Mast3 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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191 records found for search term Mast3

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
596928328	CV3532891	single nucleotide variant	NM_001393504.1(MAST3):c.71+6T>G	not provided [RCV004778989]	uncertain significance	19	18107624	18107624	Human		name
156034008	CV2211680	deletion	NM_001393504.1(MAST3):c.844-3del	Inborn genetic diseases [RCV002691788]	uncertain significance	19	18124258	18124258	Human	1	name
401720297	CV2737214	single nucleotide variant	NM_001393504.1(MAST3):c.399+3A>G	not provided [RCV003314153]	uncertain significance	19	18122754	18122754	Human		name
156401555	CV2207375	single nucleotide variant	NM_001393504.1(MAST3):c.1432+4C>T	Inborn genetic diseases [RCV002657013]	uncertain significance	19	18130706	18130706	Human	1	name
155973958	CV2211115	single nucleotide variant	NM_001393504.1(MAST3):c.3509-6C>T	Inborn genetic diseases [RCV002687750]	likely benign	19	18149185	18149185	Human	1	name
596921047	CV3534494	single nucleotide variant	NM_001393504.1(MAST3):c.1572-4A>G	not specified [RCV004783713]	uncertain significance	19	18134575	18134575	Human		name
598227671	CV3894535	single nucleotide variant	NM_001393504.1(MAST3):c.72-297G>T	not provided [RCV005257778]	likely benign	19	18110355	18110355	Human		name
617148975	CV4021239	single nucleotide variant	NM_001393504.1(MAST3):c.1432+8C>T	not provided [RCV005425208]	likely benign	19	18130710	18130710	Human		name
150499220	CV1235695	single nucleotide variant	NM_001393504.1(MAST3):c.1870+15C>T	not provided [RCV001656378]	benign	19	18134997	18134997	Human		name
405276825	CV3211830	single nucleotide variant	NM_001393504.1(MAST3):c.23G>A (p.Arg8Gln)	MAST3-related disorder [RCV004543917]	uncertain significance	19	18097815	18097815	Human		name , trait
156061050	CV2280328	single nucleotide variant	NM_001393504.1(MAST3):c.68G>A (p.Arg23His)	Inborn genetic diseases [RCV002868148]	uncertain significance	19	18107615	18107615	Human	1	name
408369861	CV3517554	single nucleotide variant	NM_001393504.1(MAST3):c.327C>T (p.Asp109=)	MAST3-related disorder [RCV004737769]	likely benign	19	18122679	18122679	Human		name , trait
408381388	CV3524836	single nucleotide variant	NM_001393504.1(MAST3):c.35T>C (p.Leu12Pro)	not provided [RCV004769731]	uncertain significance	19	18097827	18097827	Human		name
597688320	CV3697751	single nucleotide variant	NM_001393504.1(MAST3):c.690C>T (p.Gly230=)	Inborn genetic diseases [RCV004984423]	likely benign	19	18123995	18123995	Human	1	name
150332043	CV1169809	single nucleotide variant	NM_001393504.1(MAST3):c.1695C>T (p.Ile565=)	not provided [RCV001536730]	benign	19	18134702	18134702	Human		name
155796641	CV1859120	single nucleotide variant	NM_001393504.1(MAST3):c.220C>G (p.Arg74Gly)	not provided [RCV002464748]	uncertain significance	19	18121743	18121743	Human		name
155910082	CV2303520	single nucleotide variant	NM_001393504.1(MAST3):c.178C>T (p.Arg60Cys)	Inborn genetic diseases [RCV002902439]	uncertain significance	19	18121701	18121701	Human	1	name
401908672	CV2811831	single nucleotide variant	NM_001393504.1(MAST3):c.1224G>A (p.Gly408=)	not provided [RCV003423448]	likely benign	19	18130494	18130494	Human		name
405658976	CV3277952	single nucleotide variant	NM_001393504.1(MAST3):c.239C>T (p.Ser80Leu)	Inborn genetic diseases [RCV004416627]	uncertain significance	19	18121762	18121762	Human	1	name
408385823	CV3520369	single nucleotide variant	NM_001393504.1(MAST3):c.188T>C (p.Leu63Ser)	not provided [RCV004760190]	uncertain significance	19	18121711	18121711	Human		name
596929027	CV3540725	deletion	NM_001393504.1(MAST3):c.415del (p.Arg139fs)	not provided [RCV004795053]	uncertain significance	19	18123230	18123230	Human		name
597688295	CV3697748	single nucleotide variant	NM_001393504.1(MAST3):c.169A>G (p.Ser57Gly)	Inborn genetic diseases [RCV004984420]	uncertain significance	19	18121692	18121692	Human	1	name
598238749	CV3893302	single nucleotide variant	NM_001393504.1(MAST3):c.2205G>A (p.Lys735=)	not provided [RCV005256035]	uncertain significance	19	18139124	18139124	Human		name
617149274	CV4021499	single nucleotide variant	NM_001393504.1(MAST3):c.2241C>T (p.Pro747=)	not provided [RCV005425468]	likely benign	19	18141917	18141917	Human		name
15167430	CV704856	single nucleotide variant	NM_001393504.1(MAST3):c.1914C>T (p.Asp638=)	not provided [RCV000949056]	benign	19	18135783	18135783	Human		name
