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.449del (p.Asn150fs)	VHL	Pathogenic/Likely pathogenic	3	10188305	10188305	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020360
single nucleotide variant	NM_000551.4(VHL):c.586A>T (p.Lys196Ter)	VHL	Pathogenic	3	10191593	10191593	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020507
single nucleotide variant	NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)	VHL	Pathogenic/Likely pathogenic	3	10183824	10183824	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279916
Deletion	NM_000551.4(VHL):c.258del (p.Val87fs)	VHL	Pathogenic	3	10183787	10183787	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA348305
single nucleotide variant	NM_000551.4(VHL):c.337C>T (p.Arg113Ter)	VHL	Pathogenic	3	10183868	10183868	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA348491
Duplication	NM_000551.4(VHL):c.163dup (p.Glu55fs)	VHL	Pathogenic	3	10183692	10183693	T	TG	criteria provided, single submitter	ClinGen:CA357082
single nucleotide variant	NM_000551.4(VHL):c.194C>A (p.Ser65Ter)	VHL	Pathogenic	3	10183725	10183725	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357085
single nucleotide variant	NM_000551.4(VHL):c.203C>A (p.Ser68Ter)	VHL	Pathogenic	3	10183734	10183734	C	A	criteria provided, single submitter	ClinGen:CA357051
single nucleotide variant	NM_000551.4(VHL):c.214T>C (p.Ser72Pro)	VHL	Pathogenic/Likely pathogenic	3	10183745	10183745	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA357006
single nucleotide variant	NM_000551.4(VHL):c.217C>T (p.Gln73Ter)	VHL	Pathogenic	3	10183748	10183748	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA357036