マルファン症候群

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.6169C>T (p.Arg2057Ter)	FBN1	Pathogenic	15	48730109	48730109	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016275
single nucleotide variant	NM_000138.5(FBN1):c.6164-2A>T	FBN1	Pathogenic	15	48730116	48730116	T	A	criteria provided, single submitter	ClinGen:CA016263
Deletion	NM_000138.5(FBN1):c.6129del (p.Ser2045fs)	FBN1	Pathogenic	15	48733952	48733952	AC	A	criteria provided, single submitter	ClinGen:CA016254
Duplication	NM_000138.5(FBN1):c.5957dup (p.Gly1987fs)	FBN1	Pathogenic	15	48736817	48736818	T	TG	criteria provided, single submitter	ClinGen:CA304349
Deletion	NM_000138.5(FBN1):c.5893del (p.Ala1965fs)	FBN1	Pathogenic	15	48737597	48737597	GC	G	criteria provided, single submitter	ClinGen:CA016157
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.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.5801G>A (p.Cys1934Tyr)	FBN1	Pathogenic	15	48737689	48737689	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016083
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.5746T>C (p.Cys1916Arg)	FBN1	Pathogenic	15	48738945	48738945	A	G	criteria provided, single submitter	ClinGen:CA016016