Hecw2 Variant Search Result - Rat Genome Database

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449 records found for search term Hecw2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
15192452	CV743797	single nucleotide variant	NM_020760.4(HECW2):c.495+8C>T	not provided [RCV000910545]	likely benign	2	196334416	196334416	Human		name
150436528	CV1275174	single nucleotide variant	NM_001348768.2(HECW2):c.*37G>T	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001702344]\|not provided [RCV004710339]	benign	2	196201240	196201240	Human	1	name
15175934	CV730040	single nucleotide variant	NM_020760.4(HECW2):c.2434+8C>G	not provided [RCV000884477]	likely benign	2	196317266	196317266	Human		name
15188706	CV743779	single nucleotide variant	NM_020760.4(HECW2):c.3419+5A>G	not provided [RCV000909445]	likely benign	2	196257818	196257818	Human		name
15150752	CV743783	single nucleotide variant	NM_020760.4(HECW2):c.3238+9T>C	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV002502658]\|not provided [RCV000901220]	benign\|likely benign	2	196274012	196274012	Human	1	name
15179383	CV743784	single nucleotide variant	NM_020760.4(HECW2):c.2338+8A>G	not provided [RCV000907096]	benign	2	196318544	196318544	Human		name
15151203	CV758932	single nucleotide variant	NM_020760.4(HECW2):c.3000+7C>T	HECW2-related disorder [RCV003895617]\|not provided [RCV000923626]	benign\|likely benign	2	196292558	196292558	Human	1	name , trait , alternate_id
15172398	CV774566	single nucleotide variant	NM_020760.4(HECW2):c.4146+3G>A	not provided [RCV000928106]	likely benign	2	196222208	196222208	Human		name
15158469	CV759005	single nucleotide variant	NM_020760.4(HECW2):c.2814+10G>A	not provided [RCV000925077]	likely benign	2	196306478	196306478	Human		name
13827658	CV578396	single nucleotide variant	NM_001348768.2(HECW2):c.-35-1G>A	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV000714852]	uncertain significance	2	196433459	196433459	Human	1	name
8576909	CV111278	single nucleotide variant	NM_020760.2(HECW2):c.292+16358A>G	Lung cancer [RCV000091801]	uncertain significance	2	196416774	196416774	Human		name
150436031	CV1253641	single nucleotide variant	NM_001348768.2(HECW2):c.400+15G>A	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001702231]\|not provided [RCV001667569]	benign	2	196343642	196343642	Human	1	name
150438804	CV1270867	single nucleotide variant	NM_001348768.2(HECW2):c.2435-7C>T	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001703163]\|not provided [RCV001689417]	benign	2	196308092	196308092	Human	1	name
152999860	CV1683407	single nucleotide variant	NM_001348768.2(HECW2):c.3000+8G>A	See cases [RCV002252591]	uncertain significance	2	196292557	196292557	Human		name
401876090	CV2750204	single nucleotide variant	NM_001348768.2(HECW2):c.4016+1G>A	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003333652]	uncertain significance	2	196225771	196225771	Human	1	name
407428153	CV3410095	single nucleotide variant	NM_001348768.2(HECW2):c.3419+8C>A	not specified [RCV004587703]	uncertain significance	2	196257815	196257815	Human		name
407521206	CV3440456	single nucleotide variant	NM_001348768.2(HECW2):c.4408+6A>G	Inborn genetic diseases [RCV004630290]	uncertain significance	2	196220033	196220033	Human	1	name
408392427	CV3526515	single nucleotide variant	NM_001348768.2(HECW2):c.2689+1G>T	not provided [RCV004775764]	uncertain significance	2	196307129	196307129	Human		name
596924788	CV3536747	single nucleotide variant	NM_001348768.2(HECW2):c.4017-2A>G	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV004785740]	uncertain significance	2	196222342	196222342	Human	1	name
598122358	CV3884353	single nucleotide variant	NM_001348768.2(HECW2):c.2814+9C>T	not specified [RCV005237044]	likely benign	2	196306479	196306479	Human		name
598122488	CV3884423	single nucleotide variant	NM_001348768.2(HECW2):c.2585+7A>G	not specified [RCV005237115]	uncertain significance	2	196307928	196307928	Human		name
38596855	CV964018	single nucleotide variant	NM_001348768.2(HECW2):c.2434+6G>A	HECW2-related disorder [RCV003908474]\|Intellectual disability [RCV001252512]\|not provided [RCV003438735]	likely benign	2	196317268	196317268	Human	3	name , trait , alternate_id
150492775	CV1275176	single nucleotide variant	NM_001348768.2(HECW2):c.2814+37G>A	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001702052]\|not provided [RCV004709126]	benign	2	196306451	196306451	Human	1	name
150436541	CV1275177	single nucleotide variant	NM_001348768.2(HECW2):c.2814+29G>A	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001702346]\|not provided [RCV004709127]	benign	2	196306459	196306459	Human	1	name
407573179	CV3498980	single nucleotide variant	NM_001348768.2(HECW2):c.2690-19T>C	not specified [RCV004699949]	likely benign	2	196306631	196306631	Human		name
153301195	CV1689043	single nucleotide variant	NM_001348768.2(HECW2):c.-35-72257T>G	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV002266771]	uncertain significance	2	196505715	196505715	Human	1	name
15201421	CV758969	deletion	NM_020760.4(HECW2):c.3650+9_3650+10del	HECW2-related disorder [RCV003950777]\|not provided [RCV000913134]	benign	2	196242074	196242075	Human	1	name , trait , alternate_id
150554958	CV1309948	single nucleotide variant	NM_001348768.2(HECW2):c.51C>T (p.Pro17=)	not provided [RCV003237687]	uncertain significance	2	196433373	196433373	Human		name
15190141	CV706459	single nucleotide variant	NM_001348768.2(HECW2):c.207G>A (p.Thr69=)	HECW2-related disorder [RCV003915840]\|not provided [RCV000954387]	benign\|likely benign	2	196433217	196433217	Human	1	name , trait , alternate_id
15151184	CV729857	single nucleotide variant	NM_001348768.2(HECW2):c.168G>A (p.Glu56=)	not provided [RCV000879542]	benign	2	196433256	196433256	Human		name
15199355	CV758763	single nucleotide variant	NM_001348768.2(HECW2):c.189C>T (p.Ala63=)	HECW2-related disorder [RCV003958336]\|not provided [RCV000912523]	benign\|likely benign	2	196433235	196433235	Human	1	name , trait , alternate_id
15137208	CV758764	single nucleotide variant	NM_001348768.2(HECW2):c.216A>G (p.Gln72=)	not provided [RCV000921133]	benign	2	196433208	196433208	Human		name
15196765	CV758765	single nucleotide variant	NM_001348768.2(HECW2):c.276T>C (p.Ile92=)	not provided [RCV000911788]	likely benign	2	196433148	196433148	Human		name
8630122	CV85269	single nucleotide variant	NM_020760.2(HECW2):c.4104C>T (p.Ile1368=)	Malignant melanoma [RCV000065351]	not provided	2	196222253	196222253	Human		name
155798357	CV1861963	single nucleotide variant	NM_001348768.2(HECW2):c.82C>T (p.Leu28Phe)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV002471366]	likely benign	2	196433342	196433342	Human	1	name
401917413	CV2819466	single nucleotide variant	NM_001348768.2(HECW2):c.576T>G (p.Leu192=)	not provided [RCV003429486]	likely benign	2	196325145	196325145	Human		name
401917418	CV2819468	single nucleotide variant	NM_001348768.2(HECW2):c.40C>T (p.Arg14Cys)	not provided [RCV003429488]	uncertain significance	2	196433384	196433384	Human		name
405276722	CV3198541	single nucleotide variant	NM_001348768.2(HECW2):c.384G>A (p.Gly128=)	HECW2-related disorder [RCV003903871]	benign	2	196343673	196343673	Human		name , trait , alternate_id
408386740	CV3518519	single nucleotide variant	NM_001348768.2(HECW2):c.43C>T (p.Arg15Ter)	not provided [RCV004760837]	uncertain significance	2	196433381	196433381	Human		name
596945216	CV3547740	single nucleotide variant	NM_001348768.2(HECW2):c.699T>C (p.Ser233=)	not provided [RCV004809071]	likely benign	2	196325022	196325022	Human		name
596947611	CV3549170	single nucleotide variant	NM_001348768.2(HECW2):c.447C>T (p.Ala149=)	not provided [RCV004811494]	likely benign	2	196334472	196334472	Human		name
596946113	CV3550398	single nucleotide variant	NM_001348768.2(HECW2):c.41G>A (p.Arg14His)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV004818939]	uncertain significance	2	196433383	196433383	Human	1	name
597663545	CV3689101	single nucleotide variant	NM_001348768.2(HECW2):c.885T>C (p.Gly295=)	Inborn genetic diseases [RCV004977919]	likely benign	2	196320439	196320439	Human	1	name
598127194	CV3888063	single nucleotide variant	NM_001348768.2(HECW2):c.94G>T (p.Ala32Ser)	not provided [RCV005242749]	uncertain significance	2	196433330	196433330	Human		name
15156239	CV706454	single nucleotide variant	NM_001348768.2(HECW2):c.714C>T (p.Asn238=)	not provided [RCV000946658]	benign	2	196325007	196325007	Human		name
15156233	CV706455	single nucleotide variant	NM_001348768.2(HECW2):c.933C>T (p.His311=)	not provided [RCV000946657]	benign	2	196320391	196320391	Human		name
15156230	CV706457	variation	NM_001348768.2(HECW2):c.3444= (p.Ser1148=)	not provided [RCV000946656]	benign	2	196254005	196254005	Human		name
15165465	CV717985	single nucleotide variant	NM_001348768.2(HECW2):c.996A>G (p.Pro332=)	HECW2-related disorder [RCV003906003]\|Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV002503068]\|not provided [RCV000970954]	benign\|likely benign	2	196319894	196319894	Human	1	name , trait , alternate_id
15198417	CV729846	single nucleotide variant	NM_001348768.2(HECW2):c.807G>A (p.Lys269=)	not provided [RCV000890349]	likely benign	2	196322555	196322555	Human		name
15157315	CV743594	single nucleotide variant	NM_001348768.2(HECW2):c.861G>A (p.Arg287=)	not provided [RCV000902504]	likely benign	2	196322501	196322501	Human		name
15202296	CV758762	single nucleotide variant	NM_001348768.2(HECW2):c.97G>A (p.Ala33Thr)	not provided [RCV000913387]	likely benign	2	196433327	196433327	Human		name
15111400	CV774337	single nucleotide variant	NM_001348768.2(HECW2):c.360A>G (p.Gln120=)	not provided [RCV000938742]	likely benign	2	196343697	196343697	Human		name
8625249	CV80368	single nucleotide variant	NM_020760.2(HECW2):c.2713C>T (p.Pro905Ser)	Malignant melanoma [RCV000060445]	not provided	2	196306589	196306589	Human		name
8625250	CV80369	single nucleotide variant	NM_020760.2(HECW2):c.1089C>A (p.Asp363Glu)	Malignant melanoma [RCV000060446]	not provided	2	196319801	196319801	Human		name
8625251	CV80370	single nucleotide variant	NM_020760.2(HECW2):c.1051C>T (p.Pro351Ser)	Malignant melanoma [RCV000060447]	not provided	2	196319839	196319839	Human		name
150439352	CV1275178	single nucleotide variant	NM_001348768.2(HECW2):c.1293G>A (p.Pro431=)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001703317]\|not provided [RCV004710340]	benign	2	196319597	196319597	Human	1	name
151353319	CV1326405	single nucleotide variant	NM_001348768.2(HECW2):c.2940C>T (p.Phe980=)	not provided [RCV001816284]	likely benign	2	196292625	196292625	Human		name
152999722	CV1683289	single nucleotide variant	NM_001348768.2(HECW2):c.2499G>A (p.Thr833=)	See cases [RCV002252473]\|not provided [RCV004598199]	likely benign\|uncertain significance	2	196308021	196308021	Human		name
155804222	CV1866650	single nucleotide variant	NM_001348768.2(HECW2):c.206C>T (p.Thr69Met)	not provided [RCV002481203]	uncertain significance	2	196433218	196433218	Human		name
