Msl3 Variant Search Result - Rat Genome Database

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123 records found for search term Msl3

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150529486	CV1289033	single nucleotide variant	NM_078629.4(MSL3):c.909-5C>T	not provided [RCV001727502]	likely benign	X	11765462	11765462	Human		name
407429380	CV3413791	single nucleotide variant	NM_078629.4(MSL3):c.750-2A>G	Basilicata-Akhtar syndrome [RCV004595200]	likely pathogenic	X	11763778	11763778	Human	1	name
597663665	CV3554617	single nucleotide variant	NM_078629.4(MSL3):c.909-1G>A	Inborn genetic diseases [RCV004947173]	pathogenic	X	11765466	11765466	Human	1	name
150406283	CV1200218	single nucleotide variant	NM_078629.4(MSL3):c.1171+2T>A	X-linked neurodevelopmental delay, dysmorphism, and progressive neurological disorder [RCV001580274]	pathogenic	X	11765731	11765731	Human		name
401931018	CV2823870	single nucleotide variant	NM_078629.4(MSL3):c.1467-5T>C	not provided [RCV003440988]	likely benign	X	11774975	11774975	Human		name
13674043	CV480618	single nucleotide variant	NM_078629.4(MSL3):c.1381+1G>T	Basilicata-Akhtar syndrome [RCV000851336]\|Intellectual disability [RCV000656436]	pathogenic\|likely pathogenic	X	11772256	11772256	Human	3	name
15168877	CV745354	single nucleotide variant	NM_078629.4(MSL3):c.1382-3C>T	not provided [RCV000904948]	benign	X	11772618	11772618	Human		name
21074996	CV798801	single nucleotide variant	NM_078629.4(MSL3):c.1466+1G>A	Basilicata-Akhtar syndrome [RCV000995808]	pathogenic\|likely pathogenic	X	11772706	11772706	Human	1	name
40889566	CV972699	single nucleotide variant	NM_078629.4(MSL3):c.1171+1G>A	Neurodevelopmental abnormality [RCV001264670]	pathogenic	X	11765730	11765730	Human	2	name
150419014	CV1195683	single nucleotide variant	NM_078629.4(MSL3):c.1171+74G>A	not provided [RCV001569488]	uncertain significance	X	11765803	11765803	Human		name
153348406	CV1692423	deletion	NM_078629.4(MSL3):c.590_593del	Basilicata-Akhtar syndrome [RCV002274288]	pathogenic	X	11762835	11762838	Human	1	name
329351049	CV2477879	single nucleotide variant	NM_078629.4(MSL3):c.1171+73G>C	not provided [RCV003223992]	uncertain significance	X	11765802	11765802	Human		name
401919088	CV2798168	single nucleotide variant	NM_078629.4(MSL3):c.102+362C>T	MSL3-related disorder [RCV004527846]	uncertain significance	X	11758727	11758727	Human		name , trait , alternate_id
401931009	CV2823862	single nucleotide variant	NM_078629.4(MSL3):c.102+438C>T	not provided [RCV003440980]	likely benign	X	11758803	11758803	Human		name
405747154	CV3368661	single nucleotide variant	NM_078629.4(MSL3):c.102+377C>T	Inborn genetic diseases [RCV004498559]	likely benign	X	11758742	11758742	Human	1	name
408379038	CV3504030	single nucleotide variant	NM_078629.4(MSL3):c.1171+31G>A	MSL3-related disorder [RCV004728237]	uncertain significance	X	11765760	11765760	Human		name , trait , alternate_id
407456372	CV3415873	single nucleotide variant	NM_078629.4(MSL3):c.1171+1236G>A	not provided [RCV004598750]	likely benign	X	11766965	11766965	Human		name
