ADCY3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	ATAD2B, ATP6V1C2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 152842	GRCh38/hg38 2p23.3(chr2:24732367-24876531)x3	ADCY3, CENPO +5 more	Copy number gain	See cases	GUncertain significance
Select item 3051021	NM_004036.5(ADCY3):c.*9G>A	ADCY3, CENPO	Single nucleotide variant (3 prime UTR variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 3044157	NM_004036.5(ADCY3):c.3414_*3dup (p.His1138_Ter1145=)	ADCY3, CENPO	Duplication (no sequence alteration +2 more)	ADCY3-related disorder	GUncertain significance
Select item 3081613	NM_004036.5(ADCY3):c.3404C>T (p.Thr1135Ile)	ADCY3, CENPO (T1135I +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1433686	NM_004036.5(ADCY3):c.3400G>A (p.Val1134Ile)	ADCY3, CENPO (V1088I +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1580210	NM_004036.5(ADCY3):c.3390T>C (p.Asn1130=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 495047	NM_004036.5(ADCY3):c.3348CTT[2] (p.Phe1118del)	ADCY3, CENPO (F1118del +4 more)	Microsatellite (inframe_deletion +2 more)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19	Grisk factor
Select item 3081610	NM_004036.5(ADCY3):c.3352T>G (p.Phe1118Val)	ADCY3, CENPO (F1140V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 495044	NM_004036.5(ADCY3):c.3315del (p.Ile1106fs)	ADCY3, CENPO (I1107fs +4 more)	Deletion (frameshift variant +2 more)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19	Grisk factor
Select item 3048198	NM_004036.5(ADCY3):c.3307C>A (p.Arg1103=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 3045323	NM_004036.5(ADCY3):c.3296G>A (p.Arg1099His)	ADCY3, CENPO (R1053H +4 more)	Single nucleotide variant (missense variant +2 more)	ADCY3-related disorder	GUncertain significance
Select item 3081604	NM_004036.5(ADCY3):c.3289G>A (p.Gly1097Ser)	ADCY3, CENPO (G1051S +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3054987	NM_004036.5(ADCY3):c.3253-9C>T	ADCY3, CENPO	Single nucleotide variant (3 prime UTR variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 2787438	NM_004036.5(ADCY3):c.3252+5G>T	ADCY3, CENPO	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3044576	NM_004036.5(ADCY3):c.3235G>A (p.Val1079Ile)	ADCY3, CENPO (V1033I +5 more)	Single nucleotide variant (missense variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 3036607	NM_004036.5(ADCY3):c.3231G>A (p.Thr1077=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 2532716	NM_004036.5(ADCY3):c.3230C>T (p.Thr1077Met)	ADCY3, CENPO (T1031M +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2630155	NM_004036.5(ADCY3):c.3222G>A (p.Met1074Ile)	ADCY3, CENPO (M1028I +5 more)	Single nucleotide variant (missense variant +2 more)	ADCY3-related disorder	GUncertain significance
Select item 3031528	NM_004036.5(ADCY3):c.3216C>T (p.Ser1072=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 3061463	NM_004036.5(ADCY3):c.3204C>T (p.Val1068=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 3047342	NM_004036.5(ADCY3):c.3183C>T (p.Tyr1061=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 1634482	NM_004036.5(ADCY3):c.3141C>T (p.Gly1047=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder +1 more	GLikely benign
Select item 3054571	NM_004036.5(ADCY3):c.3128-8T>G	ADCY3, CENPO	Single nucleotide variant (3 prime UTR variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 1551875	NM_004036.5(ADCY3):c.3127+12C>T	ADCY3, CENPO	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1992163	NM_004036.5(ADCY3):c.3127+11C>G	ADCY3, CENPO	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 3030486	NM_004036.5(ADCY3):c.3125T>C (p.Ile1042Thr)	ADCY3, CENPO (I1042T +5 more)	Single nucleotide variant (missense variant +2 more)	ADCY3-related disorder	GUncertain significance
Select item 2431687	NM_004036.5(ADCY3):c.3122G>A (p.Arg1041His)	ADCY3, CENPO (R1041H +5 more)	Single nucleotide variant (missense variant +2 more)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19	GUncertain significance
Select item 3047117	NM_004036.5(ADCY3):c.3114C>T (p.Phe1038=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 774810	NM_004036.5(ADCY3):c.3096C>T (p.Asn1032=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 3031092	NM_004036.5(ADCY3):c.3078G>A (p.Thr1026=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 3081594	NM_004036.5(ADCY3):c.3052G>A (p.Asp1018Asn)	ADCY3, CENPO (D1019N +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3033953	NM_004036.5(ADCY3):c.3051C>T (p.Ala1017=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 3031054	NM_004036.5(ADCY3):c.3023A>C (p.Glu1008Ala)	ADCY3, CENPO (E1008A +5 more)	Single nucleotide variant (missense variant +2 more)	ADCY3-related disorder	GUncertain significance
Select item 3048673	NM_004036.5(ADCY3):c.3015C>T (p.Ser1005=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 2632007	NM_004036.5(ADCY3):c.3000C>A (p.Asn1000Lys)	ADCY3 (N1000K +5 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 2716160	NM_004036.5(ADCY3):c.2982T>C (p.Asn994=)	ADCY3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2265012	NM_004036.5(ADCY3):c.2978C>G (p.Thr993Ser)	ADCY3 (T752S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059126	NM_004036.5(ADCY3):c.2967C>T (p.Pro989=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3038506	NM_004036.5(ADCY3):c.2949G>A (p.Ala983=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3043252	NM_004036.5(ADCY3):c.2916C>A (p.Thr972=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 1897172	NM_004036.5(ADCY3):c.2884-18C>A	ADCY3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978639	NM_004036.5(ADCY3):c.2883+1G>C	ADCY3	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1641173	