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.273del (p.Phe91fs)	VHL	Likely pathogenic	3	10183804	10183804	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.344A>C (p.His115Pro)	VHL	Likely pathogenic	3	10188201	10188201	A	C	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val)	VHL	Likely pathogenic	3	10183809	10183810	GC	TT	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000551.4(VHL):c.419_427delinsACAATTATTTGTGCCATCTCTCAA (p.Leu140_Asp143delinsHisAsnTyrLeuCysHisLeuSerAsn)	VHL	Likely pathogenic	3	10188276	10188284	TCAATGTTG	ACAATTATTTGTGCCATCTCTCAA	criteria provided, single submitter	-
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	-
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	-
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.548C>A (p.Ser183Ter)	VHL	Pathogenic	3	10191555	10191555	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020473,OMIM:608537.0002