155966388	CV2304742	single nucleotide variant	NM_078629.4(MSL3):c.5G>A (p.Ser2Asn)	Inborn genetic diseases [RCV002906519]	uncertain significance	X	11758268	11758268	Human	1	name
401748876	CV2719063	single nucleotide variant	NM_078629.4(MSL3):c.16G>A (p.Gly6Ser)	Inborn genetic diseases [RCV003303909]	uncertain significance	X	11758279	11758279	Human	1	name
151353560	CV1326723	single nucleotide variant	NM_078629.4(MSL3):c.384A>G (p.Ser128=)	not provided [RCV001816526]	likely benign	X	11761501	11761501	Human		name
401903655	CV2803495	single nucleotide variant	NM_078629.4(MSL3):c.61G>A (p.Glu21Lys)	MSL3-related disorder [RCV004528014]	uncertain significance	X	11758324	11758324	Human		name , trait , alternate_id
401931011	CV2823864	single nucleotide variant	NM_078629.4(MSL3):c.723C>T (p.Asn241=)	not provided [RCV003440982]	likely benign	X	11762971	11762971	Human		name
401931012	CV2823865	single nucleotide variant	NM_078629.4(MSL3):c.735C>A (p.Ile245=)	not provided [RCV003440983]	likely benign	X	11762983	11762983	Human		name
405292698	CV3192624	single nucleotide variant	NM_078629.4(MSL3):c.396C>T (p.Ser132=)	MSL3-related disorder [RCV004532078]	benign	X	11761513	11761513	Human		name , trait , alternate_id
405283345	CV3218580	single nucleotide variant	NM_078629.4(MSL3):c.810G>A (p.Pro270=)	MSL3-related disorder [RCV004545532]	likely benign	X	11763840	11763840	Human		name , trait , alternate_id
156054263	CV1869761	single nucleotide variant	NM_078629.4(MSL3):c.278G>A (p.Arg93His)	Inborn genetic diseases [RCV005377254]\|not provided [RCV003053107]	uncertain significance	X	11760495	11760495	Human	1	name
329848624	CV2523369	single nucleotide variant	NM_078629.4(MSL3):c.229G>C (p.Asp77His)	not provided [RCV003225383]	uncertain significance	X	11760446	11760446	Human		name
401829957	CV2744086	single nucleotide variant	NM_078629.4(MSL3):c.1125G>A (p.Gln375=)	not provided [RCV003327235]	likely benign	X	11765683	11765683	Human		name
401931015	CV2823867	single nucleotide variant	NM_078629.4(MSL3):c.1194A>C (p.Ser398=)	not provided [RCV003440985]	likely benign	X	11768595	11768595	Human		name
405004540	CV3184563	single nucleotide variant	NM_078629.4(MSL3):c.221G>C (p.Arg74Pro)	Basilicata-Akhtar syndrome [RCV003883352]	uncertain significance	X	11760438	11760438	Human	1	name
405255753	CV3210866	single nucleotide variant	NM_078629.4(MSL3):c.1095C>T (p.Ser365=)	MSL3-related disorder [RCV004532123]	benign	X	11765653	11765653	Human		name , trait , alternate_id
407428028	CV3412306	single nucleotide variant	NM_078629.4(MSL3):c.266A>C (p.Lys89Thr)	not provided [RCV004593474]	uncertain significance	X	11760483	11760483	Human		name
127244171	CV1053811	single nucleotide variant	NM_078629.4(MSL3):c.607C>T (p.Gln203Ter)	Basilicata-Akhtar syndrome [RCV001376014]	pathogenic	X	11762855	11762855	Human	1	name
150534266	CV1299067	single nucleotide variant	NM_078629.4(MSL3):c.890G>A (p.Ser297Asn)	not provided [RCV001756760]	uncertain significance	X	11763920	11763920	Human		name
150544449	CV1304950	single nucleotide variant	NM_078629.4(MSL3):c.844T>C (p.Tyr282His)	not provided [RCV001773198]	uncertain significance	X	11763874	11763874	Human		name
