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.336C>G (p.Tyr112Ter)	VHL	Pathogenic/Likely pathogenic	3	10183867	10183867	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.331A>G (p.Ser111Gly)	VHL	Pathogenic	3	10183862	10183862	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.642A>T (p.Ter214Cys)	VHL	Likely pathogenic	3	10191649	10191649	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.642A>G (p.Ter214Trp)	VHL	Likely pathogenic	3	10191649	10191649	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000551.4(VHL):c.565del (p.Glu189fs)	VHL	Likely pathogenic	3	10191571	10191571	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.563T>C (p.Leu188Pro)	VHL	Pathogenic/Likely pathogenic	3	10191570	10191570	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.563T>A (p.Leu188Gln)	VHL	Likely pathogenic	3	10191570	10191570	T	A	criteria provided, single submitter	-
Deletion	NM_000551.4(VHL):c.547del (p.Ser183fs)	VHL	Likely pathogenic	3	10191554	10191554	GT	G	criteria provided, single submitter	-
Deletion	NM_000551.4(VHL):c.533_534del (p.Leu178fs)	VHL	Pathogenic	3	10191540	10191541	CTG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.533T>G (p.Leu178Arg)	VHL	Pathogenic	3	10191540	10191540	T	G	criteria provided, multiple submitters, no conflicts	-