VHL[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[p - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 997768	NC_000003.12:g.10140148_10140759del	VHL	Deletion	Von Hippel-Lindau syndrome	GPathogenic
Select item 417616	NC_000003.12:g.(?_10141635)_(10142187_?)del	VHL	Deletion	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 2679582	NM_000551.4(VHL):c.-89_-51del	VHL	Deletion	Chuvash polycythemia	GLikely pathogenic
Select item 166561	NM_000551.3(VHL):c.-75_-55del	VHL	Deletion	Von Hippel-Lindau syndrome	GLikely pathogenic
Select item 656836	NC_000003.12:g.(?_10141838)_(10142197_?)del	VHL	Deletion	Chuvash polycythemia +1 more	GPathogenic
Select item 1692515	NM_000551.4(VHL):c.123_126del (p.Glu41fs)	VHL (E41fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1692517	NM_000551.4(VHL):c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC (p.Glu46fs)	VHL (E46fs)	Insertion (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 2043162	NM_000551.4(VHL):c.161T>G (p.Met54Arg)	VHL (M54R)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +1 more	GLikely pathogenic
Select item 280053	NM_000551.4(VHL):c.164_171dup (p.Arg60fs)	VHL (R60fs)	Duplication (frameshift variant)	Chuvash polycythemia +2 more	GPathogenic
Select item 223159	NM_000551.4(VHL):c.163dup (p.Glu55fs)	VHL (E55fs)	Duplication (frameshift variant)	Chuvash polycythemia +1 more	GPathogenic
Select item 2949244	NM_000551.4(VHL):c.162G>A (p.Met54Ile)	VHL (M54I)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GLikely pathogenic
Select item 428800	NM_000551.4(VHL):c.163del (p.Glu55fs)	VHL (E55fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 2674430	NM_000551.4(VHL):c.170_177del (p.Gly57fs)	VHL (G57fs)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 423409	NM_000551.4(VHL):c.179_192del (p.Arg60fs)	VHL (R60fs)	Deletion (frameshift variant)	Chuvash polycythemia +2 more	GPathogenic/Likely pathogenic
Select item 3148656	NM_000551.4(VHL):c.179_182del (p.Arg60fs)	VHL (R60fs)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 182986	NM_000551.4(VHL):c.180del (p.Val62fs)	VHL (V62fs)	Deletion (frameshift variant)	Von Hippel-Lindau syndrome +2 more	GPathogenic
Select item 1780385	NM_000551.4(VHL):c.180_193del (p.Pro61fs)	VHL (P61fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 2922021	NM_000551.4(VHL):c.182_183del (p.Pro61fs)	VHL (P61fs)	Deletion (frameshift variant +1 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 2085211	NM_000551.4(VHL):c.184del (p.Val62fs)	VHL (V62fs)	Deletion (frameshift variant)	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 2128789	NM_000551.4(VHL):c.189_193dup (p.Ser65fs)	VHL (S65fs)	Duplication (frameshift variant)	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 2561023	NM_000551.4(VHL):c.188T>G (p.Leu63Arg)	VHL (L63R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 496050	NM_000551.4(VHL):c.189dup (p.Arg64fs)	VHL (R64fs)	Duplication (frameshift variant)	Von Hippel-Lindau syndrome	GPathogenic/Likely pathogenic
Select item 223205	NM_000551.4(VHL):c.189_192del (p.Arg64_Ser65insTer)	VHL	Deletion (frameshift variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 1782641	NM_000551.4(VHL):c.191dup (p.Ser65fs)	VHL (S65fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1023005	NM_000551.4(VHL):c.190C>A (p.Arg64Ser)	VHL (R64S)	Single nucleotide variant (missense variant)	Chuvash polycythemia +1 more	GLikely pathogenic
Select item 2226	NM_000551.4(VHL):c.191G>C (p.Arg64Pro)	VHL (R64P)	Single nucleotide variant (missense variant)	Chuvash polycythemia +3 more	GPathogenic/Likely pathogenic
Select item 182972	NM_000551.4(VHL):c.192del (p.Ser65fs)	VHL (S65fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1426858	NM_000551.4(VHL):c.193T>A (p.Ser65Thr)	VHL (S65T)	Single nucleotide variant (missense variant)	Chuvash polycythemia +1 more	GPathogenic
Select item 547829	NM_000551.4(VHL):c.193T>C (p.Ser65Pro)	VHL (S65P)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 223160	NM_000551.4(VHL):c.193T>G (p.Ser65Ala)	VHL (S65A)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GLikely pathogenic
Select item 223161	NM_000551.4(VHL):c.194C>A (p.Ser65Ter)	VHL (S65*)	Single nucleotide variant (nonsense)	Von Hippel-Lindau syndrome +2 more	GPathogenic
Select item 182975	NM_000551.4(VHL):c.194C>T (p.Ser65Leu)	VHL (S65L)	Single nucleotide variant (missense variant)	Cerebellar hemangioblastoma +5 more	GPathogenic
