Actl6b Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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136 records found for search term Actl6b

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
616939504	CV4013997	single nucleotide variant	NM_016188.5(ACTL6B):c.-6G>A	not provided [RCV005413489]	likely benign	7	100656360	100656360	Human		name
150404511	CV1178902	single nucleotide variant	NM_016188.5(ACTL6B):c.*98T>A	Developmental and epileptic encephalopathy, 76 [RCV001548837]\|Intellectual developmental disorder with severe speech and ambulation defects [RCV001548838]\|not provided [RCV004713055]	benign	7	100643148	100643148	Human	2	name
152980143	CV1678432	single nucleotide variant	NM_016188.5(ACTL6B):c.-50G>C	not specified [RCV002246938]	uncertain significance	7	100656404	100656404	Human		name
243063156	CV2414528	single nucleotide variant	NM_016188.5(ACTL6B):c.26-5C>T	not provided [RCV003141181]	uncertain significance	7	100655884	100655884	Human		name
155960920	CV1936523	single nucleotide variant	NM_016188.5(ACTL6B):c.936+5G>C	not provided [RCV002512340]	uncertain significance	7	100646966	100646966	Human		name
243062469	CV2404914	single nucleotide variant	NM_016188.5(ACTL6B):c.369+1G>C	Developmental and epileptic encephalopathy, 76 [RCV003140463]	likely pathogenic	7	100655018	100655018	Human	1	name
401867250	CV2503073	single nucleotide variant	NM_016188.5(ACTL6B):c.370-1G>A	Developmental and epileptic encephalopathy, 76 [RCV003331535]	uncertain significance	7	100650136	100650136	Human	1	name
401867255	CV2503078	single nucleotide variant	NM_016188.5(ACTL6B):c.760-1G>A	Developmental and epileptic encephalopathy, 76 [RCV003331540]	uncertain significance	7	100647285	100647285	Human	1	name
401901630	CV2802048	single nucleotide variant	NM_016188.5(ACTL6B):c.562+5G>A	ACTL6B-related disorder [RCV003392978]	uncertain significance	7	100648724	100648724	Human		name , trait , alternate_id
405271424	CV3202805	single nucleotide variant	NM_016188.5(ACTL6B):c.103-8C>A	ACTL6B-related disorder [RCV003913871]	likely benign	7	100655594	100655594	Human		name , trait , alternate_id
597833743	CV3735687	single nucleotide variant	NM_016188.5(ACTL6B):c.370-2A>G	not provided [RCV005063549]	likely pathogenic	7	100650137	100650137	Human		name
25319086	CV816518	single nucleotide variant	NM_016188.5(ACTL6B):c.669+1G>A	ACTL6B-related recessive epilepsy [RCV001028085]	likely pathogenic	7	100648555	100648555	Human		name , trait
401866733	CV2503068	single nucleotide variant	NM_016188.5(ACTL6B):c.1114-1G>A	Developmental and epileptic encephalopathy, 76 [RCV003331530]	pathogenic	7	100646336	100646336	Human	1	name
405873329	CV3398499	single nucleotide variant	NM_016188.5(ACTL6B):c.1113+2T>A	not provided [RCV004575995]	uncertain significance	7	100646549	100646549	Human		name
598124084	CV3884143	single nucleotide variant	NM_016188.5(ACTL6B):c.1113+1G>T	Congenital generalized lipodystrophy type 2 [RCV005234911]	likely pathogenic	7	100646550	100646550	Human	1	name
598125830	CV3883287	duplication	NM_016188.5(ACTL6B):c.11dup (p.Val5fs)	Developmental and epileptic encephalopathy, 76 [RCV005233162]	likely pathogenic	7	100656343	100656344	Human	1	name
401908894	CV2825947	single nucleotide variant	NM_016188.5(ACTL6B):c.150C>T (p.Gly50=)	not provided [RCV003423676]	likely benign	7	100655539	100655539	Human		name
405295408	CV3209591	single nucleotide variant	NM_016188.5(ACTL6B):c.201C>A (p.Ile67=)	ACTL6B-related disorder [RCV003937298]	likely benign	7	100655488	100655488	Human		name , trait , alternate_id
