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.548C>A (p.Ser183Ter)	VHL	Pathogenic	3	10191555	10191555	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020473,OMIM:608537.0002
single nucleotide variant	NM_000551.4(VHL):c.481C>T (p.Arg161Ter)	VHL	Pathogenic	3	10191488	10191488	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020408,OMIM:608537.0006
single nucleotide variant	NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	VHL	Pathogenic	3	10191506	10191506	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020450,UniProtKB:P40337#VAR_005762,OMIM:608537.0003
single nucleotide variant	NM_000551.4(VHL):c.499C>G (p.Arg167Gly)	VHL	Pathogenic	3	10191506	10191506	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020446,UniProtKB:P40337#VAR_005760,OMIM:608537.0004
single nucleotide variant	NM_000551.4(VHL):c.334T>C (p.Tyr112His)	VHL	Pathogenic	3	10183865	10183865	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020277,UniProtKB:P40337#VAR_005717,OMIM:608537.0012
single nucleotide variant	NM_000551.4(VHL):c.292T>C (p.Tyr98His)	VHL	Pathogenic	3	10183823	10183823	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020246,UniProtKB:P40337#VAR_005707,OMIM:608537.0009
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.562C>G (p.Leu188Val)	VHL	Pathogenic/Likely pathogenic	3	10191569	10191569	C	G	criteria provided, multiple submitters, no conflicts	OMIM:608537.0014,ClinGen:CA020488,UniProtKB:P40337#VAR_005777
single nucleotide variant	NM_000551.4(VHL):c.191G>C (p.Arg64Pro)	VHL	Pathogenic/Likely pathogenic	3	10183722	10183722	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020089,UniProtKB:P40337#VAR_034988,OMIM:608537.0015
single nucleotide variant	NM_000551.4(VHL):c.334T>A (p.Tyr112Asn)	VHL	Pathogenic	3	10183865	10183865	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020273,UniProtKB:P40337#VAR_034992,OMIM:608537.0017