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.6380-2A>G	FBN1	Likely pathogenic	15	48729276	48729276	T	C	criteria provided, single submitter	ClinGen:CA392336727
single nucleotide variant	NM_000138.5(FBN1):c.6158G>A (p.Cys2053Tyr)	FBN1	Pathogenic	15	48733923	48733923	C	T	criteria provided, single submitter	ClinGen:CA392337901
single nucleotide variant	NM_000138.5(FBN1):c.5930G>A (p.Cys1977Tyr)	FBN1	Pathogenic	15	48736845	48736845	C	T	criteria provided, single submitter	ClinGen:CA392339879
single nucleotide variant	NM_000138.5(FBN1):c.4460A>G (p.Asp1487Gly)	FBN1	Pathogenic	15	48760731	48760731	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392353834
Deletion	NM_000138.5(FBN1):c.4188del (p.Gly1397fs)	FBN1	Pathogenic	15	48766474	48766474	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798357
single nucleotide variant	NM_000138.5(FBN1):c.4044T>G (p.Cys1348Trp)	FBN1	Pathogenic	15	48766768	48766768	A	C	criteria provided, single submitter	ClinGen:CA392320490
single nucleotide variant	NM_000138.5(FBN1):c.3012C>A (p.Tyr1004Ter)	FBN1	Pathogenic	15	48782118	48782118	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392329038
single nucleotide variant	NM_000138.5(FBN1):c.2986T>C (p.Cys996Arg)	FBN1	Likely pathogenic	15	48782144	48782144	A	G	criteria provided, single submitter	ClinGen:CA269533518
single nucleotide variant	NM_000138.5(FBN1):c.2777G>A (p.Cys926Tyr)	FBN1	Pathogenic	15	48784735	48784735	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392330722
single nucleotide variant	NM_000138.5(FBN1):c.2651G>A (p.Gly884Glu)	FBN1	Pathogenic	15	48787346	48787346	C	T	criteria provided, single submitter	ClinGen:CA392332107