フォン・ヒッペル・リンドウ病

腫瘍性疾患

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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.239G>T (p.Ser80Ile)	VHL	Pathogenic	3	10183770	10183770	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000551.4(VHL):c.258dup (p.Val87fs)	VHL	Pathogenic	3	10183786	10183787	G	GC	criteria provided, single submitter	-
Deletion	NM_000551.4(VHL):c.292_295del (p.Tyr98fs)	VHL	Pathogenic	3	10183821	10183824	CCCTA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.294C>G (p.Tyr98Ter)	VHL	Pathogenic	3	10183825	10183825	C	G	criteria provided, single submitter	-
Duplication	NM_000551.4(VHL):c.304_305dup (p.Pro103fs)	VHL	Pathogenic	3	10183834	10183835	G	GCC	criteria provided, single submitter	-
Duplication	NM_000551.4(VHL):c.346dup (p.Leu116fs)	VHL	Pathogenic	3	10188201	10188202	A	AC	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.350G>A (p.Trp117Ter)	VHL	Pathogenic	3	10188207	10188207	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.357C>G (p.Phe119Leu)	VHL	Pathogenic	3	10188214	10188214	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000551.4(VHL):c.381del (p.Leu128fs)	VHL	Pathogenic	3	10188236	10188236	TG	T	criteria provided, single submitter	-
Duplication	NM_000551.4(VHL):c.393_394dup (p.Gln132fs)	VHL	Pathogenic	3	10188249	10188250	A	ACC	criteria provided, single submitter	-