ClinVar for Gene (Select 111) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246912	NC_000003.11:g.(?_123003455)_(123512688_?)dup	ADCY5, HACD2 +1 more	Duplication	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 3236617	NM_183357.3(ADCY5):c.2162G>C (p.Gly721Ala)	ADCY5 (G371A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	GUncertain significance
Select item 3234740	NM_183357.3(ADCY5):c.1171A>G (p.Ile391Val)	ADCY5 (I391V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234706	NM_183357.3(ADCY5):c.2861T>C (p.Leu954Pro)	ADCY5 (L604P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234284	NM_183357.3(ADCY5):c.959C>A (p.Pro320Gln)	ADCY5 (P320Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234079	NM_183357.3(ADCY5):c.1768A>G (p.Thr590Ala)	ADCY5 (T240A +1 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 3233973	NM_183357.3(ADCY5):c.1285-6C>G	ADCY5	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3081909	NM_183357.3(ADCY5):c.3764A>G (p.Asn1255Ser)	ADCY5 (N1255S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3081905	NM_183357.3(ADCY5):c.3717C>T (p.Gly1239=)	ADCY5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3081901	NM_183357.3(ADCY5):c.350G>A (p.Arg117Gln)	ADCY5 (R117Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3081870	NM_183357.3(ADCY5):c.2936A>C (p.Glu979Ala)	ADCY5 (E1004A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3081864	NM_183357.3(ADCY5):c.2890G>A (p.Ala964Thr)	ADCY5 (A614T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3081831	NM_183357.3(ADCY5):c.2057G>A (p.Gly686Asp)	ADCY5 (G686D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3081809	NM_183357.3(ADCY5):c.140G>C (p.Gly47Ala)	ADCY5 (G47A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068694	NM_183357.3(ADCY5):c.1883G>A (p.Arg628His)	ADCY5 (R278H +1 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 3067440	NM_183357.3(ADCY5):c.818T>G (p.Val273Gly)	ADCY5 (V273G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3058303	NM_183357.3(ADCY5):c.1014C>G (p.Thr338=)	ADCY5	Single nucleotide variant (synonymous variant)	ADCY5-related disorder	GLikely benign
Select item 3027001	NM_183357.3(ADCY5):c.3783_*3del (p.Ter1262CysextTer?)	ADCY5	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3024008	NM_183357.3(ADCY5):c.1268G>A (p.Arg423Gln)	ADCY5 (R73Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023956	NM_183357.3(ADCY5):c.2930+7T>C	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020294	NM_183357.3(ADCY5):c.2298G>C (p.Ala766=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009350	NM_183357.3(ADCY5):c.1407-19T>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008786	NM_183357.3(ADCY5):c.1945C>T (p.Arg649Trp)	ADCY5 (R649W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008008	NM_183357.3(ADCY5):c.1285-17dup	ADCY5	Duplication (intron variant)	not provided	GLikely benign
Select item 3007352	NM_183357.3(ADCY5):c.3328-6A>C	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006775	NM_183357.3(ADCY5):c.1930C>T (p.Arg644Cys)	ADCY5 (R294C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005341	NM_183357.3(ADCY5):c.2559+15G>C	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001221	NM_183357.3(ADCY5):c.2279G>T (p.Arg760Leu)	ADCY5 (R760L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997360	NM_183357.3(ADCY5):c.822G>A (p.Leu274=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994225	NM_183357.3(ADCY5):c.2318T>C (p.Leu773Pro)	ADCY5 (L773P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993581	NM_183357.3(ADCY5):c.3126C>T (p.Asn1042=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992907	NM_183357.3(ADCY5):c.3165C>T (p.Arg1055=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990613	NM_183357.3(ADCY5):c.2560-3C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2989454	NM_183357.3(ADCY5):c.1947+19G>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989198	NM_183357.3(ADCY5):c.871G>A (p.Ala291Thr)	ADCY5 (A291T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989050	NM_183357.3(ADCY5):c.3243C>T (p.Ser1081=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988005	NM_183357.3(ADCY5):c.3232G>A (p.Ala1078Thr)	ADCY5 (A1078T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987356	NM_183357.3(ADCY5):c.3742G>A (p.Glu1248Lys)	ADCY5 (E898K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982162	NM_183357.3(ADCY5):c.3408C>T (p.Asn1136=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978694	NM_183357.3(ADCY5):c.460C>T (p.Arg154Cys)	ADCY5 (R154C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976952	NM_183357.3(ADCY5):c.3231C>T (p.Ile1077=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976520	NM_183357.3(ADCY5):c.215G>T (p.Arg72Leu)	ADCY5 (R72L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2975729	NM_183357.3(ADCY5):c.828_829delinsTC (p.Ala277Pro)	ADCY5 (A277P)	Indel (missense variant)	not provided	GUncertain significance
