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.563T>A (p.Leu188Gln)	VHL	Likely pathogenic	3	10191570	10191570	T	A	criteria provided, single submitter	-
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.556G>T (p.Glu186Ter)	VHL	Likely pathogenic	3	10191563	10191563	G	T	criteria provided, single submitter	ClinGen:CA16604432
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.551T>C (p.Leu184Pro)	VHL	Pathogenic/Likely pathogenic	3	10191558	10191558	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617792
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
Deletion	NM_000551.4(VHL):c.547del (p.Ser183fs)	VHL	Likely pathogenic	3	10191554	10191554	GT	G	criteria provided, single submitter	-
Duplication	NM_000551.4(VHL):c.543dup (p.Arg182fs)	VHL	Pathogenic	3	10191549	10191550	T	TC	criteria provided, single submitter	ClinGen:CA645369326
Deletion	NM_000551.4(VHL):c.540_543del (p.Val181fs)	VHL	Pathogenic	3	10191547	10191550	TCGTC	T	criteria provided, single submitter	ClinGen:CA357022
Deletion	NM_000551.4(VHL):c.533_534del (p.Leu178fs)	VHL	Pathogenic	3	10191540	10191541	CTG	C	criteria provided, multiple submitters, no conflicts	-