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.1420T>C (p.Cys474Arg)	FBN1	Likely pathogenic	15	48807632	48807632	A	G	criteria provided, single submitter	ClinGen:CA392343763
single nucleotide variant	NM_000138.5(FBN1):c.1148-1G>A	FBN1	Likely pathogenic	15	48808560	48808560	C	T	criteria provided, single submitter	ClinGen:CA392345749
single nucleotide variant	NM_000138.5(FBN1):c.503G>T (p.Cys168Phe)	FBN1	Pathogenic/Likely pathogenic	15	48888515	48888515	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392446296
single nucleotide variant	NM_000138.5(FBN1):c.871G>T (p.Glu291Ter)	FBN1	Pathogenic	15	48818444	48818444	C	A	criteria provided, single submitter	ClinGen:CA392350549
Deletion	NC_000015.10:g.(?_48410970)_(48497411_?)del	FBN1	Pathogenic	15	48703167	48789608	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48415161)_(48468554_?)del	FBN1	Pathogenic	15	48707358	48760751	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.8042T>G (p.Ile2681Arg)	FBN1	Likely pathogenic	15	48707742	48707742	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392322503
single nucleotide variant	NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter)	FBN1	Pathogenic	15	48719856	48719856	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392329714
single nucleotide variant	NM_000138.5(FBN1):c.6906T>G (p.Cys2302Trp)	FBN1	Likely pathogenic	15	48720634	48720634	A	C	criteria provided, single submitter	ClinGen:CA392330800
single nucleotide variant	NM_000138.5(FBN1):c.6616+1G>C	FBN1	Pathogenic	15	48726790	48726790	C	G	criteria provided, single submitter	ClinGen:CA392334565