Chd8 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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1002 records found for search term Chd8

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8570556	CV48232	insertion	CHD8, 1-BP INS, T	Autism, susceptibility to, 18 [RCV000032833]	risk factor				Human		name
152982157	CV1679147	duplication	CHD8, 1-BP DUP, 6276A	Autism, susceptibility to, 18 [RCV002248471]	pathogenic				Human		name
150491783	CV1210422	single nucleotide variant	NM_001170629.2(CHD8):c.-6C>A	not provided [RCV001592704]	uncertain significance	14	21431649	21431649	Human		name
150544599	CV1298004	single nucleotide variant	NM_001170629.2(CHD8):c.-3A>G	not provided [RCV001773968]	uncertain significance	14	21431646	21431646	Human		name
151750648	CV1335572	single nucleotide variant	NM_001170629.2(CHD8):c.-1G>A	Inborn genetic diseases [RCV002422877]\|not provided [RCV001847414]	uncertain significance	14	21431644	21431644	Human	1	name
155696415	CV1800721	single nucleotide variant	NM_001170629.2(CHD8):c.-5C>T	Inborn genetic diseases [RCV002357979]\|not provided [RCV005242235]	likely benign	14	21431648	21431648	Human	1	name
150336760	CV1172566	deletion	NM_001170629.2(CHD8):c.*142del	not provided [RCV001541171]	benign	14	21385471	21385471	Human		name
150425360	CV1184857	single nucleotide variant	NM_001170629.2(CHD8):c.*148C>T	not provided [RCV001557896]	likely benign	14	21385465	21385465	Human		name
401798795	CV2739487	single nucleotide variant	NM_001170629.2(CHD8):c.-179T>A	not provided [RCV003319135]	uncertain significance	14	21431822	21431822	Human		name
596928856	CV3540587	single nucleotide variant	NM_001170629.2(CHD8):c.-173A>G	not provided [RCV004794915]	uncertain significance	14	21431816	21431816	Human		name
155711444	CV1824132	single nucleotide variant	NM_001170629.2(CHD8):c.844-3T>C	Inborn genetic diseases [RCV002447519]	likely benign	14	21429338	21429338	Human	1	name
156013747	CV2076430	single nucleotide variant	NM_001170629.2(CHD8):c.844-7A>G	not provided [RCV002866243]	likely benign	14	21429342	21429342	Human		name
329350205	CV2457121	deletion	NM_001170629.1(CHD8):c.5053delG	Inborn genetic diseases [RCV003208511]	pathogenic	14	21395891	21395891	Human	1	name
405043653	CV2859689	single nucleotide variant	NM_001170629.2(CHD8):c.844-1G>C	not provided [RCV003579299]	likely pathogenic	14	21429336	21429336	Human		name
408389363	CV3523034	single nucleotide variant	NM_001170629.2(CHD8):c.843+3G>T	not provided [RCV004769415]	uncertain significance	14	21430798	21430798	Human		name
150529509	CV1052866	single nucleotide variant	NM_001170629.2(CHD8):c.3308-1G>C	Intellectual developmental disorder with autism and macrocephaly [RCV001726500]	pathogenic	14	21403664	21403664	Human	1	name
8583479	CV118041	single nucleotide variant	NM_020920.3(CHD8):c.6346-2188T>G	Lung cancer [RCV000098561]	uncertain significance	14	21388364	21388364	Human		name
150497743	CV1208806	single nucleotide variant	NM_001170629.2(CHD8):c.5390+6A>G	Inborn genetic diseases [RCV002592494]\|not provided [RCV001594023]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	21394906	21394906	Human	1	name
150489319	CV1250533	single nucleotide variant	NM_001170629.2(CHD8):c.3714+4A>G	CHD8-related disorder [RCV004551969]\|not provided [RCV001674496]	benign\|likely benign	14	21403013	21403013	Human	1	name , alternate_id
150442515	CV1266243	single nucleotide variant	NM_001170629.2(CHD8):c.3882+6T>C	CHD8-related disorder [RCV004551980]\|not provided [RCV001690679]	benign\|likely benign	14	21402330	21402330	Human	1	name , alternate_id
150520976	CV1290756	single nucleotide variant	NM_001170629.2(CHD8):c.7182+4A>T	not provided [RCV001732423]	uncertain significance	14	21390943	21390943	Human		name
150540966	CV1297294	single nucleotide variant	NM_001170629.2(CHD8):c.4727+3A>G	not provided [RCV001766976]	uncertain significance	14	21400148	21400148	Human		name
150536238	CV1298654	single nucleotide variant	NM_001170629.2(CHD8):c.2226+5G>A	not provided [RCV001760802]	uncertain significance	14	21412908	21412908	Human		name
150536069	CV1312254	single nucleotide variant	NM_001170629.2(CHD8):c.2364+1G>C	Neurodevelopmental disorder [RCV001780016]	likely pathogenic	14	21409850	21409850	Human	1	name
151233655	CV1317917	single nucleotide variant	NM_001170629.2(CHD8):c.3307+1G>A	Autism spectrum disorder [RCV001787684]	not provided	14	21405208	21405208	Human		name
151234423	CV1320914	single nucleotide variant	NM_001170629.2(CHD8):c.1601+5G>A	Intellectual developmental disorder with autism and macrocephaly [RCV001801266]	likely pathogenic	14	21427864	21427864	Human	1	name
151350032	CV1324568	single nucleotide variant	NM_001170629.2(CHD8):c.2226+3G>T	Intellectual developmental disorder with autism and macrocephaly [RCV001809013]	uncertain significance	14	21412910	21412910	Human	1	name
152154690	CV1667957	single nucleotide variant	NM_001170629.2(CHD8):c.5051+4A>G	not provided [RCV002221851]	uncertain significance	14	21397819	21397819	Human		name
152982159	CV1679150	single nucleotide variant	NM_001170629.2(CHD8):c.4818-1G>A	Intellectual developmental disorder with autism and macrocephaly [RCV002248473]	pathogenic	14	21399706	21399706	Human	1	name
153346399	CV1691693	single nucleotide variant	NM_001170629.2(CHD8):c.2487-1G>C	Neurodevelopmental disorder [RCV002273176]	likely pathogenic	14	21408556	21408556	Human	1	name
153346485	CV1691763	single nucleotide variant	NM_001170629.2(CHD8):c.3308-2A>G	Intellectual developmental disorder with autism and macrocephaly [RCV002273246]	pathogenic	14	21403665	21403665	Human	1	name
155734635	CV1799025	single nucleotide variant	NM_001170629.2(CHD8):c.4921+4C>T	Inborn genetic diseases [RCV002340723]\|not provided [RCV005058393]	uncertain significance	14	21399598	21399598	Human	1	name
155743516	CV1806821	single nucleotide variant	NM_001170629.2(CHD8):c.5600-4G>A	Inborn genetic diseases [RCV002344902]	uncertain significance	14	21394199	21394199	Human	1	name
155672340	CV1853950	single nucleotide variant	NM_001170629.2(CHD8):c.2730+1G>C	Inborn genetic diseases [RCV002437479]	likely pathogenic	14	21408311	21408311	Human	1	name
155798091	CV1859582	single nucleotide variant	NM_001170629.2(CHD8):c.2025-1G>C	Intellectual developmental disorder with autism and macrocephaly [RCV002465375]	pathogenic	14	21414419	21414419	Human	1	name
156295267	CV1894162	single nucleotide variant	NM_001170629.2(CHD8):c.5051+9T>G	not provided [RCV003087666]	likely benign	14	21397814	21397814	Human		name
10051182	CV193025	single nucleotide variant	NM_001170629.2(CHD8):c.4921+5G>A	Inborn genetic diseases [RCV002345602]\|Intellectual developmental disorder with autism and macrocephaly [RCV001330442]\|not provided [RCV000176538]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	21399597	21399597	Human	2	name
10048385	CV193174	single nucleotide variant	NM_001170629.2(CHD8):c.5127+1G>A	not provided [RCV000176725]	likely pathogenic	14	21395816	21395816	Human		name
156443905	CV1941182	single nucleotide variant	NM_001170629.2(CHD8):c.7183-6T>C	not provided [RCV003114817]	likely benign	14	21386182	21386182	Human		name
156439208	CV1944074	single nucleotide variant	NM_001170629.2(CHD8):c.4571-9C>G	not provided [RCV003109165]	likely benign	14	21400316	21400316	Human		name
156335454	CV1954405	single nucleotide variant	NM_001170629.2(CHD8):c.4921+5G>T	not provided [RCV002580225]	uncertain significance	14	21399597	21399597	Human		name
156228061	CV1958964	single nucleotide variant	NM_001170629.2(CHD8):c.6771+8C>T	not provided [RCV002596702]	likely benign	14	21392499	21392499	Human		name
156409866	CV1961989	single nucleotide variant	NM_001170629.2(CHD8):c.4174-9T>C	not provided [RCV002586963]	likely benign	14	21401080	21401080	Human		name
156363473	CV2003378	single nucleotide variant	NM_001170629.2(CHD8):c.1899+8G>A	not provided [RCV002676400]	likely benign	14	21415717	21415717	Human		name
156394440	CV2015698	single nucleotide variant	NM_001170629.2(CHD8):c.4371-5T>C	not provided [RCV002725393]	likely benign	14	21400617	21400617	Human		name
156195356	CV2083085	single nucleotide variant	NM_001170629.2(CHD8):c.6468+4A>G	not provided [RCV002852274]	uncertain significance	14	21393102	21393102	Human		name
156391189	CV2118676	single nucleotide variant	NM_001170629.2(CHD8):c.2024+4C>T	not provided [RCV002943924]	uncertain significance	14	21414934	21414934	Human		name
156126562	CV2144926	single nucleotide variant	NM_001170629.2(CHD8):c.3307+6G>A	not provided [RCV003003192]	uncertain significance	14	21405203	21405203	Human		name
156229446	CV2156597	single nucleotide variant	NM_001170629.2(CHD8):c.4818-1G>C	not provided [RCV003025587]	pathogenic	14	21399706	21399706	Human		name
156168085	CV2184849	single nucleotide variant	NM_001170629.2(CHD8):c.6469-4T>G	not provided [RCV003057134]	likely benign	14	21392813	21392813	Human		name
156329669	CV2216471	single nucleotide variant	NM_001170629.2(CHD8):c.5390+5A>G	Inborn genetic diseases [RCV002717839]	uncertain significance	14	21394907	21394907	Human	1	name
401798673	CV2739431	single nucleotide variant	NM_001170629.2(CHD8):c.3518+5G>A	not provided [RCV003319079]	uncertain significance	14	21403448	21403448	Human		name
401924278	CV2795119	single nucleotide variant	NM_001170629.2(CHD8):c.7182+1G>A	Intellectual developmental disorder with autism and macrocephaly [RCV003388893]	uncertain significance	14	21390946	21390946	Human	1	name
405212862	CV2878757	single nucleotide variant	NM_001170629.2(CHD8):c.1717-9G>C	not provided [RCV003552819]	likely benign	14	21415916	21415916	Human		name
402504505	CV2880101	single nucleotide variant	NM_001170629.2(CHD8):c.2486+1G>T	not provided [RCV003546234]	likely pathogenic	14	21408703	21408703	Human		name
405124919	CV2889471	single nucleotide variant	NM_001170629.2(CHD8):c.2487-6C>A	not provided [RCV003559390]	uncertain significance	14	21408561	21408561	Human		name
405232392	CV2896404	single nucleotide variant	NM_001170629.2(CHD8):c.1717-8C>G	not provided [RCV003555730]	likely benign	14	21415915	21415915	Human		name
405110048	CV2898892	single nucleotide variant	NM_001170629.2(CHD8):c.1899+2T>G	not provided [RCV003557747]	likely pathogenic	14	21415723	21415723	Human		name
405184552	CV2920463	single nucleotide variant	NM_001170629.2(CHD8):c.2227-1G>C	not provided [RCV003564329]	likely pathogenic	14	21409989	21409989	Human		name
405065557	CV2927519	single nucleotide variant	NM_001170629.2(CHD8):c.5599+2T>G	not provided [RCV003580790]	likely pathogenic	14	21394275	21394275	Human		name
405177452	CV2952090	single nucleotide variant	NM_001170629.2(CHD8):c.4728-5T>C	not provided [RCV003675957]	likely benign	14	21400075	21400075	Human		name
405139786	CV3029640	single nucleotide variant	NM_001170629.2(CHD8):c.1900-8T>C	not provided [RCV003702349]	likely benign	14	21415650	21415650	Human		name
405030239	CV3129962	single nucleotide variant	NM_001170629.2(CHD8):c.1215+4A>G	not provided [RCV003830561]	uncertain significance	14	21428960	21428960	Human		name
405058371	CV3134866	single nucleotide variant	NM_001170629.2(CHD8):c.4818-9T>C	not provided [RCV003832538]	likely benign	14	21399714	21399714	Human		name
405160404	CV3152986	single nucleotide variant	NM_001170629.2(CHD8):c.6319+4A>G	not provided [RCV003840721]	uncertain significance	14	21393472	21393472	Human		name
405240400	CV3166063	single nucleotide variant	NM_001170629.2(CHD8):c.6320-4C>A	not provided [RCV003867075]	likely benign	14	21393258	21393258	Human		name
405274752	CV3209583	single nucleotide variant	NM_001170629.2(CHD8):c.2142+6T>G	CHD8-related disorder [RCV004552807]	likely benign	14	21414295	21414295	Human		name , trait , alternate_id
405283514	CV3218591	single nucleotide variant	NM_001170629.2(CHD8):c.4727+6C>G	CHD8-related disorder [RCV004554360]	likely benign	14	21400145	21400145	Human		name , trait , alternate_id
408389228	CV3522971	single nucleotide variant	NM_001170629.2(CHD8):c.1900-6C>T	not provided [RCV004769352]	uncertain significance	14	21415648	21415648	Human		name
597657371	CV3656410	single nucleotide variant	NM_001170629.2(CHD8):c.2907+1G>A	Inborn genetic diseases [RCV004976701]	likely pathogenic	14	21406855	21406855	Human	1	name
597714939	CV3733150	duplication	NM_001170629.2(CHD8):c.7182+1dup	Intellectual developmental disorder with autism and macrocephaly [RCV005052339]	uncertain significance	14	21390945	21390946	Human	1	name
597850839	CV3737277	single nucleotide variant	NM_001170629.2(CHD8):c.7183-4C>T	not provided [RCV005066243]	likely benign	14	21386180	21386180	Human		name
12849044	CV374099	single nucleotide variant	NM_001170629.2(CHD8):c.2487-2A>G	not provided [RCV000423157]	pathogenic	14	21408557	21408557	Human		name
597876703	CV3747894	single nucleotide variant	NM_001170629.2(CHD8):c.1216-6C>T	not provided [RCV005069386]	likely benign	14	21428260	21428260	Human		name
597845522	CV3761578	duplication	NM_001170629.2(CHD8):c.3051+8dup	not provided [RCV005087178]	likely benign	14	21405712	21405713	Human		name
597906808	CV3773099	single nucleotide variant	NM_001170629.2(CHD8):c.2025-6C>G	not provided [RCV005113163]	uncertain significance	14	21414424	21414424	Human		name
597840455	CV3825322	single nucleotide variant	NM_001170629.2(CHD8):c.1716+5A>G	not provided [RCV005172005]	uncertain significance	14	21426123	21426123	Human		name
597956868	CV3838330	single nucleotide variant	NM_001170629.2(CHD8):c.7183-7C>T	not provided [RCV005191705]	likely benign	14	21386183	21386183	Human		name
597926782	CV3840678	single nucleotide variant	NM_001170629.2(CHD8):c.1717-6C>A	not provided [RCV005185149]	likely benign	14	21415913	21415913	Human		name
597965647	CV3848387	single nucleotide variant	NM_001170629.2(CHD8):c.2025-6C>T	not provided [RCV005194267]	likely benign	14	21414424	21414424	Human		name
597926596	CV3855388	single nucleotide variant	NM_001170629.2(CHD8):c.2486+6G>C	not provided [RCV005205987]	uncertain significance	14	21408698	21408698	Human		name
597923254	CV3862951	single nucleotide variant	NM_001170629.2(CHD8):c.1717-6C>G	not provided [RCV005205439]	likely benign	14	21415913	21415913	Human		name
598222879	CV3892243	single nucleotide variant	NM_001170629.2(CHD8):c.5183-4A>G	Intellectual developmental disorder with autism and macrocephaly [RCV005253582]	uncertain significance	14	21395123	21395123	Human	1	name
616933318	CV4011414	single nucleotide variant	NM_001170629.2(CHD8):c.1968+1G>A	Intellectual developmental disorder with autism and macrocephaly [RCV005407495]	pathogenic	14	21415573	21415573	Human	1	name
617151157	CV4017773	single nucleotide variant	NM_001170629.2(CHD8):c.5051+5G>A	Intellectual developmental disorder with autism and macrocephaly [RCV005417558]	uncertain significance	14	21397818	21397818	Human	1	name
13509735	CV482047	single nucleotide variant	NM_001170629.2(CHD8):c.1899+5G>A	Intellectual developmental disorder with autism and macrocephaly [RCV002289847]\|not provided [RCV000578717]	uncertain significance	14	21415720	21415720	Human	1	name
8570551	CV48227	single nucleotide variant	NM_001170629.2(CHD8):c.3519-2A>G	Autism spectrum disorder [RCV001291274]\|Intellectual developmental disorder with autism and macrocephaly [RCV000032828]\|not provided [RCV001555708]	pathogenic\|likely pathogenic\|risk factor	14	21403214	21403214	Human	3	name
13519199	CV486103	single nucleotide variant	NM_001170629.2(CHD8):c.2364+2T>C	not provided [RCV000585465]	pathogenic\|uncertain significance	14	21409849	21409849	Human		name
13520450	CV495568	single nucleotide variant	NM_001170629.2(CHD8):c.4817+2T>A	not provided [RCV000598645]	likely pathogenic	14	21399979	21399979	Human		name
13532084	CV512077	single nucleotide variant	NM_001170629.2(CHD8):c.3882+1G>A	Inborn genetic diseases [RCV000623897]\|Intellectual developmental disorder with autism and macrocephaly [RCV002483750]	pathogenic\|likely pathogenic	14	21402335	21402335	Human	2	name
13837657	CV588947	single nucleotide variant	NM_001170629.2(CHD8):c.1717-4A>G	Inborn genetic diseases [RCV002397515]\|not provided [RCV000919356]\|not specified [RCV000734141]	benign\|likely benign	14	21415911	21415911	Human	1	name
15141067	CV760103	single nucleotide variant	NM_001170629.2(CHD8):c.6772-4C>G	not provided [RCV000921781]	likely benign	14	21391950	21391950	Human		name
15193790	CV760106	single nucleotide variant	NM_001170629.2(CHD8):c.4921+7A>G	not provided [RCV000910939]	benign\|likely benign	14	21399595	21399595	Human		name
25327661	CV816021	deletion	NM_001170629.2(CHD8):c.4727+1del	Intellectual developmental disorder with autism and macrocephaly [RCV001027707]	likely pathogenic	14	21400150	21400150	Human	1	name
40887680	CV973913	single nucleotide variant	NM_001170629.2(CHD8):c.3308-1G>A	Inborn genetic diseases [RCV001267281]	likely pathogenic	14	21403664	21403664	Human	1	name
40890058	CV975384	single nucleotide variant	NM_001170629.2(CHD8):c.2486+1G>A	not provided [RCV001268640]	likely pathogenic	14	21408703	21408703	Human		name
150334408	CV1172567	single nucleotide variant	NM_001170629.2(CHD8):c.3715-15T>G	not provided [RCV001540031]	benign	14	21402518	21402518	Human		name
150333452	CV1172568	single nucleotide variant	NM_001170629.2(CHD8):c.1717-29A>C	not provided [RCV001539502]	likely benign	14	21415936	21415936	Human		name
150411841	CV1177756	single nucleotide variant	NM_001170629.2(CHD8):c.3519-48C>T	not provided [RCV001547317]	likely benign	14	21403260	21403260	Human		name
150407264	CV1177757	single nucleotide variant	NM_001170629.2(CHD8):c.3518+75A>C	not provided [RCV001545538]	likely benign	14	21403378	21403378	Human		name
150421723	CV1181148	single nucleotide variant	NM_001170629.2(CHD8):c.2025-72C>G	not provided [RCV001552145]	likely benign	14	21414490	21414490	Human		name
150424548	CV1184862	single nucleotide variant	NM_001170629.2(CHD8):c.5391-22T>C	not provided [RCV001556812]	likely benign	14	21394507	21394507	Human		name
150425586	CV1184867	deletion	NM_001170629.2(CHD8):c.2487-19del	not provided [RCV001558200]	likely benign	14	21408574	21408574	Human		name
150426552	CV1188104	single nucleotide variant	NM_001170629.2(CHD8):c.5391-41G>T	not provided [RCV001559721]	likely benign	14	21394526	21394526	Human		name
150414154	CV1191561	single nucleotide variant	NM_001170629.2(CHD8):c.2487-15A>G	not provided [RCV001567422]	benign\|likely benign	14	21408570	21408570	Human		name
150404913	CV1194806	single nucleotide variant	NM_001170629.2(CHD8):c.4371-27A>T	not provided [RCV001571391]	likely benign	14	21400639	21400639	Human		name
150405238	CV1194807	single nucleotide variant	NM_001170629.2(CHD8):c.2907+58G>A	not provided [RCV001571538]	likely benign	14	21406798	21406798	Human		name
150418218	CV1194808	single nucleotide variant	NM_001170629.2(CHD8):c.2907+46G>A	not provided [RCV001569114]	likely benign	14	21406810	21406810	Human		name
150417578	CV1194809	single nucleotide variant	NM_001170629.2(CHD8):c.1968+26A>T	not provided [RCV001568827]	likely benign	14	21415548	21415548	Human		name
150413793	CV1198520	single nucleotide variant	NM_001170629.2(CHD8):c.7183-64G>A	not provided [RCV001574732]	likely benign	14	21386240	21386240	Human		name
150418376	CV1198522	single nucleotide variant	NM_001170629.2(CHD8):c.1601+29C>T	not provided [RCV001576715]	benign\|likely benign	14	21427840	21427840	Human		name
150449075	CV1202394	single nucleotide variant	NM_001170629.2(CHD8):c.2730+54C>T	not provided [RCV001584991]	likely benign	14	21408258	21408258	Human		name
150451642	CV1205420	single nucleotide variant	NM_001170629.2(CHD8):c.3307+86T>C	not provided [RCV001585320]	benign\|likely benign	14	21405123	21405123	Human		name
150487789	CV1208158	single nucleotide variant	NM_001170629.2(CHD8):c.1602-54A>G	not provided [RCV001592018]	likely benign	14	21426296	21426296	Human		name
150481528	CV1209808	single nucleotide variant	NM_001170629.2(CHD8):c.844-160A>T	not provided [RCV001590505]	likely benign	14	21429495	21429495	Human		name
150512052	CV1212904	single nucleotide variant	NM_001170629.2(CHD8):c.844-148G>T	not provided [RCV001598136]	benign	14	21429483	21429483	Human		name
150463575	CV1214805	duplication	NM_001170629.2(CHD8):c.2487-28dup	not provided [RCV001613800]	benign	14	21408573	21408574	Human		name
150447249	CV1216088	single nucleotide variant	NM_001170629.2(CHD8):c.4818-63T>A	not provided [RCV001611386]	benign	14	21399768	21399768	Human		name
150473994	CV1217725	single nucleotide variant	NM_001170629.2(CHD8):c.844-122G>A	not provided [RCV001615736]	benign	14	21429457	21429457	Human		name
150476655	CV1218510	single nucleotide variant	NM_001170629.2(CHD8):c.1216-21G>A	not provided [RCV001616137]	benign	14	21428275	21428275	Human		name
150481438	CV1222164	single nucleotide variant	NM_001170629.2(CHD8):c.1716+80C>T	not provided [RCV001616962]	benign	14	21426048	21426048	Human		name
150505444	CV1222891	single nucleotide variant	NM_001170629.2(CHD8):c.4063-36A>G	not provided [RCV001621826]	benign	14	21401549	21401549	Human		name
150506584	CV1226382	single nucleotide variant	NM_001170629.2(CHD8):c.2025-72C>A	not provided [RCV001635750]	benign	14	21414490	21414490	Human		name
150516713	CV1227203	single nucleotide variant	NM_001170629.2(CHD8):c.3051+24A>C	not provided [RCV001639301]	benign	14	21405697	21405697	Human		name
150511805	CV1228350	single nucleotide variant	NM_001170629.2(CHD8):c.2487-37C>T	not provided [RCV001637482]	benign	14	21408592	21408592	Human		name
150513622	CV1229076	single nucleotide variant	NM_001170629.2(CHD8):c.2907+45C>T	not provided [RCV001637918]	benign	14	21406811	21406811	Human		name
150444448	CV1233018	single nucleotide variant	NM_001170629.2(CHD8):c.4728-19C>T	not provided [RCV001645691]	benign	14	21400089	21400089	Human		name
150440272	CV1233362	single nucleotide variant	NM_001170629.2(CHD8):c.5052-73G>T	not provided [RCV001645050]	benign	14	21395965	21395965	Human		name
150459186	CV1236060	single nucleotide variant	NM_001170629.2(CHD8):c.5051+73A>G	not provided [RCV001649031]	benign	14	21397750	21397750	Human		name
150493724	CV1238726	single nucleotide variant	NM_001170629.2(CHD8):c.1716+36C>A	not provided [RCV001655270]	benign	14	21426092	21426092	Human		name
150434570	CV1243983	single nucleotide variant	NM_001170629.2(CHD8):c.4570+14C>T	not provided [RCV001665190]	likely benign	14	21400399	21400399	Human		name
150438000	CV1247112	single nucleotide variant	NM_001170629.2(CHD8):c.5128-34C>T	not provided [RCV001665881]	benign	14	21395386	21395386	Human		name
150469585	CV1247845	single nucleotide variant	NM_001170629.2(CHD8):c.5051+19T>A	not provided [RCV001670881]	benign	14	21397804	21397804	Human		name
150457038	CV1248733	single nucleotide variant	NM_001170629.2(CHD8):c.3715-85G>T	not provided [RCV001668909]	benign	14	21402588	21402588	Human		name
