Mapk8 Variant Search Result - Rat Genome Database

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575 records found for search term Mapk8

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150490851	CV1267681	single nucleotide variant	NM_001323329.2(MAPK8):c.*154A>G	not provided [RCV001687705]	benign	10	48435183	48435183	Human		name
150507472	CV1211184	single nucleotide variant	NM_001323329.2(MAPK8):c.123-51A>C	not provided [RCV001596303]\|not specified [RCV003487504]	benign	10	48404801	48404801	Human		name
150509023	CV1214194	single nucleotide variant	NM_001323329.2(MAPK8):c.-49-77C>A	not provided [RCV001596715]\|not specified [RCV003487505]	benign	10	48401535	48401535	Human		name
150450523	CV1232690	single nucleotide variant	NM_001323329.2(MAPK8):c.689-56T>A	not provided [RCV001647765]	benign	10	48425832	48425832	Human		name
150509555	CV1247338	single nucleotide variant	NM_001323329.2(MAPK8):c.311+37A>G	not provided [RCV001659365]\|not specified [RCV003487640]	benign	10	48409974	48409974	Human		name
150471752	CV1252127	single nucleotide variant	NM_001323329.2(MAPK8):c.253-80T>A	not provided [RCV001671328]\|not specified [RCV003487649]	benign	10	48409799	48409799	Human		name
150480650	CV1279543	single nucleotide variant	NM_001323329.2(MAPK8):c.997-51T>A	not provided [RCV001714690]	benign	10	48427029	48427029	Human		name
404982885	CV2849196	single nucleotide variant	NM_001323329.2(MAPK8):c.871+66G>A	not specified [RCV003489068]	benign	10	48426136	48426136	Human		name
150336459	CV1165012	single nucleotide variant	NM_001323329.2(MAPK8):c.450+141T>G	not provided [RCV001530852]	benign	10	48410309	48410309	Human		name
404983102	CV2849236	single nucleotide variant	NM_001323329.2(MAPK8):c.1060+91T>G	not specified [RCV003489108]	benign	10	48427234	48427234	Human		name
8651975	CV128550	single nucleotide variant	NM_001278547.1(MAPK8):c.-49-41168C>T	Lung cancer [RCV000109037]	uncertain significance	10	48360444	48360444	Human		name
150483277	CV1223563	microsatellite	NM_001323329.2(MAPK8):c.252+126AT[14]	not provided [RCV001617277]	benign	10	48405106	48405107	Human		name
150497958	CV1224056	microsatellite	NM_001323329.2(MAPK8):c.252+126AT[12]	not provided [RCV001620168]	benign	10	48405106	48405107	Human		name
150485618	CV1262131	microsatellite	NM_001323329.2(MAPK8):c.252+126AT[10]	not provided [RCV001686822]	benign	10	48405107	48405108	Human		name
150471253	CV1270039	microsatellite	NM_001323329.2(MAPK8):c.252+126AT[13]	not provided [RCV001695327]	benign	10	48405106	48405107	Human		name
405257980	CV3207976	single nucleotide variant	NM_001323329.2(MAPK8):c.48A>G (p.Gly16=)	MAPK8-related disorder [RCV003941444]	likely benign	10	48401708	48401708	Human		name , trait , alternate_id
15139917	CV737501	single nucleotide variant	NM_001323329.2(MAPK8):c.291C>T (p.Ser97=)	not provided [RCV000899227]	benign	10	48409917	48409917	Human		name
15103066	CV767754	single nucleotide variant	NM_001323329.2(MAPK8):c.105A>G (p.Gly35=)	not provided [RCV000937119]	likely benign	10	48401765	48401765	Human		name
150444727	CV1266572	insertion	NM_001323329.2(MAPK8):c.689-57_689-56insCA	not provided [RCV001691009]	benign	10	48425830	48425831	Human		name
405279127	CV3219290	single nucleotide variant	NM_001323329.2(MAPK8):c.510C>T (p.Phe170=)	MAPK8-related disorder [RCV003954826]	likely benign	10	48420214	48420214	Human		name , trait , alternate_id
15101090	CV701358	single nucleotide variant	NM_001323329.2(MAPK8):c.1179G>A (p.Ser393=)	not provided [RCV000959018]	benign	10	48434924	48434924	Human		name
150458976	CV1263940	insertion	NM_001323329.2(MAPK8):c.252+141_252+142insGT	not provided [RCV001681854]	benign	10	48405121	48405122	Human		name
150473687	CV1234322	insertion	NM_001323329.2(MAPK8):c.689-54_689-53insATACATT	not provided [RCV001651641]	benign	10	48425834	48425835	Human		name
150338976	CV1167501	insertion	NM_001323329.2(MAPK8):c.689-52_689-51insTGTAAATG	not provided [RCV001533957]	benign	10	48425836	48425837	Human		name
405286506	CV3205377	single nucleotide variant	NM_005456.4(MAPK8IP1):c.-5C>T	MAPK8IP1-related disorder [RCV003959561]	likely benign	11	45885816	45885816	Human		name , trait , alternate_id
401948552	CV2832652	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1666+5T>C	Type 2 diabetes mellitus [RCV003448633]	uncertain significance	11	45904166	45904166	Human	3	name
155797174	CV1863207	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.318+1G>A	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV002470481]	likely pathogenic	16	1706658	1706658	Human	1	name
401943641	CV2840121	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.510+6C>T	not provided [RCV003456906]	likely benign	16	1729214	1729214	Human		name
150339523	CV1174853	duplication	NM_001318852.2(MAPK8IP3):c.2121+1dup	not provided [RCV001543552]	likely pathogenic	16	1764209	1764210	Human		name
151349811	CV1325472	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3893-5C>A	not provided [RCV001814758]	uncertain significance	16	1768698	1768698	Human		name
151663303	CV1331048	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2820-3C>G	MAPK8IP3-related disorder [RCV003985854]	not provided	16	1766526	1766526	Human		name , trait , alternate_id
152080572	CV1666983	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2121+5G>A	not provided [RCV002211328]	likely benign	16	1764215	1764215	Human		name
152080595	CV1666989	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3892+7G>A	MAPK8IP3-related disorder [RCV003985868]\|not provided [RCV002211334]	benign\|likely benign	16	1768633	1768633	Human	1	name , trait , alternate_id
156378222	CV2207661	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1247-3C>T	Inborn genetic diseases [RCV002678174]	uncertain significance	16	1759955	1759955	Human	1	name
156119256	CV2219247	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1457+3G>A	Inborn genetic diseases [RCV002707726]	likely benign	16	1760535	1760535	Human	1	name
243049871	CV2417094	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2025+2T>G	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003151964]	uncertain significance	16	1763785	1763785	Human	1	name
329847015	CV2524102	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2820-7C>T	not specified [RCV003226807]	uncertain significance	16	1766522	1766522	Human		name
329954615	CV2670556	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2025+5G>C	not provided [RCV003235823]	uncertain significance	16	1763788	1763788	Human		name
401931706	CV2803651	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1098-4A>G	MAPK8IP3-related disorder [RCV003985887]	uncertain significance	16	1748598	1748598	Human		name , trait , alternate_id
401904738	CV2810816	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3523+8G>C	not provided [RCV003395203]	benign	16	1767926	1767926	Human		name
405280581	CV3191847	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1217-6C>T	MAPK8IP3-related disorder [RCV003985923]	likely benign	16	1758142	1758142	Human		name , trait , alternate_id
405280603	CV3213019	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3892+7G>T	MAPK8IP3-related disorder [RCV003985935]	likely benign	16	1768633	1768633	Human		name , trait , alternate_id
407426216	CV3409770	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2446+3G>A	not provided [RCV004585702]	likely benign	16	1765181	1765181	Human		name
408386082	CV3415551	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2122-1G>A	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV004767652]	likely pathogenic	16	1764300	1764300	Human	1	name
616938725	CV4015141	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2940-2A>G	Incidental Discovery [RCV005412157]	uncertain significance	16	1766721	1766721	Human		name
38461007	CV920367	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2819+1G>A	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001197151]	uncertain significance	16	1766410	1766410	Human	1	name
150409786	CV1175429	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2447-15C>T	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001544270]\|not provided [RCV001685493]	benign	16	1765945	1765945	Human	1	name
150409788	CV1175430	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3409+18A>G	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001544271]\|not provided [RCV004715495]	benign	16	1767753	1767753	Human	1	name
150409790	CV1175431	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3409+32T>G	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001544272]\|not provided [RCV004716764]	benign	16	1767767	1767767	Human	1	name
150409793	CV1175432	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3523+16A>C	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001544273]\|not provided [RCV004716765]	benign	16	1767934	1767934	Human	1	name
150409797	CV1175433	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3562+44C>T	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001544274]\|not provided [RCV004716766]	benign	16	1768151	1768151	Human	1	name
150409799	CV1175434	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3562+45T>C	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001544275]\|not provided [RCV004715496]	benign	16	1768152	1768152	Human	1	name
150410060	CV1175436	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3893-24G>C	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001544459]\|not provided [RCV004715504]	benign	16	1768679	1768679	Human	1	name
401904700	CV2810792	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.748-254C>T	not provided [RCV003395184]	likely benign	16	1746775	1746775	Human		name
401904740	CV2810817	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3524-38C>T	not provided [RCV003395204]	benign	16	1768031	1768031	Human		name
15200532	CV778182	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3020+10C>A	not provided [RCV000957358]	benign	16	1766813	1766813	Human		name
405690799	CV3227444	duplication	NM_001318852.2(MAPK8IP3):c.601_602+13dup	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003991788]	uncertain significance	16	1729576	1729577	Human	1	name
401904696	CV2810789	deletion	NM_001318852.2(MAPK8IP3):c.602+7_602+56del	MAPK8IP3-related disorder [RCV003985893]\|not provided [RCV003395182]	benign\|likely benign	16	1729569	1729618	Human	1	name , trait , alternate_id
401930199	CV2810790	deletion	NM_001318852.2(MAPK8IP3):c.602+21_602+45del	not provided [RCV003390607]	benign	16	1729575	1729599	Human		name
405280578	CV3191593	deletion	NM_001318852.2(MAPK8IP3):c.1228+3_1228+6del	MAPK8IP3-related disorder [RCV003985921]	likely benign	16	1758160	1758163	Human		name , trait , alternate_id
617149275	CV4017380	deletion	NM_001318852.2(MAPK8IP3):c.2630-2_2630-1del	not provided [RCV005417038]	likely pathogenic	16	1766218	1766219	Human		name
13540301	CV505435	microsatellite	NM_001318852.2(MAPK8IP3):c.1458-3_1458-2del	MAPK8IP3-related disorder [RCV003985802]\|not provided [RCV003392448]\|not specified [RCV000614505]	likely benign	16	1761219	1761220	Human		name , trait , alternate_id
150409782	CV1175427	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2211T>C (p.Asp737=)	MAPK8IP3-related disorder [RCV003985847]\|Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001544268]\|not provided [RCV001707905]	benign	16	1764390	1764390	Human	1	name , trait , alternate_id
150409784	CV1175428	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2260A>G (p.Thr754Ala)	MAPK8IP3-related disorder [RCV003985848]\|Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001544269]\|not provided [RCV004715494]	benign	16	1764439	1764439	Human	3	name , trait , alternate_id
150409784	CV1175428	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2260A>G (p.Thr754Ala)	MAPK8IP3-related disorder [RCV003985848]\|Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001544269]\|not provided [RCV004715494]	benign	16	1764439	1764440	Human	3	name , trait , alternate_id
150410058	CV1175435	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3768G>C (p.Gly1256=)	MAPK8IP3-related disorder [RCV003985849]\|Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001544458]\|not provided [RCV001762723]	benign	16	1768502	1768502	Human	1	name , trait , alternate_id
150503035	CV1223367	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1863G>C (p.Ser621=)	MAPK8IP3-related disorder [RCV003985851]\|not provided [RCV001621302]	benign	16	1762971	1762971	Human	1	name , trait , alternate_id
152080564	CV1666982	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.9G>A (p.Glu3=)	MAPK8IP3-related disorder [RCV003985867]\|not provided [RCV002211327]	benign\|likely benign	16	1706348	1706348	Human	1	name , trait , alternate_id
153304651	CV1687200	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.579C>T (p.Thr193=)	MAPK8IP3-related disorder [RCV003985870]\|not provided [RCV002262488]	benign\|likely benign	16	1729555	1729555	Human	1	name , trait , alternate_id
153304659	CV1687205	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2955G>A (p.Ser985=)	MAPK8IP3-related disorder [RCV003985871]\|not provided [RCV002262493]	benign\|likely benign	16	1766738	1766738	Human	1	name , trait , alternate_id
156213192	CV2385832	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2572G>A (p.Val858Met)	Inborn genetic diseases [RCV002744210]\|MAPK8IP3-related disorder [RCV003985877]\|not specified [RCV003994517]	likely benign\|uncertain significance	16	1766085	1766085	Human	2	name , trait , alternate_id
329351772	CV2476613	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1473C>T (p.Ala491=)	MAPK8IP3-related disorder [RCV003985879]\|not provided [RCV003222845]	likely benign	16	1761239	1761239	Human	1	name , trait , alternate_id
