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.642A>T (p.Ter214Cys)	VHL	Likely pathogenic	3	10191649	10191649	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.642A>G (p.Ter214Trp)	VHL	Likely pathogenic	3	10191649	10191649	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.593T>C (p.Leu198Pro)	VHL	Likely pathogenic	3	10191600	10191600	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA357145
single nucleotide variant	NM_000551.4(VHL):c.586A>T (p.Lys196Ter)	VHL	Pathogenic	3	10191593	10191593	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020507
Deletion	NM_000551.4(VHL):c.585_586del (p.Lys196fs)	VHL	Pathogenic	3	10191591	10191592	CAG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.583C>T (p.Gln195Ter)	VHL	Pathogenic	3	10191590	10191590	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA70052558
single nucleotide variant	NM_000551.4(VHL):c.581T>G (p.Val194Gly)	VHL	Pathogenic/Likely pathogenic	3	10191588	10191588	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA351756475
single nucleotide variant	NM_000551.4(VHL):c.571C>G (p.His191Asp)	VHL	Likely pathogenic	3	10191578	10191578	C	G	criteria provided, single submitter	ClinGen:CA020495,UniProtKB:P40337#VAR_034999,OMIM:608537.0024
Deletion	NM_000551.4(VHL):c.565del (p.Glu189fs)	VHL	Likely pathogenic	3	10191571	10191571	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.563T>C (p.Leu188Pro)	VHL	Pathogenic/Likely pathogenic	3	10191570	10191570	T	C	criteria provided, multiple submitters, no conflicts	-