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.485G>A (p.Cys162Tyr)	VHL	Likely pathogenic	3	10191492	10191492	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357010,UniProtKB:P40337#VAR_005757
single nucleotide variant	NM_000551.4(VHL):c.486C>A (p.Cys162Ter)	VHL	Pathogenic	3	10191493	10191493	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357112
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
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
Deletion	NM_000551.4(VHL):c.540_543del (p.Val181fs)	VHL	Pathogenic	3	10191547	10191550	TCGTC	T	criteria provided, single submitter	ClinGen:CA357022
single nucleotide variant	NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)	VHL	Pathogenic/Likely pathogenic	3	10191562	10191562	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA357075
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.250G>C (p.Val84Leu)	VHL	Pathogenic	3	10183781	10183781	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578180,UniProtKB:P40337#VAR_005692
Deletion	NM_000551.3(VHL):c.464-?_*3705del	VHL	Pathogenic	3	10191471	10195354	na	na	criteria provided, single submitter	-
Duplication	NM_000551.4(VHL):c.164_171dup (p.Arg60fs)	VHL	Pathogenic	3	10183692	10183693	T	TGGAGGCCG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602889