150488269	CV1251641	single nucleotide variant	NM_001170629.2(CHD8):c.4173+11T>C	not provided [RCV001674313]	benign	14	21401392	21401392	Human		name
150465325	CV1252863	deletion	NM_001170629.2(CHD8):c.7182+26del	not provided [RCV001670187]	benign	14	21390921	21390921	Human		name
150503030	CV1254681	duplication	NM_001170629.2(CHD8):c.2487-56dup	not provided [RCV001677383]	benign	14	21408603	21408604	Human		name
150493698	CV1257608	single nucleotide variant	NM_001170629.2(CHD8):c.2025-36A>G	not provided [RCV001675281]	benign	14	21414454	21414454	Human		name
150457765	CV1260186	single nucleotide variant	NM_001170629.2(CHD8):c.7065+86A>G	not provided [RCV001681666]	benign	14	21391377	21391377	Human		name
150447218	CV1261495	single nucleotide variant	NM_001170629.2(CHD8):c.2908-45C>G	not provided [RCV001680169]	benign	14	21405909	21405909	Human		name
150473732	CV1262951	single nucleotide variant	NM_001170629.2(CHD8):c.2908-71T>C	not provided [RCV001684767]	benign	14	21405935	21405935	Human		name
150494582	CV1267377	single nucleotide variant	NM_001170629.2(CHD8):c.2365-68A>T	not provided [RCV001688405]	benign	14	21408893	21408893	Human		name
150468378	CV1267927	single nucleotide variant	NM_001170629.2(CHD8):c.6468+54G>T	not provided [RCV001694790]	benign	14	21393052	21393052	Human		name
150463345	CV1273140	single nucleotide variant	NM_001170629.2(CHD8):c.4921+16T>A	not provided [RCV001693897]	benign	14	21399586	21399586	Human		name
150474460	CV1278867	single nucleotide variant	NM_001170629.2(CHD8):c.5391-40T>C	not provided [RCV001713699]	benign	14	21394525	21394525	Human		name
150489535	CV1279075	single nucleotide variant	NM_001170629.2(CHD8):c.2142+35C>T	not provided [RCV001716312]	benign	14	21414266	21414266	Human		name
150481583	CV1279786	single nucleotide variant	NM_001170629.2(CHD8):c.1601+74T>G	not provided [RCV001714873]	benign	14	21427795	21427795	Human		name
150482282	CV1279949	duplication	NM_001170629.2(CHD8):c.4063-43dup	not provided [RCV001714998]	benign	14	21401546	21401547	Human		name
150442106	CV1287670	single nucleotide variant	NM_001170629.2(CHD8):c.2907+12A>T	Intellectual developmental disorder with autism and macrocephaly [RCV002506748]\|not provided [RCV001725390]	benign\|likely benign	14	21406844	21406844	Human	1	name
152031844	CV1571965	single nucleotide variant	NM_001170629.2(CHD8):c.5052-14C>T	not provided [RCV002186783]	likely benign	14	21395906	21395906	Human		name
152092597	CV1593165	single nucleotide variant	NM_001170629.2(CHD8):c.1215+14A>C	not provided [RCV002094395]	likely benign	14	21428950	21428950	Human		name
152106320	CV1605133	single nucleotide variant	NM_001170629.2(CHD8):c.4817+14A>G	not provided [RCV002196197]	likely benign	14	21399967	21399967	Human		name
152146487	CV1606067	single nucleotide variant	NM_001170629.2(CHD8):c.4174-10C>G	not provided [RCV002178799]	likely benign	14	21401081	21401081	Human		name
152141475	CV1625870	single nucleotide variant	NM_001170629.2(CHD8):c.3519-12A>G	not provided [RCV002138233]	likely benign	14	21403224	21403224	Human		name
155942685	CV1910471	single nucleotide variant	NM_001170629.2(CHD8):c.1968+14A>T	not provided [RCV002615742]	likely benign	14	21415560	21415560	Human		name
10051398	CV193326	single nucleotide variant	NM_001170629.2(CHD8):c.5390+10A>T	not provided [RCV000176922]	conflicting interpretations of pathogenicity\|uncertain significance	14	21394902	21394902	Human		name
156440840	CV1940564	single nucleotide variant	NM_001170629.2(CHD8):c.4922-19A>G	not provided [RCV003110882]	benign	14	21397971	21397971	Human		name
156372664	CV1953362	single nucleotide variant	NM_001170629.2(CHD8):c.4370+12A>G	not provided [RCV002582551]	likely benign	14	21400863	21400863	Human		name
156408421	CV1957837	single nucleotide variant	NM_001170629.2(CHD8):c.2487-19T>C	not provided [RCV002586513]	likely benign	14	21408574	21408574	Human		name
156383571	CV1961048	single nucleotide variant	NM_001170629.2(CHD8):c.4371-18T>C	not provided [RCV002583336]	likely benign	14	21400630	21400630	Human		name
156406960	CV1963840	single nucleotide variant	NM_001170629.2(CHD8):c.5182+20A>G	not provided [RCV002586073]	likely benign	14	21395278	21395278	Human		name
156282102	CV1967991	single nucleotide variant	NM_001170629.2(CHD8):c.5391-16A>G	not provided [RCV002598430]	likely benign	14	21394501	21394501	Human		name
156176166	CV1968631	single nucleotide variant	NM_001170629.2(CHD8):c.2143-18G>A	not provided [RCV002594925]	likely benign	14	21413014	21413014	Human		name
156083542	CV1972329	single nucleotide variant	NM_001170629.2(CHD8):c.2025-11A>G	not provided [RCV002621621]	likely benign	14	21414429	21414429	Human		name
156239902	CV1973162	single nucleotide variant	NM_001170629.2(CHD8):c.7065+10A>G	not provided [RCV002597111]	likely benign	14	21391453	21391453	Human		name
156137535	CV1973449	single nucleotide variant	NM_001170629.2(CHD8):c.5051+15T>G	not provided [RCV002593715]	likely benign	14	21397808	21397808	Human		name
156419679	CV1974046	single nucleotide variant	NM_001170629.2(CHD8):c.4728-16C>T	not provided [RCV002612918]	likely benign	14	21400086	21400086	Human		name
156322842	CV1979000	single nucleotide variant	NM_001170629.2(CHD8):c.4818-18G>A	not provided [RCV002630463]	likely benign	14	21399723	21399723	Human		name
156400552	CV1981854	single nucleotide variant	NM_001170629.2(CHD8):c.4570+18A>T	not provided [RCV002605560]	likely benign	14	21400395	21400395	Human		name
156400685	CV1982281	single nucleotide variant	NM_001170629.2(CHD8):c.3051+18T>G	not provided [RCV002635939]	likely benign	14	21405703	21405703	Human		name
156339546	CV1984740	single nucleotide variant	NM_001170629.2(CHD8):c.1215+13C>A	not provided [RCV002631360]	likely benign	14	21428951	21428951	Human		name
156248818	CV1988351	single nucleotide variant	NM_001170629.2(CHD8):c.3883-13T>C	not provided [RCV002645827]	likely benign	14	21402149	21402149	Human		name
156390602	CV1990088	single nucleotide variant	NM_001170629.2(CHD8):c.4921+17A>G	not provided [RCV002604635]	likely benign	14	21399585	21399585	Human		name
156192347	CV1994700	single nucleotide variant	NM_001170629.2(CHD8):c.4370+20T>C	not provided [RCV002643352]	likely benign	14	21400855	21400855	Human		name
156101142	CV2001083	single nucleotide variant	NM_001170629.2(CHD8):c.3882+19T>C	not provided [RCV002639586]	likely benign	14	21402317	21402317	Human		name
156119400	CV2004073	single nucleotide variant	NM_001170629.2(CHD8):c.6319+16A>T	not provided [RCV002662795]	likely benign	14	21393460	21393460	Human		name
156079986	CV2011956	single nucleotide variant	NM_001170629.2(CHD8):c.2226+16A>G	not provided [RCV002705958]	benign	14	21412897	21412897	Human		name
156321279	CV2014515	single nucleotide variant	NM_001170629.2(CHD8):c.5127+15T>C	not provided [RCV002672209]	likely benign	14	21395802	21395802	Human		name
156178075	CV2020358	single nucleotide variant	NM_001170629.2(CHD8):c.2226+13G>A	not provided [RCV002710692]	likely benign	14	21412900	21412900	Human		name
156017269	CV2020362	single nucleotide variant	NM_001170629.2(CHD8):c.7183-10C>T	not provided [RCV002735205]	likely benign	14	21386186	21386186	Human		name
156232000	CV2024445	single nucleotide variant	NM_001170629.2(CHD8):c.4818-13C>T	not provided [RCV002745341]	likely benign	14	21399718	21399718	Human		name
156379227	CV2028995	single nucleotide variant	NM_001170629.2(CHD8):c.3519-14C>T	not provided [RCV002722180]	benign	14	21403226	21403226	Human		name
156233247	CV2048846	single nucleotide variant	NM_001170629.2(CHD8):c.6886-20G>A	not provided [RCV002791077]	likely benign	14	21391662	21391662	Human		name
156169964	CV2075492	single nucleotide variant	NM_001170629.2(CHD8):c.1900-11T>G	not provided [RCV002851499]	likely benign	14	21415653	21415653	Human		name
155949401	CV2158759	single nucleotide variant	NM_001170629.2(CHD8):c.4818-18G>T	not provided [RCV003014765]	likely benign	14	21399723	21399723	Human		name
156176801	CV2166402	single nucleotide variant	NM_001170629.2(CHD8):c.2730+19G>A	not provided [RCV003023699]	likely benign	14	21408293	21408293	Human		name
156222301	CV2168409	single nucleotide variant	NM_001170629.2(CHD8):c.5128-18G>A	not provided [RCV003042770]	likely benign	14	21395370	21395370	Human		name
156132777	CV2169263	deletion	NM_001170629.2(CHD8):c.6772-13del	not provided [RCV003022239]	likely benign	14	21391959	21391959	Human		name
156110723	CV2177342	single nucleotide variant	NM_001170629.2(CHD8):c.3308-14T>A	not provided [RCV003055080]	likely benign	14	21403677	21403677	Human		name
156435261	CV2403496	single nucleotide variant	NM_001170629.2(CHD8):c.2365-10T>G	Autism spectrum disorder [RCV003127432]	likely benign	14	21408835	21408835	Human	2	name
401738858	CV2738406	single nucleotide variant	NM_001170629.2(CHD8):c.5052-18G>A	not specified [RCV003317798]	uncertain significance	14	21395910	21395910	Human		name
401924704	CV2805082	duplication	NM_001170629.2(CHD8):c.1717-21dup	not specified [RCV003404901]	likely benign	14	21415927	21415928	Human		name
405210551	CV2867763	single nucleotide variant	NM_001170629.2(CHD8):c.5390+15G>T	not provided [RCV003552512]	likely benign	14	21394897	21394897	Human		name
405205924	CV2873802	single nucleotide variant	NM_001170629.2(CHD8):c.4817+10T>C	not provided [RCV003551938]	likely benign	14	21399971	21399971	Human		name
405214349	CV2925003	single nucleotide variant	NM_001170629.2(CHD8):c.2907+18T>C	not provided [RCV003567528]	likely benign	14	21406838	21406838	Human		name
405031267	CV2926116	single nucleotide variant	NM_001170629.2(CHD8):c.2227-11T>C	not provided [RCV003578292]	likely benign	14	21409999	21409999	Human		name
402482485	CV2940780	single nucleotide variant	NM_001170629.2(CHD8):c.1215+14A>G	not provided [RCV003659700]	likely benign	14	21428950	21428950	Human		name
405085266	CV2943102	single nucleotide variant	NM_001170629.2(CHD8):c.3715-14T>C	not provided [RCV003664906]	likely benign	14	21402517	21402517	Human		name
405137633	CV2963278	single nucleotide variant	NM_001170629.2(CHD8):c.1601+11C>T	not provided [RCV003668924]	likely benign	14	21427858	21427858	Human		name
405227718	CV2963578	single nucleotide variant	NM_001170629.2(CHD8):c.7066-15T>C	not provided [RCV003681672]	likely benign	14	21391078	21391078	Human		name
404981845	CV2986304	single nucleotide variant	NM_001170629.2(CHD8):c.2486+17G>T	not provided [RCV003691338]	likely benign	14	21408687	21408687	Human		name
402486854	CV2999112	single nucleotide variant	NM_001170629.2(CHD8):c.1215+10T>C	not provided [RCV003687144]	likely benign	14	21428954	21428954	Human		name
402478439	CV3032982	single nucleotide variant	NM_001170629.2(CHD8):c.6771+11C>T	not provided [RCV003712564]	likely benign	14	21392496	21392496	Human		name
405226606	CV3039432	single nucleotide variant	NM_001170629.2(CHD8):c.4371-14T>G	not provided [RCV003710813]	likely benign	14	21400626	21400626	Human		name
405242800	CV3043089	single nucleotide variant	NM_001170629.2(CHD8):c.1716+10T>C	not provided [RCV003719587]	likely benign	14	21426118	21426118	Human		name
405119510	CV3116160	single nucleotide variant	NM_001170629.2(CHD8):c.4370+15T>C	not provided [RCV003814650]	likely benign	14	21400860	21400860	Human		name
402523769	CV3123587	single nucleotide variant	NM_001170629.2(CHD8):c.3307+13T>C	not provided [RCV003825013]	likely benign	14	21405196	21405196	Human		name
405141439	CV3131244	duplication	NM_001170629.2(CHD8):c.2487-16dup	not provided [RCV003839284]	likely benign	14	21408570	21408571	Human		name
405118905	CV3134766	single nucleotide variant	NM_001170629.2(CHD8):c.1900-19A>G	not provided [RCV003837176]	likely benign	14	21415661	21415661	Human		name
405205205	CV3144205	single nucleotide variant	NM_001170629.2(CHD8):c.2025-19A>G	not provided [RCV003844995]	likely benign	14	21414437	21414437	Human		name
405209619	CV3145878	single nucleotide variant	NM_001170629.2(CHD8):c.4817+15T>C	not provided [RCV003845608]	likely benign	14	21399966	21399966	Human		name
405211121	CV3146300	single nucleotide variant	NM_001170629.2(CHD8):c.2365-15C>T	not provided [RCV003845831]	likely benign	14	21408840	21408840	Human		name
405180858	CV3147504	single nucleotide variant	NM_001170629.2(CHD8):c.1215+15T>C	not provided [RCV003842406]	likely benign	14	21428949	21428949	Human		name
405190832	CV3149690	single nucleotide variant	NM_001170629.2(CHD8):c.1216-14C>T	not provided [RCV003843416]	likely benign	14	21428268	21428268	Human		name
405169759	CV3151570	single nucleotide variant	NM_001170629.2(CHD8):c.4063-20C>G	not provided [RCV003857721]	likely benign	14	21401533	21401533	Human		name
405172989	CV3151844	single nucleotide variant	NM_001170629.2(CHD8):c.4571-12C>T	not provided [RCV003857995]	likely benign	14	21400319	21400319	Human		name
405222068	CV3158213	single nucleotide variant	NM_001170629.2(CHD8):c.6772-18G>C	not provided [RCV003863709]	likely benign	14	21391964	21391964	Human		name
405216885	CV3160825	single nucleotide variant	NM_001170629.2(CHD8):c.5183-16A>G	not provided [RCV003862887]	likely benign	14	21395135	21395135	Human		name
405254655	CV3175438	single nucleotide variant	NM_001170629.2(CHD8):c.7183-13T>G	not provided [RCV003871705]	likely benign	14	21386189	21386189	Human		name
597715796	CV3733216	single nucleotide variant	NM_001170629.2(CHD8):c.2227-11T>G	not provided [RCV005052405]	uncertain significance	14	21409999	21409999	Human		name
597850959	CV3737291	single nucleotide variant	NM_001170629.2(CHD8):c.4063-16A>G	not provided [RCV005066257]	likely benign	14	21401529	21401529	Human		name
597922392	CV3738499	single nucleotide variant	NM_001170629.2(CHD8):c.4174-18C>T	not provided [RCV005074906]	likely benign	14	21401089	21401089	Human		name
597847944	CV3746418	single nucleotide variant	NM_001170629.2(CHD8):c.2486+19C>T	not provided [RCV005060236]	likely benign	14	21408685	21408685	Human		name
597872694	CV3747205	single nucleotide variant	NM_001170629.2(CHD8):c.7182+11T>G	not provided [RCV005068889]	likely benign	14	21390936	21390936	Human		name
597855423	CV3747734	duplication	NM_001170629.2(CHD8):c.3519-18dup	not provided [RCV005066745]	benign	14	21403229	21403230	Human		name
597831991	CV3751233	single nucleotide variant	NM_001170629.2(CHD8):c.4062+13T>C	not provided [RCV005084779]	likely benign	14	21401944	21401944	Human		name
597951866	CV3756537	single nucleotide variant	NM_001170629.2(CHD8):c.4570+11A>G	not provided [RCV005079594]	likely benign	14	21400402	21400402	Human		name
597946341	CV3774854	single nucleotide variant	NM_001170629.2(CHD8):c.1899+19T>A	not provided [RCV005119951]	likely benign	14	21415706	21415706	Human		name
597942405	CV3779907	single nucleotide variant	NM_001170629.2(CHD8):c.2142+14G>A	not provided [RCV005118916]	likely benign	14	21414287	21414287	Human		name
597967061	CV3794402	duplication	NM_001170629.2(CHD8):c.1601+16dup	not provided [RCV005140578]	likely benign	14	21427852	21427853	Human		name
597961176	CV3794842	single nucleotide variant	NM_001170629.2(CHD8):c.4727+17C>T	not provided [RCV005138747]	likely benign	14	21400134	21400134	Human		name
597873203	CV3805450	single nucleotide variant	NM_001170629.2(CHD8):c.5182+11A>G	not provided [RCV005148728]	likely benign	14	21395287	21395287	Human		name
597934490	CV3810933	single nucleotide variant	NM_001170629.2(CHD8):c.3883-20C>T	not provided [RCV005157642]	likely benign	14	21402156	21402156	Human		name
597961084	CV3812040	single nucleotide variant	NM_001170629.2(CHD8):c.4818-17C>G	not provided [RCV005163693]	likely benign	14	21399722	21399722	Human		name
597942584	CV3815590	single nucleotide variant	NM_001170629.2(CHD8):c.4063-19T>C	not provided [RCV005159279]	likely benign	14	21401532	21401532	Human		name
597881840	CV3822952	single nucleotide variant	NM_001170629.2(CHD8):c.1716+18G>T	not provided [RCV005178278]	likely benign	14	21426110	21426110	Human		name
597974117	CV3831164	single nucleotide variant	NM_001170629.2(CHD8):c.7182+14C>G	not provided [RCV005168302]	likely benign	14	21390933	21390933	Human		name
597971974	CV3833274	single nucleotide variant	NM_001170629.2(CHD8):c.6320-20T>A	not provided [RCV005167171]	likely benign	14	21393274	21393274	Human		name
597930029	CV3837517	single nucleotide variant	NM_001170629.2(CHD8):c.2907+10A>C	not provided [RCV005185675]	likely benign	14	21406846	21406846	Human		name
597936306	CV3845416	single nucleotide variant	NM_001170629.2(CHD8):c.6319+10T>C	not provided [RCV005186729]	likely benign	14	21393466	21393466	Human		name
597959129	CV3848610	single nucleotide variant	NM_001170629.2(CHD8):c.1900-18C>T	not provided [RCV005192311]	likely benign	14	21415660	21415660	Human		name
597959188	CV3848627	single nucleotide variant	NM_001170629.2(CHD8):c.1601+14G>A	not provided [RCV005192328]	likely benign	14	21427855	21427855	Human		name
15162482	CV760294	single nucleotide variant	NM_001170629.2(CHD8):c.4571-10C>A	not provided [RCV000925899]	benign	14	21400317	21400317	Human		name
38598173	CV964680	single nucleotide variant	NM_001170629.2(CHD8):c.3052-11A>G	Intellectual developmental disorder with autism and macrocephaly [RCV001253452]	uncertain significance	14	21405475	21405475	Human	1	name
150338925	CV1167603	single nucleotide variant	NM_001170629.2(CHD8):c.3715-235C>A	not provided [RCV001533886]	likely benign	14	21402738	21402738	Human		name
150340160	CV1168300	single nucleotide variant	NM_001170629.2(CHD8):c.7182+162G>T	not provided [RCV001535056]	benign	14	21390785	21390785	Human		name
150410304	CV1177755	single nucleotide variant	NM_001170629.2(CHD8):c.4174-128A>G	not provided [RCV001546570]	likely benign	14	21401199	21401199	Human		name
150415830	CV1181147	single nucleotide variant	NM_001170629.2(CHD8):c.2907+265T>C	not provided [RCV001549315]	likely benign	14	21406591	21406591	Human		name
150425416	CV1184865	single nucleotide variant	NM_001170629.2(CHD8):c.2907+121G>T	not provided [RCV001557962]	likely benign	14	21406735	21406735	Human		name
150415682	CV1191562	single nucleotide variant	NM_001170629.2(CHD8):c.1968+249T>C	not provided [RCV001568095]	likely benign	14	21415325	21415325	Human		name
150418057	CV1194802	single nucleotide variant	NM_001170629.2(CHD8):c.6772-103T>G	not provided [RCV001569045]	likely benign	14	21392049	21392049	Human		name
150404829	CV1194804	single nucleotide variant	NM_001170629.2(CHD8):c.5052-259G>A	not provided [RCV001571354]	likely benign	14	21396151	21396151	Human		name
150441570	CV1204571	single nucleotide variant	NM_001170629.2(CHD8):c.-215-291T>C	not provided [RCV001583678]	likely benign	14	21432149	21432149	Human		name
150442400	CV1204701	deletion	NM_001170629.2(CHD8):c.1602-166del	not provided [RCV001583808]	likely benign	14	21426408	21426408	Human		name
150468341	CV1207402	single nucleotide variant	NM_001170629.2(CHD8):c.3308-163G>T	not provided [RCV001588091]	likely benign	14	21403826	21403826	Human		name
150487920	CV1208176	duplication	NM_001170629.2(CHD8):c.6468+132dup	not provided [RCV001592036]	likely benign	14	21392972	21392973	Human		name
150497006	CV1208683	single nucleotide variant	NM_001170629.2(CHD8):c.2364+130A>G	not provided [RCV001593899]	likely benign	14	21409721	21409721	Human		name
150481349	CV1209776	single nucleotide variant	NM_001170629.2(CHD8):c.7183-155T>A	not provided [RCV001590473]	likely benign	14	21386331	21386331	Human		name
150506515	CV1212226	single nucleotide variant	NM_001170629.2(CHD8):c.2730+106A>G	not provided [RCV001596057]	likely benign	14	21408206	21408206	Human		name
150508127	CV1213956	single nucleotide variant	NM_001170629.2(CHD8):c.3308-257C>T	not provided [RCV001596477]	likely benign	14	21403920	21403920	Human		name
150444993	CV1215418	single nucleotide variant	NM_001170629.2(CHD8):c.4817+111A>G	not provided [RCV001611011]	benign	14	21399870	21399870	Human		name
150434079	CV1217086	single nucleotide variant	NM_001170629.2(CHD8):c.2226+105G>A	not provided [RCV001608988]	benign	14	21412808	21412808	Human		name
150480686	CV1222018	single nucleotide variant	NM_001170629.2(CHD8):c.1602-151C>G	not provided [RCV001616815]	benign	14	21426393	21426393	Human		name
150504543	CV1223970	single nucleotide variant	NM_001170629.2(CHD8):c.2731-285G>A	not provided [RCV001621619]	benign	14	21407317	21407317	Human		name
150487626	CV1225940	single nucleotide variant	NM_001170629.2(CHD8):c.5128-205G>A	not provided [RCV001618101]	benign	14	21395557	21395557	Human		name
150433371	CV1230504	duplication	NM_001170629.2(CHD8):c.7182+163dup	not provided [RCV001643449]	benign	14	21390768	21390769	Human		name
150467176	CV1240534	single nucleotide variant	NM_001170629.2(CHD8):c.1968+253A>G	not provided [RCV001650295]	benign	14	21415321	21415321	Human		name
150508197	CV1244769	duplication	NM_001170629.2(CHD8):c.6468+117dup	not provided [RCV001659018]	benign	14	21392974	21392975	Human		name
150510192	CV1248556	single nucleotide variant	NM_001170629.2(CHD8):c.1601+243A>T	not provided [RCV001659626]	benign	14	21427626	21427626	Human		name
150453323	CV1260500	single nucleotide variant	NM_001170629.2(CHD8):c.6772-255C>T	not provided [RCV001680991]	benign	14	21392201	21392201	Human		name
150449942	CV1260890	single nucleotide variant	NM_001170629.2(CHD8):c.2731-296A>G	not provided [RCV001680559]	benign	14	21407328	21407328	Human		name
150446076	CV1261307	single nucleotide variant	NM_001170629.2(CHD8):c.2364+322A>G	not provided [RCV001679981]	benign	14	21409529	21409529	Human		name
150486805	CV1262634	single nucleotide variant	NM_001170629.2(CHD8):c.1602-125A>G	not provided [RCV001687031]	benign	14	21426367	21426367	Human		name
150441620	CV1265586	single nucleotide variant	NM_001170629.2(CHD8):c.2364+236C>T	not provided [RCV001679290]	benign	14	21409615	21409615	Human		name
150443746	CV1266436	single nucleotide variant	NM_001170629.2(CHD8):c.5391-116C>T	not provided [RCV001690872]	benign	14	21394601	21394601	Human		name
150491922	CV1267856	single nucleotide variant	NM_001170629.2(CHD8):c.2908-234A>G	not provided [RCV001687881]	benign	14	21406098	21406098	Human		name
150447962	CV1270389	single nucleotide variant	NM_001170629.2(CHD8):c.2730+327A>G	not provided [RCV001691526]	benign	14	21407985	21407985	Human		name
150453320	CV1276831	single nucleotide variant	NM_001170629.2(CHD8):c.3308-177A>C	not provided [RCV001708621]	benign	14	21403840	21403840	Human		name
150437273	CV1286519	single nucleotide variant	NM_001170629.2(CHD8):c.2227-182A>G	not provided [RCV001724598]	benign	14	21410170	21410170	Human		name
150478431	CV1257146	microsatellite	NM_001170629.2(CHD8):c.1968+32ATTT[7]	not provided [RCV001672376]	benign	14	21415507	21415514	Human		name
152142595	CV1538259	microsatellite	NM_001170629.2(CHD8):c.6469-21TTTC[2]	not provided [RCV002219571]	likely benign	14	21392819	21392822	Human		name
