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.2303A>C (p.Glu768Ala)	FBN1	Likely pathogenic	15	48788413	48788413	T	G	criteria provided, single submitter	ClinGen:CA012946
single nucleotide variant	NM_000138.5(FBN1):c.2293+5G>A	FBN1	Likely pathogenic	15	48789458	48789458	C	T	criteria provided, single submitter	ClinGen:CA012929
Deletion	NM_000138.5(FBN1):c.2262_2263del (p.Tyr754_Glu755delinsTer)	FBN1	Likely pathogenic	15	48789493	48789494	TCA	T	criteria provided, single submitter	ClinGen:CA012921
single nucleotide variant	NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys)	FBN1	Likely pathogenic	15	48789529	48789529	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012886
single nucleotide variant	NM_000138.5(FBN1):c.2201G>T (p.Cys734Phe)	FBN1	Pathogenic	15	48789555	48789555	C	A	criteria provided, single submitter	ClinGen:CA012879
single nucleotide variant	NM_000138.5(FBN1):c.2180G>A (p.Cys727Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48789576	48789576	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000138.5(FBN1):c.2180dup (p.Cys727fs)	FBN1	Pathogenic	15	48789575	48789576	A	AC	criteria provided, single submitter	ClinGen:CA304344
single nucleotide variant	NM_000138.5(FBN1):c.2055C>A (p.Cys685Ter)	FBN1	Pathogenic	15	48796042	48796042	G	T	criteria provided, single submitter	ClinGen:CA012720
single nucleotide variant	NM_000138.5(FBN1):c.1890C>A (p.Asn630Lys)	FBN1	Pathogenic	15	48797292	48797292	G	T	criteria provided, single submitter	ClinGen:CA012666
single nucleotide variant	NM_000138.5(FBN1):c.1889A>T (p.Asn630Ile)	FBN1	Pathogenic	15	48797293	48797293	T	A	criteria provided, single submitter	ClinGen:CA012657