ClinVar for Gene (Select 9625) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267078	NM_001080395.3(AATK):c.1022A>T (p.His341Leu)	AATK (H341L +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 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 3266899	NM_001080395.3(AATK):c.382C>G (p.Leu128Val)	AATK (L25V +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 3266719	NM_001080395.3(AATK):c.587C>T (p.Thr196Met)	AATK (T196M +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 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 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 3266307	NM_001080395.3(AATK):c.490G>A (p.Val164Met)	AATK (V61M +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 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 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 3265946	NM_001080395.3(AATK):c.251C>A (p.Thr84Lys)	AATK (T84K)	Single nucleotide variant (missense variant +1 more)	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 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 3257590	NM_001080395.3(AATK):c.3573G>A (p.Ala1191=)	AATK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3147910	NM_001080395.3(AATK):c.652C>T (p.Arg218Trp)	AATK (R115W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147888	NM_001080395.3(AATK):c.62C>T (p.Ala21Val)	AATK (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3147665	NM_001080395.3(AATK):c.394G>A (p.Gly132Ser)	AATK (G132S +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 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 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 3147202	NM_001080395.3(AATK):c.322C>T (p.Pro108Ser)	AATK (P5S +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 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 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 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 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 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 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 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 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 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 3145402	NM_001080395.3(AATK):c.1456G>A (p.Gly486Ser)	AATK (G486S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145209	NM_001080395.3(AATK):c.1325C>T (p.Ala442Val)	AATK (A339V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145133	NM_001080395.3(AATK):c.1255C>T (p.Pro419Ser)	AATK (P316S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145040	NM_001080395.3(AATK):c.1183C>A (p.Leu395Met)	AATK (L395M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144989	NM_001080395.3(AATK):c.1016C>A (p.Pro339His)	AATK (P236H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144916	NM_001080395.3(AATK):c.1004C>A (p.Thr335Lys)	AATK (T232K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076446	NM_001080395.3(AATK):c.934G>A (p.Val312Met)	AATK (V209M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076384	NM_001080395.3(AATK):c.85C>A (p.Pro29Thr)	AATK (P29T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076333	NM_001080395.3(AATK):c.799G>A (p.Val267Met)	AATK (V164M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076313	NM_001080395.3(AATK):c.736C>T (p.Arg246Cys)	AATK (R246C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076285	NM_001080395.3(AATK):c.676G>A (p.Asp226Asn)	AATK (D123N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2648433	NM_001080395.3(AATK):c.933C>T (p.Val311=)	AATK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609584	NM_001080395.3(AATK):c.1043C>T (p.Ala348Val)	AATK (A245V +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 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 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 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 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 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 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 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 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 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 2539922	NM_001080395.3(AATK):c.548G>A (p.Ser183Asn)	AATK (S80N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535508	NM_001080395.3(AATK):c.1286G>A (p.Gly429Asp)	AATK (G326D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531650	NM_001080395.3(AATK):c.1258G>A (p.Gly420Ser)	AATK (G317S +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 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 2526332	NM_001080395.3(AATK):c.854T>C (p.Val285Ala)	AATK (V182A +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 2514135	NM_001080395.3(AATK):c.667A>G (p.Met223Val)	AATK (M223V +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 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 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 2510430	NM_001080395.3(AATK):c.265G>A (p.Gly89Arg)	AATK (G89R)	Single nucleotide variant (missense variant +1 more)	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 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 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 2487195	NM_001080395.3(AATK):c.451G>A (p.Ala151Thr)	AATK (A151T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 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 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 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 2405697	NM_001080395.3(AATK):c.1337C>T (p.Ser446Phe)	AATK (S343F +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 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 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 2398678	NM_001080395.3(AATK):c.1511A>C (p.Glu504Ala)	AATK (E504A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391898	NM_001080395.3(AATK):c.659C>T (p.Ala220Val)	AATK (A117V +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 2379167	NM_001080395.3(AATK):c.8C>G (p.Ser3Trp)	AATK, PVALEF (S3W)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 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 2347932	NM_001080395.3(AATK):c.3395G>A (p.Arg1132Gln)	AATK (R1029Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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