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
Deletion	NM_000138.5(FBN1):c.3793_3799del (p.Cys1265fs)	FBN1	Pathogenic	15	48776054	48776060	TCATAACA	T	criteria provided, single submitter	ClinGen:CA658798367
single nucleotide variant	NM_000138.5(FBN1):c.2977T>C (p.Cys993Arg)	FBN1	Likely pathogenic	15	48782153	48782153	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392329308
single nucleotide variant	NM_000138.5(FBN1):c.2342G>A (p.Cys781Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48788374	48788374	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392335455
Indel	NM_000138.5(FBN1):c.2003delinsTGTAT (p.Gly668fs)	FBN1	Pathogenic	15	48796094	48796094	C	ATACA	criteria provided, single submitter	ClinGen:CA658798347
single nucleotide variant	NM_000138.5(FBN1):c.1915T>C (p.Cys639Arg)	FBN1	Pathogenic	15	48797267	48797267	A	G	criteria provided, single submitter	ClinGen:CA392339045
single nucleotide variant	NM_000138.5(FBN1):c.400T>C (p.Cys134Arg)	FBN1	Pathogenic	15	48892378	48892378	A	G	criteria provided, single submitter	ClinGen:CA392446523
Deletion	NC_000015.10:g.(?_48444521)_(48445524_?)del	FBN1	Likely pathogenic	15	48736718	48737721	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48610708)_(48613112_?)del	FBN1	Pathogenic	15	48902905	48905309	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7605C>A (p.Cys2535Ter)	FBN1	Pathogenic	15	48713849	48713849	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392325737
single nucleotide variant	NM_000138.5(FBN1):c.7298A>G (p.Tyr2433Cys)	FBN1	Likely pathogenic	15	48717968	48717968	T	C	criteria provided, single submitter	ClinGen:CA392328543