155924090	CV2212583	single nucleotide variant	NM_001348768.2(HECW2):c.101A>G (p.Gln34Arg)	Inborn genetic diseases [RCV002727846]	likely benign	2	196433323	196433323	Human	1	name
156180716	CV2225979	single nucleotide variant	NM_001348768.2(HECW2):c.151G>A (p.Asp51Asn)	Inborn genetic diseases [RCV002742265]\|not provided [RCV003435899]	uncertain significance	2	196433273	196433273	Human	1	name
243064056	CV2407660	single nucleotide variant	NM_001348768.2(HECW2):c.201G>C (p.Glu67Asp)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003142570]	uncertain significance	2	196433223	196433223	Human	1	name
401732639	CV2691065	single nucleotide variant	NM_001348768.2(HECW2):c.221A>G (p.Gln74Arg)	Inborn genetic diseases [RCV003290239]	uncertain significance	2	196433203	196433203	Human	1	name
401739354	CV2738542	single nucleotide variant	NM_001348768.2(HECW2):c.244A>G (p.Ile82Val)	not specified [RCV003317934]	uncertain significance	2	196433180	196433180	Human		name
401930000	CV2819459	single nucleotide variant	NM_001348768.2(HECW2):c.2964G>A (p.Pro988=)	not provided [RCV003440115]	likely benign	2	196292601	196292601	Human		name
401930004	CV2819463	single nucleotide variant	NM_001348768.2(HECW2):c.2043C>T (p.Asp681=)	not provided [RCV003440117]	likely benign	2	196318847	196318847	Human		name
401917411	CV2819465	single nucleotide variant	NM_001348768.2(HECW2):c.1458A>T (p.Gly486=)	not provided [RCV003429485]	likely benign	2	196319432	196319432	Human		name
405266151	CV3186579	single nucleotide variant	NM_001348768.2(HECW2):c.1086C>T (p.His362=)	not provided [RCV003886660]	likely benign	2	196319804	196319804	Human		name
405262642	CV3189367	single nucleotide variant	NM_001348768.2(HECW2):c.2163G>T (p.Gly721=)	HECW2-related disorder [RCV003896601]	likely benign	2	196318727	196318727	Human		name , trait , alternate_id
405263960	CV3189896	single nucleotide variant	NM_001348768.2(HECW2):c.2679A>G (p.Gln893=)	HECW2-related disorder [RCV003896944]	likely benign	2	196307140	196307140	Human		name , trait , alternate_id
405289657	CV3221066	single nucleotide variant	NM_001348768.2(HECW2):c.2532G>A (p.Pro844=)	HECW2-related disorder [RCV003961895]	likely benign	2	196307988	196307988	Human		name , trait , alternate_id
407428591	CV3410288	single nucleotide variant	NM_001348768.2(HECW2):c.1398T>C (p.Asp466=)	not specified [RCV004587895]	likely benign	2	196319492	196319492	Human		name
407424791	CV3410932	single nucleotide variant	NM_001348768.2(HECW2):c.1098G>A (p.Val366=)	not provided [RCV004588622]	uncertain significance	2	196319792	196319792	Human		name
407477474	CV3495127	single nucleotide variant	NM_001348768.2(HECW2):c.2583G>A (p.Arg861=)	not specified [RCV004691029]	uncertain significance	2	196307937	196307937	Human		name
408370579	CV3512117	single nucleotide variant	NM_001348768.2(HECW2):c.1737C>T (p.Gly579=)	HECW2-related disorder [RCV004739933]	likely benign	2	196319153	196319153	Human		name , trait , alternate_id
596947271	CV3548821	single nucleotide variant	NM_001348768.2(HECW2):c.2640T>C (p.Asn880=)	not provided [RCV004811145]	likely benign	2	196307179	196307179	Human		name
597834295	CV3735230	duplication	NM_001348768.2(HECW2):c.606dup (p.Phe203fs)	not provided [RCV005054963]	uncertain significance	2	196325114	196325115	Human		name
598175002	CV3890950	single nucleotide variant	NM_001348768.2(HECW2):c.157G>A (p.Val53Met)	not provided [RCV005251803]	uncertain significance	2	196433267	196433267	Human		name
15183601	CV706456	single nucleotide variant	NM_001348768.2(HECW2):c.2247T>C (p.Ala749=)	HECW2-related disorder [RCV003978233]\|not provided [RCV000952503]	benign	2	196318643	196318643	Human	1	name , trait , alternate_id
15140479	CV717988	single nucleotide variant	NM_001348768.2(HECW2):c.2698C>A (p.Arg900=)	HECW2-related disorder [RCV004740521]\|Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV005232003]\|not provided [RCV000966144]	benign	2	196306604	196306604	Human	1	name , trait , alternate_id
15108272	CV729850	single nucleotide variant	NM_001348768.2(HECW2):c.2229G>T (p.Leu743=)	HECW2-related disorder [RCV003930849]\|not provided [RCV000893637]	benign	2	196318661	196318661	Human	1	name , trait , alternate_id
15162913	CV743597	single nucleotide variant	NM_001348768.2(HECW2):c.1782C>T (p.Ala594=)	HECW2-related disorder [RCV003923020]\|not provided [RCV000903659]	likely benign	2	196319108	196319108	Human	1	name , trait , alternate_id
15164680	CV743600	single nucleotide variant	NM_001348768.2(HECW2):c.2661G>A (p.Glu887=)	HECW2-related disorder [RCV003958187]\|not provided [RCV000904056]	likely benign	2	196307158	196307158	Human	1	name , trait , alternate_id
15100813	CV758754	single nucleotide variant	NM_001348768.2(HECW2):c.1062C>T (p.Asp354=)	Inborn genetic diseases [RCV004986691]\|not provided [RCV000914670]	benign\|likely benign	2	196319828	196319828	Human	1	name
15156180	CV758757	single nucleotide variant	NM_001348768.2(HECW2):c.2250C>A (p.Ala750=)	not provided [RCV000924617]	likely benign	2	196318640	196318640	Human		name
15192268	CV774333	single nucleotide variant	NM_001348768.2(HECW2):c.1755C>T (p.Ser585=)	not provided [RCV000933035]	likely benign	2	196319135	196319135	Human		name
15142366	CV774334	single nucleotide variant	NM_001348768.2(HECW2):c.2913C>T (p.Arg971=)	not provided [RCV000944065]	likely benign	2	196292652	196292652	Human		name
15184941	CV786961	single nucleotide variant	NM_001348768.2(HECW2):c.2853G>A (p.Lys951=)	not provided [RCV000975486]	likely benign	2	196292712	196292712	Human		name
8625248	CV80367	single nucleotide variant	NM_020760.2(HECW2):c.4092T>A (p.Asp1364Glu)	Malignant melanoma [RCV000060444]	not provided	2	196222265	196222265	Human		name
126746214	CV1015398	single nucleotide variant	NM_001348768.2(HECW2):c.951G>T (p.Gln317His)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001328394]	uncertain significance	2	196320373	196320373	Human	1	name
126746210	CV1015399	single nucleotide variant	NM_001348768.2(HECW2):c.412A>G (p.Ile138Val)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001328393]	likely pathogenic	2	196334507	196334507	Human	1	name
150338389	CV1174105	single nucleotide variant	NM_001348768.2(HECW2):c.473C>T (p.Thr158Ile)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001542296]	uncertain significance	2	196334446	196334446	Human	1	name
150436535	CV1275175	single nucleotide variant	NM_001348768.2(HECW2):c.3444G>A (p.Ser1148=)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001702345]\|not provided [RCV004709125]	benign	2	196254005	196254005	Human	1	name
150529171	CV1288714	single nucleotide variant	NM_001348768.2(HECW2):c.686A>G (p.Gln229Arg)	Inborn genetic diseases [RCV003284384]\|not provided [RCV001727182]	uncertain significance	2	196325035	196325035	Human	1	name
151234035	CV1318066	single nucleotide variant	NM_001348768.2(HECW2):c.736C>T (p.Arg246Ter)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001789721]	pathogenic	2	196324985	196324985	Human	1	name
151353318	CV1326404	single nucleotide variant	NM_001348768.2(HECW2):c.4260G>A (p.Gln1420=)	not provided [RCV001816283]	likely benign	2	196220828	196220828	Human		name
153346670	CV1692226	duplication	NM_001348768.2(HECW2):c.2308dup (p.Ala770fs)	not provided [RCV002272074]	uncertain significance	2	196318581	196318582	Human		name
155645787	CV1709142	single nucleotide variant	NM_001348768.2(HECW2):c.895C>T (p.Leu299Phe)	not provided [RCV002292018]	uncertain significance	2	196320429	196320429	Human		name
155641786	CV1709939	single nucleotide variant	NM_001348768.2(HECW2):c.3267A>G (p.Leu1089=)	not provided [RCV002293039]	likely benign	2	196271261	196271261	Human		name
155713604	CV1760291	single nucleotide variant	NM_001348768.2(HECW2):c.434G>C (p.Gly145Ala)	not provided [RCV002300797]	uncertain significance	2	196334485	196334485	Human		name
155800393	CV1863542	single nucleotide variant	NM_001348768.2(HECW2):c.640C>T (p.Gln214Ter)	not provided [RCV002473965]	uncertain significance	2	196325081	196325081	Human		name
156150363	CV2213070	single nucleotide variant	NM_001348768.2(HECW2):c.592A>G (p.Lys198Glu)	Inborn genetic diseases [RCV002697607]	uncertain significance	2	196325129	196325129	Human	1	name
156184514	CV2335614	single nucleotide variant	NM_001348768.2(HECW2):c.872G>A (p.Arg291Gln)	Inborn genetic diseases [RCV002956602]\|Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003135259]\|not provided [RCV003435923]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	196322490	196322490	Human	2	name
156215995	CV2386031	single nucleotide variant	NM_001348768.2(HECW2):c.976G>C (p.Val326Leu)	Inborn genetic diseases [RCV002744401]	likely benign	2	196320348	196320348	Human	1	name
243059964	CV2407658	single nucleotide variant	NM_001348768.2(HECW2):c.643C>T (p.Pro215Ser)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003135545]	uncertain significance	2	196325078	196325078	Human	1	name
243052800	CV2407659	single nucleotide variant	NM_001348768.2(HECW2):c.860G>C (p.Arg287Thr)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003131108]	uncertain significance	2	196322502	196322502	Human	1	name
243052794	CV2412906	single nucleotide variant	NM_001348768.2(HECW2):c.983A>C (p.Glu328Ala)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003131106]	uncertain significance	2	196320341	196320341	Human	1	name
243050854	CV2415601	single nucleotide variant	NM_001348768.2(HECW2):c.811C>T (p.Arg271Cys)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003148201]	likely pathogenic	2	196322551	196322551	Human	1	name
329370765	CV2461854	single nucleotide variant	NM_001348768.2(HECW2):c.887A>G (p.Asp296Gly)	Inborn genetic diseases [RCV003209538]\|Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV004818297]	uncertain significance	2	196320437	196320437	Human	2	name
401728819	CV2729826	single nucleotide variant	NM_001348768.2(HECW2):c.511A>C (p.Met171Leu)	Inborn genetic diseases [RCV003288720]	likely benign	2	196329635	196329635	Human	1	name
401723903	CV2737902	single nucleotide variant	NM_001348768.2(HECW2):c.695G>A (p.Arg232Gln)	not provided [RCV003315074]	uncertain significance	2	196325026	196325026	Human		name
401796540	CV2740705	single nucleotide variant	NM_001348768.2(HECW2):c.475G>C (p.Val159Leu)	not provided [RCV003321375]	uncertain significance	2	196334444	196334444	Human		name
401798995	CV2741570	single nucleotide variant	NM_001348768.2(HECW2):c.797A>C (p.Lys266Thr)	not provided [RCV003322978]	uncertain significance	2	196322565	196322565	Human		name
401829620	CV2743892	single nucleotide variant	NM_001348768.2(HECW2):c.4647C>T (p.Tyr1549=)	not provided [RCV003327069]	likely benign	2	196201349	196201349	Human		name
401855693	CV2753111	single nucleotide variant	NM_001348768.2(HECW2):c.358C>A (p.Gln120Lys)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003338167]	uncertain significance	2	196343699	196343699	Human	1	name
401917399	CV2819457	single nucleotide variant	NM_001348768.2(HECW2):c.4314A>G (p.Val1438=)	not provided [RCV003429480]	likely benign	2	196220133	196220133	Human		name
