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.7498T>A (p.Cys2500Ser)	FBN1	Likely pathogenic	15	48714221	48714221	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA269519926
Deletion	NM_000138.5(FBN1):c.5861del (p.Phe1954fs)	FBN1	Pathogenic	15	48737629	48737629	GA	G	criteria provided, single submitter	ClinGen:CA658798343
single nucleotide variant	NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter)	FBN1	Pathogenic	15	48712915	48712915	G	T	criteria provided, single submitter	ClinGen:CA392324548
single nucleotide variant	NM_000138.5(FBN1):c.2896G>T (p.Glu966Ter)	FBN1	Pathogenic	15	48782234	48782234	C	A	criteria provided, single submitter	ClinGen:CA392329953
single nucleotide variant	NM_000138.5(FBN1):c.2168-1G>T	FBN1	Pathogenic	15	48789589	48789589	C	A	criteria provided, single submitter	ClinGen:CA392335952
Duplication	NM_000138.5(FBN1):c.8405dup (p.Phe2803fs)	FBN1	Pathogenic	15	48703397	48703398	G	GC	criteria provided, single submitter	ClinGen:CA658798337
Indel	NM_000138.5(FBN1):c.8051_8051+1delinsT	FBN1	Pathogenic	15	48707732	48707733	CC	A	criteria provided, single submitter	ClinGen:CA658798346
single nucleotide variant	NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly)	FBN1	Likely pathogenic	15	48707770	48707770	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392322650
single nucleotide variant	NM_000138.5(FBN1):c.8003G>A (p.Gly2668Asp)	FBN1	Likely pathogenic	15	48707781	48707781	C	T	criteria provided, single submitter	ClinGen:CA392322697
single nucleotide variant	NM_000138.5(FBN1):c.7977C>A (p.Cys2659Ter)	FBN1	Pathogenic	15	48707807	48707807	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392322844