151349823	CV1325476	single nucleotide variant	NM_078629.4(MSL3):c.367G>C (p.Glu123Gln)	Basilicata-Akhtar syndrome [RCV003130551]\|not provided [RCV001814762]	uncertain significance	X	11760922	11760922	Human	1	name
155645223	CV1706807	deletion	NM_078629.4(MSL3):c.1282-249_1382-154del	Basilicata-Akhtar syndrome [RCV002287880]	pathogenic	X	11771907	11772467	Human	1	name
155921199	CV2212175	single nucleotide variant	NM_078629.4(MSL3):c.980C>T (p.Pro327Leu)	Inborn genetic diseases [RCV002727466]	likely benign	X	11765538	11765538	Human	1	name
156328226	CV2220029	single nucleotide variant	NM_078629.4(MSL3):c.989G>C (p.Gly330Ala)	Inborn genetic diseases [RCV002717673]	likely benign	X	11765547	11765547	Human	1	name
156127367	CV2223788	single nucleotide variant	NM_078629.4(MSL3):c.700G>A (p.Val234Ile)	Inborn genetic diseases [RCV002708237]	uncertain significance	X	11762948	11762948	Human	1	name
155934282	CV2372429	single nucleotide variant	NM_078629.4(MSL3):c.998C>G (p.Ala333Gly)	Inborn genetic diseases [RCV002684625]	uncertain significance	X	11765556	11765556	Human	1	name
156171677	CV2400707	single nucleotide variant	NM_078629.4(MSL3):c.520A>G (p.Ile174Val)	Inborn genetic diseases [RCV002765323]\|MSL3-related disorder [RCV004540606]\|not provided [RCV003883954]	benign\|likely benign	X	11762184	11762184	Human	2	name , trait , alternate_id
243050067	CV2403785	single nucleotide variant	NM_078629.4(MSL3):c.547C>T (p.Gln183Ter)	Basilicata-Akhtar syndrome [RCV003128304]	pathogenic	X	11762211	11762211	Human	1	name
243051082	CV2415690	single nucleotide variant	NM_078629.4(MSL3):c.308G>A (p.Arg103His)	Basilicata-Akhtar syndrome [RCV003148296]	uncertain significance	X	11760863	11760863	Human	1	name
329394414	CV2469860	single nucleotide variant	NM_078629.4(MSL3):c.655A>G (p.Ile219Val)	Inborn genetic diseases [RCV003218783]	uncertain significance	X	11762903	11762903	Human	1	name
329953863	CV2669201	single nucleotide variant	NM_078629.4(MSL3):c.742G>C (p.Glu248Gln)	not provided [RCV003231705]	uncertain significance	X	11762990	11762990	Human		name
401919334	CV2798221	single nucleotide variant	NM_078629.4(MSL3):c.488C>A (p.Thr163Lys)	MSL3-related disorder [RCV004527856]	uncertain significance	X	11762152	11762152	Human		name , trait , alternate_id
401931471	CV2803581	single nucleotide variant	NM_078629.4(MSL3):c.414C>G (p.Asn138Lys)	MSL3-related disorder [RCV004528030]	uncertain significance	X	11761531	11761531	Human		name , trait , alternate_id
401931010	CV2823863	single nucleotide variant	NM_078629.4(MSL3):c.320C>G (p.Pro107Arg)	not provided [RCV003440981]	uncertain significance	X	11760875	11760875	Human		name
405271919	CV3203000	single nucleotide variant	NM_078629.4(MSL3):c.358G>A (p.Glu120Lys)	Inborn genetic diseases [RCV004654375]\|MSL3-related disorder [RCV004539363]	likely benign	X	11760913	11760913	Human	2	name , trait , alternate_id
405870305	CV3401559	single nucleotide variant	NM_078629.4(MSL3):c.383C>A (p.Ser128Ter)	Basilicata-Akhtar syndrome [RCV004578016]	pathogenic	X	11761500	11761500	Human		name
407475706	CV3447266	single nucleotide variant	NM_078629.4(MSL3):c.719T>C (p.Met240Thr)	Inborn genetic diseases [RCV004638411]	likely benign	X	11762967	11762967	Human	1	name
