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.180del (p.Val62fs)	VHL	Pathogenic	3	10183710	10183710	CG	C	criteria provided, single submitter	ClinGen:CA020069
Duplication	NM_000551.4(VHL):c.189dup (p.Arg64fs)	VHL	Pathogenic/Likely pathogenic	3	10183719	10183720	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683297
single nucleotide variant	NM_000551.4(VHL):c.191G>C (p.Arg64Pro)	VHL	Pathogenic/Likely pathogenic	3	10183722	10183722	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020089,UniProtKB:P40337#VAR_034988,OMIM:608537.0015
Deletion	NM_000551.4(VHL):c.192del (p.Ser65fs)	VHL	Pathogenic/Likely pathogenic	3	10183723	10183723	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020094
single nucleotide variant	NM_000551.4(VHL):c.193T>C (p.Ser65Pro)	VHL	Pathogenic	3	10183724	10183724	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.194C>G (p.Ser65Trp)	VHL	Pathogenic	3	10183725	10183725	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020099,UniProtKB:P40337#VAR_005673
single nucleotide variant	NM_000551.4(VHL):c.194C>T (p.Ser65Leu)	VHL	Pathogenic	3	10183725	10183725	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020104,UniProtKB:P40337#VAR_005672
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
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.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