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.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.8087del (p.Asn2696fs)	FBN1	Likely pathogenic	15	48704905	48704905	GT	G	criteria provided, single submitter	ClinGen:CA16614478
single nucleotide variant	NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)	FBN1	Pathogenic	15	48704912	48704912	G	A	reviewed by expert panel	ClinGen:CA017544
Deletion	NM_000138.5(FBN1):c.8064del (p.Gly2689fs)	FBN1	Pathogenic	15	48704928	48704928	CA	C	criteria provided, single submitter	ClinGen:CA017533
single nucleotide variant	NM_000138.5(FBN1):c.8056T>C (p.Cys2686Arg)	FBN1	Pathogenic	15	48704936	48704936	A	G	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48410970)_(48412763_?)del	FBN1	Pathogenic	15	48703167	48704960	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.8051+375G>T	FBN1	Pathogenic	15	48707358	48707358	C	A	criteria provided, single submitter	ClinGen:CA16614382
Indel	NM_000138.5(FBN1):c.8051_8051+1delinsT	FBN1	Pathogenic	15	48707732	48707733	CC	A	criteria provided, single submitter	ClinGen:CA658798346