ClinVar for MedGen (Select 42458) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3074847	NM_000551.4(VHL):c.167C>A (p.Ala56Asp)	VHL (A56D)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 3074064	NM_000551.4(VHL):c.-5dup	VHL	Duplication (5 prime UTR variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 3074056	NM_000551.4(VHL):c.-13G>C	VHL	Single nucleotide variant (5 prime UTR variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 3073063	NM_000551.4(VHL):c.-70G>A	VHL	Single nucleotide variant (5 prime UTR variant +1 more)	Von Hippel-Lindau syndrome	GLikely benign
Select item 3072506	NM_000551.4(VHL):c.-50_-28dup	VHL	Duplication (5 prime UTR variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 3072183	NM_000551.4(VHL):c.86G>T (p.Gly29Val)	VHL (G29V)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 3072112	NM_000551.4(VHL):c.17_35dup (p.Val13fs)	VHL (V13fs)	Duplication (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 3071712	NM_000551.4(VHL):c.35A>T (p.Glu12Val)	VHL (E12V)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 3071394	NM_000551.4(VHL):c.3_4insGT (p.Pro2fs)	VHL (P2fs)	Insertion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 3071393	NM_000551.4(VHL):c.4_5insTCCG (p.Pro2fs)	VHL (P2fs)	Insertion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 3069691	NM_000551.4(VHL):c.80A>C (p.Glu27Ala)	VHL (E27A)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 3069676	NM_000551.4(VHL):c.-50_-28del	VHL	Deletion (5 prime UTR variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 3069625	NM_000551.4(VHL):c.464-11T>C	LOC107303340, VHL	Single nucleotide variant (intron variant)	Von Hippel-Lindau syndrome	GLikely benign
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 2954421	NM_000551.4(VHL):c.18G>C (p.Glu6Asp)	VHL (E6D)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2954265	NM_000551.4(VHL):c.537C>T (p.Asp179=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2954173	NC_000003.12:g.10141762_10141816del	VHL	Deletion	Chuvash polycythemia +1 more	GUncertain significance
Select item 2953643	NM_000551.4(VHL):c.198G>A (p.Val66=)	VHL	Single nucleotide variant (synonymous variant +1 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2953491	NM_000551.4(VHL):c.495T>A (p.Val165=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Von Hippel-Lindau syndrome +1 more	GLikely benign
Select item 2953483	NM_000551.4(VHL):c.505C>G (p.Leu169Val)	LOC107303340, VHL (L128V +1 more)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2953325	NM_000551.4(VHL):c.341-20A>G	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +1 more	GLikely benign
Select item 2953105	NM_000551.4(VHL):c.341-18C>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +1 more	GLikely benign
Select item 2952792	NM_000551.4(VHL):c.408dup (p.Val137fs)	LOC107303340, VHL (V137fs)	Duplication (frameshift variant +2 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 2952701	NM_000551.4(VHL):c.343C>A (p.His115Asn)	LOC107303340, VHL (H115N)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2952480	NM_000551.4(VHL):c.640T>C (p.Ter214Arg)	LOC107303340, VHL	Single nucleotide variant (stop lost +2 more)	Chuvash polycythemia +1 more	GLikely pathogenic
Select item 2952316	NM_000551.4(VHL):c.67T>A (p.Tyr23Asn)	VHL (Y23N)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2952181	NM_000551.4(VHL):c.138G>T (p.Glu46Asp)	VHL (E46D)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2951902	NM_000551.4(VHL):c.485_486delinsTT (p.Cys162Phe)	LOC107303340, VHL (C121F +1 more)	Indel (missense variant +2 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 2951826	NM_000551.4(VHL):c.477_478insTCA (p.Lys159_Glu160insSer)	LOC107303340, VHL	Insertion (inframe_insertion +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2951420	NM_000551.4(VHL):c.463+9G>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +1 more	GLikely benign
Select item 2950212	NM_000551.4(VHL):c.460C>A (p.Pro154Thr)	LOC107303340, VHL (P154T)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GLikely pathogenic
Select item 2949905	NM_000551.4(VHL):c.382_388del (p.Leu129fs)	LOC107303340, VHL (L129fs)	Deletion (frameshift variant +2 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 2949507	NM_000551.4(VHL):c.614G>C (p.Arg205Pro)	LOC107303340, VHL (R205P +1 more)	Single nucleotide variant (missense variant +2 more)	Von Hippel-Lindau syndrome +1 more	GUncertain significance
