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.292_295del (p.Tyr98fs)	VHL	Pathogenic	3	10183821	10183824	CCCTA	C	criteria provided, single submitter	-
Duplication	NM_000551.4(VHL):c.258dup (p.Val87fs)	VHL	Pathogenic	3	10183786	10183787	G	GC	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.239G>T (p.Ser80Ile)	VHL	Pathogenic	3	10183770	10183770	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000551.4(VHL):c.239_261del (p.Ser80fs)	VHL	Pathogenic	3	10183769	10183791	CAGTCCGCGCGTCGTGCTGCCCGT	C	criteria provided, single submitter	-
Deletion	NM_000551.4(VHL):c.233del (p.Asn78fs)	VHL	Pathogenic	3	10183763	10183763	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.232A>G (p.Asn78Asp)	VHL	Pathogenic/Likely pathogenic	3	10183763	10183763	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.232A>C (p.Asn78His)	VHL	Pathogenic	3	10183763	10183763	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.492G>C (p.Gln164His)	VHL	Pathogenic/Likely pathogenic	3	10191499	10191499	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.481C>G (p.Arg161Gly)	VHL	Pathogenic	3	10191488	10191488	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.280G>T (p.Glu94Ter)	VHL	Pathogenic	3	10183811	10183811	G	T	criteria provided, multiple submitters, no conflicts	-