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.6496G>T (p.Asp2166Tyr)	FBN1	Likely pathogenic	15	48729158	48729158	C	A	criteria provided, single submitter	ClinGen:CA016518
single nucleotide variant	NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)	FBN1	Pathogenic	15	48729201	48729201	G	A	reviewed by expert panel	ClinGen:CA016495
single nucleotide variant	NM_000138.5(FBN1):c.6453C>G (p.Cys2151Trp)	FBN1	Pathogenic	15	48729201	48729201	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016487
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
Duplication	NM_000138.5(FBN1):c.6406_6407dup (p.Cys2137fs)	FBN1	Pathogenic	15	48729246	48729247	G	GAC	criteria provided, single submitter	ClinGen:CA304353
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.6313G>C (p.Glu2105Gln)	FBN1	Likely pathogenic	15	48729965	48729965	C	G	criteria provided, single submitter	ClinGen:CA016334
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.6251G>T (p.Cys2084Phe)	FBN1	Likely pathogenic	15	48730027	48730027	C	A	criteria provided, single submitter	ClinGen:CA016301