15120305	CV716295	single nucleotide variant	NM_001393504.1(MAST3):c.1689G>A (p.Glu563=)	not provided [RCV000962700]	benign	19	18134696	18134696	Human		name
8636690	CV91915	single nucleotide variant	NM_015016.1(MAST3):c.3875C>T (p.Ala1292Val)	Malignant melanoma [RCV000072013]	not provided	19	18149671	18149671	Human		name
150487188	CV1225867	single nucleotide variant	NM_001393504.1(MAST3):c.674C>T (p.Thr225Met)	not provided [RCV001618028]	benign	19	18123979	18123979	Human		name
150555707	CV1304862	single nucleotide variant	NM_001393504.1(MAST3):c.479A>G (p.His160Arg)	not provided [RCV001773110]	uncertain significance	19	18123296	18123296	Human		name
156270243	CV2290051	single nucleotide variant	NM_001393504.1(MAST3):c.583G>A (p.Asp195Asn)	Inborn genetic diseases [RCV002855972]	uncertain significance	19	18123605	18123605	Human	1	name
156251193	CV2394283	single nucleotide variant	NM_001393504.1(MAST3):c.339G>T (p.Trp113Cys)	Inborn genetic diseases [RCV002768877]	uncertain significance	19	18122691	18122691	Human	1	name
401754868	CV2682321	single nucleotide variant	NM_001393504.1(MAST3):c.683C>T (p.Ala228Val)	Inborn genetic diseases [RCV003255122]	uncertain significance	19	18123988	18123988	Human	1	name
401733996	CV2697925	single nucleotide variant	NM_001393504.1(MAST3):c.986C>T (p.Ala329Val)	Inborn genetic diseases [RCV003249356]	uncertain significance	19	18124682	18124682	Human	1	name
401887127	CV2775633	single nucleotide variant	NM_001393504.1(MAST3):c.866A>G (p.Glu289Gly)	Inborn genetic diseases [RCV003352214]	uncertain significance	19	18124287	18124287	Human	1	name
401937127	CV2811830	single nucleotide variant	NM_001393504.1(MAST3):c.517G>A (p.Gly173Ser)	not provided [RCV003415148]	likely benign	19	18123334	18123334	Human	1	name
401916936	CV2829576	duplication	NM_001393504.1(MAST3):c.1510dup (p.Val504fs)	not provided [RCV003443620]	uncertain significance	19	18131984	18131985	Human		name
405291923	CV3221212	single nucleotide variant	NM_001393504.1(MAST3):c.695G>A (p.Arg232Gln)	Inborn genetic diseases [RCV004369879]\|MAST3-related disorder [RCV004545705]	likely benign	19	18124000	18124000	Human	1	name , trait
405659053	CV3277972	single nucleotide variant	NM_001393504.1(MAST3):c.529C>T (p.Arg177Cys)	Inborn genetic diseases [RCV004416647]	likely benign	19	18123346	18123346	Human	1	name
405659057	CV3277973	single nucleotide variant	NM_001393504.1(MAST3):c.588T>G (p.Asn196Lys)	Inborn genetic diseases [RCV004416648]	uncertain significance	19	18123610	18123610	Human	1	name
405659061	CV3277974	single nucleotide variant	NM_001393504.1(MAST3):c.656G>A (p.Arg219His)	Inborn genetic diseases [RCV004416649]	likely benign	19	18123961	18123961	Human	1	name
407429197	CV3413584	single nucleotide variant	NM_001393504.1(MAST3):c.913A>G (p.Ile305Val)	Developmental and epileptic encephalopathy 108 [RCV004594993]	uncertain significance	19	18124334	18124334	Human	1	name
408381534	CV3501955	single nucleotide variant	NM_001393504.1(MAST3):c.398C>T (p.Ser133Leu)	not provided [RCV004729483]	pathogenic	19	18122750	18122750	Human		name
408369335	CV3509469	single nucleotide variant	NM_001393504.1(MAST3):c.327C>A (p.Asp109Glu)	MAST3-related disorder [RCV004736841]	uncertain significance	19	18122679	18122679	Human		name , trait
408389878	CV3519114	single nucleotide variant	NM_001393504.1(MAST3):c.602T>C (p.Met201Thr)	not provided [RCV004762423]	uncertain significance	19	18123624	18123624	Human		name
408387084	CV3524384	single nucleotide variant	NM_001393504.1(MAST3):c.826G>C (p.Glu276Gln)	not provided [RCV004768258]	uncertain significance	19	18124131	18124131	Human		name
597688219	CV3697737	single nucleotide variant	NM_001393504.1(MAST3):c.560C>T (p.Pro187Leu)	Inborn genetic diseases [RCV004984409]	uncertain significance	19	18123582	18123582	Human	1	name
597688327	CV3697752	single nucleotide variant	NM_001393504.1(MAST3):c.617G>A (p.Arg206Gln)	Inborn genetic diseases [RCV004984424]	uncertain significance	19	18123639	18123639	Human	1	name
598122449	CV3889870	single nucleotide variant	NM_001393504.1(MAST3):c.905T>C (p.Leu302Pro)	Developmental and epileptic encephalopathy 108 [RCV005247974]	uncertain significance	19	18124326	18124326	Human	1	name
598201318	CV3892771	single nucleotide variant	NM_001393504.1(MAST3):c.589G>A (p.Glu197Lys)	not provided [RCV005254604]	uncertain significance	19	18123611	18123611	Human		name
