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.1760G>A (p.Cys587Tyr)	FBN1	Pathogenic	15	48800856	48800856	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly)	FBN1	Pathogenic/Likely pathogenic	15	48800857	48800857	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu)	FBN1	Likely pathogenic	15	48800862	48800862	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1727G>A (p.Cys576Tyr)	FBN1	Pathogenic	15	48800889	48800889	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1726T>G (p.Cys576Gly)	FBN1	Pathogenic/Likely pathogenic	15	48800890	48800890	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012523
Deletion	NM_000138.5(FBN1):c.1714+2del	FBN1	Likely pathogenic	15	48802239	48802239	TA	T	criteria provided, single submitter	ClinGen:CA10576991
single nucleotide variant	NM_000138.5(FBN1):c.1710T>A (p.Cys570Ter)	FBN1	Pathogenic/Likely pathogenic	15	48802245	48802245	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012495
single nucleotide variant	NM_000138.5(FBN1):c.1710T>G (p.Cys570Trp)	FBN1	Pathogenic	15	48802245	48802245	A	C	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.1709del (p.Cys570fs)	FBN1	Pathogenic/Likely pathogenic	15	48802246	48802246	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012482
single nucleotide variant	NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr)	FBN1	Pathogenic	15	48802246	48802246	C	T	criteria provided, multiple submitters, no conflicts	-