Related gene-specific medical variations for Gene (Select 7428) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048471	NM_000551.4(VHL):c.341-50G>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	VHL-related condition	GLikely benign
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 2953491	NM_000551.4(VHL):c.495T>A (p.Val165=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Chuvash polycythemia +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 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)	Chuvash polycythemia +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 2948796	NM_000551.4(VHL):c.341-5_341-4delinsTT	LOC107303340, VHL	Indel (intron variant)	Chuvash polycythemia +1 more	GUncertain significance
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 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 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)	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 2946009	NM_000551.4(VHL):c.464-6T>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +1 more	GLikely benign
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 2944454	NM_000551.4(VHL):c.463+15C>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +1 more	GLikely benign
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)	Chuvash polycythemia +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 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 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 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 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 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 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 2931609	NM_000551.4(VHL):c.340+610C>T	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Von Hippel-Lindau syndrome +1 more	GLikely benign
Select item 2928556	NM_000551.4(VHL):c.478G>A (p.Glu160Lys)	LOC107303340, VHL (E160K +1 more)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2928364	NM_000551.4(VHL):c.464-7C>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +1 more	GLikely benign
Select item 2928273	NM_000551.4(VHL):c.398C>G (p.Thr133Ser)	LOC107303340, VHL (T133S)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2928016	NM_000551.4(VHL):c.442T>G (p.Phe148Val)	LOC107303340, VHL (F148V)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2927177	NM_000551.4(VHL):c.341G>T (p.Gly114Val)	LOC107303340, VHL (G114V)	Single nucleotide variant (non-coding transcript variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2925348	NM_000551.4(VHL):c.555C>A (p.Tyr185Ter)	LOC107303340, VHL (Y144* +1 more)	Single nucleotide variant (nonsense +2 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 2925347	NM_000551.4(VHL):c.493del (p.Val165fs)	LOC107303340, VHL (V165fs +1 more)	Deletion (frameshift variant +2 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 2925346	NM_000551.4(VHL):c.464-2A>C	LOC107303340, VHL	Single nucleotide variant (splice acceptor variant)	Chuvash polycythemia +1 more	GPathogenic
Select item 2925345	NM_000551.4(VHL):c.455C>T (p.Thr152Ile)	LOC107303340, VHL (T152I)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2925344	NM_000551.4(VHL):c.350G>C (p.Trp117Ser)	LOC107303340, VHL (W117S)	Single nucleotide variant (missense variant +2 more)	Chuvash polycythemia +1 more	GLikely pathogenic
Select item 2923307	NM_000551.4(VHL):c.463+18T>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +1 more	GLikely benign
Select item 2921908	NM_000551.4(VHL):c.607_623del (p.Gln203fs)	LOC107303340, VHL (Q162fs +1 more)	Deletion (frameshift variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2921844	NM_000551.4(VHL):c.372_375del (p.His125fs)	LOC107303340, VHL (H125fs)	Microsatellite (intron variant +2 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 2921519	NM_000551.4(VHL):c.340+689del	LOC107303340, VHL (A152fs)	Deletion (non-coding transcript variant +2 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2692069	NM_000551.4(VHL):c.341-36G>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2692068	NM_000551.4(VHL):c.340+855G>C	LOC107303340, VHL	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2683684	NM_000551.4(VHL):c.351G>A (p.Trp117Ter)	LOC107303340, VHL (W117*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 2679582	NM_000551.4(VHL):c.-89_-51del	VHL	Deletion	Chuvash polycythemia	GLikely pathogenic
Select item 2679580	NM_000551.4(VHL):c.13G>A (p.Ala5Thr)	VHL (A5T)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia	GUncertain significance
Select item 2679579	NM_000551.4(VHL):c.305C>G (p.Pro102Arg)	VHL (P102R)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia	GUncertain significance
Select item 2674431	NM_000551.4(VHL):c.555_557del (p.Tyr185_Glu186delinsTer)	LOC107303340, VHL	Deletion (nonsense +2 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 2674429	NM_000551.4(VHL):c.341-1G>T	LOC107303340, VHL	Single nucleotide variant (intron variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 2630211	NM_000551.4(VHL):c.340+767G>A	LOC107303340, VHL (V178I)	Single nucleotide variant (missense variant +2 more)	VHL-related condition	GUncertain significance
Select item 2624782	NM_000551.4(VHL):c.493G>A (p.Val165Ile)	LOC107303340, VHL (V124I +1 more)	Single nucleotide variant (missense variant +2 more)	Von Hippel-Lindau syndrome +2 more	GUncertain significance
Select item 2600046	NM_000551.4(VHL):c.510C>A (p.Val170=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 2586592	NM_000551.4(VHL):c.464-7_464-3del	LOC107303340, VHL	Deletion (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2582026	NM_000551.4(VHL):c.*9G>C	LOC107303340, VHL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2578933	NM_000551.4(VHL):c.464-1013G>C	LOC107303340, VHL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2566468	NM_000551.4(VHL):c.580G>A (p.Val194Met)	LOC107303340, VHL (V153M +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2504636	NM_000551.4(VHL):c.597del (p.Glu199fs)	LOC107303340, VHL (E158fs +1 more)	Deletion (frameshift variant +2 more)	Von Hippel-Lindau syndrome	GPathogenic
Select item 2474487	NM_000551.4(VHL):c.592_607del (p.Leu198fs)	LOC107303340, VHL (L157fs +1 more)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 2474357	NM_000551.4(VHL):c.621A>T (p.Ala207=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2451974	NM_000551.4(VHL):c.439A>T (p.Ile147Phe)	LOC107303340, VHL (I147F)	Single nucleotide variant (missense variant +2 more)	VHL-related condition +1 more	GUncertain significance
Select item 2451972	NM_000551.4(VHL):c.636A>T (p.Gly212=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2451969	NM_000551.4(VHL):c.343C>T (p.His115Tyr)	LOC107303340, VHL (H115Y)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 2417858	NM_000551.4(VHL):c.514C>T (p.Pro172Ser)	LOC107303340, VHL (P131S +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +2 more	GUncertain significance
Select item 2203307	NM_000551.4(VHL):c.464T>G (p.Val155Gly)	LOC107303340, VHL (V114G +1 more)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GLikely pathogenic
Select item 2203306	NM_000551.4(VHL):c.361G>A (p.Asp121Asn)	LOC107303340, VHL (D121N)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 2195856	NM_000551.4(VHL):c.463+14A>C	LOC107303340, VHL	Single nucleotide variant (intron variant)	Von Hippel-Lindau syndrome +1 more	GLikely benign
Select item 2184762	NM_000551.4(VHL):c.633G>A (p.Met211Ile)	LOC107303340, VHL (M211I +1 more)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2175644	NM_000551.4(VHL):c.340+673C>G	LOC107303340, VHL (S146R)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 more	GUncertain significance
Select item 2163818	NM_000551.4(VHL):c.464-17G>C	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +1 more	GLikely benign

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