Pacs1 Variant Search Result - Rat Genome Database

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902 records found for search term Pacs1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405273192	CV3197696	single nucleotide variant	NM_018026.4(PACS1):c.-2C>T	PACS1-related disorder [RCV003901663]	likely benign	11	66070485	66070485	Human		name , trait , alternate_id
150536370	CV1293016	single nucleotide variant	NM_018026.4(PACS1):c.*39A>T	not provided [RCV001762802]	benign	11	66243319	66243319	Human		name
150422242	CV1194529	single nucleotide variant	NM_018026.4(PACS1):c.*255T>G	not provided [RCV001570936]	likely benign	11	66243535	66243535	Human		name
150330829	CV1169470	single nucleotide variant	NM_018026.4(PACS1):c.535-5C>T	Inborn genetic diseases [RCV002343716]\|Schuurs-Hoeijmakers syndrome [RCV002071926]\|not provided [RCV001536156]\|not specified [RCV001821856]	likely benign	11	66211129	66211129	Human	2	name
152083802	CV1576895	single nucleotide variant	NM_018026.4(PACS1):c.978+8T>A	Schuurs-Hoeijmakers syndrome [RCV002193367]	likely benign	11	66216783	66216783	Human	1	name
152030897	CV1580918	single nucleotide variant	NM_018026.4(PACS1):c.534+3G>A	Schuurs-Hoeijmakers syndrome [RCV002086246]	benign	11	66210454	66210454	Human	1	name
152049620	CV1585581	single nucleotide variant	NM_018026.4(PACS1):c.806-7G>A	Schuurs-Hoeijmakers syndrome [RCV002145518]	likely benign	11	66216513	66216513	Human	1	name
155266545	CV1699114	single nucleotide variant	NM_018026.4(PACS1):c.357-4C>T	Inborn genetic diseases [RCV002454612]\|Schuurs-Hoeijmakers syndrome [RCV003096346]\|not specified [RCV002282909]	likely benign\|uncertain significance	11	66193482	66193482	Human	2	name
155723770	CV1824778	single nucleotide variant	NM_018026.4(PACS1):c.897+5C>T	Inborn genetic diseases [RCV002449914]	uncertain significance	11	66216616	66216616	Human	1	name
156052619	CV1878694	single nucleotide variant	NM_018026.4(PACS1):c.661-5C>T	Schuurs-Hoeijmakers syndrome [RCV003053055]	likely benign	11	66216114	66216114	Human	1	name
156400354	CV1892819	single nucleotide variant	NM_018026.4(PACS1):c.661-6T>G	Schuurs-Hoeijmakers syndrome [RCV003069075]	likely benign	11	66216113	66216113	Human	1	name
156362271	CV2016762	deletion	NM_018026.4(PACS1):c.661-6del	Schuurs-Hoeijmakers syndrome [RCV002720945]	likely benign	11	66216113	66216113	Human	1	name
156180237	CV2023309	single nucleotide variant	NM_018026.4(PACS1):c.898-7C>A	Schuurs-Hoeijmakers syndrome [RCV002765593]	likely benign	11	66216688	66216688	Human	1	name
156087716	CV2080123	single nucleotide variant	NM_018026.4(PACS1):c.805+9C>G	Schuurs-Hoeijmakers syndrome [RCV002847603]	uncertain significance	11	66216272	66216272	Human	1	name
156021132	CV2082707	single nucleotide variant	NM_018026.4(PACS1):c.979-8C>G	Schuurs-Hoeijmakers syndrome [RCV002884962]	uncertain significance	11	66219738	66219738	Human	1	name
156145634	CV2118086	single nucleotide variant	NM_018026.4(PACS1):c.978+6C>T	Schuurs-Hoeijmakers syndrome [RCV002928723]	uncertain significance	11	66216781	66216781	Human	1	name
156259463	CV2138528	single nucleotide variant	NM_018026.4(PACS1):c.806-3C>T	Schuurs-Hoeijmakers syndrome [RCV002988414]	uncertain significance	11	66216517	66216517	Human	1	name
