ATAD2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +315 more	Copy number loss	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 144138	GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3	ANXA13, ATAD2 +286 more	Copy number gain	See cases	GPathogenic
Select item 57126	GRCh38/hg38 8q24.13(chr8:122751607-123361569)x3	ATAD2, C8orf76 +51 more	Copy number gain	See cases	GPathogenic
Select item 3130658	NM_014109.4(ATAD2):c.4135A>G (p.Met1379Val)	ATAD2 (M1379V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603164	NM_014109.4(ATAD2):c.4094G>A (p.Arg1365Gln)	ATAD2 (R1365Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2519447	NM_014109.4(ATAD2):c.4019T>C (p.Val1340Ala)	ATAD2 (V1340A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392215	NM_014109.4(ATAD2):c.4006C>A (p.Leu1336Ile)	ATAD2 (L1336I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319673	NM_014109.4(ATAD2):c.3909G>T (p.Gln1303His)	ATAD2 (Q1303H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519298	NM_014109.4(ATAD2):c.3837A>G (p.Ile1279Met)	ATAD2 (I1279M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481018	NM_014109.4(ATAD2):c.3835A>T (p.Ile1279Leu)	ATAD2 (I1279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542407	NM_014109.4(ATAD2):c.3656G>T (p.Gly1219Val)	ATAD2 (G1219V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130655	NM_014109.4(ATAD2):c.3621C>G (p.Asp1207Glu)	ATAD2 (D1207E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606288	NM_014109.4(ATAD2):c.3593T>C (p.Ile1198Thr)	ATAD2 (I1198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130653	NM_014109.4(ATAD2):c.3584A>T (p.Asp1195Val)	ATAD2 (D1195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393683	NM_014109.4(ATAD2):c.3581T>C (p.Ile1194Thr)	ATAD2 (I1194T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130652	NM_014109.4(ATAD2):c.3563A>G (p.Asp1188Gly)	ATAD2 (D1188G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547285	NM_014109.4(ATAD2):c.3539G>A (p.Arg1180Gln)	ATAD2 (R1180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622366	NM_014109.4(ATAD2):c.3500G>A (p.Arg1167His)	ATAD2 (R1167H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130651	NM_014109.4(ATAD2):c.3483G>T (p.Gln1161His)	ATAD2 (Q1161H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130650	NM_014109.4(ATAD2):c.3464C>T (p.Ala1155Val)	ATAD2 (A1155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319663	NM_014109.4(ATAD2):c.3449C>T (p.Pro1150Leu)	ATAD2 (P1150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130649	NM_014109.4(ATAD2):c.3409A>G (p.Lys1137Glu)	ATAD2 (K1137E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372132	NM_014109.4(ATAD2):c.3407A>G (p.Asp1136Gly)	ATAD2 (D1136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217865	NM_014109.4(ATAD2):c.3312T>G (p.Ile1104Met)	ATAD2 (I1104M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130648	NM_014109.4(ATAD2):c.3250A>G (p.Thr1084Ala)	ATAD2 (T1084A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276416	NM_014109.4(ATAD2):c.2923G>A (p.Val975Met)	ATAD2 (V975M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319694	NM_014109.4(ATAD2):c.2868G>T (p.Leu956Phe)	ATAD2 (L956F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658790	NM_014109.4(ATAD2):c.2855-8A>G	ATAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2533793	NM_014109.4(ATAD2):c.2834C>G (p.Pro945Arg)	ATAD2 (P945R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130647	NM_014109.4(ATAD2):c.2798T>A (p.Phe933Tyr)	ATAD2 (F933Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305340	NM_014109.4(ATAD2):c.2786G>A (p.Arg929Gln)	ATAD2 (R929Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383924	NM_014109.4(ATAD2):c.2738G>A (p.Arg913His)	ATAD2 (R913H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2249603	NM_014109.4(ATAD2):c.2719G>T (p.Val907Leu)	ATAD2 (V907L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319654	NM_014109.4(ATAD2):c.2704G>A (p.Ala902Thr)	ATAD2 (A902T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323793	NM_014109.4(ATAD2):c.2609G>A (p.Gly870Glu)	ATAD2 (G870E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255200	NM_014109.4(ATAD2):c.2504C>T (p.Thr835Ile)	ATAD2 (T835I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277247	NM_014109.4(ATAD2):c.2336A>G (p.His779Arg)	ATAD2 (H779R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130645	NM_014109.4(ATAD2):c.2311G>C (p.Ala771Pro)	ATAD2 (A771P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520142	NM_014109.4(ATAD2):c.2303C>G (p.Ser768Cys)	ATAD2 (S768C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130644	NM_014109.4(ATAD2):c.2290T>C (p.Ser764Pro)	ATAD2 (S764P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130643	