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.243C>G (p.Ser81Arg)	SLC2A10	Pathogenic/Likely pathogenic	20	45353918	45353918	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA340266,UniProtKB:O95528#VAR_029535,OMIM:606145.0004
single nucleotide variant	NM_030777.4(SLC2A10):c.395G>T (p.Arg132Leu)	SLC2A10	Likely pathogenic	20	45354070	45354070	G	T	criteria provided, single submitter	ClinGen:CA409266928
single nucleotide variant	NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter)	SLC2A10	Likely pathogenic	20	45354092	45354092	T	A	criteria provided, single submitter	ClinGen:CA347716
single nucleotide variant	NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter)	SLC2A10	Pathogenic/Likely pathogenic	20	45354323	45354323	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA315755913
single nucleotide variant	NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter)	SLC2A10	Pathogenic	20	45354360	45354360	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347762
single nucleotide variant	NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)	SLC2A10	Pathogenic/Likely pathogenic	20	45354366	45354366	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA319966
Deletion	NM_030777.4(SLC2A10):c.731_734del (p.Leu244fs)	SLC2A10	Pathogenic	20	45354403	45354406	CAACT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA347754
single nucleotide variant	NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp)	SLC2A10	Pathogenic/Likely pathogenic	20	45354951	45354951	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA324232,UniProtKB:O95528#VAR_042422,OMIM:606145.0005
Indel	NM_030777.4(SLC2A10):c.1278_1287delinsCC (p.Phe427fs)	SLC2A10	Pathogenic	20	45354953	45354962	GTTTGGGCCA	CC	criteria provided, single submitter	ClinGen:CA16620930
single nucleotide variant	NM_030777.4(SLC2A10):c.1288+2T>C	SLC2A10	Likely pathogenic	20	45354965	45354965	T	C	criteria provided, single submitter	-