ClinVar for Gene (Select 51098) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285432	NM_016004.5(IFT52):c.202G>C (p.Ala68Pro)	IFT52 (A68P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	ACOT8, ADA +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 3108412	NM_016004.5(IFT52):c.997A>G (p.Thr333Ala)	IFT52 (T157A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3108411	NM_016004.5(IFT52):c.97C>T (p.Arg33Trp)	IFT52 (R33W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108410	NM_016004.5(IFT52):c.883A>G (p.Ile295Val)	IFT52 (I119V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108409	NM_016004.5(IFT52):c.835G>C (p.Glu279Gln)	IFT52 (E103Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108408	NM_016004.5(IFT52):c.824A>G (p.Glu275Gly)	IFT52 (E275G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108406	NM_016004.5(IFT52):c.401G>A (p.Gly134Glu)	IFT52 (G134E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108405	NM_016004.5(IFT52):c.346G>A (p.Val116Ile)	IFT52 (V116I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108404	NM_016004.5(IFT52):c.188A>G (p.Glu63Gly)	IFT52 (E63G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108403	NM_016004.5(IFT52):c.1217T>C (p.Ile406Thr)	IFT52 (I189T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040968	NM_016004.5(IFT52):c.921C>T (p.Ile307=)	IFT52	Single nucleotide variant (synonymous variant)	IFT52-related disorder	GLikely benign
Select item 3018008	NM_016004.5(IFT52):c.1233C>T (p.Phe411=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3009311	NM_016004.5(IFT52):c.337+14T>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004213	NM_016004.5(IFT52):c.345G>A (p.Val115=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998019	NM_016004.5(IFT52):c.769-12_769-11insTGTGAAAGCCTCTT	IFT52	Insertion (intron variant)	not provided	GLikely benign
Select item 2997717	NM_016004.5(IFT52):c.119+15A>G	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997209	NM_016004.5(IFT52):c.119+11A>G	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980810	NM_016004.5(IFT52):c.1158T>C (p.Cys386=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978850	NM_016004.5(IFT52):c.1012-20A>G	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978548	NM_016004.5(IFT52):c.1227C>T (p.His409=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2975554	NM_016004.5(IFT52):c.1267-19G>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975284	NM_016004.5(IFT52):c.612+18T>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973871	NM_016004.5(IFT52):c.119+20G>A	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970280	NM_016004.5(IFT52):c.546G>C (p.Ala182=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2969153	NM_016004.5(IFT52):c.1278C>T (p.Ile426=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961413	NM_016004.5(IFT52):c.207+15C>T	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894930	NM_016004.5(IFT52):c.120-10G>A	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889220	NM_016004.5(IFT52):c.873C>T (p.Phe291=)	IFT52	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882087	NM_016004.5(IFT52):c.923+10T>A	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878578	NM_016004.5(IFT52):c.238G>A (p.Gly80Ser)	IFT52 (G80S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2876446	NM_016004.5(IFT52):c.219G>A (p.Leu73=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2837532	NM_016004.5(IFT52):c.501G>A (p.Val167=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2809509	NM_016004.5(IFT52):c.576A>G (p.Pro192=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2806240	NM_016004.5(IFT52):c.337+8G>T	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801122	NM_016004.5(IFT52):c.1120+11C>G	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795022	NM_016004.5(IFT52):c.337+20T>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790197	NM_016004.5(IFT52):c.1257A>G (p.Lys419=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2787151	NM_016004.5(IFT52):c.201A>G (p.Ala67=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2723712	NM_016004.5(IFT52):c.291C>T (p.Thr97=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2703787	NM_016004.5(IFT52):c.613-18C>T	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693215	NM_016004.5(IFT52):c.414-12T>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2613540	NM_016004.5(IFT52):c.144G>T (p.Glu48Asp)	IFT52 (E48D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545805	NM_016004.5(IFT52):c.924G>C (p.Glu308Asp)	IFT52 (E308D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494855	NM_016004.5(IFT52):c.1175T>C (p.Val392Ala)	IFT52 (V392A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468346	NM_016004.5(IFT52):c.722C>T (p.Thr241Met)	IFT52 (T24M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	ACOT8, ADA +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 2418604	NM_016004.5(IFT52):c.560G>C (p.Gly187Ala)	IFT52 (G11A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2414856	NM_016004.5(IFT52):c.429del (p.Ala144fs)	IFT52 (A144fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2334176	NM_016004.5(IFT52):c.1243G>A (p.Val415Met)	IFT52 (V415M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330041	NM_016004.5(IFT52):c.571T>C (p.Phe191Leu)	IFT52 (F15L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285507	NM_016004.5(IFT52):c.455T>C (p.Ile152Thr)	IFT52 (I152T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274117	NM_016004.5(IFT52):c.196A>G (p.Thr66Ala)	IFT52 (T66A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254860	NM_016004.5(IFT52):c.701A>T (p.Asp234Val)	IFT52 (D17V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223024	NM_016004.5(IFT52):c.1143T>A (p.Phe381Leu)	IFT52 (F381L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2192816	NM_016004.5(IFT52):c.486-10T>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2192537	NM_016004.5(IFT52):c.216C>A (p.Ile72=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2189569	NM_016004.5(IFT52):c.989C>T (p.Pro330Leu)	IFT52 (P330L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185906	NM_016004.5(IFT52):c.1146T>C (p.Tyr382=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2178966	NM_016004.5(IFT52):c.768+10G>A	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2177345	NM_016004.5(IFT52):c.649C>T (p.His217Tyr)	IFT52 (H41Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2176838	NM_016004.5(IFT52):c.65A>C (p.Asn22Thr)	IFT52 (N22T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2140996	NM_016004.5(IFT52):c.1012-3T>C	IFT52	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2140158	NM_016004.5(IFT52):c.814C>T (p.Arg272Trp)	IFT52 (R96W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122172	NM_016004.5(IFT52):c.159_160delinsAG (p.Lys54Glu)	IFT52 (K54E)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2108600	NM_016004.5(IFT52):c.489T>C (p.Ala163=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2089669	NM_016004.5(IFT52):c.120-5T>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2077785	NM_016004.5(IFT52):c.613-128_622del	IFT52	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 2076240	NM_016004.5(IFT52):c.425G>A (p.Arg142Gln)	IFT52 (R142Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2019457	NM_016004.5(IFT52):c.63C>G (p.Thr21=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2018820	NM_016004.5(IFT52):c.1308T>C (p.Asn436=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1996431	NM_016004.5(IFT52):c.998C>A (p.Thr333Asn)	IFT52 (T116N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989454	NM_016004.5(IFT52):c.1026T>A (p.Ser342Arg)	IFT52 (S166R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982800	NM_016004.5(IFT52):c.964C>T (p.Leu322Phe)	IFT52 (L146F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973837	NM_016004.5(IFT52):c.1030C>T (p.Arg344Trp)	IFT52 (R344W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961767	NM_016004.5(IFT52):c.723G>A (p.Thr241=)	IFT52	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958891	NM_016004.5(IFT52):c.1254G>A (p.Lys418=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1957025	NM_016004.5(IFT52):c.1121-4T>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1953170	NM_016004.5(IFT52):c.1286G>A (p.Ser429Asn)	IFT52 (S212N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1949524	NM_016004.5(IFT52):c.414-9T>G	IFT52	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1944006	NM_016004.5(IFT52):c.1120+20T>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941097	NM_016004.5(IFT52):c.1120+11C>T	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927431	NM_016004.5(IFT52):c.290_293dup (p.Ile99fs)	IFT52 (I99fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1922528	NM_016004.5(IFT52):c.700-15_700-14insC	IFT52	Insertion (intron variant)	not provided	GLikely benign
Select item 1917663	NM_016004.5(IFT52):c.700-18_700-17insA	IFT52	Insertion (intron variant)	not provided	GLikely benign
Select item 1916813	NM_016004.5(IFT52):c.731A>G (p.Asp244Gly)	IFT52 (D27G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910650	NM_016004.5(IFT52):c.490C>T (p.Leu164Phe)	IFT52 (L164F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1909692	NM_016004.5(IFT52):c.1266+18C>T	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908887	NM_016004.5(IFT52):c.1076C>T (p.Thr359Met)	IFT52 (T142M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908748	NM_016004.5(IFT52):c.119+11A>T	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908045	NM_016004.5(IFT52):c.727G>A (p.Gly243Arg)	IFT52 (G243R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904987	NM_016004.5(IFT52):c.1311C>T (p.Phe437=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1902618	NM_016004.5(IFT52):c.120C>G (p.Ser40Arg)	IFT52 (S40R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1899507	NM_016004.5(IFT52):c.338-18T>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899416	NM_016004.5(IFT52):c.852A>G (p.Pro284=)	IFT52	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898900	NM_016004.5(IFT52):c.1228G>A (p.Val410Ile)	IFT52 (V234I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1683682	NM_016004.5(IFT52):c.1189C>T (p.Pro397Ser)	IFT52 (P180S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1663611	NM_016004.5(IFT52):c.337+13A>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662305	NM_016004.5(IFT52):c.700-9_700-8dup	IFT52	Duplication (intron variant)	not provided	GBenign
Select item 1658985	NM_016004.5(IFT52):c.338-17C>G	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign

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