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
Duplication	NM_000138.5(FBN1):c.6006_6012dup (p.Ser2005fs)	FBN1	Likely pathogenic	15	48736762	48736763	T	TGTATCCA	criteria provided, single submitter	ClinGen:CA281824
single nucleotide variant	NM_000138.5(FBN1):c.6385G>T (p.Asp2129Tyr)	FBN1	Likely pathogenic	15	48729269	48729269	C	A	criteria provided, single submitter	ClinGen:CA016393
single nucleotide variant	NM_000138.5(FBN1):c.649T>G (p.Trp217Gly)	FBN1	Likely pathogenic	15	48829895	48829895	A	C	criteria provided, single submitter	ClinGen:CA016532
Duplication	NM_000138.5(FBN1):c.6553_6556dup (p.Gly2186fs)	FBN1	Likely pathogenic	15	48726850	48726851	C	CCAAT	criteria provided, single submitter	ClinGen:CA281833
Deletion	NM_000138.5(FBN1):c.6704del (p.Gly2235fs)	FBN1	Likely pathogenic	15	48725098	48725098	TC	T	criteria provided, single submitter	ClinGen:CA016675
Duplication	NM_000138.5(FBN1):c.6793_6800dup (p.Leu2268fs)	FBN1	Likely pathogenic	15	48722938	48722939	G	GTTCTTGCA	criteria provided, single submitter	ClinGen:CA281834
single nucleotide variant	NM_000138.5(FBN1):c.7229A>C (p.His2410Pro)	FBN1	Likely pathogenic	15	48718037	48718037	T	G	criteria provided, single submitter	ClinGen:CA017104
Deletion	NM_000138.5(FBN1):c.7678del (p.Gln2560fs)	FBN1	Likely pathogenic	15	48713776	48713776	TG	T	criteria provided, single submitter	ClinGen:CA017330
single nucleotide variant	NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg)	FBN1	Likely pathogenic	15	48707905	48707905	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017435
single nucleotide variant	NM_000138.5(FBN1):c.7898G>C (p.Cys2633Ser)	FBN1	Likely pathogenic	15	48707886	48707886	C	G	criteria provided, single submitter	ClinGen:CA017457