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	MIR636, MIR6516 +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	AATK, ACTG1 +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)	not specified	GUncertain significance
Select item 2522647	NM_001080395.3(AATK):c.4111A>T (p.Ser1371Cys)	AATK (S1268C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147730	NM_001080395.3(AATK):c.4066G>T (p.Asp1356Tyr)	AATK (D1356Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207952	NM_001080395.3(AATK):c.4031C>T (p.Thr1344Met)	AATK (T1241M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310011	NM_001080395.3(AATK):c.4022C>G (p.Pro1341Arg)	AATK (P1341R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147684	NM_001080395.3(AATK):c.4013C>T (p.Thr1338Met)	AATK (T1338M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588852	NM_001080395.3(AATK):c.3952G>A (p.Asp1318Asn)	AATK (D1215N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486292	NM_001080395.3(AATK):c.3914C>T (p.Pro1305Leu)	AATK, LOC112533680 (P1305L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266129	NM_001080395.3(AATK):c.3882G>C (p.Glu1294Asp)	AATK, LOC112533680 (E1191D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147614	NM_001080395.3(AATK):c.3846G>T (p.Gln1282His)	AATK (Q1179H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549023	NM_001080395.3(AATK):c.3718G>A (p.Val1240Ile)	AATK (V1240I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375726	NM_001080395.3(AATK):c.3614G>A (p.Arg1205His)	AATK (R1205H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295050	NM_001080395.3(AATK):c.3611C>T (p.Ala1204Val)	AATK (A1204V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147556	NM_001080395.3(AATK):c.3583C>G (p.Pro1195Ala)	AATK (P1092A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257590	NM_001080395.3(AATK):c.3573G>A (p.Ala1191=)	AATK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3147534	NM_001080395.3(AATK):c.3565G>A (p.Glu1189Lys)	AATK (E1189K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147512	NM_001080395.3(AATK):c.3559A>G (p.Ser1187Gly)	AATK (S1084G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211557	NM_001080395.3(AATK):c.3516C>G (p.Asp1172Glu)	AATK (D1069E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232411	NM_001080395.3(AATK):c.3445G>A (p.Gly1149Ser)	AATK (G1046S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273266	NM_001080395.3(AATK):c.3407C>A (p.Pro1136Gln)	AATK (P1136Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326988	NM_001080395.3(AATK):c.3404G>A (p.Gly1135Asp)	AATK (G1032D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347932	NM_001080395.3(AATK):c.3395G>A (p.Arg1132Gln)	AATK (R1029Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403081	NM_001080395.3(AATK):c.3347A>T (p.Glu1116Val)	AATK (E1116V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266983	NM_001080395.3(AATK):c.3303C>G (p.Phe1101Leu)	AATK (F1101L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598715	NM_001080395.3(AATK):c.3257C>T (p.Pro1086Leu)	AATK (P1086L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276410	NM_001080395.3(AATK):c.3184C>G (p.Leu1062Val)	AATK (L959V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300217	NM_001080395.3(AATK):c.3157G>A (p.Gly1053Arg)	AATK (G950R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547714	NM_001080395.3(AATK):c.3127G>A (p.Val1043Ile)	AATK (V1043I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550656	NM_001080395.3(AATK):c.3092G>A (p.Gly1031Glu)	AATK (G928E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400770	NM_001080395.3(AATK):c.3064G>A (p.Gly1022Arg)	AATK (G919R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295538	NM_001080395.3(AATK):c.3061C>T (p.Pro1021Ser)	AATK (P918S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266810	NM_001080395.3(AATK):c.3059C>A (p.Ala1020Asp)	AATK (A917D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147099	NM_001080395.3(AATK):c.3056G>A (p.Arg1019Gln)	AATK (R916Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147070	NM_001080395.3(AATK):c.3023C>T (p.Thr1008Ile)	AATK (T905I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562843	NM_001080395.3(AATK):c.3010G>A (p.Glu1004Lys)	AATK (E1004K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477443	NM_001080395.3(AATK):c.2964G>C (p.Glu988Asp)	AATK (E988D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317170	NM_001080395.3(AATK):c.2947C>T (p.Leu983Phe)	AATK (L880F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360771	NM_001080395.3(AATK):c.2933G>A (p.Arg978Gln)	AATK (R875Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594041	NM_001080395.3(AATK):c.2900C>T (p.Ala967Val)	AATK (A864V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146893	NM_001080395.3(AATK):c.2891C>T (p.Ala964Val)	AATK (A964V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146863	NM_001080395.3(AATK):c.2890G>A (p.Ala964Thr)	AATK (A861T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299710	NM_001080395.3(AATK):c.2870G>C (p.Gly957Ala)	AATK (G854A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399118	NM_001080395.3(AATK):c.2861C>T (p.Ala954Val)	AATK (A851V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146798	NM_001080395.3(AATK):c.2765C>T (p.Pro922Leu)	AATK (P922L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227172	NM_001080395.3(AATK):c.2726C>T (p.Pro909Leu)	AATK (P909L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546641	NM_001080395.3(AATK):c.2705C>G (p.Ser902Cys)	AATK (S799C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527239	NM_001080395.3(AATK):c.2701G>A (p.Asp901Asn)	AATK (D901N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362302	NM_001080395.3(AATK):c.2657T>C (p.Val886Ala)	AATK (V783A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293105	NM_001080395.3(AATK):c.2632G>A (p.Gly878Ser)	AATK (G775S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309268	NM_001080395.3(AATK):c.2590G>C (p.Ala864Pro)	AATK (A761P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510565	NM_001080395.3(AATK):c.2562G>C (p.Glu854Asp)	AATK (E751D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146565	NM_001080395.3(AATK):c.2483C>T (p.Thr828Met)	AATK (T725M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235518	NM_001080395.3(AATK):c.2452G>A (p.Asp818Asn)	AATK (D715N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508483	NM_001080395.3(AATK):c.2432C>T (p.Ser811Leu)	AATK (S811L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266039	NM_001080395.3(AATK):c.2395G>A (p.Val799Ile)	AATK (V696I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146451	NM_001080395.3(AATK):c.2390C>T (p.Pro797Leu)	AATK (P694L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373418	NM_001080395.3(AATK):c.2383C>T (p.Pro795Ser)	AATK (P795S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146399	NM_001080395.3(AATK):c.2378G>A (p.Arg793His)	AATK (R690H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265842	NM_001080395.3(AATK):c.2377C>T (p.Arg793Cys)	AATK (R793C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146368	NM_001080395.3(AATK):c.2371G>A (p.Gly791Arg)	AATK (G791R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495712	NM_001080395.3(AATK):c.2327C>T (p.Pro776Leu)	AATK (P673L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2227093	NM_001080395.3(AATK):c.2272C>T (p.Pro758Ser)	AATK (P655S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367443	NM_001080395.3(AATK):c.2233C>A (p.Leu745Ile)	AATK (L642I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345195	NM_001080395.3(AATK):c.2230G>A (p.Gly744Ser)	AATK (G744S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2264946	NM_001080395.3(AATK):c.2141C>A (p.Thr714Asn)	AATK (T611N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265733	NM_001080395.3(AATK):c.2119G>A (p.Gly707Ser)	AATK (G707S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509649	NM_001080395.3(AATK):c.2089G>A (p.Asp697Asn)	AATK (D697N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472842	NM_001080395.3(AATK):c.2027G>T (p.Gly676Val)	AATK (G676V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217377	NM_001080395.3(AATK):c.2024G>A (p.Arg675His)	AATK (R572H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220389	NM_001080395.3(AATK):c.2015C>A (p.Ala672Asp)	AATK (A569D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282703	NM_001080395.3(AATK):c.2009G>T (p.Arg670Leu)	AATK (R670L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590835	NM_001080395.3(AATK):c.1963C>T (p.Pro655Ser)	AATK (P552S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513122	NM_001080395.3(AATK):c.1949G>A (p.Ser650Asn)	AATK (S650N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266496	NM_001080395.3(AATK):c.1925C>T (p.Pro642Leu)	AATK (P539L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266219	NM_001080395.3(AATK):c.1918G>C (p.Glu640Gln)	AATK (E640Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513943	NM_001080395.3(AATK):c.1891G>A (p.Val631Met)	AATK (V528M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145920	NM_001080395.3(AATK):c.1865G>A (p.Gly622Glu)	AATK (G519E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386494	NM_001080395.3(AATK):c.1841C>T (p.Ala614Val)	AATK (A511V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280458	NM_001080395.3(AATK):c.1820C>T (p.Ser607Leu)	AATK (S504L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239712	NM_001080395.3(AATK):c.1736G>T (p.Gly579Val)	AATK (G579V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547410	NM_001080395.3(AATK):c.1712C>T (p.Ser571Leu)	AATK (S468L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145757	NM_001080395.3(AATK):c.1693G>C (p.Asp565His)	AATK (D462H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467831	NM_001080395.3(AATK):c.1684G>T (p.Asp562Tyr)	AATK (D459Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145691	NM_001080395.3(AATK):c.1657A>G (p.Ser553Gly)	AATK (S553G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466773	NM_001080395.3(AATK):c.1642G>A (p.Ala548Thr)	AATK (A445T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266399	NM_001080395.3(AATK):c.1613C>T (p.Ala538Val)	AATK (A538V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266940	NM_001080395.3(AATK):c.1607A>G (p.Glu536Gly)	AATK (E433G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298368	NM_001080395.3(AATK):c.1585G>A (p.Glu529Lys)	AATK (E529K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467877	NM_001080395.3(AATK):c.1561G>T (p.Ala521Ser)	AATK (A521S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530816	NM_001080395.3(AATK):c.1550C>T (p.Pro517Leu)	AATK (P517L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329232	NM_001080395.3(AATK):c.1528G>A (p.Gly510Ser)	AATK (G407S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266633	NM_001080395.3(AATK):c.1520C>A (p.Ala507Asp)	AATK (A404D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266593	NM_001080395.3(AATK):c.1519G>A (p.Ala507Thr)	AATK (A507T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398678	NM_001080395.3(AATK):c.1511A>C (p.Glu504Ala)	AATK (E504A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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