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
Deletion	NM_000551.4(VHL):c.377del (p.Asp126fs)	VHL	Pathogenic	3	10188234	10188234	GA	G	criteria provided, single submitter	ClinGen:CA658655750
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.302T>C (p.Leu101Pro)	VHL	Likely pathogenic	3	10183833	10183833	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351751000
Deletion	NM_000551.4(VHL):c.388del (p.Val130fs)	VHL	Pathogenic	3	10188244	10188244	TG	T	criteria provided, single submitter	ClinGen:CA658655751
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.278G>A (p.Gly93Asp)	VHL	Pathogenic	3	10183809	10183809	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351750781
single nucleotide variant	NM_000551.4(VHL):c.313A>C (p.Thr105Pro)	VHL	Pathogenic	3	10183844	10183844	A	C	criteria provided, single submitter	ClinGen:CA351751116
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
Indel	NM_000551.4(VHL):c.474_476delinsC (p.Lys159fs)	VHL	Pathogenic	3	10191481	10191483	GAA	C	criteria provided, single submitter	ClinGen:CA658683298
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