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.2293+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48789462	48789462	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614665
single nucleotide variant	NM_000138.5(FBN1):c.2080G>T (p.Glu694Ter)	FBN1	Pathogenic/Likely pathogenic	15	48796017	48796017	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614667
single nucleotide variant	NM_000138.5(FBN1):c.1982G>A (p.Cys661Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48796115	48796115	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614668
Indel	NM_000138.4(FBN1):c.1888_1889delinsC (p.Asn630fs)	FBN1	Pathogenic	15	48797293	48797294	TT	G	criteria provided, single submitter	ClinGen:CA16614669
single nucleotide variant	NM_000138.5(FBN1):c.1538G>T (p.Cys513Phe)	FBN1	Likely pathogenic	15	48805796	48805796	C	A	reviewed by expert panel	ClinGen:CA16614674
single nucleotide variant	NM_000138.5(FBN1):c.1525G>T (p.Gly509Cys)	FBN1	Likely pathogenic	15	48805809	48805809	C	A	criteria provided, single submitter	ClinGen:CA16614676
single nucleotide variant	NM_000138.5(FBN1):c.1426T>C (p.Cys476Arg)	FBN1	Likely pathogenic	15	48807626	48807626	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614683
single nucleotide variant	NM_000138.5(FBN1):c.811T>G (p.Cys271Gly)	FBN1	Likely pathogenic	15	48826328	48826328	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614684
Deletion	NM_000138.5(FBN1):c.799_805del (p.Gly267fs)	FBN1	Likely pathogenic	15	48826334	48826340	AAAGACCC	A	reviewed by expert panel	ClinGen:CA16614686
Deletion	NC_000015.10:g.(?_48470634)_(48470756_?)del	FBN1	Likely pathogenic	15	48762831	48762953	na	na	criteria provided, single submitter	-