408385434	CV3520139	single nucleotide variant	NM_078629.4(MSL3):c.965C>T (p.Ser322Phe)	not provided [RCV004759960]	uncertain significance	X	11765523	11765523	Human		name
408381816	CV3524011	single nucleotide variant	NM_078629.4(MSL3):c.985A>G (p.Thr329Ala)	not provided [RCV004766409]	uncertain significance	X	11765543	11765543	Human		name
596922346	CV3537049	single nucleotide variant	NM_078629.4(MSL3):c.928C>T (p.Pro310Ser)	not provided [RCV004786044]	uncertain significance	X	11765486	11765486	Human		name
596925150	CV3541850	duplication	NM_078629.4(MSL3):c.1220dup (p.Ser407fs)	Basilicata-Akhtar syndrome [RCV004795563]	likely pathogenic	X	11768620	11768621	Human	1	name
597663654	CV3554614	single nucleotide variant	NM_078629.4(MSL3):c.571A>G (p.Ile191Val)	Inborn genetic diseases [RCV004947171]	uncertain significance	X	11762235	11762235	Human	1	name
597701007	CV3554615	single nucleotide variant	NM_078629.4(MSL3):c.853G>A (p.Val285Met)	Inborn genetic diseases [RCV004956630]	uncertain significance	X	11763883	11763883	Human	1	name
597700999	CV3554618	single nucleotide variant	NM_078629.4(MSL3):c.800A>G (p.Tyr267Cys)	Inborn genetic diseases [RCV004956631]	uncertain significance	X	11763830	11763830	Human	1	name
597701948	CV3554620	single nucleotide variant	NM_078629.4(MSL3):c.432T>A (p.Ser144Arg)	Inborn genetic diseases [RCV004956632]	uncertain significance	X	11761549	11761549	Human	1	name
598123043	CV3890176	single nucleotide variant	NM_078629.4(MSL3):c.728A>G (p.His243Arg)	not provided [RCV005250695]	uncertain significance	X	11762976	11762976	Human		name
598208158	CV4007635	single nucleotide variant	NM_078629.4(MSL3):c.311G>A (p.Cys104Tyr)	Basilicata-Akhtar syndrome [RCV005399947]	uncertain significance	X	11760866	11760866	Human	1	name
616938169	CV4013160	single nucleotide variant	NM_078629.4(MSL3):c.510A>T (p.Arg170Ser)	not provided [RCV005410627]	uncertain significance	X	11762174	11762174	Human		name
616939177	CV4015507	single nucleotide variant	NM_078629.4(MSL3):c.911G>A (p.Ser304Asn)	not provided [RCV005413019]	uncertain significance	X	11765469	11765469	Human		name
13674047	CV480613	single nucleotide variant	NM_078629.4(MSL3):c.923T>C (p.Leu308Pro)	Basilicata-Akhtar syndrome [RCV000851339]\|Intellectual disability [RCV000656439]	pathogenic\|likely pathogenic	X	11765481	11765481	Human	3	name
13674052	CV480619	duplication	NM_078629.4(MSL3):c.1436dup (p.Leu480fs)	Intellectual disability [RCV000656443]	likely pathogenic	X	11772674	11772675	Human	2	name
13532880	CV512566	deletion	NM_078629.4(MSL3):c.1208del (p.Pro403fs)	Inborn genetic diseases [RCV000624640]	pathogenic\|likely pathogenic	X	11768608	11768608	Human	1	name
25317648	CV806152	duplication	NM_078629.4(MSL3):c.1319dup (p.Gly441fs)	not provided [RCV001008152]	pathogenic	X	11772187	11772188	Human		name
38463835	CV961355	single nucleotide variant	NM_078629.4(MSL3):c.961C>T (p.Gln321Ter)	Basilicata-Akhtar syndrome [RCV002283534]\|not provided [RCV001249324]	likely pathogenic\|not provided	X	11765519	11765519	Human	1	name
40888456	CV971495	single nucleotide variant	NM_078629.4(MSL3):c.947A>C (p.Asn316Thr)	Basilicata-Akhtar syndrome [RCV004799553]	uncertain significance	X	11765505	11765505	Human	1	name
