ClinVar for Gene (Select 124401) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3127013	NM_133450.4(ANKS3):c.913G>A (p.Glu305Lys)	ANKS3 (E176K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127012	NM_133450.4(ANKS3):c.863G>A (p.Arg288His)	ANKS3 (R159H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127011	NM_133450.4(ANKS3):c.844G>A (p.Gly282Ser)	ANKS3 (G109S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127010	NM_133450.4(ANKS3):c.785G>C (p.Gly262Ala)	ANKS3 (G155A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127009	NM_133450.4(ANKS3):c.758A>G (p.Gln253Arg)	ANKS3 (Q124R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127008	NM_133450.4(ANKS3):c.598C>G (p.His200Asp)	ANKS3 (H93D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127006	NM_133450.4(ANKS3):c.598C>A (p.His200Asn)	ANKS3 (H27N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127005	NM_133450.4(ANKS3):c.548T>A (p.Ile183Lys)	ANKS3 (I54K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127004	NM_133450.4(ANKS3):c.46C>T (p.Arg16Cys)	ANKS3 (R16C)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3127003	NM_133450.4(ANKS3):c.1927G>A (p.Glu643Lys)	ANKS3 (E470K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127002	NM_133450.4(ANKS3):c.1769C>G (p.Pro590Arg)	ANKS3 (P300R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127000	NM_133450.4(ANKS3):c.1691C>T (p.Ala564Val)	ANKS3 (A457V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126999	NM_133450.4(ANKS3):c.1687C>G (p.Leu563Val)	ANKS3 (L456V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126998	NM_133450.4(ANKS3):c.1651G>A (p.Glu551Lys)	ANKS3 (E378K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3126997	NM_133450.4(ANKS3):c.1574C>T (p.Thr525Met)	ANKS3 (T235M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3126996	NM_133450.4(ANKS3):c.1558G>A (p.Glu520Lys)	ANKS3 (E520K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126995	NM_133450.4(ANKS3):c.1232T>C (p.Phe411Ser)	ANKS3 (F282S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126994	NM_133450.4(ANKS3):c.1117G>A (p.Glu373Lys)	ANKS3 (E373K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033093	NM_133450.4(ANKS3):c.1745C>T (p.Ser582Leu)	ANKS3 (S292L +4 more)	Single nucleotide variant (missense variant +1 more)	ANKS3-related disorder	GLikely benign
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	ADCY9, ANKS3 +52 more	Copy number loss	not provided	GPathogenic
Select item 2684779	GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3	ALG1, ANKS3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2672614	NM_133450.4(ANKS3):c.1010-6C>T	ANKS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2646158	NM_133450.4(ANKS3):c.1230C>T (p.Gly410=)	ANKS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646157	NM_133450.4(ANKS3):c.1821C>T (p.Gly607=)	ANKS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2619326	NM_133450.4(ANKS3):c.718G>A (p.Glu240Lys)	ANKS3 (E133K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2613680	NM_133450.4(ANKS3):c.183T>A (p.Asp61Glu)	ANKS3 (D61E)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2613515	NM_133450.4(ANKS3):c.1141A>T (p.Ser381Cys)	ANKS3 (S274C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603877	NM_133450.4(ANKS3):c.1280C>T (p.Pro427Leu)	ANKS3 (P254L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602379	NM_133450.4(ANKS3):c.650T>C (p.Ile217Thr)	ANKS3 (I44T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2597850	NM_133450.4(ANKS3):c.1150C>T (p.Arg384Cys)	ANKS3 (R384C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597311	NM_133450.4(ANKS3):c.1798G>A (p.Val600Ile)	ANKS3 (V493I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554503	NM_133450.4(ANKS3):c.88G>T (p.Gly30Trp)	ANKS3 (G30W)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2553009	NM_133450.4(ANKS3):c.880C>T (p.Pro294Ser)	ANKS3 (P121S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537261	NM_133450.4(ANKS3):c.1736C>G (p.Ala579Gly)	ANKS3 (A406G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533892	NM_133450.4(ANKS3):c.1049G>A (p.Ser350Asn)	ANKS3 (S177N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529819	NM_133450.4(ANKS3):c.1861T>G (p.Ser621Ala)	ANKS3 (S331A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527544	NM_133450.4(ANKS3):c.586G>A (p.Asp196Asn)	ANKS3 (D67N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2523100	NM_133450.4(ANKS3):c.798C>G (p.His266Gln)	ANKS3 (H159Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2511803	NM_133450.4(ANKS3):c.1350C>G (p.Asp450Glu)	ANKS3 (D321E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496215	NM_133450.4(ANKS3):c.1834C>A (p.Leu612Met)	ANKS3 (L612M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492118	NM_133450.4(ANKS3):c.1769C>T (p.Pro590Leu)	ANKS3 (P483L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480622	NM_133450.4(ANKS3):c.1321A>G (p.Lys441Glu)	ANKS3 (K151E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471599	NM_133450.4(ANKS3):c.908G>A (p.Ser303Asn)	ANKS3 (S196N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468508	NM_133450.4(ANKS3):c.1790G>A (p.Gly597Asp)	ANKS3 (G424D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464443	