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
Insertion	NM_000551.4(VHL):c.418_419insA (p.Leu140fs)	VHL	Pathogenic	3	10188275	10188276	C	CA	criteria provided, single submitter	ClinGen:CA645369330
single nucleotide variant	NM_000551.4(VHL):c.452T>C (p.Ile151Thr)	VHL	Pathogenic	3	10188309	10188309	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351754359
single nucleotide variant	NM_000551.4(VHL):c.500G>C (p.Arg167Pro)	VHL	Pathogenic/Likely pathogenic	3	10191507	10191507	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351756177
single nucleotide variant	NM_000551.4(VHL):c.506T>C (p.Leu169Pro)	VHL	Likely pathogenic	3	10191513	10191513	T	C	criteria provided, single submitter	ClinGen:CA351756191
single nucleotide variant	NM_000551.4(VHL):c.533T>C (p.Leu178Pro)	VHL	Pathogenic	3	10191540	10191540	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351756245
Duplication	NM_000551.4(VHL):c.543dup (p.Arg182fs)	VHL	Pathogenic	3	10191549	10191550	T	TC	criteria provided, single submitter	ClinGen:CA645369326
single nucleotide variant	NM_000551.4(VHL):c.581T>G (p.Val194Gly)	VHL	Pathogenic/Likely pathogenic	3	10191588	10191588	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA351756475
single nucleotide variant	NM_000551.4(VHL):c.583C>T (p.Gln195Ter)	VHL	Pathogenic	3	10191590	10191590	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA70052558
Insertion	NM_000551.4(VHL):c.356_357insGG (p.Phe119fs)	VHL	Likely pathogenic	3	10188213	10188214	T	TGG	criteria provided, single submitter	ClinGen:CA645369328
single nucleotide variant	NM_000551.4(VHL):c.262T>A (p.Trp88Arg)	VHL	Pathogenic	3	10183793	10183793	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351750671