405285972	CV3209808	single nucleotide variant	NM_016188.5(ACTL6B):c.207C>G (p.Thr69=)	ACTL6B-related disorder [RCV003959355]	likely benign	7	100655482	100655482	Human		name , trait , alternate_id
596947685	CV3547266	single nucleotide variant	NM_016188.5(ACTL6B):c.216G>T (p.Leu72=)	not provided [RCV004811570]	likely benign	7	100655473	100655473	Human		name
153305233	CV1687630	single nucleotide variant	NM_016188.5(ACTL6B):c.852C>T (p.Tyr284=)	not provided [RCV002263451]	benign\|likely benign	7	100647055	100647055	Human		name
153349755	CV1693919	single nucleotide variant	NM_016188.5(ACTL6B):c.387G>A (p.Lys129=)	not provided [RCV002276173]	likely benign	7	100650118	100650118	Human		name
155733060	CV1781065	single nucleotide variant	NM_016188.5(ACTL6B):c.50A>C (p.Asp17Ala)	not provided [RCV002308853]	uncertain significance	7	100655855	100655855	Human		name
155796386	CV1861821	single nucleotide variant	NM_016188.5(ACTL6B):c.993C>T (p.Gly331=)	not specified [RCV002470103]	likely benign	7	100646775	100646775	Human		name
329401749	CV2457364	single nucleotide variant	NM_016188.5(ACTL6B):c.71G>T (p.Arg24Leu)	Inborn genetic diseases [RCV003198762]	uncertain significance	7	100655834	100655834	Human	1	name
401866725	CV2503064	single nucleotide variant	NM_016188.5(ACTL6B):c.70C>T (p.Arg24Cys)	Developmental and epileptic encephalopathy, 76 [RCV003331526]	likely pathogenic	7	100655835	100655835	Human	1	name
401866738	CV2503071	single nucleotide variant	NM_016188.5(ACTL6B):c.85G>A (p.Gly29Arg)	Developmental and epileptic encephalopathy, 76 [RCV003331533]	likely pathogenic	7	100655820	100655820	Human	1	name
401727123	CV2736241	single nucleotide variant	NM_016188.5(ACTL6B):c.699C>T (p.Asn233=)	not provided [RCV003312689]	likely benign	7	100647504	100647504	Human		name
401908888	CV2825942	single nucleotide variant	NM_016188.5(ACTL6B):c.885C>T (p.Gly295=)	not provided [RCV003423672]	likely benign	7	100647022	100647022	Human		name
401922639	CV2825943	single nucleotide variant	NM_016188.5(ACTL6B):c.786C>T (p.Ser262=)	not provided [RCV003433982]	likely benign	7	100647258	100647258	Human		name
401908891	CV2825945	single nucleotide variant	NM_016188.5(ACTL6B):c.660C>T (p.Ile220=)	not provided [RCV003423674]	likely benign	7	100648565	100648565	Human		name
401908892	CV2825946	single nucleotide variant	NM_016188.5(ACTL6B):c.588G>C (p.Gly196=)	ACTL6B-related disorder [RCV003980941]\|not provided [RCV003423675]	likely benign	7	100648637	100648637	Human	1	name , trait , alternate_id
405274953	CV3204507	single nucleotide variant	NM_016188.5(ACTL6B):c.546C>T (p.Gly182=)	ACTL6B-related disorder [RCV003951937]	likely benign	7	100648745	100648745	Human		name , trait , alternate_id
405852977	CV3393406	single nucleotide variant	NM_016188.5(ACTL6B):c.633C>T (p.Ala211=)	not provided [RCV004546136]	likely benign	7	100648592	100648592	Human		name
408392439	CV3525236	single nucleotide variant	NM_016188.5(ACTL6B):c.64T>C (p.Ser22Pro)	not provided [RCV004771122]	uncertain significance	7	100655841	100655841	Human		name
40888439	CV971427	deletion	NM_016188.5(ACTL6B):c.229del (p.Asp77fs)	Developmental and epileptic encephalopathy, 76 [RCV004799538]	uncertain significance	7	100655460	100655460	Human	1	name
150436388	CV1274965	single nucleotide variant	NM_016188.5(ACTL6B):c.144G>C (p.Glu48Asp)	not provided [RCV001702303]	likely benign	7	100655545	100655545	Human		name
151733101	CV1336492	deletion	NM_016188.5(ACTL6B):c.465del (p.Ala156fs)	Autism spectrum disorder [RCV001849720]	pathogenic	7	100650040	100650040	Human	2	name
