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.526del (p.Arg176fs)	VHL	Pathogenic	3	10191533	10191533	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.525C>G (p.Tyr175Ter)	VHL	Pathogenic	3	10191532	10191532	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020466
single nucleotide variant	NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)	VHL	Pathogenic/Likely pathogenic	3	10191531	10191531	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020462
single nucleotide variant	NM_000551.4(VHL):c.509T>A (p.Val170Asp)	VHL	Pathogenic/Likely pathogenic	3	10191516	10191516	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.506T>C (p.Leu169Pro)	VHL	Likely pathogenic	3	10191513	10191513	T	C	criteria provided, single submitter	ClinGen:CA351756191
Insertion	NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)	VHL	Pathogenic/Likely pathogenic	3	10191508	10191509	G	GTTGTCCGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA020458
single nucleotide variant	NM_000551.4(VHL):c.500G>T (p.Arg167Leu)	VHL	Pathogenic	3	10191507	10191507	G	T	criteria provided, single submitter	ClinGen:CA351756178
single nucleotide variant	NM_000551.4(VHL):c.500G>C (p.Arg167Pro)	VHL	Pathogenic/Likely pathogenic	3	10191507	10191507	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351756177
single nucleotide variant	NM_000551.4(VHL):c.499C>G (p.Arg167Gly)	VHL	Pathogenic	3	10191506	10191506	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020446,UniProtKB:P40337#VAR_005760,OMIM:608537.0004
single nucleotide variant	NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	VHL	Pathogenic	3	10191506	10191506	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020450,UniProtKB:P40337#VAR_005762,OMIM:608537.0003