598239035	CV3893682	single nucleotide variant	NM_001393504.1(MAST3):c.848A>G (p.His283Arg)	not provided [RCV005256415]	uncertain significance	19	18124269	18124269	Human		name
598199230	CV3981647	single nucleotide variant	NM_001393504.1(MAST3):c.742G>A (p.Val248Ile)	Inborn genetic diseases [RCV005375668]	likely benign	19	18124047	18124047	Human	1	name
598199246	CV3981651	single nucleotide variant	NM_001393504.1(MAST3):c.991G>A (p.Gly331Ser)	Inborn genetic diseases [RCV005375671]	uncertain significance	19	18124687	18124687	Human	1	name
127286060	CV1161650	single nucleotide variant	NM_001393504.1(MAST3):c.1615G>A (p.Gly539Ser)	Developmental and epileptic encephalopathy 108 [RCV002310594]\|MAST3-related disorder [RCV001526446]\|Pervasive developmental disorder [RCV003761390]\|not provided [RCV001655791]	pathogenic\|uncertain significance	19	18134622	18134622	Human	3	name , trait
150549563	CV1299524	single nucleotide variant	NM_001393504.1(MAST3):c.1282A>G (p.Asn428Asp)	not provided [RCV001752450]	uncertain significance	19	18130552	18130552	Human		name
151730333	CV1517775	single nucleotide variant	NM_001393504.1(MAST3):c.2668G>A (p.Gly890Ser)	not provided [RCV002052390]	benign	19	18144549	18144549	Human		name
153349207	CV1694062	single nucleotide variant	NM_001393504.1(MAST3):c.1607C>T (p.Thr536Met)	not provided [RCV002275599]	uncertain significance	19	18134614	18134614	Human		name
155266932	CV1696421	single nucleotide variant	NM_001393504.1(MAST3):c.1555G>C (p.Asp519His)	not provided [RCV002281279]	uncertain significance	19	18132031	18132031	Human		name
155267665	CV1705065	single nucleotide variant	NM_001393504.1(MAST3):c.2638C>T (p.Arg880Ter)	not provided [RCV002285670]	uncertain significance	19	18144519	18144519	Human		name
155641495	CV1707004	single nucleotide variant	NM_001393504.1(MAST3):c.2882G>C (p.Arg961Pro)	not provided [RCV002287934]	uncertain significance	19	18145072	18145072	Human		name
155680894	CV1780691	single nucleotide variant	NM_001393504.1(MAST3):c.1630G>A (p.Gly544Ser)	Developmental and epileptic encephalopathy 108 [RCV002306289]	pathogenic	19	18134637	18134637	Human	1	name
155680899	CV1780692	single nucleotide variant	NM_001393504.1(MAST3):c.1634T>C (p.Leu545Pro)	Developmental and epileptic encephalopathy 108 [RCV002306290]	pathogenic	19	18134641	18134641	Human	1	name
155680904	CV1780693	single nucleotide variant	NM_001393504.1(MAST3):c.1738G>T (p.Val580Leu)	Developmental and epileptic encephalopathy 108 [RCV002306291]	pathogenic	19	18134850	18134850	Human	1	name
155680909	CV1780694	single nucleotide variant	NM_001393504.1(MAST3):c.1304G>C (p.Arg435Pro)	Developmental and epileptic encephalopathy 108 [RCV002306292]	pathogenic	19	18130574	18130574	Human	1	name
155917861	CV2199149	single nucleotide variant	NM_001393504.1(MAST3):c.2338C>T (p.Arg780Trp)	Inborn genetic diseases [RCV002682406]	uncertain significance	19	18142014	18142014	Human	1	name
155972925	CV2214396	single nucleotide variant	NM_001393504.1(MAST3):c.2530C>G (p.Pro844Ala)	Inborn genetic diseases [RCV002687662]	likely benign	19	18143953	18143953	Human	1	name
156316183	CV2250877	single nucleotide variant	NM_001393504.1(MAST3):c.1789G>A (p.Val597Ile)	Inborn genetic diseases [RCV002809547]	likely benign	19	18134901	18134901	Human	1	name
155964286	CV2261603	single nucleotide variant	NM_001393504.1(MAST3):c.1457A>G (p.Lys486Arg)	Inborn genetic diseases [RCV002817128]	uncertain significance	19	18131933	18131933	Human	1	name
156365721	CV2272163	single nucleotide variant	NM_001393504.1(MAST3):c.2509C>T (p.Pro837Ser)	Inborn genetic diseases [RCV002813510]	uncertain significance	19	18143932	18143932	Human	1	name
156116751	CV2283000	single nucleotide variant	NM_001393504.1(MAST3):c.2930G>A (p.Arg977Gln)	Inborn genetic diseases [RCV002848795]	uncertain significance	19	18145120	18145120	Human	1	name
155932616	CV2290763	single nucleotide variant	NM_001393504.1(MAST3):c.1462A>G (p.Met488Val)	Inborn genetic diseases [RCV002861199]	uncertain significance	19	18131938	18131938	Human	1	name
156353067	CV2324096	single nucleotide variant	NM_001393504.1(MAST3):c.2245C>T (p.Pro749Ser)	Inborn genetic diseases [RCV002940177]	uncertain significance	19	18141921	18141921	Human	1	name
156051770	CV2363252	single nucleotide variant	NM_001393504.1(MAST3):c.2914G>A (p.Val972Met)	Inborn genetic diseases [RCV002692892]	uncertain significance	19	18145104	18145104	Human	1	name
156440115	CV2401800	single nucleotide variant	NM_001393504.1(MAST3):c.1591G>T (p.Gly531Cys)	not provided [RCV003110088]	uncertain significance	19	18134598	18134598	Human		name