150453382	CV1203790	single nucleotide variant	NM_078629.4(MSL3):c.1319C>A (p.Pro440Gln)	Basilicata-Akhtar syndrome [RCV001591746]	uncertain significance	X	11772193	11772193	Human	1	name
150533373	CV1292611	single nucleotide variant	NM_078629.4(MSL3):c.1040C>G (p.Ser347Cys)	not provided [RCV001754218]	uncertain significance	X	11765598	11765598	Human		name
150536261	CV1301572	single nucleotide variant	NM_078629.4(MSL3):c.1186A>C (p.Ser396Arg)	not provided [RCV001761038]	uncertain significance	X	11768587	11768587	Human		name
150548422	CV1316326	single nucleotide variant	NM_078629.4(MSL3):c.1013G>A (p.Arg338His)	not provided [RCV001786128]	uncertain significance	X	11765571	11765571	Human		name
151662505	CV1333161	single nucleotide variant	NM_078629.4(MSL3):c.1055C>T (p.Thr352Met)	Basilicata-Akhtar syndrome [RCV001837394]	uncertain significance	X	11765613	11765613	Human	1	name
153301616	CV1685803	single nucleotide variant	NM_078629.4(MSL3):c.1214C>G (p.Thr405Ser)	not provided [RCV002260780]	uncertain significance	X	11768615	11768615	Human		name
155641994	CV1707205	single nucleotide variant	NM_078629.4(MSL3):c.1004C>T (p.Pro335Leu)	not provided [RCV002288135]	uncertain significance	X	11765562	11765562	Human		name
155714426	CV1760347	single nucleotide variant	NM_078629.4(MSL3):c.1489G>A (p.Asp497Asn)	not provided [RCV002300853]	uncertain significance	X	11775002	11775002	Human		name
155798923	CV1862238	single nucleotide variant	NM_078629.4(MSL3):c.1094G>A (p.Ser365Asn)	Basilicata-Akhtar syndrome [RCV002471642]	likely benign	X	11765652	11765652	Human	1	name
156263735	CV2201190	single nucleotide variant	NM_078629.4(MSL3):c.1136C>T (p.Ala379Val)	Inborn genetic diseases [RCV002669113]	likely benign	X	11765694	11765694	Human	1	name
243056391	CV2410369	single nucleotide variant	NM_078629.4(MSL3):c.1552C>T (p.Arg518Trp)	Basilicata-Akhtar syndrome [RCV003132687]	uncertain significance	X	11775065	11775065	Human	1	name
329355683	CV2477550	single nucleotide variant	NM_078629.4(MSL3):c.1105C>T (p.Gln369Ter)	Basilicata-Akhtar syndrome [RCV003223497]	pathogenic	X	11765663	11765663	Human	1	name
329847447	CV2524283	single nucleotide variant	NM_078629.4(MSL3):c.1562A>T (p.Tyr521Phe)	not provided [RCV003227175]	uncertain significance	X	11775075	11775075	Human		name
329846420	CV2534030	single nucleotide variant	NM_078629.4(MSL3):c.1357G>C (p.Ala453Pro)	not provided [RCV003228236]	uncertain significance	X	11772231	11772231	Human		name
401780783	CV2685718	single nucleotide variant	NM_078629.4(MSL3):c.1358C>G (p.Ala453Gly)	Inborn genetic diseases [RCV003264986]	likely benign	X	11772232	11772232	Human	1	name
401740204	CV2738687	single nucleotide variant	NM_078629.4(MSL3):c.1148A>G (p.Lys383Arg)	not provided [RCV003318081]	uncertain significance	X	11765706	11765706	Human		name
401798961	CV2741540	single nucleotide variant	NM_078629.4(MSL3):c.1505C>T (p.Ser502Leu)	not provided [RCV003322948]	uncertain significance	X	11775018	11775018	Human		name
401799239	CV2741817	single nucleotide variant	NM_078629.4(MSL3):c.1237G>A (p.Val413Met)	not provided [RCV003323225]	uncertain significance	X	11768638	11768638	Human		name
