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.7363T>C (p.Cys2455Arg)	FBN1	Likely pathogenic	15	48717656	48717656	A	G	criteria provided, single submitter	ClinGen:CA10587794
single nucleotide variant	NM_000138.5(FBN1):c.6904T>A (p.Cys2302Ser)	FBN1	Pathogenic/Likely pathogenic	15	48720636	48720636	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587797
single nucleotide variant	NM_000138.5(FBN1):c.6611G>A (p.Cys2204Tyr)	FBN1	Pathogenic	15	48726796	48726796	C	T	criteria provided, single submitter	ClinGen:CA10587798
single nucleotide variant	NM_000138.5(FBN1):c.6991T>A (p.Cys2331Ser)	FBN1	Likely pathogenic	15	48720549	48720549	A	T	criteria provided, single submitter	ClinGen:CA10587799
single nucleotide variant	NM_000138.5(FBN1):c.6430A>C (p.Asn2144His)	FBN1	Likely pathogenic	15	48729224	48729224	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587800
single nucleotide variant	NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr)	FBN1	Pathogenic	15	48720656	48720656	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587802
single nucleotide variant	NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg)	FBN1	Pathogenic/Likely pathogenic	15	48726824	48726824	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587804
single nucleotide variant	NM_000138.5(FBN1):c.6773G>A (p.Cys2258Tyr)	FBN1	Likely pathogenic	15	48722966	48722966	C	T	criteria provided, single submitter	ClinGen:CA10587805
single nucleotide variant	NM_000138.5(FBN1):c.6492T>A (p.Cys2164Ter)	FBN1	Pathogenic	15	48729162	48729162	A	T	criteria provided, single submitter	ClinGen:CA10587806
single nucleotide variant	NM_000138.5(FBN1):c.5825G>C (p.Cys1942Ser)	FBN1	Pathogenic	15	48737665	48737665	C	G	criteria provided, single submitter	ClinGen:CA10587808