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
Duplication	NM_000138.5(FBN1):c.3432dup (p.Gln1145fs)	FBN1	Pathogenic	15	48779539	48779540	G	GA	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3272G>A (p.Gly1091Glu)	FBN1	Likely pathogenic	15	48780375	48780375	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3013G>T (p.Glu1005Ter)	FBN1	Pathogenic	15	48782117	48782117	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2113+1G>T	FBN1	Pathogenic	15	48795983	48795983	C	A	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.1948del (p.Arg650fs)	FBN1	Pathogenic	15	48797234	48797234	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1868G>A (p.Cys623Tyr)	FBN1	Pathogenic	15	48797314	48797314	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1138A>T (p.Arg380Ter)	FBN1	Pathogenic	15	48812865	48812865	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.247+3A>C	FBN1	Likely pathogenic	15	48905204	48905204	T	G	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.126del (p.Lys43fs)	FBN1	Pathogenic	15	48936841	48936841	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1A>T (p.Met1Leu)	FBN1	Pathogenic	15	48936966	48936966	T	A	criteria provided, single submitter	-