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.6503A>G (p.Asp2168Gly)	FBN1	Likely pathogenic	15	48726904	48726904	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392335330
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.7880G>A (p.Gly2627Glu)	FBN1	Likely pathogenic	15	48707904	48707904	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392323342
Duplication	NM_000138.5(FBN1):c.7931_7934dup (p.Cys2646fs)	FBN1	Likely pathogenic	15	48707849	48707850	T	TCCTC	criteria provided, single submitter	ClinGen:CA658656464
single nucleotide variant	NM_000138.5(FBN1):c.8021G>C (p.Cys2674Ser)	FBN1	Likely pathogenic	15	48707763	48707763	C	G	criteria provided, single submitter	ClinGen:CA392322608
Duplication	NM_000138.5(FBN1):c.8360dup (p.Thr2788fs)	FBN1	Likely pathogenic	15	48703442	48703443	C	CA	criteria provided, single submitter	ClinGen:CA658656462
single nucleotide variant	NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn)	FBN1	Likely pathogenic	15	48726791	48726791	C	T	criteria provided, single submitter	ClinGen:CA392334571
single nucleotide variant	NM_000138.5(FBN1):c.1783A>T (p.Lys595Ter)	FBN1	Likely pathogenic	15	48800833	48800833	T	A	criteria provided, single submitter	ClinGen:CA392340340
single nucleotide variant	NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr)	FBN1	Likely pathogenic	15	48787328	48787328	C	T	reviewed by expert panel	ClinGen:CA392331935
single nucleotide variant	NM_000138.5(FBN1):c.3094T>C (p.Cys1032Arg)	FBN1	Likely pathogenic	15	48780679	48780679	A	G	criteria provided, single submitter	ClinGen:CA392328259