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.179_192del (p.Arg60fs)	VHL	Pathogenic/Likely pathogenic	3	10183707	10183720	CCGCGGCCCGTGCTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617784
single nucleotide variant	NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)	VHL	Pathogenic/Likely pathogenic	3	10191562	10191562	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA357075
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
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.214T>C (p.Ser72Pro)	VHL	Pathogenic/Likely pathogenic	3	10183745	10183745	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA357006
single nucleotide variant	NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)	VHL	Pathogenic/Likely pathogenic	3	10183824	10183824	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279916
Deletion	NM_000551.4(VHL):c.449del (p.Asn150fs)	VHL	Pathogenic/Likely pathogenic	3	10188305	10188305	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020360
single nucleotide variant	NM_000551.4(VHL):c.238A>G (p.Ser80Gly)	VHL	Pathogenic/Likely pathogenic	3	10183769	10183769	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020142
single nucleotide variant	NM_000551.4(VHL):c.340+1G>C	VHL	Pathogenic/Likely pathogenic	3	10183872	10183872	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020282
single nucleotide variant	NM_000551.4(VHL):c.266T>C (p.Leu89Pro)	VHL	Pathogenic/Likely pathogenic	3	10183797	10183797	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020207,UniProtKB:P40337#VAR_005700