156086197	CV2289914	deletion	NM_001170629.2(CHD8):c.844-8_844-4del	Inborn genetic diseases [RCV002869552]	uncertain significance	14	21429339	21429343	Human	1	name
150435723	CV1221725	microsatellite	NM_001170629.2(CHD8):c.1968+32ATTT[10]	not provided [RCV001609414]	benign	14	21415506	21415507	Human		name
10047511	CV190352	single nucleotide variant	NM_001170629.2(CHD8):c.27C>T (p.Phe9=)	CHD8-related disorder [RCV004552950]\|Inborn genetic diseases [RCV002312702]\|not provided [RCV000870876]\|not specified [RCV000173233]	benign\|likely benign	14	21431617	21431617	Human	2	name , alternate_id
156096259	CV2152159	single nucleotide variant	NM_001170629.2(CHD8):c.3G>A (p.Met1Ile)	not provided [RCV003020877]	uncertain significance	14	21431641	21431641	Human		name
11560103	CV260051	deletion	NM_001170629.2(CHD8):c.4174-9_4174-1del	not provided [RCV000255702]	pathogenic	14	21401072	21401080	Human		name
13530839	CV512083	single nucleotide variant	NM_001170629.2(CHD8):c.7G>A (p.Asp3Asn)	Inborn genetic diseases [RCV000622822]	uncertain significance	14	21431637	21431637	Human	1	name
150545918	CV1297030	single nucleotide variant	NM_001170629.2(CHD8):c.21T>G (p.Asp7Glu)	Inborn genetic diseases [RCV002540338]\|not provided [RCV001763321]	uncertain significance	14	21431623	21431623	Human	1	name
151769829	CV1481696	single nucleotide variant	NM_001170629.2(CHD8):c.15C>G (p.Ile5Met)	not provided [RCV002008738]	uncertain significance	14	21431629	21431629	Human		name
155684802	CV1841276	single nucleotide variant	NM_001170629.2(CHD8):c.228A>G (p.Thr76=)	Inborn genetic diseases [RCV002457456]\|not provided [RCV003098775]	likely benign	14	21431416	21431416	Human	1	name
156280727	CV1922501	microsatellite	NM_001170629.2(CHD8):c.6468+7_6468+10del	not provided [RCV002628421]	likely benign	14	21393096	21393099	Human		name
156285665	CV2061763	single nucleotide variant	NM_001170629.2(CHD8):c.177G>T (p.Gly59=)	not provided [RCV002832997]	likely benign	14	21431467	21431467	Human		name
156299717	CV2169967	single nucleotide variant	NM_001170629.2(CHD8):c.159T>C (p.Gly53=)	not provided [RCV003045492]	likely benign	14	21431485	21431485	Human		name
405210376	CV3062331	deletion	NM_001170629.2(CHD8):c.3518+7_3518+11del	not provided [RCV003731918]	likely benign	14	21403442	21403446	Human		name
408376013	CV3505471	deletion	NM_001170629.2(CHD8):c.38del (p.Asn13fs)	CHD8-related disorder [RCV004726502]	uncertain significance	14	21431606	21431606	Human		name , trait , alternate_id
597969501	CV3821534	single nucleotide variant	NM_001170629.2(CHD8):c.174G>A (p.Val58=)	not provided [RCV005166176]	benign	14	21431470	21431470	Human		name
8635151	CV90373	single nucleotide variant	NM_020920.3(CHD8):c.3156C>T (p.Asp1052=)	Malignant melanoma [RCV000070471]	not provided	14	21402026	21402026	Human		name
150414552	CV1177758	duplication	NM_001170629.2(CHD8):c.2487-28_2487-27dup	not provided [RCV001548183]	benign\|likely benign	14	21408573	21408574	Human		name
150417594	CV1181149	single nucleotide variant	NM_001170629.2(CHD8):c.489G>A (p.Lys163=)	not provided [RCV001550200]	likely benign	14	21431155	21431155	Human		name
150407673	CV1191560	deletion	NM_001170629.2(CHD8):c.3518+27_3518+37del	not provided [RCV001565085]	likely benign	14	21403416	21403426	Human		name
150418986	CV1194810	single nucleotide variant	NM_001170629.2(CHD8):c.363A>G (p.Gln121=)	not provided [RCV001569475]	likely benign	14	21431281	21431281	Human		name
150419525	CV1198521	deletion	NM_001170629.2(CHD8):c.4371-51_4371-50del	not provided [RCV001577217]	likely benign	14	21400662	21400663	Human		name
150481511	CV1209805	deletion	NM_001170629.2(CHD8):c.5391-33_5391-31del	not provided [RCV001590502]	likely benign	14	21394516	21394518	Human		name
150555804	CV1305286	single nucleotide variant	NM_001170629.2(CHD8):c.31G>A (p.Asp11Asn)	not provided [RCV001773219]	uncertain significance	14	21431613	21431613	Human		name
151661360	CV1329883	single nucleotide variant	NM_001170629.2(CHD8):c.639A>C (p.Pro213=)	Intellectual developmental disorder with autism and macrocephaly [RCV001823083]	uncertain significance	14	21431005	21431005	Human	1	name
152169213	CV1661150	single nucleotide variant	NM_001170629.2(CHD8):c.669G>C (p.Val223=)	not provided [RCV002142716]	likely benign	14	21430975	21430975	Human		name
155702096	CV1785327	single nucleotide variant	NM_001170629.2(CHD8):c.321A>G (p.Gln107=)	Inborn genetic diseases [RCV002445465]\|not provided [RCV003099306]	likely benign	14	21431323	21431323	Human	1	name
155961067	CV1884782	single nucleotide variant	NM_001170629.2(CHD8):c.339G>A (p.Ser113=)	not provided [RCV003074687]	likely benign	14	21431305	21431305	Human		name
10049393	CV190351	single nucleotide variant	NM_001170629.2(CHD8):c.456A>G (p.Pro152=)	Inborn genetic diseases [RCV002316986]\|not provided [RCV000173232]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	21431188	21431188	Human	1	name
156408338	CV1911569	single nucleotide variant	NM_001170629.2(CHD8):c.306G>A (p.Gln102=)	not provided [RCV002607198]	likely benign	14	21431338	21431338	Human		name
156376592	CV1917709	single nucleotide variant	NM_001170629.2(CHD8):c.576A>G (p.Ala192=)	not provided [RCV002603633]	likely benign	14	21431068	21431068	Human		name
156444707	CV1948492	single nucleotide variant	NM_001170629.2(CHD8):c.717C>T (p.Val239=)	not provided [RCV003115633]	likely benign	14	21430927	21430927	Human		name
156101870	CV1991958	single nucleotide variant	NM_001170629.2(CHD8):c.435C>T (p.Ser145=)	not provided [RCV002622246]	likely benign	14	21431209	21431209	Human		name
155914376	CV2091620	single nucleotide variant	NM_001170629.2(CHD8):c.85A>G (p.Thr29Ala)	not provided [RCV002902987]	likely benign	14	21431559	21431559	Human		name
155908208	CV2302378	single nucleotide variant	NM_001170629.2(CHD8):c.70A>G (p.Ser24Gly)	Inborn genetic diseases [RCV002902142]	uncertain significance	14	21431574	21431574	Human	1	name
11639227	CV269144	single nucleotide variant	NM_001170629.2(CHD8):c.621C>T (p.Thr207=)	Inborn genetic diseases [RCV002365316]\|not provided [RCV000317220]	likely benign\|uncertain significance	14	21431023	21431023	Human	1	name
401860113	CV2794468	single nucleotide variant	NM_001170629.2(CHD8):c.846T>C (p.Gly282=)	not provided [RCV003387636]	conflicting interpretations of pathogenicity\|uncertain significance	14	21429333	21429333	Human		name
401919242	CV2794812	single nucleotide variant	NM_001170629.2(CHD8):c.28G>A (p.Asp10Asn)	not provided [RCV003720880]\|not specified [RCV003388487]	uncertain significance	14	21431616	21431616	Human		name
402480475	CV2910950	single nucleotide variant	NM_001170629.2(CHD8):c.384C>A (p.Ile128=)	not provided [RCV003572023]	likely benign	14	21431260	21431260	Human		name
402502001	CV2932437	single nucleotide variant	NM_001170629.2(CHD8):c.672G>A (p.Leu224=)	not provided [RCV003574091]	likely benign	14	21430972	21430972	Human		name
405137214	CV2954395	single nucleotide variant	NM_001170629.2(CHD8):c.336A>G (p.Thr112=)	not provided [RCV003672917]	likely benign	14	21431308	21431308	Human		name
405176033	CV3119270	single nucleotide variant	NM_001170629.2(CHD8):c.498A>G (p.Pro166=)	not provided [RCV003819555]	likely benign	14	21431146	21431146	Human		name
405138433	CV3125458	single nucleotide variant	NM_001170629.2(CHD8):c.648C>T (p.Ser216=)	not provided [RCV003816565]	likely benign	14	21430996	21430996	Human		name
404988058	CV3135499	single nucleotide variant	NM_001170629.2(CHD8):c.303C>T (p.Ser101=)	not provided [RCV003826794]	likely benign	14	21431341	21431341	Human		name
405233111	CV3145002	single nucleotide variant	NM_001170629.2(CHD8):c.726C>T (p.Ser242=)	not provided [RCV003853259]	likely benign	14	21430918	21430918	Human		name
405855006	CV3395536	single nucleotide variant	NM_001170629.2(CHD8):c.68A>C (p.Asp23Ala)	Intellectual developmental disorder with autism and macrocephaly [RCV004555784]	uncertain significance	14	21431576	21431576	Human	1	name
408385038	CV3526003	single nucleotide variant	NM_001170629.2(CHD8):c.28G>C (p.Asp10His)	not specified [RCV004766914]	uncertain significance	14	21431616	21431616	Human		name
596927451	CV3541089	deletion	NM_001170629.2(CHD8):c.158del (p.Gly53fs)	Intellectual developmental disorder with autism and macrocephaly [RCV004796959]	likely pathogenic	14	21431486	21431486	Human	1	name
597831799	CV3743759	microsatellite	NM_001170629.2(CHD8):c.4570+19_4570+23del	not provided [RCV005062576]	likely benign	14	21400390	21400394	Human		name
597854803	CV3747655	microsatellite	NM_001170629.2(CHD8):c.4173+12_4173+14del	not provided [RCV005066666]	likely benign	14	21401389	21401391	Human		name
597848984	CV3762283	single nucleotide variant	NM_001170629.2(CHD8):c.789G>A (p.Gly263=)	not specified [RCV005087703]	likely benign	14	21430855	21430855	Human		name
597883252	CV3799392	single nucleotide variant	NM_001170629.2(CHD8):c.687T>G (p.Pro229=)	not provided [RCV005150059]	likely benign	14	21430957	21430957	Human		name
597870601	CV3799833	single nucleotide variant	NM_001170629.2(CHD8):c.783C>T (p.Asn261=)	not provided [RCV005148247]	likely benign	14	21430861	21430861	Human		name
597896901	CV3806741	deletion	NM_001170629.2(CHD8):c.1899+17_1899+18del	not provided [RCV005152128]	likely benign	14	21415707	21415708	Human		name
597938033	CV3807971	single nucleotide variant	NM_001170629.2(CHD8):c.801C>A (p.Pro267=)	not provided [RCV005158350]	likely benign	14	21430843	21430843	Human		name
597958139	CV3814551	single nucleotide variant	NM_001170629.2(CHD8):c.765T>G (p.Gly255=)	not provided [RCV005162882]	likely benign	14	21430879	21430879	Human		name
597881848	CV3822953	single nucleotide variant	NM_001170629.2(CHD8):c.666A>C (p.Thr222=)	not provided [RCV005178279]	likely benign	14	21430978	21430978	Human		name
597888201	CV3839194	single nucleotide variant	NM_001170629.2(CHD8):c.98T>C (p.Ile33Thr)	not provided [RCV005179280]	likely benign	14	21431546	21431546	Human		name
597911745	CV3850521	single nucleotide variant	NM_001170629.2(CHD8):c.573G>A (p.Val191=)	not provided [RCV005203670]	likely benign	14	21431071	21431071	Human		name
597936504	CV3852205	single nucleotide variant	NM_001170629.2(CHD8):c.358T>C (p.Leu120=)	not provided [RCV005186802]	likely benign	14	21431286	21431286	Human		name
597887787	CV3859384	single nucleotide variant	NM_001170629.2(CHD8):c.420C>T (p.Ala140=)	not provided [RCV005200040]	likely benign	14	21431224	21431224	Human		name
597865544	CV3861233	single nucleotide variant	NM_001170629.2(CHD8):c.951G>A (p.Gln317=)	not provided [RCV005196581]	likely benign	14	21429228	21429228	Human		name
13830297	CV579957	single nucleotide variant	NM_001170629.2(CHD8):c.28G>T (p.Asp10Tyr)	Inborn genetic diseases [RCV002317409]	uncertain significance	14	21431616	21431616	Human	1	name
15175977	CV739164	single nucleotide variant	NM_001170629.2(CHD8):c.315A>G (p.Pro105=)	not provided [RCV000906333]	likely benign	14	21431329	21431329	Human		name
15200243	CV753974	single nucleotide variant	NM_001170629.2(CHD8):c.393A>G (p.Gln131=)	not provided [RCV000912789]	likely benign	14	21431251	21431251	Human		name
28885782	CV860090	single nucleotide variant	NM_001170629.2(CHD8):c.852G>A (p.Ser284=)	CHD8-related disorder [RCV004738160]\|not provided [RCV001091755]	benign\|likely benign	14	21429327	21429327	Human	1	name , alternate_id
150421263	CV1181150	single nucleotide variant	NM_001170629.2(CHD8):c.256G>A (p.Ala86Thr)	not provided [RCV001551933]	uncertain significance	14	21431388	21431388	Human		name
150424106	CV1184866	single nucleotide variant	NM_001170629.2(CHD8):c.2655C>T (p.Asn885=)	not provided [RCV001556218]	likely benign	14	21408387	21408387	Human		name
150406912	CV1191563	single nucleotide variant	NM_001170629.2(CHD8):c.1080G>A (p.Ser360=)	not provided [RCV001564837]	likely benign	14	21429099	21429099	Human		name
150431820	CV1236545	single nucleotide variant	NM_001170629.2(CHD8):c.1809T>C (p.Asp603=)	not provided [RCV001641949]	benign	14	21415815	21415815	Human		name
151234420	CV1320266	single nucleotide variant	NM_001170629.2(CHD8):c.2823A>G (p.Glu941=)	not provided [RCV001799889]	likely benign	14	21406940	21406940	Human		name
152081475	CV1607800	single nucleotide variant	NM_001170629.2(CHD8):c.1842C>G (p.Leu614=)	not provided [RCV002193075]	likely benign	14	21415782	21415782	Human		name
152980119	CV1675858	single nucleotide variant	NM_001170629.2(CHD8):c.289A>T (p.Thr97Ser)	not provided [RCV002244449]	uncertain significance	14	21431355	21431355	Human		name
155695366	CV1772007	single nucleotide variant	NM_001170629.2(CHD8):c.175G>T (p.Gly59Trp)	not provided [RCV002299575]	uncertain significance	14	21431469	21431469	Human		name
155716339	CV1780479	single nucleotide variant	NM_001170629.2(CHD8):c.202C>T (p.Pro68Ser)	not provided [RCV002306084]	uncertain significance	14	21431442	21431442	Human		name
155674925	CV1810216	single nucleotide variant	NM_001170629.2(CHD8):c.1203A>G (p.Val401=)	Inborn genetic diseases [RCV002351717]\|not provided [RCV003096776]	likely benign	14	21428976	21428976	Human	1	name
155689965	CV1826762	single nucleotide variant	NM_001170629.2(CHD8):c.1425C>T (p.Arg475=)	Inborn genetic diseases [RCV002391912]\|not provided [RCV003095141]	likely benign	14	21428045	21428045	Human	1	name
155721346	CV1827499	single nucleotide variant	NM_001170629.2(CHD8):c.1581A>T (p.Thr527=)	Inborn genetic diseases [RCV002405809]	likely benign	14	21427889	21427889	Human	1	name
155670148	CV1842522	single nucleotide variant	NM_001170629.2(CHD8):c.2646A>C (p.Thr882=)	Inborn genetic diseases [RCV002453015]\|not provided [RCV003574966]	likely benign	14	21408396	21408396	Human	1	name
155703156	CV1852296	single nucleotide variant	NM_001170629.2(CHD8):c.2670T>C (p.His890=)	Inborn genetic diseases [RCV002428807]\|not provided [RCV003660964]	likely benign	14	21408372	21408372	Human	1	name
155679153	CV1854163	single nucleotide variant	NM_001170629.2(CHD8):c.2748C>T (p.Gly916=)	Inborn genetic diseases [RCV002439314]\|not provided [RCV003111547]	benign\|likely benign	14	21407015	21407015	Human	1	name
156368388	CV1904931	single nucleotide variant	NM_001170629.2(CHD8):c.1323G>A (p.Gly441=)	not provided [RCV002582238]	benign	14	21428147	21428147	Human		name
10051489	CV193478	single nucleotide variant	NM_001170629.2(CHD8):c.1407T>C (p.Ile469=)	CHD8-related disorder [RCV004552989]\|Inborn genetic diseases [RCV002314626]\|not provided [RCV000177122]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	21428063	21428063	Human	2	name , alternate_id
156442174	CV1938086	single nucleotide variant	NM_001170629.2(CHD8):c.1272C>T (p.Ala424=)	not provided [RCV003112513]	likely benign	14	21428198	21428198	Human		name
155965297	CV1977913	single nucleotide variant	NM_001170629.2(CHD8):c.1395A>G (p.Val465=)	not provided [RCV002616926]	benign	14	21428075	21428075	Human		name
155985228	CV1979559	single nucleotide variant	NM_001170629.2(CHD8):c.1167C>T (p.Ser389=)	not provided [RCV002617778]	likely benign	14	21429012	21429012	Human		name
155943729	CV2062038	deletion	NM_001170629.2(CHD8):c.961del (p.Leu321fs)	not provided [RCV002815856]	pathogenic	14	21429218	21429218	Human		name
155971433	CV2062500	single nucleotide variant	NM_001170629.2(CHD8):c.1725C>T (p.Arg575=)	not provided [RCV002842098]	likely benign	14	21415899	21415899	Human		name
156279284	CV2074566	single nucleotide variant	NM_001170629.2(CHD8):c.1320G>C (p.Ser440=)	not provided [RCV002856324]	likely benign	14	21428150	21428150	Human		name
156088473	CV2080154	single nucleotide variant	NM_001170629.2(CHD8):c.1608C>T (p.Ile536=)	not provided [RCV002847627]	likely benign	14	21426236	21426236	Human		name
156134866	CV2169409	single nucleotide variant	NM_001170629.2(CHD8):c.2703G>A (p.Gln901=)	not provided [RCV003022312]	likely benign	14	21408339	21408339	Human		name
156042393	CV2215764	single nucleotide variant	NM_001170629.2(CHD8):c.158G>C (p.Gly53Ala)	Inborn genetic diseases [RCV002692350]	uncertain significance	14	21431486	21431486	Human	1	name
156296605	CV2297593	single nucleotide variant	NM_001170629.2(CHD8):c.236C>G (p.Ser79Cys)	Inborn genetic diseases [RCV002879296]\|not provided [RCV003660984]	uncertain significance	14	21431408	21431408	Human	1	name
329397101	CV2459921	single nucleotide variant	NM_001170629.2(CHD8):c.200T>A (p.Val67Asp)	Inborn genetic diseases [RCV003195342]	uncertain significance	14	21431444	21431444	Human	1	name
329847627	CV2524374	single nucleotide variant	NM_001170629.2(CHD8):c.238A>G (p.Lys80Glu)	not provided [RCV003227266]	uncertain significance	14	21431406	21431406	Human		name
329953513	CV2670273	single nucleotide variant	NM_001170629.2(CHD8):c.2070G>A (p.Lys690=)	Intellectual developmental disorder with autism and macrocephaly [RCV003234605]	uncertain significance	14	21414373	21414373	Human	1	name
11636422	CV267591	single nucleotide variant	NM_001170629.2(CHD8):c.1293A>C (p.Ser431=)	not provided [RCV000268485]	uncertain significance	14	21428177	21428177	Human		name
11643749	CV269731	single nucleotide variant	NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys)	CHD8-related disorder [RCV004547700]\|Inborn genetic diseases [RCV002317814]\|not provided [RCV000872901]\|not specified [RCV000399850]	benign\|likely benign	14	21431382	21431382	Human	2	name , alternate_id
11637244	CV271509	single nucleotide variant	NM_001170629.2(CHD8):c.254C>T (p.Pro85Leu)	not provided [RCV000282695]	uncertain significance	14	21431390	21431390	Human		name
401830353	CV2748079	single nucleotide variant	NM_001170629.2(CHD8):c.295C>T (p.Pro99Ser)	not provided [RCV003329686]	uncertain significance	14	21431349	21431349	Human		name
401915306	CV2810249	single nucleotide variant	NM_001170629.2(CHD8):c.2403A>G (p.Leu801=)	not provided [RCV003400583]	likely benign	14	21408787	21408787	Human		name
401934154	CV2810250	single nucleotide variant	NM_001170629.2(CHD8):c.2052T>C (p.Thr684=)	not provided [RCV003411037]	likely benign	14	21414391	21414391	Human		name
401916835	CV2829515	single nucleotide variant	NM_001170629.2(CHD8):c.208C>T (p.Pro70Ser)	not provided [RCV003443559]	uncertain significance	14	21431436	21431436	Human		name
402488431	CV2856469	single nucleotide variant	NM_001170629.2(CHD8):c.2493C>T (p.Asn831=)	not provided [RCV003572765]	likely benign	14	21408549	21408549	Human		name
402492413	CV2863003	single nucleotide variant	NM_001170629.2(CHD8):c.2484C>T (p.Asn828=)	not provided [RCV003573053]	uncertain significance	14	21408706	21408706	Human		name
402491709	CV2863075	single nucleotide variant	NM_001170629.2(CHD8):c.242A>C (p.Glu81Ala)	not provided [RCV003573078]	uncertain significance	14	21431402	21431402	Human		name
405020640	CV2866368	single nucleotide variant	NM_001170629.2(CHD8):c.289A>G (p.Thr97Ala)	not provided [RCV003577545]	uncertain significance	14	21431355	21431355	Human		name
405221565	CV2880818	single nucleotide variant	NM_001170629.2(CHD8):c.1299A>C (p.Pro433=)	not provided [RCV003554008]	likely benign	14	21428171	21428171	Human		name
402475651	CV2916781	single nucleotide variant	NM_001170629.2(CHD8):c.2766T>C (p.Ala922=)	not provided [RCV003571380]	likely benign	14	21406997	21406997	Human		name
405172102	CV2961435	single nucleotide variant	NM_001170629.2(CHD8):c.2346C>T (p.His782=)	not provided [RCV003675502]	likely benign	14	21409869	21409869	Human		name
405221179	CV2966069	single nucleotide variant	NM_001170629.2(CHD8):c.2640A>G (p.Thr880=)	not provided [RCV003680705]	likely benign	14	21408402	21408402	Human		name
405188895	CV2977767	single nucleotide variant	NM_001170629.2(CHD8):c.2439A>G (p.Glu813=)	not provided [RCV003706199]	likely benign	14	21408751	21408751	Human		name
405020802	CV2992682	single nucleotide variant	NM_001170629.2(CHD8):c.2103C>T (p.Phe701=)	not provided [RCV003694811]	likely benign	14	21414340	21414340	Human		name
405007031	CV3010092	single nucleotide variant	NM_001170629.2(CHD8):c.1266G>A (p.Leu422=)	not provided [RCV003693587]	likely benign	14	21428204	21428204	Human		name
405036883	CV3016862	single nucleotide variant	NM_001170629.2(CHD8):c.1767G>A (p.Leu589=)	not provided [RCV003696013]	likely benign	14	21415857	21415857	Human		name
405095307	CV3022910	single nucleotide variant	NM_001170629.2(CHD8):c.1572C>T (p.Ala524=)	not provided [RCV003700038]	likely benign	14	21427898	21427898	Human		name
402510015	CV3042475	single nucleotide variant	NM_001170629.2(CHD8):c.1056G>A (p.Gln352=)	not provided [RCV003715609]	uncertain significance	14	21429123	21429123	Human		name
405202825	CV3052708	single nucleotide variant	NM_001170629.2(CHD8):c.1494C>T (p.Gly498=)	not provided [RCV003730953]	benign	14	21427976	21427976	Human		name
405129583	CV3054532	single nucleotide variant	NM_001170629.2(CHD8):c.1176A>G (p.Gln392=)	not provided [RCV003724705]	likely benign	14	21429003	21429003	Human		name
405211040	CV3059090	single nucleotide variant	NM_001170629.2(CHD8):c.290C>G (p.Thr97Ser)	not provided [RCV003732012]	uncertain significance	14	21431354	21431354	Human		name
405228221	CV3065743	single nucleotide variant	NM_001170629.2(CHD8):c.2763C>T (p.Asp921=)	not provided [RCV003734430]	benign	14	21407000	21407000	Human		name
405102294	CV3119122	single nucleotide variant	NM_001170629.2(CHD8):c.2196G>A (p.Glu732=)	not provided [RCV003811573]	likely benign	14	21412943	21412943	Human		name
405215261	CV3124498	single nucleotide variant	NM_001170629.2(CHD8):c.1263T>A (p.Val421=)	not provided [RCV003823860]	likely benign	14	21428207	21428207	Human		name
405159137	CV3124917	single nucleotide variant	NM_001170629.2(CHD8):c.2805T>C (p.Pro935=)	not provided [RCV003818188]	likely benign	14	21406958	21406958	Human		name
405127266	CV3132875	single nucleotide variant	NM_001170629.2(CHD8):c.1257T>G (p.Val419=)	not provided [RCV003838038]	likely benign	14	21428213	21428213	Human		name
405056901	CV3138603	single nucleotide variant	NM_001170629.2(CHD8):c.2988G>A (p.Pro996=)	not provided [RCV003832448]	likely benign	14	21405784	21405784	Human		name
405137967	CV3155034	single nucleotide variant	NM_001170629.2(CHD8):c.2934A>G (p.Thr978=)	not provided [RCV003855272]\|not specified [RCV004527011]	benign\|likely benign	14	21405838	21405838	Human		name
405190400	CV3156995	single nucleotide variant	NM_001170629.2(CHD8):c.1690C>A (p.Arg564=)	not provided [RCV003859683]	likely benign	14	21426154	21426154	Human		name
405207523	CV3162128	single nucleotide variant	NM_001170629.2(CHD8):c.1074A>G (p.Pro358=)	not provided [RCV003861623]	likely benign	14	21429105	21429105	Human		name
405238939	CV3169648	single nucleotide variant	NM_001170629.2(CHD8):c.1890G>A (p.Gln630=)	not provided [RCV003866736]	likely benign	14	21415734	21415734	Human		name
