"GeneDx"[submitter] AND "ADCY5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 1197518	NM_183357.3(ADCY5):c.*157G>T	ADCY5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 784018	NM_183357.3(ADCY5):c.3777G>A (p.Pro1259=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1387226	NM_183357.3(ADCY5):c.3710G>A (p.Cys1237Tyr)	ADCY5 (C1237Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 702999	NM_183357.3(ADCY5):c.3696G>A (p.Thr1232=)	ADCY5	Single nucleotide variant (synonymous variant)	Dyskinesia with orofacial involvement, autosomal dominant +3 more	GBenign/Likely benign
Select item 1181177	NM_183357.3(ADCY5):c.3658-104C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328850	NM_183357.3(ADCY5):c.3649C>T (p.Arg1217Cys)	ADCY5 (R1217C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 387359	NM_183357.3(ADCY5):c.3599G>T (p.Gly1200Val)	ADCY5 (G1200V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698109	NM_183357.3(ADCY5):c.3593T>C (p.Ile1198Thr)	ADCY5 (I1198T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451099	NM_183357.3(ADCY5):c.3584A>C (p.Gln1195Pro)	ADCY5 (Q1195P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303962	NM_183357.3(ADCY5):c.3559G>A (p.Gly1187Arg)	ADCY5 (G1187R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698004	NM_183357.3(ADCY5):c.3550G>A (p.Val1184Met)	ADCY5 (V1184M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1270434	NM_183357.3(ADCY5):c.3533-268T>C	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196345	NM_183357.3(ADCY5):c.3532+193C>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188956	NM_183357.3(ADCY5):c.3532+78A>C	ADCY5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1304235	NM_183357.3(ADCY5):c.3532+20G>T	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal recessive +3 more	GBenign/Likely benign
Select item 1314013	NM_183357.3(ADCY5):c.3385T>C (p.Tyr1129His)	ADCY5 (Y1129H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 703755	NM_183357.3(ADCY5):c.3375C>T (p.Ile1125=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2504268	NM_183357.3(ADCY5):c.3341A>G (p.Asp1114Gly)	ADCY5 (D1114G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327280	NM_183357.3(ADCY5):c.3331A>G (p.Ile1111Val)	ADCY5 (I1111V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1280954	NM_183357.3(ADCY5):c.3328-111C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200896	NM_183357.3(ADCY5):c.3328-164C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290314	NM_183357.3(ADCY5):c.3328-244C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260827	NM_183357.3(ADCY5):c.3327+136G>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267179	NM_183357.3(ADCY5):c.3327+101G>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2444797	NM_183357.3(ADCY5):c.3277G>A (p.Gly1093Ser)	ADCY5 (G1093S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451100	NM_183357.3(ADCY5):c.3274G>A (p.Glu1092Lys)	ADCY5 (E1092K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1209883	NM_183357.3(ADCY5):c.3253G>A (p.Val1085Ile)	ADCY5 (V1085I +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3365389	NM_183357.3(ADCY5):c.3236A>G (p.Asn1079Ser)	ADCY5 (N1079S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369451	NM_183357.3(ADCY5):c.3190T>C (p.Tyr1064His)	ADCY5 (Y1064H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389810	NM_183357.3(ADCY5):c.3169C>T (p.Arg1057Trp)	ADCY5 (R1057W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1695837	NM_183357.3(ADCY5):c.3163C>T (p.Arg1055Cys)	ADCY5 (R1055C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309213	NM_183357.3(ADCY5):c.3099G>T (p.Gln1033His)	ADCY5 (Q1033H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580705	NM_183357.3(ADCY5):c.3086T>G (p.Met1029Arg)	ADCY5 (M1029R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165394	NM_183357.3(ADCY5):c.3064-18G>A	ADCY5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1266083	NM_183357.3(ADCY5):c.3064-53C>T	ADCY5	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1197639	NM_183357.3(ADCY5):c.3064-76C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235319	NM_183357.3(ADCY5):c.3064-140G>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296581	NM_183357.3(ADCY5):c.3064-317C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290499	NM_183357.3(ADCY5):c.3063+258G>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246858	NM_183357.3(ADCY5):c.3063+216T>C	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273250	NM_183357.3(ADCY5):c.3063+162G>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188957	NM_183357.3(ADCY5):c.3063+54G>A	ADCY5	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1216062	NM_183357.3(ADCY5):c.3063+31G>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236068	NM_183357.3(ADCY5):c.3063+27G>A	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal recessive +3 more	GBenign
