Pak1 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for All species
(View Results for all Objects and Ontologies)

153 records found for search term Pak1

Refine Term:

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
155924009	CV2217779	single nucleotide variant	NM_002576.5(PAK1):c.190+3A>G	Inborn genetic diseases [RCV002683255]	likely benign	11	77392328	77392328	Human	1	name
243055085	CV2408505	single nucleotide variant	NM_002576.5(PAK1):c.478-3C>A	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV003131875]	uncertain significance	11	77359020	77359020	Human	1	name
408389721	CV3524754	single nucleotide variant	NM_002576.5(PAK1):c.772+1G>C	not provided [RCV004769649]	uncertain significance	11	77355667	77355667	Human		name
150477742	CV1272092	single nucleotide variant	NM_002576.5(PAK1):c.1116+8C>G	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV001788801]\|PAK1-related disorder [RCV003976015]\|not provided [RCV001696378]	benign	11	77340638	77340638	Human	1	name , trait , alternate_id
151233844	CV1317485	single nucleotide variant	NM_002576.5(PAK1):c.999-12G>A	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV001788863]\|not provided [RCV004709155]	benign	11	77340775	77340775	Human	1	name
156276007	CV2287681	single nucleotide variant	NM_002576.5(PAK1):c.1117-3T>C	Inborn genetic diseases [RCV002877889]	uncertain significance	11	77337426	77337426	Human	1	name
408388071	CV3520626	single nucleotide variant	NM_002576.5(PAK1):c.1216+1G>A	not provided [RCV004761459]	uncertain significance	11	77337323	77337323	Human		name
597664176	CV3732501	single nucleotide variant	NM_002576.5(PAK1):c.1413+1G>T	not provided [RCV005003970]	uncertain significance	11	77336085	77336085	Human		name
243059364	CV2408506	single nucleotide variant	NM_002576.5(PAK1):c.1552-2010A>T	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV003134740]	uncertain significance	11	77325370	77325370	Human	1	name
401905483	CV2813570	single nucleotide variant	NM_002576.5(PAK1):c.1552-2007C>A	not provided [RCV003395933]	uncertain significance	11	77325367	77325367	Human		name
616933522	CV4011552	duplication	NM_002576.5(PAK1):c.-141_-136dup	not specified [RCV005407633]	uncertain significance	11	77473665	77473666	Human		name
8653207	CV129782	single nucleotide variant	NM_001128620.1(PAK1):c.440-1569C>T	Lung cancer [RCV000110269]	uncertain significance	11	77375934	77375934	Human		name
405265519	CV3185751	single nucleotide variant	NM_002576.5(PAK1):c.36C>G (p.Pro12=)	not provided [RCV003886315]	likely benign	11	77392485	77392485	Human		name
405279618	CV3191435	single nucleotide variant	NM_002576.5(PAK1):c.291G>A (p.Thr97=)	PAK1-related disorder [RCV003919590]	benign	11	77379894	77379894	Human		name , trait , alternate_id
243059277	CV2408508	single nucleotide variant	NM_002576.5(PAK1):c.79G>A (p.Gly27Ser)	Inborn genetic diseases [RCV004654183]\|Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV003134742]	uncertain significance	11	77392442	77392442	Human	2	name
401796329	CV2740511	single nucleotide variant	NM_002576.5(PAK1):c.43C>T (p.Pro15Ser)	not provided [RCV003321181]	uncertain significance	11	77392478	77392478	Human		name
401929103	CV2813572	single nucleotide variant	NM_002576.5(PAK1):c.723G>A (p.Lys241=)	not provided [RCV003390098]	likely benign	11	77355717	77355717	Human		name
401905486	CV2813573	single nucleotide variant	NM_002576.5(PAK1):c.708C>T (p.Thr236=)	PAK1-related disorder [RCV003954127]\|not provided [RCV003395935]	likely benign	11	77355732	77355732	Human	1	name , trait , alternate_id