Select item 2949436	NM_000551.4(VHL):c.341-6C>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2949373	NM_000551.4(VHL):c.122A>G (p.Glu41Gly)	VHL (E41G)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance
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 2948920	NM_000551.4(VHL):c.282G>A (p.Glu94=)	VHL	Single nucleotide variant (synonymous variant +1 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2948859	NM_000551.4(VHL):c.118C>A (p.Pro40Thr)	VHL (P40T)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2948796	NM_000551.4(VHL):c.341-5_341-4delinsTT	LOC107303340, VHL	Indel (intron variant)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2948494	NM_000551.4(VHL):c.318C>T (p.Gly106=)	VHL	Single nucleotide variant (synonymous variant +1 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2948152	NM_000551.4(VHL):c.310_311insC (p.Gly104fs)	VHL (G104fs)	Insertion (frameshift variant +1 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 2947439	NM_000551.4(VHL):c.340+835G>A	LOC107303340, VHL	Single nucleotide variant (splice donor variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2947438	NM_000551.4(VHL):c.340+834G>C	LOC107303340, VHL	Single nucleotide variant (3 prime UTR variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2947436	NM_000551.4(VHL):c.340+818G>C	LOC107303340, VHL	Single nucleotide variant (3 prime UTR variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2947435	NM_000551.4(VHL):c.340+815T>G	LOC107303340, VHL	Single nucleotide variant (stop lost +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2947433	NM_000551.4(VHL):c.340+802G>C	LOC107303340, VHL (E189D)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2947387	NM_000551.4(VHL):c.340+606T>A	LOC107303340, VHL (V124E)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2947386	NM_000551.4(VHL):c.340+599T>A	LOC107303340, VHL (F122I)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2947306	NM_000551.4(VHL):c.135G>T (p.Pro45=)	VHL	Single nucleotide variant (synonymous variant +1 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2947247	NM_000551.4(VHL):c.340+584A>T	LOC107303340, VHL (T117S)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2947195	NM_000551.4(VHL):c.340+808G>C	LOC107303340, VHL (R191S)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2947188	NM_000551.4(VHL):c.340+576T>G	LOC107303340, VHL (V114G)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2947050	NM_000551.4(VHL):c.107_114del (p.Glu36fs)	VHL (E36fs)	Deletion (frameshift variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2946766	NM_000551.4(VHL):c.340+745A>G	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2946616	NM_000551.4(VHL):c.340+658A>G	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2946305	NM_000551.4(VHL):c.459G>T (p.Leu153=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Von Hippel-Lindau syndrome +1 more	GLikely benign
Select item 2946151	NM_000551.4(VHL):c.99G>T (p.Ser33=)	VHL	Single nucleotide variant (synonymous variant +1 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2946037	NM_000551.4(VHL):c.538A>C (p.Ile180Leu)	LOC107303340, VHL (I139L +1 more)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2946010	NM_000551.4(VHL):c.76G>C (p.Glu26Gln)	VHL (E26Q)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2946009	NM_000551.4(VHL):c.464-6T>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +1 more	GLikely benign
Select item 2945349	NM_000551.4(VHL):c.75_119del (p.Asp28_Glu42del)	VHL	Deletion (inframe_deletion +1 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2945027	NM_000551.4(VHL):c.340+2T>G	VHL	Single nucleotide variant (splice donor variant)	Chuvash polycythemia +1 more	GPathogenic
Select item 2944986	NM_000551.4(VHL):c.230G>A (p.Cys77Tyr)	VHL (C77Y)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2944769	NM_000551.4(VHL):c.340+670A>T	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2944663	NM_000551.4(VHL):c.340+721A>T	LOC107303340, VHL (K162N)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2944647	NM_000551.4(VHL):c.68A>G (p.Tyr23Cys)	VHL (Y23C)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2944454	NM_000551.4(VHL):c.463+15C>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +1 more	GLikely benign
