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.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.299G>T (p.Cys100Phe)	FBN1	Likely pathogenic	15	48902972	48902972	C	A	criteria provided, single submitter	ClinGen:CA013619
Deletion	NM_000138.5(FBN1):c.32_42del (p.Leu11fs)	FBN1	Likely pathogenic	15	48936925	48936935	CGGTAAATCCCA	C	criteria provided, single submitter	ClinGen:CA013699
single nucleotide variant	NM_000138.5(FBN1):c.3392A>G (p.Asn1131Ser)	FBN1	Likely pathogenic	15	48779580	48779580	T	C	criteria provided, single submitter	ClinGen:CA014058
single nucleotide variant	NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg)	FBN1	Likely pathogenic	15	48773930	48773930	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA014615
single nucleotide variant	NM_000138.5(FBN1):c.4048T>A (p.Cys1350Ser)	FBN1	Likely pathogenic	15	48766764	48766764	A	T	criteria provided, single submitter	ClinGen:CA014710
single nucleotide variant	NM_000138.5(FBN1):c.4160A>G (p.Tyr1387Cys)	FBN1	Likely pathogenic	15	48766502	48766502	T	C	criteria provided, single submitter	ClinGen:CA014815
Deletion	NM_000138.5(FBN1):c.4251_4259del (p.Gly1418_Cys1420del)	FBN1	Likely pathogenic	15	48764825	48764833	GCACTGGCCA	G	criteria provided, single submitter	ClinGen:CA014885
single nucleotide variant	NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr)	FBN1	Likely pathogenic	15	48762923	48762923	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015004
single nucleotide variant	NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro)	FBN1	Likely pathogenic	15	48762884	48762884	C	G	criteria provided, single submitter	ClinGen:CA015037