401905489	CV2813575	single nucleotide variant	NM_002576.5(PAK1):c.495T>G (p.Ser165=)	not provided [RCV003395937]	likely benign	11	77359000	77359000	Human		name
405259780	CV3186418	single nucleotide variant	NM_002576.5(PAK1):c.810T>C (p.Tyr270=)	not provided [RCV003884177]	likely benign	11	77353562	77353562	Human		name
405756631	CV3367623	single nucleotide variant	NM_002576.5(PAK1):c.71T>A (p.Ile24Asn)	Inborn genetic diseases [RCV004499943]	uncertain significance	11	77392450	77392450	Human	1	name
597702767	CV3578453	single nucleotide variant	NM_002576.5(PAK1):c.80G>T (p.Gly27Val)	Inborn genetic diseases [RCV004956867]	uncertain significance	11	77392441	77392441	Human	1	name
15180240	CV724748	single nucleotide variant	NM_002576.5(PAK1):c.357A>G (p.Lys119=)	PAK1-related disorder [RCV003930647]\|not provided [RCV000885480]	benign	11	77379323	77379323	Human	1	name , trait , alternate_id
15173156	CV724749	single nucleotide variant	NM_002576.5(PAK1):c.345G>A (p.Ser115=)	PAK1-related disorder [RCV003955872]\|not provided [RCV000883981]	benign	11	77379335	77379335	Human	1	name , trait , alternate_id
150338499	CV1174158	deletion	NM_002576.5(PAK1):c.387del (p.Glu129fs)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV001542445]	uncertain significance	11	77379293	77379293	Human	1	name
151352792	CV1326055	single nucleotide variant	NM_002576.5(PAK1):c.158G>A (p.Arg53Gln)	not provided [RCV001815726]	uncertain significance	11	77392363	77392363	Human		name
152079831	CV1666854	single nucleotide variant	NM_002576.5(PAK1):c.1005C>T (p.Leu335=)	not provided [RCV002211199]	likely benign	11	77340757	77340757	Human		name
155978674	CV2157095	deletion	NM_002576.5(PAK1):c.961del (p.Glu321fs)	not provided [RCV003016268]	uncertain significance	11	77343856	77343856	Human		name
156190255	CV2206021	single nucleotide variant	NM_002576.5(PAK1):c.1581C>T (p.Leu527=)	Inborn genetic diseases [RCV002665837]	uncertain significance	11	77323331	77323331	Human	1	name
329951887	CV2671536	single nucleotide variant	NM_002576.5(PAK1):c.251C>G (p.Thr84Arg)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV003236756]	likely pathogenic	11	77379934	77379934	Human	1	name
401916239	CV2795382	single nucleotide variant	NM_002576.5(PAK1):c.259G>T (p.Val87Phe)	Neurodevelopmental disorder [RCV003389217]	uncertain significance	11	77379926	77379926	Human	1	name
401905481	CV2813569	single nucleotide variant	NM_002576.5(PAK1):c.1557A>G (p.Gln519=)	not provided [RCV003395932]	uncertain significance	11	77323355	77323355	Human		name
401905484	CV2813571	single nucleotide variant	NM_002576.5(PAK1):c.1284A>T (p.Pro428=)	PAK1-related disorder [RCV003954126]\|not provided [RCV003395934]	likely benign	11	77336215	77336215	Human	1	name , trait , alternate_id
405280567	CV3195618	single nucleotide variant	NM_002576.5(PAK1):c.1536T>C (p.Ala512=)	PAK1-related disorder [RCV003906856]	likely benign	11	77332745	77332745	Human		name , trait , alternate_id
405258059	CV3208074	single nucleotide variant	NM_002576.5(PAK1):c.262G>A (p.Gly88Ser)	PAK1-related disorder [RCV003941528]	likely pathogenic	11	77379923	77379923	Human		name , trait , alternate_id
405267629	CV3219369	single nucleotide variant	NM_002576.5(PAK1):c.1189T>C (p.Leu397=)	PAK1-related disorder [RCV003969616]	likely benign	11	77337351	77337351	Human		name , trait , alternate_id
408388651	CV3529077	single nucleotide variant	NM_002576.5(PAK1):c.190A>G (p.Thr64Ala)	not provided [RCV004773899]	uncertain significance	11	77392331	77392331	Human		name
408389337	CV3529339	single nucleotide variant	NM_002576.5(PAK1):c.284A>C (p.Glu95Ala)	not provided [RCV004774161]	uncertain significance	11	77379901	77379901	Human		name
