AATK[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	LOC126862671, LOC126862672 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 2297979	NM_001080395.3(AATK):c.4120G>T (p.Ala1374Ser)	AATK (A1271S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522647	NM_001080395.3(AATK):c.4111A>T (p.Ser1371Cys)	AATK (S1268C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2207952	NM_001080395.3(AATK):c.4031C>T (p.Thr1344Met)	AATK (T1241M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310011	NM_001080395.3(AATK):c.4022C>G (p.Pro1341Arg)	AATK (P1341R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588852	NM_001080395.3(AATK):c.3952G>A (p.Asp1318Asn)	AATK (D1215N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486292	NM_001080395.3(AATK):c.3914C>T (p.Pro1305Leu)	AATK, LOC112533680 (P1305L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549023	NM_001080395.3(AATK):c.3718G>A (p.Val1240Ile)	AATK (V1240I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375726	NM_001080395.3(AATK):c.3614G>A (p.Arg1205His)	AATK (R1205H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295050	NM_001080395.3(AATK):c.3611C>T (p.Ala1204Val)	AATK (A1204V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211557	NM_001080395.3(AATK):c.3516C>G (p.Asp1172Glu)	AATK (D1069E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232411	NM_001080395.3(AATK):c.3445G>A (p.Gly1149Ser)	AATK (G1046S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273266	NM_001080395.3(AATK):c.3407C>A (p.Pro1136Gln)	AATK (P1136Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326988	NM_001080395.3(AATK):c.3404G>A (p.Gly1135Asp)	AATK (G1032D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347932	NM_001080395.3(AATK):c.3395G>A (p.Arg1132Gln)	AATK (R1029Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403081	NM_001080395.3(AATK):c.3347A>T (p.Glu1116Val)	AATK (E1116V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598715	NM_001080395.3(AATK):c.3257C>T (p.Pro1086Leu)	AATK (P1086L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276410	NM_001080395.3(AATK):c.3184C>G (p.Leu1062Val)	AATK (L959V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300217	NM_001080395.3(AATK):c.3157G>A (p.Gly1053Arg)	AATK (G950R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2547714	NM_001080395.3(AATK):c.3127G>A (p.Val1043Ile)	AATK (V1043I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550656	NM_001080395.3(AATK):c.3092G>A (p.Gly1031Glu)	AATK (G928E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400770	NM_001080395.3(AATK):c.3064G>A (p.Gly1022Arg)	AATK (G919R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295538	NM_001080395.3(AATK):c.3061C>T (p.Pro1021Ser)	AATK (P918S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562843	NM_001080395.3(AATK):c.3010G>A (p.Glu1004Lys)	AATK (E1004K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477443	NM_001080395.3(AATK):c.2964G>C (p.Glu988Asp)	AATK (E988D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317170	NM_001080395.3(AATK):c.2947C>T (p.Leu983Phe)	AATK (L880F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360771	NM_001080395.3(AATK):c.2933G>A (p.Arg978Gln)	AATK (R875Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2594041	NM_001080395.3(AATK):c.2900C>T (p.Ala967Val)	AATK (A864V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299710	NM_001080395.3(AATK):c.2870G>C (p.Gly957Ala)	AATK (G854A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399118	NM_001080395.3(AATK):c.2861C>T (p.Ala954Val)	AATK (A851V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227172	NM_001080395.3(AATK):c.2726C>T (p.Pro909Leu)	AATK (P909L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546641	NM_001080395.3(AATK):c.2705C>G (p.Ser902Cys)	AATK (S799C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527239	NM_001080395.3(AATK):c.2701G>A (p.Asp901Asn)	AATK (D901N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362302	NM_001080395.3(AATK):c.2657T>C (p.Val886Ala)	AATK (V783A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293105	NM_001080395.3(AATK):c.2632G>A (p.Gly878Ser)	AATK (G775S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309268	NM_001080395.3(AATK):c.2590G>C (p.Ala864Pro)	AATK (A761P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510565	NM_001080395.3(AATK):c.2562G>C (p.Glu854Asp)	AATK (E751D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235518	NM_001080395.3(AATK):c.2452G>A (p.Asp818Asn)	AATK (D715N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508483	NM_001080395.3(AATK):c.2432C>T (p.Ser811Leu)	AATK (S811L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373418	NM_001080395.3(AATK):c.2383C>T (p.Pro795Ser)	AATK (P795S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2495712	NM_001080395.3(AATK):c.2327C>T (p.Pro776Leu)	AATK (P673L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2227093	NM_001080395.3(AATK):c.2272C>T (p.Pro758Ser)	AATK (P655S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367443	NM_001080395.3(AATK):c.2233C>A (p.Leu745Ile)	AATK (L642I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345195	NM_001080395.3(AATK):c.2230G>A (p.Gly744Ser)	AATK (G744S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2264946	NM_001080395.3(AATK):c.2141C>A (p.Thr714Asn)	AATK (T611N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509649	NM_001080395.3(AATK):c.2089G>A (p.Asp697Asn)	AATK (D697N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472842	NM_001080395.3(AATK):c.2027G>T (p.Gly676Val)	AATK (G676V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217377	NM_001080395.3(AATK):c.2024G>A (p.Arg675His)	AATK (R572H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2220389	NM_001080395.3(AATK):c.2015C>A (p.Ala672Asp)	AATK (A569D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282703	NM_001080395.3(AATK):c.2009G>T (p.Arg670Leu)	AATK (R670L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590835	NM_001080395.3(AATK):c.1963C>T (p.Pro655Ser)	AATK (P552S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513122	NM_001080395.3(AATK):c.1949G>A (p.Ser650Asn)	AATK (S650N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513943	NM_001080395.3(AATK):c.1891G>A (p.Val631Met)	AATK (V528M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386494	NM_001080395.3(AATK):c.1841C>T (p.Ala614Val)	AATK (A511V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280458	NM_001080395.3(AATK):c.1820C>T (p.Ser607Leu)	AATK (S504L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239712	NM_001080395.3(AATK):c.1736G>T (p.Gly579Val)	AATK (G579V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547410	NM_001080395.3(AATK):c.1712C>T (p.Ser571Leu)	AATK (S468L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467831	NM_001080395.3(AATK):c.1684G>T (p.Asp562Tyr)	AATK (D459Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466773	NM_001080395.3(AATK):c.1642G>A (p.Ala548Thr)	AATK (A445T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298368	NM_001080395.3(AATK):c.1585G>A (p.Glu529Lys)	AATK (E529K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467877	NM_001080395.3(AATK):c.1561G>T (p.Ala521Ser)	AATK (A521S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530816	NM_001080395.3(AATK):c.1550C>T (p.Pro517Leu)	AATK (P517L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329232	NM_001080395.3(AATK):c.1528G>A (p.Gly510Ser)	AATK (G407S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398678	NM_001080395.3(AATK):c.1511A>C (p.Glu504Ala)	AATK (E504A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208174	NM_001080395.3(AATK):c.1501C>T (p.Arg501Cys)	AATK (R398C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211022	NM_001080395.3(AATK):c.1462G>C (p.Glu488Gln)	AATK (E385Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219596	NM_001080395.3(AATK):c.1460C>T (p.Ala487Val)	AATK (A384V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328981	NM_001080395.3(AATK):c.1418G>A (p.Arg473Gln)	AATK (R473Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300743	NM_001080395.3(AATK):c.1384G>A (p.Gly462Ser)	AATK (G359S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270701	NM_001080395.3(AATK):c.1379C>G (p.Ala460Gly)	AATK (A460G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288666	NM_001080395.3(AATK):c.1366G>A (p.Asp456Asn)	AATK (D456N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405697	NM_001080395.3(AATK):c.1337C>T (p.Ser446Phe)	AATK (S343F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535508	NM_001080395.3(AATK):c.1286G>A (p.Gly429Asp)	AATK (G326D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531650	NM_001080395.3(AATK):c.1258G>A (p.Gly420Ser)	AATK (G317S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345437	NM_001080395.3(AATK):c.1201A>C (p.Lys401Gln)	AATK (K298Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609584	NM_001080395.3(AATK):c.1043C>T (p.Ala348Val)	AATK (A245V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269285	NM_001080395.3(AATK):c.1004C>T (p.Thr335Met)	AATK (T335M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648433	NM_001080395.3(AATK):c.933C>T (p.Val311=)	AATK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2526332	NM_001080395.3(AATK):c.854T>C (p.Val285Ala)	AATK (V182A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514135	NM_001080395.3(AATK):c.667A>G (p.Met223Val)	AATK (M223V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391898	NM_001080395.3(AATK):c.659C>T (p.Ala220Val)	AATK (A117V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207013	NM_001080395.3(AATK):c.577G>A (p.Ala193Thr)	AATK (A193T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215789	NM_001080395.3(AATK):c.549C>G (p.Ser183Arg)	AATK (S183R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539922	NM_001080395.3(AATK):c.548G>A (p.Ser183Asn)	AATK (S80N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487195	NM_001080395.3(AATK):c.451G>A (p.Ala151Thr)	AATK (A151T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2223070	NM_001080395.3(AATK):c.335T>C (p.Val112Ala)	AATK (V9A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346689	NM_001080395.3(AATK):c.328C>T (p.Arg110Cys)	AATK (R7C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510430	NM_001080395.3(AATK):c.265G>A (p.Gly89Arg)	AATK (G89R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347102	NM_001080395.3(AATK):c.245C>T (p.Pro82Leu)	AATK (P82L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276119	NM_001080395.3(AATK):c.196G>A (p.Glu66Lys)	AATK (E66K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249031	NM_001080395.3(AATK):c.97G>A (p.Ala33Thr)	AATK (A33T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219087	NM_001080395.3(AATK):c.65C>T (p.Pro22Leu)	AATK (P22L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 154635	GRCh38/hg38 17q25.3(chr17:81145383-81251829)x3	AATK, CEP131 +12 more	Copy number gain	See cases	GBenign
Select item 2379167	NM_001080395.3(AATK):c.8C>G (p.Ser3Trp)	AATK, PVALEF (S3W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic

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