155923077	CV2148591	single nucleotide variant	NM_018026.4(PACS1):c.444+9G>A	Schuurs-Hoeijmakers syndrome [RCV003013281]	likely benign\|conflicting interpretations of pathogenicity	11	66193582	66193582	Human	1	name
156179214	CV2162542	single nucleotide variant	NM_018026.4(PACS1):c.898-6A>G	Schuurs-Hoeijmakers syndrome [RCV003023773]	likely benign	11	66216689	66216689	Human	1	name
405154152	CV2886672	single nucleotide variant	NM_018026.4(PACS1):c.534+7C>T	Schuurs-Hoeijmakers syndrome [RCV003539169]	likely benign	11	66210458	66210458	Human	1	name
405147072	CV2922652	single nucleotide variant	NM_018026.4(PACS1):c.444+6T>A	Schuurs-Hoeijmakers syndrome [RCV003538121]	uncertain significance	11	66193579	66193579	Human	1	name
405013892	CV2958851	single nucleotide variant	NM_018026.4(PACS1):c.979-4A>G	Schuurs-Hoeijmakers syndrome [RCV003649606]	likely benign	11	66219742	66219742	Human	1	name
404980728	CV3121049	single nucleotide variant	NM_018026.4(PACS1):c.978+1G>A	Schuurs-Hoeijmakers syndrome [RCV003826041]	uncertain significance	11	66216776	66216776	Human	1	name
407426797	CV3411597	deletion	NM_018026.4(PACS1):c.535-1del	not provided [RCV004590775]	uncertain significance	11	66211133	66211133	Human		name
408385884	CV3520402	single nucleotide variant	NM_018026.4(PACS1):c.660+1G>A	not provided [RCV004760223]	uncertain significance	11	66211260	66211260	Human		name
596924204	CV3532124	single nucleotide variant	NM_018026.4(PACS1):c.445-2A>C	not provided [RCV004777235]	uncertain significance	11	66210360	66210360	Human		name
597879287	CV3786863	single nucleotide variant	NM_018026.4(PACS1):c.897+9C>T	Schuurs-Hoeijmakers syndrome [RCV005123939]	likely benign	11	66216620	66216620	Human	1	name
597881145	CV3857394	single nucleotide variant	NM_018026.4(PACS1):c.535-1G>A	Schuurs-Hoeijmakers syndrome [RCV005199009]	uncertain significance	11	66211133	66211133	Human	1	name
13829512	CV579720	single nucleotide variant	NM_018026.4(PACS1):c.535-4G>A	Inborn genetic diseases [RCV002315364]\|Schuurs-Hoeijmakers syndrome [RCV000945881]\|not provided [RCV001558621]	benign\|likely benign	11	66211130	66211130	Human	2	name
13830117	CV579953	single nucleotide variant	NM_018026.4(PACS1):c.661-5C>G	Inborn genetic diseases [RCV002316733]\|PACS1-related disorder [RCV004753008]\|Schuurs-Hoeijmakers syndrome [RCV000878512]\|not provided [RCV001573955]	benign\|likely benign	11	66216114	66216114	Human	2	name , trait , alternate_id
15146202	CV695536	single nucleotide variant	NM_018026.4(PACS1):c.897+9C>G	PACS1-related disorder [RCV003975496]\|Schuurs-Hoeijmakers syndrome [RCV000878513]\|not provided [RCV001712823]\|not specified [RCV001817054]	benign\|likely benign	11	66216620	66216620	Human	1	name , trait , alternate_id
126732345	CV1020908	single nucleotide variant	NM_018026.4(PACS1):c.661-15T>A	Schuurs-Hoeijmakers syndrome [RCV001333987]	conflicting interpretations of pathogenicity\|uncertain significance	11	66216104	66216104	Human	1	name
150411151	CV1177472	single nucleotide variant	NM_018026.4(PACS1):c.445-15T>C	Schuurs-Hoeijmakers syndrome [RCV002072006]\|not provided [RCV001547012]	benign\|likely benign	11	66210347	66210347	Human	1	name
150418712	CV1180852	single nucleotide variant	NM_018026.4(PACS1):c.979-86G>A	not provided [RCV001550721]	likely benign	11	66219660	66219660	Human		name