155644520	CV1708687	single nucleotide variant	NM_016188.5(ACTL6B):c.155T>C (p.Leu52Pro)	Intellectual developmental disorder with severe speech and ambulation defects [RCV002291234]	uncertain significance	7	100655534	100655534	Human	1	name
156265720	CV2312254	single nucleotide variant	NM_016188.5(ACTL6B):c.245T>A (p.Met82Lys)	Inborn genetic diseases [RCV002920787]	uncertain significance	7	100655444	100655444	Human	1	name
243053490	CV2416327	single nucleotide variant	NM_016188.5(ACTL6B):c.202G>A (p.Asp68Asn)	not provided [RCV003149388]	uncertain significance	7	100655487	100655487	Human		name
401867212	CV2503072	single nucleotide variant	NM_016188.5(ACTL6B):c.279G>A (p.Trp93Ter)	Developmental and epileptic encephalopathy, 76 [RCV003331534]	pathogenic	7	100655109	100655109	Human	1	name
401866760	CV2503075	deletion	NM_016188.5(ACTL6B):c.628del (p.Met210fs)	Developmental and epileptic encephalopathy, 76 [RCV003331537]	pathogenic	7	100648597	100648597	Human	1	name
401854372	CV2503076	duplication	NM_016188.5(ACTL6B):c.695dup (p.Asn233fs)	Developmental and epileptic encephalopathy, 76 [RCV003331538]	likely pathogenic	7	100647507	100647508	Human	1	name
401855646	CV2753064	single nucleotide variant	NM_016188.5(ACTL6B):c.112C>G (p.Pro38Ala)	Intellectual developmental disorder with severe speech and ambulation defects [RCV003338119]	uncertain significance	7	100655577	100655577	Human	1	name
405280894	CV3190629	single nucleotide variant	NM_016188.5(ACTL6B):c.1242G>A (p.Glu414=)	ACTL6B-related disorder [RCV003907067]	likely benign	7	100643285	100643285	Human		name , trait , alternate_id
405718401	CV3227735	deletion	NM_016188.5(ACTL6B):c.445del (p.Cys149fs)	Intellectual developmental disorder with severe speech and ambulation defects [RCV003992076]	likely pathogenic	7	100650060	100650060	Human	1	name
408389847	CV3524791	single nucleotide variant	NM_016188.5(ACTL6B):c.227G>A (p.Arg76Gln)	not provided [RCV004769686]	uncertain significance	7	100655462	100655462	Human		name
598174684	CV3890915	single nucleotide variant	NM_016188.5(ACTL6B):c.208A>G (p.Asn70Asp)	not provided [RCV005251768]	uncertain significance	7	100655481	100655481	Human		name
616934091	CV4012074	single nucleotide variant	NM_016188.5(ACTL6B):c.245T>C (p.Met82Thr)	not specified [RCV005409108]	uncertain significance	7	100655444	100655444	Human		name
14695729	CV622944	single nucleotide variant	NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly)	Autism [RCV001028075]\|Intellectual developmental disorder with severe speech and ambulation defects [RCV000785975]	pathogenic\|likely pathogenic\|uncertain significance	7	100655459	100655459	Human	3	name , alternate_id
15015276	CV679884	single nucleotide variant	NM_016188.5(ACTL6B):c.289C>T (p.Arg97Ter)	ACTL6B-related recessive epilepsy [RCV001028086]\|Developmental and epileptic encephalopathy, 76 [RCV000853481]\|Intellectual developmental disorder with severe speech and ambulation defects [RCV004768716]	likely pathogenic	7	100655099	100655099	Human	2	name , trait
25319080	CV816517	deletion	NM_016188.5(ACTL6B):c.695del (p.Pro232fs)	ACTL6B-related BAFopathy [RCV001533051]\|ACTL6B-related recessive epilepsy [RCV001028077]\|Developmental and epileptic encephalopathy, 76 [RCV002051910]\|not provided [RCV001815492]	pathogenic\|likely pathogenic\|uncertain significance	7	100647508	100647508	Human	1	name , trait
8632227	CV87433	single nucleotide variant	NM_016188.4(ACTL6B):c.1050G>A (p.Gly350=)	Malignant melanoma [RCV000067524]	not provided	7	100646614	100646614	Human		name