NM_133450.4(ANKS3):c.919C>A (p.Pro307Thr)	ANKS3 (P200T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459981	NM_133450.4(ANKS3):c.1040C>T (p.Pro347Leu)	ANKS3 (P240L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459411	NM_133450.4(ANKS3):c.683T>C (p.Leu228Pro)	ANKS3 (L228P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	NUDT16L1, MEFV +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2408953	NM_133450.4(ANKS3):c.643A>T (p.Met215Leu)	ANKS3 (M108L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2402497	NM_133450.4(ANKS3):c.1886G>A (p.Arg629His)	ANKS3 (R339H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2402409	NM_133450.4(ANKS3):c.1552C>T (p.Arg518Cys)	ANKS3 (R411C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398829	NM_133450.4(ANKS3):c.935G>A (p.Gly312Asp)	ANKS3 (G22D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376734	NM_133450.4(ANKS3):c.265C>A (p.Leu89Ile)	ANKS3 (L89I)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2374426	NM_133450.4(ANKS3):c.1208G>A (p.Arg403His)	ANKS3 (R113H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372618	NM_133450.4(ANKS3):c.1292C>T (p.Ala431Val)	ANKS3 (A141V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370328	NM_133450.4(ANKS3):c.1115A>G (p.Asn372Ser)	ANKS3 (N199S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365658	NM_133450.4(ANKS3):c.58A>G (p.Met20Val)	ANKS3 (M20V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2357606	NM_133450.4(ANKS3):c.1645G>A (p.Ala549Thr)	ANKS3 (A259T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343814	NM_133450.4(ANKS3):c.911G>C (p.Gly304Ala)	ANKS3 (G131A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316031	NM_133450.4(ANKS3):c.1244C>A (p.Ser415Tyr)	ANKS3 (S286Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310334	NM_133450.4(ANKS3):c.857G>A (p.Arg286Gln)	ANKS3 (R113Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2298541	NM_133450.4(ANKS3):c.1436C>T (p.Thr479Met)	ANKS3 (T350M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293327	NM_133450.4(ANKS3):c.140A>G (p.Gln47Arg)	ANKS3 (Q47R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2288669	NM_133450.4(ANKS3):c.791G>A (p.Ser264Asn)	ANKS3 (S135N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2277245	NM_133450.4(ANKS3):c.1534G>A (p.Ala512Thr)	ANKS3 (A383T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266433	NM_133450.4(ANKS3):c.1843A>G (p.Met615Val)	ANKS3 (M325V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262286	NM_133450.4(ANKS3):c.1487T>C (p.Leu496Pro)	ANKS3 (L206P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249733	NM_133450.4(ANKS3):c.1801C>T (p.Pro601Ser)	ANKS3 (P311S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245101	NM_133450.4(ANKS3):c.163G>T (p.Val55Leu)	ANKS3 (V55L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2245056	NM_133450.4(ANKS3):c.1880G>A (p.Arg627His)	ANKS3 (R627H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222946	NM_133450.4(ANKS3):c.331A>G (p.Ser111Gly)	ANKS3 (S111G)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526484	GRCh37/hg19 16p13.3(chr16:4541805-5813911)	SEPTIN12, SMIM22 +18 more	Copy number gain	not specified	GUncertain significance
Select item 1252032	NM_133450.4(ANKS3):c.352G>A (p.Ala118Thr)	ANKS3 (A118T)	Single nucleotide variant (5 prime UTR variant +3 more)	Non-immune hydrops fetalis	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 831384	NC_000016.10:g.(?_3727698)_(4802591_?)dup	ADCY9, ANKS3 +21 more	Duplication	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 787722	NM_133450.4(ANKS3):c.502T>G (p.Cys168Gly)	ANKS3 (C39G +2 more)	Single nucleotide variant (missense variant +2 more)	ANKS3-related disorder +1 more	GLikely benign
Select item 785523	NM_133450.4(ANKS3):c.74G>A (p.Gly25Glu)	ANKS3 (G25E)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 775369	NM_133450.4(ANKS3):c.1131T>C (p.His377=)	ANKS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 775368	NM_133450.4(ANKS3):c.1755G>C (p.Val585=)	ANKS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 718366	NM_133450.4(ANKS3):c.42G>C (p.Leu14=)	ANKS3	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign/Likely benign
Select item 709310	NM_133450.4(ANKS3):c.984G>A (p.Glu328=)	ANKS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 685643	GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3	ADCY9, ALG1 +30 more	Copy number gain	not provided	GPathogenic
Select item 657383	NC_000016.10:g.(?_3727698)_(4802591_?)del	LOC125146383, LOC125146384 +66 more	Deletion	Rubinstein-Taybi syndrome	GPathogenic
Select item 599564	NM_133450.4(ANKS3):c.1960dup (p.Arg654fs)	ANKS3 (R525fs +4 more)	Duplication (frameshift variant +1 more)	Short stature	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443444	GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1	ADCY9, ALG1 +50 more	Copy number loss	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 395287	GRCh37/hg19 16p13.3(chr16:4740929-4950995)x1	ANKS3, DNAAF8 +9 more	Copy number loss	See cases	GUncertain significance
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic

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