NM_014109.4(ATAD2):c.2285G>T (p.Gly762Val)	ATAD2 (G762V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549652	NM_014109.4(ATAD2):c.2219C>A (p.Ser740Tyr)	ATAD2 (S740Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130642	NM_014109.4(ATAD2):c.2213A>G (p.Asp738Gly)	ATAD2 (D738G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319643	NM_014109.4(ATAD2):c.2057T>A (p.Met686Lys)	ATAD2 (M686K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130640	NM_014109.4(ATAD2):c.1960C>T (p.Arg654Cys)	ATAD2 (R654C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377310	NM_014109.4(ATAD2):c.1931C>G (p.Ala644Gly)	ATAD2 (A644G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309525	NM_014109.4(ATAD2):c.1822C>G (p.Leu608Val)	ATAD2 (L608V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319699	NM_014109.4(ATAD2):c.1783C>A (p.Leu595Ile)	ATAD2 (L595I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130639	NM_014109.4(ATAD2):c.1738A>C (p.Ile580Leu)	ATAD2 (I580L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570411	NM_014109.4(ATAD2):c.1651A>G (p.Ile551Val)	ATAD2 (I551V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252610	NM_014109.4(ATAD2):c.1541G>A (p.Arg514Gln)	ATAD2 (R514Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130638	NM_014109.4(ATAD2):c.1496C>G (p.Ala499Gly)	ATAD2 (A499G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519656	NM_014109.4(ATAD2):c.1460G>C (p.Gly487Ala)	ATAD2 (G487A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371262	NM_014109.4(ATAD2):c.1457A>G (p.Gln486Arg)	ATAD2 (Q486R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130637	NM_014109.4(ATAD2):c.1154A>G (p.Asn385Ser)	ATAD2 (N385S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335483	NM_014109.4(ATAD2):c.1139G>A (p.Arg380His)	ATAD2 (R380H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483874	NM_014109.4(ATAD2):c.1108C>G (p.Gln370Glu)	ATAD2 (Q370E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130636	NM_014109.4(ATAD2):c.1040G>A (p.Arg347Gln)	ATAD2 (R347Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130660	NM_014109.4(ATAD2):c.971G>A (p.Gly324Asp)	ATAD2 (G324D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339465	NM_014109.4(ATAD2):c.837T>A (p.Asp279Glu)	ATAD2 (D279E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2658791	NM_014109.4(ATAD2):c.810TGA[11] (p.Asp277_Glu278insAspAspAsp)	ATAD2	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2308579	NM_014109.4(ATAD2):c.834A>T (p.Glu278Asp)	ATAD2 (E278D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319685	NM_014109.4(ATAD2):c.829G>T (p.Asp277Tyr)	ATAD2 (D277Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210578	NM_014109.4(ATAD2):c.823G>A (p.Asp275Asn)	ATAD2 (D275N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411774	NM_014109.4(ATAD2):c.821A>T (p.Asp274Val)	ATAD2 (D274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658792	NM_014109.4(ATAD2):c.808G>A (p.Asp270Asn)	ATAD2 (D270N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3130659	NM_014109.4(ATAD2):c.798T>G (p.Asp266Glu)	ATAD2 (D266E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2273347	NM_014109.4(ATAD2):c.766G>A (p.Asp256Asn)	ATAD2 (D256N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320421	NM_014109.4(ATAD2):c.692A>G (p.Asp231Gly)	ATAD2 (D231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534936	NM_014109.4(ATAD2):c.599G>T (p.Arg200Ile)	ATAD2 (R200I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206200	NM_014109.4(ATAD2):c.593G>A (p.Arg198Gln)	ATAD2 (R198Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266360	NM_014109.4(ATAD2):c.512T>C (p.Met171Thr)	ATAD2 (M171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528359	NM_014109.4(ATAD2):c.436C>G (p.His146Asp)	ATAD2 (H146D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130657	NM_014109.4(ATAD2):c.392G>A (p.Arg131Gln)	ATAD2 (R131Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130656	NM_014109.4(ATAD2):c.379A>G (p.Ile127Val)	ATAD2 (I127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493608	NM_014109.4(ATAD2):c.301A>G (p.Asn101Asp)	ATAD2 (N101D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349512	NM_014109.4(ATAD2):c.274A>G (p.Asn92Asp)	ATAD2 (N92D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130646	NM_014109.4(ATAD2):c.242C>T (p.Ala81Val)	ATAD2 (A81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263848	NM_014109.4(ATAD2):c.70C>G (p.Leu24Val)	ATAD2 (L24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063053	GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1	ADCY8, ANXA13 +51 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic

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