596943743	CV3543017	single nucleotide variant	NM_002576.5(PAK1):c.256C>G (p.His86Asp)	not provided [RCV004798602]	uncertain significance	11	77379929	77379929	Human		name
597702785	CV3578455	single nucleotide variant	NM_002576.5(PAK1):c.169T>G (p.Ser57Ala)	Inborn genetic diseases [RCV004956869]	uncertain significance	11	77392352	77392352	Human	1	name
598123552	CV3890384	single nucleotide variant	NM_002576.5(PAK1):c.283G>C (p.Glu95Gln)	not provided [RCV005250903]	uncertain significance	11	77379902	77379902	Human		name
616938953	CV4015280	single nucleotide variant	NM_002576.5(PAK1):c.241T>G (p.Phe81Val)	not provided [RCV005412789]	uncertain significance	11	77379944	77379944	Human		name
150332176	CV1163741	single nucleotide variant	NM_002576.5(PAK1):c.391T>A (p.Tyr131Asn)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV001528115]	pathogenic\|likely pathogenic	11	77379289	77379289	Human	1	name
150407819	CV1191288	single nucleotide variant	NM_002576.5(PAK1):c.379G>A (p.Val127Met)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV001825000]\|not provided [RCV001565123]	likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	11	77379301	77379301	Human	1	name
150547515	CV1316062	single nucleotide variant	NM_002576.5(PAK1):c.397T>C (p.Ser133Pro)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV001785338]\|not provided [RCV002251770]	pathogenic\|likely pathogenic	11	77379283	77379283	Human	1	name
150547532	CV1316070	single nucleotide variant	NM_002576.5(PAK1):c.361C>T (p.Pro121Ser)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV001785346]\|not provided [RCV002305622]	pathogenic\|likely pathogenic	11	77379319	77379319	Human	1	name
150547547	CV1316077	single nucleotide variant	NM_002576.5(PAK1):c.328T>A (p.Ser110Thr)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV001785353]	likely pathogenic	11	77379352	77379352	Human	1	name
151349991	CV1324555	single nucleotide variant	NM_002576.5(PAK1):c.658T>C (p.Ser220Pro)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV001809000]	uncertain significance	11	77355782	77355782	Human	1	name
152981704	CV1677008	single nucleotide variant	NM_002576.5(PAK1):c.643C>T (p.Arg215Trp)	not provided [RCV004694196]\|not specified [RCV002248075]	uncertain significance	11	77355797	77355797	Human		name
152982477	CV1677410	single nucleotide variant	NM_002576.5(PAK1):c.424T>C (p.Tyr142His)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV002249119]	likely pathogenic	11	77379256	77379256	Human	1	name
155644390	CV1708667	single nucleotide variant	NM_002576.5(PAK1):c.313C>T (p.Arg105Cys)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV002291200]	likely pathogenic	11	77379367	77379367	Human	1	name
155715084	CV1760405	single nucleotide variant	NM_002576.5(PAK1):c.398C>T (p.Ser133Leu)	not provided [RCV002300912]	uncertain significance	11	77379282	77379282	Human		name
155978694	CV2157096	single nucleotide variant	NM_002576.5(PAK1):c.959G>C (p.Arg320Thr)	not provided [RCV003016269]	uncertain significance	11	77343858	77343858	Human		name
156230314	CV2227506	single nucleotide variant	NM_002576.5(PAK1):c.681T>A (p.Asn227Lys)	Inborn genetic diseases [RCV002712714]	uncertain significance	11	77355759	77355759	Human	1	name
156230325	CV2227507	single nucleotide variant	NM_002576.5(PAK1):c.683A>C (p.Asn228Thr)	Inborn genetic diseases [RCV002712715]	uncertain significance	11	77355757	77355757	Human	1	name
156240946	CV2265627	single nucleotide variant	NM_002576.5(PAK1):c.790G>T (p.Gly264Cys)	Inborn genetic diseases [RCV002830520]	uncertain significance	11	77353582	77353582	Human	1	name