150422553	CV1180854	single nucleotide variant	NM_018026.4(PACS1):c.1838+3A>G	Schuurs-Hoeijmakers syndrome [RCV003106232]\|not provided [RCV001552798]	benign\|uncertain significance	11	66233069	66233069	Human	1	name
150415965	CV1180855	single nucleotide variant	NM_018026.4(PACS1):c.1838+9T>C	Schuurs-Hoeijmakers syndrome [RCV002072026]\|not provided [RCV001549385]	benign\|likely benign	11	66233075	66233075	Human	1	name
150417110	CV1194519	single nucleotide variant	NM_018026.4(PACS1):c.356+25G>A	not provided [RCV001568629]	likely benign	11	66070867	66070867	Human		name
150495250	CV1204970	single nucleotide variant	NM_018026.4(PACS1):c.1732-4C>T	Schuurs-Hoeijmakers syndrome [RCV003538809]\|not provided [RCV001593462]	likely benign	11	66232956	66232956	Human	1	name
150486641	CV1225775	single nucleotide variant	NM_018026.4(PACS1):c.661-68A>G	not provided [RCV001617936]	benign	11	66216051	66216051	Human		name
150516786	CV1227239	single nucleotide variant	NM_018026.4(PACS1):c.357-35G>A	not provided [RCV001639339]	benign	11	66193451	66193451	Human		name
150516998	CV1227437	single nucleotide variant	NM_018026.4(PACS1):c.805+44C>T	not provided [RCV001639538]	benign	11	66216307	66216307	Human		name
150432521	CV1235503	single nucleotide variant	NM_018026.4(PACS1):c.978+81T>C	not provided [RCV001642194]	benign	11	66216856	66216856	Human		name
150483027	CV1245042	single nucleotide variant	NM_018026.4(PACS1):c.535-27C>T	not provided [RCV001653219]	benign	11	66211107	66211107	Human		name
150452203	CV1254930	single nucleotide variant	NM_018026.4(PACS1):c.660+66C>T	not provided [RCV001667989]	benign	11	66211325	66211325	Human		name
150450382	CV1260951	single nucleotide variant	NM_018026.4(PACS1):c.661-27G>T	not provided [RCV001680620]	benign	11	66216092	66216092	Human		name
150462575	CV1264756	single nucleotide variant	NM_018026.4(PACS1):c.661-25C>T	not provided [RCV001682380]	benign	11	66216094	66216094	Human		name
150453021	CV1276798	single nucleotide variant	NM_018026.4(PACS1):c.356+30G>A	not provided [RCV001708588]	benign	11	66070872	66070872	Human		name
150544371	CV1297965	single nucleotide variant	NM_018026.4(PACS1):c.2250+3G>T	not provided [RCV001772873]	uncertain significance	11	66235943	66235943	Human		name
8660290	CV135315	single nucleotide variant	NM_018026.4(PACS1):c.1993+8C>T	Schuurs-Hoeijmakers syndrome [RCV001521845]\|not provided [RCV001610417]\|not specified [RCV000117886]	benign\|likely benign	11	66233947	66233947	Human	1	name
8660292	CV135317	single nucleotide variant	NM_018026.4(PACS1):c.2293+6G>C	Schuurs-Hoeijmakers syndrome [RCV001521846]\|not provided [RCV001636669]\|not specified [RCV000117888]	benign\|likely benign	11	66238852	66238852	Human	1	name
8660293	CV135318	single nucleotide variant	NM_018026.4(PACS1):c.2777-3T>C	Inborn genetic diseases [RCV002312206]\|Schuurs-Hoeijmakers syndrome [RCV001521847]\|not provided [RCV001650962]\|not specified [RCV000117889]	benign\|likely benign	11	66243162	66243162	Human	2	name
151881442	CV1395838	single nucleotide variant	NM_018026.4(PACS1):c.1732-9C>G	Schuurs-Hoeijmakers syndrome [RCV002036944]	likely benign\|uncertain significance	11	66232951	66232951	Human	1	name
151846354	CV1434681	deletion	NM_018026.4(PACS1):c.1993+5del	Schuurs-Hoeijmakers syndrome [RCV001922169]	uncertain significance	11	66233942	66233942	Human	1	name
