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.358A>G (p.Arg120Gly)	VHL	Likely pathogenic	3	10188215	10188215	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA357028
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.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.556G>T (p.Glu186Ter)	VHL	Likely pathogenic	3	10191563	10191563	G	T	criteria provided, single submitter	ClinGen:CA16604432
Duplication	NM_000551.4(VHL):c.263_265dup (p.Trp88_Leu89insArg)	VHL	Likely pathogenic	3	10183793	10183794	T	TGGC	criteria provided, single submitter	ClinGen:CA645369327
single nucleotide variant	NM_000551.4(VHL):c.397A>C (p.Thr133Pro)	VHL	Likely pathogenic	3	10188254	10188254	A	C	criteria provided, single submitter	ClinGen:CA351753973
single nucleotide variant	NM_000551.4(VHL):c.506T>C (p.Leu169Pro)	VHL	Likely pathogenic	3	10191513	10191513	T	C	criteria provided, single submitter	ClinGen:CA351756191
Insertion	NM_000551.4(VHL):c.356_357insGG (p.Phe119fs)	VHL	Likely pathogenic	3	10188213	10188214	T	TGG	criteria provided, single submitter	ClinGen:CA645369328
single nucleotide variant	NM_000551.4(VHL):c.302T>C (p.Leu101Pro)	VHL	Likely pathogenic	3	10183833	10183833	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351751000
single nucleotide variant	NM_000551.4(VHL):c.460C>G (p.Pro154Ala)	VHL	Likely pathogenic	3	10188317	10188317	C	G	criteria provided, single submitter	ClinGen:CA351754403