401917400	CV2819458	single nucleotide variant	NM_001348768.2(HECW2):c.3138A>G (p.Val1046=)	not provided [RCV003429481]\|not specified [RCV005419625]	likely benign\|uncertain significance	2	196274121	196274121	Human		name
401917415	CV2819467	single nucleotide variant	NM_001348768.2(HECW2):c.373A>T (p.Ile125Phe)	not provided [RCV003429487]	uncertain significance	2	196343684	196343684	Human		name
405280122	CV3191685	single nucleotide variant	NM_001348768.2(HECW2):c.3555T>C (p.Ala1185=)	HECW2-related disorder [RCV003919822]	likely benign	2	196242179	196242179	Human		name , trait , alternate_id
405293104	CV3221217	single nucleotide variant	NM_001348768.2(HECW2):c.3963G>A (p.Gln1321=)	HECW2-related disorder [RCV003966755]	likely benign	2	196225825	196225825	Human		name , trait , alternate_id
405797402	CV3263061	single nucleotide variant	NM_001348768.2(HECW2):c.457A>T (p.Thr153Ser)	Inborn genetic diseases [RCV004401888]	uncertain significance	2	196334462	196334462	Human	1	name
405872335	CV3398381	single nucleotide variant	NM_001348768.2(HECW2):c.3129G>A (p.Ala1043=)	not provided [RCV004575382]	uncertain significance	2	196278534	196278534	Human		name
407425953	CV3409689	single nucleotide variant	NM_001348768.2(HECW2):c.3075C>T (p.Pro1025=)	not provided [RCV004585621]	likely benign	2	196278588	196278588	Human		name
407426279	CV3409813	single nucleotide variant	NM_001348768.2(HECW2):c.871C>G (p.Arg291Gly)	not provided [RCV004585745]	uncertain significance	2	196322491	196322491	Human		name
407427544	CV3411934	single nucleotide variant	NM_001348768.2(HECW2):c.896T>C (p.Leu299Pro)	not provided [RCV004592105]	uncertain significance	2	196320428	196320428	Human		name
407521198	CV3440453	single nucleotide variant	NM_001348768.2(HECW2):c.310A>G (p.Asn104Asp)	Inborn genetic diseases [RCV004630287]	uncertain significance	2	196343747	196343747	Human	1	name
408370371	CV3509582	single nucleotide variant	NM_001348768.2(HECW2):c.3525G>A (p.Ser1175=)	HECW2-related disorder [RCV004739239]	likely benign	2	196253924	196253924	Human		name , trait , alternate_id
408370543	CV3510949	single nucleotide variant	NM_001348768.2(HECW2):c.883G>A (p.Gly295Ser)	HECW2-related disorder [RCV004739843]	uncertain significance	2	196322479	196322479	Human		name , trait , alternate_id
408388901	CV3522817	single nucleotide variant	NM_001348768.2(HECW2):c.553G>T (p.Val185Phe)	not provided [RCV004769198]	uncertain significance	2	196329593	196329593	Human		name
408387323	CV3524501	single nucleotide variant	NM_001348768.2(HECW2):c.748T>G (p.Ser250Ala)	not provided [RCV004768375]	uncertain significance	2	196322614	196322614	Human		name
596921669	CV3535291	single nucleotide variant	NM_001348768.2(HECW2):c.431A>G (p.His144Arg)	not provided [RCV004784850]	uncertain significance	2	196334488	196334488	Human		name
12850077	CV363940	single nucleotide variant	NM_001348768.2(HECW2):c.700A>G (p.Thr234Ala)	not provided [RCV000441227]	uncertain significance	2	196325021	196325021	Human		name
597663350	CV3689107	single nucleotide variant	NM_001348768.2(HECW2):c.839A>C (p.Lys280Thr)	Inborn genetic diseases [RCV004977921]	likely benign	2	196322523	196322523	Human	1	name
597663179	CV3689108	single nucleotide variant	NM_001348768.2(HECW2):c.633G>A (p.Met211Ile)	Inborn genetic diseases [RCV004977922]	uncertain significance	2	196325088	196325088	Human	1	name
597846117	CV3880573	single nucleotide variant	NM_001348768.2(HECW2):c.637A>T (p.Ile213Phe)	not provided [RCV005227461]	uncertain significance	2	196325084	196325084	Human		name
598128074	CV3883092	single nucleotide variant	NM_001348768.2(HECW2):c.401C>T (p.Pro134Leu)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV005234625]	uncertain significance	2	196334518	196334518	Human	1	name
598198936	CV3892469	single nucleotide variant	NM_001348768.2(HECW2):c.445G>A (p.Ala149Thr)	not provided [RCV005254302]	uncertain significance	2	196334474	196334474	Human		name
598267354	CV3968027	single nucleotide variant	NM_001348768.2(HECW2):c.503C>T (p.Ala168Val)	Inborn genetic diseases [RCV005349495]	uncertain significance	2	196329643	196329643	Human	1	name
598247290	CV3968030	single nucleotide variant	NM_001348768.2(HECW2):c.671G>C (p.Cys224Ser)	Inborn genetic diseases [RCV005345277]	uncertain significance	2	196325050	196325050	Human	1	name
13532133	CV511383	single nucleotide variant	NM_001348768.2(HECW2):c.682G>C (p.Gly228Arg)	Inborn genetic diseases [RCV000623949]	uncertain significance	2	196325039	196325039	Human	1	name
15156244	CV706453	single nucleotide variant	NM_001348768.2(HECW2):c.533A>G (p.Asn178Ser)	HECW2-related disorder [RCV004740514]\|Intellectual disability [RCV001252511]\|not provided [RCV000946659]	benign\|likely benign	2	196329613	196329613	Human	3	name , trait , alternate_id
15156223	CV706458	single nucleotide variant	NM_001348768.2(HECW2):c.4020A>G (p.Leu1340=)	HECW2-related disorder [RCV003970665]\|not provided [RCV000946655]	benign	2	196222337	196222337	Human	1	name , trait , alternate_id
15175669	CV706460	single nucleotide variant	NM_001348768.2(HECW2):c.347C>T (p.Thr116Ile)	not provided [RCV000950644]	benign	2	196343710	196343710	Human		name
15151236	CV729854	single nucleotide variant	NM_001348768.2(HECW2):c.4554C>T (p.Asn1518=)	HECW2-related disorder [RCV003930485]\|not provided [RCV000879553]	benign\|likely benign	2	196215918	196215918	Human	1	name , trait , alternate_id
15175543	CV729855	single nucleotide variant	NM_001348768.2(HECW2):c.4560A>C (p.Pro1520=)	not provided [RCV000884392]	likely benign	2	196215912	196215912	Human		name
15107981	CV729856	single nucleotide variant	NM_001348768.2(HECW2):c.4617A>T (p.Thr1539=)	not provided [RCV000893585]	benign\|likely benign	2	196201379	196201379	Human		name
15193371	CV729858	single nucleotide variant	NM_001348768.2(HECW2):c.400C>T (p.Pro134Ser)	HECW2-related disorder [RCV004740490]\|not provided [RCV000888928]	benign	2	196343657	196343657	Human	1	name , trait , alternate_id
15173521	CV743601	single nucleotide variant	NM_001348768.2(HECW2):c.3084G>A (p.Ala1028=)	not provided [RCV000905857]	likely benign	2	196278579	196278579	Human		name
15191330	CV743603	single nucleotide variant	NM_001348768.2(HECW2):c.3186C>T (p.Ser1062=)	not provided [RCV000910214]	likely benign	2	196274073	196274073	Human		name
15134909	CV743604	single nucleotide variant	NM_001348768.2(HECW2):c.3351T>C (p.Phe1117=)	not provided [RCV000898369]	likely benign	2	196257891	196257891	Human		name
15156383	CV758758	single nucleotide variant	NM_001348768.2(HECW2):c.3318C>T (p.Thr1106=)	not provided [RCV000924660]	likely benign	2	196271210	196271210	Human		name
15110980	CV758759	single nucleotide variant	NM_001348768.2(HECW2):c.3579C>T (p.Phe1193=)	not provided [RCV000916642]	likely benign	2	196242155	196242155	Human		name
15098350	CV758760	single nucleotide variant	NM_001348768.2(HECW2):c.3864A>C (p.Thr1288=)	HECW2-related disorder [RCV003958358]\|not provided [RCV000914227]	likely benign	2	196228155	196228155	Human	1	name , trait , alternate_id
15202292	CV758761	single nucleotide variant	NM_001348768.2(HECW2):c.4242T>C (p.Ile1414=)	not provided [RCV000913386]	benign\|likely benign	2	196220846	196220846	Human		name
15137845	CV774335	single nucleotide variant	NM_001348768.2(HECW2):c.3678A>G (p.Leu1226=)	not provided [RCV000943305]	likely benign	2	196240535	196240535	Human		name
15193239	CV774336	single nucleotide variant	NM_001348768.2(HECW2):c.4359A>C (p.Thr1453=)	not provided [RCV000933310]	likely benign	2	196220088	196220088	Human		name
21070990	CV790144	single nucleotide variant	NM_001348768.2(HECW2):c.452G>A (p.Arg151Gln)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV000986964]	likely benign	2	196334467	196334467	Human	1	name
40886664	CV973269	single nucleotide variant	NM_001348768.2(HECW2):c.886G>C (p.Asp296His)	Inborn genetic diseases [RCV001265861]	uncertain significance	2	196320438	196320438	Human	1	name
126746225	CV1015396	single nucleotide variant	NM_001348768.2(HECW2):c.2818G>A (p.Ala940Thr)	HECW2-related disorder [RCV004546635]\|Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001328396]\|not provided [RCV001760422]	uncertain significance\|not provided	2	196292747	196292747	Human	1	name , trait , alternate_id
126746220	CV1015397	single nucleotide variant	NM_001348768.2(HECW2):c.2587T>C (p.Tyr863His)	Abnormality of the nervous system [RCV001814305]\|Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001328395]	likely pathogenic	2	196307232	196307232	Human	3	name
126739358	CV1015944	single nucleotide variant	NM_001348768.2(HECW2):c.2846G>C (p.Cys949Ser)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001329168]	uncertain significance	2	196292719	196292719	Human	1	name
126739353	CV1015945	single nucleotide variant	NM_001348768.2(HECW2):c.2261C>T (p.Pro754Leu)	Inborn genetic diseases [RCV005348445]\|Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001329167]	uncertain significance	2	196318629	196318629	Human	2	name
126739351	CV1015946	single nucleotide variant	NM_001348768.2(HECW2):c.1967T>C (p.Val656Ala)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001329166]	uncertain significance	2	196318923	196318923	Human	1	name
126739347	CV1015947	single nucleotide variant	NM_001348768.2(HECW2):c.1855C>G (p.Pro619Ala)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001329165]	uncertain significance	2	196319035	196319035	Human	1	name
126739342	CV1015948	single nucleotide variant	NM_001348768.2(HECW2):c.1166G>A (p.Ser389Asn)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001329164]	uncertain significance	2	196319724	196319724	Human	1	name
126732721	CV1019520	single nucleotide variant	NM_001348768.2(HECW2):c.2896C>T (p.Arg966Cys)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001334100]	uncertain significance	2	196292669	196292669	Human	1	name
126732717	CV1019521	single nucleotide variant	NM_001348768.2(HECW2):c.1892G>A (p.Arg631Lys)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001334099]	uncertain significance	2	196318998	196318998	Human	1	name
126732713	CV1019522	single nucleotide variant	NM_001348768.2(HECW2):c.1093C>G (p.Gln365Glu)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001334098]	uncertain significance	2	196319797	196319797	Human	1	name
127251749	CV1068898	single nucleotide variant	NM_001348768.2(HECW2):c.2639A>T (p.Asn880Ile)	not provided [RCV001400185]	likely benign	2	196307180	196307180	Human		name
127337227	CV1132994	single nucleotide variant	NM_001348768.2(HECW2):c.1657G>A (p.Gly553Ser)	Inborn genetic diseases [RCV004631721]\|not provided [RCV001492724]	likely benign	2	196319233	196319233	Human	1	name
150409886	CV1195921	single nucleotide variant	NM_001348768.2(HECW2):c.2097A>C (p.Glu699Asp)	Inborn genetic diseases [RCV003161118]\|not provided [RCV001572834]	likely benign	2	196318793	196318793	Human	1	name
150548518	CV1294361	single nucleotide variant	NM_001348768.2(HECW2):c.2694C>A (p.Phe898Leu)	not provided [RCV001751853]	uncertain significance	2	196306608	196306608	Human		name
150549503	CV1295284	single nucleotide variant	NM_001348768.2(HECW2):c.2106C>A (p.Cys702Ter)	not provided [RCV001765184]	uncertain significance	2	196318784	196318784	Human		name
