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.7398C>A (p.Tyr2466Ter)	FBN1	Pathogenic	15	48717621	48717621	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000138.5(FBN1):c.7371dup (p.Ile2458fs)	FBN1	Pathogenic	15	48717647	48717648	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7324T>A (p.Cys2442Ser)	FBN1	Pathogenic	15	48717942	48717942	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7204+1G>T	FBN1	Pathogenic	15	48719763	48719763	C	A	reviewed by expert panel	-
single nucleotide variant	NM_000138.5(FBN1):c.7082C>A (p.Ser2361Ter)	FBN1	Pathogenic	15	48719886	48719886	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6952T>C (p.Cys2318Arg)	FBN1	Pathogenic	15	48720588	48720588	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6947G>A (p.Cys2316Tyr)	FBN1	Pathogenic	15	48720593	48720593	C	T	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.6916_6934del (p.Arg2306fs)	FBN1	Pathogenic	15	48720606	48720624	CCACGGGTGTTGAGGCAGCG	C	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.6932dup (p.Gly2312fs)	FBN1	Pathogenic	15	48720607	48720608	A	AC	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6883T>G (p.Cys2295Gly)	FBN1	Likely pathogenic	15	48720657	48720657	A	C	criteria provided, single submitter	-