329355753	CV2445647	single nucleotide variant	NM_001393504.1(MAST3):c.2137G>A (p.Glu713Lys)	Developmental and epileptic encephalopathy 108 [RCV004763621]\|Inborn genetic diseases [RCV003203006]	uncertain significance	19	18139056	18139056	Human	2	name
329371637	CV2454822	single nucleotide variant	NM_001393504.1(MAST3):c.2828G>A (p.Gly943Asp)	Inborn genetic diseases [RCV003209825]	uncertain significance	19	18145018	18145018	Human	1	name
329395401	CV2473133	single nucleotide variant	NM_001393504.1(MAST3):c.1309C>A (p.Gln437Lys)	not provided [RCV003219117]	uncertain significance	19	18130579	18130579	Human		name
329847703	CV2524451	single nucleotide variant	NM_001393504.1(MAST3):c.2085C>G (p.Ser695Arg)	not provided [RCV003227343]	uncertain significance	19	18137351	18137351	Human		name
329954126	CV2669428	single nucleotide variant	NM_001393504.1(MAST3):c.1735G>A (p.Glu579Lys)	not provided [RCV003231936]	uncertain significance	19	18134847	18134847	Human		name
401723480	CV2672131	single nucleotide variant	NM_001393504.1(MAST3):c.1931C>T (p.Thr644Ile)	not provided [RCV003239032]	uncertain significance	19	18135800	18135800	Human		name
401742865	CV2673893	single nucleotide variant	NM_001393504.1(MAST3):c.1117C>G (p.Pro373Ala)	Inborn genetic diseases [RCV003251797]	likely benign	19	18128438	18128438	Human	1	name
401739777	CV2704715	single nucleotide variant	NM_001393504.1(MAST3):c.1738G>C (p.Val580Leu)	Inborn genetic diseases [RCV003292180]	likely pathogenic	19	18134850	18134850	Human	1	name
401763041	CV2710418	single nucleotide variant	NM_001393504.1(MAST3):c.2279G>A (p.Arg760Gln)	Inborn genetic diseases [RCV003258082]	uncertain significance	19	18141955	18141955	Human	1	name
401738075	CV2714314	single nucleotide variant	NM_001393504.1(MAST3):c.1924C>T (p.Leu642Phe)	Inborn genetic diseases [RCV003273617]	uncertain significance	19	18135793	18135793	Human	1	name
401724138	CV2725148	single nucleotide variant	NM_001393504.1(MAST3):c.2929C>T (p.Arg977Trp)	Inborn genetic diseases [RCV003268542]	likely benign	19	18145119	18145119	Human	1	name
401866929	CV2748782	single nucleotide variant	NM_001393504.1(MAST3):c.1477G>A (p.Val493Met)	not specified [RCV003331604]	uncertain significance	19	18131953	18131953	Human		name
401883439	CV2754220	single nucleotide variant	NM_001393504.1(MAST3):c.1141C>T (p.Arg381Cys)	Inborn genetic diseases [RCV003350920]	likely benign	19	18128869	18128869	Human	1	name
401879314	CV2758269	single nucleotide variant	NM_001393504.1(MAST3):c.2809G>A (p.Ala937Thr)	Inborn genetic diseases [RCV003349359]	uncertain significance	19	18144690	18144690	Human	1	name
401894338	CV2780722	single nucleotide variant	NM_001393504.1(MAST3):c.2900G>A (p.Arg967Gln)	Inborn genetic diseases [RCV003371392]	uncertain significance	19	18145090	18145090	Human	1	name
401936461	CV2803552	single nucleotide variant	NM_001393504.1(MAST3):c.2549C>T (p.Ala850Val)	MAST3-related disorder [RCV004528025]	uncertain significance	19	18143972	18143972	Human		name , trait
401908671	CV2811832	single nucleotide variant	NM_001393504.1(MAST3):c.1397G>A (p.Arg466Gln)	not provided [RCV003423449]	uncertain significance	19	18130667	18130667	Human		name
402479350	CV2853303	single nucleotide variant	NM_001393504.1(MAST3):c.1304G>A (p.Arg435His)	Developmental and epileptic encephalopathy 108 [RCV003494498]	uncertain significance	19	18130574	18130574	Human	1	name
405701472	CV3225991	single nucleotide variant	NM_001393504.1(MAST3):c.1747C>T (p.Arg583Cys)	Developmental and epileptic encephalopathy 108 [RCV003989433]	uncertain significance	19	18134859	18134859	Human	1	name
405691122	CV3227490	single nucleotide variant	NM_001393504.1(MAST3):c.2612G>A (p.Arg871His)	Developmental and epileptic encephalopathy 108 [RCV003991835]	uncertain significance	19	18144493	18144493	Human	1	name
405658960	CV3277948	single nucleotide variant	NM_001393504.1(MAST3):c.1087C>T (p.Pro363Ser)	Inborn genetic diseases [RCV004416623]	uncertain significance	19	18128408	18128408	Human	1	name
405658964	CV3277949	single nucleotide variant	NM_001393504.1(MAST3):c.1247G>A (p.Arg416His)	Inborn genetic diseases [RCV004416624]	likely benign	19	18130517	18130517	Human	1	name
405658968	CV3277950	single nucleotide variant	NM_001393504.1(MAST3):c.1261C>T (p.Arg421Cys)	Inborn genetic diseases [RCV004416625]	uncertain significance	19	18130531	18130531	Human	1	name
