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.3094T>C (p.Cys1032Arg)	FBN1	Likely pathogenic	15	48780679	48780679	A	G	criteria provided, single submitter	ClinGen:CA392328259
single nucleotide variant	NM_000138.5(FBN1):c.3091G>A (p.Glu1031Lys)	FBN1	Pathogenic	15	48780682	48780682	C	T	criteria provided, single submitter	ClinGen:CA392328281
single nucleotide variant	NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr)	FBN1	Likely pathogenic	15	48787328	48787328	C	T	reviewed by expert panel	ClinGen:CA392331935
single nucleotide variant	NM_000138.5(FBN1):c.1846G>T (p.Glu616Ter)	FBN1	Pathogenic/Likely pathogenic	15	48797336	48797336	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392339193
single nucleotide variant	NM_000138.5(FBN1):c.1783A>T (p.Lys595Ter)	FBN1	Likely pathogenic	15	48800833	48800833	T	A	criteria provided, single submitter	ClinGen:CA392340340
Duplication	NM_000138.5(FBN1):c.1570dup (p.Thr524fs)	FBN1	Pathogenic	15	48805763	48805764	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645373009
single nucleotide variant	NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn)	FBN1	Likely pathogenic	15	48726791	48726791	C	T	criteria provided, single submitter	ClinGen:CA392334571
single nucleotide variant	NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter)	FBN1	Pathogenic	15	48713798	48713798	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392325096
single nucleotide variant	NM_000138.5(FBN1):c.6087C>A (p.Cys2029Ter)	FBN1	Pathogenic	15	48733994	48733994	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392338394
Deletion	NM_000138.5(FBN1):c.3856del (p.Asp1285_Leu1286insTer)	FBN1	Pathogenic	15	48773960	48773960	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509190