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.463+1G>A	VHL	Pathogenic	3	10188321	10188321	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621909
Indel	NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs)	VHL	Pathogenic/Likely pathogenic	3	10191538	10191549	ACTGGACATCGT	TC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.193T>C (p.Ser65Pro)	VHL	Pathogenic	3	10183724	10183724	T	C	criteria provided, single submitter	-
Deletion	NM_000551.4(VHL):c.585_586del (p.Lys196fs)	VHL	Pathogenic	3	10191591	10191592	CAG	C	criteria provided, single submitter	-
Deletion	NM_000551.4(VHL):c.273del (p.Phe91fs)	VHL	Likely pathogenic	3	10183804	10183804	TC	T	criteria provided, single submitter	-
Deletion	NM_000551.4(VHL):c.329del (p.His110fs)	VHL	Pathogenic	3	10183860	10183860	CA	C	criteria provided, multiple submitters, no conflicts	-
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	-
single nucleotide variant	NM_000551.4(VHL):c.264G>C (p.Trp88Cys)	VHL	Pathogenic	3	10183795	10183795	G	C	criteria provided, single submitter	-
Indel	NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val)	VHL	Likely pathogenic	3	10183809	10183810	GC	TT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.340G>A (p.Gly114Ser)	VHL	Pathogenic	3	10183871	10183871	G	A	criteria provided, multiple submitters, no conflicts	-