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
Deletion	NM_000138.5(FBN1):c.8605_8606del (p.Leu2869fs)	FBN1	Likely pathogenic	15	48703197	48703198	CAA	C	criteria provided, single submitter	ClinGen:CA017840
single nucleotide variant	NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro)	FBN1	Likely pathogenic	15	48703203	48703203	T	G	criteria provided, single submitter	ClinGen:CA017835
single nucleotide variant	NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter)	FBN1	Likely pathogenic	15	48703320	48703320	G	C	criteria provided, single submitter	ClinGen:CA017783
single nucleotide variant	NM_000138.5(FBN1):c.8267G>A (p.Trp2756Ter)	FBN1	Pathogenic	15	48703536	48703536	C	T	criteria provided, single submitter	ClinGen:CA017666
single nucleotide variant	NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48707829	48707829	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017477
single nucleotide variant	NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg)	FBN1	Pathogenic/Likely pathogenic	15	48713848	48713848	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017296
single nucleotide variant	NM_000138.5(FBN1):c.7580A>C (p.Glu2527Ala)	FBN1	Likely pathogenic	15	48713874	48713874	T	G	criteria provided, single submitter	ClinGen:CA017263
Deletion	NM_000138.5(FBN1):c.7497_7498del (p.Cys2500_Val2501insTer)	FBN1	Likely pathogenic	15	48714221	48714222	CAT	C	criteria provided, single submitter	ClinGen:CA017216
single nucleotide variant	NM_000138.5(FBN1):c.7453+1G>T	FBN1	Likely pathogenic	15	48717565	48717565	C	A	criteria provided, single submitter	ClinGen:CA017211
single nucleotide variant	NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter)	FBN1	Pathogenic	15	48719788	48719788	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017052