243059276	CV2408507	single nucleotide variant	NM_002576.5(PAK1):c.969G>T (p.Lys323Asn)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV003134741]	uncertain significance	11	77343848	77343848	Human	1	name
329361603	CV2437678	single nucleotide variant	NM_002576.5(PAK1):c.557C>T (p.Pro186Leu)	Inborn genetic diseases [RCV003180484]	likely benign	11	77358938	77358938	Human	1	name
329848257	CV2667876	single nucleotide variant	NM_002576.5(PAK1):c.820G>C (p.Glu274Gln)	not provided [RCV003229443]	uncertain significance	11	77353552	77353552	Human		name
329951920	CV2668675	single nucleotide variant	NM_002576.5(PAK1):c.724C>G (p.Gln242Glu)	not provided [RCV003230307]	likely benign	11	77355716	77355716	Human		name
329951884	CV2671533	single nucleotide variant	NM_002576.5(PAK1):c.935T>G (p.Ile312Ser)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV003236753]	likely pathogenic	11	77343882	77343882	Human	1	name
401747009	CV2692043	single nucleotide variant	NM_002576.5(PAK1):c.502C>T (p.Pro168Ser)	Inborn genetic diseases [RCV003275837]	uncertain significance	11	77358993	77358993	Human	1	name
401830300	CV2748002	single nucleotide variant	NM_002576.5(PAK1):c.772C>T (p.Arg258Ter)	not provided [RCV003329609]	uncertain significance	11	77355668	77355668	Human		name
401855632	CV2753050	single nucleotide variant	NM_002576.5(PAK1):c.941A>G (p.Asn314Ser)	Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia [RCV003338105]	uncertain significance	11	77343876	77343876	Human	1	name
401905490	CV2813576	single nucleotide variant	NM_002576.5(PAK1):c.368C>T (p.Ala123Val)	not provided [RCV003395938]	uncertain significance	11	77379312	77379312	Human		name
405288973	CV3193926	single nucleotide variant	NM_002576.5(PAK1):c.427A>G (p.Met143Val)	PAK1-related disorder [RCV003983429]\|not provided [RCV004723546]	likely pathogenic\|uncertain significance	11	77379253	77379253	Human	1	name , trait , alternate_id
405289144	CV3218119	deletion	NM_002576.5(PAK1):c.1226del (p.Gly409fs)	PAK1-related disorder [RCV003983521]	uncertain significance	11	77336273	77336273	Human		name , trait , alternate_id
405291416	CV3222405	single nucleotide variant	NM_002576.5(PAK1):c.732G>T (p.Lys244Asn)	See cases [RCV003985713]	uncertain significance	11	77355708	77355708	Human		name
405692386	CV3227601	single nucleotide variant	NM_002576.5(PAK1):c.613G>A (p.Val205Met)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV003991947]	uncertain significance	11	77355827	77355827	Human	1	name
405756638	CV3367624	single nucleotide variant	NM_002576.5(PAK1):c.966C>A (p.Asn322Lys)	Inborn genetic diseases [RCV004499944]	uncertain significance	11	77343851	77343851	Human	1	name
407517619	CV3470128	single nucleotide variant	NM_002576.5(PAK1):c.607C>T (p.Arg203Trp)	Inborn genetic diseases [RCV004650720]	uncertain significance	11	77355833	77355833	Human	1	name
407478984	CV3470129	single nucleotide variant	NM_002576.5(PAK1):c.953T>G (p.Val318Gly)	Inborn genetic diseases [RCV004664022]	uncertain significance	11	77343864	77343864	Human	1	name
408388912	CV3520900	single nucleotide variant	NM_002576.5(PAK1):c.560C>T (p.Pro187Leu)	not provided [RCV004761733]	uncertain significance	11	77358935	77358935	Human		name
408391512	CV3521344	single nucleotide variant	NM_002576.5(PAK1):c.770T>A (p.Leu257Ter)	not provided [RCV004763166]	uncertain significance	11	77355670	77355670	Human		name
408389006	CV3522854	single nucleotide variant	NM_002576.5(PAK1):c.776G>T (p.Ser259Ile)	not provided [RCV004769235]	uncertain significance	11	77353596	77353596	Human		name
408383128	CV3525732	single nucleotide variant	NM_002576.5(PAK1):c.959G>A (p.Arg320Lys)	not specified [RCV004766642]	uncertain significance	11	77343858	77343858	Human		name
