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_000551.3(VHL):c.464-?_*3705del	VHL	Pathogenic	3	10191471	10195354	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_10146504)_(10149975_?)del	VHL	Pathogenic	3	10188188	10191659	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_10141838)_(10149975_?)del	VHL	Pathogenic	3	10183522	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.(?_10052377)_(10149975_?)del	VHL	Pathogenic	3	10094061	10191659	na	na	criteria provided, single submitter	-
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.642A>G (p.Ter214Trp)	VHL	Likely pathogenic	3	10191649	10191649	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.593T>C (p.Leu198Pro)	VHL	Likely pathogenic	3	10191600	10191600	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA357145
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
Deletion	NM_000551.4(VHL):c.585_586del (p.Lys196fs)	VHL	Pathogenic	3	10191591	10191592	CAG	C	criteria provided, single submitter	-