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.6209G>T (p.Cys2070Phe)	FBN1	Likely pathogenic	15	48730069	48730069	C	A	criteria provided, single submitter	ClinGen:CA16614630
single nucleotide variant	NM_000138.5(FBN1):c.6164-1G>A	FBN1	Pathogenic	15	48730115	48730115	C	T	criteria provided, single submitter	ClinGen:CA16614631
single nucleotide variant	NM_000138.5(FBN1):c.6159C>A (p.Cys2053Ter)	FBN1	Pathogenic	15	48733922	48733922	G	T	criteria provided, single submitter	ClinGen:CA16614635
Deletion	NM_000138.5(FBN1):c.5823_5824del (p.Cys1942fs)	FBN1	Pathogenic	15	48737666	48737667	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614638
single nucleotide variant	NM_000138.5(FBN1):c.5627G>A (p.Cys1876Tyr)	FBN1	Pathogenic	15	48741009	48741009	C	T	criteria provided, single submitter	ClinGen:CA16614640
single nucleotide variant	NM_000138.5(FBN1):c.5207G>A (p.Cys1736Tyr)	FBN1	Likely pathogenic	15	48755296	48755296	C	T	criteria provided, single submitter	ClinGen:CA16614644
single nucleotide variant	NM_000138.5(FBN1):c.4468G>T (p.Glu1490Ter)	FBN1	Pathogenic	15	48760723	48760723	C	A	criteria provided, single submitter	ClinGen:CA16614646
single nucleotide variant	NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter)	FBN1	Pathogenic	15	48766751	48766751	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614649
Duplication	NM_000138.5(FBN1):c.3895dup (p.Thr1299fs)	FBN1	Pathogenic	15	48773920	48773921	G	GT	criteria provided, single submitter	ClinGen:CA16614651
single nucleotide variant	NM_000138.5(FBN1):c.2305T>C (p.Cys769Arg)	FBN1	Pathogenic/Likely pathogenic	15	48788411	48788411	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614664