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.593T>C (p.Leu198Pro)	VHL	Likely pathogenic	3	10191600	10191600	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA357145
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	-
single nucleotide variant	NM_000551.4(VHL):c.642A>T (p.Ter214Cys)	VHL	Likely pathogenic	3	10191649	10191649	A	T	criteria provided, single submitter	-