Select item 2974039	NM_183357.3(ADCY5):c.415_425del (p.Ser139fs)	ADCY5 (S139fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2974032	NM_183357.3(ADCY5):c.2916C>T (p.Asn972=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972486	NM_183357.3(ADCY5):c.1947+18C>G	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972360	NM_183357.3(ADCY5):c.2817C>T (p.Ile939=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972304	NM_183357.3(ADCY5):c.915C>T (p.Leu305=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971949	NM_183357.3(ADCY5):c.740C>T (p.Ala247Val)	ADCY5 (A247V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2971323	NM_183357.3(ADCY5):c.2982C>T (p.Ile994=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970431	NM_183357.3(ADCY5):c.1773A>G (p.Leu591=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969100	NM_183357.3(ADCY5):c.2981T>C (p.Ile994Thr)	ADCY5 (I1019T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968609	NM_183357.3(ADCY5):c.2616C>T (p.Ser872=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967594	NM_183357.3(ADCY5):c.1806-7C>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967220	NM_183357.3(ADCY5):c.2560-19C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965931	NM_183357.3(ADCY5):c.1646+17C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964721	NM_183357.3(ADCY5):c.285C>T (p.Phe95=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962196	NM_183357.3(ADCY5):c.326A>T (p.Asp109Val)	ADCY5 (D109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961871	NM_183357.3(ADCY5):c.1389G>A (p.Gln463=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909258	NM_183357.3(ADCY5):c.130C>A (p.His44Asn)	ADCY5 (H44N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2908686	NM_183357.3(ADCY5):c.526G>C (p.Gly176Arg)	ADCY5 (G176R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2903910	NM_183357.3(ADCY5):c.1734G>A (p.Arg578=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903571	NM_183357.3(ADCY5):c.2377T>C (p.Tyr793His)	ADCY5 (Y443H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2902445	NM_183357.3(ADCY5):c.3399C>T (p.Ser1133=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901811	NM_183357.3(ADCY5):c.1125G>T (p.Leu375=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901541	NM_183357.3(ADCY5):c.3338A>G (p.Glu1113Gly)	ADCY5 (E1138G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901277	NM_183357.3(ADCY5):c.3333C>T (p.Ile1111=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899456	NM_183357.3(ADCY5):c.238G>C (p.Asp80His)	ADCY5 (D80H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899079	NM_183357.3(ADCY5):c.1947+7G>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897797	NM_183357.3(ADCY5):c.3657+19A>G	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895362	NM_183357.3(ADCY5):c.126_131del (p.Pro43_His44del)	ADCY5	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2892878	NM_183357.3(ADCY5):c.2661C>T (p.Asn887=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892206	NM_183357.3(ADCY5):c.1197G>T (p.Pro399=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888416	NM_183357.3(ADCY5):c.3543C>T (p.Ile1181=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887234	NM_183357.3(ADCY5):c.3409G>A (p.Asp1137Asn)	ADCY5 (D1162N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886377	NM_183357.3(ADCY5):c.808T>A (p.Tyr270Asn)	ADCY5 (Y270N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2874719	NM_183357.3(ADCY5):c.2781C>T (p.Ile927=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874150	NM_183357.3(ADCY5):c.2541G>A (p.Leu847=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871196	NM_183357.3(ADCY5):c.308G>T (p.Trp103Leu)	ADCY5 (W103L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869118	NM_183357.3(ADCY5):c.439G>A (p.Gly147Ser)	ADCY5 (G147S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863241	NM_183357.3(ADCY5):c.3043G>C (p.Asp1015His)	ADCY5 (D1015H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860270	NM_183357.3(ADCY5):c.1987A>C (p.Arg663=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858608	NM_183357.3(ADCY5):c.1116C>G (p.Asp372Glu)	ADCY5 (D372E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844829	NM_183357.3(ADCY5):c.646T>G (p.Phe216Val)	ADCY5 (F216V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832614	NM_183357.3(ADCY5):c.2089-3T>C	ADCY5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2827816	NM_183357.3(ADCY5):c.117G>A (p.Ala39=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827332	NM_183357.3(ADCY5):c.1116C>A (p.Asp372Glu)	ADCY5 (D372E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824272	NM_183357.3(ADCY5):c.1134+8C>G	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808470	NM_183357.3(ADCY5):c.2430C>T (p.Tyr810=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808367	NM_183357.3(ADCY5):c.2145A>C (p.Glu715Asp)	ADCY5 (E365D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804168	NM_183357.3(ADCY5):c.2481C>G (p.Ile827Met)	ADCY5 (I477M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803118	NM_183357.3(ADCY5):c.1659G>A (p.Glu553=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800212	NM_183357.3(ADCY5):c.129C>T (p.Pro43=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790926	NM_183357.3(ADCY5):c.1135-18T>C	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788540	NM_183357.3(ADCY5):c.676C>G (p.Leu226Val)	ADCY5 (L226V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770351	NM_183357.3(ADCY5):c.947G>T (p.Gly316Val)	ADCY5 (G316V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2765659	NM_183357.3(ADCY5):c.320G>T (p.Gly107Val)	ADCY5 (G107V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758659	NM_183357.3(ADCY5):c.2509G>T (p.Val837Phe)	ADCY5 (V487F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2754359	NM_183357.3(ADCY5):c.1170C>T (p.Asn390=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2753513	NM_183357.3(ADCY5):c.3082G>A (p.Glu1028Lys)	ADCY5 (E678K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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