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.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
Duplication	NM_000138.5(FBN1):c.1669_1677dup (p.Cys557_Ala559dup)	FBN1	Likely pathogenic	15	48802277	48802278	C	CCGCATTACA	criteria provided, single submitter	ClinGen:CA012454
single nucleotide variant	NM_000138.5(FBN1):c.1670G>A (p.Cys557Tyr)	FBN1	Pathogenic	15	48802285	48802285	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606733
single nucleotide variant	NM_000138.5(FBN1):c.1670G>T (p.Cys557Phe)	FBN1	Pathogenic	15	48802285	48802285	C	A	criteria provided, single submitter	ClinGen:CA392341047
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
single nucleotide variant	NM_000138.5(FBN1):c.1664G>A (p.Cys555Tyr)	FBN1	Pathogenic	15	48802291	48802291	C	T	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.1659del (p.His554fs)	FBN1	Pathogenic	15	48802296	48802296	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile)	FBN1	Pathogenic	15	48802312	48802312	T	A	criteria provided, single submitter	ClinGen:CA012380,OMIM:134797.0010
Deletion	NM_000138.5(FBN1):c.1624_1634del (p.Asn542fs)	FBN1	Pathogenic	15	48802321	48802331	GCGTCCATTATT	G	criteria provided, single submitter	ClinGen:CA012323