127261670	CV1087335	single nucleotide variant	NM_016188.5(ACTL6B):c.889G>A (p.Glu297Lys)	Developmental and epileptic encephalopathy, 76 [RCV001420568]\|Inborn genetic diseases [RCV004038181]	uncertain significance	7	100647018	100647018	Human	2	name
150555832	CV1305319	single nucleotide variant	NM_016188.5(ACTL6B):c.603G>A (p.Met201Ile)	Inborn genetic diseases [RCV005308507]\|not provided [RCV001773252]	uncertain significance	7	100648622	100648622	Human	1	name
151355784	CV1326968	single nucleotide variant	NM_016188.5(ACTL6B):c.652T>C (p.Tyr218His)	not provided [RCV001822137]	likely pathogenic\|conflicting interpretations of pathogenicity	7	100648573	100648573	Human		name
151355785	CV1326969	single nucleotide variant	NM_016188.5(ACTL6B):c.388C>T (p.Arg130Trp)	not provided [RCV001822138]	likely pathogenic	7	100650117	100650117	Human		name
151733084	CV1336489	single nucleotide variant	NM_016188.5(ACTL6B):c.460C>T (p.Leu154Phe)	Autism spectrum disorder [RCV001849717]	pathogenic	7	100650045	100650045	Human	2	name
151733091	CV1336490	single nucleotide variant	NM_016188.5(ACTL6B):c.892C>T (p.Arg298Ter)	Autism spectrum disorder [RCV001849718]	pathogenic	7	100647015	100647015	Human	2	name
151733095	CV1336491	single nucleotide variant	NM_016188.5(ACTL6B):c.523A>C (p.Thr175Pro)	Autism spectrum disorder [RCV001849719]	pathogenic	7	100648768	100648768	Human	2	name
151761790	CV1358305	single nucleotide variant	NM_016188.5(ACTL6B):c.520A>G (p.Thr174Ala)	not provided [RCV001928609]	uncertain significance	7	100648771	100648771	Human		name
152978459	CV1671637	deletion	NM_016188.5(ACTL6B):c.1225del (p.Ser409fs)	Developmental and epileptic encephalopathy, 76 [RCV002227742]	likely pathogenic	7	100643302	100643302	Human	1	name
153347872	CV1694920	single nucleotide variant	NM_016188.5(ACTL6B):c.554T>C (p.Leu185Pro)	Intellectual developmental disorder with severe speech and ambulation defects [RCV002278851]	likely pathogenic	7	100648737	100648737	Human	1	name
155267615	CV1705015	single nucleotide variant	NM_016188.5(ACTL6B):c.478G>A (p.Gly160Arg)	not provided [RCV002285620]	uncertain significance	7	100648813	100648813	Human		name
155642512	CV1707446	single nucleotide variant	NM_016188.5(ACTL6B):c.375C>A (p.Asn125Lys)	Intellectual developmental disorder with severe speech and ambulation defects [RCV002288376]	likely pathogenic	7	100650130	100650130	Human	1	name
156398825	CV2194808	single nucleotide variant	NM_016188.5(ACTL6B):c.814G>A (p.Asp272Asn)	Inborn genetic diseases [RCV002655743]	uncertain significance	7	100647230	100647230	Human	1	name
243063155	CV2414527	single nucleotide variant	NM_016188.5(ACTL6B):c.356T>C (p.Met119Thr)	not provided [RCV003141180]	uncertain significance	7	100655032	100655032	Human		name
243063158	CV2414530	single nucleotide variant	NM_016188.5(ACTL6B):c.329C>T (p.Ser110Phe)	not provided [RCV003141183]	uncertain significance	7	100655059	100655059	Human		name
243063306	CV2414532	single nucleotide variant	NM_016188.5(ACTL6B):c.998G>A (p.Cys333Tyr)	not provided [RCV003141185]	uncertain significance	7	100646770	100646770	Human		name
243051180	CV2415742	single nucleotide variant	NM_016188.5(ACTL6B):c.695C>G (p.Pro232Arg)	Developmental and epileptic encephalopathy, 76 [RCV003148350]\|not provided [RCV004696320]	uncertain significance	7	100647508	100647508	Human	1	name
