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
single nucleotide variant	NM_000138.5(FBN1):c.4817-2A>G	FBN1	Likely pathogenic	15	48757892	48757892	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392351462
single nucleotide variant	NM_000138.5(FBN1):c.5788+2T>C	FBN1	Likely pathogenic	15	48738901	48738901	A	G	criteria provided, single submitter	ClinGen:CA392340988
single nucleotide variant	NM_000138.5(FBN1):c.433T>C (p.Cys145Arg)	FBN1	Likely pathogenic	15	48892345	48892345	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392446450
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
single nucleotide variant	NM_000138.5(FBN1):c.2953G>T (p.Gly985Trp)	FBN1	Likely pathogenic	15	48782177	48782177	C	A	criteria provided, single submitter	ClinGen:CA392329497
single nucleotide variant	NM_000138.5(FBN1):c.2738A>C (p.Glu913Ala)	FBN1	Likely pathogenic	15	48784774	48784774	T	G	criteria provided, single submitter	ClinGen:CA392330886
single nucleotide variant	NM_000138.5(FBN1):c.2873G>C (p.Cys958Ser)	FBN1	Likely pathogenic	15	48782257	48782257	C	G	criteria provided, single submitter	ClinGen:CA392330133
single nucleotide variant	NM_000138.5(FBN1):c.4244G>A (p.Cys1415Tyr)	FBN1	Likely pathogenic	15	48764840	48764840	C	T	criteria provided, single submitter	ClinGen:CA392317993
single nucleotide variant	NM_000138.5(FBN1):c.5824T>G (p.Cys1942Gly)	FBN1	Likely pathogenic	15	48737666	48737666	A	C	criteria provided, single submitter	ClinGen:CA392340125
single nucleotide variant	NM_000138.5(FBN1):c.7819+1G>T	FBN1	Likely pathogenic	15	48712883	48712883	C	A	criteria provided, single submitter	ClinGen:CA392324380