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	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +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 3349991	NM_004036.5(ADCY3):c.3431C>A (p.Ser1144Tyr)	ADCY3, CENPO (S1098Y +4 more)	Single nucleotide variant (missense variant +2 more)	ADCY3-related disorder	GUncertain significance
Select item 3346917	NM_004036.5(ADCY3):c.3429C>A (p.Asn1143Lys)	ADCY3, CENPO (N1097K +4 more)	Single nucleotide variant (missense variant +2 more)	ADCY3-related disorder	GUncertain significance
Select item 3357334	NM_004036.5(ADCY3):c.3423G>A (p.Val1141=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
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 3352360	NM_004036.5(ADCY3):c.3398C>G (p.Ser1133Cys)	ADCY3, CENPO (S1087C +4 more)	Single nucleotide variant (missense variant +2 more)	ADCY3-related disorder	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	GBenign
Select item 3355765	NM_004036.5(ADCY3):c.3366G>A (p.Arg1122=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 3354649	NM_004036.5(ADCY3):c.3364C>T (p.Arg1122Trp)	ADCY3, CENPO (R1076W +4 more)	Single nucleotide variant (missense variant +2 more)	ADCY3-related disorder	GUncertain significance
Select item 495047	NM_004036.5(ADCY3):c.3348CTT[2] (p.Phe1118del)	ADCY3, CENPO (F1118del +4 more)	Microsatellite (inframe_deletion +2 more)	ADCY3-related disorder +1 more	GUncertain significance; risk 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 3353384	NM_004036.5(ADCY3):c.3325AAGGGG[3] (p.Gly1112_Glu1113insLysGly)	ADCY3, CENPO	Microsatellite (inframe_insertion +2 more)	ADCY3-related disorder	GUncertain significance
Select item 3348937	NM_004036.5(ADCY3):c.3335G>C (p.Gly1112Ala)	ADCY3, CENPO (G1066A +4 more)	Single nucleotide variant (missense variant +2 more)	ADCY3-related disorder	GUncertain significance
Select item 3347337	NM_004036.5(ADCY3):c.3329_3330del (p.Gly1110fs)	ADCY3, CENPO (G1064fs +4 more)	Deletion (frameshift variant +2 more)	ADCY3-related disorder	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 3353635	NM_004036.5(ADCY3):c.3307C>T (p.Arg1103Ter)	ADCY3, CENPO (R1057* +4 more)	Single nucleotide variant (nonsense +2 more)	ADCY3-related disorder	GUncertain significance
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 3354825	NM_004036.5(ADCY3):c.3306G>A (p.Arg1102=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 3357575	NM_004036.5(ADCY3):c.3303G>A (p.Val1101=)	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 3349774	NM_004036.5(ADCY3):c.3258A>G (p.Val1086=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +3 more)	ADCY3-related disorder	GLikely benign
Select item 3356639	NM_004036.5(ADCY3):c.3253-8C>T	ADCY3, CENPO	Single nucleotide variant (3 prime UTR variant +2 more)	ADCY3-related disorder	GLikely benign
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	GUncertain significance
Select item 3269394	NM_004036.5(ADCY3):c.3239T>C (p.Met1080Thr)	ADCY3, CENPO (M1034T +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3358145	NM_004036.5(ADCY3):c.3237C>T (p.Val1079=)	ADCY3, CENPO	Single nucleotide variant (non-coding transcript variant +2 more)	ADCY3-related disorder	GLikely benign
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 3349879	NM_004036.5(ADCY3):c.3171G>A (p.Arg1057=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 3345709	NM_004036.5(ADCY3):c.3169C>T (p.Arg1057Trp)	ADCY3, CENPO (R1011W +5 more)	Single nucleotide variant (missense variant +2 more)	ADCY3-related disorder	GUncertain significance
Select item 3346418	NM_004036.5(ADCY3):c.3152C>A (p.Ala1051Asp)	ADCY3, CENPO (A1005D +5 more)	Single nucleotide variant (missense variant +2 more)	ADCY3-related disorder	GUncertain significance
Select item 1634482	NM_004036.5(ADCY3):c.3141C>T (p.Gly1047=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3356696	NM_004036.5(ADCY3):c.3133_3134dup (p.Asn1045fs)	ADCY3, CENPO (N1045fs +5 more)	Duplication (frameshift variant +2 more)	ADCY3-related disorder	GLikely pathogenic