401829345	CV2743753	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1692C>T (p.Ser564=)	MAPK8IP3-related disorder [RCV003985882]\|not provided [RCV003326929]	likely benign	16	1762696	1762696	Human	1	name , trait , alternate_id
401926978	CV2796805	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.75G>A (p.Met25Ile)	MAPK8IP3-related disorder [RCV003985885]	uncertain significance	16	1706414	1706414	Human		name , trait , alternate_id
401902664	CV2799474	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3172G>A (p.Asp1058Asn)	MAPK8IP3-related disorder [RCV003985892]	uncertain significance	16	1767232	1767232	Human		name , trait , alternate_id
401933445	CV2802000	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3846C>G (p.Asn1282Lys)	MAPK8IP3-related disorder [RCV003985890]	uncertain significance	16	1768580	1768580	Human		name , trait , alternate_id
401921140	CV2802246	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2459G>A (p.Ser820Asn)	MAPK8IP3-related disorder [RCV003985891]	uncertain significance	16	1765972	1765972	Human		name , trait , alternate_id
401909351	CV2804014	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3567T>G (p.Asn1189Lys)	MAPK8IP3-related disorder [RCV003985888]	uncertain significance	16	1768203	1768203	Human		name , trait , alternate_id
401904698	CV2810791	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.681C>T (p.Leu227=)	MAPK8IP3-related disorder [RCV003985894]\|not provided [RCV003395183]	likely benign	16	1743410	1743410	Human	1	name , trait , alternate_id
401904703	CV2810794	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.990T>C (p.Ser330=)	MAPK8IP3-related disorder [RCV003985895]\|not provided [RCV003395186]	benign\|likely benign	16	1747271	1747271	Human	1	name , trait , alternate_id
401904713	CV2810802	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1899C>T (p.Asp633=)	MAPK8IP3-related disorder [RCV003985896]\|not provided [RCV003395191]	benign\|likely benign	16	1763657	1763657	Human	1	name , trait , alternate_id
401930209	CV2810814	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3175C>T (p.Arg1059Cys)	Inborn genetic diseases [RCV004364532]\|MAPK8IP3-related disorder [RCV003985897]\|not provided [RCV003390612]	benign\|likely benign	16	1767235	1767235	Human	2	name , trait , alternate_id
401930211	CV2810824	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3915G>A (p.Thr1305=)	MAPK8IP3-related disorder [RCV003985898]\|not provided [RCV003390613]	likely benign	16	1768725	1768725	Human	1	name , trait , alternate_id
405270035	CV3185946	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1620G>A (p.Lys540=)	MAPK8IP3-related disorder [RCV003985909]\|not provided [RCV003885022]	benign\|likely benign	16	1762431	1762431	Human	1	name , trait , alternate_id
405280670	CV3190213	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1230G>A (p.Val410=)	MAPK8IP3-related disorder [RCV003985917]	likely benign	16	1758979	1758979	Human		name , trait , alternate_id
405280617	CV3193361	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.768C>T (p.Ser256=)	MAPK8IP3-related disorder [RCV003985943]	benign	16	1747049	1747049	Human		name , trait , alternate_id
405259282	CV3194581	single nucleotide variant	NM_005456.4(MAPK8IP1):c.267C>T (p.Ala89=)	MAPK8IP1-related disorder [RCV003893975]	likely benign	11	45900197	45900197	Human		name , trait , alternate_id
405280615	CV3196553	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.852C>T (p.Ala284=)	MAPK8IP3-related disorder [RCV003985942]	likely benign	16	1747133	1747133	Human		name , trait , alternate_id
405269736	CV3197920	single nucleotide variant	NM_005456.4(MAPK8IP1):c.375G>T (p.Gly125=)	MAPK8IP1-related disorder [RCV003899733]	likely benign	11	45900305	45900305	Human		name , trait , alternate_id
405280570	CV3197954	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2036A>G (p.Asn679Ser)	MAPK8IP3-related disorder [RCV003985916]	likely benign	16	1764125	1764125	Human		name , trait , alternate_id
405280614	CV3199833	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.387C>T (p.Tyr129=)	MAPK8IP3-related disorder [RCV003985941]	benign	16	1724625	1724625	Human		name , trait , alternate_id
405280568	CV3201737	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3348T>C (p.His1116=)	MAPK8IP3-related disorder [RCV003985915]	likely benign	16	1767674	1767674	Human		name , trait , alternate_id
405280576	CV3202725	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3146C>G (p.Ser1049Cys)	MAPK8IP3-related disorder [RCV003985920]	likely benign	16	1767206	1767206	Human		name , trait , alternate_id
405280596	CV3204436	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1382G>T (p.Gly461Val)	Inborn genetic diseases [RCV004987148]\|MAPK8IP3-related disorder [RCV003985931]	uncertain significance	16	1760457	1760457	Human	2	name , trait , alternate_id
405280598	CV3204508	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3906C>T (p.Asp1302=)	MAPK8IP3-related disorder [RCV003985932]	likely benign	16	1768716	1768716	Human		name , trait , alternate_id
405289106	CV3204981	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1057C>A (p.Arg353=)	MAPK8IP1-related disorder [RCV003961612]	likely benign	11	45902824	45902824	Human		name , trait , alternate_id
405280607	CV3205953	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1218G>A (p.Gly406=)	MAPK8IP3-related disorder [RCV003985937]	likely benign	16	1758149	1758149	Human		name , trait , alternate_id
405280609	CV3206147	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2514G>A (p.Pro838=)	MAPK8IP3-related disorder [RCV003985938]\|not provided [RCV004721796]	benign\|likely benign	16	1766027	1766027	Human	1	name , trait , alternate_id
405280580	CV3207065	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.39G>A (p.Val13=)	MAPK8IP3-related disorder [RCV003985922]	benign	16	1706378	1706378	Human		name , trait , alternate_id
405280594	CV3209501	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2486T>C (p.Leu829Pro)	MAPK8IP3-related disorder [RCV003985930]	likely benign	16	1765999	1765999	Human		name , trait , alternate_id
405280587	CV3211334	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2454C>T (p.Ser818=)	MAPK8IP3-related disorder [RCV003985926]	benign	16	1765967	1765967	Human		name , trait , alternate_id
405280589	CV3211371	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2790G>A (p.Pro930=)	MAPK8IP3-related disorder [RCV003985927]\|not provided [RCV004721782]	benign\|likely benign	16	1766380	1766380	Human	1	name , trait , alternate_id
405274417	CV3211763	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1020G>A (p.Ser340=)	MAPK8IP1-related disorder [RCV003951559]	likely benign	11	45902787	45902787	Human		name , trait , alternate_id
405280605	CV3213138	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3054G>A (p.Ala1018=)	MAPK8IP3-related disorder [RCV003985936]	benign	16	1766937	1766937	Human		name , trait , alternate_id
405280583	CV3213777	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1855C>T (p.Pro619Ser)	MAPK8IP3-related disorder [RCV003985924]	uncertain significance	16	1762963	1762963	Human		name , trait , alternate_id
405280585	CV3215404	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.648C>T (p.Asp216=)	MAPK8IP3-related disorder [RCV003985925]	likely benign	16	1743377	1743377	Human		name , trait , alternate_id
405280592	CV3215710	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2142C>T (p.Val714=)	MAPK8IP3-related disorder [RCV003985929]	likely benign	16	1764321	1764321	Human		name , trait , alternate_id
405280602	CV3216477	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1827C>T (p.Phe609=)	MAPK8IP3-related disorder [RCV003985934]	likely benign	16	1762935	1762935	Human		name , trait , alternate_id
408382727	CV3503642	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2956G>A (p.Ala986Thr)	MAPK8IP3-related disorder [RCV004730115]	uncertain significance	16	1766739	1766739	Human		name , trait , alternate_id
408378484	CV3505277	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2636T>A (p.Val879Glu)	MAPK8IP3-related disorder [RCV004727986]	uncertain significance	16	1766226	1766226	Human		name , trait , alternate_id
408369169	CV3508796	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2020A>C (p.Lys674Gln)	MAPK8IP3-related disorder [RCV004736611]	uncertain significance	16	1763778	1763778	Human		name , trait , alternate_id
408368335	CV3510622	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2165A>G (p.Asn722Ser)	MAPK8IP3-related disorder [RCV004735072]	likely benign	16	1764344	1764344	Human		name , trait , alternate_id
408368928	CV3517716	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3449C>T (p.Ala1150Val)	MAPK8IP3-related disorder [RCV004736130]	uncertain significance	16	1767844	1767844	Human		name , trait , alternate_id
13832625	CV589806	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.111C>G (p.Tyr37Ter)	MAPK8IP3-related disorder [RCV000735203]\|Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV000779602]	pathogenic\|likely pathogenic	16	1706450	1706450	Human	1	name , trait , alternate_id
15121996	CV714768	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3459C>T (p.Val1153=)	MAPK8IP3-related disorder [RCV003985834]\|not provided [RCV000962997]	benign	16	1767854	1767854	Human	1	name , trait , alternate_id
15097744	CV726463	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.66C>T (p.Gly22=)	MAPK8IP3-related disorder [RCV003985832]\|not provided [RCV000891572]	benign	16	1706405	1706405	Human	1	name , trait , alternate_id
15172195	CV726469	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2133C>T (p.Ala711=)	MAPK8IP3-related disorder [RCV003985831]\|not provided [RCV000883794]	benign	16	1764312	1764312	Human	1	name , trait , alternate_id
401738164	CV2711639	single nucleotide variant	NM_005456.4(MAPK8IP1):c.19G>C (p.Gly7Arg)	not specified [RCV004307279]	uncertain significance	11	45885839	45885839	Human		name
155925824	CV2208048	single nucleotide variant	NM_005456.4(MAPK8IP1):c.32G>C (p.Gly11Ala)	not specified [RCV004086743]	uncertain significance	11	45885852	45885852	Human		name
156087358	CV2295416	single nucleotide variant	NM_005456.4(MAPK8IP1):c.82G>C (p.Ala28Pro)	not specified [RCV004160540]	uncertain significance	11	45885902	45885902	Human		name
401775018	CV2713739	single nucleotide variant	NM_005456.4(MAPK8IP1):c.52G>C (p.Ala18Pro)	not specified [RCV004321089]	uncertain significance	11	45885872	45885872	Human		name
401777813	CV2718347	single nucleotide variant	NM_012324.6(MAPK8IP2):c.32C>T (p.Ser11Phe)	not specified [RCV004318179]	uncertain significance	22	50600850	50600850	Human		name
405811868	CV3285145	single nucleotide variant	NM_005456.4(MAPK8IP1):c.88C>T (p.Pro30Ser)	not specified [RCV004408681]	uncertain significance	11	45885908	45885908	Human		name
598198288	CV3985354	single nucleotide variant	NM_005456.4(MAPK8IP1):c.34G>A (p.Gly12Arg)	not specified [RCV005375532]	uncertain significance	11	45885854	45885854	Human		name
8558686	CV20458	single nucleotide variant	NM_005456.4(MAPK8IP1):c.176G>A (p.Ser59Asn)	Diabetes mellitus type 2, susceptibility to [RCV000005752]	pathogenic\|risk factor	11	45898159	45898159	Human	1	name
156053320	CV2269489	single nucleotide variant	NM_012324.6(MAPK8IP2):c.209C>A (p.Pro70His)	not specified [RCV004124602]	uncertain significance	22	50603260	50603260	Human		name
155993764	CV2286336	single nucleotide variant	NM_005456.4(MAPK8IP1):c.209C>T (p.Pro70Leu)	not specified [RCV004146283]	uncertain significance	11	45900139	45900139	Human		name
155984579	CV2344828	single nucleotide variant	NM_005456.4(MAPK8IP1):c.227T>C (p.Leu76Pro)	not specified [RCV004190970]	uncertain significance	11	45900157	45900157	Human		name
156195630	CV2347546	single nucleotide variant	NM_012324.6(MAPK8IP2):c.194C>T (p.Ser65Leu)	not specified [RCV004200486]	uncertain significance	22	50603245	50603245	Human		name
401741587	CV2680441	single nucleotide variant	NM_005456.4(MAPK8IP1):c.224T>C (p.Leu75Pro)	not specified [RCV004288681]	uncertain significance	11	45900154	45900154	Human		name
401781171	CV2681913	single nucleotide variant	NM_012324.6(MAPK8IP2):c.182C>G (p.Ser61Cys)	not specified [RCV004296904]	uncertain significance	22	50603233	50603233	Human		name
401723874	CV2684897	single nucleotide variant	NM_012324.6(MAPK8IP2):c.203C>T (p.Pro68Leu)	not specified [RCV004296402]	uncertain significance	22	50603254	50603254	Human		name
401732269	CV2708754	single nucleotide variant	NM_012324.6(MAPK8IP2):c.133G>T (p.Gly45Cys)	not specified [RCV004307720]	uncertain significance	22	50601856	50601856	Human		name
405811884	CV3285152	single nucleotide variant	NM_012324.6(MAPK8IP2):c.274G>A (p.Asp92Asn)	not specified [RCV004408688]	uncertain significance	22	50603325	50603325	Human		name
407469199	CV3456807	single nucleotide variant	NM_005456.4(MAPK8IP1):c.206G>A (p.Arg69Gln)	not specified [RCV004636544]	uncertain significance	11	45898189	45898189	Human		name
407469203	CV3456810	single nucleotide variant	NM_012324.6(MAPK8IP2):c.174C>A (p.Asp58Glu)	not specified [RCV004636545]	uncertain significance	22	50603225	50603225	Human		name
407494547	CV3456811	single nucleotide variant	NM_012324.6(MAPK8IP2):c.184C>A (p.Leu62Met)	not specified [RCV004643016]	uncertain significance	22	50603235	50603235	Human		name
597635505	CV3697393	single nucleotide variant	NM_005456.4(MAPK8IP1):c.223C>G (p.Leu75Val)	not specified [RCV004940631]	uncertain significance	11	45900153	45900153	Human		name
598223627	CV3894026	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.66C>G (p.Gly22=)	not provided [RCV005257269]	likely benign	16	1706405	1706405	Human		name
