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.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
single nucleotide variant	NM_000551.4(VHL):c.488T>C (p.Leu163Pro)	VHL	Likely pathogenic	3	10191495	10191495	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020423,UniProtKB:P40337#VAR_034998,OMIM:608537.0018
single nucleotide variant	NM_000551.4(VHL):c.376G>T (p.Asp126Tyr)	VHL	Likely pathogenic	3	10188233	10188233	G	T	criteria provided, single submitter	ClinGen:CA020319,UniProtKB:P40337#VAR_034994,OMIM:608537.0022