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.6616+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48726790	48726790	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619943
single nucleotide variant	NM_000138.5(FBN1):c.6419G>A (p.Gly2140Glu)	FBN1	Likely pathogenic	15	48729235	48729235	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619944
single nucleotide variant	NM_000138.5(FBN1):c.6277G>A (p.Gly2093Arg)	FBN1	Likely pathogenic	15	48730001	48730001	C	T	criteria provided, single submitter	ClinGen:CA16619945
single nucleotide variant	NM_000138.5(FBN1):c.6112T>G (p.Cys2038Gly)	FBN1	Likely pathogenic	15	48733969	48733969	A	C	criteria provided, single submitter	ClinGen:CA16619946
single nucleotide variant	NM_000138.5(FBN1):c.6037+1G>A	FBN1	Likely pathogenic	15	48736737	48736737	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619947
Deletion	NM_000138.5(FBN1):c.6005del (p.Pro2002fs)	FBN1	Pathogenic	15	48736770	48736770	AG	A	criteria provided, single submitter	ClinGen:CA16619948
Deletion	NM_000138.5(FBN1):c.5789-8_5793del	FBN1	Pathogenic	15	48737697	48737709	CAACATCTGCAGAA	C	criteria provided, single submitter	ClinGen:CA16619949
Deletion	NM_000138.5(FBN1):c.5735del (p.Phe1912fs)	FBN1	Pathogenic	15	48738956	48738956	GA	G	criteria provided, single submitter	ClinGen:CA16619950
Deletion	NM_000138.5(FBN1):c.5686del (p.Glu1896fs)	FBN1	Pathogenic	15	48739005	48739005	TC	T	criteria provided, single submitter	ClinGen:CA16619951
single nucleotide variant	NM_000138.5(FBN1):c.5422+1G>A	FBN1	Pathogenic	15	48748833	48748833	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619952