150545909	CV1297017	single nucleotide variant	NM_001348768.2(HECW2):c.1042T>A (p.Leu348Ile)	not provided [RCV001763308]	uncertain significance	2	196319848	196319848	Human		name
150555243	CV1297677	single nucleotide variant	NM_001348768.2(HECW2):c.2004T>A (p.Phe668Leu)	not provided [RCV001772584]	uncertain significance	2	196318886	196318886	Human		name
150540770	CV1298495	single nucleotide variant	NM_001348768.2(HECW2):c.1889C>A (p.Thr630Asn)	not provided [RCV001760643]	uncertain significance	2	196319001	196319001	Human		name
150542598	CV1302648	single nucleotide variant	NM_001348768.2(HECW2):c.2951A>G (p.Gln984Arg)	not provided [RCV001761338]	uncertain significance	2	196292614	196292614	Human		name
151353320	CV1326406	single nucleotide variant	NM_001348768.2(HECW2):c.2242G>C (p.Ala748Pro)	Inborn genetic diseases [RCV004980702]\|Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV002503308]\|not provided [RCV001816285]	uncertain significance	2	196318648	196318648	Human	2	name
152102204	CV1667215	single nucleotide variant	NM_001348768.2(HECW2):c.1240G>C (p.Asp414His)	Inborn genetic diseases [RCV003289474]\|See cases [RCV002252774]\|not provided [RCV002214201]	likely benign\|uncertain significance	2	196319650	196319650	Human	1	name
153000588	CV1683170	single nucleotide variant	NM_001348768.2(HECW2):c.1240G>A (p.Asp414Asn)	Inborn genetic diseases [RCV004973382]\|See cases [RCV002253180]	uncertain significance	2	196319650	196319650	Human	1	name
152999781	CV1683342	single nucleotide variant	NM_001348768.2(HECW2):c.2031G>C (p.Gln677His)	See cases [RCV002252526]	uncertain significance	2	196318859	196318859	Human		name
153304984	CV1687431	single nucleotide variant	NM_001348768.2(HECW2):c.1913T>C (p.Leu638Pro)	HECW2-related disorder [RCV004741271]\|not provided [RCV002263251]	benign\|likely benign	2	196318977	196318977	Human	1	name , trait , alternate_id
153304985	CV1687432	single nucleotide variant	NM_001348768.2(HECW2):c.1829T>C (p.Val610Ala)	Inborn genetic diseases [RCV003095969]\|not provided [RCV002263252]	likely benign\|uncertain significance	2	196319061	196319061	Human	1	name
153301982	CV1688006	single nucleotide variant	NM_001348768.2(HECW2):c.1870A>G (p.Ser624Gly)	not provided [RCV002265232]	uncertain significance	2	196319020	196319020	Human		name
153347209	CV1691976	single nucleotide variant	NM_001348768.2(HECW2):c.2436C>A (p.Asn812Lys)	Inborn genetic diseases [RCV004047489]\|not provided [RCV002273461]	uncertain significance	2	196308084	196308084	Human	1	name
155267022	CV1699390	single nucleotide variant	NM_001348768.2(HECW2):c.2926T>C (p.Phe976Leu)	not provided [RCV002283185]	uncertain significance	2	196292639	196292639	Human		name
155268790	CV1705617	single nucleotide variant	NM_001348768.2(HECW2):c.1931C>T (p.Ser644Phe)	not provided [RCV002286224]	uncertain significance	2	196318959	196318959	Human		name
155645277	CV1705903	single nucleotide variant	NM_001348768.2(HECW2):c.2059G>A (p.Glu687Lys)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV002286555]	uncertain significance	2	196318831	196318831	Human	1	name
155645183	CV1710663	single nucleotide variant	NM_001348768.2(HECW2):c.1990G>C (p.Glu664Gln)	not provided [RCV002293959]	uncertain significance	2	196318900	196318900	Human		name
155797702	CV1860438	single nucleotide variant	NM_001348768.2(HECW2):c.2923G>A (p.Gly975Arg)	not provided [RCV002467080]	uncertain significance	2	196292642	196292642	Human		name
155799417	CV1862485	single nucleotide variant	NM_001348768.2(HECW2):c.1979G>A (p.Cys660Tyr)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV002471891]	uncertain significance	2	196318911	196318911	Human	1	name
155797466	CV1863341	single nucleotide variant	NM_001348768.2(HECW2):c.1772G>A (p.Ser591Asn)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV002470615]	uncertain significance	2	196319118	196319118	Human	1	name
155797468	CV1863342	single nucleotide variant	NM_001348768.2(HECW2):c.1462C>G (p.Leu488Val)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV002470616]	uncertain significance	2	196319428	196319428	Human	1	name
156189847	CV1867307	single nucleotide variant	NM_001348768.2(HECW2):c.1451A>T (p.Glu484Val)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV002509010]	not provided	2	196319439	196319439	Human		name
156026286	CV2025720	single nucleotide variant	NM_001348768.2(HECW2):c.1018G>A (p.Gly340Arg)	not provided [RCV002735612]	uncertain significance	2	196319872	196319872	Human		name
156026932	CV2108836	single nucleotide variant	NM_001348768.2(HECW2):c.1735G>A (p.Gly579Ser)	HECW2-related disorder [RCV003973549]\|Inborn genetic diseases [RCV004983196]\|not provided [RCV002909885]	likely benign	2	196319155	196319155	Human	2	name , trait , alternate_id
156113486	CV2136297	single nucleotide variant	NM_001348768.2(HECW2):c.1717G>A (p.Val573Ile)	HECW2-related disorder [RCV003943710]\|Inborn genetic diseases [RCV004632143]\|not provided [RCV003002691]	likely benign	2	196319173	196319173	Human	2	name , trait , alternate_id
156040336	CV2143417	single nucleotide variant	NM_001348768.2(HECW2):c.1205C>T (p.Thr402Met)	Inborn genetic diseases [RCV002999495]\|not provided [RCV002999494]	likely benign	2	196319685	196319685	Human	1	name
155979047	CV2157125	single nucleotide variant	NM_001348768.2(HECW2):c.1304C>A (p.Thr435Asn)	HECW2-related disorder [RCV004741372]\|not provided [RCV003016285]	uncertain significance	2	196319586	196319586	Human	1	name , trait , alternate_id
156182769	CV2201913	single nucleotide variant	NM_001348768.2(HECW2):c.1553C>G (p.Ala518Gly)	Inborn genetic diseases [RCV002665405]	likely benign	2	196319337	196319337	Human	1	name
156138388	CV2202816	single nucleotide variant	NM_001348768.2(HECW2):c.2141G>T (p.Ser714Ile)	Inborn genetic diseases [RCV002641123]	likely benign	2	196318749	196318749	Human	1	name
156238167	CV2207082	single nucleotide variant	NM_001348768.2(HECW2):c.2510G>A (p.Arg837Gln)	Inborn genetic diseases [RCV002701669]	uncertain significance	2	196308010	196308010	Human	1	name
156253466	CV2212554	single nucleotide variant	NM_001348768.2(HECW2):c.1996G>A (p.Ala666Thr)	Inborn genetic diseases [RCV002702586]	uncertain significance	2	196318894	196318894	Human	1	name
156381276	CV2215426	single nucleotide variant	NM_001348768.2(HECW2):c.2878G>T (p.Asp960Tyr)	Inborn genetic diseases [RCV002678749]\|not provided [RCV003228125]	uncertain significance	2	196292687	196292687	Human	1	name
156383286	CV2223850	single nucleotide variant	NM_001348768.2(HECW2):c.1904A>G (p.Glu635Gly)	Inborn genetic diseases [RCV002722955]	likely benign	2	196318986	196318986	Human	1	name
156133876	CV2235471	single nucleotide variant	NM_001348768.2(HECW2):c.1985C>G (p.Ser662Cys)	Inborn genetic diseases [RCV002763107]	uncertain significance	2	196318905	196318905	Human	1	name
156151875	CV2245236	single nucleotide variant	NM_001348768.2(HECW2):c.2615A>C (p.Asn872Thr)	Inborn genetic diseases [RCV002786945]	uncertain significance	2	196307204	196307204	Human	1	name
156215490	CV2257580	single nucleotide variant	NM_001348768.2(HECW2):c.2387G>A (p.Arg796His)	Inborn genetic diseases [RCV002804372]	uncertain significance	2	196317321	196317321	Human	1	name
155981821	CV2272900	single nucleotide variant	NM_001348768.2(HECW2):c.1826A>G (p.Gln609Arg)	Inborn genetic diseases [RCV002818651]	uncertain significance	2	196319064	196319064	Human	1	name
155966568	CV2284385	single nucleotide variant	NM_001348768.2(HECW2):c.1688G>A (p.Gly563Asp)	Inborn genetic diseases [RCV002841813]	uncertain significance	2	196319202	196319202	Human	1	name
156263744	CV2289724	single nucleotide variant	NM_001348768.2(HECW2):c.2864C>T (p.Thr955Ile)	Inborn genetic diseases [RCV002855586]	uncertain significance	2	196292701	196292701	Human	1	name
155901583	CV2294545	single nucleotide variant	NM_001348768.2(HECW2):c.1181T>C (p.Ile394Thr)	Inborn genetic diseases [RCV002901146]	uncertain significance	2	196319709	196319709	Human	1	name
156150715	CV2307501	single nucleotide variant	NM_001348768.2(HECW2):c.2107A>G (p.Thr703Ala)	Inborn genetic diseases [RCV002915363]	uncertain significance	2	196318783	196318783	Human	1	name
156244398	CV2313120	single nucleotide variant	NM_001348768.2(HECW2):c.2026T>G (p.Ser676Ala)	Inborn genetic diseases [RCV002919527]	uncertain significance	2	196318864	196318864	Human	1	name
156210603	CV2314318	single nucleotide variant	NM_001348768.2(HECW2):c.2311A>C (p.Thr771Pro)	Inborn genetic diseases [RCV002893743]	uncertain significance	2	196318579	196318579	Human	1	name
156082031	CV2333443	single nucleotide variant	NM_001348768.2(HECW2):c.1921G>A (p.Ala641Thr)	Inborn genetic diseases [RCV002951854]	uncertain significance	2	196318969	196318969	Human	1	name
155970834	CV2334149	single nucleotide variant	NM_001348768.2(HECW2):c.2165C>T (p.Ala722Val)	Inborn genetic diseases [RCV002945773]\|not provided [RCV004809935]	likely benign	2	196318725	196318725	Human	1	name
155914505	CV2342016	single nucleotide variant	NM_001348768.2(HECW2):c.1775G>A (p.Arg592Gln)	Inborn genetic diseases [RCV002968470]\|not provided [RCV003435922]	likely benign\|uncertain significance	2	196319115	196319115	Human	1	name
155920972	CV2350593	single nucleotide variant	NM_001348768.2(HECW2):c.2660A>C (p.Glu887Ala)	Inborn genetic diseases [RCV002991957]\|not specified [RCV004690385]	likely benign\|uncertain significance	2	196307159	196307159	Human	1	name
156163059	CV2368384	single nucleotide variant	NM_001348768.2(HECW2):c.2216G>A (p.Arg739Gln)	Inborn genetic diseases [RCV002698385]	uncertain significance	2	196318674	196318674	Human	1	name
156176241	CV2374434	single nucleotide variant	NM_001348768.2(HECW2):c.1561C>A (p.His521Asn)	Inborn genetic diseases [RCV002699104]	likely benign	2	196319329	196319329	Human	1	name
156176261	CV2374435	single nucleotide variant	NM_001348768.2(HECW2):c.1563C>G (p.His521Gln)	Inborn genetic diseases [RCV002699105]	uncertain significance	2	196319327	196319327	Human	1	name
156049474	CV2378229	single nucleotide variant	NM_001348768.2(HECW2):c.1879G>A (p.Glu627Lys)	HECW2-related disorder [RCV003963786]\|Inborn genetic diseases [RCV002704857]	likely benign	2	196319011	196319011	Human	2	name , trait , alternate_id
156391241	CV2385193	single nucleotide variant	NM_001348768.2(HECW2):c.1756G>A (p.Asp586Asn)	Inborn genetic diseases [RCV002724797]	likely benign	2	196319134	196319134	Human	1	name
243063833	CV2405355	single nucleotide variant	NM_001348768.2(HECW2):c.2990A>G (p.His997Arg)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003225893]	uncertain significance	2	196292575	196292575	Human	1	name
243052797	CV2407653	single nucleotide variant	NM_001348768.2(HECW2):c.2824C>T (p.Arg942Cys)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003131107]	uncertain significance	2	196292741	196292741	Human	1	name
243059960	CV2407654	single nucleotide variant	NM_001348768.2(HECW2):c.1655G>A (p.Gly552Asp)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003135541]	uncertain significance	2	196319235	196319235	Human	1	name
