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.526del (p.Arg176fs)	VHL	Pathogenic	3	10191533	10191533	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.529A>T (p.Arg177Ter)	VHL	Pathogenic	3	10191536	10191536	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.533T>A (p.Leu178Gln)	VHL	Pathogenic	3	10191540	10191540	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.533T>G (p.Leu178Arg)	VHL	Pathogenic	3	10191540	10191540	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000551.4(VHL):c.533_534del (p.Leu178fs)	VHL	Pathogenic	3	10191540	10191541	CTG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000551.4(VHL):c.547del (p.Ser183fs)	VHL	Likely pathogenic	3	10191554	10191554	GT	G	criteria provided, single submitter	-
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.563T>C (p.Leu188Pro)	VHL	Pathogenic/Likely pathogenic	3	10191570	10191570	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000551.4(VHL):c.565del (p.Glu189fs)	VHL	Likely pathogenic	3	10191571	10191571	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.642A>G (p.Ter214Trp)	VHL	Likely pathogenic	3	10191649	10191649	A	G	criteria provided, multiple submitters, no conflicts	-