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.642A>T (p.Ter214Cys)	VHL	Likely pathogenic	3	10191649	10191649	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.331A>G (p.Ser111Gly)	VHL	Pathogenic	3	10183862	10183862	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.336C>G (p.Tyr112Ter)	VHL	Pathogenic/Likely pathogenic	3	10183867	10183867	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000551.4(VHL):c.291_302del (p.Tyr98_Leu101del)	VHL	Pathogenic	3	10183822	10183833	CCTACCCAACGCT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.344A>G (p.His115Arg)	VHL	Pathogenic/Likely pathogenic	3	10188201	10188201	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.461C>T (p.Pro154Leu)	VHL	Pathogenic	3	10188318	10188318	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000003.12:g.(?_10052377)_(10149975_?)del	VHL	Pathogenic	3	10094061	10191659	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_10149777)_(10149975_?)del	VHL	Pathogenic	3	10191461	10191659	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_10141838)_(10142197_?)del	VHL	Pathogenic	3	10183522	10183881	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_10146504)_(10146646_?)del	VHL	Pathogenic	3	10188188	10188330	na	na	criteria provided, single submitter	-