402479636	CV3170593	single nucleotide variant	NM_001170629.2(CHD8):c.1387C>A (p.Arg463=)	not provided [RCV003875795]	likely benign	14	21428083	21428083	Human		name
402465443	CV3177270	single nucleotide variant	NM_001170629.2(CHD8):c.1974T>G (p.Pro658=)	not provided [RCV003872901]	likely benign	14	21414988	21414988	Human		name
405871884	CV3398120	single nucleotide variant	NM_001170629.2(CHD8):c.1354T>C (p.Leu452=)	not provided [RCV004575121]	likely benign	14	21428116	21428116	Human		name
407426527	CV3409990	single nucleotide variant	NM_001170629.2(CHD8):c.1170A>G (p.Pro390=)	not provided [RCV004585922]	likely benign	14	21429009	21429009	Human		name
408381966	CV3526659	single nucleotide variant	NM_001170629.2(CHD8):c.192T>G (p.Ser64Arg)	not provided [RCV004771972]	uncertain significance	14	21431452	21431452	Human		name
596920907	CV3534376	single nucleotide variant	NM_001170629.2(CHD8):c.2910A>G (p.Glu970=)	not specified [RCV004783595]	uncertain significance	14	21405862	21405862	Human		name
12791937	CV362441	single nucleotide variant	NM_001170629.2(CHD8):c.161G>T (p.Gly54Val)	Intellectual developmental disorder with autism and macrocephaly [RCV000417102]	likely benign	14	21431483	21431483	Human	1	name
597843340	CV3735894	single nucleotide variant	NM_001170629.2(CHD8):c.206C>T (p.Pro69Leu)	not provided [RCV005065243]	uncertain significance	14	21431438	21431438	Human		name
597915837	CV3740766	single nucleotide variant	NM_001170629.2(CHD8):c.1032G>A (p.Val344=)	not provided [RCV005074103]	likely benign	14	21429147	21429147	Human		name
597892425	CV3743839	single nucleotide variant	NM_001170629.2(CHD8):c.2241C>T (p.Tyr747=)	not provided [RCV005071309]	likely benign	14	21409974	21409974	Human		name
597924680	CV3748518	single nucleotide variant	NM_001170629.2(CHD8):c.2959C>T (p.Leu987=)	not provided [RCV005075166]	likely benign	14	21405813	21405813	Human		name
597860758	CV3748708	single nucleotide variant	NM_001170629.2(CHD8):c.2373G>T (p.Pro791=)	not provided [RCV005067340]	likely benign	14	21408817	21408817	Human		name
597970183	CV3750165	single nucleotide variant	NM_001170629.2(CHD8):c.2334T>C (p.Ile778=)	not provided [RCV005084106]	likely benign	14	21409881	21409881	Human		name
597956840	CV3754577	single nucleotide variant	NM_001170629.2(CHD8):c.2028C>T (p.Ser676=)	not provided [RCV005080427]	likely benign	14	21414415	21414415	Human		name
597957716	CV3755146	single nucleotide variant	NM_001170629.2(CHD8):c.2010C>G (p.Val670=)	not provided [RCV005080816]	likely benign	14	21414952	21414952	Human		name
597851274	CV3761880	single nucleotide variant	NM_001170629.2(CHD8):c.1410G>A (p.Ala470=)	not provided [RCV005087977]	likely benign	14	21428060	21428060	Human		name
597946116	CV3790052	single nucleotide variant	NM_001170629.2(CHD8):c.232C>T (p.Leu78Phe)	not provided [RCV005134753]	uncertain significance	14	21431412	21431412	Human		name
597887158	CV3800153	single nucleotide variant	NM_001170629.2(CHD8):c.2637T>C (p.Asn879=)	not provided [RCV005150633]	likely benign	14	21408405	21408405	Human		name
597950910	CV3815245	single nucleotide variant	NM_001170629.2(CHD8):c.1842C>T (p.Leu614=)	not provided [RCV005161195]	likely benign	14	21415782	21415782	Human		name
597929492	CV3816263	single nucleotide variant	NM_001170629.2(CHD8):c.1377G>A (p.Glu459=)	not provided [RCV005156844]	likely benign	14	21428093	21428093	Human		name
597859190	CV3822455	single nucleotide variant	NM_001170629.2(CHD8):c.152A>G (p.Gln51Arg)	not provided [RCV005174753]	likely benign	14	21431492	21431492	Human		name
597847004	CV3828019	single nucleotide variant	NM_001170629.2(CHD8):c.2745A>G (p.Pro915=)	not provided [RCV005173094]	likely benign	14	21407018	21407018	Human		name
597975194	CV3832268	single nucleotide variant	NM_001170629.2(CHD8):c.2259T>C (p.Ser753=)	not provided [RCV005169005]	likely benign	14	21409956	21409956	Human		name
597958299	CV3849092	single nucleotide variant	NM_001170629.2(CHD8):c.2955A>G (p.Glu985=)	not provided [RCV005192093]	likely benign	14	21405817	21405817	Human		name
597883885	CV3858000	single nucleotide variant	NM_001170629.2(CHD8):c.2811T>C (p.Leu937=)	not provided [RCV005199428]	likely benign	14	21406952	21406952	Human		name
598126146	CV3881793	single nucleotide variant	NM_001170629.2(CHD8):c.125C>G (p.Ser42Cys)	not provided [RCV005233344]	uncertain significance	14	21431519	21431519	Human		name
598159971	CV3897195	single nucleotide variant	NM_001170629.2(CHD8):c.272C>T (p.Thr91Ile)	not provided [RCV005368169]	uncertain significance	14	21431372	21431372	Human		name
598213747	CV3940909	single nucleotide variant	NM_001170629.2(CHD8):c.283T>G (p.Tyr95Asp)	Inborn genetic diseases [RCV005316420]	uncertain significance	14	21431361	21431361	Human	1	name
598213766	CV3940916	single nucleotide variant	NM_001170629.2(CHD8):c.260C>T (p.Pro87Leu)	Inborn genetic diseases [RCV005316425]	uncertain significance	14	21431384	21431384	Human	1	name
616936307	CV4016503	deletion	NM_001170629.2(CHD8):c.600del (p.Thr201fs)	Intellectual developmental disorder with autism and macrocephaly [RCV005415370]	likely pathogenic	14	21431044	21431044	Human	1	name
12901398	CV409079	single nucleotide variant	NM_001170629.2(CHD8):c.181T>C (p.Ser61Pro)	not provided [RCV000484572]	conflicting interpretations of pathogenicity\|uncertain significance	14	21431463	21431463	Human		name
13211076	CV424700	deletion	NM_001170629.2(CHD8):c.347del (p.Thr116fs)	Intellectual developmental disorder with autism and macrocephaly [RCV000496959]	pathogenic	14	21431297	21431297	Human	1	name
8570549	CV48225	single nucleotide variant	NM_001170629.2(CHD8):c.185C>G (p.Ser62Ter)	Intellectual developmental disorder with autism and macrocephaly [RCV000032826]	pathogenic\|risk factor	14	21431459	21431459	Human	1	name
13521526	CV495574	duplication	NM_001170629.2(CHD8):c.336dup (p.Ser113fs)	not provided [RCV000599521]	pathogenic	14	21431307	21431308	Human		name
13828567	CV579892	single nucleotide variant	NM_001170629.2(CHD8):c.2016C>T (p.Tyr672=)	Inborn genetic diseases [RCV002312743]\|not provided [RCV002532996]	likely benign	14	21414946	21414946	Human	1	name
13828659	CV579931	single nucleotide variant	NM_001170629.2(CHD8):c.2700A>G (p.Gln900=)	Inborn genetic diseases [RCV002312775]	likely benign	14	21408342	21408342	Human	1	name
13830068	CV579935	single nucleotide variant	NM_001170629.2(CHD8):c.2577T>C (p.His859=)	Inborn genetic diseases [RCV002316682]	likely benign	14	21408465	21408465	Human	1	name
13829266	CV579938	single nucleotide variant	NM_001170629.2(CHD8):c.1437C>T (p.Asn479=)	CHD8-related disorder [RCV004547901]\|Inborn genetic diseases [RCV002313554]\|not provided [RCV000864272]	benign\|likely benign	14	21428033	21428033	Human	2	name , alternate_id
13830280	CV579939	single nucleotide variant	NM_001170629.2(CHD8):c.1689T>A (p.Pro563=)	Inborn genetic diseases [RCV002316898]	likely benign	14	21426155	21426155	Human	1	name
13828283	CV579940	single nucleotide variant	NM_001170629.2(CHD8):c.172G>A (p.Val58Met)	Inborn genetic diseases [RCV002312296]\|not provided [RCV001692264]	benign	14	21431472	21431472	Human	2	name
13828283	CV579940	single nucleotide variant	NM_001170629.2(CHD8):c.172G>A (p.Val58Met)	Inborn genetic diseases [RCV002312296]\|not provided [RCV001692264]	benign	14	21431472	21431473	Human	2	name
13828990	CV579955	single nucleotide variant	NM_001170629.2(CHD8):c.145A>G (p.Met49Val)	CHD8-related disorder [RCV004737973]\|Inborn genetic diseases [RCV002314410]\|not provided [RCV000872872]	benign	14	21431499	21431499	Human	2	name , alternate_id
13828771	CV580158	single nucleotide variant	NM_001170629.2(CHD8):c.2373G>A (p.Pro791=)	CHD8-related disorder [RCV004547897]\|Inborn genetic diseases [RCV002316055]\|not provided [RCV000865145]	benign\|likely benign	14	21408817	21408817	Human	2	name , alternate_id
13837656	CV588946	single nucleotide variant	NM_001170629.2(CHD8):c.2691G>A (p.Gln897=)	not provided [RCV000734140]	conflicting interpretations of pathogenicity\|uncertain significance	14	21408351	21408351	Human		name
15103748	CV688254	single nucleotide variant	NM_001170629.2(CHD8):c.2229C>T (p.Pro743=)	Inborn genetic diseases [RCV002427174]\|not provided [RCV000870734]	likely benign	14	21409986	21409986	Human	1	name
15133651	CV693457	single nucleotide variant	NM_001170629.2(CHD8):c.1473C>T (p.Ser491=)	Inborn genetic diseases [RCV002390842]\|not provided [RCV000876345]	likely benign	14	21427997	21427997	Human	1	name
15107044	CV753972	single nucleotide variant	NM_001170629.2(CHD8):c.1491A>G (p.Glu497=)	not provided [RCV000915875]	likely benign	14	21427979	21427979	Human		name
15140802	CV753973	single nucleotide variant	NM_001170629.2(CHD8):c.1107C>T (p.Ser369=)	not provided [RCV000921736]	likely benign	14	21429072	21429072	Human		name
15138618	CV769720	single nucleotide variant	NM_001170629.2(CHD8):c.1755T>C (p.Tyr585=)	not provided [RCV000943424]	likely benign	14	21415869	21415869	Human		name
21074427	CV796991	single nucleotide variant	NM_001170629.2(CHD8):c.1320G>A (p.Ser440=)	not provided [RCV000995117]	conflicting interpretations of pathogenicity\|uncertain significance	14	21428150	21428150	Human		name
25317391	CV805785	single nucleotide variant	NM_001170629.2(CHD8):c.142C>T (p.Gln48Ter)	CHD8-related disorder [RCV001824911]\|not provided [RCV001008005]	pathogenic\|not provided	14	21431502	21431502	Human	1	name , alternate_id
126744445	CV1017786	single nucleotide variant	NM_001170629.2(CHD8):c.412G>C (p.Val138Leu)	Intellectual developmental disorder with autism and macrocephaly [RCV001330441]\|not provided [RCV003718403]	uncertain significance	14	21431232	21431232	Human	1	name
150337618	CV1166096	single nucleotide variant	NM_001170629.2(CHD8):c.3492C>T (p.Ile1164=)	not provided [RCV001532740]	likely benign	14	21403479	21403479	Human		name
150427467	CV1188102	single nucleotide variant	NM_001170629.2(CHD8):c.7569C>A (p.Thr2523=)	not provided [RCV001560962]	likely benign	14	21385790	21385790	Human		name
150405762	CV1191558	single nucleotide variant	NM_001170629.2(CHD8):c.5214C>T (p.Phe1738=)	Inborn genetic diseases [RCV002343741]\|not provided [RCV001564431]	likely benign	14	21395088	21395088	Human	1	name
150420693	CV1194805	single nucleotide variant	NM_001170629.2(CHD8):c.4410C>T (p.Phe1470=)	CHD8-related disorder [RCV004738345]\|not provided [RCV001570230]	likely benign	14	21400573	21400573	Human	1	name , alternate_id
150432377	CV1200625	single nucleotide variant	NM_001170629.2(CHD8):c.398A>G (p.Asn133Ser)	not provided [RCV001581348]	likely benign	14	21431246	21431246	Human		name
150489282	CV1208407	duplication	NM_001170629.2(CHD8):c.7182+163_7182+165dup	not provided [RCV001592267]	likely benign	14	21390768	21390769	Human		name
150470277	CV1219214	deletion	NM_001170629.2(CHD8):c.7182+177_7182+178del	not provided [RCV001614966]	benign	14	21390769	21390770	Human		name
150430717	CV1231018	microsatellite	NM_001170629.2(CHD8):c.2908-168_2908-167del	not provided [RCV001641567]	benign	14	21406031	21406032	Human		name
150434941	CV1244076	single nucleotide variant	NM_001170629.2(CHD8):c.3396C>T (p.Ala1132=)	CHD8-related disorder [RCV004551962]\|not provided [RCV001665283]	benign\|likely benign	14	21403575	21403575	Human	1	name , alternate_id
150550977	CV1292355	single nucleotide variant	NM_001170629.2(CHD8):c.416C>A (p.Ser139Tyr)	not provided [RCV001753962]	uncertain significance	14	21431228	21431228	Human		name
150554331	CV1295753	single nucleotide variant	NM_001170629.2(CHD8):c.493C>T (p.Pro165Ser)	not provided [RCV001770983]	uncertain significance	14	21431151	21431151	Human		name
150533913	CV1300287	single nucleotide variant	NM_001170629.2(CHD8):c.661A>T (p.Asn221Tyr)	not provided [RCV001758415]	uncertain significance	14	21430983	21430983	Human		name
150546588	CV1301079	single nucleotide variant	NM_001170629.2(CHD8):c.320A>G (p.Gln107Arg)	not provided [RCV001763562]	uncertain significance	14	21431324	21431324	Human		name
150552276	CV1301219	single nucleotide variant	NM_001170629.2(CHD8):c.506C>T (p.Ser169Leu)	not provided [RCV001767629]	uncertain significance	14	21431138	21431138	Human		name
150528120	CV1301648	single nucleotide variant	NM_001170629.2(CHD8):c.799C>T (p.Pro267Ser)	not provided [RCV001755020]	uncertain significance	14	21430845	21430845	Human		name
150553436	CV1303432	single nucleotide variant	NM_001170629.2(CHD8):c.605T>C (p.Phe202Ser)	not provided [RCV001769122]	uncertain significance	14	21431039	21431039	Human		name
150554694	CV1304416	single nucleotide variant	NM_001170629.2(CHD8):c.545G>A (p.Gly182Asp)	not provided [RCV001771386]	conflicting interpretations of pathogenicity\|uncertain significance	14	21431099	21431099	Human		name
150543581	CV1309542	single nucleotide variant	NM_001170629.2(CHD8):c.656C>G (p.Ser219Cys)	not provided [RCV003238591]	uncertain significance	14	21430988	21430988	Human		name
151234416	CV1320265	single nucleotide variant	NM_001170629.2(CHD8):c.4113C>G (p.Pro1371=)	not provided [RCV001799888]	likely benign	14	21401463	21401463	Human		name
151234459	CV1320274	single nucleotide variant	NM_001170629.2(CHD8):c.676G>A (p.Ala226Thr)	not provided [RCV001799897]	uncertain significance	14	21430968	21430968	Human		name
151350039	CV1324570	single nucleotide variant	NM_001170629.2(CHD8):c.314C>T (p.Pro105Leu)	Intellectual developmental disorder with autism and macrocephaly [RCV001809015]	uncertain significance	14	21431330	21431330	Human	1	name
151350041	CV1324571	single nucleotide variant	NM_001170629.2(CHD8):c.635G>A (p.Arg212Gln)	Intellectual developmental disorder with autism and macrocephaly [RCV001809016]\|not provided [RCV005057638]	uncertain significance	14	21431009	21431009	Human	1	name
152042969	CV1522280	single nucleotide variant	NM_001170629.2(CHD8):c.7563G>T (p.Val2521=)	not provided [RCV002088199]	likely benign	14	21385796	21385796	Human		name
152038189	CV1524126	single nucleotide variant	NM_001170629.2(CHD8):c.4851A>G (p.Gln1617=)	not provided [RCV002125685]	likely benign	14	21399672	21399672	Human		name
152129833	CV1549376	single nucleotide variant	NM_001170629.2(CHD8):c.5070T>C (p.Asp1690=)	not provided [RCV002099332]	likely benign	14	21395874	21395874	Human		name
152135081	CV1549924	single nucleotide variant	NM_001170629.2(CHD8):c.7248G>A (p.Lys2416=)	not provided [RCV002199837]	likely benign	14	21386111	21386111	Human		name
152076785	CV1564569	single nucleotide variant	NM_001170629.2(CHD8):c.7452T>A (p.Pro2484=)	not provided [RCV002192515]	likely benign	14	21385907	21385907	Human		name
153000073	CV1682843	single nucleotide variant	NM_001170629.2(CHD8):c.7365G>A (p.Gln2455=)	See cases [RCV002252853]\|not provided [RCV003094105]	likely benign\|uncertain significance	14	21385994	21385994	Human		name
153301624	CV1687878	single nucleotide variant	NM_001170629.2(CHD8):c.721C>T (p.Pro241Ser)	not provided [RCV002265104]	uncertain significance	14	21430923	21430923	Human		name
153301071	CV1688915	deletion	NM_001170629.2(CHD8):c.1720del (p.Arg574fs)	CHD8-associated Neurodevelopmental syndrome [RCV002266643]	likely pathogenic	14	21415904	21415904	Human		name
153349020	CV1693197	single nucleotide variant	NM_001170629.2(CHD8):c.400C>T (p.Pro134Ser)	not provided [RCV002275403]	conflicting interpretations of pathogenicity\|uncertain significance	14	21431244	21431244	Human		name
155265296	CV1695496	single nucleotide variant	NM_001170629.2(CHD8):c.6240A>G (p.Pro2080=)	not provided [RCV002280228]	uncertain significance	14	21393555	21393555	Human		name
155663929	CV1773195	single nucleotide variant	NM_001170629.2(CHD8):c.913G>C (p.Val305Leu)	not provided [RCV002296907]	uncertain significance	14	21429266	21429266	Human		name
155708731	CV1785255	single nucleotide variant	NM_001170629.2(CHD8):c.3213C>T (p.Phe1071=)	Inborn genetic diseases [RCV002324618]	likely benign	14	21405303	21405303	Human	1	name
155664929	CV1786683	single nucleotide variant	NM_001170629.2(CHD8):c.371A>G (p.Lys124Arg)	Inborn genetic diseases [RCV002349065]\|not provided [RCV002473368]	likely benign\|uncertain significance	14	21431273	21431273	Human	1	name
155693664	CV1787014	single nucleotide variant	NM_001170629.2(CHD8):c.3888A>G (p.Gln1296=)	Inborn genetic diseases [RCV002357373]\|not provided [RCV003102469]	likely benign	14	21402131	21402131	Human	1	name
155672123	CV1796698	single nucleotide variant	NM_001170629.2(CHD8):c.3789C>T (p.Tyr1263=)	Inborn genetic diseases [RCV002351187]\|not provided [RCV003094367]	likely benign	14	21402429	21402429	Human	1	name
155705273	CV1797147	single nucleotide variant	NM_001170629.2(CHD8):c.410G>T (p.Gly137Val)	Inborn genetic diseases [RCV002323400]	uncertain significance	14	21431234	21431234	Human	1	name
155665650	CV1804158	single nucleotide variant	NM_001170629.2(CHD8):c.6222C>T (p.Asp2074=)	Inborn genetic diseases [RCV002366536]	likely benign	14	21393573	21393573	Human	1	name
155736987	CV1809153	single nucleotide variant	NM_001170629.2(CHD8):c.4788A>G (p.Ala1596=)	Inborn genetic diseases [RCV002330701]\|not provided [RCV005096657]	likely benign	14	21400010	21400010	Human	1	name
155705305	CV1811163	single nucleotide variant	NM_001170629.2(CHD8):c.6099G>A (p.Arg2033=)	Inborn genetic diseases [RCV002360090]	likely benign	14	21393696	21393696	Human	1	name
155680695	CV1812700	single nucleotide variant	NM_001170629.2(CHD8):c.7230T>A (p.Ile2410=)	Inborn genetic diseases [RCV002371013]	likely benign	14	21386129	21386129	Human	1	name
155722841	CV1814593	single nucleotide variant	NM_001170629.2(CHD8):c.881C>A (p.Pro294Gln)	Inborn genetic diseases [RCV002449797]\|not provided [RCV003669294]	uncertain significance	14	21429298	21429298	Human	1	name
155680093	CV1815865	single nucleotide variant	NM_001170629.2(CHD8):c.7200G>A (p.Thr2400=)	Inborn genetic diseases [RCV002370861]\|not provided [RCV003098503]	likely benign	14	21386159	21386159	Human	1	name
155687824	CV1816080	single nucleotide variant	NM_001170629.2(CHD8):c.7497C>T (p.Pro2499=)	Inborn genetic diseases [RCV002391579]	likely benign	14	21385862	21385862	Human	1	name
155676882	CV1818757	single nucleotide variant	NM_001170629.2(CHD8):c.6795C>T (p.Phe2265=)	Inborn genetic diseases [RCV002369435]\|Intellectual developmental disorder with autism and macrocephaly [RCV003234191]	likely benign\|uncertain significance\|not provided	14	21391923	21391923	Human	2	name
155677309	CV1818847	single nucleotide variant	NM_001170629.2(CHD8):c.680A>G (p.Lys227Arg)	Inborn genetic diseases [RCV002369525]\|not provided [RCV003546794]	likely benign\|uncertain significance	14	21430964	21430964	Human	1	name
155670607	CV1819220	single nucleotide variant	NM_001170629.2(CHD8):c.710G>A (p.Arg237His)	Inborn genetic diseases [RCV002367400]\|not provided [RCV005097065]	likely benign\|uncertain significance	14	21430934	21430934	Human	1	name
155716858	CV1822817	single nucleotide variant	NM_001170629.2(CHD8):c.731C>T (p.Pro244Leu)	Inborn genetic diseases [RCV002380096]	uncertain significance	14	21430913	21430913	Human	1	name
156410095	CV1888168	single nucleotide variant	NM_001170629.2(CHD8):c.4413G>A (p.Lys1471=)	not provided [RCV003071934]	likely benign	14	21400570	21400570	Human		name
156403657	CV1901732	single nucleotide variant	NM_001170629.2(CHD8):c.6531T>A (p.Pro2177=)	not provided [RCV002585258]	likely benign	14	21392747	21392747	Human		name
156209063	CV1909627	single nucleotide variant	NM_001170629.2(CHD8):c.4665T>C (p.Tyr1555=)	not provided [RCV002595995]	likely benign	14	21400213	21400213	Human		name
10051397	CV193325	single nucleotide variant	NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=)	Inborn genetic diseases [RCV002312718]\|not provided [RCV000176921]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	21394956	21394956	Human	1	name
10051728	CV193833	single nucleotide variant	NM_001170629.2(CHD8):c.6232C>T (p.Leu2078=)	CHD8-related disorder [RCV004552996]\|Inborn genetic diseases [RCV002362906]\|not provided [RCV002517712]\|not specified [RCV000177527]	benign\|likely benign	14	21393563	21393563	Human	2	name , alternate_id
10051804	CV193932	single nucleotide variant	NM_001170629.2(CHD8):c.6447A>G (p.Gln2149=)	not provided [RCV000177636]	conflicting interpretations of pathogenicity\|uncertain significance	14	21393127	21393127	Human		name
10051986	CV194160	single nucleotide variant	NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=)	Inborn genetic diseases [RCV002390434]\|not provided [RCV000177902]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	21385739	21385739	Human	1	name
156440458	CV1943508	single nucleotide variant	NM_001170629.2(CHD8):c.6051C>T (p.Pro2017=)	not provided [RCV003110493]	likely benign	14	21393744	21393744	Human		name
156434312	CV1946940	single nucleotide variant	NM_001170629.2(CHD8):c.4461C>T (p.Leu1487=)	not provided [RCV003104393]	likely benign	14	21400522	21400522	Human		name
156438382	CV1946983	single nucleotide variant	NM_001170629.2(CHD8):c.856C>T (p.Arg286Cys)	CHD8-related disorder [RCV004554028]\|not provided [RCV003108323]	uncertain significance	14	21429323	21429323	Human	1	name , alternate_id
156438748	CV1947364	single nucleotide variant	NM_001170629.2(CHD8):c.6759T>G (p.Val2253=)	not provided [RCV003108695]	likely benign	14	21392519	21392519	Human		name
156173822	CV1956433	single nucleotide variant	NM_001170629.2(CHD8):c.4941C>T (p.Thr1647=)	not provided [RCV002573892]	likely benign	14	21397933	21397933	Human		name
156214209	CV1963187	single nucleotide variant	NM_001170629.2(CHD8):c.6930C>T (p.Asp2310=)	CHD8-related disorder [RCV004548316]\|not provided [RCV002575269]	likely benign	14	21391598	21391598	Human	1	name , alternate_id
156397374	CV1965707	single nucleotide variant	NM_001170629.2(CHD8):c.6498C>T (p.Leu2166=)	not provided [RCV002584513]	likely benign	14	21392780	21392780	Human		name
156280833	CV1967915	single nucleotide variant	NM_001170629.2(CHD8):c.6081G>A (p.Glu2027=)	not provided [RCV002598389]	likely benign	14	21393714	21393714	Human		name
156320962	CV1968587	single nucleotide variant	NM_001170629.2(CHD8):c.7590G>A (p.Arg2530=)	not provided [RCV002630338]	likely benign	14	21385769	21385769	Human		name
156143173	CV1973703	single nucleotide variant	NM_001170629.2(CHD8):c.3312T>C (p.Ala1104=)	not provided [RCV002593901]	likely benign	14	21403659	21403659	Human		name
156353393	CV1974811	single nucleotide variant	NM_001170629.2(CHD8):c.890G>T (p.Gly297Val)	not provided [RCV002601987]	uncertain significance	14	21429289	21429289	Human		name
156326778	CV1982159	single nucleotide variant	NM_001170629.2(CHD8):c.6945C>A (p.Ile2315=)	not provided [RCV002649600]	likely benign	14	21391583	21391583	Human		name
155992224	CV1990558	single nucleotide variant	NM_001170629.2(CHD8):c.3018C>T (p.Leu1006=)	not provided [RCV002618070]	likely benign	14	21405754	21405754	Human		name