401866727	CV2503065	single nucleotide variant	NM_016188.5(ACTL6B):c.832C>T (p.Gln278Ter)	Developmental and epileptic encephalopathy, 76 [RCV003331527]\|not provided [RCV004697275]	pathogenic\|likely pathogenic	7	100647075	100647075	Human	1	name
401866729	CV2503066	single nucleotide variant	NM_016188.5(ACTL6B):c.880T>G (p.Tyr294Asp)	Developmental and epileptic encephalopathy, 76 [RCV003331528]	likely pathogenic	7	100647027	100647027	Human	1	name
401866731	CV2503067	single nucleotide variant	NM_016188.5(ACTL6B):c.884G>A (p.Gly295Asp)	Developmental and epileptic encephalopathy, 76 [RCV003331529]	likely pathogenic	7	100647023	100647023	Human	1	name
401867254	CV2503074	single nucleotide variant	NM_016188.5(ACTL6B):c.497T>C (p.Val166Ala)	Developmental and epileptic encephalopathy, 76 [RCV003331536]	likely pathogenic	7	100648794	100648794	Human	1	name
329847752	CV2524501	single nucleotide variant	NM_016188.5(ACTL6B):c.833A>G (p.Gln278Arg)	not provided [RCV003227393]	uncertain significance	7	100647074	100647074	Human		name
401862007	CV2766545	single nucleotide variant	NM_016188.5(ACTL6B):c.679C>T (p.Arg227Trp)	Inborn genetic diseases [RCV003342999]	uncertain significance	7	100647524	100647524	Human	1	name
401932094	CV2801613	single nucleotide variant	NM_016188.5(ACTL6B):c.538C>T (p.His180Tyr)	ACTL6B-related disorder [RCV003408495]	uncertain significance	7	100648753	100648753	Human		name , trait , alternate_id
401908890	CV2825944	single nucleotide variant	NM_016188.5(ACTL6B):c.770A>G (p.Gln257Arg)	not provided [RCV003423673]	uncertain significance	7	100647274	100647274	Human		name
405281970	CV3224647	single nucleotide variant	NM_016188.5(ACTL6B):c.595A>T (p.Ile199Phe)	Developmental and epileptic encephalopathy, 76 [RCV003988982]	uncertain significance	7	100648630	100648630	Human	1	name
405697396	CV3226848	single nucleotide variant	NM_016188.5(ACTL6B):c.899G>A (p.Arg300His)	not provided [RCV003993242]	uncertain significance	7	100647008	100647008	Human		name
405721764	CV3292792	single nucleotide variant	NM_016188.5(ACTL6B):c.544G>A (p.Gly182Ser)	Inborn genetic diseases [RCV004428233]	uncertain significance	7	100648747	100648747	Human	1	name
405721826	CV3292800	single nucleotide variant	NM_016188.5(ACTL6B):c.721C>A (p.Pro241Thr)	Inborn genetic diseases [RCV004428241]	uncertain significance	7	100647482	100647482	Human	1	name
408383324	CV3503802	single nucleotide variant	NM_016188.5(ACTL6B):c.527C>T (p.Ala176Val)	ACTL6B-related disorder [RCV004730568]	uncertain significance	7	100648764	100648764	Human		name , trait , alternate_id
408386539	CV3528978	single nucleotide variant	NM_016188.5(ACTL6B):c.726G>C (p.Gln242His)	not provided [RCV004772811]	uncertain significance	7	100647477	100647477	Human		name
596923089	CV3530252	single nucleotide variant	NM_016188.5(ACTL6B):c.578C>T (p.Pro193Leu)	not provided [RCV004776851]	uncertain significance	7	100648647	100648647	Human		name
596925909	CV3536005	single nucleotide variant	NM_016188.5(ACTL6B):c.604C>T (p.Gln202Ter)	Developmental and epileptic encephalopathy, 76 [RCV004788435]	pathogenic	7	100648621	100648621	Human	1	name
596923550	CV3536074	single nucleotide variant	NM_016188.5(ACTL6B):c.922C>A (p.Pro308Thr)	Intellectual developmental disorder with severe speech and ambulation defects [RCV004788504]	uncertain significance	7	100646985	100646985	Human	1	name
596943007	CV3542718	single nucleotide variant	NM_016188.5(ACTL6B):c.611G>A (p.Arg204Gln)	not provided [RCV004798302]	uncertain significance	7	100648614	100648614	Human		name
596947405	CV3548959	single nucleotide variant	NM_016188.5(ACTL6B):c.886G>A (p.Ala296Thr)	not provided [RCV004811283]	uncertain significance	7	100647021	100647021	Human		name
