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.2489G>C (p.Cys830Ser)	FBN1	Pathogenic/Likely pathogenic	15	48787716	48787716	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013145
single nucleotide variant	NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48787710	48787710	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013156
single nucleotide variant	NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp)	FBN1	Likely pathogenic	15	48787709	48787709	A	C	criteria provided, single submitter	ClinGen:CA013163
Indel	NM_000138.5(FBN1):c.268_269delinsC (p.Gly90fs)	FBN1	Likely pathogenic	15	48903002	48903003	CC	G	criteria provided, single submitter	ClinGen:CA013333
Duplication	NM_000138.5(FBN1):c.2691dup (p.Lys898Ter)	FBN1	Likely pathogenic	15	48786437	48786438	T	TA	criteria provided, single submitter	ClinGen:CA013358
Deletion	NM_000138.5(FBN1):c.2833del (p.Ala945fs)	FBN1	Likely pathogenic	15	48784679	48784679	GC	G	criteria provided, single submitter	ClinGen:CA013437
single nucleotide variant	NM_000138.5(FBN1):c.2855-1G>A	FBN1	Pathogenic	15	48782276	48782276	C	T	criteria provided, single submitter	ClinGen:CA013445
single nucleotide variant	NM_000138.5(FBN1):c.299G>T (p.Cys100Phe)	FBN1	Likely pathogenic	15	48902972	48902972	C	A	criteria provided, single submitter	ClinGen:CA013619
single nucleotide variant	NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter)	FBN1	Pathogenic/Likely pathogenic	15	48782118	48782118	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013641
Deletion	NM_000138.5(FBN1):c.32_42del (p.Leu11fs)	FBN1	Likely pathogenic	15	48936925	48936935	CGGTAAATCCCA	C	criteria provided, single submitter	ClinGen:CA013699