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.3412T>C (p.Cys1138Arg)	FBN1	Pathogenic	15	48779560	48779560	A	G	criteria provided, single submitter	ClinGen:CA392326402
single nucleotide variant	NM_000138.5(FBN1):c.3289T>C (p.Cys1097Arg)	FBN1	Likely pathogenic	15	48780358	48780358	A	G	criteria provided, single submitter	ClinGen:CA392327237
single nucleotide variant	NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly)	FBN1	Likely pathogenic	15	48780690	48780690	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392328329
Deletion	NM_000138.5(FBN1):c.2814del (p.Ser939fs)	FBN1	Pathogenic	15	48784698	48784698	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369635
single nucleotide variant	NM_000138.5(FBN1):c.737-2A>G	FBN1	Likely pathogenic	15	48826404	48826404	T	C	criteria provided, single submitter	ClinGen:CA392352921
single nucleotide variant	NM_000138.5(FBN1):c.8021G>A (p.Cys2674Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48707763	48707763	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392322605
single nucleotide variant	NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter)	FBN1	Pathogenic/Likely pathogenic	15	48729167	48729167	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392336293
single nucleotide variant	NM_000138.5(FBN1):c.6113G>A (p.Cys2038Tyr)	FBN1	Pathogenic	15	48733968	48733968	C	T	criteria provided, single submitter	ClinGen:CA269530715
single nucleotide variant	NM_000138.5(FBN1):c.4489T>C (p.Cys1497Arg)	FBN1	Likely pathogenic	15	48760702	48760702	A	G	criteria provided, single submitter	ClinGen:CA392353730
single nucleotide variant	NM_000138.5(FBN1):c.3977G>A (p.Cys1326Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48766835	48766835	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392320642