156124752	CV1995261	single nucleotide variant	NM_001170629.2(CHD8):c.726C>A (p.Ser242Arg)	not provided [RCV002662992]	uncertain significance	14	21430918	21430918	Human		name
156390500	CV1996219	single nucleotide variant	NM_001170629.2(CHD8):c.3489C>T (p.Asp1163=)	not provided [RCV002654332]	likely benign	14	21403482	21403482	Human		name
156380586	CV1997969	single nucleotide variant	NM_001170629.2(CHD8):c.5097C>G (p.Leu1699=)	not provided [RCV002653630]	likely benign	14	21395847	21395847	Human		name
156376512	CV2000328	single nucleotide variant	NM_001170629.2(CHD8):c.7263G>A (p.Arg2421=)	not provided [RCV002653337]	likely benign	14	21386096	21386096	Human		name
156209602	CV2000870	single nucleotide variant	NM_001170629.2(CHD8):c.941T>C (p.Ile314Thr)	not provided [RCV002666795]	uncertain significance	14	21429238	21429238	Human		name
156361288	CV2003201	single nucleotide variant	NM_001170629.2(CHD8):c.408G>C (p.Met136Ile)	not provided [RCV002676265]	uncertain significance	14	21431236	21431236	Human		name
155942314	CV2006511	single nucleotide variant	NM_001170629.2(CHD8):c.4575A>G (p.Leu1525=)	not provided [RCV002685542]\|not specified [RCV004782954]	likely benign	14	21400303	21400303	Human		name
156266852	CV2011241	single nucleotide variant	NM_001170629.2(CHD8):c.382A>G (p.Ile128Val)	not provided [RCV002714846]	uncertain significance	14	21431262	21431262	Human		name
156305533	CV2013706	single nucleotide variant	NM_001170629.2(CHD8):c.6513A>G (p.Val2171=)	not provided [RCV002716259]	likely benign	14	21392765	21392765	Human		name
156090512	CV2017639	single nucleotide variant	NM_001170629.2(CHD8):c.3373C>T (p.Leu1125=)	not provided [RCV002694924]	likely benign	14	21403598	21403598	Human		name
156359000	CV2020350	single nucleotide variant	NM_001170629.2(CHD8):c.5910A>G (p.Ala1970=)	not provided [RCV002720730]	likely benign	14	21393885	21393885	Human		name
155919656	CV2027300	single nucleotide variant	NM_001170629.2(CHD8):c.307G>A (p.Glu103Lys)	not provided [RCV002750647]	uncertain significance	14	21431337	21431337	Human		name
156310121	CV2031485	single nucleotide variant	NM_001170629.2(CHD8):c.4620A>G (p.Ser1540=)	not provided [RCV002716484]	likely benign	14	21400258	21400258	Human		name
155945608	CV2032707	single nucleotide variant	NM_001170629.2(CHD8):c.3984G>A (p.Glu1328=)	not provided [RCV002730383]	likely benign	14	21402035	21402035	Human		name
156121504	CV2039623	single nucleotide variant	NM_001170629.2(CHD8):c.6717C>T (p.Phe2239=)	not provided [RCV002800244]	likely benign	14	21392561	21392561	Human		name
156047564	CV2059910	single nucleotide variant	NM_001170629.2(CHD8):c.5388A>G (p.Gln1796=)	not provided [RCV002796657]	likely benign	14	21394914	21394914	Human		name
156208970	CV2074145	deletion	NM_001170629.2(CHD8):c.2532del (p.Gln845fs)	not provided [RCV002829223]	pathogenic	14	21408510	21408510	Human		name
155951865	CV2076440	single nucleotide variant	NM_001170629.2(CHD8):c.6864G>A (p.Gly2288=)	not provided [RCV002862391]	likely benign	14	21391854	21391854	Human		name
156314883	CV2089708	single nucleotide variant	NM_001170629.2(CHD8):c.7533G>A (p.Leu2511=)	CHD8-related disorder [RCV004548377]\|not provided [RCV002898930]	likely benign	14	21385826	21385826	Human	1	name , alternate_id
156199043	CV2092407	single nucleotide variant	NM_001170629.2(CHD8):c.4686A>G (p.Gln1562=)	not provided [RCV002917720]	likely benign	14	21400192	21400192	Human		name
156090157	CV2092901	single nucleotide variant	NM_001170629.2(CHD8):c.3786C>T (p.Ser1262=)	not provided [RCV002926648]	likely benign	14	21402432	21402432	Human		name
156151216	CV2101380	single nucleotide variant	NM_001170629.2(CHD8):c.4923C>T (p.Gly1641=)	not provided [RCV002890659]\|not specified [RCV004765587]	likely benign\|uncertain significance	14	21397951	21397951	Human		name
156003137	CV2106887	single nucleotide variant	NM_001170629.2(CHD8):c.4218C>T (p.Arg1406=)	not provided [RCV002947884]	benign	14	21401027	21401027	Human		name
156155222	CV2121892	single nucleotide variant	NM_001170629.2(CHD8):c.302G>T (p.Ser101Ile)	not provided [RCV002929040]	uncertain significance	14	21431342	21431342	Human		name
156243005	CV2126105	single nucleotide variant	NM_001170629.2(CHD8):c.7605A>G (p.Gln2535=)	not provided [RCV002958938]	likely benign	14	21385754	21385754	Human		name
156030733	CV2135453	single nucleotide variant	NM_001170629.2(CHD8):c.4740G>A (p.Arg1580=)	not provided [RCV002999129]	likely benign	14	21400058	21400058	Human		name
156084209	CV2138405	single nucleotide variant	NM_001170629.2(CHD8):c.7632A>G (p.Glu2544=)	not provided [RCV002979368]	likely benign	14	21385727	21385727	Human		name
155991199	CV2147546	single nucleotide variant	NM_001170629.2(CHD8):c.3387T>G (p.Val1129=)	not provided [RCV003016836]	likely benign	14	21403584	21403584	Human		name
155906351	CV2148144	single nucleotide variant	NM_001170629.2(CHD8):c.4233G>A (p.Leu1411=)	not provided [RCV003011946]	likely benign	14	21401012	21401012	Human		name
156031224	CV2156435	single nucleotide variant	NM_001170629.2(CHD8):c.664A>G (p.Thr222Ala)	not provided [RCV003018684]	uncertain significance	14	21430980	21430980	Human		name
156359008	CV2162305	single nucleotide variant	NM_001170629.2(CHD8):c.325G>A (p.Val109Ile)	not provided [RCV003031431]	uncertain significance	14	21431319	21431319	Human		name
156194729	CV2162483	single nucleotide variant	NM_001170629.2(CHD8):c.5190G>T (p.Val1730=)	not provided [RCV003041763]	likely benign	14	21395112	21395112	Human		name
156093401	CV2167193	single nucleotide variant	NM_001170629.2(CHD8):c.3354T>A (p.Ile1118=)	not provided [RCV003038302]	uncertain significance	14	21403617	21403617	Human		name
155992845	CV2171333	single nucleotide variant	NM_001170629.2(CHD8):c.959A>G (p.Gln320Arg)	not provided [RCV003034407]	uncertain significance	14	21429220	21429220	Human		name
156293538	CV2183150	single nucleotide variant	NM_001170629.2(CHD8):c.6844C>T (p.Leu2282=)	not provided [RCV003027779]	likely benign	14	21391874	21391874	Human		name
156343330	CV2186071	single nucleotide variant	NM_001170629.2(CHD8):c.3633T>C (p.Ala1211=)	not provided [RCV003047865]	likely benign	14	21403098	21403098	Human		name
156101538	CV2386794	single nucleotide variant	NM_001170629.2(CHD8):c.536A>G (p.Gln179Arg)	Inborn genetic diseases [RCV002739138]	uncertain significance	14	21431108	21431108	Human	1	name
243063856	CV2405379	duplication	NM_001170629.2(CHD8):c.1752dup (p.Tyr585fs)	Intellectual developmental disorder with autism and macrocephaly [RCV003225901]	likely pathogenic	14	21415871	21415872	Human	1	name
243055248	CV2407355	single nucleotide variant	NM_001170629.2(CHD8):c.899A>C (p.Gln300Pro)	Intellectual developmental disorder with autism and macrocephaly [RCV003144905]	uncertain significance	14	21429280	21429280	Human	1	name
243055249	CV2407356	single nucleotide variant	NM_001170629.2(CHD8):c.637C>T (p.Pro213Ser)	Intellectual developmental disorder with autism and macrocephaly [RCV003144906]	uncertain significance	14	21431007	21431007	Human	1	name
243063350	CV2411691	duplication	NM_001170629.2(CHD8):c.1100dup (p.Pro368fs)	Intellectual developmental disorder with autism and macrocephaly [RCV003141414]	likely pathogenic	14	21429078	21429079	Human	1	name
243050230	CV2415426	single nucleotide variant	NM_001170629.2(CHD8):c.596A>C (p.Lys199Thr)	Intellectual developmental disorder with autism and macrocephaly [RCV003147958]	uncertain significance	14	21431048	21431048	Human	1	name
11560195	CV260052	deletion	NM_001170629.2(CHD8):c.2345del (p.His782fs)	Autism spectrum disorder [RCV001265459]\|not provided [RCV000255911]	pathogenic	14	21409870	21409870	Human	2	name
11642277	CV264530	single nucleotide variant	NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe)	CHD8-related disorder [RCV004547653]\|Inborn genetic diseases [RCV002317796]\|not provided [RCV000876656]\|not specified [RCV000372172]	benign\|likely benign\|conflicting interpretations of pathogenicity	14	21429308	21429308	Human	2	name , alternate_id
329848234	CV2667853	single nucleotide variant	NM_001170629.2(CHD8):c.338C>G (p.Ser113Trp)	not provided [RCV003229420]	uncertain significance	14	21431306	21431306	Human		name
329952565	CV2669970	single nucleotide variant	NM_001170629.2(CHD8):c.620C>G (p.Thr207Ser)	not provided [RCV003233183]	uncertain significance	14	21431024	21431024	Human		name
11642181	CV268980	single nucleotide variant	NM_001170629.2(CHD8):c.341C>T (p.Thr114Met)	Inborn genetic diseases [RCV002317812]\|not provided [RCV000370260]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	21431303	21431303	Human	1	name
401741229	CV2738802	single nucleotide variant	NM_001170629.2(CHD8):c.895C>G (p.Pro299Ala)	not provided [RCV003318196]	uncertain significance	14	21429284	21429284	Human		name
401880688	CV2792936	single nucleotide variant	NM_001170629.2(CHD8):c.372G>C (p.Lys124Asn)	Inborn genetic diseases [RCV003385087]	uncertain significance	14	21431272	21431272	Human	1	name
401915296	CV2810245	single nucleotide variant	NM_001170629.2(CHD8):c.7602G>A (p.Leu2534=)	not provided [RCV003400580]	likely benign	14	21385757	21385757	Human		name
401934153	CV2810248	single nucleotide variant	NM_001170629.2(CHD8):c.5475T>C (p.His1825=)	not provided [RCV003411036]	likely benign	14	21394401	21394401	Human		name
404986483	CV2853586	single nucleotide variant	NM_001170629.2(CHD8):c.949C>T (p.Gln317Ter)	Intellectual developmental disorder with autism and macrocephaly [RCV003535032]	pathogenic	14	21429230	21429230	Human	1	name
405203431	CV2858320	single nucleotide variant	NM_001170629.2(CHD8):c.7329G>A (p.Leu2443=)	not provided [RCV003551640]	likely benign	14	21386030	21386030	Human		name
405202848	CV2861590	single nucleotide variant	NM_001170629.2(CHD8):c.3483C>T (p.Cys1161=)	not provided [RCV003551566]	likely benign	14	21403488	21403488	Human		name
402524341	CV2868283	single nucleotide variant	NM_001170629.2(CHD8):c.4626C>T (p.Ser1542=)	not provided [RCV003547980]	likely benign	14	21400252	21400252	Human		name
405209659	CV2871439	single nucleotide variant	NM_001170629.2(CHD8):c.4101T>C (p.Ser1367=)	not provided [RCV003552410]	likely benign	14	21401475	21401475	Human		name
402499154	CV2871965	single nucleotide variant	NM_001170629.2(CHD8):c.6931C>T (p.Leu2311=)	not provided [RCV003545723]	likely benign	14	21391597	21391597	Human		name
405213215	CV2878819	single nucleotide variant	NM_001170629.2(CHD8):c.3366C>T (p.Asp1122=)	not provided [RCV003552860]	likely benign	14	21403605	21403605	Human		name
405049728	CV2887006	single nucleotide variant	NM_001170629.2(CHD8):c.851C>T (p.Ser284Leu)	not provided [RCV003579701]	uncertain significance	14	21429328	21429328	Human		name
405112443	CV2900479	single nucleotide variant	NM_001170629.2(CHD8):c.4161G>A (p.Leu1387=)	not provided [RCV003558068]	likely benign	14	21401415	21401415	Human		name
402466686	CV2914730	single nucleotide variant	NM_001170629.2(CHD8):c.7296C>T (p.Leu2432=)	not provided [RCV003569431]	likely benign	14	21386063	21386063	Human		name
405202297	CV2918864	single nucleotide variant	NM_001170629.2(CHD8):c.3918T>C (p.Leu1306=)	not provided [RCV003566066]	likely benign	14	21402101	21402101	Human		name
405013770	CV2930269	single nucleotide variant	NM_001170629.2(CHD8):c.5712C>G (p.Pro1904=)	not provided [RCV003576962]	likely benign	14	21394083	21394083	Human		name
405134668	CV2957840	single nucleotide variant	NM_001170629.2(CHD8):c.7536A>G (p.Arg2512=)	not provided [RCV003672644]	likely benign	14	21385823	21385823	Human		name
405212096	CV2974444	single nucleotide variant	NM_001170629.2(CHD8):c.302G>A (p.Ser101Asn)	not provided [RCV003679543]	uncertain significance	14	21431342	21431342	Human		name
402492971	CV2977489	single nucleotide variant	NM_001170629.2(CHD8):c.5715T>G (p.Leu1905=)	not provided [RCV003713958]	likely benign	14	21394080	21394080	Human		name
402515242	CV2993212	single nucleotide variant	NM_001170629.2(CHD8):c.6315G>A (p.Lys2105=)	not provided [RCV003716015]	likely benign	14	21393480	21393480	Human		name
405250148	CV2997276	single nucleotide variant	NM_001170629.2(CHD8):c.4797G>A (p.Val1599=)	not provided [RCV003721542]	uncertain significance	14	21400001	21400001	Human		name
405038407	CV3016959	single nucleotide variant	NM_001170629.2(CHD8):c.4656C>T (p.Ile1552=)	not provided [RCV003696065]	likely benign	14	21400222	21400222	Human		name
405177418	CV3031136	single nucleotide variant	NM_001170629.2(CHD8):c.4414C>A (p.Arg1472=)	not provided [RCV003705219]	likely benign	14	21400569	21400569	Human		name
405198911	CV3041000	single nucleotide variant	NM_001170629.2(CHD8):c.5400G>A (p.Arg1800=)	not provided [RCV003707248]	likely benign	14	21394476	21394476	Human		name
405253392	CV3044446	single nucleotide variant	NM_001170629.2(CHD8):c.836C>T (p.Pro279Leu)	not provided [RCV003722507]	uncertain significance	14	21430808	21430808	Human		name
405088588	CV3044468	single nucleotide variant	NM_001170629.2(CHD8):c.322C>G (p.Pro108Ala)	not provided [RCV003717596]	uncertain significance	14	21431322	21431322	Human		name
405218605	CV3049169	single nucleotide variant	NM_001170629.2(CHD8):c.7335C>T (p.Asn2445=)	not provided [RCV003732980]	likely benign	14	21386024	21386024	Human		name
405176701	CV3049357	single nucleotide variant	NM_001170629.2(CHD8):c.3345T>C (p.Ala1115=)	not provided [RCV003728346]	benign	14	21403626	21403626	Human		name
405245116	CV3054938	single nucleotide variant	NM_001170629.2(CHD8):c.3294A>G (p.Pro1098=)	not provided [RCV003720196]	likely benign	14	21405222	21405222	Human		name
405223144	CV3061186	single nucleotide variant	NM_001170629.2(CHD8):c.4326G>C (p.Gly1442=)	not provided [RCV003733621]	likely benign	14	21400919	21400919	Human		name
405158182	CV3061531	single nucleotide variant	NM_001170629.2(CHD8):c.7662T>C (p.Tyr2554=)	not provided [RCV003726908]	likely benign	14	21385697	21385697	Human		name
405150998	CV3063621	single nucleotide variant	NM_001170629.2(CHD8):c.6084C>T (p.His2028=)	not provided [RCV003726344]	likely benign	14	21393711	21393711	Human		name
405206539	CV3064342	single nucleotide variant	NM_001170629.2(CHD8):c.4605A>G (p.Gly1535=)	not provided [RCV003731381]	benign	14	21400273	21400273	Human		name
405188508	CV3069002	single nucleotide variant	NM_001170629.2(CHD8):c.5370A>G (p.Ala1790=)	not provided [RCV003729426]	likely benign	14	21394932	21394932	Human		name
405192449	CV3069932	single nucleotide variant	NM_001170629.2(CHD8):c.3885C>A (p.Ile1295=)	not provided [RCV003729730]	likely benign	14	21402134	21402134	Human		name
405208417	CV3117169	single nucleotide variant	NM_001170629.2(CHD8):c.7569C>T (p.Thr2523=)	not provided [RCV003822956]	likely benign	14	21385790	21385790	Human		name
405191281	CV3118111	single nucleotide variant	NM_001170629.2(CHD8):c.794C>G (p.Thr265Arg)	not provided [RCV003821021]	uncertain significance	14	21430850	21430850	Human		name
405094659	CV3118985	single nucleotide variant	NM_001170629.2(CHD8):c.5583C>T (p.Pro1861=)	not provided [RCV003811436]	likely benign	14	21394293	21394293	Human		name
404999388	CV3120167	single nucleotide variant	NM_001170629.2(CHD8):c.5892T>C (p.Tyr1964=)	not provided [RCV003827957]	likely benign	14	21393903	21393903	Human		name
404981686	CV3121101	single nucleotide variant	NM_001170629.2(CHD8):c.4365A>G (p.Val1455=)	not provided [RCV003826093]	likely benign	14	21400880	21400880	Human		name
405168430	CV3122322	single nucleotide variant	NM_001170629.2(CHD8):c.4782C>T (p.Asp1594=)	not provided [RCV003818911]	likely benign	14	21400016	21400016	Human		name
405165918	CV3125636	single nucleotide variant	NM_001170629.2(CHD8):c.349T>C (p.Ser117Pro)	not provided [RCV003818719]	uncertain significance	14	21431295	21431295	Human		name
405214066	CV3128286	single nucleotide variant	NM_001170629.2(CHD8):c.7068T>C (p.Tyr2356=)	not provided [RCV003823710]	likely benign	14	21391061	21391061	Human		name
405131834	CV3133494	single nucleotide variant	NM_001170629.2(CHD8):c.6093G>A (p.Val2031=)	not provided [RCV003838464]	likely benign	14	21393702	21393702	Human		name
404986814	CV3135391	single nucleotide variant	NM_001170629.2(CHD8):c.6594A>G (p.Leu2198=)	not provided [RCV003826686]	likely benign	14	21392684	21392684	Human		name
405107762	CV3136297	single nucleotide variant	NM_001170629.2(CHD8):c.628C>A (p.Pro210Thr)	not provided [RCV003835643]	likely benign	14	21431016	21431016	Human		name
405055143	CV3138536	single nucleotide variant	NM_001170629.2(CHD8):c.3939A>G (p.Ala1313=)	not provided [RCV003832380]	likely benign	14	21402080	21402080	Human		name
405217757	CV3139556	single nucleotide variant	NM_001170629.2(CHD8):c.3762G>A (p.Val1254=)	not provided [RCV003824247]	likely benign\|uncertain significance	14	21402456	21402456	Human		name
405208766	CV3145751	single nucleotide variant	NM_001170629.2(CHD8):c.3849A>G (p.Gln1283=)	not provided [RCV003845481]	likely benign	14	21402369	21402369	Human		name
405198821	CV3146834	single nucleotide variant	NM_001170629.2(CHD8):c.517G>A (p.Ala173Thr)	not provided [RCV003844189]	uncertain significance	14	21431127	21431127	Human		name
405183477	CV3147952	single nucleotide variant	NM_001170629.2(CHD8):c.7194T>C (p.Thr2398=)	not provided [RCV003842662]	likely benign	14	21386165	21386165	Human		name
405189482	CV3149566	single nucleotide variant	NM_001170629.2(CHD8):c.4650T>C (p.Asp1550=)	not provided [RCV003843292]	likely benign	14	21400228	21400228	Human		name
405171921	CV3151745	single nucleotide variant	NM_001170629.2(CHD8):c.7267C>A (p.Arg2423=)	not provided [RCV003857896]	likely benign	14	21386092	21386092	Human		name
405231783	CV3157468	single nucleotide variant	NM_001170629.2(CHD8):c.3831G>A (p.Leu1277=)	not provided [RCV003865418]	likely benign	14	21402387	21402387	Human		name
405166774	CV3160608	single nucleotide variant	NM_001170629.2(CHD8):c.7158A>C (p.Thr2386=)	not provided [RCV003857488]	likely benign	14	21390971	21390971	Human		name
405216659	CV3160869	single nucleotide variant	NM_001170629.2(CHD8):c.4239T>C (p.Asp1413=)	not provided [RCV003862931]	likely benign	14	21401006	21401006	Human		name
405196312	CV3168053	single nucleotide variant	NM_001170629.2(CHD8):c.6261C>T (p.Ser2087=)	not provided [RCV003860185]	likely benign	14	21393534	21393534	Human		name
405197152	CV3168231	single nucleotide variant	NM_001170629.2(CHD8):c.3501T>C (p.Asp1167=)	not provided [RCV003860363]	likely benign	14	21403470	21403470	Human		name
405235322	CV3168621	single nucleotide variant	NM_001170629.2(CHD8):c.4629T>C (p.Thr1543=)	not provided [RCV003866095]	likely benign	14	21400249	21400249	Human		name
405214496	CV3169931	single nucleotide variant	NM_001170629.2(CHD8):c.3885C>T (p.Ile1295=)	not provided [RCV003862535]	likely benign	14	21402134	21402134	Human		name
405214397	CV3169932	single nucleotide variant	NM_001170629.2(CHD8):c.3672C>T (p.Cys1224=)	not provided [RCV003862536]	benign	14	21403059	21403059	Human		name
402469468	CV3174761	single nucleotide variant	NM_001170629.2(CHD8):c.6168G>A (p.Arg2056=)	not provided [RCV003873871]	benign	14	21393627	21393627	Human		name
405250371	CV3180614	single nucleotide variant	NM_001170629.2(CHD8):c.5283G>A (p.Lys1761=)	not provided [RCV003869891]	likely benign	14	21395019	21395019	Human		name
405250032	CV3180616	single nucleotide variant	NM_001170629.2(CHD8):c.466G>T (p.Ala156Ser)	not provided [RCV003869893]	uncertain significance	14	21431178	21431178	Human		name
405853456	CV3392788	single nucleotide variant	NM_001170629.2(CHD8):c.7644T>C (p.Asp2548=)	not specified [RCV004526514]	likely benign	14	21385715	21385715	Human		name
405853824	CV3395239	single nucleotide variant	NM_001170629.2(CHD8):c.991C>T (p.Gln331Ter)	Intellectual developmental disorder with autism and macrocephaly [RCV004555381]	pathogenic	14	21429188	21429188	Human	1	name
405873353	CV3398513	single nucleotide variant	NM_001170629.2(CHD8):c.742C>G (p.Leu248Val)	not provided [RCV004576009]	uncertain significance	14	21430902	21430902	Human		name
407450739	CV3422593	single nucleotide variant	NM_001170629.2(CHD8):c.721C>A (p.Pro241Thr)	Inborn genetic diseases [RCV004607788]	uncertain significance	14	21430923	21430923	Human	1	name
407450745	CV3422595	single nucleotide variant	NM_001170629.2(CHD8):c.364G>A (p.Val122Ile)	Inborn genetic diseases [RCV004607790]	uncertain significance	14	21431280	21431280	Human	1	name
408366279	CV3500153	single nucleotide variant	NM_001170629.2(CHD8):c.405C>G (p.Phe135Leu)	not provided [RCV004722196]\|not specified [RCV005407331]	uncertain significance	14	21431239	21431239	Human		name
408373662	CV3502305	single nucleotide variant	NM_001170629.2(CHD8):c.522T>A (p.His174Gln)	not provided [RCV004725892]	uncertain significance	14	21431122	21431122	Human		name
408370004	CV3502967	single nucleotide variant	NM_001170629.2(CHD8):c.377A>G (p.Gln126Arg)	not provided [RCV004724088]	uncertain significance	14	21431267	21431267	Human		name
408369516	CV3512666	single nucleotide variant	NM_001170629.2(CHD8):c.6306G>A (p.Lys2102=)	CHD8-related disorder [RCV004737001]	likely benign	14	21393489	21393489	Human		name , trait , alternate_id
408385836	CV3520376	single nucleotide variant	NM_001170629.2(CHD8):c.610A>G (p.Lys204Glu)	not provided [RCV004760197]	uncertain significance	14	21431034	21431034	Human		name
408393140	CV3528374	single nucleotide variant	NM_001170629.2(CHD8):c.559G>A (p.Ala187Thr)	not provided [RCV004776142]	uncertain significance	14	21431085	21431085	Human		name
596944577	CV3543436	single nucleotide variant	NM_001170629.2(CHD8):c.490G>T (p.Ala164Ser)	not provided [RCV004801557]	uncertain significance	14	21431154	21431154	Human		name
596942220	CV3544021	single nucleotide variant	NM_001170629.2(CHD8):c.7745G>A (p.Ter2582=)	not specified [RCV004800011]	likely benign	14	21385614	21385614	Human		name
597657387	CV3656414	single nucleotide variant	NM_001170629.2(CHD8):c.312G>T (p.Gln104His)	Inborn genetic diseases [RCV004976704]	uncertain significance	14	21431332	21431332	Human	1	name
597664787	CV3732559	single nucleotide variant	NM_001170629.2(CHD8):c.986A>G (p.Asn329Ser)	not provided [RCV005004028]	uncertain significance	14	21429193	21429193	Human		name
597847815	CV3736783	single nucleotide variant	NM_001170629.2(CHD8):c.5202A>G (p.Pro1734=)	not provided [RCV005065942]	likely benign	14	21395100	21395100	Human		name
597871694	CV3737292	single nucleotide variant	NM_001170629.2(CHD8):c.3549T>C (p.Val1183=)	not provided [RCV005068738]	likely benign	14	21403182	21403182	Human		name
597831168	CV3739930	single nucleotide variant	NM_001170629.2(CHD8):c.3792G>A (p.Glu1264=)	not provided [RCV005062628]	likely benign	14	21402426	21402426	Human		name
597970631	CV3750310	single nucleotide variant	NM_001170629.2(CHD8):c.360G>T (p.Leu120Phe)	not provided [RCV005084251]	uncertain significance	14	21431284	21431284	Human		name
