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.333C>G (p.Ser111Arg)	VHL	Pathogenic	3	10183864	10183864	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA040305,UniProtKB:P40337#VAR_005716
Deletion	NM_000551.4(VHL):c.335_340+5del	VHL	Likely pathogenic	3	10183866	10183876	TACCGAGGTACG	T	criteria provided, single submitter	ClinGen:CA357040
single nucleotide variant	NM_000551.4(VHL):c.340G>C (p.Gly114Arg)	VHL	Pathogenic	3	10183871	10183871	G	C	criteria provided, single submitter	ClinGen:CA357101
single nucleotide variant	NM_000551.4(VHL):c.340+1G>A	VHL	Pathogenic	3	10183872	10183872	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357042
single nucleotide variant	NM_000551.4(VHL):c.341-2A>G	VHL	Pathogenic	3	10188196	10188196	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA357004
Insertion	NM_000551.4(VHL):c.352_353insA (p.Leu118fs)	VHL	Pathogenic	3	10188209	10188210	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA357125
single nucleotide variant	NM_000551.4(VHL):c.358A>G (p.Arg120Gly)	VHL	Likely pathogenic	3	10188215	10188215	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA357028
single nucleotide variant	NM_000551.4(VHL):c.362A>G (p.Asp121Gly)	VHL	Pathogenic/Likely pathogenic	3	10188219	10188219	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA357083,UniProtKB:P40337#VAR_005730
Deletion	NM_000551.4(VHL):c.402del (p.Glu134fs)	VHL	Pathogenic	3	10188258	10188258	GA	G	criteria provided, single submitter	ClinGen:CA357054
single nucleotide variant	NM_000551.4(VHL):c.414A>G (p.Pro138=)	VHL	Pathogenic	3	10188271	10188271	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA357138,OMIM:608537.0033