cys)	FBN1	Pathogenic/Likely pathogenic	15	48812905	48812905	C	A	criteria provided, multiple submitters, no conflicts	-