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.3G>A (p.Met1Ile)	FBN1	Pathogenic	15	48936964	48936964	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392454056
single nucleotide variant	NM_000138.5(FBN1):c.3G>T (p.Met1Ile)	FBN1	Pathogenic	15	48936964	48936964	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587866
single nucleotide variant	NM_000138.5(FBN1):c.7C>T (p.Arg3Ter)	FBN1	Pathogenic	15	48936960	48936960	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587869
single nucleotide variant	NM_000138.5(FBN1):c.32T>G (p.Leu11Arg)	FBN1	Likely pathogenic	15	48936935	48936935	A	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.32_42del (p.Leu11fs)	FBN1	Likely pathogenic	15	48936925	48936935	CGGTAAATCCCA	C	criteria provided, single submitter	ClinGen:CA013699
Deletion	NM_000138.4(FBN1):c.40_49del (p.Phe13_Thr14insTer)	FBN1	Pathogenic	15	48936918	48936927	AAAAGCACGGT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.56C>T (p.Ser19Phe)	FBN1	Likely pathogenic	15	48936911	48936911	G	A	criteria provided, single submitter	ClinGen:CA015969
single nucleotide variant	NM_000138.5(FBN1):c.60C>A (p.Tyr20Ter)	FBN1	Likely pathogenic	15	48936907	48936907	G	T	criteria provided, single submitter	ClinGen:CA16607819
Deletion	NM_000138.5(FBN1):c.111del (p.Arg38fs)	FBN1	Pathogenic	15	48936856	48936856	TG	T	criteria provided, single submitter	ClinGen:CA658798379
Deletion	NM_000138.5(FBN1):c.126del (p.Lys43fs)	FBN1	Pathogenic	15	48936841	48936841	TG	T	criteria provided, single submitter	-