243059961	CV2407655	single nucleotide variant	NM_001348768.2(HECW2):c.1793C>T (p.Thr598Ile)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003135542]	uncertain significance	2	196319097	196319097	Human	1	name
243059962	CV2407656	single nucleotide variant	NM_001348768.2(HECW2):c.2294G>A (p.Gly765Asp)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003135543]	uncertain significance	2	196318596	196318596	Human	1	name
243059966	CV2407662	single nucleotide variant	NM_001348768.2(HECW2):c.1511C>A (p.Ser504Tyr)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003135547]	uncertain significance	2	196319379	196319379	Human	1	name
243059959	CV2412907	single nucleotide variant	NM_001348768.2(HECW2):c.2311A>G (p.Thr771Ala)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003135540]	uncertain significance	2	196318579	196318579	Human	1	name
329353916	CV2436632	single nucleotide variant	NM_001348768.2(HECW2):c.2386C>T (p.Arg796Cys)	Inborn genetic diseases [RCV003201709]	likely benign	2	196317322	196317322	Human	1	name
329392370	CV2438903	single nucleotide variant	NM_001348768.2(HECW2):c.2005C>T (p.Pro669Ser)	Inborn genetic diseases [RCV003192629]	likely benign	2	196318885	196318885	Human	1	name
329394915	CV2457726	single nucleotide variant	NM_001348768.2(HECW2):c.1625C>T (p.Pro542Leu)	Inborn genetic diseases [RCV003193996]	uncertain significance	2	196319265	196319265	Human	1	name
329395377	CV2458310	single nucleotide variant	NM_001348768.2(HECW2):c.1742A>T (p.Asp581Val)	Inborn genetic diseases [RCV003194338]	uncertain significance	2	196319148	196319148	Human	1	name
329955062	CV2671002	single nucleotide variant	NM_001348768.2(HECW2):c.2009A>C (p.Glu670Ala)	not specified [RCV003236271]	uncertain significance	2	196318881	196318881	Human		name
329954154	CV2671940	single nucleotide variant	NM_001348768.2(HECW2):c.1648G>C (p.Gly550Arg)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003237331]	likely benign	2	196319242	196319242	Human	1	name
401741776	CV2676523	single nucleotide variant	NM_001348768.2(HECW2):c.2822A>G (p.Tyr941Cys)	Inborn genetic diseases [RCV003251532]\|not provided [RCV003436004]	likely benign	2	196292743	196292743	Human	1	name
401740337	CV2683329	single nucleotide variant	NM_001348768.2(HECW2):c.2120T>C (p.Leu707Ser)	Inborn genetic diseases [RCV003251202]	uncertain significance	2	196318770	196318770	Human	1	name
401769240	CV2693542	single nucleotide variant	NM_001348768.2(HECW2):c.2062C>T (p.Pro688Ser)	Inborn genetic diseases [RCV003260463]	uncertain significance	2	196318828	196318828	Human	1	name
401774205	CV2702645	single nucleotide variant	NM_001348768.2(HECW2):c.2764G>A (p.Val922Met)	Inborn genetic diseases [RCV003262468]	likely benign	2	196306538	196306538	Human	1	name
401722941	CV2737757	single nucleotide variant	NM_001348768.2(HECW2):c.2687C>T (p.Ala896Val)	not provided [RCV003314929]\|not specified [RCV003994537]	uncertain significance	2	196307132	196307132	Human		name
401798783	CV2739480	single nucleotide variant	NM_001348768.2(HECW2):c.2278G>A (p.Ala760Thr)	not provided [RCV003319128]	uncertain significance	2	196318612	196318612	Human		name
401796328	CV2740510	single nucleotide variant	NM_001348768.2(HECW2):c.2723C>T (p.Thr908Ile)	not provided [RCV003321180]	uncertain significance	2	196306579	196306579	Human		name
401797222	CV2742036	single nucleotide variant	NM_001348768.2(HECW2):c.1618T>C (p.Ser540Pro)	not specified [RCV003324212]	uncertain significance	2	196319272	196319272	Human		name
401828782	CV2743117	single nucleotide variant	NM_001348768.2(HECW2):c.1156T>C (p.Phe386Leu)	not provided [RCV003325826]	uncertain significance	2	196319734	196319734	Human		name
401867345	CV2748882	single nucleotide variant	NM_001348768.2(HECW2):c.1568C>T (p.Ala523Val)	not specified [RCV003331704]	uncertain significance	2	196319322	196319322	Human		name
401870851	CV2749429	single nucleotide variant	NM_001348768.2(HECW2):c.2344C>T (p.Gln782Ter)	not provided [RCV003332557]	uncertain significance	2	196317364	196317364	Human		name
401855659	CV2753077	single nucleotide variant	NM_001348768.2(HECW2):c.1532A>G (p.Asn511Ser)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003338132]	uncertain significance	2	196319358	196319358	Human	1	name
401884803	CV2774578	single nucleotide variant	NM_001348768.2(HECW2):c.2825G>T (p.Arg942Leu)	Inborn genetic diseases [RCV003366315]	likely benign	2	196292740	196292740	Human	1	name
401891135	CV2778663	single nucleotide variant	NM_001348768.2(HECW2):c.2215C>T (p.Arg739Trp)	HECW2-related disorder [RCV004741493]\|Inborn genetic diseases [RCV003354778]	likely benign	2	196318675	196318675	Human	2	name , trait , alternate_id
401931257	CV2805446	single nucleotide variant	NM_001348768.2(HECW2):c.2416G>A (p.Asp806Asn)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003389936]	not provided	2	196317292	196317292	Human		name
401917403	CV2819460	single nucleotide variant	NM_001348768.2(HECW2):c.2698C>T (p.Arg900Trp)	not provided [RCV003429482]	uncertain significance	2	196306604	196306604	Human		name
401930002	CV2819461	single nucleotide variant	NM_001348768.2(HECW2):c.2329G>A (p.Ala777Thr)	Inborn genetic diseases [RCV004364576]\|not provided [RCV003440116]	likely benign\|uncertain significance	2	196318561	196318561	Human	1	name
401917404	CV2819462	single nucleotide variant	NM_001348768.2(HECW2):c.2152G>A (p.Glu718Lys)	not provided [RCV003429483]	likely benign	2	196318738	196318738	Human		name
401917407	CV2819464	single nucleotide variant	NM_001348768.2(HECW2):c.1465A>C (p.Ile489Leu)	not provided [RCV003429484]	benign	2	196319425	196319425	Human		name
401912840	CV2830027	single nucleotide variant	NM_001348768.2(HECW2):c.1021G>T (p.Val341Phe)	not provided [RCV003441241]	uncertain significance	2	196319869	196319869	Human		name
401905266	CV2831419	single nucleotide variant	NM_001348768.2(HECW2):c.2024C>G (p.Ser675Cys)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003444411]	uncertain significance	2	196318866	196318866	Human	1	name
401963706	CV2843262	single nucleotide variant	NM_001348768.2(HECW2):c.1097T>A (p.Val366Glu)	not specified [RCV003479604]	uncertain significance	2	196319793	196319793	Human		name
401963830	CV2844875	single nucleotide variant	NM_001348768.2(HECW2):c.1016T>C (p.Leu339Pro)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003484452]	uncertain significance	2	196319874	196319874	Human	1	name
405201750	CV3066909	single nucleotide variant	NM_001348768.2(HECW2):c.2735G>C (p.Arg912Thr)	not provided [RCV003730796]	uncertain significance	2	196306567	196306567	Human		name
405260834	CV3204386	single nucleotide variant	NM_001348768.2(HECW2):c.2705A>G (p.Asn902Ser)	HECW2-related disorder [RCV003944212]	likely benign	2	196306597	196306597	Human		name , trait , alternate_id
405696466	CV3226734	single nucleotide variant	NM_001348768.2(HECW2):c.2251G>A (p.Glu751Lys)	not provided [RCV003993127]	likely benign	2	196318639	196318639	Human		name
405797353	CV3263045	single nucleotide variant	NM_001348768.2(HECW2):c.1076G>A (p.Gly359Glu)	Inborn genetic diseases [RCV004401872]	likely benign	2	196319814	196319814	Human	1	name
405797357	CV3263046	single nucleotide variant	NM_001348768.2(HECW2):c.1235G>A (p.Arg412His)	Inborn genetic diseases [RCV004401873]	uncertain significance	2	196319655	196319655	Human	1	name
405797363	CV3263048	single nucleotide variant	NM_001348768.2(HECW2):c.1267A>G (p.Ile423Val)	Inborn genetic diseases [RCV004401875]	uncertain significance	2	196319623	196319623	Human	1	name
405797369	CV3263050	single nucleotide variant	NM_001348768.2(HECW2):c.2083G>A (p.Glu695Lys)	Inborn genetic diseases [RCV004401877]	likely benign	2	196318807	196318807	Human	1	name
405797371	CV3263051	single nucleotide variant	NM_001348768.2(HECW2):c.2108C>G (p.Thr703Ser)	Inborn genetic diseases [RCV004401878]	uncertain significance	2	196318782	196318782	Human	1	name
405797375	CV3263052	single nucleotide variant	NM_001348768.2(HECW2):c.2308G>T (p.Ala770Ser)	Inborn genetic diseases [RCV004401879]	uncertain significance	2	196318582	196318582	Human	1	name
405797378	CV3263053	single nucleotide variant	NM_001348768.2(HECW2):c.2353G>A (p.Gly785Ser)	Inborn genetic diseases [RCV004401880]	uncertain significance	2	196317355	196317355	Human	1	name
405797384	CV3263055	single nucleotide variant	NM_001348768.2(HECW2):c.2795C>T (p.Thr932Ile)	Inborn genetic diseases [RCV004401882]	likely benign	2	196306507	196306507	Human	1	name
405797390	CV3263057	single nucleotide variant	NM_001348768.2(HECW2):c.2941G>A (p.Ala981Thr)	Inborn genetic diseases [RCV004401884]	likely benign	2	196292624	196292624	Human	1	name
405797393	CV3263058	single nucleotide variant	NM_001348768.2(HECW2):c.2963C>T (p.Pro988Leu)	Inborn genetic diseases [RCV004401885]	uncertain significance	2	196292602	196292602	Human	1	name
405855228	CV3393990	single nucleotide variant	NM_001348768.2(HECW2):c.2792T>A (p.Phe931Tyr)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV004547216]	uncertain significance	2	196306510	196306510	Human	1	name
405871798	CV3398076	single nucleotide variant	NM_001348768.2(HECW2):c.1105A>G (p.Asn369Asp)	not provided [RCV004575077]	likely benign	2	196319785	196319785	Human		name
407521193	CV3440451	single nucleotide variant	NM_001348768.2(HECW2):c.1151A>G (p.His384Arg)	Inborn genetic diseases [RCV004630285]	uncertain significance	2	196319739	196319739	Human	1	name
407521195	CV3440452	single nucleotide variant	NM_001348768.2(HECW2):c.1783G>A (p.Val595Ile)	Inborn genetic diseases [RCV004630286]	likely benign	2	196319107	196319107	Human	1	name
407521203	CV3440455	single nucleotide variant	NM_001348768.2(HECW2):c.2699G>C (p.Arg900Pro)	Inborn genetic diseases [RCV004630289]	uncertain significance	2	196306603	196306603	Human	1	name
407521214	CV3440459	single nucleotide variant	NM_001348768.2(HECW2):c.1804G>A (p.Asp602Asn)	Inborn genetic diseases [RCV004630293]	uncertain significance	2	196319086	196319086	Human	1	name
407521217	CV3440460	single nucleotide variant	NM_001348768.2(HECW2):c.2027C>T (p.Ser676Phe)	Inborn genetic diseases [RCV004630294]	uncertain significance	2	196318863	196318863	Human	1	name
407521220	CV3440461	single nucleotide variant	NM_001348768.2(HECW2):c.2036A>T (p.Glu679Val)	Inborn genetic diseases [RCV004630295]	uncertain significance	2	196318854	196318854	Human	1	name
407510575	CV3440462	single nucleotide variant	NM_001348768.2(HECW2):c.2018C>G (p.Ala673Gly)	Inborn genetic diseases [RCV004626164]	likely benign\|uncertain significance	2	196318872	196318872	Human	1	name
407510577	CV3440463	single nucleotide variant	NM_001348768.2(HECW2):c.1978T>G (p.Cys660Gly)	Inborn genetic diseases [RCV004626165]	uncertain significance	2	196318912	196318912	Human	1	name
408381147	CV3501411	single nucleotide variant	NM_001348768.2(HECW2):c.1886G>A (p.Ser629Asn)	not provided [RCV004727500]	uncertain significance	2	196319004	196319004	Human		name
408389594	CV3524637	single nucleotide variant	NM_001348768.2(HECW2):c.2409G>C (p.Gln803His)	not provided [RCV004769532]	uncertain significance	2	196317299	196317299	Human		name