597969945	CV3753538	single nucleotide variant	NM_001170629.2(CHD8):c.4728G>A (p.Lys1576=)	not provided [RCV005084023]	uncertain significance	14	21400070	21400070	Human		name
597836189	CV3757641	single nucleotide variant	NM_001170629.2(CHD8):c.632T>G (p.Leu211Arg)	not provided [RCV005085655]	uncertain significance	14	21431012	21431012	Human		name
597947922	CV3759049	single nucleotide variant	NM_001170629.2(CHD8):c.4750C>T (p.Leu1584=)	not provided [RCV005078845]	likely benign	14	21400048	21400048	Human		name
597936337	CV3764828	single nucleotide variant	NM_001170629.2(CHD8):c.7488C>T (p.His2496=)	not provided [RCV005117527]	likely benign	14	21385871	21385871	Human		name
597942158	CV3785955	single nucleotide variant	NM_001170629.2(CHD8):c.6579A>G (p.Pro2193=)	not provided [RCV005133848]	likely benign	14	21392699	21392699	Human		name
597972388	CV3790210	single nucleotide variant	NM_001170629.2(CHD8):c.4080T>G (p.Ser1360=)	not provided [RCV005142633]	likely benign	14	21401496	21401496	Human		name
597972161	CV3794169	single nucleotide variant	NM_001170629.2(CHD8):c.814G>A (p.Ala272Thr)	not provided [RCV005142535]	uncertain significance	14	21430830	21430830	Human		name
597959186	CV3797502	single nucleotide variant	NM_001170629.2(CHD8):c.488A>G (p.Lys163Arg)	not provided [RCV005138189]	uncertain significance	14	21431156	21431156	Human		name
597975346	CV3799083	single nucleotide variant	NM_001170629.2(CHD8):c.709C>T (p.Arg237Cys)	not provided [RCV005144479]	likely benign	14	21430935	21430935	Human		name
597933616	CV3810758	single nucleotide variant	NM_001170629.2(CHD8):c.6066G>C (p.Leu2022=)	not provided [RCV005157467]	likely benign	14	21393729	21393729	Human		name
597928191	CV3816104	single nucleotide variant	NM_001170629.2(CHD8):c.3159G>A (p.Leu1053=)	not provided [RCV005156685]	likely benign	14	21405357	21405357	Human		name
597861992	CV3822589	single nucleotide variant	NM_001170629.2(CHD8):c.4555T>C (p.Leu1519=)	not provided [RCV005175119]	likely benign	14	21400428	21400428	Human		name
597840396	CV3825313	single nucleotide variant	NM_001170629.2(CHD8):c.6657T>C (p.Ser2219=)	not provided [RCV005171996]	likely benign	14	21392621	21392621	Human		name
597898105	CV3826584	single nucleotide variant	NM_001170629.2(CHD8):c.6780A>T (p.Gly2260=)	not provided [RCV005180717]	likely benign	14	21391938	21391938	Human		name
597846266	CV3827945	single nucleotide variant	NM_001170629.2(CHD8):c.7479T>C (p.His2493=)	not provided [RCV005173020]	likely benign	14	21385880	21385880	Human		name
597976241	CV3829261	single nucleotide variant	NM_001170629.2(CHD8):c.7179A>G (p.Lys2393=)	not provided [RCV005169710]	likely benign	14	21390950	21390950	Human		name
597909281	CV3830002	single nucleotide variant	NM_001170629.2(CHD8):c.907C>T (p.Arg303Trp)	not provided [RCV005182571]	likely benign	14	21429272	21429272	Human		name
597931364	CV3837601	single nucleotide variant	NM_001170629.2(CHD8):c.4674C>T (p.Asp1558=)	not provided [RCV005185761]	likely benign	14	21400204	21400204	Human		name
597931147	CV3837662	single nucleotide variant	NM_001170629.2(CHD8):c.7047T>C (p.Val2349=)	not provided [RCV005185822]	likely benign	14	21391481	21391481	Human		name
597953924	CV3844300	single nucleotide variant	NM_001170629.2(CHD8):c.5223G>A (p.Pro1741=)	not provided [RCV005190973]	likely benign	14	21395079	21395079	Human		name
597915960	CV3845707	single nucleotide variant	NM_001170629.2(CHD8):c.5109A>C (p.Pro1703=)	not provided [RCV005183502]	likely benign	14	21395835	21395835	Human		name
597966232	CV3859077	single nucleotide variant	NM_001170629.2(CHD8):c.4452G>A (p.Arg1484=)	not provided [RCV005194472]	likely benign	14	21400531	21400531	Human		name
597875224	CV3859736	single nucleotide variant	NM_001170629.2(CHD8):c.724A>G (p.Ser242Gly)	not provided [RCV005198141]	uncertain significance	14	21430920	21430920	Human		name
597875250	CV3859739	single nucleotide variant	NM_001170629.2(CHD8):c.827C>G (p.Thr276Ser)	not provided [RCV005198144]	uncertain significance	14	21430817	21430817	Human		name
597865554	CV3861234	single nucleotide variant	NM_001170629.2(CHD8):c.6427C>T (p.Leu2143=)	not provided [RCV005196582]	likely benign	14	21393147	21393147	Human		name
597932030	CV3863203	single nucleotide variant	NM_001170629.2(CHD8):c.7126T>C (p.Leu2376=)	not provided [RCV005206729]	likely benign	14	21391003	21391003	Human		name
598224315	CV3892019	microsatellite	NM_001170629.2(CHD8):c.62_65del (p.Thr21fs)	Intellectual developmental disorder with autism and macrocephaly [RCV005253358]	likely pathogenic	14	21431579	21431582	Human		name
616939941	CV4014341	single nucleotide variant	NM_001170629.2(CHD8):c.4275G>A (p.Glu1425=)	not provided [RCV005413835]	likely benign	14	21400970	21400970	Human		name
12899887	CV409078	single nucleotide variant	NM_001170629.2(CHD8):c.622G>A (p.Gly208Ser)	not provided [RCV000481186]	uncertain significance	14	21431022	21431022	Human		name
13521543	CV495571	deletion	NM_001170629.2(CHD8):c.1566del (p.Gly523fs)	not provided [RCV000599539]	pathogenic	14	21427904	21427904	Human		name
13531857	CV512082	single nucleotide variant	NM_001170629.2(CHD8):c.338C>T (p.Ser113Leu)	Complex neurodevelopmental disorder [RCV005357823]\|Inborn genetic diseases [RCV000623698]\|not provided [RCV002263836]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	21431306	21431306	Human	2	name
13794510	CV552171	deletion	NM_001170629.2(CHD8):c.2565del (p.Asn855fs)	Intellectual developmental disorder with autism and macrocephaly [RCV000679950]	pathogenic	14	21408477	21408477	Human	1	name
13830256	CV579857	single nucleotide variant	NM_001170629.2(CHD8):c.6571T>C (p.Leu2191=)	Inborn genetic diseases [RCV002316872]\|not provided [RCV000864315]	benign\|likely benign	14	21392707	21392707	Human	1	name
13829397	CV579859	single nucleotide variant	NM_001170629.2(CHD8):c.6405A>G (p.Gly2135=)	Inborn genetic diseases [RCV002313692]\|not provided [RCV000875404]	likely benign	14	21393169	21393169	Human	1	name
13829529	CV579865	single nucleotide variant	NM_001170629.2(CHD8):c.6312G>A (p.Glu2104=)	Inborn genetic diseases [RCV002315381]\|not provided [RCV000873349]	benign\|likely benign	14	21393483	21393483	Human	1	name
13828750	CV579874	single nucleotide variant	NM_001170629.2(CHD8):c.5121T>C (p.Asp1707=)	Inborn genetic diseases [RCV002316035]\|not provided [RCV000878918]	benign\|likely benign	14	21395823	21395823	Human	1	name
13830284	CV579877	single nucleotide variant	NM_001170629.2(CHD8):c.4935T>C (p.Tyr1645=)	Inborn genetic diseases [RCV002316904]	likely benign	14	21397939	21397939	Human	1	name
13830285	CV579881	single nucleotide variant	NM_001170629.2(CHD8):c.4752A>G (p.Leu1584=)	Inborn genetic diseases [RCV002316906]\|not provided [RCV001546537]	likely benign	14	21400046	21400046	Human	1	name
13830133	CV579884	single nucleotide variant	NM_001170629.2(CHD8):c.3393A>C (p.Ser1131=)	Inborn genetic diseases [RCV002316750]	likely benign	14	21403578	21403578	Human	1	name
13828358	CV579887	single nucleotide variant	NM_001170629.2(CHD8):c.7665T>C (p.Asp2555=)	Inborn genetic diseases [RCV002312371]\|not provided [RCV001655570]	benign	14	21385694	21385694	Human	1	name
13829783	CV579898	single nucleotide variant	NM_001170629.2(CHD8):c.6816G>A (p.Ala2272=)	Inborn genetic diseases [RCV002318086]\|not provided [RCV001662793]	likely benign	14	21391902	21391902	Human	1	name
13828684	CV579900	single nucleotide variant	NM_001170629.2(CHD8):c.6537C>T (p.Ser2179=)	CHD8-related disorder [RCV004547894]\|Inborn genetic diseases [RCV002312786]\|not provided [RCV000871459]	benign	14	21392741	21392741	Human	2	name , alternate_id
13830169	CV579904	single nucleotide variant	NM_001170629.2(CHD8):c.6054T>C (p.Ser2018=)	Inborn genetic diseases [RCV002316784]\|not provided [RCV000871092]	benign\|likely benign	14	21393741	21393741	Human	1	name
13828959	CV579906	single nucleotide variant	NM_001170629.2(CHD8):c.6318A>G (p.Leu2106=)	Inborn genetic diseases [RCV002314377]	likely benign	14	21393477	21393477	Human	1	name
13830020	CV579907	single nucleotide variant	NM_001170629.2(CHD8):c.5607C>T (p.Pro1869=)	Inborn genetic diseases [RCV002318809]\|not provided [RCV001572414]	benign\|likely benign	14	21394188	21394188	Human	1	name
13830330	CV579908	single nucleotide variant	NM_001170629.2(CHD8):c.6207G>A (p.Ser2069=)	Inborn genetic diseases [RCV002317444]\|not provided [RCV000877381]\|not specified [RCV001816788]	benign\|likely benign	14	21393588	21393588	Human	1	name
13829829	CV579914	single nucleotide variant	NM_001170629.2(CHD8):c.5712C>A (p.Pro1904=)	Inborn genetic diseases [RCV002318617]	likely benign	14	21394083	21394083	Human	1	name
13828382	CV579917	single nucleotide variant	NM_001170629.2(CHD8):c.5007A>G (p.Ala1669=)	Inborn genetic diseases [RCV002312392]\|not provided [RCV001598679]	benign	14	21397867	21397867	Human	1	name
13828265	CV579920	single nucleotide variant	NM_001170629.2(CHD8):c.3477G>A (p.Val1159=)	Inborn genetic diseases [RCV002312284]\|not provided [RCV001662783]	benign	14	21403494	21403494	Human	4	name
13828265	CV579920	single nucleotide variant	NM_001170629.2(CHD8):c.3477G>A (p.Val1159=)	Inborn genetic diseases [RCV002312284]\|not provided [RCV001662783]	benign	14	21403494	21403495	Human	4	name
13829986	CV579923	single nucleotide variant	NM_001170629.2(CHD8):c.4896G>A (p.Ser1632=)	Inborn genetic diseases [RCV002318777]\|not provided [RCV002534936]	likely benign	14	21399627	21399627	Human	1	name
13829481	CV579926	single nucleotide variant	NM_001170629.2(CHD8):c.4809G>A (p.Ala1603=)	CHD8-related disorder [RCV004547903]\|Inborn genetic diseases [RCV002315333]\|Intellectual developmental disorder with autism and macrocephaly [RCV002499313]\|not provided [RCV000871298]	benign\|likely benign	14	21399989	21399989	Human	3	name , alternate_id
13829246	CV579927	single nucleotide variant	NM_001170629.2(CHD8):c.3126A>G (p.Ala1042=)	Inborn genetic diseases [RCV002313533]\|not provided [RCV001585672]	likely benign	14	21405390	21405390	Human	1	name
13829835	CV579946	single nucleotide variant	NM_001170629.2(CHD8):c.649A>C (p.Ile217Leu)	Inborn genetic diseases [RCV002318623]	uncertain significance	14	21430995	21430995	Human	1	name
13828730	CV580141	single nucleotide variant	NM_001170629.2(CHD8):c.6402T>C (p.Asp2134=)	Inborn genetic diseases [RCV002316021]\|not provided [RCV002534538]	likely benign	14	21393172	21393172	Human	1	name
13830347	CV580148	single nucleotide variant	NM_001170629.2(CHD8):c.5175A>T (p.Gly1725=)	Inborn genetic diseases [RCV002317462]	likely benign	14	21395305	21395305	Human	1	name
13829118	CV580154	single nucleotide variant	NM_001170629.2(CHD8):c.4344G>A (p.Arg1448=)	Inborn genetic diseases [RCV002314539]	likely benign	14	21400901	21400901	Human	1	name
13830292	CV580166	single nucleotide variant	NM_001170629.2(CHD8):c.992A>G (p.Gln331Arg)	Inborn genetic diseases [RCV002316914]\|not provided [RCV001766584]	likely benign\|uncertain significance	14	21429187	21429187	Human	1	name
13830208	CV580172	single nucleotide variant	NM_001170629.2(CHD8):c.667G>C (p.Val223Leu)	Inborn genetic diseases [RCV002316825]\|not provided [RCV001571780]	likely benign\|conflicting interpretations of pathogenicity	14	21430977	21430977	Human	1	name
13836426	CV587699	single nucleotide variant	NM_001170629.2(CHD8):c.4581C>T (p.Ile1527=)	not provided [RCV000732541]	uncertain significance	14	21400297	21400297	Human		name
15118333	CV693455	single nucleotide variant	NM_001170629.2(CHD8):c.7203G>A (p.Val2401=)	Inborn genetic diseases [RCV002372479]\|not provided [RCV000873670]	benign\|likely benign	14	21386156	21386156	Human	1	name
15142119	CV714057	single nucleotide variant	NM_001170629.2(CHD8):c.5817C>T (p.Arg1939=)	Inborn genetic diseases [RCV002354859]\|not provided [RCV000966426]	likely benign	14	21393978	21393978	Human	1	name
15116818	CV739163	single nucleotide variant	NM_001170629.2(CHD8):c.7338G>A (p.Thr2446=)	not provided [RCV000895268]	likely benign	14	21386021	21386021	Human		name
15134451	CV753969	single nucleotide variant	NM_001170629.2(CHD8):c.5820T>C (p.His1940=)	Inborn genetic diseases [RCV002354764]\|not provided [RCV000920689]	likely benign	14	21393975	21393975	Human	1	name
15104440	CV753970	single nucleotide variant	NM_001170629.2(CHD8):c.5265G>A (p.Ala1755=)	Inborn genetic diseases [RCV002336904]\|not provided [RCV000915352]	likely benign	14	21395037	21395037	Human	1	name
15098402	CV753971	single nucleotide variant	NM_001170629.2(CHD8):c.3966C>T (p.Gly1322=)	not provided [RCV000914239]	likely benign	14	21402053	21402053	Human		name
15196689	CV769717	single nucleotide variant	NM_001170629.2(CHD8):c.6243T>A (p.Ser2081=)	Inborn genetic diseases [RCV002363401]\|not provided [RCV000934291]	benign	14	21393552	21393552	Human	1	name
15193812	CV769718	single nucleotide variant	NM_001170629.2(CHD8):c.5790T>C (p.Asp1930=)	not provided [RCV000933464]	likely benign	14	21394005	21394005	Human		name
21405597	CV799764	single nucleotide variant	NM_001170629.2(CHD8):c.634C>T (p.Arg212Ter)	Intellectual developmental disorder with autism and macrocephaly [RCV001000830]\|not provided [RCV001655663]	pathogenic	14	21431010	21431010	Human	1	name
34895784	CV917179	single nucleotide variant	NM_001170629.2(CHD8):c.416C>G (p.Ser139Cys)	not specified [RCV001192962]	uncertain significance	14	21431228	21431228	Human		name
38461348	CV919515	single nucleotide variant	NM_001170629.2(CHD8):c.410G>A (p.Gly137Asp)	Inborn genetic diseases [RCV004978086]\|Intellectual developmental disorder with autism and macrocephaly [RCV001197546]\|not provided [RCV003770210]	uncertain significance	14	21431234	21431234	Human	2	name
38458849	CV957170	single nucleotide variant	NM_001170629.2(CHD8):c.689G>A (p.Gly230Glu)	not provided [RCV001246431]	likely benign\|uncertain significance	14	21430955	21430955	Human		name
38596422	CV963782	single nucleotide variant	NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter)	Autism [RCV001251717]\|not provided [RCV003229886]	pathogenic	14	21430917	21430917	Human	2	name
38596419	CV963783	single nucleotide variant	NM_001170629.2(CHD8):c.422C>T (p.Thr141Ile)	Intellectual disability [RCV001251714]	likely benign	14	21431222	21431222	Human	2	name
40814458	CV969389	deletion	NM_001170629.2(CHD8):c.2811del (p.Arg938fs)	Intellectual disability [RCV001260681]	pathogenic	14	21406952	21406952	Human	2	name
126909052	CV1053117	duplication	NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs)	CHD8-related disorder [RCV004550095]\|Intellectual developmental disorder with autism and macrocephaly [RCV002251588]\|Neurodevelopmental disorder [RCV001374912]\|not provided [RCV005051899]	pathogenic\|likely pathogenic\|risk factor	14	21391016	21391017	Human	3	name , alternate_id
127268090	CV1063066	single nucleotide variant	NM_001170629.2(CHD8):c.1444C>T (p.Arg482Ter)	not provided [RCV001389144]	pathogenic	14	21428026	21428026	Human		name
127286142	CV1161832	deletion	NM_001170629.2(CHD8):c.5061del (p.Phe1687fs)	Macrocephaly [RCV001526539]	pathogenic	14	21395883	21395883	Human	2	name
150425192	CV1184864	single nucleotide variant	NM_001170629.2(CHD8):c.2908G>A (p.Glu970Lys)	not provided [RCV001557683]	uncertain significance	14	21405864	21405864	Human		name
150429336	CV1188105	single nucleotide variant	NM_001170629.2(CHD8):c.1612C>A (p.Pro538Thr)	not provided [RCV001563466]	uncertain significance	14	21426232	21426232	Human		name
150433159	CV1203580	single nucleotide variant	NM_001170629.2(CHD8):c.1951C>T (p.Arg651Trp)	not provided [RCV001581735]	pathogenic\|likely pathogenic	14	21415591	21415591	Human		name
150463484	CV1206738	deletion	NM_001170629.2(CHD8):c.4800del (p.Gly1602fs)	not provided [RCV001587139]	pathogenic	14	21399998	21399998	Human		name
150451588	CV1207236	single nucleotide variant	NM_001170629.2(CHD8):c.1093C>T (p.Gln365Ter)	CHD8-related disorder [RCV004551941]	likely pathogenic	14	21429086	21429086	Human		name , trait , alternate_id
150533112	CV1294073	single nucleotide variant	NM_001170629.2(CHD8):c.1157C>A (p.Pro386Gln)	not provided [RCV001758091]	uncertain significance	14	21429022	21429022	Human		name
150554120	CV1296507	single nucleotide variant	NM_001170629.2(CHD8):c.2218A>G (p.Asn740Asp)	not provided [RCV001770744]	uncertain significance	14	21412921	21412921	Human		name
150553244	CV1298285	single nucleotide variant	NM_001170629.2(CHD8):c.1102C>G (p.Pro368Ala)	not provided [RCV001768899]	uncertain significance	14	21429077	21429077	Human		name
150550008	CV1300003	single nucleotide variant	NM_001170629.2(CHD8):c.1351A>G (p.Arg451Gly)	Intellectual developmental disorder with autism and macrocephaly [RCV001810311]\|not provided [RCV001765473]	conflicting interpretations of pathogenicity\|uncertain significance	14	21428119	21428119	Human	1	name
150550215	CV1300122	single nucleotide variant	NM_001170629.2(CHD8):c.1594A>C (p.Lys532Gln)	not provided [RCV001765592]	uncertain significance	14	21427876	21427876	Human		name
150556448	CV1303130	single nucleotide variant	NM_001170629.2(CHD8):c.2327A>G (p.Lys776Arg)	not provided [RCV001774323]	uncertain significance	14	21409888	21409888	Human		name
150556541	CV1303238	single nucleotide variant	NM_001170629.2(CHD8):c.2885A>T (p.Asp962Val)	not provided [RCV001774431]	uncertain significance	14	21406878	21406878	Human		name
150547661	CV1303709	single nucleotide variant	NM_001170629.2(CHD8):c.1542G>C (p.Glu514Asp)	not provided [RCV001763812]	uncertain significance	14	21427928	21427928	Human		name
150555536	CV1304678	single nucleotide variant	NM_001170629.2(CHD8):c.1788T>A (p.Asp596Glu)	not provided [RCV001772926]	uncertain significance	14	21415836	21415836	Human		name
150532935	CV1310940	single nucleotide variant	NM_001170629.2(CHD8):c.2993A>G (p.Gln998Arg)	Inborn genetic diseases [RCV005320864]\|Intellectual developmental disorder with autism and macrocephaly [RCV003136145]\|not provided [RCV001776674]	uncertain significance	14	21405779	21405779	Human	2	name
151232556	CV1316836	single nucleotide variant	NM_001170629.2(CHD8):c.1275T>G (p.Ser425Arg)	not provided [RCV001786656]	uncertain significance	14	21428195	21428195	Human		name
151233616	CV1317897	single nucleotide variant	NM_001170629.2(CHD8):c.2855G>A (p.Arg952Gln)	not provided [RCV001787664]	likely pathogenic\|uncertain significance	14	21406908	21406908	Human		name
151350030	CV1324567	single nucleotide variant	NM_001170629.2(CHD8):c.1478G>A (p.Arg493Gln)	Intellectual developmental disorder with autism and macrocephaly [RCV001809012]\|not provided [RCV003718428]	uncertain significance	14	21427992	21427992	Human	1	name
151350035	CV1324569	single nucleotide variant	NM_001170629.2(CHD8):c.2650A>G (p.Met884Val)	Inborn genetic diseases [RCV002458618]\|Intellectual developmental disorder with autism and macrocephaly [RCV001809014]	uncertain significance	14	21408392	21408392	Human	2	name
151851914	CV1346100	single nucleotide variant	NM_001170629.2(CHD8):c.2383G>A (p.Ala795Thr)	not provided [RCV001958110]	uncertain significance	14	21408807	21408807	Human		name
151841893	CV1362991	single nucleotide variant	NM_001170629.2(CHD8):c.1057A>T (p.Ile353Phe)	not provided [RCV002015435]	uncertain significance	14	21429122	21429122	Human		name
151836547	CV1469213	single nucleotide variant	NM_001170629.2(CHD8):c.1093C>G (p.Gln365Glu)	Inborn genetic diseases [RCV002449460]\|Intellectual developmental disorder with autism and macrocephaly [RCV003146256]\|not provided [RCV002051272]	likely benign\|uncertain significance	14	21429086	21429086	Human	2	name
151766048	CV1496061	single nucleotide variant	NM_001170629.2(CHD8):c.2476T>A (p.Trp826Arg)	not provided [RCV001873983]	uncertain significance	14	21408714	21408714	Human		name
152156353	CV1668520	single nucleotide variant	NM_001170629.2(CHD8):c.2867G>A (p.Arg956His)	not provided [RCV002222802]	likely pathogenic	14	21406896	21406896	Human		name
152057592	CV1670610	single nucleotide variant	NM_001170629.2(CHD8):c.1315C>T (p.His439Tyr)	Intellectual developmental disorder with autism and macrocephaly [RCV003146523]\|not provided [RCV002226130]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	21428155	21428155	Human	1	name
152978671	CV1671188	single nucleotide variant	NM_001170629.2(CHD8):c.1931T>C (p.Val644Ala)	Intellectual developmental disorder with autism and macrocephaly [RCV002226862]	likely pathogenic	14	21415611	21415611	Human	1	name
152980363	CV1675916	single nucleotide variant	NM_001170629.2(CHD8):c.2219A>T (p.Asn740Ile)	not provided [RCV002244507]	uncertain significance	14	21412920	21412920	Human		name
152980562	CV1676008	single nucleotide variant	NM_001170629.2(CHD8):c.2368C>T (p.Arg790Cys)	not provided [RCV002244597]	uncertain significance	14	21408822	21408822	Human		name
152982725	CV1677643	deletion	NM_001170629.2(CHD8):c.6002del (p.Pro2001fs)	Intellectual developmental disorder with autism and macrocephaly [RCV002249355]	pathogenic	14	21393793	21393793	Human	1	name
152982158	CV1679149	single nucleotide variant	NM_001170629.2(CHD8):c.2065G>T (p.Glu689Ter)	Intellectual developmental disorder with autism and macrocephaly [RCV002248472]	pathogenic	14	21414378	21414378	Human	1	name
153000195	CV1682910	single nucleotide variant	NM_001170629.2(CHD8):c.1493G>A (p.Gly498Asp)	See cases [RCV002252920]	uncertain significance	14	21427977	21427977	Human		name
153304581	CV1687147	single nucleotide variant	NM_001170629.2(CHD8):c.2726C>G (p.Ser909Ter)	Intellectual developmental disorder with autism and macrocephaly [RCV003989762]\|not provided [RCV002262435]	pathogenic\|likely pathogenic	14	21408316	21408316	Human	1	name
153346498	CV1691778	deletion	NM_001170629.2(CHD8):c.5744del (p.Pro1915fs)	Intellectual developmental disorder with autism and macrocephaly [RCV002273261]	pathogenic	14	21394051	21394051	Human	1	name
155265289	CV1695493	single nucleotide variant	NM_001170629.2(CHD8):c.1550A>C (p.Lys517Thr)	not provided [RCV002280225]	uncertain significance	14	21427920	21427920	Human		name
155264966	CV1704516	single nucleotide variant	NM_001170629.2(CHD8):c.1776G>C (p.Lys592Asn)	not provided [RCV002284732]	uncertain significance	14	21415848	21415848	Human		name
155268705	CV1705532	single nucleotide variant	NM_001170629.2(CHD8):c.1162C>A (p.Gln388Lys)	not provided [RCV002286138]	uncertain significance	14	21429017	21429017	Human		name
155644712	CV1710357	single nucleotide variant	NM_001170629.2(CHD8):c.2687G>A (p.Arg896Lys)	not provided [RCV002293653]	uncertain significance	14	21408355	21408355	Human		name
155713584	CV1760290	single nucleotide variant	NM_001170629.2(CHD8):c.2627G>A (p.Arg876Gln)	not provided [RCV002300796]	uncertain significance	14	21408415	21408415	Human		name
