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.256C>G (p.Pro86Ala)	VHL	Pathogenic/Likely pathogenic	3	10183787	10183787	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020174,UniProtKB:P40337#VAR_005693
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.445G>T (p.Ala149Ser)	VHL	Pathogenic	3	10188302	10188302	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020355
single nucleotide variant	NM_000551.4(VHL):c.256C>T (p.Pro86Ser)	VHL	Pathogenic/Likely pathogenic	3	10183787	10183787	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020180,UniProtKB:P40337#VAR_005696
Deletion	NM_000551.3(VHL):c.-75_-55del	VHL	Likely pathogenic	3	10183457	10183477	AGCGCGCACGCAGCTCCGCCCC	A	criteria provided, single submitter	ClinGen:CA020542
single nucleotide variant	NM_000551.4(VHL):c.351G>T (p.Trp117Cys)	VHL	Pathogenic	3	10188208	10188208	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020294,UniProtKB:P40337#VAR_005725
Deletion	NM_000551.4(VHL):c.180del (p.Val62fs)	VHL	Pathogenic	3	10183710	10183710	CG	C	criteria provided, single submitter	ClinGen:CA020069
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.194C>T (p.Ser65Leu)	VHL	Pathogenic	3	10183725	10183725	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020104,UniProtKB:P40337#VAR_005672
Deletion	NM_000551.4(VHL):c.219_220del (p.Gln73fs)	VHL	Pathogenic	3	10183750	10183751	AGG	A	criteria provided, single submitter	ClinGen:CA020116