596926131	CV3530706	single nucleotide variant	NM_001348768.2(HECW2):c.2626G>A (p.Glu876Lys)	not provided [RCV004778291]	uncertain significance	2	196307193	196307193	Human		name
596931369	CV3531705	single nucleotide variant	NM_001348768.2(HECW2):c.2933A>G (p.Asn978Ser)	not provided [RCV004781267]	uncertain significance	2	196292632	196292632	Human		name
596923693	CV3532009	single nucleotide variant	NM_001348768.2(HECW2):c.1127G>A (p.Ser376Asn)	not provided [RCV004777120]	uncertain significance	2	196319763	196319763	Human		name
596927490	CV3536724	single nucleotide variant	NM_001348768.2(HECW2):c.1685A>G (p.Gln562Arg)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV004790134]	uncertain significance	2	196319205	196319205	Human	1	name
596928505	CV3540432	single nucleotide variant	NM_001348768.2(HECW2):c.1522C>G (p.Leu508Val)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV004794759]	uncertain significance	2	196319368	196319368	Human	1	name
596943134	CV3542797	single nucleotide variant	NM_001348768.2(HECW2):c.2498C>T (p.Thr833Met)	not provided [RCV004798381]	uncertain significance	2	196308022	196308022	Human		name
596943185	CV3542820	single nucleotide variant	NM_001348768.2(HECW2):c.2123C>T (p.Pro708Leu)	not provided [RCV004798404]	uncertain significance	2	196318767	196318767	Human		name
596946183	CV3548151	single nucleotide variant	NM_001348768.2(HECW2):c.1775G>T (p.Arg592Leu)	not provided [RCV004809482]	likely benign	2	196319115	196319115	Human		name
596948288	CV3549370	single nucleotide variant	NM_001348768.2(HECW2):c.2725T>A (p.Ser909Thr)	not provided [RCV004812190]	uncertain significance	2	196306577	196306577	Human		name
12740657	CV359336	single nucleotide variant	NM_001348768.2(HECW2):c.1887C>G (p.Ser629Arg)	not provided [RCV001753848]\|not specified [RCV000412716]	uncertain significance\|no classifications from unflagged records	2	196319003	196319003	Human		name
12849181	CV366286	single nucleotide variant	NM_001348768.2(HECW2):c.2581C>T (p.Arg861Trp)	not provided [RCV000425494]	likely pathogenic	2	196307939	196307939	Human		name
597690377	CV3689103	single nucleotide variant	NM_001348768.2(HECW2):c.1691G>A (p.Ser564Asn)	Inborn genetic diseases [RCV004985693]	likely benign	2	196319199	196319199	Human	1	name
597690386	CV3689104	single nucleotide variant	NM_001348768.2(HECW2):c.2600G>A (p.Arg867His)	Inborn genetic diseases [RCV004985694]	uncertain significance	2	196307219	196307219	Human	1	name
597690394	CV3689105	single nucleotide variant	NM_001348768.2(HECW2):c.2171C>T (p.Ser724Leu)	Inborn genetic diseases [RCV004985695]	likely benign	2	196318719	196318719	Human	1	name
597690397	CV3689109	single nucleotide variant	NM_001348768.2(HECW2):c.2786A>G (p.Glu929Gly)	Inborn genetic diseases [RCV004985696]	uncertain significance	2	196306516	196306516	Human	1	name
597719323	CV3733499	single nucleotide variant	NM_001348768.2(HECW2):c.1385A>T (p.His462Leu)	not provided [RCV005052689]	uncertain significance	2	196319505	196319505	Human		name
597831569	CV3863854	single nucleotide variant	NM_001348768.2(HECW2):c.2398A>C (p.Ser800Arg)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV005208268]	uncertain significance	2	196317310	196317310	Human	1	name
598225916	CV3895700	single nucleotide variant	NM_001348768.2(HECW2):c.1301C>T (p.Ala434Val)	Complex neurodevelopmental disorder [RCV005362015]	likely benign	2	196319589	196319589	Human	1	name
598267348	CV3968024	single nucleotide variant	NM_001348768.2(HECW2):c.2326G>T (p.Gly776Cys)	Inborn genetic diseases [RCV005349493]	uncertain significance	2	196318564	196318564	Human	1	name
598267350	CV3968025	single nucleotide variant	NM_001348768.2(HECW2):c.1733G>C (p.Ser578Thr)	Inborn genetic diseases [RCV005349494]	likely benign	2	196319157	196319157	Human	1	name
598247275	CV3968026	single nucleotide variant	NM_001348768.2(HECW2):c.2942C>T (p.Ala981Val)	Inborn genetic diseases [RCV005345274]	likely benign	2	196292623	196292623	Human	1	name
598247284	CV3968029	single nucleotide variant	NM_001348768.2(HECW2):c.1934G>A (p.Cys645Tyr)	Inborn genetic diseases [RCV005345276]	uncertain significance	2	196318956	196318956	Human	1	name
598247294	CV3968032	single nucleotide variant	NM_001348768.2(HECW2):c.2699G>A (p.Arg900Gln)	Inborn genetic diseases [RCV005345278]	uncertain significance	2	196306603	196306603	Human	1	name
598267360	CV3968033	single nucleotide variant	NM_001348768.2(HECW2):c.2266G>C (p.Glu756Gln)	Inborn genetic diseases [RCV005349497]	uncertain significance	2	196318624	196318624	Human	1	name
617149552	CV4017577	single nucleotide variant	NM_001348768.2(HECW2):c.2449A>G (p.Ile817Val)	not provided [RCV005417235]	uncertain significance	2	196308071	196308071	Human		name
13485718	CV443127	single nucleotide variant	NM_001348768.2(HECW2):c.1160G>A (p.Arg387Lys)	not provided [RCV000522687]\|not specified [RCV004800442]	likely benign\|uncertain significance	2	196319730	196319730	Human		name
13489785	CV443128	single nucleotide variant	NM_001348768.2(HECW2):c.1069A>G (p.Met357Val)	not provided [RCV000523999]	uncertain significance	2	196319821	196319821	Human		name
13521512	CV495141	single nucleotide variant	NM_001348768.2(HECW2):c.1774C>T (p.Arg592Ter)	not provided [RCV000599511]	uncertain significance	2	196319116	196319116	Human		name
13530635	CV511381	single nucleotide variant	NM_001348768.2(HECW2):c.2585G>A (p.Arg862Gln)	Inborn genetic diseases [RCV000622649]\|not provided [RCV001548090]	pathogenic\|uncertain significance	2	196307935	196307935	Human	1	name
13531337	CV511382	single nucleotide variant	NM_001348768.2(HECW2):c.1091G>T (p.Ser364Ile)	Inborn genetic diseases [RCV000623251]\|Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV002483747]	uncertain significance	2	196319799	196319799	Human	2	name
13592737	CV513521	single nucleotide variant	NM_001348768.2(HECW2):c.2741C>T (p.Thr914Met)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV000626283]	uncertain significance	2	196306561	196306561	Human	1	name
13797730	CV551282	single nucleotide variant	NM_001348768.2(HECW2):c.2167G>C (p.Glu723Gln)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV000678365]\|not provided [RCV001766457]	uncertain significance	2	196318723	196318723	Human	1	name
14697891	CV623252	single nucleotide variant	NM_001348768.2(HECW2):c.2230G>A (p.Glu744Lys)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV000786911]	uncertain significance	2	196318660	196318660	Human	1	name
15179488	CV717987	single nucleotide variant	NM_001348768.2(HECW2):c.2090C>T (p.Ser697Leu)	HECW2-related disorder [RCV003918537]\|Inborn genetic diseases [RCV002548384]\|not provided [RCV000973922]	likely benign	2	196318800	196318800	Human	2	name , trait , alternate_id
15107678	CV729847	single nucleotide variant	NM_001348768.2(HECW2):c.1250A>G (p.Asn417Ser)	HECW2-related disorder [RCV003920797]\|Inborn genetic diseases [RCV004028429]\|not provided [RCV000893526]	benign\|likely benign	2	196319640	196319640	Human	2	name , trait , alternate_id
15104161	CV729848	single nucleotide variant	NM_001348768.2(HECW2):c.1551A>C (p.Glu517Asp)	Inborn genetic diseases [RCV005348244]\|not provided [RCV000892830]	benign\|uncertain significance	2	196319339	196319339	Human	1	name
15108276	CV729849	single nucleotide variant	NM_001348768.2(HECW2):c.1856C>G (p.Pro619Arg)	HECW2-related disorder [RCV003940745]\|not provided [RCV000893638]	benign\|likely benign	2	196319034	196319034	Human	1	name , trait , alternate_id
15157113	CV729851	single nucleotide variant	NM_001348768.2(HECW2):c.2239G>C (p.Ala747Pro)	HECW2-related disorder [RCV003955813]\|Inborn genetic diseases [RCV002536826]\|not provided [RCV000880760]	benign\|likely benign	2	196318651	196318651	Human	2	name , trait , alternate_id
15157106	CV729852	single nucleotide variant	NM_001348768.2(HECW2):c.2240C>T (p.Ala747Val)	Inborn genetic diseases [RCV002536825]\|not provided [RCV000880759]	benign\|likely benign	2	196318650	196318650	Human	1	name
15187620	CV743595	single nucleotide variant	NM_001348768.2(HECW2):c.1012A>T (p.Ile338Leu)	not provided [RCV000909139]	benign	2	196319878	196319878	Human		name
15165685	CV743596	single nucleotide variant	NM_001348768.2(HECW2):c.1277A>G (p.Asn426Ser)	not provided [RCV000904277]	benign	2	196319613	196319613	Human		name
15159498	CV743598	single nucleotide variant	NM_001348768.2(HECW2):c.2220G>C (p.Arg740Ser)	not provided [RCV000902951]	benign\|likely benign	2	196318670	196318670	Human		name
15173487	CV743599	single nucleotide variant	NM_001348768.2(HECW2):c.2282G>A (p.Gly761Glu)	not provided [RCV000905852]	benign\|likely benign	2	196318608	196318608	Human		name
15129981	CV758755	single nucleotide variant	NM_001348768.2(HECW2):c.1217C>T (p.Thr406Ile)	not provided [RCV000919924]	benign	2	196319673	196319673	Human		name
15140846	CV758756	single nucleotide variant	NM_001348768.2(HECW2):c.1976G>A (p.Arg659Gln)	not provided [RCV000921743]	benign\|likely benign	2	196318914	196318914	Human		name
26890664	CV850686	single nucleotide variant	NM_001348768.2(HECW2):c.1745C>A (p.Thr582Lys)	Inborn genetic diseases [RCV001266573]\|not provided [RCV001059571]	conflicting interpretations of pathogenicity\|uncertain significance	2	196319145	196319145	Human	1	name
26920694	CV850687	single nucleotide variant	NM_001348768.2(HECW2):c.2812C>T (p.Pro938Ser)	not provided [RCV001048324]	uncertain significance	2	196306490	196306490	Human		name
26903777	CV858588	single nucleotide variant	NM_001348768.2(HECW2):c.1072C>T (p.Pro358Ser)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001089977]	uncertain significance	2	196319818	196319818	Human	1	name
38477334	CV929875	single nucleotide variant	NM_001348768.2(HECW2):c.1706G>T (p.Gly569Val)	not provided [RCV001216093]	uncertain significance	2	196319184	196319184	Human		name
38596856	CV964009	single nucleotide variant	NM_001348768.2(HECW2):c.2128G>T (p.Val710Leu)	Intellectual disability [RCV001252513]	likely benign	2	196318762	196318762	Human	2	name
40889561	CV972634	single nucleotide variant	NM_001348768.2(HECW2):c.1496A>G (p.Asp499Gly)	Neurodevelopmental abnormality [RCV001264654]	likely benign	2	196319394	196319394	Human	2	name
40887437	CV973268	single nucleotide variant	NM_001348768.2(HECW2):c.2135T>A (p.Val712Glu)	Inborn genetic diseases [RCV001267029]	uncertain significance	2	196318755	196318755	Human	1	name
126746251	CV1015390	single nucleotide variant	NM_001348768.2(HECW2):c.4507A>G (p.Thr1503Ala)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001328402]	likely pathogenic	2	196215965	196215965	Human	1	name
126746249	CV1015391	single nucleotide variant	NM_001348768.2(HECW2):c.4355G>T (p.Gly1452Val)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001328401]	likely pathogenic	2	196220092	196220092	Human	1	name
126746247	CV1015392	single nucleotide variant	NM_001348768.2(HECW2):c.4333G>C (p.Glu1445Gln)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001328400]	pathogenic	2	196220114	196220114	Human	1	name
126746242	CV1015393	single nucleotide variant	NM_001348768.2(HECW2):c.4323T>G (p.Phe1441Leu)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001328399]	likely pathogenic	2	196220124	196220124	Human	1	name