598198296	CV3985355	single nucleotide variant	NM_005456.4(MAPK8IP1):c.271A>G (p.Met91Val)	not specified [RCV005375533]	uncertain significance	11	45900201	45900201	Human		name
598198304	CV3985356	single nucleotide variant	NM_005456.4(MAPK8IP1):c.217G>A (p.Ala73Thr)	not specified [RCV005375534]	uncertain significance	11	45900147	45900147	Human		name
598198321	CV3985365	single nucleotide variant	NM_012324.6(MAPK8IP2):c.226G>A (p.Asp76Asn)	not specified [RCV005375536]	uncertain significance	22	50603277	50603277	Human		name
15115053	CV717558	single nucleotide variant	NM_012324.6(MAPK8IP2):c.1158G>C (p.Pro386=)	not provided [RCV000961783]	benign	22	50604457	50604457	Human		name
15102396	CV724443	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1344G>A (p.Thr448=)	not provided [RCV000892471]	benign	11	45903111	45903111	Human		name
126911928	CV1038065	single nucleotide variant	NM_005456.4(MAPK8IP1):c.715C>T (p.Arg239Cys)	not provided [RCV001355943]\|not specified [RCV004935201]	uncertain significance	11	45902482	45902482	Human		name
156380687	CV2218894	single nucleotide variant	NM_012324.6(MAPK8IP2):c.679G>A (p.Gly227Ser)	not specified [RCV004085122]	uncertain significance	22	50603978	50603978	Human		name
156184691	CV2239245	single nucleotide variant	NM_005456.4(MAPK8IP1):c.581G>A (p.Arg194Gln)	not specified [RCV004112215]	uncertain significance	11	45902038	45902038	Human		name
156182036	CV2255166	single nucleotide variant	NM_012324.6(MAPK8IP2):c.307G>A (p.Glu103Lys)	not specified [RCV004115786]	uncertain significance	22	50603358	50603358	Human		name
156313993	CV2257091	single nucleotide variant	NM_012324.6(MAPK8IP2):c.727C>T (p.Arg243Cys)	not specified [RCV004123056]	uncertain significance	22	50604026	50604026	Human		name
156196837	CV2293502	single nucleotide variant	NM_005456.4(MAPK8IP1):c.673C>T (p.Pro225Ser)	not specified [RCV004153039]	uncertain significance	11	45902440	45902440	Human		name
156279917	CV2293908	single nucleotide variant	NM_012324.6(MAPK8IP2):c.607G>T (p.Gly203Cys)	not specified [RCV004155454]	uncertain significance	22	50603906	50603906	Human		name
156043690	CV2305846	single nucleotide variant	NM_012324.6(MAPK8IP2):c.641C>G (p.Pro214Arg)	not specified [RCV004167644]	uncertain significance	22	50603940	50603940	Human		name
156149845	CV2307436	single nucleotide variant	NM_005456.4(MAPK8IP1):c.556C>T (p.His186Tyr)	not specified [RCV004166104]	uncertain significance	11	45902013	45902013	Human		name
156045405	CV2308083	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.15G>T (p.Gln5His)	Inborn genetic diseases [RCV002910890]	uncertain significance	16	1706354	1706354	Human	1	name
155928527	CV2360056	single nucleotide variant	NM_005456.4(MAPK8IP1):c.659A>C (p.Gln220Pro)	not specified [RCV004212889]	uncertain significance	11	45902426	45902426	Human		name
156284011	CV2360623	single nucleotide variant	NM_012324.6(MAPK8IP2):c.527C>T (p.Pro176Leu)	not specified [RCV004213425]	uncertain significance	22	50603705	50603705	Human		name
155937733	CV2373800	single nucleotide variant	NM_012324.6(MAPK8IP2):c.490G>A (p.Ala164Thr)	not specified [RCV004224740]	uncertain significance	22	50603668	50603668	Human		name
156139084	CV2374273	single nucleotide variant	NM_005456.4(MAPK8IP1):c.686G>A (p.Arg229Gln)	not specified [RCV004229409]	uncertain significance	11	45902453	45902453	Human		name
156093882	CV2382203	single nucleotide variant	NM_012324.6(MAPK8IP2):c.370C>T (p.Leu124Phe)	not specified [RCV004228154]	uncertain significance	22	50603421	50603421	Human		name
156387928	CV2383451	single nucleotide variant	NM_012324.6(MAPK8IP2):c.583G>A (p.Gly195Arg)	not specified [RCV004222469]	uncertain significance	22	50603882	50603882	Human		name
156054400	CV2388604	single nucleotide variant	NM_005456.4(MAPK8IP1):c.330G>C (p.Glu110Asp)	not specified [RCV004239488]	uncertain significance	11	45900260	45900260	Human		name
329377927	CV2436080	single nucleotide variant	NM_005456.4(MAPK8IP1):c.658C>G (p.Gln220Glu)	not specified [RCV004255297]	uncertain significance	11	45902425	45902425	Human		name
329388399	CV2437375	single nucleotide variant	NM_005456.4(MAPK8IP1):c.713G>A (p.Arg238His)	not specified [RCV004256245]	uncertain significance	11	45902480	45902480	Human		name
401780582	CV2674090	single nucleotide variant	NM_005456.4(MAPK8IP1):c.781C>T (p.His261Tyr)	not specified [RCV004295496]	uncertain significance	11	45902548	45902548	Human		name
401743440	CV2684705	single nucleotide variant	NM_005456.4(MAPK8IP1):c.934G>A (p.Asp312Asn)	not specified [RCV004293796]	uncertain significance	11	45902701	45902701	Human		name
401763083	CV2710434	single nucleotide variant	NM_005456.4(MAPK8IP1):c.464C>T (p.Thr155Met)	not specified [RCV004317588]	uncertain significance	11	45900394	45900394	Human		name
401866142	CV2775434	single nucleotide variant	NM_012324.6(MAPK8IP2):c.467G>A (p.Gly156Glu)	not specified [RCV004348830]	uncertain significance	22	50603645	50603645	Human		name
405811856	CV3285139	single nucleotide variant	NM_005456.4(MAPK8IP1):c.365C>T (p.Pro122Leu)	not specified [RCV004408675]	uncertain significance	11	45900295	45900295	Human		name
405811858	CV3285140	single nucleotide variant	NM_005456.4(MAPK8IP1):c.392C>G (p.Ser131Cys)	not specified [RCV004408676]	uncertain significance	11	45900322	45900322	Human		name
405811860	CV3285141	single nucleotide variant	NM_005456.4(MAPK8IP1):c.476A>G (p.Lys159Arg)	not specified [RCV004408677]	uncertain significance	11	45900406	45900406	Human		name
405811864	CV3285143	single nucleotide variant	NM_005456.4(MAPK8IP1):c.665G>A (p.Gly222Asp)	not specified [RCV004408679]	uncertain significance	11	45902432	45902432	Human		name
405811866	CV3285144	single nucleotide variant	NM_005456.4(MAPK8IP1):c.716G>A (p.Arg239His)	not specified [RCV004408680]	uncertain significance	11	45902483	45902483	Human		name
405811871	CV3285146	single nucleotide variant	NM_005456.4(MAPK8IP1):c.926T>C (p.Val309Ala)	not specified [RCV004408682]	uncertain significance	11	45902693	45902693	Human		name
405811886	CV3285153	single nucleotide variant	NM_012324.6(MAPK8IP2):c.413C>A (p.Pro138His)	not specified [RCV004408689]	uncertain significance	22	50603464	50603464	Human		name
405811888	CV3285154	single nucleotide variant	NM_012324.6(MAPK8IP2):c.475G>C (p.Asp159His)	not specified [RCV004408690]	uncertain significance	22	50603653	50603653	Human		name
405811889	CV3285155	single nucleotide variant	NM_012324.6(MAPK8IP2):c.485G>A (p.Arg162His)	not specified [RCV004408691]	uncertain significance	22	50603663	50603663	Human		name
407494517	CV3456802	single nucleotide variant	NM_005456.4(MAPK8IP1):c.614C>T (p.Thr205Ile)	not specified [RCV004643009]	uncertain significance	11	45902381	45902381	Human		name
407494522	CV3456803	single nucleotide variant	NM_005456.4(MAPK8IP1):c.611A>C (p.Gln204Pro)	not specified [RCV004643010]	uncertain significance	11	45902378	45902378	Human		name
407494526	CV3456804	single nucleotide variant	NM_005456.4(MAPK8IP1):c.653C>T (p.Pro218Leu)	not specified [RCV004643011]	uncertain significance	11	45902420	45902420	Human		name
407494530	CV3456805	single nucleotide variant	NM_005456.4(MAPK8IP1):c.829G>A (p.Ala277Thr)	not specified [RCV004643012]	uncertain significance	11	45902596	45902596	Human		name
407494543	CV3456809	single nucleotide variant	NM_005456.4(MAPK8IP1):c.785C>T (p.Ser262Leu)	not specified [RCV004643015]	uncertain significance	11	45902552	45902552	Human		name
597635510	CV3697394	single nucleotide variant	NM_005456.4(MAPK8IP1):c.712C>T (p.Arg238Cys)	not specified [RCV004940632]	uncertain significance	11	45902479	45902479	Human		name
597635524	CV3697397	single nucleotide variant	NM_005456.4(MAPK8IP1):c.493A>G (p.Asn165Asp)	not specified [RCV004940635]	uncertain significance	11	45900423	45900423	Human		name
597635530	CV3697398	single nucleotide variant	NM_005456.4(MAPK8IP1):c.398A>T (p.Gln133Leu)	not specified [RCV004940636]	uncertain significance	11	45900328	45900328	Human		name
597635535	CV3697399	single nucleotide variant	NM_005456.4(MAPK8IP1):c.767C>T (p.Pro256Leu)	not specified [RCV004940637]	uncertain significance	11	45902534	45902534	Human		name
597635843	CV3697401	single nucleotide variant	NM_005456.4(MAPK8IP1):c.869C>A (p.Pro290Gln)	not specified [RCV004940639]	uncertain significance	11	45902636	45902636	Human		name
597635556	CV3697403	single nucleotide variant	NM_005456.4(MAPK8IP1):c.349C>T (p.Arg117Cys)	not specified [RCV004940641]	uncertain significance	11	45900279	45900279	Human		name
597635571	CV3697406	single nucleotide variant	NM_012324.6(MAPK8IP2):c.424C>T (p.Arg142Cys)	not specified [RCV004940644]	uncertain significance	22	50603475	50603475	Human		name
598176634	CV3985353	single nucleotide variant	NM_005456.4(MAPK8IP1):c.892G>A (p.Ala298Thr)	not specified [RCV005371448]	uncertain significance	11	45902659	45902659	Human		name
598176655	CV3985360	single nucleotide variant	NM_005456.4(MAPK8IP1):c.542C>G (p.Ser181Cys)	not specified [RCV005371452]	uncertain significance	11	45901999	45901999	Human		name
598176660	CV3985361	single nucleotide variant	NM_005456.4(MAPK8IP1):c.502C>T (p.Pro168Ser)	not specified [RCV005371453]	uncertain significance	11	45900432	45900432	Human		name
598198310	CV3985362	single nucleotide variant	NM_012324.6(MAPK8IP2):c.433A>G (p.Thr145Ala)	not specified [RCV005375535]	uncertain significance	22	50603484	50603484	Human		name
598176668	CV3985363	single nucleotide variant	NM_012324.6(MAPK8IP2):c.314A>G (p.Asp105Gly)	not specified [RCV005371454]	uncertain significance	22	50603365	50603365	Human		name
598176675	CV3985364	single nucleotide variant	NM_012324.6(MAPK8IP2):c.331G>A (p.Gly111Arg)	not specified [RCV005371455]	uncertain significance	22	50603382	50603382	Human		name
617151572	CV4021839	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.150G>A (p.Glu50=)	not provided [RCV005426800]	likely benign	16	1706489	1706489	Human		name
14693850	CV620947	deletion	NM_001318852.2(MAPK8IP3):c.65del (p.Gly22fs)	Inborn genetic diseases [RCV001266058]\|Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV000779601]	pathogenic\|likely pathogenic	16	1706403	1706403	Human	2	name
40886541	CV973989	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.24G>T (p.Glu8Asp)	Inborn genetic diseases [RCV001265669]	uncertain significance	16	1706363	1706363	Human	1	name
150531648	CV1301981	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.47A>G (p.Gln16Arg)	not provided [RCV001757198]	uncertain significance	16	1706386	1706386	Human		name
153304649	CV1687199	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.489C>G (p.Ala163=)	not provided [RCV002262487]	likely benign	16	1729187	1729187	Human		name
153304653	CV1687201	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.828G>T (p.Thr276=)	not provided [RCV002262489]	likely benign	16	1747109	1747109	Human		name
156275422	CV2202744	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1201G>A (p.Gly401Arg)	not specified [RCV004082985]	uncertain significance	11	45902968	45902968	Human		name
156084208	CV2205573	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1090C>T (p.Arg364Trp)	not specified [RCV004082497]	uncertain significance	11	45902857	45902857	Human		name
156287763	CV2229668	single nucleotide variant	NM_012324.6(MAPK8IP2):c.2147C>T (p.Thr716Ile)	not specified [RCV004103477]	uncertain significance	22	50606680	50606680	Human		name
156131110	CV2235211	single nucleotide variant	NM_012324.6(MAPK8IP2):c.1259C>T (p.Pro420Leu)	not specified [RCV004107262]	uncertain significance	22	50604558	50604558	Human		name
156300942	CV2248900	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1081C>T (p.Pro361Ser)	not specified [RCV004115908]	uncertain significance	11	45902848	45902848	Human		name
156181146	CV2320763	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1238A>G (p.Tyr413Cys)	not specified [RCV004172601]	uncertain significance	11	45903005	45903005	Human		name
156269409	CV2326377	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1744G>A (p.Gly582Ser)	not specified [RCV004182954]	uncertain significance	11	45904532	45904532	Human		name
156264235	CV2329427	single nucleotide variant	NM_012324.6(MAPK8IP2):c.2129C>T (p.Ala710Val)	not specified [RCV004187433]	uncertain significance	22	50606662	50606662	Human		name
155960427	CV2390690	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1360G>A (p.Val454Ile)	not specified [RCV004239204]	uncertain significance	11	45903127	45903127	Human		name
329374402	CV2443885	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1703G>A (p.Arg568Gln)	not specified [RCV004258221]	uncertain significance	11	45904491	45904491	Human		name
329391319	CV2452237	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1117G>A (p.Ala373Thr)	not specified [RCV004278932]	uncertain significance	11	45902884	45902884	Human		name
401761525	CV2702375	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1237T>C (p.Tyr413His)	not specified [RCV004316901]	uncertain significance	11	45903004	45903004	Human		name
401751553	CV2727041	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1909C>T (p.His637Tyr)	not specified [RCV004325418]	uncertain significance	11	45904986	45904986	Human		name
401877620	CV2761230	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1190G>A (p.Arg397Gln)	not specified [RCV004341108]	uncertain significance	11	45902957	45902957	Human		name
401890060	CV2762114	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1402C>T (p.Arg468Cys)	not specified [RCV004341930]	uncertain significance	11	45903169	45903169	Human		name
405811841	CV3285132	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1019C>T (p.Ser340Leu)	not specified [RCV004408668]	uncertain significance	11	45902786	45902786	Human		name
