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.407T>C (p.Phe136Ser)	VHL	Pathogenic/Likely pathogenic	3	10188264	10188264	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA040847
single nucleotide variant	NM_000551.4(VHL):c.345C>A (p.His115Gln)	VHL	Pathogenic/Likely pathogenic	3	10188202	10188202	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351753631
single nucleotide variant	NM_000551.4(VHL):c.392A>G (p.Asn131Ser)	VHL	Pathogenic/Likely pathogenic	3	10188249	10188249	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA351753941
Duplication	NM_000551.4(VHL):c.189dup (p.Arg64fs)	VHL	Pathogenic/Likely pathogenic	3	10183719	10183720	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683297
single nucleotide variant	NM_000551.4(VHL):c.395A>C (p.Gln132Pro)	VHL	Pathogenic/Likely pathogenic	3	10188252	10188252	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351753958
single nucleotide variant	NM_000551.4(VHL):c.460C>T (p.Pro154Ser)	VHL	Pathogenic/Likely pathogenic	3	10188317	10188317	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351754405
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.581T>G (p.Val194Gly)	VHL	Pathogenic/Likely pathogenic	3	10191588	10191588	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA351756475
single nucleotide variant	NM_000551.4(VHL):c.500G>C (p.Arg167Pro)	VHL	Pathogenic/Likely pathogenic	3	10191507	10191507	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351756177
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