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.650G>A (p.Trp217Ter)	FBN1	Pathogenic	15	48829894	48829894	C	T	criteria provided, single submitter	ClinGen:CA392445965
single nucleotide variant	NM_000138.5(FBN1):c.558T>A (p.Cys186Ter)	FBN1	Pathogenic	15	48829986	48829986	A	T	criteria provided, single submitter	ClinGen:CA392446160
single nucleotide variant	NM_000138.5(FBN1):c.496T>A (p.Cys166Ser)	FBN1	Pathogenic/Likely pathogenic	15	48888522	48888522	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392446313
single nucleotide variant	NM_000138.5(FBN1):c.448T>C (p.Cys150Arg)	FBN1	Likely pathogenic	15	48888570	48888570	A	G	criteria provided, single submitter	ClinGen:CA392446408
single nucleotide variant	NM_000138.5(FBN1):c.412A>T (p.Lys138Ter)	FBN1	Pathogenic	15	48892366	48892366	T	A	criteria provided, single submitter	ClinGen:CA392446496
single nucleotide variant	NM_000138.5(FBN1):c.408C>G (p.Cys136Trp)	FBN1	Likely pathogenic	15	48892370	48892370	G	C	criteria provided, single submitter	ClinGen:CA392446504
single nucleotide variant	NM_000138.5(FBN1):c.347-2A>G	FBN1	Pathogenic	15	48892433	48892433	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392446647
Indel	NM_000138.5(FBN1):c.258_260delinsCT (p.His87fs)	FBN1	Pathogenic	15	48903011	48903013	TGC	AG	criteria provided, single submitter	ClinGen:CA658798368
single nucleotide variant	NM_000138.5(FBN1):c.202T>A (p.Cys68Ser)	FBN1	Likely pathogenic	15	48905252	48905252	A	T	criteria provided, single submitter	ClinGen:CA392448434
Deletion	NM_000138.5(FBN1):c.111del (p.Arg38fs)	FBN1	Pathogenic	15	48936856	48936856	TG	T	criteria provided, single submitter	ClinGen:CA658798379