405811843	CV3285133	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1064G>C (p.Ser355Thr)	not specified [RCV004408669]	uncertain significance	11	45902831	45902831	Human		name
405811847	CV3285135	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1262C>T (p.Ser421Leu)	not specified [RCV004408671]	uncertain significance	11	45903029	45903029	Human		name
405811851	CV3285137	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1636G>A (p.Glu546Lys)	not specified [RCV004408673]	uncertain significance	11	45904131	45904131	Human		name
405811853	CV3285138	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1702C>T (p.Arg568Trp)	not specified [RCV004408674]	uncertain significance	11	45904490	45904490	Human		name
405811875	CV3285148	single nucleotide variant	NM_012324.6(MAPK8IP2):c.2330C>G (p.Pro777Arg)	not specified [RCV004408684]	uncertain significance	22	50610238	50610238	Human		name
405811877	CV3285149	single nucleotide variant	NM_012324.6(MAPK8IP2):c.2330C>T (p.Pro777Leu)	not specified [RCV004408685]	uncertain significance	22	50610238	50610238	Human		name
405811881	CV3285151	single nucleotide variant	NM_012324.6(MAPK8IP2):c.2433C>G (p.His811Gln)	not specified [RCV004408687]	uncertain significance	22	50610737	50610737	Human		name
407494539	CV3456808	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1847G>A (p.Arg616Gln)	not specified [RCV004643014]	uncertain significance	11	45904788	45904788	Human		name
407494572	CV3456819	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.62C>A (p.Ser21Tyr)	Inborn genetic diseases [RCV004643023]	uncertain significance	16	1706401	1706401	Human	1	name
407476487	CV3494908	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.48G>C (p.Gln16His)	not specified [RCV004690809]	uncertain significance	16	1706387	1706387	Human		name
597635514	CV3697395	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1189C>T (p.Arg397Trp)	not specified [RCV004940633]	uncertain significance	11	45902956	45902956	Human		name
597635519	CV3697396	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1204G>A (p.Asp402Asn)	not specified [RCV004940634]	uncertain significance	11	45902971	45902971	Human		name
597635540	CV3697400	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1274C>T (p.Ser425Leu)	not specified [RCV004940638]	uncertain significance	11	45903041	45903041	Human		name
597635551	CV3697402	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1057C>T (p.Arg353Trp)	not specified [RCV004940640]	uncertain significance	11	45902824	45902824	Human		name
597635561	CV3697404	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1879T>G (p.Ser627Ala)	not specified [RCV004940642]	uncertain significance	11	45904820	45904820	Human		name
597688007	CV3697423	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.399G>A (p.Thr133=)	Inborn genetic diseases [RCV004984348]	likely benign	16	1724637	1724637	Human	1	name
598176639	CV3985357	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1860A>G (p.Ile620Met)	not specified [RCV005371449]	uncertain significance	11	45904801	45904801	Human		name
598176650	CV3985359	single nucleotide variant	NM_005456.4(MAPK8IP1):c.2075A>T (p.Gln692Leu)	not specified [RCV005371451]	uncertain significance	11	45905660	45905660	Human		name
15177202	CV737982	single nucleotide variant	NM_005456.4(MAPK8IP1):c.1058G>A (p.Arg353Gln)	not provided [RCV000906597]	benign	11	45902825	45902825	Human		name
21070910	CV794181	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.79G>T (p.Glu27Ter)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV000993678]	likely pathogenic	16	1706418	1706418	Human	1	name
8626995	CV82139	single nucleotide variant	NM_005456.3(MAPK8IP1):c.1395G>T (p.Met465Ile)	Malignant melanoma [RCV000062218]	not provided	11	45903162	45903162	Human		name
126914608	CV1038064	microsatellite	NM_005456.4(MAPK8IP1):c.236GCG[5] (p.Gly82dup)	not provided [RCV001358401]	uncertain significance	11	45900164	45900165	Human		name
126911122	CV1038384	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1383C>T (p.Gly461=)	not provided [RCV001355048]	likely benign	16	1760458	1760458	Human		name
151716899	CV1334790	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.235G>A (p.Glu79Lys)	Developmental disorder [RCV001843746]	uncertain significance	16	1706574	1706574	Human	1	name
152080583	CV1666985	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2724C>T (p.Ser908=)	not provided [RCV002211330]	likely benign	16	1766314	1766314	Human		name
401950134	CV1666987	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2886G>A (p.Thr962=)	not provided [RCV002211332]	likely benign	16	1766595	1766595	Human		name
153304658	CV1687204	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2472C>T (p.Pro824=)	not provided [RCV002262492]	benign\|likely benign	16	1765985	1765985	Human		name
329847163	CV2534322	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.213C>A (p.Ser71Arg)	not provided [RCV003228531]	uncertain significance	16	1706552	1706552	Human		name
401798526	CV2740808	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.167T>A (p.Met56Lys)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003321468]	likely pathogenic	16	1706506	1706506	Human	1	name
401904705	CV2810795	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1074C>G (p.Thr358=)	not provided [RCV003395187]	likely benign	16	1748323	1748323	Human		name
401930201	CV2810796	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1359C>T (p.Ser453=)	not provided [RCV003390608]	likely benign	16	1760434	1760434	Human		name
401904707	CV2810797	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1419G>A (p.Leu473=)	not provided [RCV003395188]	likely benign	16	1760494	1760494	Human		name
401930203	CV2810798	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1506G>A (p.Ala502=)	not provided [RCV003390609]	likely benign	16	1761272	1761272	Human		name
401904710	CV2810799	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1575G>A (p.Thr525=)	not provided [RCV003395189]	benign	16	1762386	1762386	Human		name
401904716	CV2810803	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1974C>T (p.Asp658=)	not provided [RCV003395192]	likely benign	16	1763732	1763732	Human		name
401904719	CV2810805	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2115C>T (p.Thr705=)	not provided [RCV003395194]	likely benign	16	1764204	1764204	Human		name
401930207	CV2810807	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2445C>G (p.Pro815=)	not provided [RCV003390611]	likely benign	16	1765177	1765177	Human		name
401904723	CV2810808	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2496C>T (p.Asp832=)	not provided [RCV003395196]	likely benign	16	1766009	1766009	Human		name
401904729	CV2810811	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2949G>A (p.Val983=)	not provided [RCV003395199]	likely benign	16	1766732	1766732	Human		name
405267853	CV3186922	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2151C>T (p.Ser717=)	not provided [RCV003887005]	likely benign	16	1764330	1764330	Human		name
405695165	CV3226596	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2952C>T (p.His984=)	not provided [RCV003992989]	likely benign	16	1766735	1766735	Human		name
405695651	CV3226659	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2577G>A (p.Pro859=)	not provided [RCV003993052]	likely benign	16	1766090	1766090	Human		name
407469209	CV3456821	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.295G>T (p.Ala99Ser)	Inborn genetic diseases [RCV004636547]	uncertain significance	16	1706634	1706634	Human	1	name
408379350	CV3501020	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1764T>A (p.Pro588=)	not provided [RCV004722670]	likely benign	16	1762872	1762872	Human		name
596945395	CV3547892	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1401G>A (p.Lys467=)	not provided [RCV004809223]	likely benign	16	1760476	1760476	Human		name
596940250	CV3550852	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.142G>A (p.Asp48Asn)	not provided [RCV004814752]	uncertain significance	16	1706481	1706481	Human		name
598223469	CV3894007	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2517C>T (p.Gly839=)	not provided [RCV005257250]	likely benign	16	1766030	1766030	Human		name
34889399	CV904941	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.281A>G (p.Tyr94Cys)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001172334]	likely pathogenic	16	1706620	1706620	Human	1	name
126743321	CV1018037	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.685C>T (p.Pro229Ser)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001330174]	uncertain significance	16	1743414	1743414	Human	1	name
126918851	CV1049388	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.584G>A (p.Ser195Asn)	not provided [RCV001372898]	uncertain significance	16	1729560	1729560	Human		name
150534602	CV1300666	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.388G>A (p.Glu130Lys)	not provided [RCV001758794]	uncertain significance	16	1724626	1724626	Human		name
151234684	CV1320412	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.464C>G (p.Ser155Trp)	not provided [RCV001800036]	uncertain significance	16	1729162	1729162	Human		name
151663491	CV1333987	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.833C>T (p.Thr278Ile)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001839161]	uncertain significance	16	1747114	1747114	Human	1	name
153304655	CV1687202	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.901G>A (p.Val301Met)	not provided [RCV002262490]	likely benign	16	1747182	1747182	Human		name
153345883	CV1690851	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.482A>T (p.Tyr161Phe)	not specified [RCV002271750]	uncertain significance	16	1729180	1729180	Human		name
155798918	CV1862235	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.499C>T (p.Arg167Trp)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV002471639]	uncertain significance	16	1729197	1729197	Human	1	name
156259331	CV2274108	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.670G>A (p.Gly224Arg)	Inborn genetic diseases [RCV002831611]	uncertain significance	16	1743399	1743399	Human	1	name
155990749	CV2372089	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.678G>C (p.Lys226Asn)	Inborn genetic diseases [RCV002689193]	uncertain significance	16	1743407	1743407	Human	1	name
156347737	CV2375543	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.649G>A (p.Gly217Ser)	Inborn genetic diseases [RCV002719919]	uncertain significance	16	1743378	1743378	Human	1	name
156149928	CV2377439	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.563G>C (p.Gly188Ala)	Inborn genetic diseases [RCV002709597]	uncertain significance	16	1729539	1729539	Human	1	name
156222850	CV2399848	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.552G>T (p.Met184Ile)	Inborn genetic diseases [RCV002804845]	uncertain significance	16	1729528	1729528	Human	1	name
329374549	CV2430937	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.940G>A (p.Asp314Asn)	Inborn genetic diseases [RCV003173481]	likely benign	16	1747221	1747221	Human	1	name
401729544	CV2683716	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.923G>A (p.Arg308His)	Inborn genetic diseases [RCV003247844]	uncertain significance	16	1747204	1747204	Human	1	name
401733688	CV2691377	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.791C>T (p.Ala264Val)	Inborn genetic diseases [RCV003290551]	uncertain significance	16	1747072	1747072	Human	1	name
401725419	CV2735879	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3897C>T (p.Asp1299=)	not provided [RCV003312322]	likely benign	16	1768707	1768707	Human		name
401733671	CV2736883	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.374A>G (p.Gln125Arg)	not provided [RCV003313645]	uncertain significance	16	1724612	1724612	Human		name
401829347	CV2743754	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3939C>T (p.Ser1313=)	not provided [RCV003326930]	likely benign	16	1768749	1768749	Human		name
401830038	CV2747640	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.710G>A (p.Ser237Asn)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003329199]	uncertain significance	16	1743439	1743439	Human	1	name
401856596	CV2752585	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.401G>A (p.Arg134His)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003340923]	uncertain significance	16	1724639	1724639	Human	1	name
401855702	CV2753120	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.923G>T (p.Arg308Leu)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003338176]	uncertain significance	16	1747204	1747204	Human	1	name
401904702	CV2810793	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.856G>A (p.Val286Ile)	not provided [RCV003395185]	likely benign	16	1747137	1747137	Human		name
401904735	CV2810815	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3180G>A (p.Val1060=)	not provided [RCV003395202]	likely benign	16	1767240	1767240	Human		name
401904742	CV2810818	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3528G>T (p.Val1176=)	not provided [RCV003395205]	likely benign	16	1768073	1768073	Human		name
401930213	CV2810825	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3960C>T (p.Ser1320=)	not provided [RCV003390614]	likely benign	16	1768770	1768770	Human		name
401905327	CV2831432	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.580G>A (p.Glu194Lys)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003444424]	uncertain significance	16	1729556	1729556	Human	1	name
