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>C (p.Asn78His)	VHL	Pathogenic	3	10183763	10183763	A	C	criteria provided, single submitter	-
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
Deletion	NM_000551.4(VHL):c.226_227del (p.Phe76fs)	VHL	Pathogenic	3	10183757	10183758	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611078
Deletion	NM_000551.4(VHL):c.219_220del (p.Gln73fs)	VHL	Pathogenic	3	10183750	10183751	AGG	A	criteria provided, single submitter	ClinGen:CA020116
single nucleotide variant	NM_000551.4(VHL):c.217C>T (p.Gln73Ter)	VHL	Pathogenic	3	10183748	10183748	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA357036
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.208G>T (p.Glu70Ter)	VHL	Pathogenic	3	10183739	10183739	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602179
single nucleotide variant	NM_000551.4(VHL):c.208G>A (p.Glu70Lys)	VHL	Pathogenic/Likely pathogenic	3	10183739	10183739	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020108,UniProtKB:P40337#VAR_005676
single nucleotide variant	NM_000551.4(VHL):c.203C>A (p.Ser68Ter)	VHL	Pathogenic	3	10183734	10183734	C	A	criteria provided, single submitter	ClinGen:CA357051
single nucleotide variant	NM_000551.4(VHL):c.194C>A (p.Ser65Ter)	VHL	Pathogenic	3	10183725	10183725	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357085