ClinVar for Gene (Select 109) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 276

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3081615	NM_004036.5(ADCY3):c.341G>T (p.Gly114Val)	ADCY3 (G114V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 3081595	NM_004036.5(ADCY3):c.322C>T (p.Leu108Phe)	ADCY3 (L108F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 3081559	NM_004036.5(ADCY3):c.2005A>G (p.Ile669Val)	ADCY3 (I428V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3081552	NM_004036.5(ADCY3):c.1961A>G (p.Asp654Gly)	ADCY3 (D676G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3081534	NM_004036.5(ADCY3):c.1890G>T (p.Lys630Asn)	ADCY3 (K389N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3081503	NM_004036.5(ADCY3):c.1586T>C (p.Ile529Thr)	ADCY3 (I529T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075983	NM_004036.5(ADCY3):c.2108G>A (p.Trp703Ter)	ADCY3 (W462* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 3060327	NM_004036.5(ADCY3):c.528C>G (p.Val176=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
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 3059126	NM_004036.5(ADCY3):c.2967C>T (p.Pro989=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3058061	NM_004036.5(ADCY3):c.253G>A (p.Ala85Thr)	ADCY3 (A85T)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3057943	NM_004036.5(ADCY3):c.1356-19CT[6]	ADCY3	Microsatellite (intron variant)	ADCY3-related disorder	GLikely benign
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
Select item 3055498	NM_004036.5(ADCY3):c.1658C>T (p.Ala553Val)	ADCY3 (A312V +2 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GLikely benign
Select item 3055227	NM_004036.5(ADCY3):c.969C>T (p.Ala323=)	ADCY3	Single nucleotide variant (synonymous variant)	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 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 3054694	NM_004036.5(ADCY3):c.1773C>T (p.Asn591=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	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 3053734	NM_004036.5(ADCY3):c.2118C>T (p.Asn706=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3053685	NM_004036.5(ADCY3):c.1665C>G (p.Ala555=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3053098	NM_004036.5(ADCY3):c.1086G>A (p.Arg362=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3052930	NM_004036.5(ADCY3):c.1805+7G>A	ADCY3	Single nucleotide variant (intron 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 3051493	NM_004036.5(ADCY3):c.624C>T (p.Thr208=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3051321	NM_004036.5(ADCY3):c.557G>A (p.Ser186Asn)	ADCY3 (S186N)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GLikely benign
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 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 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 3047885	NM_004036.5(ADCY3):c.1257C>T (p.Thr419=)	ADCY3	Single nucleotide variant (synonymous variant)	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 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 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 3046696	NM_004036.5(ADCY3):c.705C>T (p.Cys235=)	ADCY3	Single nucleotide variant (synonymous variant +1 more)	ADCY3-related disorder	GLikely benign
Select item 3046500	NM_004036.5(ADCY3):c.1662+9A>G	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
Select item 3045884	NM_004036.5(ADCY3):c.1827C>T (p.Phe609=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3045386	NM_004036.5(ADCY3):c.1722C>T (p.Asp574=)	ADCY3	Single nucleotide variant (synonymous variant)	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 3045276	NM_004036.5(ADCY3):c.927C>G (p.Thr309=)	ADCY3	Single nucleotide variant (synonymous variant)	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 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 3043859	NM_004036.5(ADCY3):c.1923C>T (p.Val641=)	ADCY3	Single nucleotide variant (synonymous variant)	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 3043423	NM_004036.5(ADCY3):c.783G>A (p.Ser261=)	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 3043077	NM_004036.5(ADCY3):c.141G>C (p.Leu47=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
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 3042644	NM_004036.5(ADCY3):c.1196C>T (p.Ser399Leu)	ADCY3 (S158L +1 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3042571	NM_004036.5(ADCY3):c.1875G>A (p.Ser625=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3042488	NM_004036.5(ADCY3):c.2079C>G (p.Ala693=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
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 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 3038506	NM_004036.5(ADCY3):c.2949G>A (p.Ala983=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3037634	NM_004036.5(ADCY3):c.1407T>G (p.Asp469Glu)	ADCY3 (D228E +2 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3037114	NM_004036.5(ADCY3):c.1251G>A (p.Thr417=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3037079	NM_004036.5(ADCY3):c.1152C>T (p.Ala384=)	ADCY3	Single nucleotide variant (synonymous variant)	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 3036590	NM_004036.5(ADCY3):c.1663-5C>T	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
Select item 3036472	NM_004036.5(ADCY3):c.1805+6C>T	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
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 3036259	NM_004036.5(ADCY3):c.1355+9C>T	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
Select item 3036110	NM_004036.5(ADCY3):c.945C>T (p.His315=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3036011	NM_004036.5(ADCY3):c.126C>T (p.Asn42=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3035888	NM_004036.5(ADCY3):c.2201C>A (p.Pro734His)	ADCY3 (P493H +2 more)	Single nucleotide variant (missense variant +1 more)	ADCY3-related disorder	GUncertain significance
Select item 3035583	NM_004036.5(ADCY3):c.438C>T (p.Leu146=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
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 3034598	NM_004036.5(ADCY3):c.480G>A (p.Ala160=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3034110	NM_004036.5(ADCY3):c.1533G>A (p.Ser511=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	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 3033748	NM_004036.5(ADCY3):c.612C>G (p.Val204=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3033524	NM_004036.5(ADCY3):c.956+7C>T	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
Select item 3033265	NM_004036.5(ADCY3):c.1206G>A (p.Arg402=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3032792	NM_004036.5(ADCY3):c.1665C>T (p.Ala555=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3032688	NM_004036.5(ADCY3):c.2577+10G>A	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
Select item 3032268	NM_004036.5(ADCY3):c.1362G>C (p.Val454=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
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 3032012	NM_004036.5(ADCY3):c.1645G>A (p.Glu549Lys)	ADCY3 (E308K +2 more)	Single nucleotide variant (missense variant)	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 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 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 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 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 3030922	NM_004036.5(ADCY3):c.1077C>T (p.His359=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3030507	NM_004036.5(ADCY3):c.1635G>A (p.Ser545=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3030504	NM_004036.5(ADCY3):c.444C>A (p.Thr148=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
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 3030437	NM_004036.5(ADCY3):c.1300G>A (p.Val434Met)	ADCY3 (V193M +1 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3029797	NM_004036.5(ADCY3):c.237G>C (p.Leu79=)	ADCY3	Single nucleotide variant (synonymous variant)	ADCY3-related disorder	GLikely benign
Select item 3029650	NM_004036.5(ADCY3):c.2055+7G>A	ADCY3	Single nucleotide variant (intron variant)	ADCY3-related disorder	GLikely benign
Select item 3029489	NM_004036.5(ADCY3):c.2071C>A (p.Leu691Ile)	ADCY3 (L450I +2 more)	Single nucleotide variant (missense variant)	ADCY3-related disorder	GUncertain significance
Select item 3020376	NM_004036.5(ADCY3):c.825+12G>A	ADCY3	Single nucleotide variant (intron variant)	not provided	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

<< First< Prev

Page of 3