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.232A>T (p.Asn78Tyr)	VHL	Likely pathogenic	3	10183763	10183763	A	T	criteria provided, single submitter	ClinGen:CA357056
single nucleotide variant	NM_000551.4(VHL):c.233A>C (p.Asn78Thr)	VHL	Pathogenic	3	10183764	10183764	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA357095,UniProtKB:P40337#VAR_005684
single nucleotide variant	NM_000551.4(VHL):c.233A>T (p.Asn78Ile)	VHL	Likely pathogenic	3	10183764	10183764	A	T	criteria provided, single submitter	ClinGen:CA357063
single nucleotide variant	NM_000551.4(VHL):c.257C>G (p.Pro86Arg)	VHL	Pathogenic	3	10183788	10183788	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA357142,UniProtKB:P40337#VAR_005695
single nucleotide variant	NM_000551.4(VHL):c.264G>T (p.Trp88Cys)	VHL	Pathogenic/Likely pathogenic	3	10183795	10183795	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA357078
single nucleotide variant	NM_000551.4(VHL):c.269A>T (p.Asn90Ile)	VHL	Likely pathogenic	3	10183800	10183800	A	T	criteria provided, single submitter	ClinGen:CA357043
single nucleotide variant	NM_000551.4(VHL):c.277G>C (p.Gly93Arg)	VHL	Likely pathogenic	3	10183808	10183808	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA357130
single nucleotide variant	NM_000551.4(VHL):c.293A>G (p.Tyr98Cys)	VHL	Pathogenic	3	10183824	10183824	A	G	criteria provided, single submitter	ClinGen:CA357072
single nucleotide variant	NM_000551.4(VHL):c.320G>A (p.Arg107His)	VHL	Pathogenic	3	10183851	10183851	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357135
single nucleotide variant	NM_000551.4(VHL):c.332G>A (p.Ser111Asn)	VHL	Pathogenic	3	10183863	10183863	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357091,UniProtKB:P40337#VAR_005715