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
Deletion	NM_000138.5(FBN1):c.3839_3846del (p.Asp1280fs)	FBN1	Pathogenic	15	48773970	48773977	CATTGACAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA269524044
Deletion	NM_000138.5(FBN1):c.2858del (p.Ile953fs)	FBN1	Pathogenic	15	48782272	48782272	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509191
single nucleotide variant	NM_000138.5(FBN1):c.1961-2A>G	FBN1	Pathogenic	15	48796138	48796138	T	C	criteria provided, single submitter	ClinGen:CA392338918
single nucleotide variant	NM_000138.5(FBN1):c.3221G>A (p.Cys1074Tyr)	FBN1	Pathogenic	15	48780426	48780426	C	T	criteria provided, single submitter	ClinGen:CA392327701
single nucleotide variant	NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg)	FBN1	Pathogenic	15	48725141	48725141	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA269523649
single nucleotide variant	NM_000138.5(FBN1):c.5783G>A (p.Cys1928Tyr)	FBN1	Pathogenic	15	48738908	48738908	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392341016
single nucleotide variant	NM_000138.5(FBN1):c.1532A>G (p.Tyr511Cys)	FBN1	Pathogenic	15	48805802	48805802	T	C	criteria provided, single submitter	ClinGen:CA392342427
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.8021G>C (p.Cys2674Ser)	FBN1	Likely pathogenic	15	48707763	48707763	C	G	criteria provided, single submitter	ClinGen:CA392322608
Duplication	NM_000138.5(FBN1):c.7931_7934dup (p.Cys2646fs)	FBN1	Likely pathogenic	15	48707849	48707850	T	TCCTC	criteria provided, single submitter	ClinGen:CA658656464