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.208G>A (p.Glu70Lys)	VHL	Pathogenic/Likely pathogenic	3	10183739	10183739	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020108,UniProtKB:P40337#VAR_005676
single nucleotide variant	NM_000551.4(VHL):c.194C>G (p.Ser65Trp)	VHL	Pathogenic	3	10183725	10183725	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020099,UniProtKB:P40337#VAR_005673
single nucleotide variant	NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)	VHL	Pathogenic/Likely pathogenic	3	10191531	10191531	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020462
single nucleotide variant	NM_000551.4(VHL):c.371C>T (p.Thr124Ile)	VHL	Likely pathogenic	3	10188228	10188228	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020308
single nucleotide variant	NM_000551.4(VHL):c.320G>C (p.Arg107Pro)	VHL	Pathogenic/Likely pathogenic	3	10183851	10183851	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020262,UniProtKB:P40337#VAR_005713
single nucleotide variant	NM_000551.4(VHL):c.242C>T (p.Pro81Leu)	VHL	Pathogenic/Likely pathogenic	3	10183773	10183773	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020154
single nucleotide variant	NM_000551.4(VHL):c.491A>G (p.Gln164Arg)	VHL	Pathogenic	3	10191498	10191498	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020429,UniProtKB:P40337#VAR_005758,OMIM:608537.0027
single nucleotide variant	NM_000551.4(VHL):c.277G>A (p.Gly93Ser)	VHL	Pathogenic	3	10183808	10183808	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P40337#VAR_005705,OMIM:608537.0026,ClinGen:CA020230
single nucleotide variant	NM_000551.4(VHL):c.250G>T (p.Val84Leu)	VHL	Pathogenic	3	10183781	10183781	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020170,UniProtKB:P40337#VAR_005692,OMIM:608537.0025
single nucleotide variant	NM_000551.4(VHL):c.571C>G (p.His191Asp)	VHL	Likely pathogenic	3	10191578	10191578	C	G	criteria provided, single submitter	ClinGen:CA020495,UniProtKB:P40337#VAR_034999,OMIM:608537.0024