401943643	CV2840122	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.551T>C (p.Met184Thr)	not provided [RCV003456907]	uncertain significance	16	1729527	1729527	Human		name
405261064	CV3186040	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3864C>T (p.Gly1288=)	not provided [RCV003885116]	likely benign	16	1768598	1768598	Human		name
405811920	CV3285169	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.653C>G (p.Thr218Arg)	Inborn genetic diseases [RCV004408705]	likely benign	16	1743382	1743382	Human	1	name
405811923	CV3285170	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.656T>C (p.Val219Ala)	Inborn genetic diseases [RCV004408706]	uncertain significance	16	1743385	1743385	Human	1	name
407425668	CV3409551	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3375C>T (p.Asp1125=)	not provided [RCV004585483]	likely benign	16	1767701	1767701	Human		name
407456984	CV3416022	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3171C>T (p.Tyr1057=)	not provided [RCV004598899]	likely benign	16	1767231	1767231	Human		name
407469206	CV3456812	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3021G>A (p.Val1007=)	Inborn genetic diseases [RCV004636546]	likely benign	16	1766904	1766904	Human	1	name
407494551	CV3456813	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.632T>C (p.Val211Ala)	Inborn genetic diseases [RCV004643017]\|Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV004784214]	uncertain significance	16	1743361	1743361	Human	2	name
407494558	CV3456815	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.938G>A (p.Arg313His)	Inborn genetic diseases [RCV004643019]	uncertain significance	16	1747219	1747219	Human	1	name
407494565	CV3456817	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.929G>A (p.Arg310Gln)	Inborn genetic diseases [RCV004643021]	likely benign	16	1747210	1747210	Human	1	name
408370130	CV3502997	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.871G>A (p.Glu291Lys)	not provided [RCV004724118]	uncertain significance	16	1747152	1747152	Human		name
408386733	CV3518515	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.435T>G (p.Asp145Glu)	not provided [RCV004760833]	uncertain significance	16	1724673	1724673	Human		name
596929157	CV3540838	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.442T>C (p.Ser148Pro)	not provided [RCV004795167]	uncertain significance	16	1729140	1729140	Human		name
596945018	CV3543675	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.716T>A (p.Leu239His)	not provided [RCV004801797]	uncertain significance	16	1743445	1743445	Human		name
596945467	CV3547923	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.950A>G (p.Asn317Ser)	not provided [RCV004809254]	likely benign	16	1747231	1747231	Human		name
597656027	CV3552317	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.922C>T (p.Arg308Cys)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV004821175]	uncertain significance	16	1747203	1747203	Human	1	name
597656739	CV3552337	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.928C>T (p.Arg310Trp)	Inborn genetic diseases [RCV005377678]\|Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV004821195]	uncertain significance	16	1747209	1747209	Human	2	name
597687910	CV3697407	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.428A>G (p.Tyr143Cys)	Inborn genetic diseases [RCV004984334]	uncertain significance	16	1724666	1724666	Human	1	name
597687926	CV3697409	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.937C>T (p.Arg313Cys)	Inborn genetic diseases [RCV004984336]	uncertain significance	16	1747218	1747218	Human	1	name
597688013	CV3697424	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.646G>A (p.Asp216Asn)	Inborn genetic diseases [RCV004984349]	uncertain significance	16	1743375	1743375	Human	1	name
597766819	CV3708114	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.697C>T (p.His233Tyr)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV005019779]	uncertain significance	16	1743426	1743426	Human	1	name
597855072	CV3762637	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.614G>A (p.Arg205His)	not specified [RCV005088555]	uncertain significance	16	1743343	1743343	Human		name
598127935	CV3888384	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3807T>C (p.Ala1269=)	not provided [RCV005243070]	likely benign	16	1768541	1768541	Human		name
598158989	CV3897003	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.514A>G (p.Ile172Val)	not provided [RCV005367977]	uncertain significance	16	1729490	1729490	Human		name
598198406	CV3985385	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.659G>A (p.Arg220His)	Inborn genetic diseases [RCV005375551]	uncertain significance	16	1743388	1743388	Human	1	name
616933515	CV4011548	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3813T>C (p.Pro1271=)	not specified [RCV005407629]	likely benign	16	1768547	1768547	Human		name
21074704	CV797267	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3303C>G (p.Gly1101=)	not provided [RCV000995465]	uncertain significance	16	1767629	1767629	Human		name
126743317	CV1018038	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1012G>A (p.Glu338Lys)	Inborn genetic diseases [RCV004987083]\|Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001330173]	uncertain significance	16	1748261	1748261	Human	2	name
126912410	CV1038383	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1370A>C (p.Glu457Ala)	not provided [RCV001356504]	uncertain significance	16	1760445	1760445	Human		name
150528804	CV1288505	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1780T>A (p.Tyr594Asn)	Inborn genetic diseases [RCV002539761]\|not provided [RCV001726973]	likely benign\|uncertain significance	16	1762888	1762888	Human	1	name
150528806	CV1288506	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2830C>T (p.Pro944Ser)	not provided [RCV001726974]	uncertain significance	16	1766539	1766539	Human		name
150551683	CV1297509	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2972A>G (p.Lys991Arg)	not provided [RCV001767193]	uncertain significance	16	1766755	1766755	Human		name
150528303	CV1301831	deletion	NM_001318852.2(MAPK8IP3):c.4008del (p.Glu1337fs)	not provided [RCV001755203]	uncertain significance	16	1768814	1768814	Human		name
150545677	CV1315845	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1427G>A (p.Arg476His)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001784176]	uncertain significance	16	1760502	1760502	Human	1	name
151235801	CV1319196	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2250G>T (p.Lys750Asn)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001797015]	uncertain significance	16	1764429	1764429	Human	1	name
151350438	CV1325586	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1972G>A (p.Asp658Asn)	not provided [RCV001814873]	uncertain significance	16	1763730	1763730	Human		name
152080576	CV1666984	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2599G>A (p.Gly867Arg)	not provided [RCV002211329]	uncertain significance	16	1766112	1766112	Human		name
152080588	CV1666986	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2752G>A (p.Gly918Arg)	Inborn genetic diseases [RCV003101232]\|not provided [RCV002211331]	likely benign	16	1766342	1766342	Human	1	name
152042152	CV1669965	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1390G>C (p.Glu464Gln)	not provided [RCV002224867]	uncertain significance	16	1760465	1760465	Human		name
152978323	CV1671515	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1163C>T (p.Ser388Leu)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV002227620]	uncertain significance	16	1748667	1748667	Human	1	name
152978360	CV1671549	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2811G>C (p.Gln937His)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV002227654]	uncertain significance	16	1766401	1766401	Human	1	name
152979279	CV1675454	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1828A>G (p.Ser610Gly)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV002243565]	uncertain significance	16	1762936	1762936	Human	1	name
152999771	CV1683332	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1384G>A (p.Glu462Lys)	See cases [RCV002252516]	uncertain significance	16	1760459	1760459	Human		name
153001166	CV1684067	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1567C>T (p.Arg523Cys)	not provided [RCV002254994]	uncertain significance	16	1762378	1762378	Human		name
153304657	CV1687203	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1678C>T (p.Arg560Ter)	not provided [RCV002262491]	uncertain significance	16	1762682	1762682	Human		name
153302003	CV1688018	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1951G>A (p.Val651Met)	not provided [RCV002265244]	uncertain significance	16	1763709	1763709	Human		name
153345881	CV1690850	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1816A>G (p.Thr606Ala)	not specified [RCV002271749]	uncertain significance	16	1762924	1762924	Human		name
153348661	CV1692705	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2067C>G (p.Asn689Lys)	not provided [RCV002274561]	uncertain significance	16	1764156	1764156	Human		name
155643230	CV1706612	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1406C>G (p.Ala469Gly)	See cases [RCV004584504]	uncertain significance	16	1760481	1760481	Human		name
155643447	CV1706731	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1936G>A (p.Glu646Lys)	See cases [RCV002287806]	uncertain significance	16	1763694	1763694	Human		name
155645958	CV1709316	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2218A>T (p.Thr740Ser)	not provided [RCV002292192]	uncertain significance	16	1764397	1764397	Human		name
155734606	CV1781166	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1682A>C (p.Glu561Ala)	not provided [RCV002308955]	uncertain significance	16	1762686	1762686	Human		name
156168331	CV1866981	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2057G>A (p.Arg686Gln)	not provided [RCV002508533]	uncertain significance	16	1764146	1764146	Human		name
155959184	CV2193767	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1676C>G (p.Ser559Cys)	Inborn genetic diseases [RCV002686445]	uncertain significance	16	1762680	1762680	Human	1	name
156399227	CV2204992	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2293C>T (p.Pro765Ser)	Inborn genetic diseases [RCV002655931]	uncertain significance	16	1765025	1765025	Human	1	name
156220964	CV2222430	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1673C>T (p.Ala558Val)	Inborn genetic diseases [RCV002767033]	uncertain significance	16	1762677	1762677	Human	1	name
156072803	CV2251512	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2885C>T (p.Thr962Met)	Inborn genetic diseases [RCV002783268]	uncertain significance	16	1766594	1766594	Human	1	name
155976011	CV2270134	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2523T>G (p.Asp841Glu)	Inborn genetic diseases [RCV002818142]	uncertain significance	16	1766036	1766036	Human	1	name
155964758	CV2282875	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2566T>A (p.Cys856Ser)	Inborn genetic diseases [RCV002841654]	uncertain significance	16	1766079	1766079	Human	1	name
156061945	CV2323210	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1597C>T (p.Leu533Phe)	Inborn genetic diseases [RCV002950734]	uncertain significance	16	1762408	1762408	Human	1	name
156005476	CV2357666	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2249A>G (p.Lys750Arg)	Inborn genetic diseases [RCV002997344]	uncertain significance	16	1764428	1764428	Human	1	name
156306628	CV2360010	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1057G>C (p.Asp353His)	Inborn genetic diseases [RCV003010778]	uncertain significance	16	1748306	1748306	Human	1	name
156348228	CV2383065	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2368G>A (p.Asp790Asn)	Inborn genetic diseases [RCV002675306]	likely benign	16	1765100	1765100	Human	1	name
156111253	CV2387773	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2795C>T (p.Pro932Leu)	Inborn genetic diseases [RCV002739730]	uncertain significance	16	1766385	1766385	Human	1	name
156439925	CV2401607	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2659G>A (p.Val887Ile)	not provided [RCV003109895]	uncertain significance	16	1766249	1766249	Human		name
243062466	CV2404911	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2221T>C (p.Cys741Arg)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003225788]	conflicting interpretations of pathogenicity\|uncertain significance	16	1764400	1764400	Human	1	name
243063983	CV2413268	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2261C>T (p.Thr754Met)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003142619]\|not specified [RCV003988086]	uncertain significance	16	1764440	1764440	Human	1	name
243054267	CV2413269	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1207G>A (p.Asp403Asn)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003131549]	uncertain significance	16	1748711	1748711	Human	1	name
243056033	CV2413273	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2647G>A (p.Ala883Thr)	Inborn genetic diseases [RCV004246017]\|Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003132592]	uncertain significance	16	1766237	1766237	Human	2	name
243054270	CV2413274	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1762C>T (p.Pro588Ser)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003131551]	uncertain significance	16	1762870	1762870	Human	1	name
243056035	CV2413275	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1166C>T (p.Thr389Met)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003132593]	uncertain significance	16	1748670	1748670	Human	1	name