408385276	CV3526950	single nucleotide variant	NM_002576.5(PAK1):c.566T>G (p.Val189Gly)	not provided [RCV004772263]	uncertain significance	11	77358929	77358929	Human		name
596925000	CV3541772	single nucleotide variant	NM_002576.5(PAK1):c.850G>A (p.Val284Met)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV004795483]	likely pathogenic	11	77349274	77349274	Human	1	name
597650767	CV3551944	single nucleotide variant	NM_002576.5(PAK1):c.529G>A (p.Glu177Lys)	not provided [RCV004820657]	uncertain significance	11	77358966	77358966	Human		name
597702750	CV3578451	single nucleotide variant	NM_002576.5(PAK1):c.709C>T (p.Arg237Trp)	Inborn genetic diseases [RCV004956865]	uncertain significance	11	77355731	77355731	Human	1	name
597702757	CV3578452	single nucleotide variant	NM_002576.5(PAK1):c.649G>A (p.Val217Met)	Inborn genetic diseases [RCV004956866]	likely benign	11	77355791	77355791	Human	1	name
597702776	CV3578454	single nucleotide variant	NM_002576.5(PAK1):c.661C>T (p.Pro221Ser)	Inborn genetic diseases [RCV004956868]	uncertain significance	11	77355779	77355779	Human	1	name
597702792	CV3578457	single nucleotide variant	NM_002576.5(PAK1):c.637C>G (p.Pro213Ala)	Inborn genetic diseases [RCV004956870]	uncertain significance	11	77355803	77355803	Human	1	name
597657651	CV3731702	single nucleotide variant	NM_002576.5(PAK1):c.544G>A (p.Asp182Asn)	not provided [RCV005001883]	uncertain significance	11	77358951	77358951	Human		name
597667630	CV3732704	single nucleotide variant	NM_002576.5(PAK1):c.589A>T (p.Thr197Ser)	not provided [RCV005004534]	uncertain significance	11	77358906	77358906	Human		name
598258104	CV4005462	single nucleotide variant	NM_002576.5(PAK1):c.742A>G (p.Met248Val)	Inborn genetic diseases [RCV005386140]	uncertain significance	11	77355698	77355698	Human	1	name
616935852	CV4015956	single nucleotide variant	NM_002576.5(PAK1):c.997A>G (p.Ser333Gly)	not provided [RCV005414820]	uncertain significance	11	77343820	77343820	Human		name
617154002	CV4022165	single nucleotide variant	NM_002576.5(PAK1):c.836G>T (p.Gly279Val)	not provided [RCV005429521]	uncertain significance	11	77353536	77353536	Human		name
13827720	CV578327	single nucleotide variant	NM_002576.5(PAK1):c.392A>G (p.Tyr131Cys)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV000714509]	pathogenic\|likely pathogenic	11	77379288	77379288	Human	1	name
28885394	CV859913	single nucleotide variant	NM_002576.5(PAK1):c.428T>A (p.Met143Lys)	not provided [RCV001091736]	likely pathogenic	11	77379252	77379252	Human		name
34890629	CV904559	single nucleotide variant	NM_002576.5(PAK1):c.314G>A (p.Arg105His)	not provided [RCV001171663]	uncertain significance	11	77379366	77379366	Human		name
38464680	CV961523	single nucleotide variant	NM_002576.5(PAK1):c.362C>T (p.Pro121Leu)	PAK1-related disorder [RCV003399021]\|PAK1-related neurodevelopmental disorders [RCV001249699]\|not provided [RCV001806087]	pathogenic	11	77379318	77379318	Human	1	name , trait , alternate_id
39456906	CV966273	single nucleotide variant	NM_002576.5(PAK1):c.814C>T (p.Arg272Trp)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV003132361]	uncertain significance	11	77353558	77353558	Human	1	name
40890042	CV975334	single nucleotide variant	NM_002576.5(PAK1):c.428T>C (p.Met143Thr)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV002491872]\|not provided [RCV001268614]	likely pathogenic	11	77379252	77379252	Human	1	name
151349989	CV1324554	single nucleotide variant	NM_002576.5(PAK1):c.1579C>T (p.Leu527Phe)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV001808999]	uncertain significance	11	77323333	77323333	Human	1	name