126746235	CV1015394	single nucleotide variant	NM_001348768.2(HECW2):c.3597C>A (p.Asn1199Lys)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001328398]\|not provided [RCV001586130]	pathogenic\|likely pathogenic	2	196242137	196242137	Human	1	name
126746231	CV1015395	single nucleotide variant	NM_001348768.2(HECW2):c.3175C>T (p.Pro1059Ser)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001328397]	uncertain significance	2	196274084	196274084	Human	1	name
126739363	CV1015943	single nucleotide variant	NM_001348768.2(HECW2):c.4706T>C (p.Phe1569Ser)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001329169]	uncertain significance	2	196201290	196201290	Human	1	name
127261634	CV1087309	single nucleotide variant	NM_001348768.2(HECW2):c.4642C>T (p.Pro1548Ser)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001420532]\|not provided [RCV003438784]	likely benign\|uncertain significance	2	196201354	196201354	Human	1	name
150529170	CV1288713	single nucleotide variant	NM_001348768.2(HECW2):c.3949G>A (p.Ala1317Thr)	not provided [RCV001727181]	uncertain significance	2	196225839	196225839	Human		name
150551312	CV1292638	single nucleotide variant	NM_001348768.2(HECW2):c.3137T>C (p.Val1046Ala)	not provided [RCV001754245]	uncertain significance	2	196274122	196274122	Human		name
150551386	CV1292681	single nucleotide variant	NM_001348768.2(HECW2):c.3694C>A (p.Gln1232Lys)	not provided [RCV001754289]	uncertain significance	2	196240519	196240519	Human		name
150530764	CV1293528	single nucleotide variant	NM_001348768.2(HECW2):c.3683A>G (p.Asp1228Gly)	not provided [RCV001756749]	uncertain significance	2	196240530	196240530	Human		name
150554326	CV1295748	single nucleotide variant	NM_001348768.2(HECW2):c.3939C>G (p.Ile1313Met)	not provided [RCV001770978]	uncertain significance	2	196225849	196225849	Human		name
150556736	CV1305664	single nucleotide variant	NM_001348768.2(HECW2):c.3041T>C (p.Ile1014Thr)	not provided [RCV001774654]	uncertain significance	2	196278622	196278622	Human		name
150557112	CV1310450	single nucleotide variant	NM_001348768.2(HECW2):c.4343T>C (p.Leu1448Ser)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001775378]	likely pathogenic	2	196220104	196220104	Human	1	name
150532916	CV1310929	single nucleotide variant	NM_001348768.2(HECW2):c.3584C>G (p.Ala1195Gly)	not provided [RCV001776663]	uncertain significance	2	196242150	196242150	Human		name
151233371	CV1317058	single nucleotide variant	NM_001348768.2(HECW2):c.3401A>G (p.Asp1134Gly)	not provided [RCV001786879]	uncertain significance	2	196257841	196257841	Human		name
151716856	CV1334776	single nucleotide variant	NM_001348768.2(HECW2):c.4477C>T (p.Arg1493Ter)	Developmental disorder [RCV001843732]	uncertain significance	2	196217025	196217025	Human	1	name
153000394	CV1683016	single nucleotide variant	NM_001348768.2(HECW2):c.4328C>T (p.Ala1443Val)	See cases [RCV002253026]	uncertain significance	2	196220119	196220119	Human		name
153302442	CV1688230	single nucleotide variant	NM_001348768.2(HECW2):c.3568A>G (p.Lys1190Glu)	not provided [RCV002265456]	uncertain significance	2	196242166	196242166	Human		name
155797050	CV1863150	single nucleotide variant	NM_001348768.2(HECW2):c.4510T>G (p.Ser1504Ala)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV002470424]	likely pathogenic	2	196215962	196215962	Human	1	name
155797051	CV1863151	single nucleotide variant	NM_001348768.2(HECW2):c.3355C>T (p.Arg1119Ter)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV002470425]\|not provided [RCV004763426]	uncertain significance	2	196257887	196257887	Human	1	name
155797125	CV1863187	single nucleotide variant	NM_001348768.2(HECW2):c.3998A>G (p.Tyr1333Cys)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV002470461]	uncertain significance	2	196225790	196225790	Human	1	name
155797414	CV1863317	single nucleotide variant	NM_001348768.2(HECW2):c.3454C>G (p.Pro1152Ala)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV002470591]	uncertain significance	2	196253995	196253995	Human	1	name
156054984	CV2192647	single nucleotide variant	NM_001348768.2(HECW2):c.3203T>C (p.Val1068Ala)	not provided [RCV003037044]	uncertain significance	2	196274056	196274056	Human		name
156382211	CV2227243	single nucleotide variant	NM_001348768.2(HECW2):c.3152G>A (p.Arg1051Gln)	Inborn genetic diseases [RCV002722731]\|Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003135227]\|not specified [RCV003404149]	likely benign\|uncertain significance	2	196274107	196274107	Human	2	name
156063852	CV2228846	single nucleotide variant	NM_001348768.2(HECW2):c.3704G>C (p.Gly1235Ala)	Inborn genetic diseases [RCV002736969]	uncertain significance	2	196240509	196240509	Human	1	name
156101339	CV2313477	single nucleotide variant	NM_001348768.2(HECW2):c.4280G>A (p.Arg1427His)	Inborn genetic diseases [RCV002888649]\|Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003135253]	likely benign\|uncertain significance	2	196220808	196220808	Human	2	name
156211154	CV2314481	single nucleotide variant	NM_001348768.2(HECW2):c.3505G>T (p.Val1169Leu)	Inborn genetic diseases [RCV002893777]	uncertain significance	2	196253944	196253944	Human	1	name
243059963	CV2407657	single nucleotide variant	NM_001348768.2(HECW2):c.3288A>T (p.Glu1096Asp)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003135544]	uncertain significance	2	196271240	196271240	Human	1	name
243059965	CV2407661	single nucleotide variant	NM_001348768.2(HECW2):c.3556C>T (p.Pro1186Ser)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003135546]	uncertain significance	2	196242178	196242178	Human	1	name
243052791	CV2412905	single nucleotide variant	NM_001348768.2(HECW2):c.3083C>T (p.Ala1028Val)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003131105]	uncertain significance	2	196278580	196278580	Human	1	name
11351338	CV243871	single nucleotide variant	NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV000415531]\|not provided [RCV000509485]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	2	196220113	196220113	Human	1	name
11352162	CV243874	single nucleotide variant	NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln)	HECW2-related disorder [RCV003409363]\|Inborn genetic diseases [RCV001266818]\|Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV000415526]\|not provided [RCV000505794]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	196242162	196242162	Human	2	name , trait , alternate_id
11351558	CV243876	single nucleotide variant	NM_001348768.2(HECW2):c.3577T>G (p.Phe1193Val)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV000415573]	pathogenic\|likely pathogenic	2	196242157	196242157	Human	1	name
11351608	CV243879	single nucleotide variant	NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp)	HECW2-related disorder [RCV003417841]\|Inborn genetic diseases [RCV001265941]\|Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV000415612]\|Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies [RCV0 ... (more) 02508929]\|not provided [RCV004696888]	pathogenic\|not provided	2	196225800	196225800	Human	3	name , trait , alternate_id
329352571	CV2476837	single nucleotide variant	NM_001348768.2(HECW2):c.4006C>T (p.Leu1336Phe)	not provided [RCV003223069]	uncertain significance	2	196225782	196225782	Human		name
11541278	CV248549	single nucleotide variant	NM_001348768.2(HECW2):c.3394G>A (p.Asp1132Asn)	Oromandibular-limb hypogenesis spectrum [RCV000240249]	likely benign	2	196257848	196257848	Human	1	name
329846709	CV2534171	single nucleotide variant	NM_001348768.2(HECW2):c.3529G>C (p.Gly1177Arg)	not provided [RCV003228378]	uncertain significance	2	196253920	196253920	Human		name
329953467	CV2668442	single nucleotide variant	NM_001348768.2(HECW2):c.3700A>G (p.Met1234Val)	not provided [RCV003230095]	uncertain significance	2	196240513	196240513	Human		name
329952869	CV2670212	single nucleotide variant	NM_001348768.2(HECW2):c.3956T>C (p.Ile1319Thr)	not provided [RCV003233422]	uncertain significance	2	196225832	196225832	Human		name
401755266	CV2682431	single nucleotide variant	NM_001348768.2(HECW2):c.3391A>G (p.Ser1131Gly)	Inborn genetic diseases [RCV003255232]	likely benign	2	196257851	196257851	Human	1	name
401754283	CV2685221	single nucleotide variant	NM_001348768.2(HECW2):c.4223G>C (p.Arg1408Thr)	Inborn genetic diseases [RCV003254946]\|not provided [RCV003883970]	likely benign	2	196220865	196220865	Human	1	name
401770317	CV2711074	single nucleotide variant	NM_001348768.2(HECW2):c.3086T>C (p.Leu1029Pro)	Inborn genetic diseases [RCV003261034]	uncertain significance	2	196278577	196278577	Human	1	name
401719946	CV2737156	single nucleotide variant	NM_001348768.2(HECW2):c.4129G>A (p.Glu1377Lys)	not provided [RCV003314095]	uncertain significance	2	196222228	196222228	Human		name
401739933	CV2738648	single nucleotide variant	NM_001348768.2(HECW2):c.3164C>T (p.Pro1055Leu)	not provided [RCV003318042]	uncertain significance	2	196274095	196274095	Human		name
401919852	CV2796441	single nucleotide variant	NM_001348768.2(HECW2):c.3550C>T (p.Arg1184Trp)	HECW2-related disorder [RCV003402477]	uncertain significance	2	196242184	196242184	Human		name , trait , alternate_id
401907191	CV2800139	single nucleotide variant	NM_001348768.2(HECW2):c.3752T>G (p.Val1251Gly)	HECW2-related disorder [RCV003397274]	uncertain significance	2	196240461	196240461	Human		name , trait , alternate_id
401917396	CV2819456	single nucleotide variant	NM_001348768.2(HECW2):c.4355G>C (p.Gly1452Ala)	not provided [RCV003429479]	likely pathogenic	2	196220092	196220092	Human		name
405869421	CV2831989	single nucleotide variant	NM_001348768.2(HECW2):c.3302G>A (p.Arg1101His)	not provided [RCV004573002]	uncertain significance	2	196271226	196271226	Human		name
401946374	CV2839717	single nucleotide variant	NM_001348768.2(HECW2):c.3371C>A (p.Pro1124Gln)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV003459003]	uncertain significance	2	196257871	196257871	Human	1	name
401964025	CV2843464	single nucleotide variant	NM_001348768.2(HECW2):c.3752T>C (p.Val1251Ala)	not specified [RCV003479806]	uncertain significance	2	196240461	196240461	Human		name
405259834	CV3186440	single nucleotide variant	NM_001348768.2(HECW2):c.4435C>T (p.Arg1479Trp)	not provided [RCV003884199]	likely benign	2	196217067	196217067	Human		name
405270235	CV3187657	single nucleotide variant	NM_001348768.2(HECW2):c.3451C>T (p.Pro1151Ser)	not provided [RCV003887741]	uncertain significance	2	196253998	196253998	Human		name
405289476	CV3218300	single nucleotide variant	NM_001348768.2(HECW2):c.4186C>A (p.Pro1396Thr)	HECW2-related disorder [RCV003983702]\|not provided [RCV004697330]	uncertain significance	2	196220902	196220902	Human	1	name , trait , alternate_id
405797396	CV3263059	single nucleotide variant	NM_001348768.2(HECW2):c.3730A>C (p.Asn1244His)	Inborn genetic diseases [RCV004401886]	uncertain significance	2	196240483	196240483	Human	1	name
405797399	CV3263060	single nucleotide variant	NM_001348768.2(HECW2):c.4447G>A (p.Ala1483Thr)	Inborn genetic diseases [RCV004401887]	uncertain significance	2	196217055	196217055	Human	1	name