405658980	CV3277953	single nucleotide variant	NM_001393504.1(MAST3):c.1897G>A (p.Glu633Lys)	Inborn genetic diseases [RCV004416628]	uncertain significance	19	18135766	18135766	Human	1	name
405658984	CV3277954	single nucleotide variant	NM_001393504.1(MAST3):c.2136C>G (p.Asp712Glu)	Inborn genetic diseases [RCV004416629]	likely benign	19	18139055	18139055	Human	1	name
405658989	CV3277955	single nucleotide variant	NM_001393504.1(MAST3):c.2312A>G (p.Tyr771Cys)	Inborn genetic diseases [RCV004416630]	uncertain significance	19	18141988	18141988	Human	1	name
405658992	CV3277956	single nucleotide variant	NM_001393504.1(MAST3):c.2548G>T (p.Ala850Ser)	Inborn genetic diseases [RCV004416631]	likely benign	19	18143971	18143971	Human	1	name
405658996	CV3277957	single nucleotide variant	NM_001393504.1(MAST3):c.2632G>A (p.Gly878Ser)	Inborn genetic diseases [RCV004416632]	uncertain significance	19	18144513	18144513	Human	1	name
405659001	CV3277958	single nucleotide variant	NM_001393504.1(MAST3):c.2675G>A (p.Gly892Asp)	Inborn genetic diseases [RCV004416633]	uncertain significance	19	18144556	18144556	Human	1	name
405659004	CV3277959	single nucleotide variant	NM_001393504.1(MAST3):c.2690G>T (p.Gly897Val)	Inborn genetic diseases [RCV004416634]	uncertain significance	19	18144571	18144571	Human	1	name
405659008	CV3277960	single nucleotide variant	NM_001393504.1(MAST3):c.2734G>A (p.Gly912Ser)	Inborn genetic diseases [RCV004416635]	likely benign	19	18144615	18144615	Human	1	name
405659012	CV3277961	single nucleotide variant	NM_001393504.1(MAST3):c.2802C>G (p.Ile934Met)	Inborn genetic diseases [RCV004416636]	uncertain significance	19	18144683	18144683	Human	1	name
405659016	CV3277962	single nucleotide variant	NM_001393504.1(MAST3):c.2906C>T (p.Pro969Leu)	Inborn genetic diseases [RCV004416637]	uncertain significance	19	18145096	18145096	Human	1	name
407428419	CV3410212	single nucleotide variant	NM_001393504.1(MAST3):c.2681G>A (p.Arg894His)	not specified [RCV004587819]	uncertain significance	19	18144562	18144562	Human		name
407472591	CV3456961	single nucleotide variant	NM_001393504.1(MAST3):c.2134G>A (p.Asp712Asn)	Inborn genetic diseases [RCV004637647]	likely benign	19	18139053	18139053	Human	1	name
407472596	CV3456962	single nucleotide variant	NM_001393504.1(MAST3):c.1748G>A (p.Arg583His)	Inborn genetic diseases [RCV004637648]	uncertain significance	19	18134860	18134860	Human	1	name
407469314	CV3456964	single nucleotide variant	NM_001393504.1(MAST3):c.2416C>A (p.Leu806Ile)	Inborn genetic diseases [RCV004636582]	likely benign	19	18143839	18143839	Human	1	name
407472599	CV3456965	single nucleotide variant	NM_001393504.1(MAST3):c.1153G>C (p.Gly385Arg)	Inborn genetic diseases [RCV004637649]	uncertain significance	19	18128881	18128881	Human	1	name
407472604	CV3456966	single nucleotide variant	NM_001393504.1(MAST3):c.1915G>A (p.Ala639Thr)	Inborn genetic diseases [RCV004637650]	uncertain significance	19	18135784	18135784	Human	1	name
408369424	CV3511140	single nucleotide variant	NM_001393504.1(MAST3):c.2546C>T (p.Ala849Val)	MAST3-related disorder [RCV004736919]	likely benign	19	18143969	18143969	Human		name , trait
408393726	CV3519748	single nucleotide variant	NM_001393504.1(MAST3):c.2098C>T (p.Arg700Cys)	not provided [RCV004764044]	uncertain significance	19	18139017	18139017	Human		name
408394589	CV3521507	single nucleotide variant	NM_001393504.1(MAST3):c.1102G>A (p.Glu368Lys)	Developmental and epileptic encephalopathy 108 [RCV004764304]\|Inborn genetic diseases [RCV005363357]	pathogenic\|uncertain significance	19	18128423	18128423	Human	2	name
408388815	CV3522787	single nucleotide variant	NM_001393504.1(MAST3):c.2177T>A (p.Phe726Tyr)	not provided [RCV004769168]	uncertain significance	19	18139096	18139096	Human		name
408382120	CV3523983	single nucleotide variant	NM_001393504.1(MAST3):c.1303C>G (p.Arg435Gly)	not provided [RCV004766381]	uncertain significance	19	18130573	18130573	Human		name
596929948	CV3531257	single nucleotide variant	NM_001393504.1(MAST3):c.2212A>G (p.Ser738Gly)	not provided [RCV004779831]	uncertain significance	19	18141888	18141888	Human		name
596921137	CV3534754	single nucleotide variant	NM_001393504.1(MAST3):c.1274A>G (p.Lys425Arg)	not provided [RCV004784311]	uncertain significance	19	18130544	18130544	Human		name
596938319	CV3550162	single nucleotide variant	NM_001393504.1(MAST3):c.2680C>T (p.Arg894Cys)	Developmental and epileptic encephalopathy 108 [RCV004813464]	uncertain significance	19	18144561	18144561	Human	1	name