153001156	CV1684065	single nucleotide variant	NM_002576.5(PAK1):c.1016A>G (p.Glu339Gly)	not provided [RCV002254992]	uncertain significance	11	77340746	77340746	Human		name
153349331	CV1693099	single nucleotide variant	NM_002576.5(PAK1):c.1420T>C (p.Tyr474His)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV002275730]	likely pathogenic	11	77332861	77332861	Human	1	name
243051235	CV2415769	single nucleotide variant	NM_002576.5(PAK1):c.1409T>A (p.Leu470Gln)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV003148379]	likely pathogenic	11	77336090	77336090	Human	1	name
329848553	CV2523297	single nucleotide variant	NM_002576.5(PAK1):c.1384C>T (p.Pro462Ser)	not provided [RCV003225311]	uncertain significance	11	77336115	77336115	Human		name
329951885	CV2671534	single nucleotide variant	NM_002576.5(PAK1):c.1426A>G (p.Ile476Val)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV003236754]	likely pathogenic	11	77332855	77332855	Human	1	name
329951886	CV2671535	single nucleotide variant	NM_002576.5(PAK1):c.1111C>T (p.Arg371Cys)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV003236755]	likely pathogenic	11	77340651	77340651	Human	1	name
401733869	CV2736908	single nucleotide variant	NM_002576.5(PAK1):c.1360G>A (p.Ala454Thr)	not provided [RCV003313671]	uncertain significance	11	77336139	77336139	Human		name
401891576	CV2769027	single nucleotide variant	NM_002576.5(PAK1):c.1261C>T (p.Arg421Trp)	Inborn genetic diseases [RCV003354862]	likely pathogenic	11	77336238	77336238	Human	1	name
408381660	CV3523937	single nucleotide variant	NM_002576.5(PAK1):c.1586G>C (p.Ser529Thr)	not provided [RCV004766335]	uncertain significance	11	77323326	77323326	Human		name
596920895	CV3534367	single nucleotide variant	NM_002576.5(PAK1):c.1629C>G (p.Asn543Lys)	not specified [RCV004783586]	uncertain significance	11	77323283	77323283	Human		name
596938657	CV3549709	single nucleotide variant	NM_002576.5(PAK1):c.1262G>T (p.Arg421Leu)	not provided [RCV004812749]	uncertain significance	11	77336237	77336237	Human		name
596940040	CV3550783	single nucleotide variant	NM_002576.5(PAK1):c.1270A>G (p.Met424Val)	not provided [RCV004814683]	uncertain significance	11	77336229	77336229	Human		name
597935624	CV3863763	single nucleotide variant	NM_002576.5(PAK1):c.1058C>A (p.Thr353Lys)	not provided [RCV005207576]	uncertain significance	11	77340704	77340704	Human		name
598126804	CV3882260	single nucleotide variant	NM_002576.5(PAK1):c.1570G>C (p.Ala524Pro)	not provided [RCV005233811]	uncertain significance	11	77323342	77323342	Human		name
598218577	CV3891682	single nucleotide variant	NM_002576.5(PAK1):c.1099G>A (p.Ala367Thr)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV005252525]	uncertain significance	11	77340663	77340663	Human	1	name
598233974	CV3893638	single nucleotide variant	NM_002576.5(PAK1):c.1063G>A (p.Val355Met)	not provided [RCV005256371]	uncertain significance	11	77340699	77340699	Human		name
13827721	CV578328	single nucleotide variant	NM_002576.5(PAK1):c.1286A>G (p.Tyr429Cys)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV000714510]\|not provided [RCV004569406]	pathogenic\|likely pathogenic	11	77336213	77336213	Human	1	name
21075011	CV798646	single nucleotide variant	NM_002576.5(PAK1):c.1427T>C (p.Ile476Thr)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV000995827]\|See cases [RCV002287454]\|not provided [RCV003229871]	pathogenic\|likely pathogenic	11	77332854	77332854	Human	1	name
