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
Duplication	NM_000138.5(FBN1):c.6793_6800dup (p.Leu2268fs)	FBN1	Likely pathogenic	15	48722938	48722939	G	GTTCTTGCA	criteria provided, single submitter	ClinGen:CA281834
single nucleotide variant	NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)	FBN1	Pathogenic/Likely pathogenic	15	48722933	48722933	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA016742
single nucleotide variant	NM_000138.5(FBN1):c.7229A>C (p.His2410Pro)	FBN1	Likely pathogenic	15	48718037	48718037	T	G	criteria provided, single submitter	ClinGen:CA017104
Deletion	NM_000138.5(FBN1):c.7678del (p.Gln2560fs)	FBN1	Likely pathogenic	15	48713776	48713776	TG	T	criteria provided, single submitter	ClinGen:CA017330
single nucleotide variant	NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter)	FBN1	Pathogenic/Likely pathogenic	15	48712897	48712897	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017375
single nucleotide variant	NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg)	FBN1	Likely pathogenic	15	48707905	48707905	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017435
single nucleotide variant	NM_000138.5(FBN1):c.7898G>C (p.Cys2633Ser)	FBN1	Likely pathogenic	15	48707886	48707886	C	G	criteria provided, single submitter	ClinGen:CA017457
Deletion	NM_000138.5(FBN1):c.8203del (p.Glu2735fs)	FBN1	Likely pathogenic	15	48704789	48704789	TC	T	criteria provided, single submitter	ClinGen:CA017613
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
single nucleotide variant	NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)	FBN1	Pathogenic/Likely pathogenic	15	48782210	48782210	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013513,OMIM:134797.0063