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.1462T>C (p.Cys488Arg)	FBN1	Pathogenic/Likely pathogenic	15	48807590	48807590	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392343563
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.7999G>T (p.Glu2667Ter)	FBN1	Pathogenic	15	48707785	48707785	C	A	criteria provided, single submitter	ClinGen:CA392322717
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.406T>G (p.Cys136Gly)	FBN1	Pathogenic	15	48892372	48892372	A	C	criteria provided, single submitter	ClinGen:CA392446510
single nucleotide variant	NM_000138.5(FBN1):c.6038-1G>A	FBN1	Pathogenic	15	48734044	48734044	C	T	criteria provided, single submitter	ClinGen:CA392338728
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.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.4747+5G>T	FBN1	Likely pathogenic	15	48760130	48760130	C	A	criteria provided, single submitter	ClinGen:CA658656473
Duplication	NM_000138.5(FBN1):c.4582+2dup	FBN1	Likely pathogenic	15	48760606	48760607	T	TA	criteria provided, single submitter	ClinGen:CA658656480