Select item 3349974	NM_004036.5(ADCY3):c.3128-8T>C	ADCY3, CENPO	Single nucleotide variant (3 prime UTR variant +2 more)	ADCY3-related disorder	GUncertain significance
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	GBenign/Likely benign
Select item 3351194	NM_004036.5(ADCY3):c.3079C>T (p.Leu1027Phe)	ADCY3, CENPO (L1027F +5 more)	Single nucleotide variant (missense variant +2 more)	ADCY3-related disorder	GUncertain significance
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 3350494	NM_004036.5(ADCY3):c.3060G>A (p.Ala1020=)	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 3356988	NM_004036.5(ADCY3):c.3023_3024dup (p.Arg1009fs)	ADCY3, CENPO (R1009fs +5 more)	Microsatellite (frameshift variant +2 more)	ADCY3-related disorder	GLikely pathogenic
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 3350686	NM_004036.5(ADCY3):c.3016G>A (p.Glu1006Lys)	ADCY3, CENPO (E1006K +5 more)	Single nucleotide variant (missense variant +2 more)	ADCY3-related disorder	GUncertain significance
Select item 3345386	NM_004036.5(ADCY3):c.3015C>A (p.Ser1005=)	ADCY3, CENPO	Single nucleotide variant (synonymous variant +2 more)	ADCY3-related disorder	GLikely benign
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 3344574	NM_004036.5(ADCY3):c.3014C>G (p.Ser1005Cys)	ADCY3, CENPO (S1005C +5 more)	Single nucleotide variant (missense variant +2 more)	ADCY3-related disorder	GUncertain significance
Select item 3350604	NM_004036.5(ADCY3):c.3004-3C>T	ADCY3, CENPO	Single nucleotide variant (3 prime UTR variant +2 more)	ADCY3-related disorder	GLikely benign
Select item 3349489	NM_004036.5(ADCY3):c.3004-24_3004-3del	ADCY3, CENPO	Deletion (3 prime UTR variant +2 more)	ADCY3-related disorder	GUncertain significance
Select item 3352627	NM_004036.5(ADCY3):c.3003+6T>G	ADCY3	Single nucleotide variant (intron variant)	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	GLikely benign
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 3349690	NM_004036.5(ADCY3):c.2971G>A (p.Val991Ile)	ADCY3 (V1013I +5 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	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 3347996	NM_004036.5(ADCY3):c.2945_2947dup (p.Met982_Ala983insVal)	ADCY3	Duplication (inframe_insertion)	ADCY3-related disorder	GUncertain significance
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 3356885	NM_004036.5(ADCY3):c.2905C>T (p.Arg969Trp)	ADCY3 (R728W +5 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3348002	NM_004036.5(ADCY3):c.2892C>G (p.Asp964Glu)	ADCY3 (D723E +5 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3348733	NM_004036.5(ADCY3):c.2885T>C (p.Leu962Pro)	ADCY3 (L721P +5 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
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 (intron 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 3358266	NM_004036.5(ADCY3):c.2849G>A (p.Arg950His)	ADCY3 (R709H +4 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 3358322	NM_004036.5(ADCY3):c.2823C>T (p.Ile941=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 3348972	NM_004036.5(ADCY3):c.2820C>T (p.Ser940=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
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 3345044	NM_004036.5(ADCY3):c.2775G>A (p.Met925Ile)	ADCY3 (M684I +4 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
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	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 3348396	NM_004036.5(ADCY3):c.2744A>G (p.Tyr915Cys)	ADCY3 (Y674C +4 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 3353994	NM_004036.5(ADCY3):c.2742G>A (p.Leu914=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 3356461	NM_004036.5(ADCY3):c.2737-7T>G	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
Select item 2240995	NM_004036.5(ADCY3):c.2723A>C (p.Lys908Thr)	ADCY3 (K862T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3357401	NM_004036.5(ADCY3):c.2704C>T (p.Arg902Cys)	ADCY3 (R661C +5 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3345533	NM_004036.5(ADCY3):c.2684T>A (p.Met895Lys)	ADCY3 (M654K +5 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance

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