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.4459+2T>G	FBN1	Likely pathogenic	15	48762829	48762829	A	C	criteria provided, single submitter	ClinGen:CA392354189
single nucleotide variant	NM_000138.5(FBN1):c.4891T>A (p.Cys1631Ser)	FBN1	Likely pathogenic	15	48757816	48757816	A	T	criteria provided, single submitter	ClinGen:CA392351157
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.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.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.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.3082G>A (p.Asp1028Asn)	FBN1	Likely pathogenic	15	48782048	48782048	C	T	criteria provided, single submitter	ClinGen:CA392328848
single nucleotide variant	NM_000138.5(FBN1):c.3131G>T (p.Cys1044Phe)	FBN1	Likely pathogenic	15	48780642	48780642	C	A	criteria provided, single submitter	ClinGen:CA392328137
Deletion	NM_000138.5(FBN1):c.3839-5_3842del	FBN1	Likely pathogenic	15	48773974	48773982	GACATCTGTA	G	criteria provided, single submitter	ClinGen:CA658656489
single nucleotide variant	NM_000138.5(FBN1):c.4831C>T (p.Gln1611Ter)	FBN1	Likely pathogenic	15	48757876	48757876	G	A	criteria provided, single submitter	ClinGen:CA392351363