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.7936T>A (p.Cys2646Ser)	FBN1	Pathogenic	15	48707848	48707848	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7801C>T (p.Gln2601Ter)	FBN1	Pathogenic	15	48712902	48712902	G	A	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.7760del (p.Gly2587fs)	FBN1	Pathogenic	15	48712943	48712943	GC	G	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.7655_7656del (p.Cys2552fs)	FBN1	Pathogenic	15	48713798	48713799	GGC	G	criteria provided, single submitter	-
Indel	NM_000138.5(FBN1):c.7655_7656delinsAA (p.Cys2552Ter)	FBN1	Pathogenic	15	48713798	48713799	GC	TT	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7376G>T (p.Cys2459Phe)	FBN1	Likely pathogenic	15	48717643	48717643	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48717941	48717941	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.7221_7225del (p.Lys2407fs)	FBN1	Pathogenic	15	48718041	48718045	ATAACC	A	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.7178dup (p.Arg2394fs)	FBN1	Pathogenic	15	48719789	48719790	G	GC	criteria provided, single submitter	-
Insertion	NM_000138.5(FBN1):c.7119_7120insGGAC (p.His2374fs)	FBN1	Pathogenic	15	48719848	48719849	G	GGTCC	criteria provided, single submitter	-