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.5431G>A (p.Glu1811Lys)	FBN1	Pathogenic/Likely pathogenic	15	48744873	48744873	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015799
single nucleotide variant	NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr)	FBN1	Pathogenic	15	48738992	48738992	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015955
single nucleotide variant	NM_000138.5(FBN1):c.5700T>A (p.Cys1900Ter)	FBN1	Pathogenic	15	48738991	48738991	A	T	criteria provided, single submitter	ClinGen:CA015978
single nucleotide variant	NM_000138.5(FBN1):c.5746T>C (p.Cys1916Arg)	FBN1	Pathogenic	15	48738945	48738945	A	G	criteria provided, single submitter	ClinGen:CA016016
single nucleotide variant	NM_000138.5(FBN1):c.5767T>C (p.Ser1923Pro)	FBN1	Likely pathogenic	15	48738924	48738924	A	G	criteria provided, single submitter	ClinGen:CA016036
single nucleotide variant	NM_000138.5(FBN1):c.5801G>A (p.Cys1934Tyr)	FBN1	Pathogenic	15	48737689	48737689	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016083
Deletion	NM_000138.5(FBN1):c.5817del (p.Asn1940fs)	FBN1	Pathogenic	15	48737673	48737673	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016091
single nucleotide variant	NM_000138.5(FBN1):c.5825G>T (p.Cys1942Phe)	FBN1	Likely pathogenic	15	48737665	48737665	C	A	criteria provided, single submitter	ClinGen:CA016098
Deletion	NM_000138.5(FBN1):c.5893del (p.Ala1965fs)	FBN1	Pathogenic	15	48737597	48737597	GC	G	criteria provided, single submitter	ClinGen:CA016157
Duplication	NM_000138.5(FBN1):c.5957dup (p.Gly1987fs)	FBN1	Pathogenic	15	48736817	48736818	T	TG	criteria provided, single submitter	ClinGen:CA304349