597649738	CV3551804	single nucleotide variant	NM_001393504.1(MAST3):c.1873G>A (p.Glu625Lys)	not provided [RCV004820517]	uncertain significance	19	18135742	18135742	Human		name
597688195	CV3697733	single nucleotide variant	NM_001393504.1(MAST3):c.1189G>A (p.Glu397Lys)	Inborn genetic diseases [RCV004984405]	uncertain significance	19	18128917	18128917	Human	1	name
597688936	CV3697735	single nucleotide variant	NM_001393504.1(MAST3):c.2590A>G (p.Thr864Ala)	Inborn genetic diseases [RCV004984407]	uncertain significance	19	18144471	18144471	Human	1	name
597688213	CV3697736	single nucleotide variant	NM_001393504.1(MAST3):c.1819G>A (p.Val607Met)	Inborn genetic diseases [RCV004984408]	uncertain significance	19	18134931	18134931	Human	1	name
597688225	CV3697738	single nucleotide variant	NM_001393504.1(MAST3):c.2320C>T (p.Arg774Trp)	Inborn genetic diseases [RCV004984410]	uncertain significance	19	18141996	18141996	Human	1	name
597688234	CV3697739	single nucleotide variant	NM_001393504.1(MAST3):c.1961G>A (p.Arg654His)	Inborn genetic diseases [RCV004984411]	uncertain significance	19	18135830	18135830	Human	1	name
597688248	CV3697741	single nucleotide variant	NM_001393504.1(MAST3):c.1693A>G (p.Ile565Val)	Inborn genetic diseases [RCV004984413]	likely benign	19	18134700	18134700	Human	1	name
597688256	CV3697742	single nucleotide variant	NM_001393504.1(MAST3):c.2762G>A (p.Arg921His)	Inborn genetic diseases [RCV004984414]	uncertain significance	19	18144643	18144643	Human	1	name
597688272	CV3697744	single nucleotide variant	NM_001393504.1(MAST3):c.1219T>C (p.Tyr407His)	Inborn genetic diseases [RCV004984416]	uncertain significance	19	18128947	18128947	Human	1	name
597688283	CV3697746	single nucleotide variant	NM_001393504.1(MAST3):c.1890G>T (p.Glu630Asp)	Inborn genetic diseases [RCV004984418]	likely benign	19	18135759	18135759	Human	1	name
597688290	CV3697747	single nucleotide variant	NM_001393504.1(MAST3):c.2529G>T (p.Glu843Asp)	Inborn genetic diseases [RCV004984419]	uncertain significance	19	18143952	18143952	Human	1	name
597688302	CV3697749	single nucleotide variant	NM_001393504.1(MAST3):c.1556A>G (p.Asp519Gly)	Inborn genetic diseases [RCV004984421]	likely pathogenic\|uncertain significance	19	18132032	18132032	Human	1	name
597656029	CV3731535	single nucleotide variant	NM_001393504.1(MAST3):c.2458T>G (p.Phe820Val)	not provided [RCV005001716]	uncertain significance	19	18143881	18143881	Human		name
597831882	CV3863974	single nucleotide variant	NM_001393504.1(MAST3):c.1876A>G (p.Ile626Val)	Developmental and epileptic encephalopathy 108 [RCV005208389]	uncertain significance	19	18135745	18135745	Human	1	name
597831924	CV3863994	single nucleotide variant	NM_001393504.1(MAST3):c.1350T>G (p.Phe450Leu)	Developmental and epileptic encephalopathy 108 [RCV005208409]	uncertain significance	19	18130620	18130620	Human	1	name
598127237	CV3882528	single nucleotide variant	NM_001393504.1(MAST3):c.2582C>T (p.Ser861Phe)	not provided [RCV005234080]	uncertain significance	19	18144005	18144005	Human		name
598127761	CV3882864	single nucleotide variant	NM_001393504.1(MAST3):c.2884G>C (p.Asp962His)	Developmental and epileptic encephalopathy 108 [RCV005234395]	uncertain significance	19	18145074	18145074	Human	1	name
598125625	CV3885858	single nucleotide variant	NM_001393504.1(MAST3):c.2842C>G (p.Pro948Ala)	not provided [RCV005241661]	uncertain significance	19	18145032	18145032	Human		name
598159965	CV3897194	single nucleotide variant	NM_001393504.1(MAST3):c.1906C>A (p.Pro636Thr)	not provided [RCV005368168]	uncertain significance	19	18135775	18135775	Human		name
598199225	CV3981644	single nucleotide variant	NM_001393504.1(MAST3):c.2102C>T (p.Ser701Leu)	Inborn genetic diseases [RCV005375667]	uncertain significance	19	18139021	18139021	Human	1	name
598199235	CV3981648	single nucleotide variant	NM_001393504.1(MAST3):c.2677C>T (p.Arg893Cys)	Inborn genetic diseases [RCV005375669]	uncertain significance	19	18144558	18144558	Human	1	name
598177187	CV3981649	single nucleotide variant	NM_001393504.1(MAST3):c.2839A>G (p.Ser947Gly)	Inborn genetic diseases [RCV005371555]	uncertain significance	19	18145029	18145029	Human	1	name
616935944	CV4015909	deletion	NM_001393504.1(MAST3):c.3657del (p.Ser1220fs)	not provided [RCV005414773]	uncertain significance	19	18149338	18149338	Human		name
617153307	CV4018596	single nucleotide variant	NM_001393504.1(MAST3):c.2678G>A (p.Arg893His)	not specified [RCV005418858]	uncertain significance	19	18144559	18144559	Human		name