243050217	CV2415420	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2324G>A (p.Trp775Ter)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003147952]	uncertain significance	16	1765056	1765056	Human	1	name
243051568	CV2415952	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1363G>T (p.Glu455Ter)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003148576]	pathogenic	16	1760438	1760438	Human	1	name
243049971	CV2417283	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2991C>G (p.Ile997Met)	not provided [RCV003152155]	uncertain significance	16	1766774	1766774	Human		name
329382353	CV2424441	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2455G>A (p.Asp819Asn)	Inborn genetic diseases [RCV003188447]	uncertain significance	16	1765968	1765968	Human	1	name
329361320	CV2436894	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2875G>A (p.Gly959Arg)	Inborn genetic diseases [RCV003180341]	likely benign	16	1766584	1766584	Human	1	name
329399066	CV2439331	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1899C>A (p.Asp633Glu)	Inborn genetic diseases [RCV003196447]\|Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003340666]	likely benign\|uncertain significance	16	1763657	1763657	Human	2	name
329400938	CV2445897	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1783C>G (p.Pro595Ala)	Inborn genetic diseases [RCV003197941]	uncertain significance	16	1762891	1762891	Human	1	name
329358304	CV2450260	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2860G>A (p.Glu954Lys)	Inborn genetic diseases [RCV003203985]	uncertain significance	16	1766569	1766569	Human	1	name
329848634	CV2523381	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2941C>T (p.Leu981Phe)	not provided [RCV003225395]	uncertain significance	16	1766724	1766724	Human		name
329848650	CV2523397	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2992A>C (p.Lys998Gln)	not provided [RCV003225411]	uncertain significance	16	1766775	1766775	Human		name
329952829	CV2670178	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2240G>A (p.Gly747Asp)	not provided [RCV003233388]	uncertain significance	16	1764419	1764419	Human		name
329952327	CV2671676	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1600A>G (p.Met534Val)	not provided [RCV003237072]	uncertain significance	16	1762411	1762411	Human		name
401769931	CV2710744	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2111C>A (p.Pro704His)	Inborn genetic diseases [RCV003260823]	uncertain significance	16	1764200	1764200	Human	1	name
401733324	CV2736834	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1690T>A (p.Ser564Thr)	not provided [RCV003313596]	uncertain significance	16	1762694	1762694	Human		name
401734171	CV2736961	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1219G>T (p.Glu407Ter)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003313721]	not provided	16	1758150	1758150	Human		name
401739593	CV2738601	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2578C>T (p.Arg860Trp)	not provided [RCV003317995]	uncertain significance	16	1766091	1766091	Human		name
401828784	CV2743119	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1891C>T (p.Pro631Ser)	not provided [RCV003325828]	uncertain significance	16	1762999	1762999	Human		name
401875944	CV2750148	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1386G>C (p.Glu462Asp)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003333591]	uncertain significance	16	1760461	1760461	Human	1	name
401892923	CV2758227	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2579G>A (p.Arg860Gln)	Inborn genetic diseases [RCV003355966]	uncertain significance	16	1766092	1766092	Human	1	name
401889738	CV2758423	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2564G>A (p.Arg855His)	Inborn genetic diseases [RCV003368581]	uncertain significance	16	1766077	1766077	Human	1	name
401878067	CV2760222	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2842A>G (p.Ser948Gly)	Inborn genetic diseases [RCV003363754]	likely benign	16	1766551	1766551	Human	1	name
401865735	CV2778969	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2968T>C (p.Trp990Arg)	Inborn genetic diseases [RCV003359790]	uncertain significance	16	1766751	1766751	Human	1	name
401877556	CV2790211	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1141G>A (p.Asp381Asn)	Inborn genetic diseases [RCV003383803]	uncertain significance	16	1748645	1748645	Human	1	name
401904711	CV2810800	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1775G>A (p.Arg592His)	not provided [RCV003395190]	likely benign	16	1762883	1762883	Human		name
401930205	CV2810801	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1793A>G (p.Asn598Ser)	not provided [RCV003390610]	uncertain significance	16	1762901	1762901	Human		name
401904717	CV2810804	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2111C>T (p.Pro704Leu)	not provided [RCV003395193]	uncertain significance	16	1764200	1764200	Human		name
401904720	CV2810806	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2159G>A (p.Arg720Lys)	not provided [RCV003395195]	likely benign	16	1764338	1764338	Human		name
401904725	CV2810809	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2747G>A (p.Arg916Gln)	Inborn genetic diseases [RCV005377374]\|not provided [RCV003395197]	likely benign	16	1766337	1766337	Human	1	name
401904726	CV2810810	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2826C>A (p.Asn942Lys)	not provided [RCV003395198]	benign	16	1766535	1766535	Human		name
401946419	CV2839738	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1499A>G (p.Glu500Gly)	Inborn genetic diseases [RCV004985368]\|Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003459018]	uncertain significance	16	1761265	1761265	Human	2	name
404999121	CV2850436	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2744T>C (p.Leu915Ser)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003493069]	uncertain significance	16	1766334	1766334	Human	1	name
405261611	CV3186211	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1762C>G (p.Pro588Ala)	Inborn genetic diseases [RCV004987139]\|not provided [RCV003885287]	likely benign	16	1762870	1762870	Human	1	name
405811891	CV3285156	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1871G>A (p.Ser624Asn)	Inborn genetic diseases [RCV004408692]	uncertain significance	16	1762979	1762979	Human	1	name
405811893	CV3285157	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2198C>T (p.Ala733Val)	Inborn genetic diseases [RCV004408693]	likely benign	16	1764377	1764377	Human	1	name
405811896	CV3285158	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2252G>C (p.Ser751Thr)	Inborn genetic diseases [RCV004408694]\|not provided [RCV004810677]	likely benign	16	1764431	1764431	Human	1	name
405811898	CV3285159	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2300T>C (p.Met767Thr)	Inborn genetic diseases [RCV004408695]	likely benign	16	1765032	1765032	Human	1	name
405811900	CV3285160	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2306C>G (p.Ala769Gly)	Inborn genetic diseases [RCV004408696]	uncertain significance	16	1765038	1765038	Human	1	name
405811902	CV3285161	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2426T>C (p.Leu809Pro)	Inborn genetic diseases [RCV004408697]	uncertain significance	16	1765158	1765158	Human	1	name
405855211	CV3393973	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2906C>T (p.Ala969Val)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV004547199]	uncertain significance	16	1766615	1766615	Human	1	name
407426535	CV3409994	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2035A>G (p.Asn679Asp)	not provided [RCV004585926]	uncertain significance	16	1764124	1764124	Human		name
407494554	CV3456814	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1982G>A (p.Arg661His)	Inborn genetic diseases [RCV004643018]	uncertain significance	16	1763740	1763740	Human	1	name
407494569	CV3456818	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2596C>T (p.Arg866Ter)	Inborn genetic diseases [RCV004643022]	uncertain significance	16	1766109	1766109	Human	1	name
407494579	CV3456822	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1466C>G (p.Ser489Cys)	Inborn genetic diseases [RCV004643025]	uncertain significance	16	1761232	1761232	Human	1	name
408367684	CV3500253	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2152G>T (p.Gly718Trp)	not provided [RCV004722296]	uncertain significance	16	1764331	1764331	Human		name
408379516	CV3501041	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2914A>G (p.Met972Val)	not provided [RCV004722691]	uncertain significance	16	1766623	1766623	Human		name
408381026	CV3501371	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2212C>T (p.Pro738Ser)	not provided [RCV004727460]	uncertain significance	16	1764391	1764391	Human		name
408368731	CV3502646	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1861T>C (p.Ser621Pro)	not provided [RCV004723767]	uncertain significance	16	1762969	1762969	Human		name
408370345	CV3503036	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1261G>A (p.Val421Met)	not provided [RCV004724157]	uncertain significance	16	1759972	1759972	Human		name
408388599	CV3522734	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1919G>C (p.Arg640Pro)	not provided [RCV004769115]	uncertain significance	16	1763677	1763677	Human		name
408391782	CV3523404	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1918C>A (p.Arg640Ser)	not provided [RCV004770778]	uncertain significance	16	1763676	1763676	Human		name
408386951	CV3524312	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2611G>A (p.Val871Met)	not provided [RCV004768186]	uncertain significance	16	1766124	1766124	Human		name
408383779	CV3525836	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1402C>T (p.Gln468Ter)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV004766746]	pathogenic	16	1760477	1760477	Human	1	name
408393989	CV3526316	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2222G>A (p.Cys741Tyr)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV004771748]	uncertain significance	16	1764401	1764401	Human	1	name
408384020	CV3526853	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2827G>C (p.Gly943Arg)	not provided [RCV004772166]	uncertain significance	16	1766536	1766536	Human		name
408391116	CV3527892	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1396G>A (p.Ala466Thr)	not provided [RCV004775163]	uncertain significance	16	1760471	1760471	Human		name
596923389	CV3530373	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1513G>A (p.Val505Ile)	not provided [RCV004776972]	uncertain significance	16	1761279	1761279	Human		name
596931277	CV3531612	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1583A>G (p.Glu528Gly)	not provided [RCV004781174]	uncertain significance	16	1762394	1762394	Human		name
596931408	CV3531744	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2129G>A (p.Cys710Tyr)	not provided [RCV004781306]	uncertain significance	16	1764308	1764308	Human		name
596927476	CV3536719	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1552A>G (p.Met518Val)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV004790129]	uncertain significance	16	1762363	1762363	Human	1	name
596924860	CV3536776	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1733G>C (p.Ser578Thr)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV004785770]	uncertain significance	16	1762841	1762841	Human	1	name
596922372	CV3537147	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2074G>A (p.Val692Met)	not provided [RCV004786143]	uncertain significance	16	1764163	1764163	Human		name
596923003	CV3537507	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1066C>T (p.Pro356Ser)	not provided [RCV004787477]	uncertain significance	16	1748315	1748315	Human		name
596928863	CV3540590	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2985C>A (p.His995Gln)	not provided [RCV004794918]	uncertain significance	16	1766768	1766768	Human		name
596943267	CV3542789	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1867G>A (p.Gly623Ser)	not provided [RCV004798373]	uncertain significance	16	1762975	1762975	Human		name
596945397	CV3547894	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2650A>G (p.Asn884Asp)	not provided [RCV004809225]	uncertain significance	16	1766240	1766240	Human		name
597633096	CV3552946	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2390T>G (p.Val797Gly)	not provided [RCV004823776]	uncertain significance	16	1765122	1765122	Human		name
597687919	CV3697408	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1084C>T (p.Arg362Cys)	Inborn genetic diseases [RCV004984335]	uncertain significance	16	1748333	1748333	Human	1	name
597687934	CV3697410	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1232G>A (p.Arg411His)	Inborn genetic diseases [RCV004984337]	uncertain significance	16	1758981	1758981	Human	1	name
597687951	CV3697413	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2429G>A (p.Cys810Tyr)	Inborn genetic diseases [RCV004984339]	uncertain significance	16	1765161	1765161	Human	1	name
597687957	CV3697414	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2789C>T (p.Pro930Leu)	Inborn genetic diseases [RCV004984340]	uncertain significance	16	1766379	1766379	Human	1	name
597687964	CV3697415	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2318G>A (p.Arg773Gln)	Inborn genetic diseases [RCV004984341]	uncertain significance	16	1765050	1765050	Human	1	name
597687970	CV3697416	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2854C>T (p.Arg952Trp)	Inborn genetic diseases [RCV004984342]	uncertain significance	16	1766563	1766563	Human	1	name
597687976	CV3697417	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2387C>T (p.Thr796Met)	Inborn genetic diseases [RCV004984343]	uncertain significance	16	1765119	1765119	Human	1	name