596939935	CV3550692	single nucleotide variant	NM_016188.5(ACTL6B):c.359C>T (p.Ser120Phe)	not provided [RCV004814592]	uncertain significance	7	100655029	100655029	Human		name
597651373	CV3552001	single nucleotide variant	NM_016188.5(ACTL6B):c.881A>G (p.Tyr294Cys)	not provided [RCV004820714]	uncertain significance	7	100647026	100647026	Human		name
12858839	CV389133	single nucleotide variant	NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln)	Developmental and epileptic encephalopathy, 76 [RCV000785966]\|Global developmental delay [RCV000454131]	pathogenic\|likely pathogenic	7	100647014	100647014	Human	4	name
14695725	CV622936	single nucleotide variant	NM_016188.5(ACTL6B):c.999T>A (p.Cys333Ter)	Developmental and epileptic encephalopathy, 76 [RCV000785967]	pathogenic	7	100646769	100646769	Human	1	name
14696632	CV622937	single nucleotide variant	NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter)	Developmental and epileptic encephalopathy, 76 [RCV000785968]	pathogenic\|likely pathogenic	7	100647224	100647224	Human	1	name
14695727	CV622941	single nucleotide variant	NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter)	ACTL6B-related recessive epilepsy [RCV001028088]\|Developmental and epileptic encephalopathy, 76 [RCV000785972]	pathogenic\|likely pathogenic	7	100647479	100647479	Human	1	name , trait
14695728	CV622942	single nucleotide variant	NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro)	ACTL6B-related recessive epilepsy [RCV001028089]\|Developmental and epileptic encephalopathy, 76 [RCV000785973]	pathogenic\|likely pathogenic	7	100648608	100648608	Human	1	name , trait
15015280	CV679880	single nucleotide variant	NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter)	ACTL6B-related recessive epilepsy [RCV001028082]\|Developmental and epileptic encephalopathy, 76 [RCV000853485]	likely pathogenic	7	100647055	100647055	Human	1	name , trait
15015281	CV679881	single nucleotide variant	NM_016188.5(ACTL6B):c.740G>A (p.Trp247Ter)	ACTL6B-related disorder [RCV004754580]\|ACTL6B-related recessive epilepsy [RCV001028083]\|Developmental and epileptic encephalopathy, 76 [RCV000853486]\|not provided [RCV001785744]	likely pathogenic	7	100647463	100647463	Human	1	name , trait , alternate_id
15015277	CV679882	single nucleotide variant	NM_016188.5(ACTL6B):c.556C>T (p.Gln186Ter)	ACTL6B-related recessive epilepsy [RCV001028081]\|Developmental and epileptic encephalopathy, 76 [RCV000853482]	likely pathogenic	7	100648735	100648735	Human	1	name , trait
15015278	CV679883	single nucleotide variant	NM_016188.5(ACTL6B):c.389G>A (p.Arg130Gln)	ACTL6B-related recessive epilepsy [RCV001028080]\|Developmental and epileptic encephalopathy, 76 [RCV000853483]	likely pathogenic\|uncertain significance	7	100650116	100650116	Human	1	name , trait
150337899	CV1166649	single nucleotide variant	NM_016188.5(ACTL6B):c.1260C>A (p.Cys420Ter)	ACTL6B-related BAFopathy [RCV001533054]	likely pathogenic	7	100643267	100643267	Human		name , trait
151733079	CV1336488	single nucleotide variant	NM_016188.5(ACTL6B):c.1177G>A (p.Gly393Arg)	Autism spectrum disorder [RCV001849716]	pathogenic	7	100646272	100646272	Human	2	name
151733107	CV1336493	single nucleotide variant	NM_016188.5(ACTL6B):c.1249G>T (p.Gly417Trp)	Autism spectrum disorder [RCV001849721]	pathogenic	7	100643278	100643278	Human	2	name
152999052	CV1679487	single nucleotide variant	NM_016188.5(ACTL6B):c.1219T>C (p.Trp407Arg)	Developmental and epileptic encephalopathy, 76 [RCV002250876]	uncertain significance	7	100643308	100643308	Human	1	name