155733251	CV1781079	single nucleotide variant	NM_001170629.2(CHD8):c.2304T>G (p.Asp768Glu)	not provided [RCV002308867]	uncertain significance	14	21409911	21409911	Human		name
155733390	CV1781088	single nucleotide variant	NM_001170629.2(CHD8):c.2614A>G (p.Thr872Ala)	not provided [RCV002308876]	uncertain significance	14	21408428	21408428	Human		name
155722004	CV1781341	single nucleotide variant	NM_001170629.2(CHD8):c.2366A>G (p.Asn789Ser)	not provided [RCV002306417]	uncertain significance	14	21408824	21408824	Human		name
155707828	CV1822258	single nucleotide variant	NM_001170629.2(CHD8):c.1234G>A (p.Ala412Thr)	CHD8-related disorder [RCV004548280]\|Inborn genetic diseases [RCV002378187]\|not provided [RCV003108052]	likely benign\|uncertain significance	14	21428236	21428236	Human	2	name , alternate_id
155738083	CV1831895	single nucleotide variant	NM_001170629.2(CHD8):c.1811T>C (p.Val604Ala)	Inborn genetic diseases [RCV002410193]\|Intellectual developmental disorder with autism and macrocephaly [RCV003146559]	uncertain significance	14	21415813	21415813	Human	2	name
155682155	CV1839756	single nucleotide variant	NM_001170629.2(CHD8):c.1973C>T (p.Pro658Leu)	Inborn genetic diseases [RCV002423532]	likely benign	14	21414989	21414989	Human	1	name
155693937	CV1851545	single nucleotide variant	NM_001170629.2(CHD8):c.2432T>C (p.Leu811Pro)	Inborn genetic diseases [RCV002459898]	uncertain significance	14	21408758	21408758	Human	1	name
155687017	CV1852780	single nucleotide variant	NM_001170629.2(CHD8):c.2812C>T (p.Arg938Cys)	Inborn genetic diseases [RCV002441719]\|not provided [RCV003102744]	conflicting interpretations of pathogenicity\|uncertain significance	14	21406951	21406951	Human	1	name
155800735	CV1863802	single nucleotide variant	NM_001170629.2(CHD8):c.2966G>A (p.Ser989Asn)	not provided [RCV002474225]	uncertain significance	14	21405806	21405806	Human		name
156313753	CV1874670	single nucleotide variant	NM_001170629.2(CHD8):c.2729G>A (p.Arg910Gln)	not provided [RCV003062614]	uncertain significance	14	21408313	21408313	Human		name
156330586	CV1884355	single nucleotide variant	NM_001170629.2(CHD8):c.2369G>A (p.Arg790His)	CHD8-related disorder [RCV004550392]\|not provided [RCV003089769]	uncertain significance	14	21408821	21408821	Human	1	name , alternate_id
156412365	CV1890533	single nucleotide variant	NM_001170629.2(CHD8):c.2401C>G (p.Leu801Val)	not provided [RCV003072863]	uncertain significance	14	21408789	21408789	Human		name
156418713	CV1918662	single nucleotide variant	NM_001170629.2(CHD8):c.1219G>A (p.Gly407Ser)	not provided [RCV002611917]	likely benign\|uncertain significance	14	21428251	21428251	Human		name
156417014	CV1919233	single nucleotide variant	NM_001170629.2(CHD8):c.2652G>A (p.Met884Ile)	not provided [RCV002610483]	uncertain significance	14	21408390	21408390	Human		name
156328729	CV1953203	single nucleotide variant	NM_001170629.2(CHD8):c.2480A>T (p.Tyr827Phe)	not provided [RCV002579874]	uncertain significance	14	21408710	21408710	Human		name
156224066	CV1981482	single nucleotide variant	NM_001170629.2(CHD8):c.1301C>G (p.Ala434Gly)	CHD8-related disorder [RCV004548345]\|Inborn genetic diseases [RCV005321197]\|not provided [RCV002626553]	uncertain significance	14	21428169	21428169	Human	2	name , alternate_id
156353178	CV1994690	single nucleotide variant	NM_001170629.2(CHD8):c.1616T>C (p.Val539Ala)	not provided [RCV002675736]	uncertain significance	14	21426228	21426228	Human		name
156170616	CV2016123	single nucleotide variant	NM_001170629.2(CHD8):c.1186G>C (p.Val396Leu)	not provided [RCV002710473]	uncertain significance	14	21428993	21428993	Human		name
155992523	CV2049821	deletion	NM_001170629.2(CHD8):c.5547del (p.Phe1850fs)	not provided [RCV002819270]	pathogenic	14	21394329	21394329	Human		name
10406030	CV213629	single nucleotide variant	NM_001170629.2(CHD8):c.2317C>T (p.Arg773Ter)	Intellectual developmental disorder with autism and macrocephaly [RCV000200678]	likely pathogenic	14	21409898	21409898	Human	1	name
10405728	CV213630	single nucleotide variant	NM_001170629.2(CHD8):c.1744C>T (p.Arg582Ter)	Intellectual developmental disorder with autism and macrocephaly [RCV000197443]\|not provided [RCV003311713]	pathogenic\|likely pathogenic	14	21415880	21415880	Human	1	name
155987196	CV2137021	single nucleotide variant	NM_001170629.2(CHD8):c.2684G>A (p.Ser895Asn)	Inborn genetic diseases [RCV003005180]\|not provided [RCV002996389]	likely benign\|uncertain significance	14	21408358	21408358	Human	1	name
156220261	CV2168252	single nucleotide variant	NM_001170629.2(CHD8):c.1820C>T (p.Pro607Leu)	not provided [RCV003042693]	uncertain significance	14	21415804	21415804	Human		name
156369944	CV2194138	single nucleotide variant	NM_001170629.2(CHD8):c.2330G>A (p.Arg777Gln)	Inborn genetic diseases [RCV002652663]\|not provided [RCV003561067]	likely benign\|uncertain significance	14	21409885	21409885	Human	1	name
155920777	CV2240420	single nucleotide variant	NM_001170629.2(CHD8):c.1952G>A (p.Arg651Gln)	Inborn genetic diseases [RCV002772973]	uncertain significance	14	21415590	21415590	Human	1	name
156180666	CV2288112	single nucleotide variant	NM_001170629.2(CHD8):c.2455G>A (p.Val819Ile)	Inborn genetic diseases [RCV002873650]	uncertain significance	14	21408735	21408735	Human	1	name
156448814	CV2402233	single nucleotide variant	NM_001170629.2(CHD8):c.1835C>G (p.Pro612Arg)	not provided [RCV003120392]	uncertain significance	14	21415789	21415789	Human		name
243055251	CV2407357	single nucleotide variant	NM_001170629.2(CHD8):c.2263C>T (p.Pro755Ser)	Intellectual developmental disorder with autism and macrocephaly [RCV003144907]	uncertain significance	14	21409952	21409952	Human	1	name
243055254	CV2407359	single nucleotide variant	NM_001170629.2(CHD8):c.1910G>A (p.Ser637Asn)	Intellectual developmental disorder with autism and macrocephaly [RCV003144909]	uncertain significance	14	21415632	21415632	Human	1	name
243055261	CV2407363	single nucleotide variant	NM_001170629.2(CHD8):c.2105A>G (p.Lys702Arg)	Intellectual developmental disorder with autism and macrocephaly [RCV003144913]\|not provided [RCV003575040]	uncertain significance	14	21414338	21414338	Human	1	name
243055262	CV2407364	single nucleotide variant	NM_001170629.2(CHD8):c.1745G>A (p.Arg582Gln)	Intellectual developmental disorder with autism and macrocephaly [RCV003144914]	uncertain significance	14	21415879	21415879	Human	1	name
243053103	CV2418403	single nucleotide variant	NM_001170629.2(CHD8):c.2690A>T (p.Gln897Leu)	not provided [RCV003154135]	uncertain significance	14	21408352	21408352	Human		name
329350217	CV2421612	single nucleotide variant	NM_001170629.2(CHD8):c.1231G>C (p.Gly411Arg)	not provided [RCV003159314]	uncertain significance	14	21428239	21428239	Human		name
329394746	CV2472929	single nucleotide variant	NM_001170629.2(CHD8):c.1338G>T (p.Met446Ile)	not provided [RCV003218912]	uncertain significance	14	21428132	21428132	Human		name
11633450	CV264793	single nucleotide variant	NM_001170629.2(CHD8):c.2992C>T (p.Gln998Ter)	not provided [RCV000338868]	pathogenic	14	21405780	21405780	Human		name
329954826	CV2670758	single nucleotide variant	NM_001170629.2(CHD8):c.2390A>G (p.Lys797Arg)	not provided [RCV003236026]	uncertain significance	14	21408800	21408800	Human		name
11637669	CV268419	single nucleotide variant	NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)	CHD8-related disorder [RCV004547687]\|Inborn genetic diseases [RCV002317809]\|Intellectual developmental disorder with autism and macrocephaly [RCV001330440]\|not provided [RCV000289922]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	21428145	21428145	Human	3	name , alternate_id
11633108	CV269606	duplication	NM_001170629.2(CHD8):c.5266dup (p.Tyr1756fs)	not provided [RCV000313270]	pathogenic	14	21395035	21395036	Human		name
401719702	CV2701243	single nucleotide variant	NM_001170629.2(CHD8):c.1339G>C (p.Glu447Gln)	Inborn genetic diseases [RCV003266967]	uncertain significance	14	21428131	21428131	Human	1	name
401717644	CV2703944	single nucleotide variant	NM_001170629.2(CHD8):c.1691G>C (p.Arg564Pro)	Inborn genetic diseases [RCV003266211]	uncertain significance	14	21426153	21426153	Human	1	name
401722794	CV2737517	deletion	NM_001170629.2(CHD8):c.4001del (p.Leu1334fs)	Intellectual developmental disorder with autism and macrocephaly [RCV003314456]	likely pathogenic	14	21402018	21402018	Human	1	name
401738855	CV2738405	deletion	NM_001170629.2(CHD8):c.7317del (p.Ser2440fs)	not specified [RCV003317797]	uncertain significance	14	21386042	21386042	Human		name
401798612	CV2739394	single nucleotide variant	NM_001170629.2(CHD8):c.2662G>T (p.Val888Leu)	not provided [RCV003319042]	uncertain significance	14	21408380	21408380	Human		name
401796869	CV2739844	single nucleotide variant	NM_001170629.2(CHD8):c.1573T>G (p.Ser525Ala)	not provided [RCV003319805]\|not specified [RCV004526981]	uncertain significance	14	21427897	21427897	Human		name
401796924	CV2739925	single nucleotide variant	NM_001170629.2(CHD8):c.2849C>G (p.Ala950Gly)	not provided [RCV003319886]	uncertain significance	14	21406914	21406914	Human		name
401796452	CV2740638	single nucleotide variant	NM_001170629.2(CHD8):c.2813G>A (p.Arg938His)	not provided [RCV003321308]	uncertain significance	14	21406950	21406950	Human		name
401795889	CV2742857	deletion	NM_001170629.2(CHD8):c.5617del (p.Leu1873fs)	not provided [RCV003325373]	likely pathogenic	14	21394178	21394178	Human		name
401828535	CV2743470	single nucleotide variant	NM_001170629.2(CHD8):c.2435G>A (p.Arg812Gln)	Intellectual developmental disorder with autism and macrocephaly [RCV003326311]	likely pathogenic	14	21408755	21408755	Human	1	name
401872231	CV2749478	single nucleotide variant	NM_001170629.2(CHD8):c.2936C>T (p.Pro979Leu)	not provided [RCV003332606]	uncertain significance	14	21405836	21405836	Human		name
401871816	CV2749592	single nucleotide variant	NM_001170629.2(CHD8):c.2080A>G (p.Ile694Val)	not provided [RCV003332720]	uncertain significance	14	21414363	21414363	Human		name
401860203	CV2751933	duplication	NM_001170629.2(CHD8):c.3832dup (p.Asp1278fs)	Intellectual developmental disorder with autism and macrocephaly [RCV003335815]	likely pathogenic	14	21402385	21402386	Human	1	name
401914005	CV2799173	single nucleotide variant	NM_001170629.2(CHD8):c.1558A>G (p.Lys520Glu)	CHD8-related disorder [RCV004552496]	uncertain significance	14	21427912	21427912	Human		name , trait , alternate_id
401907507	CV2801134	single nucleotide variant	NM_001170629.2(CHD8):c.1889A>G (p.Gln630Arg)	CHD8-related disorder [RCV004550724]	uncertain significance	14	21415735	21415735	Human		name , trait , alternate_id
401931753	CV2801489	single nucleotide variant	NM_001170629.2(CHD8):c.1138C>T (p.Gln380Ter)	CHD8-related disorder [RCV004552441]	pathogenic\|likely pathogenic	14	21429041	21429041	Human		name , trait , alternate_id
401924523	CV2804913	single nucleotide variant	NM_001170629.2(CHD8):c.2611A>G (p.Ile871Val)	not specified [RCV003404731]	uncertain significance	14	21408431	21408431	Human		name
401915303	CV2810247	deletion	NM_001170629.2(CHD8):c.5607del (p.Asp1870fs)	not provided [RCV003400582]	pathogenic	14	21394188	21394188	Human		name
401915310	CV2810251	single nucleotide variant	NM_001170629.2(CHD8):c.1478G>C (p.Arg493Pro)	not provided [RCV003400584]	uncertain significance	14	21427992	21427992	Human		name
401913052	CV2830169	single nucleotide variant	NM_001170629.2(CHD8):c.1636C>T (p.Arg546Cys)	not provided [RCV003441384]	uncertain significance	14	21426208	21426208	Human		name
401943519	CV2840074	deletion	NM_001170629.2(CHD8):c.5365del (p.Ile1789fs)	not provided [RCV003456861]	pathogenic	14	21394937	21394937	Human		name
401963975	CV2844955	single nucleotide variant	NM_001170629.2(CHD8):c.2659A>G (p.Ile887Val)	Intellectual developmental disorder with autism and macrocephaly [RCV003484519]	uncertain significance	14	21408383	21408383	Human	1	name
402516638	CV2865595	single nucleotide variant	NM_001170629.2(CHD8):c.2641T>C (p.Trp881Arg)	not provided [RCV003547384]	uncertain significance	14	21408401	21408401	Human		name
405209691	CV2871449	single nucleotide variant	NM_001170629.2(CHD8):c.1261G>A (p.Val421Ile)	not provided [RCV003552414]	uncertain significance	14	21428209	21428209	Human		name
405195548	CV2925773	single nucleotide variant	NM_001170629.2(CHD8):c.2053A>C (p.Ile685Leu)	not provided [RCV003565247]	uncertain significance	14	21414390	21414390	Human		name
402487372	CV2928528	single nucleotide variant	NM_001170629.2(CHD8):c.2133C>A (p.Phe711Leu)	not provided [RCV003572666]	uncertain significance	14	21414310	21414310	Human		name
402498935	CV2946701	single nucleotide variant	NM_001170629.2(CHD8):c.2309G>A (p.Gly770Asp)	not provided [RCV003661329]	uncertain significance	14	21409906	21409906	Human		name
405244780	CV2968299	single nucleotide variant	NM_001170629.2(CHD8):c.1505G>A (p.Arg502His)	Intellectual developmental disorder with autism and macrocephaly [RCV005392658]\|not provided [RCV003684887]	likely benign\|uncertain significance	14	21427965	21427965	Human	1	name
405216378	CV2978046	single nucleotide variant	NM_001170629.2(CHD8):c.2171T>G (p.Val724Gly)	not provided [RCV003709373]	uncertain significance	14	21412968	21412968	Human		name
402515544	CV2992088	single nucleotide variant	NM_001170629.2(CHD8):c.1183T>C (p.Ser395Pro)	not provided [RCV003689902]	uncertain significance	14	21428996	21428996	Human		name
405138262	CV3029502	deletion	NM_001170629.2(CHD8):c.3119del (p.Asn1040fs)	not provided [RCV003702286]	pathogenic	14	21405397	21405397	Human		name
405080175	CV3050314	single nucleotide variant	NM_001170629.2(CHD8):c.1885A>T (p.Met629Leu)	not provided [RCV003717011]	uncertain significance	14	21415739	21415739	Human		name
405135319	CV3052079	single nucleotide variant	NM_001170629.2(CHD8):c.1691G>A (p.Arg564Gln)	not provided [RCV003725187]	likely benign	14	21426153	21426153	Human		name
405213889	CV3078344	single nucleotide variant	NM_001170629.2(CHD8):c.1166G>A (p.Ser389Asn)	not provided [RCV003732380]	uncertain significance	14	21429013	21429013	Human		name
405040249	CV3081162	single nucleotide variant	NM_001170629.2(CHD8):c.1228C>T (p.Gln410Ter)	Intellectual developmental disorder with autism and macrocephaly [RCV003653173]	pathogenic	14	21428242	21428242	Human	1	name
405032899	CV3130349	single nucleotide variant	NM_001170629.2(CHD8):c.1319C>T (p.Ser440Leu)	not provided [RCV003830756]	uncertain significance	14	21428151	21428151	Human		name
405042668	CV3154057	single nucleotide variant	NM_001170629.2(CHD8):c.1387C>T (p.Arg463Trp)	not provided [RCV003848925]	uncertain significance	14	21428083	21428083	Human		name
405234379	CV3155506	single nucleotide variant	NM_001170629.2(CHD8):c.2836A>G (p.Ile946Val)	not provided [RCV003853484]	uncertain significance	14	21406927	21406927	Human		name
405159687	CV3159896	single nucleotide variant	NM_001170629.2(CHD8):c.1643C>A (p.Thr548Asn)	not provided [RCV003856967]	likely benign	14	21426201	21426201	Human		name
405202707	CV3165008	single nucleotide variant	NM_001170629.2(CHD8):c.1567G>A (p.Gly523Ser)	not provided [RCV003860869]	uncertain significance	14	21427903	21427903	Human		name
402471663	CV3171612	single nucleotide variant	NM_001170629.2(CHD8):c.1459G>A (p.Asp487Asn)	Inborn genetic diseases [RCV005323620]\|not provided [RCV003874396]	likely benign	14	21428011	21428011	Human	1	name
402476628	CV3173836	single nucleotide variant	NM_001170629.2(CHD8):c.1969C>T (p.Leu657Phe)	not provided [RCV003875374]	uncertain significance	14	21414993	21414993	Human		name
404984935	CV3183629	single nucleotide variant	NM_001170629.2(CHD8):c.1090C>T (p.Pro364Ser)	not provided [RCV003880906]	uncertain significance	14	21429089	21429089	Human		name
405259959	CV3186493	single nucleotide variant	NM_001170629.2(CHD8):c.2735G>A (p.Arg912His)	not provided [RCV003884252]	uncertain significance	14	21407028	21407028	Human		name
405718331	CV3227727	single nucleotide variant	NM_001170629.2(CHD8):c.2827C>T (p.Arg943Cys)	Intellectual developmental disorder with autism and macrocephaly [RCV003992068]\|not provided [RCV004780695]	uncertain significance	14	21406936	21406936	Human	1	name
405661140	CV3300772	single nucleotide variant	NM_001170629.2(CHD8):c.1076C>T (p.Ser359Leu)	Inborn genetic diseases [RCV004439075]\|Intellectual developmental disorder with autism and macrocephaly [RCV005419754]	uncertain significance	14	21429103	21429103	Human	2	name
405661144	CV3300773	single nucleotide variant	NM_001170629.2(CHD8):c.1364A>G (p.Gln455Arg)	Inborn genetic diseases [RCV004439076]\|not provided [RCV005104604]	uncertain significance	14	21428106	21428106	Human	1	name
405661147	CV3300774	single nucleotide variant	NM_001170629.2(CHD8):c.1711A>G (p.Ile571Val)	Inborn genetic diseases [RCV004439077]	uncertain significance	14	21426133	21426133	Human	1	name
405661150	CV3300775	single nucleotide variant	NM_001170629.2(CHD8):c.1771A>G (p.Ile591Val)	Inborn genetic diseases [RCV004439078]	uncertain significance	14	21415853	21415853	Human	1	name
405661154	CV3300776	single nucleotide variant	NM_001170629.2(CHD8):c.1972C>G (p.Pro658Ala)	Inborn genetic diseases [RCV004439079]	uncertain significance	14	21414990	21414990	Human	1	name
405661157	CV3300777	single nucleotide variant	NM_001170629.2(CHD8):c.2087A>T (p.Gln696Leu)	Inborn genetic diseases [RCV004439080]	uncertain significance	14	21414356	21414356	Human	1	name
405661160	CV3300778	single nucleotide variant	NM_001170629.2(CHD8):c.2760T>G (p.Phe920Leu)	Inborn genetic diseases [RCV004439081]	uncertain significance	14	21407003	21407003	Human	1	name
407424699	CV3407366	single nucleotide variant	NM_001170629.2(CHD8):c.1658C>A (p.Ser553Ter)	Intellectual developmental disorder with autism and macrocephaly [RCV004584251]	likely pathogenic	14	21426186	21426186	Human	1	name
407495829	CV3496572	single nucleotide variant	NM_001170629.2(CHD8):c.2951T>C (p.Val984Ala)	not provided [RCV004696773]	uncertain significance	14	21405821	21405821	Human		name
408365682	CV3500037	single nucleotide variant	NM_001170629.2(CHD8):c.2624A>T (p.Glu875Val)	not provided [RCV004722080]	uncertain significance	14	21408418	21408418	Human		name
408367240	CV3500188	single nucleotide variant	NM_001170629.2(CHD8):c.2086C>A (p.Gln696Lys)	not provided [RCV004722231]	likely pathogenic	14	21414357	21414357	Human		name
408368976	CV3502708	single nucleotide variant	NM_001170629.2(CHD8):c.1574C>G (p.Ser525Cys)	not provided [RCV004723829]	uncertain significance	14	21427896	21427896	Human		name
408378172	CV3505095	single nucleotide variant	NM_001170629.2(CHD8):c.1996G>T (p.Glu666Ter)	CHD8-related disorder [RCV004727867]	likely pathogenic	14	21414966	21414966	Human		name , trait , alternate_id
408382838	CV3506085	single nucleotide variant	NM_001170629.2(CHD8):c.2813G>T (p.Arg938Leu)	CHD8-related disorder [RCV004730206]	uncertain significance	14	21406950	21406950	Human		name , trait , alternate_id
408369409	CV3510883	single nucleotide variant	NM_001170629.2(CHD8):c.1282G>A (p.Ala428Thr)	CHD8-related disorder [RCV004736905]	uncertain significance	14	21428188	21428188	Human		name , trait , alternate_id
408369639	CV3514445	single nucleotide variant	NM_001170629.2(CHD8):c.1856A>G (p.Gln619Arg)	CHD8-related disorder [RCV004737110]\|not provided [RCV005059871]	uncertain significance	14	21415768	21415768	Human	1	name , alternate_id
408377966	CV3514454	single nucleotide variant	NM_001170629.2(CHD8):c.2161C>G (p.Pro721Ala)	CHD8-related disorder [RCV004737111]\|not provided [RCV004767766]	uncertain significance	14	21412978	21412978	Human	1	name , alternate_id
408369855	CV3515661	single nucleotide variant	NM_001170629.2(CHD8):c.1246C>T (p.Leu416Phe)	CHD8-related disorder [RCV004737654]	uncertain significance	14	21428224	21428224	Human		name , trait , alternate_id
408369885	CV3517982	single nucleotide variant	NM_001170629.2(CHD8):c.1156C>T (p.Pro386Ser)	CHD8-related disorder [RCV004737792]\|not provided [RCV005104901]	uncertain significance	14	21429023	21429023	Human	1	name , alternate_id
408394476	CV3518160	indel	NM_001170629.2(CHD8):c.7066-4_7066-3delinsAA	Intellectual developmental disorder with autism and macrocephaly [RCV004759482]	uncertain significance	14	21391066	21391067	Human		name
408385282	CV3520097	single nucleotide variant	NM_001170629.2(CHD8):c.2689C>A (p.Gln897Lys)	not provided [RCV004759918]	uncertain significance	14	21408353	21408353	Human		name
408392038	CV3523550	single nucleotide variant	NM_001170629.2(CHD8):c.2258C>G (p.Ser753Cys)	not provided [RCV004770924]	uncertain significance	14	21409957	21409957	Human		name
596924838	CV3532443	single nucleotide variant	NM_001170629.2(CHD8):c.1426G>A (p.Gly476Ser)	not provided [RCV004777554]	uncertain significance	14	21428044	21428044	Human		name
596942414	CV3544110	single nucleotide variant	NM_001170629.2(CHD8):c.2576A>G (p.His859Arg)	not specified [RCV004800101]	uncertain significance	14	21408466	21408466	Human		name
12741718	CV361212	single nucleotide variant	NM_001170629.2(CHD8):c.2434C>T (p.Arg812Trp)	Inborn genetic diseases [RCV002524670]\|Intellectual developmental disorder with autism and macrocephaly [RCV000414983]	likely pathogenic\|uncertain significance	14	21408756	21408756	Human	2	name
597657328	CV3656400	single nucleotide variant	NM_001170629.2(CHD8):c.1234G>C (p.Ala412Pro)	Inborn genetic diseases [RCV004976693]\|not provided [RCV005110111]	uncertain significance	14	21428236	21428236	Human	1	name
597657350	CV3656405	single nucleotide variant	NM_001170629.2(CHD8):c.2326A>G (p.Lys776Glu)	Inborn genetic diseases [RCV004976697]\|not provided [RCV005110112]	uncertain significance	14	21409889	21409889	Human	1	name
597657396	CV3656416	single nucleotide variant	NM_001170629.2(CHD8):c.1707C>G (p.Ser569Arg)	Inborn genetic diseases [RCV004976706]	uncertain significance	14	21426137	21426137	Human	1	name
597657400	CV3656417	single nucleotide variant	NM_001170629.2(CHD8):c.2279C>T (p.Thr760Ile)	Inborn genetic diseases [RCV004976707]	likely pathogenic\|uncertain significance	14	21409936	21409936	Human	1	name
597657107	CV3731643	single nucleotide variant	NM_001170629.2(CHD8):c.1643C>G (p.Thr548Ser)	not provided [RCV005001824]	uncertain significance	14	21426201	21426201	Human		name
597971063	CV3750613	single nucleotide variant	NM_001170629.2(CHD8):c.1349G>A (p.Arg450His)	not provided [RCV005084357]	uncertain significance	14	21428121	21428121	Human		name
597844278	CV3752592	single nucleotide variant	NM_001170629.2(CHD8):c.2171T>C (p.Val724Ala)	not provided [RCV005086998]	uncertain significance	14	21412968	21412968	Human		name
