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.4293C>G (p.Cys1431Trp)	FBN1	Pathogenic	15	48764791	48764791	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA269519916
single nucleotide variant	NM_000138.5(FBN1):c.4293C>A (p.Cys1431Ter)	FBN1	Pathogenic	15	48764791	48764791	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392317689
single nucleotide variant	NM_000138.5(FBN1):c.4244G>A (p.Cys1415Tyr)	FBN1	Likely pathogenic	15	48764840	48764840	C	T	criteria provided, single submitter	ClinGen:CA392317993
single nucleotide variant	NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48766769	48766769	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392320494
Duplication	NM_000138.5(FBN1):c.3962dup (p.Asp1322fs)	FBN1	Pathogenic	15	48773853	48773854	T	TG	criteria provided, single submitter	ClinGen:CA658656486
Deletion	NM_000138.5(FBN1):c.3098del (p.Lys1033fs)	FBN1	Pathogenic	15	48780675	48780675	CT	C	criteria provided, single submitter	ClinGen:CA658656492
single nucleotide variant	NM_000138.5(FBN1):c.2873G>C (p.Cys958Ser)	FBN1	Likely pathogenic	15	48782257	48782257	C	G	criteria provided, single submitter	ClinGen:CA392330133
single nucleotide variant	NM_000138.5(FBN1):c.2738A>C (p.Glu913Ala)	FBN1	Likely pathogenic	15	48784774	48784774	T	G	criteria provided, single submitter	ClinGen:CA392330886
single nucleotide variant	NM_000138.5(FBN1):c.2626T>C (p.Cys876Arg)	FBN1	Pathogenic	15	48787371	48787371	A	G	criteria provided, single submitter	ClinGen:CA392332322
single nucleotide variant	NM_000138.5(FBN1):c.1670G>T (p.Cys557Phe)	FBN1	Pathogenic	15	48802285	48802285	C	A	criteria provided, single submitter	ClinGen:CA392341047