Select item 43597	NM_000551.4(VHL):c.194C>G (p.Ser65Trp)	VHL (S65W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 2925342	NM_000551.4(VHL):c.202T>C (p.Ser68Pro)	VHL (S68P)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 1785370	NM_000551.4(VHL):c.207_208dup (p.Glu70fs)	VHL (E70fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1785035	NM_000551.4(VHL):c.204dup (p.Arg69fs)	VHL (R69fs)	Duplication (frameshift variant)	Von Hippel-Lindau syndrome +2 more	GPathogenic
Select item 223162	NM_000551.4(VHL):c.203C>A (p.Ser68Ter)	VHL (S68*)	Single nucleotide variant (nonsense)	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 478820	NM_000551.4(VHL):c.206dup (p.Glu70fs)	VHL (E70fs)	Duplication (frameshift variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 847948	NM_000551.4(VHL):c.208G>C (p.Glu70Gln)	VHL (E70Q)	Single nucleotide variant (missense variant)	Chuvash polycythemia +1 more	GLikely pathogenic
Select item 428806	NM_000551.4(VHL):c.208G>T (p.Glu70Ter)	VHL (E70*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 43598	NM_000551.4(VHL):c.208G>A (p.Glu70Lys)	VHL (E70K)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1786236	NM_000551.4(VHL):c.212_213dup (p.Ser72fs)	VHL (S72fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 2573291	NM_000551.4(VHL):c.213del (p.Ser72fs)	VHL (S72fs)	Deletion (non-coding transcript variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 223163	NM_000551.4(VHL):c.214T>C (p.Ser72Pro)	VHL (S72P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 223164	NM_000551.4(VHL):c.217C>T (p.Gln73Ter)	VHL (Q73*)	Single nucleotide variant (nonsense)	Chuvash polycythemia +2 more	GPathogenic
Select item 182988	NM_000551.4(VHL):c.219_220del (p.Gln73fs)	VHL (Q73fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 2954486	NM_000551.4(VHL):c.220G>T (p.Val74Phe)	VHL (V74F)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GLikely pathogenic
Select item 1723891	NM_000551.4(VHL):c.222_225dup (p.Phe76fs)	VHL (F76fs)	Duplication (frameshift variant)	Von Hippel-Lindau syndrome	GLikely pathogenic
Select item 223165	NM_000551.4(VHL):c.221del (p.Val74fs)	VHL (V74fs)	Deletion (frameshift variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 2214	NM_000551.4(VHL):c.223_225del (p.Ile75del)	VHL (I75del)	Deletion (inframe_deletion)	Von Hippel-Lindau syndrome	GPathogenic
Select item 635350	NM_000551.4(VHL):c.222C>A (p.Val74=)	VHL	Single nucleotide variant (synonymous variant)	Chuvash polycythemia	GPathogenic
Select item 223166	NM_000551.4(VHL):c.224TCT[1] (p.Phe76del)	VHL (F76del)	Microsatellite (inframe_deletion)	Von Hippel-Lindau syndrome +4 more	GPathogenic/Likely pathogenic
Select item 2566469	NM_000551.4(VHL):c.226T>C (p.Phe76Leu)	VHL (F76L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 820994	NM_000551.4(VHL):c.226T>A (p.Phe76Ile)	VHL (F76I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 411961	NM_000551.4(VHL):c.226_227del (p.Phe76fs)	VHL (F76fs)	Deletion (frameshift variant)	Chuvash polycythemia +2 more	GPathogenic
Select item 2028206	NM_000551.4(VHL):c.231C>A (p.Cys77Ter)	VHL (C77*)	Single nucleotide variant (nonsense)	Chuvash polycythemia +1 more	GPathogenic
Select item 625227	NM_000551.4(VHL):c.233del (p.Asn78fs)	VHL (N78fs)	Deletion (frameshift variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 625226	NM_000551.4(VHL):c.232A>G (p.Asn78Asp)	VHL (N78D)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +2 more	GPathogenic/Likely pathogenic
Select item 625225	NM_000551.4(VHL):c.232A>C (p.Asn78His)	VHL (N78H)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 223167	NM_000551.4(VHL):c.232A>T (p.Asn78Tyr)	VHL (N78Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 223169	NM_000551.4(VHL):c.233A>T (p.Asn78Ile)	VHL (N78I)	Single nucleotide variant (missense variant)	Chuvash polycythemia +1 more	GLikely pathogenic
Select item 223168	NM_000551.4(VHL):c.233A>C (p.Asn78Thr)	VHL (N78T)	Single nucleotide variant (missense variant)	Chuvash polycythemia +2 more	GPathogenic
Select item 93326	NM_000551.4(VHL):c.233A>G (p.Asn78Ser)	VHL (N78S)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +3 more	GPathogenic
