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.7897T>C (p.Cys2633Arg)	FBN1	Likely pathogenic	15	48707887	48707887	A	G	criteria provided, single submitter	ClinGen:CA392323235
single nucleotide variant	NM_000138.5(FBN1):c.7865G>A (p.Cys2622Tyr)	FBN1	Likely pathogenic	15	48707919	48707919	C	T	criteria provided, single submitter	ClinGen:CA392323371
Duplication	NM_000138.5(FBN1):c.7780dup (p.Gln2594fs)	FBN1	Pathogenic	15	48712922	48712923	T	TG	criteria provided, single submitter	ClinGen:CA658798042
single nucleotide variant	NM_000138.5(FBN1):c.7742G>T (p.Cys2581Phe)	FBN1	Likely pathogenic	15	48712961	48712961	C	A	criteria provided, single submitter	ClinGen:CA392324751
single nucleotide variant	NM_000138.5(FBN1):c.7649G>C (p.Cys2550Ser)	FBN1	Likely pathogenic	15	48713805	48713805	C	G	criteria provided, single submitter	ClinGen:CA392325128
Deletion	NM_000138.5(FBN1):c.7412del (p.Pro2471fs)	FBN1	Pathogenic	15	48717607	48717607	CG	C	criteria provided, single submitter	ClinGen:CA658798044
single nucleotide variant	NM_000138.5(FBN1):c.7403G>A (p.Cys2468Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48717616	48717616	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392327788
single nucleotide variant	NM_000138.5(FBN1):c.7330+1G>A	FBN1	Pathogenic	15	48717935	48717935	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392328478
single nucleotide variant	NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter)	FBN1	Pathogenic	15	48718026	48718026	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA269520797
Deletion	NM_000138.5(FBN1):c.7120del (p.His2374fs)	FBN1	Pathogenic	15	48719848	48719848	TG	T	criteria provided, single submitter	ClinGen:CA658798046