マルファン症候群

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.7410C>G (p.Cys2470Trp)	FBN1	Pathogenic/Likely pathogenic	15	48717609	48717609	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.7412del (p.Pro2471fs)	FBN1	Pathogenic	15	48717607	48717607	CG	C	criteria provided, single submitter	ClinGen:CA658798044
Deletion	NM_000138.5(FBN1):c.7421del (p.Tyr2474fs)	FBN1	Pathogenic	15	48717598	48717598	GT	G	criteria provided, single submitter	ClinGen:CA16614790
single nucleotide variant	NM_000138.5(FBN1):c.7421A>G (p.Tyr2474Cys)	FBN1	Likely pathogenic	15	48717598	48717598	T	C	criteria provided, single submitter	ClinGen:CA353668
single nucleotide variant	NM_000138.5(FBN1):c.7432G>T (p.Glu2478Ter)	FBN1	Pathogenic	15	48717587	48717587	C	A	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.7432_7435del (p.Glu2478fs)	FBN1	Likely pathogenic	15	48717584	48717587	TCCTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043002
single nucleotide variant	NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg)	FBN1	Pathogenic/Likely pathogenic	15	48717572	48717572	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7453+1G>T	FBN1	Likely pathogenic	15	48717565	48717565	C	A	criteria provided, single submitter	ClinGen:CA017211
single nucleotide variant	NM_000138.5(FBN1):c.7454A>G (p.Asp2485Gly)	FBN1	Likely pathogenic	15	48714265	48714265	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392326285
single nucleotide variant	NM_000138.5(FBN1):c.7465T>C (p.Cys2489Arg)	FBN1	Pathogenic	15	48714254	48714254	A	G	criteria provided, single submitter	ClinGen:CA16606955