Select item 701916	NM_183357.3(ADCY5):c.3015C>A (p.Ala1005=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1327656	NM_183357.3(ADCY5):c.3013G>A (p.Ala1005Thr)	ADCY5 (A1005T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 703250	NM_183357.3(ADCY5):c.3012C>T (p.His1004=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1970706	NM_183357.3(ADCY5):c.2976C>G (p.Ile992Met)	ADCY5 (I992M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1191501	NM_183357.3(ADCY5):c.2949G>A (p.Lys983=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 620201	NM_183357.3(ADCY5):c.2931C>A (p.Cys977Ter)	ADCY5 (C977* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1188958	NM_183357.3(ADCY5):c.2931-31C>G	ADCY5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1186141	NM_183357.3(ADCY5):c.2931-32C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203161	NM_183357.3(ADCY5):c.2931-127G>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225450	NM_183357.3(ADCY5):c.2931-243C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296052	NM_183357.3(ADCY5):c.2931-258T>C	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264026	NM_183357.3(ADCY5):c.2930+280A>G	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246817	NM_183357.3(ADCY5):c.2930+164C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3371976	NM_183357.3(ADCY5):c.2902G>T (p.Asp968Tyr)	ADCY5 (D618Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1277715	NM_183357.3(ADCY5):c.2900+254C>G	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290625	NM_183357.3(ADCY5):c.2900+237G>C	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169341	NM_183357.3(ADCY5):c.2900+4T>C	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal dominant +4 more	GBenign
Select item 2063123	NM_183357.3(ADCY5):c.2890G>T (p.Ala964Ser)	ADCY5 (A964S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 706217	NM_183357.3(ADCY5):c.2866G>A (p.Asp956Asn)	ADCY5 (D606N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1308166	NM_183357.3(ADCY5):c.2848C>T (p.Pro950Ser)	ADCY5 (P600S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373792	NM_183357.3(ADCY5):c.2767G>A (p.Val923Met)	ADCY5 (V923M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 450184	NM_183357.3(ADCY5):c.2758G>T (p.Ala920Ser)	ADCY5 (A920S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1206563	NM_183357.3(ADCY5):c.2725-50C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228109	NM_183357.3(ADCY5):c.2725-172G>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248597	NM_183357.3(ADCY5):c.2725-185A>G	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187968	NM_183357.3(ADCY5):c.2725-193C>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272083	NM_183357.3(ADCY5):c.2725-277T>C	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273737	NM_183357.3(ADCY5):c.2724+192A>G	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188959	NM_183357.3(ADCY5):c.2724+64T>C	ADCY5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1189007	NM_183357.3(ADCY5):c.2724+32C>G	ADCY5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1303516	NM_183357.3(ADCY5):c.2707A>G (p.Asn903Asp)	ADCY5 (N553D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642841	NM_183357.3(ADCY5):c.2674G>A (p.Asp892Asn)	ADCY5 (D542N +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 809528	NM_183357.3(ADCY5):c.2645C>T (p.Ala882Val)	ADCY5 (A882V +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1804288	NM_183357.3(ADCY5):c.2639A>G (p.His880Arg)	ADCY5 (H530R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698022	NM_183357.3(ADCY5):c.2564C>T (p.Thr855Met)	ADCY5 (T505M +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1198515	NM_183357.3(ADCY5):c.2560-86G>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1329610	NM_183357.3(ADCY5):c.2560-108G>C	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226521	NM_183357.3(ADCY5):c.2560-247del	ADCY5	Deletion (intron variant)	not provided	GBenign
Select item 1180884	NM_183357.3(ADCY5):c.2560-302A>G	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277527	NM_183357.3(ADCY5):c.2559+230_2559+234del	ADCY5	Microsatellite (intron variant)	not provided	GBenign
Select item 1198689	NM_183357.3(ADCY5):c.2559+204_2559+233del	ADCY5	Deletion (intron variant)	not provided	GLikely benign
Select item 1185904	NM_183357.3(ADCY5):c.2559+219_2559+233del	ADCY5	Deletion (intron variant)	not provided	GLikely benign
Select item 1328894	NM_183357.3(ADCY5):c.2559+174CTCTT[12]	ADCY5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1255171	NM_183357.3(ADCY5):c.2559+229T>C	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250076	NM_183357.3(ADCY5):c.2559+189del	ADCY5	Deletion (intron variant)	not provided	GBenign
Select item 1260104	NM_183357.3(ADCY5):c.2559+184del	ADCY5	Deletion (intron variant)	not provided	GBenign
Select item 1296672	NM_183357.3(ADCY5):c.2559+173_2559+174insTCTTTTCTTCTCTTC	ADCY5	Microsatellite (intron variant)	not provided	GBenign
Select item 1296012	NM_183357.3(ADCY5):c.2559+174C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276176	NM_183357.3(ADCY5):c.2559+173_2559+174insTCTTTTCTTCTCTTCTCTTC	ADCY5	Microsatellite (intron variant)	not provided	GBenign
Select item 1264700	NM_183357.3(ADCY5):c.2559+173_2559+174insTCTTTTCTTC	ADCY5	Insertion (intron variant)	not provided	GBenign
Select item 1252211	NM_183357.3(ADCY5):c.2559+169_2559+173dup	ADCY5	Duplication (intron variant)	not provided	GBenign
Select item 1186244	NM_183357.3(ADCY5):c.2559+159C>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260896	NM_183357.3(ADCY5):c.2559+151G>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231807	NM_183357.3(ADCY5):c.2559+144G>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218571	NM_183357.3(ADCY5):c.2559+101G>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign

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