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.7806G>A (p.Trp2602Ter)	FBN1	Pathogenic/Likely pathogenic	15	48712897	48712897	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017375
single nucleotide variant	NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)	FBN1	Pathogenic/Likely pathogenic	15	48782210	48782210	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013513,OMIM:134797.0063
single nucleotide variant	NM_000138.5(FBN1):c.1148-2A>G	FBN1	Pathogenic/Likely pathogenic	15	48808561	48808561	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011982
single nucleotide variant	NM_000138.5(FBN1):c.1468+5G>A	FBN1	Pathogenic/Likely pathogenic	15	48807579	48807579	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012192
single nucleotide variant	NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48802354	48802354	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012313
single nucleotide variant	NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg)	FBN1	Pathogenic/Likely pathogenic	15	48789514	48789514	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012895
single nucleotide variant	NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg)	FBN1	Pathogenic/Likely pathogenic	15	48788375	48788375	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012967
single nucleotide variant	NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48905215	48905215	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012984
single nucleotide variant	NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser)	FBN1	Pathogenic/Likely pathogenic	15	48787716	48787716	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013145
single nucleotide variant	NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48787710	48787710	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013156