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.4489T>C (p.Cys1497Arg)	FBN1	Likely pathogenic	15	48760702	48760702	A	G	criteria provided, single submitter	ClinGen:CA392353730
single nucleotide variant	NM_000138.5(FBN1):c.737-2A>G	FBN1	Likely pathogenic	15	48826404	48826404	T	C	criteria provided, single submitter	ClinGen:CA392352921
single nucleotide variant	NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly)	FBN1	Likely pathogenic	15	48780690	48780690	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392328329
single nucleotide variant	NM_000138.5(FBN1):c.3289T>C (p.Cys1097Arg)	FBN1	Likely pathogenic	15	48780358	48780358	A	G	criteria provided, single submitter	ClinGen:CA392327237
single nucleotide variant	NM_000138.5(FBN1):c.3761G>A (p.Cys1254Tyr)	FBN1	Likely pathogenic	15	48776092	48776092	C	T	criteria provided, single submitter	ClinGen:CA392323988
single nucleotide variant	NM_000138.5(FBN1):c.4138T>C (p.Cys1380Arg)	FBN1	Likely pathogenic	15	48766524	48766524	A	G	criteria provided, single submitter	ClinGen:CA392320268
single nucleotide variant	NM_000138.5(FBN1):c.4382G>C (p.Cys1461Ser)	FBN1	Likely pathogenic	15	48762908	48762908	C	G	criteria provided, single submitter	ClinGen:CA392354610
single nucleotide variant	NM_000138.5(FBN1):c.4688G>C (p.Cys1563Ser)	FBN1	Likely pathogenic	15	48760194	48760194	C	G	criteria provided, single submitter	ClinGen:CA392352967
single nucleotide variant	NM_000138.5(FBN1):c.5839T>C (p.Cys1947Arg)	FBN1	Likely pathogenic	15	48737651	48737651	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392340092
Deletion	NM_000138.5(FBN1):c.8422del (p.Gln2808fs)	FBN1	Likely pathogenic	15	48703381	48703381	TG	T	criteria provided, single submitter	ClinGen:CA645369661