153305232	CV1687629	single nucleotide variant	NM_016188.5(ACTL6B):c.1121G>A (p.Arg374Gln)	not provided [RCV002263450]	likely pathogenic\|uncertain significance	7	100646328	100646328	Human		name
155268241	CV1701677	single nucleotide variant	NM_016188.5(ACTL6B):c.1027G>T (p.Gly343Trp)	Intellectual developmental disorder with severe speech and ambulation defects [RCV002283907]	likely pathogenic	7	100646637	100646637	Human	1	name
156209251	CV2304454	single nucleotide variant	NM_016188.5(ACTL6B):c.1048G>A (p.Gly350Arg)	Inborn genetic diseases [RCV002893657]	uncertain significance	7	100646616	100646616	Human	1	name
156434966	CV2403219	single nucleotide variant	NM_016188.5(ACTL6B):c.1111C>G (p.Pro371Ala)	not provided [RCV003127175]	uncertain significance	7	100646553	100646553	Human		name
243062464	CV2404908	single nucleotide variant	NM_016188.5(ACTL6B):c.1016C>T (p.Pro339Leu)	Developmental and epileptic encephalopathy, 76 [RCV003225787]	uncertain significance	7	100646752	100646752	Human	1	name
243063331	CV2414531	single nucleotide variant	NM_016188.5(ACTL6B):c.1010T>C (p.Ile337Thr)	not provided [RCV003141184]	uncertain significance	7	100646758	100646758	Human		name
401866735	CV2503069	single nucleotide variant	NM_016188.5(ACTL6B):c.1120C>T (p.Arg374Ter)	Developmental and epileptic encephalopathy, 76 [RCV003331531]	pathogenic\|likely pathogenic	7	100646329	100646329	Human	1	name
401866737	CV2503070	single nucleotide variant	NM_016188.5(ACTL6B):c.1267C>T (p.Arg423Ter)	Developmental and epileptic encephalopathy, 76 [RCV003331532]	pathogenic	7	100643260	100643260	Human	1	name
401870038	CV2749304	single nucleotide variant	NM_016188.5(ACTL6B):c.1171T>G (p.Trp391Gly)	not provided [RCV003332432]	uncertain significance	7	100646278	100646278	Human		name
401889305	CV2759770	single nucleotide variant	NM_016188.5(ACTL6B):c.1186A>G (p.Ile396Val)	Inborn genetic diseases [RCV003353835]	uncertain significance	7	100646263	100646263	Human	1	name
401907245	CV2804625	single nucleotide variant	NM_016188.5(ACTL6B):c.1156C>T (p.Arg386Cys)	ACTL6B-related disorder [RCV003422461]	uncertain significance	7	100646293	100646293	Human		name , trait , alternate_id
405265832	CV3220870	single nucleotide variant	NM_016188.5(ACTL6B):c.1184C>G (p.Ser395Cys)	ACTL6B-related disorder [RCV003969038]	uncertain significance	7	100646265	100646265	Human		name , trait , alternate_id
405721675	CV3292780	single nucleotide variant	NM_016188.5(ACTL6B):c.1135G>A (p.Ala379Thr)	Inborn genetic diseases [RCV004428221]	uncertain significance	7	100646314	100646314	Human	1	name
405721727	CV3292787	single nucleotide variant	NM_016188.5(ACTL6B):c.1249G>A (p.Gly417Arg)	Inborn genetic diseases [RCV004428228]	uncertain significance	7	100643278	100643278	Human	1	name
405854502	CV3393094	single nucleotide variant	NM_016188.5(ACTL6B):c.1223T>C (p.Ile408Thr)	not provided [RCV005363330]\|not specified [RCV004527251]	uncertain significance	7	100643304	100643304	Human		name
405872297	CV3398358	single nucleotide variant	NM_016188.5(ACTL6B):c.1261G>A (p.Val421Met)	Intellectual developmental disorder with severe speech and ambulation defects [RCV005254908]\|not provided [RCV004575359]	uncertain significance	7	100643266	100643266	Human	1	name
596925473	CV3535804	single nucleotide variant	NM_016188.5(ACTL6B):c.1157G>A (p.Arg386His)	Intellectual developmental disorder with severe speech and ambulation defects [RCV004788234]	uncertain significance	7	100646292	100646292	Human	1	name
