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.497T>A (p.Val166Asp)	VHL	Pathogenic	3	10191504	10191504	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.497T>C (p.Val166Ala)	VHL	Pathogenic/Likely pathogenic	3	10191504	10191504	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020442
single nucleotide variant	NM_000551.4(VHL):c.496G>T (p.Val166Phe)	VHL	Pathogenic	3	10191503	10191503	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020436,UniProtKB:P40337#VAR_005759,OMIM:608537.0013
single nucleotide variant	NM_000551.4(VHL):c.492G>C (p.Gln164His)	VHL	Pathogenic/Likely pathogenic	3	10191499	10191499	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.492G>T (p.Gln164His)	VHL	Pathogenic/Likely pathogenic	3	10191499	10191499	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351756157
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.490C>T (p.Gln164Ter)	VHL	Pathogenic	3	10191497	10191497	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA357060
single nucleotide variant	NM_000551.4(VHL):c.488T>G (p.Leu163Arg)	VHL	Pathogenic	3	10191495	10191495	T	G	criteria provided, single submitter	ClinGen:CA16611277
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.486C>G (p.Cys162Trp)	VHL	Pathogenic	3	10191493	10191493	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA357016,UniProtKB:P40337#VAR_005756