597687980	CV3697418	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2282C>G (p.Ala761Gly)	Inborn genetic diseases [RCV004984344]	uncertain significance	16	1765014	1765014	Human	1	name
597687993	CV3697420	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1931A>G (p.Lys644Arg)	Inborn genetic diseases [RCV004984346]	uncertain significance	16	1763689	1763689	Human	1	name
597688002	CV3697422	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2647G>C (p.Ala883Pro)	Inborn genetic diseases [RCV004984347]	uncertain significance	16	1766237	1766237	Human	1	name
597741698	CV3708115	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2230G>A (p.Glu744Lys)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV005013882]	uncertain significance	16	1764409	1764409	Human	1	name
597719258	CV3733493	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1960C>A (p.His654Asn)	not provided [RCV005052683]	uncertain significance	16	1763718	1763718	Human		name
597834217	CV3735784	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1379G>A (p.Arg460Lys)	not provided [RCV005063647]	uncertain significance	16	1760454	1760454	Human		name
597831559	CV3863850	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2896A>G (p.Ser966Gly)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV005208264]	uncertain significance	16	1766605	1766605	Human	1	name
598126485	CV3881934	duplication	NM_001318852.2(MAPK8IP3):c.3234dup (p.Glu1079fs)	not provided [RCV005233486]	uncertain significance	16	1767293	1767294	Human		name
598126693	CV3882148	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1219G>A (p.Glu407Lys)	not provided [RCV005233699]	uncertain significance	16	1758150	1758150	Human		name
598127314	CV3882568	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2960T>C (p.Val987Ala)	not provided [RCV005234120]	uncertain significance	16	1766743	1766743	Human		name
598127381	CV3888165	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2831C>G (p.Pro944Arg)	not provided [RCV005242851]	uncertain significance	16	1766540	1766540	Human		name
598123010	CV3890160	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1790T>G (p.Val597Gly)	not provided [RCV005250679]	uncertain significance	16	1762898	1762898	Human		name
598223998	CV3892071	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1396G>T (p.Ala466Ser)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV005253410]	uncertain significance	16	1760471	1760471	Human	1	name
598200270	CV3892639	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1748C>G (p.Ser583Cys)	not provided [RCV005254472]	uncertain significance	16	1762856	1762856	Human		name
598243949	CV3895295	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2345C>A (p.Thr782Asn)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV005365609]	uncertain significance	16	1765077	1765077	Human	1	name
598198333	CV3985367	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2770G>A (p.Val924Ile)	Inborn genetic diseases [RCV005375538]	uncertain significance	16	1766360	1766360	Human	1	name
598198350	CV3985371	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2473G>A (p.Gly825Arg)	Inborn genetic diseases [RCV005375541]	uncertain significance	16	1765986	1765986	Human	1	name
598176683	CV3985372	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2749C>A (p.Pro917Thr)	Inborn genetic diseases [RCV005371457]	uncertain significance	16	1766339	1766339	Human	1	name
598198357	CV3985373	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2527G>A (p.Val843Met)	Inborn genetic diseases [RCV005375542]	likely benign	16	1766040	1766040	Human	1	name
598176689	CV3985374	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2725G>A (p.Glu909Lys)	Inborn genetic diseases [RCV005371458]	uncertain significance	16	1766315	1766315	Human	1	name
598176690	CV3985375	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2821G>A (p.Glu941Lys)	Inborn genetic diseases [RCV005371459]	uncertain significance	16	1766530	1766530	Human	1	name
598198364	CV3985376	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2492G>A (p.Ser831Asn)	Inborn genetic diseases [RCV005375543]	uncertain significance	16	1766005	1766005	Human	1	name
598198380	CV3985379	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2266C>G (p.Pro756Ala)	Inborn genetic diseases [RCV005375546]	uncertain significance	16	1764445	1764445	Human	1	name
598198386	CV3985380	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2630G>A (p.Gly877Glu)	Inborn genetic diseases [RCV005375547]	uncertain significance	16	1766220	1766220	Human	1	name
598176696	CV3985381	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1505C>T (p.Ala502Val)	Inborn genetic diseases [RCV005371460]	likely benign	16	1761271	1761271	Human	1	name
598198400	CV3985384	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1816A>C (p.Thr606Pro)	Inborn genetic diseases [RCV005375550]	uncertain significance	16	1762924	1762924	Human	1	name
598176700	CV3985386	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2954C>T (p.Ser985Leu)	Inborn genetic diseases [RCV005371461]	uncertain significance	16	1766737	1766737	Human	1	name
598176704	CV3985387	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2042G>C (p.Gly681Ala)	Inborn genetic diseases [RCV005371462]	uncertain significance	16	1764131	1764131	Human	1	name
598198412	CV3985389	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1565G>A (p.Arg522His)	Inborn genetic diseases [RCV005375552]	uncertain significance	16	1762376	1762376	Human	1	name
616935280	CV4009428	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1888T>G (p.Phe630Val)	not provided [RCV005402600]	uncertain significance	16	1762996	1762996	Human		name
616933907	CV4011879	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2752G>C (p.Gly918Arg)	not specified [RCV005408428]	uncertain significance	16	1766342	1766342	Human		name
616938526	CV4015015	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1957G>A (p.Glu653Lys)	not provided [RCV005412031]	uncertain significance	16	1763715	1763715	Human		name
617154451	CV4022511	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1988A>G (p.Gln663Arg)	not provided [RCV005429868]	uncertain significance	16	1763746	1763746	Human		name
13673931	CV536095	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2450C>A (p.Ala817Asp)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV002289946]\|not provided [RCV000656554]	uncertain significance	16	1765963	1765963	Human	1	name
13798401	CV551317	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1291C>T (p.Leu431Phe)	not provided [RCV000678323]	uncertain significance	16	1760002	1760002	Human		name
14693851	CV620949	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1334T>C (p.Leu445Pro)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV000779603]	pathogenic\|likely pathogenic	16	1760409	1760409	Human	1	name
14693852	CV620950	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)	Neurodevelopmental disorder [RCV002470976]\|Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV000779604]\|not provided [RCV001568532]	pathogenic\|likely pathogenic	16	1762843	1762843	Human	2	name
21072722	CV791528	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1665G>A (p.Met555Ile)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV000989409]	uncertain significance	16	1762476	1762476	Human	1	name
21070912	CV794182	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1201G>A (p.Gly401Arg)	Inborn genetic diseases [RCV001267005]\|Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV000993679]	conflicting interpretations of pathogenicity\|uncertain significance	16	1748705	1748705	Human	2	name
21070916	CV794183	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1577G>A (p.Arg526Gln)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV000993680]\|not provided [RCV004783873]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	1762388	1762388	Human	1	name
21070918	CV794184	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2985C>G (p.His995Gln)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV000993681]\|not provided [RCV003313162]	conflicting interpretations of pathogenicity\|uncertain significance\|not provided	16	1766768	1766768	Human	1	name
34889402	CV904942	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1385A>G (p.Glu462Gly)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001172335]\|not provided [RCV002509619]	likely pathogenic	16	1760460	1760460	Human	1	name
38467307	CV920107	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1873C>T (p.Arg625Trp)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001197553]	uncertain significance	16	1762981	1762981	Human	1	name
40887165	CV973990	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.1249A>G (p.Met417Val)	Inborn genetic diseases [RCV001266618]	uncertain significance	16	1759960	1759960	Human	1	name
40887636	CV973991	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.2919G>A (p.Trp973Ter)	Inborn genetic diseases [RCV001267241]	pathogenic	16	1766628	1766628	Human	1	name
127261684	CV1087383	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3865G>A (p.Gly1289Arg)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001420584]	uncertain significance	16	1768599	1768599	Human	1	name
150555417	CV1297880	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3260G>A (p.Arg1087Gln)	not provided [RCV001772788]	uncertain significance	16	1767586	1767586	Human		name
150542066	CV1302476	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3065T>G (p.Leu1022Arg)	Inborn genetic diseases [RCV005374796]\|not provided [RCV001761166]	uncertain significance	16	1766948	1766948	Human	1	name
150536052	CV1312243	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3440G>A (p.Arg1147His)	Neurodevelopmental disorder [RCV001780005]\|not provided [RCV004728811]	pathogenic\|uncertain significance	16	1767835	1767835	Human	1	name
152031999	CV1671060	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3469C>T (p.Arg1157Trp)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV002226597]	uncertain significance	16	1767864	1767864	Human	1	name
153345978	CV1690899	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3623A>G (p.Tyr1208Cys)	not specified [RCV002271799]	uncertain significance	16	1768259	1768259	Human		name
155268364	CV1705342	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3496G>C (p.Val1166Leu)	not provided [RCV002285947]	uncertain significance	16	1767891	1767891	Human		name
155642246	CV1707293	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3179T>G (p.Val1060Gly)	not provided [RCV002288223]	uncertain significance	16	1767239	1767239	Human		name
155799653	CV1862577	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3226A>G (p.Met1076Val)	Neurodevelopmental disorder [RCV002471984]	uncertain significance	16	1767286	1767286	Human	1	name
156173438	CV1867180	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3022C>T (p.His1008Tyr)	not provided [RCV002508733]	uncertain significance	16	1766905	1766905	Human		name
156048675	CV1867603	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3271C>G (p.Gln1091Glu)	not provided [RCV002510075]	uncertain significance	16	1767597	1767597	Human		name
156381170	CV2218603	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3936G>A (p.Met1312Ile)	Inborn genetic diseases [RCV002722537]	likely benign	16	1768746	1768746	Human	1	name
156120460	CV2219354	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3971G>A (p.Arg1324His)	Inborn genetic diseases [RCV002707803]	uncertain significance	16	1768781	1768781	Human	1	name
156121325	CV2227017	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3619G>A (p.Val1207Met)	Inborn genetic diseases [RCV002707858]	uncertain significance	16	1768255	1768255	Human	1	name
156284357	CV2249835	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3053C>T (p.Ala1018Val)	Inborn genetic diseases [RCV002793282]	uncertain significance	16	1766936	1766936	Human	1	name
156282064	CV2288792	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3560G>A (p.Arg1187Gln)	Inborn genetic diseases [RCV002878263]\|not provided [RCV003389919]	uncertain significance	16	1768105	1768105	Human	1	name
156098976	CV2306506	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3949C>G (p.Pro1317Ala)	Inborn genetic diseases [RCV002888507]	uncertain significance	16	1768759	1768759	Human	1	name
155957521	CV2387506	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3304G>A (p.Val1102Ile)	Inborn genetic diseases [RCV002753673]	uncertain significance	16	1767630	1767630	Human	1	name
156153626	CV2394999	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3931G>A (p.Asp1311Asn)	Inborn genetic diseases [RCV002764268]	likely benign	16	1768741	1768741	Human	1	name
243056026	CV2413267	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3394G>A (p.Val1132Ile)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003132589]	uncertain significance	16	1767720	1767720	Human	1	name
243056028	CV2413270	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3493G>A (p.Gly1165Arg)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003132590]	uncertain significance	16	1767888	1767888	Human	1	name
243054268	CV2413271	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3826G>A (p.Glu1276Lys)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003131550]\|not provided [RCV005412518]	uncertain significance	16	1768560	1768560	Human	1	name
243056031	CV2413272	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3598C>T (p.Arg1200Cys)	Inborn genetic diseases [RCV004246016]\|Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003132591]\|not provided [RCV003883958]	likely benign\|uncertain significance	16	1768234	1768234	Human	2	name