617151071	CV4019277	single nucleotide variant	NM_001393504.1(MAST3):c.1539T>A (p.Tyr513Ter)	not provided [RCV005423685]	uncertain significance	19	18132015	18132015	Human		name
38462261	CV919842	single nucleotide variant	NM_001393504.1(MAST3):c.2041A>T (p.Lys681Ter)	not provided [RCV001198347]	uncertain significance	19	18137307	18137307	Human		name
153346413	CV1691699	single nucleotide variant	NM_001393504.1(MAST3):c.3853G>A (p.Glu1285Lys)	Developmental and epileptic encephalopathy [RCV002273182]\|not specified [RCV004782912]	uncertain significance	19	18149535	18149535	Human	1	name
156250488	CV2232180	single nucleotide variant	NM_001393504.1(MAST3):c.3722C>T (p.Ser1241Leu)	Inborn genetic diseases [RCV002713946]	uncertain significance	19	18149404	18149404	Human	1	name
156027746	CV2242486	single nucleotide variant	NM_001393504.1(MAST3):c.3152T>G (p.Leu1051Arg)	Inborn genetic diseases [RCV002757838]	uncertain significance	19	18145855	18145855	Human	1	name
156346666	CV2300658	single nucleotide variant	NM_001393504.1(MAST3):c.3959C>T (p.Thr1320Ile)	Inborn genetic diseases [RCV002900937]	uncertain significance	19	18149641	18149641	Human	1	name
155905624	CV2303151	single nucleotide variant	NM_001393504.1(MAST3):c.3082G>T (p.Ala1028Ser)	Inborn genetic diseases [RCV002901743]	uncertain significance	19	18145785	18145785	Human	1	name
155928799	CV2346833	single nucleotide variant	NM_001393504.1(MAST3):c.3713G>A (p.Arg1238His)	Inborn genetic diseases [RCV002970412]\|not provided [RCV003883932]	likely benign	19	18149395	18149395	Human	1	name
156212948	CV2385818	single nucleotide variant	NM_001393504.1(MAST3):c.3260G>A (p.Arg1087His)	Inborn genetic diseases [RCV002744196]	likely benign	19	18146978	18146978	Human	1	name
329355712	CV2434354	single nucleotide variant	NM_001393504.1(MAST3):c.3226G>A (p.Ala1076Thr)	Inborn genetic diseases [RCV003177897]	likely benign	19	18146944	18146944	Human	1	name
329390717	CV2437182	single nucleotide variant	NM_001393504.1(MAST3):c.3799A>T (p.Thr1267Ser)	Inborn genetic diseases [RCV003191744]	uncertain significance	19	18149481	18149481	Human	1	name
329359674	CV2462170	single nucleotide variant	NM_001393504.1(MAST3):c.3769C>T (p.Arg1257Cys)	Inborn genetic diseases [RCV003204607]	likely benign	19	18149451	18149451	Human	1	name
329847462	CV2524298	single nucleotide variant	NM_001393504.1(MAST3):c.3406C>T (p.His1136Tyr)	Inborn genetic diseases [RCV004285615]\|not provided [RCV003227190]	uncertain significance	19	18147522	18147522	Human	1	name
401781624	CV2682065	single nucleotide variant	NM_001393504.1(MAST3):c.3668C>T (p.Pro1223Leu)	Inborn genetic diseases [RCV003265293]	uncertain significance	19	18149350	18149350	Human	1	name
401737360	CV2718080	single nucleotide variant	NM_001393504.1(MAST3):c.3277C>T (p.Arg1093Cys)	Inborn genetic diseases [RCV003273402]	uncertain significance	19	18146995	18146995	Human	1	name
401746532	CV2731847	single nucleotide variant	NM_001393504.1(MAST3):c.3951G>C (p.Glu1317Asp)	Inborn genetic diseases [RCV003293780]	likely benign	19	18149633	18149633	Human	1	name
401892003	CV2780772	single nucleotide variant	NM_001393504.1(MAST3):c.3998G>C (p.Gly1333Ala)	Inborn genetic diseases [RCV003369626]	uncertain significance	19	18149680	18149680	Human	1	name
405289157	CV3218127	single nucleotide variant	NM_001393504.1(MAST3):c.3767T>C (p.Leu1256Pro)	MAST3-related disorder [RCV004544174]	uncertain significance	19	18149449	18149449	Human		name , trait
405659019	CV3277963	single nucleotide variant	NM_001393504.1(MAST3):c.3010G>A (p.Asp1004Asn)	Inborn genetic diseases [RCV004416638]	uncertain significance	19	18145200	18145200	Human	1	name
405659023	CV3277964	single nucleotide variant	NM_001393504.1(MAST3):c.3013G>A (p.Val1005Ile)	Inborn genetic diseases [RCV004416639]	uncertain significance	19	18145203	18145203	Human	1	name
405659027	CV3277965	single nucleotide variant	NM_001393504.1(MAST3):c.3034G>A (p.Val1012Ile)	Inborn genetic diseases [RCV004416640]	uncertain significance	19	18145224	18145224	Human	1	name
405659030	CV3277966	single nucleotide variant	NM_001393504.1(MAST3):c.3071C>T (p.Ala1024Val)	Inborn genetic diseases [RCV004416641]	uncertain significance	19	18145774	18145774	Human	1	name
405659035	CV3277967	single nucleotide variant	NM_001393504.1(MAST3):c.3178T>A (p.Ser1060Thr)	Inborn genetic diseases [RCV004416642]	uncertain significance	19	18146896	18146896	Human	1	name
