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.8422del (p.Gln2808fs)	FBN1	Likely pathogenic	15	48703381	48703381	TG	T	criteria provided, single submitter	ClinGen:CA645369661
Deletion	NM_000138.5(FBN1):c.8412_8417del (p.Lys2805_Ile2806del)	FBN1	Likely pathogenic	15	48703386	48703391	GATTTTA	G	criteria provided, single submitter	ClinGen:CA017730
Duplication	NM_000138.5(FBN1):c.8416dup (p.Ile2806fs)	FBN1	Pathogenic	15	48703386	48703387	A	AT	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.8405dup (p.Phe2803fs)	FBN1	Pathogenic	15	48703397	48703398	G	GC	criteria provided, single submitter	ClinGen:CA658798337
Duplication	NM_000138.5(FBN1):c.8360dup (p.Thr2788fs)	FBN1	Likely pathogenic	15	48703442	48703443	C	CA	criteria provided, single submitter	ClinGen:CA658656462
single nucleotide variant	NM_000138.5(FBN1):c.8339T>C (p.Leu2780Pro)	FBN1	Likely pathogenic	15	48703464	48703464	A	G	criteria provided, single submitter	ClinGen:CA353635
single nucleotide variant	NM_000138.5(FBN1):c.8335G>T (p.Glu2779Ter)	FBN1	Likely pathogenic	15	48703468	48703468	C	A	criteria provided, single submitter	ClinGen:CA392319546
Deletion	NM_000138.5(FBN1):c.8329del (p.Ile2777fs)	FBN1	Likely pathogenic	15	48703474	48703474	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)	FBN1	Pathogenic/Likely pathogenic	15	48703477	48703477	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017692,OMIM:134797.0017
Deletion	NM_000138.4(FBN1):c.(?_4473)_(8280_?)del	FBN1	Pathogenic	15	48703523	48760718	na	na	criteria provided, single submitter	-