38598251	CV964371	single nucleotide variant	NM_002576.5(PAK1):c.1483C>G (p.Arg495Gly)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV001253499]	uncertain significance	11	77332798	77332798	Human	1	name
40815306	CV970946	single nucleotide variant	NM_002576.5(PAK1):c.1409T>G (p.Leu470Arg)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV001262617]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	77336090	77336090	Human	1	name
40887038	CV973816	single nucleotide variant	NM_002576.5(PAK1):c.1225G>A (p.Gly409Arg)	Inborn genetic diseases [RCV001266426]	uncertain significance	11	77336274	77336274	Human	1	name
8627129	CV82273	single nucleotide variant	NM_001128620.1(PAK1):c.236C>T (p.Ser79Leu)	Malignant melanoma [RCV000062352]	not provided	11	77379949	77379949	Human		name
8634386	CV89606	single nucleotide variant	NM_001128620.1(PAK1):c.1365C>T (p.Ile455=)	Malignant melanoma [RCV000069703]	not provided	11	77336134	77336134	Human		name
596938713	CV3549765	indel	NM_002576.5(PAK1):c.1079_1080delinsCA (p.Cys360Ser)	not provided [RCV004812806]	uncertain significance	11	77340682	77340683	Human		name
401905487	CV2813574	microsatellite	NM_002576.5(PAK1):c.533ATG[7] (p.Asp183_Ala184insAsp)	PAK1-related disorder [RCV003938913]\|not provided [RCV003395936]	likely benign	11	77358944	77358945	Human		name , trait , alternate_id
598129576	CV3886993	microsatellite	NM_002576.5(PAK1):c.533ATG[8] (p.Asp183_Ala184insAspAsp)	not provided [RCV005245053]	uncertain significance	11	77358944	77358945	Human		name
155794465	CV1858589	microsatellite	NM_002576.5(PAK1):c.1551+376_1551+377insCTTCGCTTCCCCTCCAATCCTTCCCTTCCTTCCCCTCCTCCTACCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCTCCCCCCTCCCCTCTCCCCTTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCACCCTCCCCCCCTCCCCTCCCCTCCCCTCCCC	Schizophrenia [RCV002463551]	uncertain significance	11	77332353	77332354	Human		name
597696139	CV3578459	single nucleotide variant	NM_017906.3(PAK1IP1):c.16G>T (p.Gly6Cys)	not specified [RCV004839086]	uncertain significance	6	10695001	10695001	Human		name
405756681	CV3367630	single nucleotide variant	NM_017906.3(PAK1IP1):c.56C>G (p.Pro19Arg)	not specified [RCV004499950]	uncertain significance	6	10695041	10695041	Human		name
407478993	CV3470132	single nucleotide variant	NM_017906.3(PAK1IP1):c.92C>T (p.Thr31Ile)	not specified [RCV004664024]	uncertain significance	6	10697331	10697331	Human		name
156280039	CV2293937	single nucleotide variant	NM_017906.3(PAK1IP1):c.209A>G (p.Lys70Arg)	not specified [RCV004155480]	uncertain significance	6	10697448	10697448	Human		name
401725845	CV2687303	single nucleotide variant	NM_017906.3(PAK1IP1):c.158G>A (p.Arg53His)	not specified [RCV004298237]	uncertain significance	6	10697397	10697397	Human		name
401760938	CV2695217	single nucleotide variant	NM_017906.3(PAK1IP1):c.112C>T (p.His38Tyr)	not specified [RCV004303355]	uncertain significance	6	10697351	10697351	Human		name
401783004	CV2716083	single nucleotide variant	NM_017906.3(PAK1IP1):c.116A>G (p.His39Arg)	not specified [RCV004323329]	uncertain significance	6	10697355	10697355	Human		name
401879319	CV2773018	single nucleotide variant	NM_017906.3(PAK1IP1):c.158G>C (p.Arg53Pro)	not specified [RCV004351468]	uncertain significance	6	10697397	10697397	Human		name
401879321	CV2773019	single nucleotide variant	NM_017906.3(PAK1IP1):c.163G>T (p.Val55Leu)	not specified [RCV004351469]	uncertain significance	6	10697402	10697402	Human		name
405756644	CV3367625	single nucleotide variant	NM_017906.3(PAK1IP1):c.108C>A (p.Phe36Leu)	not specified [RCV004499945]	uncertain significance	6	10697347	10697347	Human		name
405756652	CV3367626	single nucleotide variant	NM_017906.3(PAK1IP1):c.196A>G (p.Ile66Val)	not specified [RCV004499946]	uncertain significance	6	10697435	10697435	Human		name