401891293	CV2768971	single nucleotide variant	NM_078629.4(MSL3):c.1556C>T (p.Ala519Val)	Inborn genetic diseases [RCV003354833]	likely benign	X	11775069	11775069	Human	1	name
401868362	CV2781641	single nucleotide variant	NM_078629.4(MSL3):c.1192T>G (p.Ser398Ala)	Inborn genetic diseases [RCV003360457]	uncertain significance	X	11768593	11768593	Human	1	name
401931013	CV2823866	single nucleotide variant	NM_078629.4(MSL3):c.1180G>A (p.Val394Met)	not provided [RCV003440984]	uncertain significance	X	11768581	11768581	Human		name
401931016	CV2823868	single nucleotide variant	NM_078629.4(MSL3):c.1221C>A (p.Ser407Arg)	not provided [RCV003440986]	uncertain significance	X	11768622	11768622	Human		name
401931017	CV2823869	single nucleotide variant	NM_078629.4(MSL3):c.1436C>T (p.Ala479Val)	not provided [RCV003440987]	uncertain significance	X	11772675	11772675	Human		name
405267405	CV3186825	single nucleotide variant	NM_078629.4(MSL3):c.1357G>A (p.Ala453Thr)	not provided [RCV003886906]	uncertain significance	X	11772231	11772231	Human		name
407424902	CV3410984	single nucleotide variant	NM_078629.4(MSL3):c.1034T>C (p.Leu345Ser)	not provided [RCV004588674]	uncertain significance	X	11765592	11765592	Human		name
408366357	CV3500205	single nucleotide variant	NM_078629.4(MSL3):c.1373G>A (p.Arg458Gln)	not provided [RCV004722248]	pathogenic	X	11772247	11772247	Human		name
408381071	CV3501386	single nucleotide variant	NM_078629.4(MSL3):c.1355G>T (p.Gly452Val)	not provided [RCV004727475]	uncertain significance	X	11772229	11772229	Human		name
408384161	CV3520039	single nucleotide variant	NM_078629.4(MSL3):c.1387C>G (p.Leu463Val)	not provided [RCV004759860]	uncertain significance	X	11772626	11772626	Human		name
408386551	CV3522577	single nucleotide variant	NM_078629.4(MSL3):c.1306G>C (p.Asp436His)	not provided [RCV004767937]	uncertain significance	X	11772180	11772180	Human		name
408385876	CV3528723	single nucleotide variant	NM_078629.4(MSL3):c.1139G>C (p.Ser380Thr)	not provided [RCV004772556]	uncertain significance	X	11765697	11765697	Human		name
596931005	CV3529847	single nucleotide variant	NM_078629.4(MSL3):c.1229G>A (p.Gly410Glu)	not provided [RCV004780897]	uncertain significance	X	11768630	11768630	Human		name
597663660	CV3554616	single nucleotide variant	NM_078629.4(MSL3):c.1129A>G (p.Thr377Ala)	Inborn genetic diseases [RCV004947172]	uncertain significance	X	11765687	11765687	Human	1	name
598225662	CV3894282	single nucleotide variant	NM_078629.4(MSL3):c.1204A>G (p.Ile402Val)	not provided [RCV005257525]	likely benign	X	11768605	11768605	Human		name
598208154	CV4007634	single nucleotide variant	NM_078629.4(MSL3):c.1435G>C (p.Ala479Pro)	Basilicata-Akhtar syndrome [RCV005399946]	uncertain significance	X	11772674	11772674	Human	1	name
13674046	CV480614	single nucleotide variant	NM_078629.4(MSL3):c.1036C>T (p.Gln346Ter)	Basilicata-Akhtar syndrome [RCV000851338]\|Intellectual disability [RCV000656438]\|not provided [RCV003128633]	pathogenic\|likely pathogenic	X	11765594	11765594	Human	3	name
