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.1817C>A (p.Ser606Ter)	FBN1	Pathogenic/Likely pathogenic	15	48800799	48800799	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012566
single nucleotide variant	NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly)	FBN1	Pathogenic/Likely pathogenic	15	48800857	48800857	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1726T>G (p.Cys576Gly)	FBN1	Pathogenic/Likely pathogenic	15	48800890	48800890	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012523
single nucleotide variant	NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter)	FBN1	Pathogenic	15	48802262	48802262	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012467
Duplication	NM_000138.5(FBN1):c.1679dup (p.Phe561fs)	FBN1	Pathogenic	15	48802275	48802276	G	GC	criteria provided, single submitter	ClinGen:CA304341
single nucleotide variant	NM_000138.5(FBN1):c.1664G>T (p.Cys555Phe)	FBN1	Pathogenic	15	48802291	48802291	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012433
Deletion	NM_000138.5(FBN1):c.1624_1634del (p.Asn542fs)	FBN1	Pathogenic	15	48802321	48802331	GCGTCCATTATT	G	criteria provided, single submitter	ClinGen:CA012323
single nucleotide variant	NM_000138.5(FBN1):c.1583G>A (p.Cys528Tyr)	FBN1	Likely pathogenic	15	48805751	48805751	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012283
single nucleotide variant	NM_000138.5(FBN1):c.1552G>A (p.Gly518Arg)	FBN1	Likely pathogenic	15	48805782	48805782	C	T	criteria provided, single submitter	ClinGen:CA012241
single nucleotide variant	NM_000138.5(FBN1):c.1468+2T>C	FBN1	Pathogenic	15	48807582	48807582	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012180