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.2945G>C (p.Cys982Ser)	FBN1	Pathogenic/Likely pathogenic	15	48782185	48782185	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606970
single nucleotide variant	NM_000138.5(FBN1):c.2810G>A (p.Cys937Tyr)	FBN1	Pathogenic	15	48784702	48784702	C	T	criteria provided, single submitter	ClinGen:CA16606971
single nucleotide variant	NM_000138.5(FBN1):c.2113+2T>G	FBN1	Pathogenic/Likely pathogenic	15	48795982	48795982	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606975
single nucleotide variant	NM_000138.5(FBN1):c.1774G>T (p.Gly592Cys)	FBN1	Likely pathogenic	15	48800842	48800842	C	A	criteria provided, single submitter	ClinGen:CA16606976
single nucleotide variant	NM_000138.5(FBN1):c.6793T>G (p.Cys2265Gly)	FBN1	Likely pathogenic	15	48722946	48722946	A	C	criteria provided, single submitter	ClinGen:CA16607084
single nucleotide variant	NM_000138.5(FBN1):c.6772T>C (p.Cys2258Arg)	FBN1	Pathogenic	15	48722967	48722967	A	G	criteria provided, single submitter	ClinGen:CA16607087
single nucleotide variant	NM_000138.5(FBN1):c.5595C>A (p.Cys1865Ter)	FBN1	Pathogenic	15	48741041	48741041	G	T	criteria provided, single submitter	ClinGen:CA16607089
single nucleotide variant	NM_000138.5(FBN1):c.1011C>A (p.Tyr337Ter)	FBN1	Pathogenic	15	48812992	48812992	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607110
single nucleotide variant	NM_000138.5(FBN1):c.461G>C (p.Cys154Ser)	FBN1	Likely pathogenic	15	48888557	48888557	C	G	criteria provided, single submitter	ClinGen:CA16607111
single nucleotide variant	NM_000138.5(FBN1):c.306C>A (p.Cys102Ter)	FBN1	Likely pathogenic	15	48902965	48902965	G	T	criteria provided, single submitter	ClinGen:CA16607112