405872347	CV3398265	single nucleotide variant	NM_001348768.2(HECW2):c.4610C>T (p.Ala1537Val)	not provided [RCV004575266]	likely benign	2	196201386	196201386	Human		name
407521209	CV3440457	single nucleotide variant	NM_001348768.2(HECW2):c.3539G>A (p.Arg1180His)	Inborn genetic diseases [RCV004630291]	uncertain significance	2	196242195	196242195	Human	1	name
407521211	CV3440458	single nucleotide variant	NM_001348768.2(HECW2):c.3665G>A (p.Arg1222Lys)	Inborn genetic diseases [RCV004630292]	uncertain significance	2	196240548	196240548	Human	1	name
407521221	CV3440464	single nucleotide variant	NM_001348768.2(HECW2):c.4460G>T (p.Arg1487Ile)	Inborn genetic diseases [RCV004630296]	uncertain significance	2	196217042	196217042	Human	1	name
407472257	CV3495238	single nucleotide variant	NM_001348768.2(HECW2):c.4097A>T (p.His1366Leu)	not specified [RCV004689513]	uncertain significance	2	196222260	196222260	Human		name
408391410	CV3523179	single nucleotide variant	NM_001348768.2(HECW2):c.3896T>A (p.Phe1299Tyr)	not provided [RCV004770551]	uncertain significance	2	196228123	196228123	Human		name
408381360	CV3523844	single nucleotide variant	NM_001348768.2(HECW2):c.3596A>G (p.Asn1199Ser)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV005023700]\|not provided [RCV004766242]	likely pathogenic	2	196242138	196242138	Human	1	name
596943132	CV3542796	single nucleotide variant	NM_001348768.2(HECW2):c.4406G>T (p.Gly1469Val)	not provided [RCV004798380]	uncertain significance	2	196220041	196220041	Human		name
596944477	CV3543214	single nucleotide variant	NM_001348768.2(HECW2):c.4048G>T (p.Asp1350Tyr)	Neurodevelopmental disorder with hypotonia [RCV004799086]	likely pathogenic	2	196222309	196222309	Human		name
596945959	CV3548121	single nucleotide variant	NM_001348768.2(HECW2):c.4590A>T (p.Lys1530Asn)	not provided [RCV004809452]	uncertain significance	2	196215882	196215882	Human		name
596938508	CV3549584	single nucleotide variant	NM_001348768.2(HECW2):c.3823A>G (p.Asn1275Asp)	not provided [RCV004812624]	uncertain significance	2	196228196	196228196	Human		name
597632123	CV3552784	single nucleotide variant	NM_001348768.2(HECW2):c.4486T>G (p.Leu1496Val)	not provided [RCV004823612]	uncertain significance	2	196217016	196217016	Human		name
12850143	CV364031	single nucleotide variant	NM_001348768.2(HECW2):c.4436G>A (p.Arg1479Gln)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV004725211]\|not provided [RCV000442124]	likely pathogenic\|uncertain significance	2	196217066	196217066	Human	1	name
597663539	CV3689102	single nucleotide variant	NM_001348768.2(HECW2):c.3701T>C (p.Met1234Thr)	Inborn genetic diseases [RCV004977920]	uncertain significance	2	196240512	196240512	Human	1	name
597656848	CV3731616	single nucleotide variant	NM_001348768.2(HECW2):c.3941T>A (p.Leu1314His)	not provided [RCV005001797]	uncertain significance	2	196225847	196225847	Human		name
597831613	CV3863875	single nucleotide variant	NM_001348768.2(HECW2):c.3280A>G (p.Ile1094Val)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV005208289]	uncertain significance	2	196271248	196271248	Human	1	name
597845749	CV3880498	single nucleotide variant	NM_001348768.2(HECW2):c.4651T>G (p.Ser1551Ala)	not provided [RCV005227386]	uncertain significance	2	196201345	196201345	Human		name
598122394	CV3889843	single nucleotide variant	NM_001348768.2(HECW2):c.4414C>T (p.His1472Tyr)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV005247947]	uncertain significance	2	196217088	196217088	Human	1	name
598122943	CV3890093	single nucleotide variant	NM_001348768.2(HECW2):c.3615G>T (p.Glu1205Asp)	not provided [RCV005250612]	uncertain significance	2	196242119	196242119	Human		name
598227430	CV3892444	single nucleotide variant	NM_001348768.2(HECW2):c.4690G>A (p.Glu1564Lys)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV005254279]	likely pathogenic	2	196201306	196201306	Human	1	name
598239079	CV3893676	single nucleotide variant	NM_001348768.2(HECW2):c.4391A>G (p.Asn1464Ser)	not provided [RCV005256409]	uncertain significance	2	196220056	196220056	Human		name
598233410	CV3893687	single nucleotide variant	NM_001348768.2(HECW2):c.3566A>G (p.Tyr1189Cys)	not provided [RCV005256420]	uncertain significance	2	196242168	196242168	Human		name
598159818	CV3897165	single nucleotide variant	NM_001348768.2(HECW2):c.3130G>A (p.Gly1044Ser)	not provided [RCV005368139]	uncertain significance	2	196278533	196278533	Human		name
598247279	CV3968028	single nucleotide variant	NM_001348768.2(HECW2):c.4105C>G (p.Leu1369Val)	Inborn genetic diseases [RCV005345275]	uncertain significance	2	196222252	196222252	Human	1	name
598267357	CV3968031	single nucleotide variant	NM_001348768.2(HECW2):c.3792G>C (p.Glu1264Asp)	Inborn genetic diseases [RCV005349496]	uncertain significance	2	196228227	196228227	Human	1	name
616933551	CV4011567	single nucleotide variant	NM_001348768.2(HECW2):c.3197A>G (p.Asn1066Ser)	not specified [RCV005407648]	uncertain significance	2	196274062	196274062	Human		name
13488593	CV443126	single nucleotide variant	NM_001348768.2(HECW2):c.4358C>T (p.Thr1453Ile)	not provided [RCV000523616]	uncertain significance	2	196220089	196220089	Human		name
13531327	CV511377	single nucleotide variant	NM_001348768.2(HECW2):c.4714G>A (p.Glu1572Lys)	Inborn genetic diseases [RCV000623244]	likely pathogenic	2	196201282	196201282	Human	1	name
13532378	CV511378	single nucleotide variant	NM_001348768.2(HECW2):c.4485G>T (p.Arg1495Ser)	Inborn genetic diseases [RCV000624143]	likely pathogenic	2	196217017	196217017	Human	1	name
13531111	CV511379	single nucleotide variant	NM_001348768.2(HECW2):c.3989G>A (p.Arg1330Gln)	Inborn genetic diseases [RCV000623052]	likely pathogenic	2	196225799	196225799	Human	1	name
13532161	CV511380	single nucleotide variant	NM_001348768.2(HECW2):c.3583G>C (p.Ala1195Pro)	Inborn genetic diseases [RCV000623973]	likely pathogenic	2	196242151	196242151	Human	1	name
14703033	CV654146	single nucleotide variant	NM_001348768.2(HECW2):c.4471G>C (p.Glu1491Gln)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV000825013]	likely pathogenic	2	196217031	196217031	Human	1	name
15202429	CV729853	single nucleotide variant	NM_001348768.2(HECW2):c.4181A>G (p.Asn1394Ser)	HECW2-related disorder [RCV003910594]\|Inborn genetic diseases [RCV004028406]\|Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV002495394]\|not provided [RCV000891470]	benign\|likely benign	2	196220907	196220907	Human	2	name , trait , alternate_id
15126103	CV743602	single nucleotide variant	NM_001348768.2(HECW2):c.3169G>A (p.Val1057Ile)	not provided [RCV000896877]	benign	2	196274090	196274090	Human		name
21070988	CV790143	single nucleotide variant	NM_001348768.2(HECW2):c.4343T>G (p.Leu1448Trp)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV000986963]	likely pathogenic	2	196220104	196220104	Human	1	name
21067965	CV795107	single nucleotide variant	NM_001348768.2(HECW2):c.3571C>T (p.Arg1191Trp)	not provided [RCV000997636]	likely pathogenic\|uncertain significance	2	196242163	196242163	Human		name
21074794	CV798490	single nucleotide variant	NM_001348768.2(HECW2):c.4321T>C (p.Phe1441Leu)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV000995561]	likely pathogenic	2	196220126	196220126	Human	1	name
21074795	CV798491	single nucleotide variant	NM_001348768.2(HECW2):c.3829T>C (p.Tyr1277His)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV000995562]	likely pathogenic	2	196228190	196228190	Human	1	name
25318986	CV816442	single nucleotide variant	NM_001348768.2(HECW2):c.4550G>A (p.Ser1517Asn)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001028018]	uncertain significance	2	196215922	196215922	Human	1	name
26922228	CV850688	single nucleotide variant	NM_001348768.2(HECW2):c.4511C>A (p.Ser1504Tyr)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001328403]\|not provided [RCV001051742]	likely pathogenic	2	196215961	196215961	Human	1	name
38596857	CV964010	single nucleotide variant	NM_001348768.2(HECW2):c.3980T>C (p.Phe1327Ser)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001252514]	likely pathogenic	2	196225808	196225808	Human	1	name
40814577	CV970730	single nucleotide variant	NM_001348768.2(HECW2):c.3235G>A (p.Val1079Met)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001262129]	uncertain significance	2	196274024	196274024	Human	1	name
40886525	CV973099	single nucleotide variant	NM_001348768.2(HECW2):c.3587A>G (p.Lys1196Arg)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001265646]	pathogenic	2	196242147	196242147	Human	1	name
40886524	CV973100	single nucleotide variant	NM_001348768.2(HECW2):c.3542C>G (p.Ala1181Gly)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001265645]	likely pathogenic	2	196242192	196242192	Human	1	name
40887249	CV973267	single nucleotide variant	NM_001348768.2(HECW2):c.4514G>C (p.Ser1505Thr)	Inborn genetic diseases [RCV001266736]\|not provided [RCV004727063]	pathogenic\|likely pathogenic	2	196215958	196215958	Human	1	name
40903504	CV977183	single nucleotide variant	NM_001348768.2(HECW2):c.3551G>C (p.Arg1184Pro)	HECW2-related neurodevelopmental disorder [RCV001270806]	uncertain significance	2	196242183	196242183	Human		name , trait
126763184	CV999994	single nucleotide variant	NM_001348768.2(HECW2):c.4331G>C (p.Arg1444Thr)	Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001310246]\|not provided [RCV004822351]	pathogenic\|likely pathogenic	2	196220116	196220116	Human	1	name
11541288	CV248550	microsatellite	NM_001348768.2(HECW2):c.2264AAG[2] (p.Glu757del)	Oromandibular-limb hypogenesis spectrum [RCV000240556]	likely benign	2	196318618	196318620	Human		name
15111078	CV717986	microsatellite	NM_001348768.2(HECW2):c.1341GAG[1] (p.Arg448del)	HECW2-related disorder [RCV003978367]\|Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV005231997]\|not provided [RCV000961032]	benign\|likely benign	2	196319544	196319546	Human		name , trait , alternate_id
150554959	CV1309949	deletion	NM_001348768.2(HECW2):c.2520_2521del (p.Pro842fs)	not provided [RCV003237688]	uncertain significance	2	196307999	196308000	Human		name
597972472	CV3790327	deletion	NM_001348768.2(HECW2):c.1337_1338del (p.Lys446fs)	not provided [RCV005142750]	uncertain significance	2	196319552	196319553	Human		name
11541273	CV248551	deletion	NM_001348768.2(HECW2):c.1249_1251del (p.Asn417del)	HECW2-related disorder [RCV003930024]\|Oromandibular-limb hypogenesis spectrum [RCV000240078]	likely benign	2	196319639	196319641	Human	2	name , trait , alternate_id
596923052	CV3530233	deletion	NM_001348768.2(HECW2):c.3438_3440del (p.Ile1146del)	not provided [RCV004776832]	uncertain significance	2	196254009	196254011	Human		name
155268579	CV1705406	microsatellite	NM_001348768.2(HECW2):c.2031GGA[1] (p.Glu679_Glu680del)	not provided [RCV002286011]	uncertain significance	2	196318851	196318856	Human		name
329848129	CV2667748	deletion	NM_001348768.2(HECW2):c.2763del (p.Pro921_Val922insTer)	not provided [RCV003229315]	uncertain significance	2	196306539	196306539	Human		name

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