Select item 2943789	NM_000551.4(VHL):c.72C>T (p.Gly24=)	VHL	Single nucleotide variant (synonymous variant +1 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2943402	NM_000551.4(VHL):c.305dup (p.Pro103fs)	VHL (P103fs)	Duplication (frameshift variant +1 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 2943276	NM_000551.4(VHL):c.340+833A>G	LOC107303340, VHL	Single nucleotide variant (3 prime UTR variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2943260	NM_000551.4(VHL):c.340+813A>G	LOC107303340, VHL (E193G)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2943258	NM_000551.4(VHL):c.573C>T (p.His191=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Von Hippel-Lindau syndrome +1 more	GLikely benign
Select item 2943249	NM_000551.4(VHL):c.340+757dup	LOC107303340, VHL (G175fs)	Duplication (frameshift variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2943203	NM_000551.4(VHL):c.133C>T (p.Pro45Ser)	VHL (P45S)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2943169	NM_000551.4(VHL):c.340+702del	LOC107303340, VHL (D156fs)	Deletion (frameshift variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2942977	NM_000551.4(VHL):c.340+703C>T	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2942953	NM_000551.4(VHL):c.340+628C>T	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2942863	NM_000551.4(VHL):c.582G>T (p.Val194=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2942719	NM_000551.4(VHL):c.340+623G>C	LOC107303340, VHL (E130Q)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2942417	NM_000551.4(VHL):c.340+799A>C	LOC107303340, VHL (E188D)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2942295	NM_000551.4(VHL):c.147C>A (p.Gly49=)	VHL	Single nucleotide variant (synonymous variant +1 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2942065	NM_000551.4(VHL):c.319C>A (p.Arg107Ser)	VHL (R107S)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 2941549	NM_000551.4(VHL):c.340+751G>C	LOC107303340, VHL (R172S)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2941547	NM_000551.4(VHL):c.609G>A (p.Gln203=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2941194	NM_000551.4(VHL):c.4C>A (p.Pro2Thr)	VHL (P2T)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2940951	NM_000551.4(VHL):c.291_292delinsAC (p.Tyr98His)	VHL (Y98H)	Indel (missense variant +1 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 2939877	NM_000551.4(VHL):c.340+664A>G	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2939192	NM_000551.4(VHL):c.510C>G (p.Val170=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2938630	NM_000551.4(VHL):c.340+735C>T	LOC107303340, VHL (P167L)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2937784	NM_000551.4(VHL):c.571C>T (p.His191Tyr)	LOC107303340, VHL (H150Y +1 more)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2936820	NM_000551.4(VHL):c.340+796G>A	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2936595	NM_000551.4(VHL):c.87C>A (p.Gly29=)	VHL	Single nucleotide variant (synonymous variant +1 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2935793	NM_000551.4(VHL):c.340+704C>G	LOC107303340, VHL (R157G)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GLikely benign
Select item 2934338	NM_000551.4(VHL):c.307C>T (p.Pro103Ser)	VHL (P103S)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 more	GUncertain significance
Select item 2934127	NM_000551.4(VHL):c.340+700C>A	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Von Hippel-Lindau syndrome +1 more	GUncertain significance
Select item 2934106	NM_000551.4(VHL):c.340+591T>A	LOC107303340, VHL (V119E)	Single nucleotide variant (missense variant +2 more)	Von Hippel-Lindau syndrome +1 more	GUncertain significance
Select item 2934082	NM_000551.4(VHL):c.119C>A (p.Pro40Gln)	VHL (P40Q)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 more	GUncertain significance
Select item 2933938	NM_000551.4(VHL):c.340+806A>G	LOC107303340, VHL (R191G)	Single nucleotide variant (missense variant +2 more)	Von Hippel-Lindau syndrome +1 more	GLikely benign
Select item 2933156	NM_000551.4(VHL):c.340+744G>A	LOC107303340, VHL (R170K)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2932590	NM_000551.4(VHL):c.247G>A (p.Val83Ile)	VHL (V83I)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance

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