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.4331G>A (p.Cys1444Tyr)	FBN1	Likely pathogenic	15	48764753	48764753	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587827
Deletion	NM_000138.5(FBN1):c.4562del (p.Pro1521fs)	FBN1	Pathogenic/Likely pathogenic	15	48760629	48760629	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587829
single nucleotide variant	NM_000138.5(FBN1):c.3669T>A (p.Cys1223Ter)	FBN1	Pathogenic	15	48777614	48777614	A	T	criteria provided, single submitter	ClinGen:CA10587833
single nucleotide variant	NM_000138.5(FBN1):c.3584G>A (p.Cys1195Tyr)	FBN1	Likely pathogenic	15	48779277	48779277	C	T	criteria provided, single submitter	ClinGen:CA10587834
single nucleotide variant	NM_000138.5(FBN1):c.3209-1G>C	FBN1	Pathogenic	15	48780439	48780439	C	G	criteria provided, single submitter	ClinGen:CA10587835
single nucleotide variant	NM_000138.5(FBN1):c.3082+1G>C	FBN1	Pathogenic	15	48782047	48782047	C	G	criteria provided, single submitter	ClinGen:CA10587838
single nucleotide variant	NM_000138.5(FBN1):c.3159C>A (p.Cys1053Ter)	FBN1	Pathogenic	15	48780614	48780614	G	T	criteria provided, single submitter	ClinGen:CA10587840
Deletion	NM_000138.5(FBN1):c.2906del (p.Leu969fs)	FBN1	Pathogenic	15	48782224	48782224	CA	C	criteria provided, single submitter	ClinGen:CA10587841
single nucleotide variant	NM_000138.5(FBN1):c.2728+2T>C	FBN1	Likely pathogenic	15	48786399	48786399	A	G	criteria provided, single submitter	ClinGen:CA10587843
Deletion	NM_000138.5(FBN1):c.2725del (p.Glu909fs)	FBN1	Pathogenic	15	48786404	48786404	TC	T	criteria provided, single submitter	ClinGen:CA10587844