13674049	CV480616	single nucleotide variant	NM_078629.4(MSL3):c.1372C>T (p.Arg458Ter)	Basilicata-Akhtar syndrome [RCV000851340]\|Intellectual disability [RCV000656440]\|not provided [RCV003128634]	pathogenic\|likely pathogenic	X	11772246	11772246	Human	3	name
13520404	CV495787	single nucleotide variant	NM_078629.4(MSL3):c.1193C>A (p.Ser398Ter)	not specified [RCV000598610]	uncertain significance	X	11768594	11768594	Human		name
38598736	CV964898	single nucleotide variant	NM_078629.4(MSL3):c.1314C>A (p.Tyr438Ter)	Basilicata-Akhtar syndrome [RCV001254036]	pathogenic	X	11772188	11772188	Human	1	name
40886748	CV974274	single nucleotide variant	NM_078629.4(MSL3):c.1360C>T (p.Gln454Ter)	Inborn genetic diseases [RCV001265979]	pathogenic	X	11772234	11772234	Human	1	name
596947169	CV3548719	microsatellite	NM_078629.4(MSL3):c.1171+1376_1171+1379del	not provided [RCV004811043]	likely benign	X	11767103	11767106	Human		name
150452544	CV1275279	deletion	NM_078629.4(MSL3):c.872_876del (p.Phe291fs)	Basilicata-Akhtar syndrome [RCV001706792]	likely pathogenic	X	11763900	11763904	Human	1	name
152981612	CV1676927	microsatellite	NM_078629.4(MSL3):c.469GAA[1] (p.Glu158del)	not specified [RCV002247994]	uncertain significance	X	11762131	11762133	Human		name
155268978	CV1705808	microsatellite	NM_078629.4(MSL3):c.973_974del (p.Gln326fs)	Basilicata-Akhtar syndrome [RCV002286463]\|not provided [RCV004697201]	pathogenic	X	11765527	11765528	Human		name
25327631	CV816010	microsatellite	NM_078629.4(MSL3):c.971_974del (p.Glu324fs)	Global developmental delay [RCV001027676]	pathogenic	X	11765527	11765530	Human		name
40886983	CV974272	duplication	NM_078629.4(MSL3):c.709_715dup (p.Asn239fs)	Inborn genetic diseases [RCV001266337]	pathogenic	X	11762950	11762951	Human	1	name
38464004	CV961356	microsatellite	NM_078629.4(MSL3):c.1359ACA[1] (p.Gln454del)	MSL3-related disorder [RCV001249411]	not provided	X	11772233	11772235	Human		name , trait , alternate_id
150557149	CV1310496	microsatellite	NM_078629.4(MSL3):c.1226_1229del (p.Glu409fs)	Basilicata-Akhtar syndrome [RCV001775424]	pathogenic	X	11768623	11768626	Human		name
13674050	CV480615	deletion	NM_078629.4(MSL3):c.1065_1066del (p.Ala356fs)	Intellectual disability [RCV000656441]	likely pathogenic	X	11765622	11765623	Human	2	name
13674044	CV480617	deletion	NM_078629.4(MSL3):c.1374_1381del (p.Leu459fs)	Basilicata-Akhtar syndrome [RCV000851337]\|Intellectual disability [RCV000656437]	pathogenic\|likely pathogenic	X	11772247	11772254	Human	3	name
25318453	CV806151	deletion	NM_078629.4(MSL3):c.1168_1169del (p.Lys390fs)	not provided [RCV001008626]	pathogenic	X	11765724	11765725	Human		name
40887055	CV974273	duplication	NM_078629.4(MSL3):c.1125_1141dup (p.Met381fs)	Basilicata-Akhtar syndrome [RCV003883171]\|Inborn genetic diseases [RCV001266445]	pathogenic	X	11765677	11765678	Human	2	name
401931517	CV2798483	deletion	NM_078629.4(MSL3):c.1197_1199del (p.Ser400del)	MSL3-related disorder [RCV004527894]	uncertain significance	X	11768596	11768598	Human		name , trait , alternate_id
13674051	CV480620	indel	NM_078629.4(MSL3):c.1516_1517delinsA (p.Ala506fs)	Intellectual disability [RCV000656442]	likely pathogenic	X	11775029	11775030	Human		name

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