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.2939G>T (p.Cys980Phe)	FBN1	Likely pathogenic	15	48782191	48782191	C	A	criteria provided, single submitter	ClinGen:CA392329615
single nucleotide variant	NM_000138.5(FBN1):c.3024T>A (p.Cys1008Ter)	FBN1	Likely pathogenic	15	48782106	48782106	A	T	criteria provided, single submitter	ClinGen:CA392328996
single nucleotide variant	NM_000138.5(FBN1):c.5587G>A (p.Gly1863Arg)	FBN1	Likely pathogenic	15	48741049	48741049	C	T	criteria provided, single submitter	ClinGen:CA392342167
single nucleotide variant	NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr)	FBN1	Likely pathogenic	15	48725113	48725113	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392333422
single nucleotide variant	NM_000138.5(FBN1):c.3513C>G (p.Cys1171Trp)	FBN1	Likely pathogenic	15	48779348	48779348	G	C	criteria provided, single submitter	ClinGen:CA392325180
single nucleotide variant	NM_000138.5(FBN1):c.1079G>A (p.Cys360Tyr)	FBN1	Likely pathogenic	15	48812924	48812924	C	T	criteria provided, single submitter	ClinGen:CA392347507
single nucleotide variant	NM_000138.5(FBN1):c.3616G>C (p.Gly1206Arg)	FBN1	Likely pathogenic	15	48777667	48777667	C	G	criteria provided, single submitter	ClinGen:CA392324626
single nucleotide variant	NM_000138.5(FBN1):c.3794G>C (p.Cys1265Ser)	FBN1	Likely pathogenic	15	48776059	48776059	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392323789
Duplication	NM_000138.5(FBN1):c.4582+2dup	FBN1	Likely pathogenic	15	48760606	48760607	T	TA	criteria provided, single submitter	ClinGen:CA658656480
single nucleotide variant	NM_000138.5(FBN1):c.4747+5G>T	FBN1	Likely pathogenic	15	48760130	48760130	C	A	criteria provided, single submitter	ClinGen:CA658656473