フォン・ヒッペル・リンドウ病

腫瘍性疾患

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_000551.4(VHL):c.355T>C (p.Phe119Leu)	VHL	Pathogenic	3	10188212	10188212	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351753707
single nucleotide variant	NM_000551.4(VHL):c.238A>C (p.Ser80Arg)	VHL	Pathogenic	3	10183769	10183769	A	C	criteria provided, single submitter	ClinGen:CA16621913
single nucleotide variant	NM_000551.4(VHL):c.262T>C (p.Trp88Arg)	VHL	Pathogenic	3	10183793	10183793	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351750667
single nucleotide variant	NM_000551.4(VHL):c.392A>G (p.Asn131Ser)	VHL	Pathogenic/Likely pathogenic	3	10188249	10188249	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA351753941
single nucleotide variant	NM_000551.4(VHL):c.484T>C (p.Cys162Arg)	VHL	Pathogenic	3	10191491	10191491	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351756117
single nucleotide variant	NM_000551.4(VHL):c.345C>A (p.His115Gln)	VHL	Pathogenic/Likely pathogenic	3	10188202	10188202	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351753631
single nucleotide variant	NM_000551.4(VHL):c.407T>C (p.Phe136Ser)	VHL	Pathogenic/Likely pathogenic	3	10188264	10188264	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA040847
single nucleotide variant	NM_000551.4(VHL):c.500G>T (p.Arg167Leu)	VHL	Pathogenic	3	10191507	10191507	G	T	criteria provided, single submitter	ClinGen:CA351756178
single nucleotide variant	NM_000551.4(VHL):c.245G>T (p.Arg82Leu)	VHL	Pathogenic/Likely pathogenic	3	10183776	10183776	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351750555
single nucleotide variant	NM_000551.4(VHL):c.460C>G (p.Pro154Ala)	VHL	Likely pathogenic	3	10188317	10188317	C	G	criteria provided, single submitter	ClinGen:CA351754403