動脈蛇行症候群

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_030777.4(SLC2A10):c.1288+2T>C	SLC2A10	Likely pathogenic	20	45354965	45354965	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys)	SLC2A10	Pathogenic/Likely pathogenic	20	45355523	45355523	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347770,UniProtKB:O95528#VAR_042423
single nucleotide variant	NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter)	SLC2A10	Pathogenic/Likely pathogenic	20	45355544	45355544	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347799
Deletion	NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)	SLC2A10	Pathogenic	20	45355547	45355547	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA321816,OMIM:606145.0003
single nucleotide variant	NM_030777.4(SLC2A10):c.1411+2T>A	SLC2A10	Likely pathogenic	20	45355627	45355627	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA322146