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.7376G>T (p.Cys2459Phe)	FBN1	Likely pathogenic	15	48717643	48717643	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7376G>A (p.Cys2459Tyr)	FBN1	Likely pathogenic	15	48717643	48717643	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392327896
single nucleotide variant	NM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter)	FBN1	Pathogenic/Likely pathogenic	15	48717632	48717632	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7398C>G (p.Tyr2466Ter)	FBN1	Pathogenic	15	48717621	48717621	G	C	criteria provided, single submitter	-
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	-
single nucleotide variant	NM_000138.5(FBN1):c.7399C>T (p.Gln2467Ter)	FBN1	Pathogenic	15	48717620	48717620	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg)	FBN1	Pathogenic/Likely pathogenic	15	48717617	48717617	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392327790
single nucleotide variant	NM_000138.5(FBN1):c.7403G>A (p.Cys2468Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48717616	48717616	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392327788
single nucleotide variant	NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg)	FBN1	Likely pathogenic	15	48717611	48717611	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7409G>A (p.Cys2470Tyr)	FBN1	Pathogenic	15	48717610	48717610	C	T	criteria provided, single submitter	-