405659042	CV3277969	single nucleotide variant	NM_001393504.1(MAST3):c.3478T>G (p.Cys1160Gly)	Inborn genetic diseases [RCV004416644]	uncertain significance	19	18147594	18147594	Human	1	name
405659045	CV3277970	single nucleotide variant	NM_001393504.1(MAST3):c.3584G>A (p.Arg1195His)	Inborn genetic diseases [RCV004416645]	likely benign	19	18149266	18149266	Human	1	name
405659050	CV3277971	single nucleotide variant	NM_001393504.1(MAST3):c.3770G>A (p.Arg1257His)	Inborn genetic diseases [RCV004416646]	likely benign	19	18149452	18149452	Human	1	name
407469312	CV3456963	single nucleotide variant	NM_001393504.1(MAST3):c.4024G>A (p.Gly1342Arg)	Inborn genetic diseases [RCV004636581]	likely benign	19	18149706	18149706	Human	1	name
407472608	CV3456967	single nucleotide variant	NM_001393504.1(MAST3):c.3622C>T (p.Pro1208Ser)	Inborn genetic diseases [RCV004637651]	uncertain significance	19	18149304	18149304	Human	1	name
407469316	CV3456968	single nucleotide variant	NM_001393504.1(MAST3):c.3179C>A (p.Ser1060Tyr)	Inborn genetic diseases [RCV004636583]	uncertain significance	19	18146897	18146897	Human	1	name
407469319	CV3456969	single nucleotide variant	NM_001393504.1(MAST3):c.3809G>A (p.Arg1270Gln)	Inborn genetic diseases [RCV004636584]	uncertain significance	19	18149491	18149491	Human	1	name
407472612	CV3456970	single nucleotide variant	NM_001393504.1(MAST3):c.3615G>C (p.Lys1205Asn)	Inborn genetic diseases [RCV004637652]	uncertain significance	19	18149297	18149297	Human	1	name
408380916	CV3501337	single nucleotide variant	NM_001393504.1(MAST3):c.3493C>A (p.Pro1165Thr)	not provided [RCV004727426]	uncertain significance	19	18147609	18147609	Human		name
408385431	CV3520141	single nucleotide variant	NM_001393504.1(MAST3):c.3586C>T (p.Pro1196Ser)	not provided [RCV004759962]	uncertain significance	19	18149268	18149268	Human		name
408382130	CV3523982	single nucleotide variant	NM_001393504.1(MAST3):c.3707C>T (p.Pro1236Leu)	not provided [RCV004766380]	uncertain significance	19	18149389	18149389	Human		name
408386427	CV3528921	single nucleotide variant	NM_001393504.1(MAST3):c.3065A>G (p.Gln1022Arg)	not provided [RCV004772754]	uncertain significance	19	18145768	18145768	Human		name
596922135	CV3529704	single nucleotide variant	NM_001393504.1(MAST3):c.3895G>T (p.Asp1299Tyr)	Developmental and epileptic encephalopathy 108 [RCV004776562]	likely pathogenic	19	18149577	18149577	Human	1	name
597688240	CV3697740	single nucleotide variant	NM_001393504.1(MAST3):c.3383G>A (p.Arg1128His)	Inborn genetic diseases [RCV004984412]	uncertain significance	19	18147499	18147499	Human	1	name
597688263	CV3697743	single nucleotide variant	NM_001393504.1(MAST3):c.4000G>A (p.Glu1334Lys)	Inborn genetic diseases [RCV004984415]	uncertain significance	19	18149682	18149682	Human	1	name
597688312	CV3697750	single nucleotide variant	NM_001393504.1(MAST3):c.3629G>A (p.Arg1210His)	Inborn genetic diseases [RCV004984422]	uncertain significance	19	18149311	18149311	Human	1	name
598177177	CV3981645	single nucleotide variant	NM_001393504.1(MAST3):c.3796G>A (p.Gly1266Ser)	Inborn genetic diseases [RCV005371553]	uncertain significance	19	18149478	18149478	Human	1	name
598177182	CV3981646	single nucleotide variant	NM_001393504.1(MAST3):c.4027C>T (p.Pro1343Ser)	Inborn genetic diseases [RCV005371554]	uncertain significance	19	18149709	18149709	Human	1	name
598199242	CV3981650	single nucleotide variant	NM_001393504.1(MAST3):c.4039G>C (p.Asp1347His)	Inborn genetic diseases [RCV005375670]	uncertain significance	19	18149721	18149721	Human	1	name
617153634	CV4016708	single nucleotide variant	NM_001393504.1(MAST3):c.3617T>G (p.Leu1206Arg)	not provided [RCV005415805]	uncertain significance	19	18149299	18149299	Human		name
408373109	CV3502131	deletion	NM_001393504.1(MAST3):c.3725_3746del (p.Pro1242fs)	not provided [RCV004725718]	uncertain significance	19	18149404	18149425	Human		name
408391877	CV3523480	deletion	NM_001393504.1(MAST3):c.3898_3899del (p.Ser1300fs)	not provided [RCV004770854]	uncertain significance	19	18149579	18149580	Human		name
155642575	CV1706303	indel	NM_001393504.1(MAST3):c.327_328delinsGA (p.Asp109_Gly110delinsGluSer)	not provided [RCV002287167]	uncertain significance	19	18122679	18122680	Human		name
597648501	CV3551727	duplication	NM_001393504.1(MAST3):c.3283_3300dup (p.Arg1100_Cys1101insArgGluThrGlnAspArg)	not provided [RCV004820440]	uncertain significance	19	18146996	18146997	Human		name

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