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.6425G>A (p.Cys2142Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48729229	48729229	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016442
single nucleotide variant	NM_000138.5(FBN1):c.6418G>A (p.Gly2140Arg)	FBN1	Pathogenic/Likely pathogenic	15	48729236	48729236	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016435
single nucleotide variant	NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)	FBN1	Pathogenic/Likely pathogenic	15	48729266	48729266	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016399
single nucleotide variant	NM_000138.5(FBN1):c.6274T>C (p.Trp2092Arg)	FBN1	Pathogenic/Likely pathogenic	15	48730004	48730004	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA016311
single nucleotide variant	NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys)	FBN1	Pathogenic/Likely pathogenic	15	48744873	48744873	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015799
single nucleotide variant	NM_000138.5(FBN1):c.5015G>A (p.Cys1672Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48756146	48756146	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015547
single nucleotide variant	NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter)	FBN1	Pathogenic/Likely pathogenic	15	48757777	48757777	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015467
single nucleotide variant	NM_000138.5(FBN1):c.4337-2A>G	FBN1	Pathogenic/Likely pathogenic	15	48762955	48762955	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA014969
single nucleotide variant	NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn)	FBN1	Pathogenic/Likely pathogenic	15	48764748	48764748	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014954
single nucleotide variant	NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)	FBN1	Pathogenic/Likely pathogenic	15	48766566	48766566	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014760