Select item 2566466	NM_000551.4(VHL):c.236G>C (p.Arg79Pro)	VHL (R79P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 625228	NM_000551.4(VHL):c.239_261del (p.Ser80fs)	VHL (S80fs)	Deletion (frameshift variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 496052	NM_000551.4(VHL):c.238A>C (p.Ser80Arg)	VHL (S80R)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 186220	NM_000551.4(VHL):c.238A>G (p.Ser80Gly)	VHL (S80G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1070179	NM_000551.4(VHL):c.239G>A (p.Ser80Asn)	VHL (S80N)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 625229	NM_000551.4(VHL):c.239G>T (p.Ser80Ile)	VHL (S80I)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 3148494	NM_000551.4(VHL):c.240T>A (p.Ser80Arg)	VHL (S80R)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 more	GLikely pathogenic
Select item 1072069	NM_000551.4(VHL):c.241_244dup (p.Arg82fs)	VHL (R82fs)	Duplication (frameshift variant)	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 1071196	NM_000551.4(VHL):c.244_259dup (p.Val87fs)	VHL (V87fs)	Duplication (frameshift variant)	Chuvash polycythemia +1 more	GPathogenic
Select item 36899	NM_000551.4(VHL):c.242C>T (p.Pro81Leu)	VHL (P81L)	Single nucleotide variant (missense variant)	Chuvash polycythemia +3 more	GPathogenic/Likely pathogenic
Select item 1297059	NM_000551.4(VHL):c.244C>G (p.Arg82Gly)	VHL (R82G)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 3232217	NM_000551.4(VHL):c.246dup (p.Val83fs)	VHL (V83fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 526675	NM_000551.4(VHL):c.245G>T (p.Arg82Leu)	VHL (R82L)	Single nucleotide variant (missense variant)	Chuvash polycythemia +2 more	GPathogenic/Likely pathogenic
Select item 193118	NM_000551.4(VHL):c.245G>C (p.Arg82Pro)	VHL (R82P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1792371	NM_000551.4(VHL):c.250del (p.Val84fs)	VHL (V84fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 229860	NM_000551.4(VHL):c.250G>C (p.Val84Leu)	VHL (V84L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2236	NM_000551.4(VHL):c.250G>T (p.Val84Leu)	VHL (V84L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 1792522	NM_000551.4(VHL):c.251T>A (p.Val84Glu)	VHL (V84E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 625230	NM_000551.4(VHL):c.258dup (p.Val87fs)	VHL (V87fs)	Duplication (frameshift variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 220487	NM_000551.4(VHL):c.258del (p.Val87fs)	VHL (V87fs)	Deletion (frameshift variant)	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 178692	NM_000551.4(VHL):c.256C>T (p.Pro86Ser)	VHL (P86S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 93327	NM_000551.4(VHL):c.256C>G (p.Pro86Ala)	VHL (P86A)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 223170	NM_000551.4(VHL):c.257C>G (p.Pro86Arg)	VHL (P86R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 182977	NM_000551.4(VHL):c.257C>T (p.Pro86Leu)	VHL (P86L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2674005	NM_000551.4(VHL):c.259_260del (p.Val87fs)	VHL (V87fs)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 1793789	NM_000551.4(VHL):c.261_262dup (p.Trp88fs)	VHL (W88fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 496053	NM_000551.4(VHL):c.262T>C (p.Trp88Arg)	VHL (W88R)	Single nucleotide variant (missense variant)	Chuvash polycythemia +1 more	GPathogenic
Select item 456577	NM_000551.4(VHL):c.262T>A (p.Trp88Arg)	VHL (W88R)	Single nucleotide variant (missense variant)	Chuvash polycythemia +3 more	GPathogenic
Select item 428805	NM_000551.4(VHL):c.263_265dup (p.Trp88_Leu89insArg)	VHL	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 949409	NM_000551.4(VHL):c.264_267dup (p.Asn90fs)	VHL (N90fs)	Duplication (frameshift variant)	Chuvash polycythemia +1 more	GPathogenic
Select item 182978	NM_000551.4(VHL):c.263G>A (p.Trp88Ter)	VHL (W88*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 2220	NM_000551.4(VHL):c.263G>C (p.Trp88Ser)	VHL (W88S)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 936684	NM_000551.4(VHL):c.264G>A (p.Trp88Ter)	VHL (W88*)	Single nucleotide variant (nonsense)	Von Hippel-Lindau syndrome +2 more	GPathogenic
Select item 580847	NM_000551.4(VHL):c.264G>C (p.Trp88Cys)	VHL (W88C)	Single nucleotide variant (missense variant)	Chuvash polycythemia +1 more	GPathogenic
Select item 223171	NM_000551.4(VHL):c.264G>T (p.Trp88Cys)	VHL (W88C)	Single nucleotide variant (missense variant)	Chuvash polycythemia +2 more	GPathogenic/Likely pathogenic
Select item 376047	NM_000551.4(VHL):c.266T>A (p.Leu89His)	VHL (L89H)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1	GLikely pathogenic
Select item 182979	NM_000551.4(VHL):c.266T>C (p.Leu89Pro)	VHL (L89P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic

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