NM_004036.5(ADCY3):c.2871A>G (p.Ser957=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3043752	NM_004036.5(ADCY3):c.2802C>T (p.Asp934=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 3081589	NM_004036.5(ADCY3):c.2756A>G (p.Tyr919Cys)	ADCY3 (Y920C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 770867	NM_004036.5(ADCY3):c.2754G>A (p.Thr918=)	ADCY3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2531152	NM_004036.5(ADCY3):c.2753C>T (p.Thr918Met)	ADCY3 (T918M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240995	NM_004036.5(ADCY3):c.2723A>C (p.Lys908Thr)	ADCY3 (K862T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2629445	NM_004036.5(ADCY3):c.2665G>A (p.Glu889Lys)	ADCY3 (E648K +5 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3038767	NM_004036.5(ADCY3):c.2656C>T (p.Arg886Cys)	ADCY3 (R645C +5 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 2396867	NM_004036.5(ADCY3):c.2652G>A (p.Met884Ile)	ADCY3 (M643I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032224	NM_004036.5(ADCY3):c.2643C>T (p.Val881=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3052723	NM_004036.5(ADCY3):c.2598A>G (p.Thr866=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 495046	NM_004036.5(ADCY3):c.2578-1G>A	ADCY3	Single nucleotide variant (splice acceptor variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19	Grisk factor
Select item 1598739	NM_004036.5(ADCY3):c.2578-3T>C	ADCY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3032688	NM_004036.5(ADCY3):c.2577+10G>A	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
Select item 2170360	NM_004036.5(ADCY3):c.2577C>T (p.His859=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3060027	NM_004036.5(ADCY3):c.2574C>A (p.Arg858=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 2224501	NM_004036.5(ADCY3):c.2567T>A (p.Phe856Tyr)	ADCY3 (F856Y +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3036467	NM_004036.5(ADCY3):c.2551C>G (p.Leu851Val)	ADCY3 (L610V +4 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 2404857	NM_004036.5(ADCY3):c.2540T>G (p.Phe847Cys)	ADCY3 (F801C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1599461	NM_004036.5(ADCY3):c.2529G>A (p.Thr843=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2041986	NM_004036.5(ADCY3):c.2526G>A (p.Met842Ile)	ADCY3 (M601I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2414378	NM_004036.5(ADCY3):c.2517G>A (p.Lys839=)	ADCY3	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2631875	NM_004036.5(ADCY3):c.2496-13C>T	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GUncertain significance
Select item 1988655	NM_004036.5(ADCY3):c.2496-15C>T	ADCY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1661098	NM_004036.5(ADCY3):c.2495+12G>A	ADCY3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963288	NM_004036.5(ADCY3):c.2495+11C>T	ADCY3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 722694	NM_004036.5(ADCY3):c.2495+8C>T	ADCY3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3054875	NM_004036.5(ADCY3):c.2484T>C (p.Asn828=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 2232971	NM_004036.5(ADCY3):c.2440A>G (p.Met814Val)	ADCY3 (M814V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 495043	NM_004036.5(ADCY3):c.2433-1G>A	ADCY3	Single nucleotide variant (intron variant +1 more)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19	Grisk factor
Select item 1990446	NM_004036.5(ADCY3):c.2432+13G>A	ADCY3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005384	NM_004036.5(ADCY3):c.2432+11G>A	ADCY3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1531139	NM_004036.5(ADCY3):c.2430C>T (p.His810=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder +1 more	GLikely benign
Select item 3081573	NM_004036.5(ADCY3):c.2429A>G (p.His810Arg)	ADCY3 (H764R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3042689	NM_004036.5(ADCY3):c.2424G>A (p.Arg808=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 2764891	NM_004036.5(ADCY3):c.2423G>C (p.Arg808Pro)	ADCY3 (R567P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2629642	NM_004036.5(ADCY3):c.2423G>A (p.Arg808Gln)	ADCY3 (R567Q +3 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 2051272	NM_004036.5(ADCY3):c.2417G>A (p.Arg806His)	ADCY3 (R565H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3040109	NM_004036.5(ADCY3):c.2416C>T (p.Arg806Cys)	ADCY3 (R565C +3 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 3047118	NM_004036.5(ADCY3):c.2415G>A (p.Lys805=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 1647251	NM_004036.5(ADCY3):c.2406C>T (p.Tyr802=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder +1 more	GLikely benign
Select item 3018581	NM_004036.5(ADCY3):c.2397T>C (p.Phe799=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2634282	NM_004036.5(ADCY3):c.2392G>A (p.Val798Ile)	ADCY3 (V557I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3034916	NM_004036.5(ADCY3):c.2359G>A (p.Val787Met)	ADCY3 (V546M +3 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 3031935	NM_004036.5(ADCY3):c.2358C>T (p.Ala786=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 2634296	NM_004036.5(ADCY3):c.2347G>A (p.Val783Ile)	ADCY3 (V542I +3 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 3031901	NM_004036.5(ADCY3):c.2289C>T (p.Ile763=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 2632537	NM_004036.5(ADCY3):c.2249A>G (p.Asn750Ser)	ADCY3 (N509S +2 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 1541294	NM_004036.5(ADCY3):c.2226A>G (p.Glu742=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3057536	NM_004036.5(ADCY3):c.2214G>A (p.Thr738=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign

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