12850065	CV375928	single nucleotide variant	NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter)	CHD8-related disorder [RCV004551504]\|not provided [RCV000440969]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	14	21426154	21426154	Human	1	name , alternate_id
597924427	CV3772557	single nucleotide variant	NM_001170629.2(CHD8):c.1184C>T (p.Ser395Leu)	not provided [RCV005115707]	uncertain significance	14	21428995	21428995	Human		name
597877480	CV3776034	duplication	NM_001170629.2(CHD8):c.7322dup (p.Ser2442fs)	not provided [RCV005123561]	uncertain significance	14	21386036	21386037	Human		name
597942551	CV3779943	single nucleotide variant	NM_001170629.2(CHD8):c.2270A>G (p.Glu757Gly)	not provided [RCV005118952]	uncertain significance	14	21409945	21409945	Human		name
597968317	CV3794964	single nucleotide variant	NM_001170629.2(CHD8):c.2312A>G (p.Lys771Arg)	not provided [RCV005140932]	uncertain significance	14	21409903	21409903	Human		name
597928004	CV3816079	single nucleotide variant	NM_001170629.2(CHD8):c.1171G>A (p.Gly391Arg)	not provided [RCV005156660]	uncertain significance	14	21429008	21429008	Human		name
597837470	CV3828815	single nucleotide variant	NM_001170629.2(CHD8):c.1964A>G (p.Lys655Arg)	not provided [RCV005171508]	uncertain significance	14	21415578	21415578	Human		name
597964188	CV3830410	single nucleotide variant	NM_001170629.2(CHD8):c.1840C>G (p.Leu614Val)	not provided [RCV005164550]	uncertain significance	14	21415784	21415784	Human		name
597855734	CV3849598	single nucleotide variant	NM_001170629.2(CHD8):c.1701A>T (p.Glu567Asp)	not provided [RCV005195105]	uncertain significance	14	21426143	21426143	Human		name
597909224	CV3853793	deletion	NM_001170629.2(CHD8):c.5794del (p.Glu1932fs)	not provided [RCV005203276]	pathogenic	14	21394001	21394001	Human		name
597875214	CV3859735	single nucleotide variant	NM_001170629.2(CHD8):c.1631G>A (p.Arg544Lys)	not provided [RCV005198140]	uncertain significance	14	21426213	21426213	Human		name
597916555	CV3861016	duplication	NM_001170629.2(CHD8):c.4321dup (p.Tyr1441fs)	not provided [RCV005204379]	pathogenic	14	21400923	21400924	Human		name
597861261	CV3880851	single nucleotide variant	NM_001170629.2(CHD8):c.2509G>A (p.Glu837Lys)	Intellectual developmental disorder with autism and macrocephaly [RCV005229679]	likely pathogenic	14	21408533	21408533	Human	1	name
598123039	CV3890174	single nucleotide variant	NM_001170629.2(CHD8):c.2182A>G (p.Arg728Gly)	not provided [RCV005250693]	uncertain significance	14	21412957	21412957	Human		name
598214691	CV3890694	single nucleotide variant	NM_001170629.2(CHD8):c.1936A>G (p.Lys646Glu)	Intellectual developmental disorder with autism and macrocephaly [RCV005251558]	uncertain significance	14	21415606	21415606	Human	1	name
598220627	CV3891827	deletion	NM_001170629.2(CHD8):c.3620del (p.Leu1207fs)	Intellectual developmental disorder with autism and macrocephaly [RCV005253165]	likely pathogenic	14	21403111	21403111	Human	1	name
598202315	CV3892851	single nucleotide variant	NM_001170629.2(CHD8):c.2147A>C (p.Glu716Ala)	not provided [RCV005255181]	uncertain significance	14	21412992	21412992	Human		name
598227624	CV3894530	single nucleotide variant	NM_001170629.2(CHD8):c.2165A>G (p.Asp722Gly)	not provided [RCV005257773]	uncertain significance	14	21412974	21412974	Human		name
598158999	CV3897005	single nucleotide variant	NM_001170629.2(CHD8):c.2726C>T (p.Ser909Leu)	not provided [RCV005367979]\|not specified [RCV005407433]	uncertain significance	14	21408316	21408316	Human		name
616935040	CV4009261	single nucleotide variant	NM_001170629.2(CHD8):c.2176G>T (p.Val726Leu)	not provided [RCV005402433]	uncertain significance	14	21412963	21412963	Human		name
616938253	CV4013069	single nucleotide variant	NM_001170629.2(CHD8):c.1474G>A (p.Val492Ile)	not provided [RCV005410536]	uncertain significance	14	21427996	21427996	Human		name
616938138	CV4013404	deletion	NM_001170629.2(CHD8):c.4559del (p.Gln1520fs)	Intellectual developmental disorder with autism and macrocephaly [RCV005410868]	pathogenic	14	21400424	21400424	Human	1	name
616936693	CV4016383	single nucleotide variant	NM_001170629.2(CHD8):c.1244G>T (p.Gly415Val)	not provided [RCV005415249]	uncertain significance	14	21428226	21428226	Human		name
617150398	CV4019023	single nucleotide variant	NM_001170629.2(CHD8):c.2959C>A (p.Leu987Met)	not provided [RCV005423431]	uncertain significance	14	21405813	21405813	Human		name
617154026	CV4022189	single nucleotide variant	NM_001170629.2(CHD8):c.1512G>C (p.Lys504Asn)	not provided [RCV005429545]	uncertain significance	14	21427958	21427958	Human		name
617154245	CV4022622	single nucleotide variant	NM_001170629.2(CHD8):c.1429G>A (p.Glu477Lys)	not provided [RCV005429980]	uncertain significance	14	21428041	21428041	Human		name
12893979	CV409067	deletion	NM_001170629.2(CHD8):c.6947del (p.Pro2316fs)	not provided [RCV000481022]	likely pathogenic	14	21391581	21391581	Human		name
12900215	CV409074	single nucleotide variant	NM_001170629.2(CHD8):c.2764G>A (p.Ala922Thr)	Intellectual developmental disorder with autism and macrocephaly [RCV002470871]\|not provided [RCV000481917]	uncertain significance	14	21406999	21406999	Human	1	name
12900658	CV409075	single nucleotide variant	NM_001170629.2(CHD8):c.2200C>G (p.His734Asp)	not provided [RCV000482885]	uncertain significance	14	21412939	21412939	Human		name
12902336	CV409076	single nucleotide variant	NM_001170629.2(CHD8):c.1559A>G (p.Lys520Arg)	not provided [RCV000486855]	uncertain significance	14	21427911	21427911	Human		name
12902487	CV409077	single nucleotide variant	NM_001170629.2(CHD8):c.1195A>C (p.Lys399Gln)	not provided [RCV000487222]	uncertain significance	14	21428984	21428984	Human		name
12906508	CV415384	single nucleotide variant	NM_001170629.2(CHD8):c.2099G>A (p.Arg700His)	not provided [RCV000489308]	uncertain significance	14	21414344	21414344	Human		name
12913515	CV421975	single nucleotide variant	NM_001170629.2(CHD8):c.2854C>T (p.Arg952Ter)	Autism spectrum disorder [RCV001265458]\|not provided [RCV000493912]	pathogenic	14	21406909	21406909	Human	2	name
13476382	CV445190	single nucleotide variant	NM_001170629.2(CHD8):c.2093T>G (p.Leu698Ter)	not provided [RCV000520135]	pathogenic	14	21414350	21414350	Human		name
13509191	CV482046	single nucleotide variant	NM_001170629.2(CHD8):c.2626C>T (p.Arg876Ter)	not provided [RCV000579159]	pathogenic	14	21408416	21408416	Human		name
8570550	CV48226	duplication	NM_001170629.2(CHD8):c.2240dup (p.Tyr747Ter)	Intellectual developmental disorder with autism and macrocephaly [RCV000032827]	pathogenic\|risk factor	14	21409974	21409975	Human	1	name
13520927	CV495748	duplication	NM_001170629.2(CHD8):c.6876dup (p.Leu2293fs)	not provided [RCV000599035]	pathogenic	14	21391841	21391842	Human		name
13533210	CV512076	duplication	NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs)	Autism spectrum disorder [RCV001265456]\|Inborn genetic diseases [RCV000624555]	pathogenic	14	21394187	21394188	Human	3	name
13531715	CV512080	single nucleotide variant	NM_001170629.2(CHD8):c.1477C>T (p.Arg493Trp)	Inborn genetic diseases [RCV000623567]\|not provided [RCV001756025]	uncertain significance	14	21427993	21427993	Human	1	name
13828295	CV579897	single nucleotide variant	NM_001170629.2(CHD8):c.1848A>T (p.Glu616Asp)	Inborn genetic diseases [RCV002312309]	uncertain significance	14	21415776	21415776	Human	1	name
13828708	CV579899	single nucleotide variant	NM_001170629.2(CHD8):c.1843C>T (p.Pro615Ser)	CHD8-related disorder [RCV004547895]\|Inborn genetic diseases [RCV002312804]\|not provided [RCV000876631]	benign\|likely benign	14	21415781	21415781	Human	2	name , alternate_id
13829085	CV579903	single nucleotide variant	NM_001170629.2(CHD8):c.1822A>G (p.Ile608Val)	Inborn genetic diseases [RCV002314506]\|not provided [RCV000870896]	benign\|likely benign	14	21415802	21415802	Human	1	name
13829300	CV579910	single nucleotide variant	NM_001170629.2(CHD8):c.1573T>C (p.Ser525Pro)	Inborn genetic diseases [RCV002313592]\|not provided [RCV001707851]	benign\|likely benign	14	21427897	21427897	Human	1	name
13830847	CV579928	duplication	NM_001170629.2(CHD8):c.3322dup (p.Ile1108fs)	Inborn genetic diseases [RCV002317443]\|not provided [RCV003442057]	pathogenic	14	21403648	21403649	Human	1	name
13829653	CV579933	single nucleotide variant	NM_001170629.2(CHD8):c.1829C>G (p.Pro610Arg)	Inborn genetic diseases [RCV002317963]	uncertain significance	14	21415795	21415795	Human	1	name
13829776	CV579936	single nucleotide variant	NM_001170629.2(CHD8):c.1562C>T (p.Thr521Ile)	Inborn genetic diseases [RCV002318077]\|not provided [RCV002534585]	uncertain significance	14	21427908	21427908	Human	1	name
13829769	CV579943	single nucleotide variant	NM_001170629.2(CHD8):c.1343A>G (p.Glu448Gly)	Inborn genetic diseases [RCV002318070]	uncertain significance	14	21428127	21428127	Human	1	name
13829876	CV580163	single nucleotide variant	NM_001170629.2(CHD8):c.2362G>A (p.Val788Met)	CHD8-related disorder [RCV004547905]\|Inborn genetic diseases [RCV002318671]\|not provided [RCV000872873]	benign\|likely benign	14	21409853	21409853	Human	2	name , alternate_id
14978218	CV677373	deletion	NM_001170629.2(CHD8):c.3338del (p.Arg1113fs)	Marfanoid habitus and intellectual disability [RCV000850415]	likely pathogenic	14	21403633	21403633	Human	1	name
15181159	CV769719	single nucleotide variant	NM_001170629.2(CHD8):c.2318G>A (p.Arg773Gln)	Inborn genetic diseases [RCV002445050]\|not provided [RCV000930058]	benign\|likely benign	14	21409897	21409897	Human	1	name
21074426	CV796990	single nucleotide variant	NM_001170629.2(CHD8):c.2845G>T (p.Glu949Ter)	not provided [RCV000995116]	likely pathogenic	14	21406918	21406918	Human		name
25320654	CV805781	deletion	NM_001170629.2(CHD8):c.3623del (p.Cys1208fs)	not provided [RCV001009245]	pathogenic	14	21403108	21403108	Human		name
28876312	CV858734	single nucleotide variant	NM_001170629.2(CHD8):c.1732C>T (p.Arg578Cys)	Overgrowth [RCV001090133]\|not provided [RCV003229877]	likely pathogenic\|uncertain significance	14	21415892	21415892	Human	3	name
28885774	CV860089	single nucleotide variant	NM_001170629.2(CHD8):c.2795C>G (p.Ser932Ter)	not provided [RCV001091754]	pathogenic	14	21406968	21406968	Human		name
34890479	CV904309	deletion	NM_001170629.2(CHD8):c.4115del (p.Asn1372fs)	not provided [RCV001171601]	pathogenic	14	21401461	21401461	Human		name
38462587	CV919513	single nucleotide variant	NM_001170629.2(CHD8):c.1880C>G (p.Pro627Arg)	Intellectual developmental disorder with autism and macrocephaly [RCV001198543]	uncertain significance	14	21415744	21415744	Human	1	name
38460289	CV919514	single nucleotide variant	NM_001170629.2(CHD8):c.1030G>A (p.Val344Met)	Intellectual developmental disorder with autism and macrocephaly [RCV001196462]\|not provided [RCV002560222]	conflicting interpretations of pathogenicity\|uncertain significance	14	21429149	21429149	Human	1	name
38479050	CV948476	single nucleotide variant	NM_001170629.2(CHD8):c.1802A>T (p.Glu601Val)	not provided [RCV001234152]	uncertain significance	14	21415822	21415822	Human		name
39456273	CV966523	deletion	NM_001170629.2(CHD8):c.5736del (p.Leu1912fs)	Rare genetic intellectual disability [RCV001257002]	likely pathogenic	14	21394059	21394059	Human		name
40813916	CV969708	duplication	NM_001170629.2(CHD8):c.4574dup (p.Ser1526fs)	Intellectual developmental disorder with autism and macrocephaly [RCV001261165]	likely pathogenic	14	21400303	21400304	Human	1	name
40886634	CV973914	single nucleotide variant	NM_001170629.2(CHD8):c.1727C>A (p.Ser576Ter)	Inborn genetic diseases [RCV001265819]	pathogenic	14	21415897	21415897	Human	1	name
40889902	CV975383	deletion	NM_001170629.2(CHD8):c.3638del (p.Gly1213fs)	not provided [RCV001268413]	pathogenic	14	21403093	21403093	Human		name
40889519	CV975385	single nucleotide variant	NM_001170629.2(CHD8):c.1540G>T (p.Glu514Ter)	not provided [RCV001268016]	pathogenic	14	21427930	21427930	Human		name
40889831	CV975386	single nucleotide variant	NM_001170629.2(CHD8):c.1351A>T (p.Arg451Ter)	not provided [RCV001268313]	pathogenic	14	21428119	21428119	Human		name
597934099	CV3750396	single nucleotide variant	NM_001170629.2(CHD8):c.5410A>G (p.Thr1804Ala)	not provided [RCV005076321]	likely benign	14	21394466	21394466	Human		name
597928099	CV3837017	single nucleotide variant	NM_001170629.2(CHD8):c.7085A>G (p.Lys2362Arg)	not provided [RCV005185368]	likely benign	14	21391044	21391044	Human		name
598264360	CV3940913	single nucleotide variant	NM_001170629.2(CHD8):c.7312A>G (p.Thr2438Ala)	Inborn genetic diseases [RCV005326113]	uncertain significance	14	21386047	21386047	Human	1	name
616934986	CV4009213	single nucleotide variant	NM_001170629.2(CHD8):c.3515G>A (p.Arg1172Lys)	not provided [RCV005402385]	uncertain significance	14	21403456	21403456	Human		name
616937788	CV4013014	single nucleotide variant	NM_001170629.2(CHD8):c.4012A>G (p.Thr1338Ala)	not provided [RCV005410480]	uncertain significance	14	21402007	21402007	Human		name
616937809	CV4013186	single nucleotide variant	NM_001170629.2(CHD8):c.7534A>T (p.Arg2512Ter)	not provided [RCV005410653]	uncertain significance	14	21385825	21385825	Human		name
616938046	CV4013351	single nucleotide variant	NM_001170629.2(CHD8):c.5255T>C (p.Leu1752Pro)	not provided [RCV005410818]	uncertain significance	14	21395047	21395047	Human		name
616939224	CV4015554	single nucleotide variant	NM_001170629.2(CHD8):c.7681T>A (p.Phe2561Ile)	not provided [RCV005413066]	uncertain significance	14	21385678	21385678	Human		name
616939326	CV4015657	single nucleotide variant	NM_001170629.2(CHD8):c.3282C>G (p.Cys1094Trp)	not provided [RCV005413169]	uncertain significance	14	21405234	21405234	Human		name
616935402	CV4015987	single nucleotide variant	NM_001170629.2(CHD8):c.6079G>A (p.Glu2027Lys)	not provided [RCV005414851]	uncertain significance	14	21393716	21393716	Human		name
616935451	CV4016055	single nucleotide variant	NM_001170629.2(CHD8):c.7603C>T (p.Gln2535Ter)	not provided [RCV005414920]	uncertain significance	14	21385756	21385756	Human		name
617150489	CV4017630	single nucleotide variant	NM_001170629.2(CHD8):c.4130G>C (p.Trp1377Ser)	not provided [RCV005417288]	uncertain significance	14	21401446	21401446	Human		name
617151158	CV4017774	single nucleotide variant	NM_001170629.2(CHD8):c.5217G>C (p.Trp1739Cys)	Intellectual developmental disorder with autism and macrocephaly [RCV005417559]	uncertain significance	14	21395085	21395085	Human	1	name
617150470	CV4018979	single nucleotide variant	NM_001170629.2(CHD8):c.4702A>C (p.Lys1568Gln)	not provided [RCV005423387]	uncertain significance	14	21400176	21400176	Human		name
617154273	CV4022699	single nucleotide variant	NM_001170629.2(CHD8):c.5851C>T (p.Gln1951Ter)	not provided [RCV005430057]	pathogenic	14	21393944	21393944	Human		name
8570552	CV48228	single nucleotide variant	NM_001170629.2(CHD8):c.3712C>T (p.Gln1238Ter)	Intellectual developmental disorder with autism and macrocephaly [RCV000032829]	pathogenic\|risk factor	14	21403019	21403019	Human	1	name
8570553	CV48229	single nucleotide variant	NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter)	Intellectual developmental disorder with autism and macrocephaly [RCV000032830]\|not provided [RCV004700297]	pathogenic\|risk factor	14	21402010	21402010	Human	1	name
126744450	CV1017785	single nucleotide variant	NM_001170629.2(CHD8):c.4984C>T (p.Arg1662Ter)	CHD8-related disorder [RCV004548175]\|Inborn genetic diseases [RCV003169547]\|Intellectual developmental disorder with autism and macrocephaly [RCV001330443]\|not provided [RCV003324826]	pathogenic	14	21397890	21397890	Human	3	alternate_id
150410722	CV1196114	single nucleotide variant	NM_001170629.2(CHD8):c.7499A>C (p.His2500Pro)	CHD8-related disorder [RCV004551924]\|not provided [RCV001573271]	benign\|likely benign	14	21385860	21385860	Human	1	alternate_id
150490635	CV1210232	single nucleotide variant	NM_001170629.2(CHD8):c.4204C>T (p.Arg1402Ter)	CHD8-related disorder [RCV004551947]\|Intellectual developmental disorder with autism and macrocephaly [RCV002290730]\|not provided [RCV001592514]	pathogenic\|likely pathogenic	14	21401041	21401041	Human	2	alternate_id
155709402	CV1785440	single nucleotide variant	NM_001170629.2(CHD8):c.3229G>A (p.Gly1077Ser)	CHD8-related disorder [RCV004548274]\|Inborn genetic diseases [RCV002324713]\|not provided [RCV003775570]	likely benign\|uncertain significance	14	21405287	21405287	Human	2	alternate_id
10051726	CV193831	single nucleotide variant	NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys)	CHD8-related disorder [RCV004552994]\|Inborn genetic diseases [RCV002317037]\|not provided [RCV000177525]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	21393710	21393710	Human	2	alternate_id
10051727	CV193832	single nucleotide variant	NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly)	CHD8-related disorder [RCV004552995]\|Inborn genetic diseases [RCV002312725]\|Intellectual developmental disorder with autism and macrocephaly [RCV002492775]\|not provided [RCV000871732]\|not specified [RCV000177526]	benign\|likely benign	14	21393676	21393676	Human	3	alternate_id
156371246	CV2048867	single nucleotide variant	NM_001170629.2(CHD8):c.7001G>A (p.Arg2334Gln)	CHD8-related disorder [RCV004738614]\|not provided [RCV002814296]	likely benign\|uncertain significance	14	21391527	21391527	Human	1	alternate_id
11639849	CV273614	single nucleotide variant	NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His)	CHD8-related disorder [RCV004549613]\|Inborn genetic diseases [RCV004021277]\|Intellectual developmental disorder with autism and macrocephaly [RCV000765146]\|not provided [RCV000328038]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	21394474	21394474	Human	3	alternate_id
401934614	CV2796134	single nucleotide variant	NM_001170629.2(CHD8):c.5491A>G (p.Thr1831Ala)	CHD8-related disorder [RCV004548665]\|Inborn genetic diseases [RCV005323421]\|not provided [RCV003720885]	likely benign\|uncertain significance	14	21394385	21394385	Human	2	alternate_id
401905378	CV2796222	single nucleotide variant	NM_001170629.2(CHD8):c.5993C>G (p.Pro1998Arg)	CHD8-related disorder [RCV004548675]\|Inborn genetic diseases [RCV005323422]	uncertain significance	14	21393802	21393802	Human	2	alternate_id
401922921	CV2796586	single nucleotide variant	NM_001170629.2(CHD8):c.7096C>T (p.Gln2366Ter)	CHD8-related disorder [RCV004550665]	likely pathogenic	14	21391033	21391033	Human		trait , alternate_id
401922929	CV2796627	single nucleotide variant	NM_001170629.2(CHD8):c.6269G>A (p.Ser2090Asn)	CHD8-related disorder [RCV004550667]	uncertain significance	14	21393526	21393526	Human		trait , alternate_id
401933766	CV2799776	single nucleotide variant	NM_001170629.2(CHD8):c.7661A>T (p.Tyr2554Phe)	CHD8-related disorder [RCV004552616]\|not provided [RCV003738459]	uncertain significance	14	21385698	21385698	Human	1	alternate_id
401905089	CV2800372	single nucleotide variant	NM_001170629.2(CHD8):c.3185G>A (p.Arg1062Gln)	CHD8-related disorder [RCV004548643]	uncertain significance	14	21405331	21405331	Human		trait , alternate_id
401921092	CV2801997	single nucleotide variant	NM_001170629.2(CHD8):c.5179G>T (p.Glu1727Ter)	CHD8-related disorder [RCV004552559]	pathogenic	14	21395301	21395301	Human		trait , alternate_id
401916473	CV2804660	single nucleotide variant	NM_001170629.2(CHD8):c.3792G>C (p.Glu1264Asp)	CHD8-related disorder [RCV004554118]	uncertain significance	14	21402426	21402426	Human		trait , alternate_id
401905998	CV2804863	single nucleotide variant	NM_001170629.2(CHD8):c.6010C>T (p.Pro2004Ser)	CHD8-related disorder [RCV004554129]\|not provided [RCV003669415]	uncertain significance	14	21393785	21393785	Human	1	alternate_id
405069451	CV2944756	single nucleotide variant	NM_001170629.2(CHD8):c.4373G>A (p.Trp1458Ter)	CHD8-related disorder [RCV004554271]\|not provided [RCV003663893]	pathogenic\|likely pathogenic	14	21400610	21400610	Human	1	alternate_id
12894376	CV409070	single nucleotide variant	NM_001170629.2(CHD8):c.4414C>T (p.Arg1472Ter)	CHD8-related disorder [RCV004551584]\|Inborn genetic diseases [RCV002526547]\|not provided [RCV000482586]	pathogenic	14	21400569	21400569	Human	2	alternate_id
12894911	CV409073	single nucleotide variant	NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val)	Autism spectrum disorder [RCV001265457]\|CHD8-related disorder [RCV004551589]\|Intellectual developmental disorder with autism and macrocephaly [RCV000709955]\|not provided [RCV000484621]	likely pathogenic\|not provided	14	21403663	21403663	Human	4	alternate_id
13516661	CV488369	single nucleotide variant	NM_001170629.2(CHD8):c.6650G>A (p.Arg2217Gln)	CHD8-related disorder [RCV004553308]\|Inborn genetic diseases [RCV002315884]\|not provided [RCV000870946]\|not specified [RCV000595810]	benign	14	21392628	21392628	Human	2	alternate_id
13517766	CV489124	single nucleotide variant	NM_001170629.2(CHD8):c.6473G>A (p.Arg2158His)	CHD8-related disorder [RCV004553311]\|Inborn genetic diseases [RCV002368000]\|not provided [RCV000596784]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	21392805	21392805	Human	2	alternate_id
13830328	CV579909	single nucleotide variant	NM_001170629.2(CHD8):c.5195A>G (p.Gln1732Arg)	CHD8-related disorder [RCV004547909]\|Inborn genetic diseases [RCV002317441]\|not provided [RCV000872935]	benign\|likely benign\|uncertain significance	14	21395107	21395107	Human	2	alternate_id
13833199	CV584428	single nucleotide variant	NM_001170629.2(CHD8):c.4304A>T (p.His1435Leu)	CHD8-related disorder [RCV004547919]\|Inborn genetic diseases [RCV002332527]\|not provided [RCV000728383]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	21400941	21400941	Human	2	alternate_id
14396812	CV612981	microsatellite	NM_001170629.2(CHD8):c.1791AGA[3] (p.Glu601del)	CHD8-related disorder [RCV004737999]\|Inborn genetic diseases [RCV002406686]\|not provided [RCV000761866]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	21415822	21415824	Human		alternate_id
38596417	CV963781	single nucleotide variant	NM_001170629.2(CHD8):c.7297A>G (p.Met2433Val)	CHD8-related disorder [RCV004548105]\|Intellectual disability [RCV001251712]\|not provided [RCV001838467]	likely benign	14	21386062	21386062	Human	3	alternate_id
155803657	CV1858221	indel	NM_001170629.2(CHD8):c.1599_1601+6delinsGAAGTGAGG	not provided [RCV002462530]	uncertain significance	14	21427863	21427871	Human		name
329350250	CV2421619	indel	NM_001170629.2(CHD8):c.2731-24_2731-7delinsCTAAGCATGAAG	not provided [RCV003159321]	uncertain significance	14	21407039	21407056	Human		name
156232501	CV2075071	insertion	NM_001170629.2(CHD8):c.4570+17_4570+18insTATCAACTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGC	not provided [RCV002830104]	uncertain significance	14	21400395	21400396	Human		name

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