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.2849G>C (p.Cys950Ser)	FBN1	Pathogenic	15	48784663	48784663	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.8591T>C (p.Met2864Thr)	FBN1	Likely pathogenic	15	48703212	48703212	A	G	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.8259del (p.Ala2754fs)	FBN1	Pathogenic	15	48703544	48703544	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.8145T>A (p.Cys2715Ter)	FBN1	Pathogenic	15	48704847	48704847	A	T	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.8101_8102del (p.Val2701fs)	FBN1	Pathogenic	15	48704890	48704891	GAC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.8092G>T (p.Glu2698Ter)	FBN1	Pathogenic	15	48704900	48704900	C	A	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.7987_8004del (p.Cys2663_Gly2668del)	FBN1	Likely pathogenic	15	48707780	48707797	CGCCCTCGGTATTGGAACA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7988G>A (p.Cys2663Tyr)	FBN1	Pathogenic	15	48707796	48707796	C	T	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.7959del (p.Ser2654fs)	FBN1	Pathogenic	15	48707825	48707825	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7937G>A (p.Cys2646Tyr)	FBN1	Pathogenic	15	48707847	48707847	C	T	criteria provided, single submitter	-