597833764	CV3735692	single nucleotide variant	NM_016188.5(ACTL6B):c.1112C>G (p.Pro371Arg)	not provided [RCV005063554]	pathogenic	7	100646552	100646552	Human		name
598177119	CV3891044	single nucleotide variant	NM_016188.5(ACTL6B):c.1088G>A (p.Arg363Gln)	not provided [RCV005251897]	uncertain significance	7	100646576	100646576	Human		name
13208086	CV424349	single nucleotide variant	NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)	ACTL6B-related BAFopathy [RCV001533053]\|Autism [RCV001028074]\|Inborn genetic diseases [RCV002527120]\|Intellectual developmental disorder with severe speech and ambulation defects [RCV000785974]\|Intellectual disability [RCV001526602]\|not provided [RCV001381390]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	100646637	100646637	Human	7	name , trait , alternate_id
14696633	CV622938	single nucleotide variant	NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser)	ACTL6B-related recessive epilepsy [RCV001028087]\|Developmental and epileptic encephalopathy, 76 [RCV000785969]	pathogenic\|likely pathogenic	7	100646619	100646619	Human	1	name , trait
15015279	CV679879	single nucleotide variant	NM_016188.5(ACTL6B):c.1275C>A (p.Cys425Ter)	ACTL6B-related BAFopathy [RCV001533052]\|ACTL6B-related recessive epilepsy [RCV001028078]\|Developmental and epileptic encephalopathy, 76 [RCV000853484]	pathogenic\|likely pathogenic\|uncertain significance	7	100643252	100643252	Human	1	name , trait
25318898	CV816465	single nucleotide variant	NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter)	Developmental and epileptic encephalopathy, 76 [RCV001027972]	pathogenic\|likely pathogenic	7	100646577	100646577	Human	1	name
25319084	CV816516	single nucleotide variant	NM_016188.5(ACTL6B):c.1231C>T (p.Gln411Ter)	ACTL6B-related recessive epilepsy [RCV001028084]	likely pathogenic	7	100643296	100643296	Human		name , trait
40815316	CV970841	single nucleotide variant	NM_016188.5(ACTL6B):c.1000G>C (p.Asp334His)	Developmental and epileptic encephalopathy, 76 [RCV001262631]	uncertain significance	7	100646768	100646768	Human	1	name
401866763	CV2503077	microsatellite	NM_016188.5(ACTL6B):c.703AAG[2] (p.Lys237del)	Developmental and epileptic encephalopathy, 76 [RCV003331539]\|not provided [RCV005416710]	pathogenic\|uncertain significance	7	100647492	100647494	Human		name
14696634	CV622940	microsatellite	NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del)	ACTL6B-related recessive epilepsy [RCV001028076]\|Developmental and epileptic encephalopathy, 76 [RCV000785971]\|not provided [RCV004721595]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	100650062	100650064	Human		name , trait
38468493	CV933546	duplication	NM_016188.5(ACTL6B):c.407_410dup (p.Met137fs)	not provided [RCV001202220]	pathogenic	7	100650094	100650095	Human		name
329847488	CV2524322	indel	NM_016188.5(ACTL6B):c.11_12delinsAG (p.Gly4Glu)	not provided [RCV003227214]	uncertain significance	7	100656343	100656344	Human		name
14695726	CV622939	deletion	NM_016188.5(ACTL6B):c.1279del (p.Ter427AspextTer?)	ACTL6B-related recessive epilepsy [RCV001028079]\|Developmental and epileptic encephalopathy, 76 [RCV000785970]	pathogenic\|likely pathogenic	7	100643248	100643248	Human	1	name , trait
14696575	CV590563	deletion	NM_016188.5(ACTL6B):c.1261_1275del (p.Val421_Cys425del)	ACTL6B-related neurodevelopmental disorder [RCV000782175]	likely pathogenic	7	100643252	100643266	Human		name , trait

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