243054057	CV2416492	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3916G>C (p.Glu1306Gln)	not provided [RCV003149553]	uncertain significance	16	1768726	1768726	Human		name
329388389	CV2437366	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3298G>A (p.Asp1100Asn)	Inborn genetic diseases [RCV003190593]	uncertain significance	16	1767624	1767624	Human	1	name
329846489	CV2534074	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3046G>T (p.Ala1016Ser)	not provided [RCV003228280]	uncertain significance	16	1766929	1766929	Human		name
329847941	CV2667560	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3511C>T (p.Pro1171Ser)	not provided [RCV003229127]	uncertain significance	16	1767906	1767906	Human		name
329848268	CV2667887	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3878T>A (p.Ile1293Asn)	not provided [RCV003229454]	uncertain significance	16	1768612	1768612	Human		name
401915977	CV2667928	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3358C>T (p.His1120Tyr)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003443185]	uncertain significance	16	1767684	1767684	Human	1	name
401741444	CV2680409	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3821A>C (p.Glu1274Ala)	Inborn genetic diseases [RCV003251458]	uncertain significance	16	1768555	1768555	Human	1	name
401741842	CV2706420	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3802C>A (p.Pro1268Thr)	Inborn genetic diseases [RCV003292692]	uncertain significance	16	1768536	1768536	Human	1	name
401740495	CV2738726	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3689A>G (p.Gln1230Arg)	not provided [RCV003318120]	uncertain significance	16	1768325	1768325	Human		name
401828604	CV2742953	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3218C>G (p.Pro1073Arg)	not provided [RCV003325661]	uncertain significance	16	1767278	1767278	Human		name
401867962	CV2749161	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3077A>T (p.His1026Leu)	not specified [RCV003331987]	uncertain significance	16	1766960	1766960	Human		name
401875234	CV2787612	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3748G>A (p.Val1250Met)	Inborn genetic diseases [RCV003362620]	uncertain significance	16	1768482	1768482	Human	1	name
401904730	CV2810812	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3068C>T (p.Ala1023Val)	not provided [RCV003395200]	uncertain significance	16	1766951	1766951	Human		name
401904849	CV2810813	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3142C>T (p.His1048Tyr)	not provided [RCV003395201]	uncertain significance	16	1767202	1767202	Human		name
401904744	CV2810819	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3599G>A (p.Arg1200His)	not provided [RCV003395206]	likely benign\|uncertain significance	16	1768235	1768235	Human		name
401904746	CV2810820	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3602C>T (p.Pro1201Leu)	not provided [RCV003395207]	uncertain significance	16	1768238	1768238	Human		name
401904747	CV2810821	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3656G>C (p.Ser1219Thr)	not provided [RCV003395208]	uncertain significance	16	1768292	1768292	Human		name
401904749	CV2810822	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3847G>A (p.Val1283Met)	not provided [RCV003395209]	likely benign	16	1768581	1768581	Human		name
401904751	CV2810823	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3912G>C (p.Glu1304Asp)	not provided [RCV003395210]	uncertain significance	16	1768722	1768722	Human		name
401904752	CV2810826	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.4009G>A (p.Glu1337Lys)	not provided [RCV003395211]	likely benign	16	1768819	1768819	Human		name
401917443	CV2829861	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.4009G>C (p.Glu1337Gln)	not provided [RCV003443905]	uncertain significance	16	1768819	1768819	Human		name
401946249	CV2839433	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3239A>G (p.Lys1080Arg)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003458929]	uncertain significance	16	1767565	1767565	Human	1	name
404999130	CV2850437	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3712G>A (p.Asp1238Asn)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003493070]	uncertain significance	16	1768348	1768348	Human	1	name
405182421	CV2909460	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3887G>A (p.Arg1296His)	not provided [RCV003564032]	uncertain significance	16	1768621	1768621	Human		name
405282054	CV3224657	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3079C>T (p.Arg1027Cys)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003988992]	uncertain significance	16	1766962	1766962	Human	1	name
405700251	CV3227268	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3034C>T (p.Arg1012Cys)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003993620]	uncertain significance	16	1766917	1766917	Human	1	name
405811905	CV3285162	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3083G>C (p.Gly1028Ala)	Inborn genetic diseases [RCV004408698]\|not specified [RCV005407302]	uncertain significance	16	1766966	1766966	Human	1	name
405811907	CV3285163	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3176G>A (p.Arg1059His)	Inborn genetic diseases [RCV004408699]	likely benign	16	1767236	1767236	Human	1	name
405811909	CV3285164	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3572C>T (p.Thr1191Ile)	Inborn genetic diseases [RCV004408700]	likely benign	16	1768208	1768208	Human	1	name
405811916	CV3285167	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3772G>A (p.Val1258Met)	Inborn genetic diseases [RCV004408703]	uncertain significance	16	1768506	1768506	Human	1	name
405811918	CV3285168	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3990G>T (p.Trp1330Cys)	Inborn genetic diseases [RCV004408704]	uncertain significance	16	1768800	1768800	Human	1	name
407457809	CV3416226	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3986T>C (p.Val1329Ala)	not provided [RCV004599104]	uncertain significance	16	1768796	1768796	Human		name
407494576	CV3456820	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3647C>G (p.Ala1216Gly)	Inborn genetic diseases [RCV004643024]	uncertain significance	16	1768283	1768283	Human	1	name
407504488	CV3495929	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3877A>G (p.Ile1293Val)	not provided [RCV004697769]	uncertain significance	16	1768611	1768611	Human		name
407574107	CV3498456	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3038T>C (p.Val1013Ala)	not specified [RCV004702931]	uncertain significance	16	1766921	1766921	Human		name
408388848	CV3520930	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3604G>C (p.Gly1202Arg)	not provided [RCV004761763]	uncertain significance	16	1768240	1768240	Human		name
408391478	CV3523213	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3235G>C (p.Glu1079Gln)	not provided [RCV004770585]	uncertain significance	16	1767295	1767295	Human		name
408386974	CV3524324	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3376G>A (p.Val1126Met)	not provided [RCV004768198]	uncertain significance	16	1767702	1767702	Human		name
408390408	CV3527539	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3990G>A (p.Trp1330Ter)	not provided [RCV004774806]	uncertain significance	16	1768800	1768800	Human		name
596923834	CV3532041	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3658T>C (p.Phe1220Leu)	not provided [RCV004777152]	uncertain significance	16	1768294	1768294	Human		name
596921977	CV3535606	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3436G>A (p.Val1146Ile)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV004785161]	uncertain significance	16	1767831	1767831	Human	1	name
596924938	CV3536828	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3846C>A (p.Asn1282Lys)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV004785822]	uncertain significance	16	1768580	1768580	Human	1	name
596943795	CV3543031	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3198C>G (p.Asn1066Lys)	not provided [RCV004798616]	uncertain significance	16	1767258	1767258	Human		name
596944869	CV3543541	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3937A>C (p.Ser1313Arg)	not provided [RCV004801663]	uncertain significance	16	1768747	1768747	Human		name
597687944	CV3697411	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3080G>A (p.Arg1027His)	Inborn genetic diseases [RCV004984338]	uncertain significance	16	1766963	1766963	Human	1	name
597687988	CV3697419	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3802C>T (p.Pro1268Ser)	Inborn genetic diseases [RCV004984345]	uncertain significance	16	1768536	1768536	Human	1	name
598126714	CV3882170	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3941A>C (p.Gln1314Pro)	not provided [RCV005233721]	uncertain significance	16	1768751	1768751	Human		name
598215319	CV3890823	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3388C>G (p.Pro1130Ala)	not provided [RCV005251676]	uncertain significance	16	1767714	1767714	Human		name
598159513	CV3897104	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3149T>C (p.Ile1050Thr)	not provided [RCV005368078]	uncertain significance	16	1767209	1767209	Human		name
598198329	CV3985366	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3608G>T (p.Gly1203Val)	Inborn genetic diseases [RCV005375537]	uncertain significance	16	1768244	1768244	Human	1	name
598198340	CV3985368	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3208G>A (p.Val1070Ile)	Inborn genetic diseases [RCV005375539]	uncertain significance	16	1767268	1767268	Human	1	name
598198343	CV3985370	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3647C>T (p.Ala1216Val)	Inborn genetic diseases [RCV005375540]	likely benign	16	1768283	1768283	Human	1	name
598198367	CV3985377	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3295G>A (p.Gly1099Ser)	Inborn genetic diseases [RCV005375544]	uncertain significance	16	1767621	1767621	Human	1	name
598198391	CV3985382	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3176G>T (p.Arg1059Leu)	Inborn genetic diseases [RCV005375548]	uncertain significance	16	1767236	1767236	Human	1	name
598198396	CV3985383	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3170A>G (p.Tyr1057Cys)	Inborn genetic diseases [RCV005375549]	uncertain significance	16	1767230	1767230	Human	1	name
617150144	CV4017168	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3880G>A (p.Asp1294Asn)	not provided [RCV005416825]	uncertain significance	16	1768614	1768614	Human		name
617151511	CV4018039	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3092G>A (p.Gly1031Asp)	not specified [RCV005417829]	uncertain significance	16	1767152	1767152	Human		name
14693853	CV620951	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys)	Inborn genetic diseases [RCV001266867]\|Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV000779605]	pathogenic\|likely pathogenic	16	1767834	1767834	Human	2	name
25318890	CV816482	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3668A>G (p.Tyr1223Cys)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001027968]	uncertain significance	16	1768304	1768304	Human	1	name
38467021	CV920108	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3461C>G (p.Ala1154Gly)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV001196990]	uncertain significance	16	1767856	1767856	Human	1	name
39456990	CV966289	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3814G>A (p.Ala1272Thr)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV004799441]	uncertain significance	16	1768548	1768548	Human	1	name
40887839	CV973992	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3250G>A (p.Ala1084Thr)	Inborn genetic diseases [RCV001267407]	uncertain significance	16	1767576	1767576	Human	1	name
42723868	CV983855	single nucleotide variant	NM_001318852.2(MAPK8IP3):c.3653G>A (p.Ser1218Asn)	Global developmental delay [RCV001290434]	uncertain significance	16	1768289	1768289	Human	2	name
156434833	CV2403144	microsatellite	NM_001318852.2(MAPK8IP3):c.1497AGA[1] (p.Glu501del)	not provided [RCV003127100]	uncertain significance	16	1761262	1761264	Human		name
401721155	CV2737461	microsatellite	NM_001318852.2(MAPK8IP3):c.1323GAA[1] (p.Lys442del)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003314400]	uncertain significance	16	1760398	1760400	Human		name
598174942	CV3890944	microsatellite	NM_001318852.2(MAPK8IP3):c.2390TGG[1] (p.Val798del)	not provided [RCV005251797]	uncertain significance	16	1765120	1765122	Human		name
151350306	CV1325560	duplication	NM_001318852.2(MAPK8IP3):c.3902_3918dup (p.Glu1307fs)	not provided [RCV001814847]	uncertain significance	16	1768702	1768703	Human		name
243062536	CV2405007	deletion	NM_001318852.2(MAPK8IP3):c.3726_3729del (p.Phe1242fs)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA [RCV003140557]	uncertain significance	16	1768360	1768363	Human	1	name
596942675	CV3542655	deletion	NM_001318852.2(MAPK8IP3):c.3334_3335del (p.Leu1112fs)	not provided [RCV004798239]	pathogenic	16	1767660	1767661	Human		name
151351666	CV1321913	indel	NM_001318852.2(MAPK8IP3):c.2278_2279delinsGT (p.Lys760Val)	not provided [RCV001806583]	likely benign\|uncertain significance	16	1764457	1764458	Human		name
155803639	CV1858203	indel	NM_001318852.2(MAPK8IP3):c.1474_1475delinsGC (p.Ile492Ala)	not provided [RCV002462512]	uncertain significance	16	1761240	1761241	Human		name
408391204	CV3521249	duplication	NM_001318852.2(MAPK8IP3):c.3502_3504dup (p.Ile1168_Ser1169insIle)	not provided [RCV004763071]	uncertain significance	16	1767894	1767895	Human		name

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