405756662	CV3367627	single nucleotide variant	NM_017906.3(PAK1IP1):c.200A>G (p.Tyr67Cys)	not specified [RCV004499947]	uncertain significance	6	10697439	10697439	Human		name
156330710	CV2210683	single nucleotide variant	NM_017906.3(PAK1IP1):c.347T>C (p.Leu116Pro)	not specified [RCV004083824]	uncertain significance	6	10702468	10702468	Human		name
156279027	CV2252130	single nucleotide variant	NM_017906.3(PAK1IP1):c.979T>C (p.Ser327Pro)	not specified [RCV004122153]	uncertain significance	6	10709252	10709252	Human		name
329383502	CV2425007	single nucleotide variant	NM_017906.3(PAK1IP1):c.482A>G (p.Lys161Arg)	not specified [RCV004250665]	uncertain significance	6	10703443	10703443	Human		name
405756669	CV3367628	single nucleotide variant	NM_017906.3(PAK1IP1):c.325G>C (p.Asp109His)	not specified [RCV004499948]	uncertain significance	6	10702446	10702446	Human		name
405756674	CV3367629	single nucleotide variant	NM_017906.3(PAK1IP1):c.412G>A (p.Ala138Thr)	not specified [RCV004499949]	uncertain significance	6	10702608	10702608	Human		name
407478989	CV3470130	single nucleotide variant	NM_017906.3(PAK1IP1):c.568T>A (p.Tyr190Asn)	not specified [RCV004664023]	uncertain significance	6	10704578	10704578	Human		name
407517621	CV3470131	single nucleotide variant	NM_017906.3(PAK1IP1):c.376G>T (p.Val126Leu)	not specified [RCV004650721]	uncertain significance	6	10702572	10702572	Human		name
597696146	CV3578458	single nucleotide variant	NM_017906.3(PAK1IP1):c.531G>C (p.Glu177Asp)	not specified [RCV004839085]	uncertain significance	6	10704541	10704541	Human		name
597695841	CV3578460	single nucleotide variant	NM_017906.3(PAK1IP1):c.599C>T (p.Thr200Ile)	not specified [RCV004839087]	uncertain significance	6	10704609	10704609	Human		name
597695582	CV3578461	single nucleotide variant	NM_017906.3(PAK1IP1):c.568T>C (p.Tyr190His)	not specified [RCV004839088]	uncertain significance	6	10704578	10704578	Human		name
597695573	CV3578462	single nucleotide variant	NM_017906.3(PAK1IP1):c.428C>A (p.Thr143Lys)	not specified [RCV004839089]	uncertain significance	6	10702624	10702624	Human		name
597695563	CV3578463	single nucleotide variant	NM_017906.3(PAK1IP1):c.310C>T (p.Leu104Phe)	not specified [RCV004839090]	uncertain significance	6	10702431	10702431	Human		name
597695553	CV3578464	single nucleotide variant	NM_017906.3(PAK1IP1):c.380C>G (p.Thr127Ser)	not specified [RCV004839091]	uncertain significance	6	10702576	10702576	Human		name
598258095	CV4005464	single nucleotide variant	NM_017906.3(PAK1IP1):c.569A>G (p.Tyr190Cys)	not specified [RCV005386142]	uncertain significance	6	10704579	10704579	Human		name
598258090	CV4005465	single nucleotide variant	NM_017906.3(PAK1IP1):c.316T>C (p.Cys106Arg)	not specified [RCV005386143]	uncertain significance	6	10702437	10702437	Human		name
598258085	CV4005466	single nucleotide variant	NM_017906.3(PAK1IP1):c.394C>T (p.His132Tyr)	not specified [RCV005386144]	uncertain significance	6	10702590	10702590	Human		name
156010564	CV2362140	single nucleotide variant	NM_017906.3(PAK1IP1):c.1063A>T (p.Thr355Ser)	not specified [RCV004209943]	uncertain significance	6	10709336	10709336	Human		name
329386965	CV2436175	single nucleotide variant	NM_017906.3(PAK1IP1):c.1158G>C (p.Lys386Asn)	not specified [RCV004249808]	uncertain significance	6	10709431	10709431	Human		name
598258100	CV4005463	single nucleotide variant	NM_017906.3(PAK1IP1):c.1054C>T (p.Arg352Cys)	not specified [RCV005386141]	likely benign	6	10709327	10709327	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message