マルファン症候群

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.8512A>T (p.Lys2838Ter)	FBN1	Pathogenic	15	48703291	48703291	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter)	FBN1	Pathogenic	15	48703315	48703315	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587783
single nucleotide variant	NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter)	FBN1	Likely pathogenic	15	48703320	48703320	G	C	criteria provided, single submitter	ClinGen:CA017783
Deletion	NM_000138.5(FBN1):c.8473_8475del (p.Gly2825del)	FBN1	Likely pathogenic	15	48703328	48703330	TTCC	T	criteria provided, single submitter	ClinGen:CA017763
single nucleotide variant	NM_000138.5(FBN1):c.8447A>C (p.His2816Pro)	FBN1	Likely pathogenic	15	48703356	48703356	T	G	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.8422del (p.Gln2808fs)	FBN1	Likely pathogenic	15	48703381	48703381	TG	T	criteria provided, single submitter	ClinGen:CA645369661
Duplication	NM_000138.5(FBN1):c.8416dup (p.Ile2806fs)	FBN1	Pathogenic	15	48703386	48703387	A	AT	criteria provided, single submitter	-
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.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