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.7039_7040del (p.Met2347fs)	FBN1	Pathogenic	15	48719928	48719929	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016944
single nucleotide variant	NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)	FBN1	Likely pathogenic	15	48719965	48719965	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000138.5(FBN1):c.6871+1G>T	FBN1	Pathogenic	15	48722867	48722867	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6871G>A (p.Asp2291Asn)	FBN1	Pathogenic	15	48722868	48722868	C	T	criteria provided, single submitter	ClinGen:CA016793
single nucleotide variant	NM_000138.5(FBN1):c.6752G>A (p.Cys2251Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48722987	48722987	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016730
Duplication	NM_000138.5(FBN1):c.6722_6725dup (p.Arg2243fs)	FBN1	Pathogenic	15	48725076	48725077	A	ACGGT	criteria provided, single submitter	ClinGen:CA304354
single nucleotide variant	NM_000138.5(FBN1):c.6656T>G (p.Phe2219Cys)	FBN1	Likely pathogenic	15	48725146	48725146	A	C	criteria provided, single submitter	ClinGen:CA016615
single nucleotide variant	NM_000138.5(FBN1):c.6650G>A (p.Cys2217Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48725152	48725152	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016598
single nucleotide variant	NM_000138.5(FBN1):c.6630T>A (p.Cys2210Ter)	FBN1	Pathogenic	15	48725172	48725172	A	T	criteria provided, single submitter	ClinGen:CA016582
single nucleotide variant	NM_000138.5(FBN1):c.6628T>C (p.Cys2210Arg)	FBN1	Pathogenic/Likely pathogenic	15	48725174	48725174	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA016575