151776012	CV1463775	single nucleotide variant	NM_018026.4(PACS1):c.1491-4G>C	Schuurs-Hoeijmakers syndrome [RCV001896797]	benign\|uncertain significance	11	66230801	66230801	Human	1	name
152094731	CV1546023	single nucleotide variant	NM_018026.4(PACS1):c.534+13T>C	Schuurs-Hoeijmakers syndrome [RCV002132476]	benign	11	66210464	66210464	Human	1	name
152125445	CV1554058	single nucleotide variant	NM_018026.4(PACS1):c.1732-5C>T	Schuurs-Hoeijmakers syndrome [RCV002098753]	likely benign	11	66232955	66232955	Human	1	name
152028748	CV1655380	single nucleotide variant	NM_018026.4(PACS1):c.979-15G>A	Schuurs-Hoeijmakers syndrome [RCV002105345]	likely benign	11	66219731	66219731	Human	1	name
152085166	CV1663196	single nucleotide variant	NM_018026.4(PACS1):c.661-18A>G	Schuurs-Hoeijmakers syndrome [RCV002171073]	likely benign	11	66216101	66216101	Human	1	name
155641374	CV1709736	single nucleotide variant	NM_018026.4(PACS1):c.2250+1G>A	not provided [RCV002292836]	uncertain significance	11	66235941	66235941	Human		name
156267190	CV1879340	single nucleotide variant	NM_018026.4(PACS1):c.979-16C>T	Schuurs-Hoeijmakers syndrome [RCV003060579]	likely benign	11	66219730	66219730	Human	1	name
156025651	CV1883249	single nucleotide variant	NM_018026.4(PACS1):c.1199+8C>T	Schuurs-Hoeijmakers syndrome [RCV003077853]	likely benign	11	66220799	66220799	Human	1	name
156077030	CV1886443	single nucleotide variant	NM_018026.4(PACS1):c.806-13G>A	Schuurs-Hoeijmakers syndrome [RCV003079739]	likely benign	11	66216507	66216507	Human	1	name
156024848	CV1896071	single nucleotide variant	NM_018026.4(PACS1):c.805+10A>G	Schuurs-Hoeijmakers syndrome [RCV003100377]	likely benign	11	66216273	66216273	Human	1	name
156028442	CV1906945	single nucleotide variant	NM_018026.4(PACS1):c.2776+9G>A	Schuurs-Hoeijmakers syndrome [RCV003100535]	likely benign	11	66243040	66243040	Human	1	name
156323811	CV1908347	single nucleotide variant	NM_018026.4(PACS1):c.1039-7C>A	Schuurs-Hoeijmakers syndrome [RCV002579423]	likely benign	11	66220624	66220624	Human	1	name
156084338	CV1909142	single nucleotide variant	NM_018026.4(PACS1):c.1626+4C>A	Schuurs-Hoeijmakers syndrome [RCV002591683]	benign	11	66230944	66230944	Human	1	name
156316801	CV1910411	single nucleotide variant	NM_018026.4(PACS1):c.1627-4G>T	Schuurs-Hoeijmakers syndrome [RCV002599991]	likely benign	11	66232168	66232168	Human	1	name
156357564	CV1913951	single nucleotide variant	NM_018026.4(PACS1):c.1199+5G>A	Schuurs-Hoeijmakers syndrome [RCV002632445]	uncertain significance	11	66220796	66220796	Human	1	name
156259353	CV2037600	single nucleotide variant	NM_018026.4(PACS1):c.2776+4C>T	Schuurs-Hoeijmakers syndrome [RCV002806273]\|not provided [RCV003154261]\|not specified [RCV004700831]	uncertain significance	11	66243035	66243035	Human	1	name
156280610	CV2042807	single nucleotide variant	NM_018026.4(PACS1):c.978+13G>A	Schuurs-Hoeijmakers syndrome [RCV002770372]	likely benign	11	66216788	66216788	Human	1	name
156354314	CV2066259	single nucleotide variant	NM_018026.4(PACS1):c.2251-5T>C	Schuurs-Hoeijmakers syndrome [RCV002812020]	likely benign	11	66238799	66238799	Human	1	name
155923180	CV2073796	single nucleotide variant	NM_018026.4(PACS1):c.444+14G>A	Schuurs-Hoeijmakers syndrome [RCV002838408]	likely benign	11	66193587	66193587	Human	1	name
10403976	CV207894	single nucleotide variant	NM_018026.4(PACS1):c.2776+5G>A	Schuurs-Hoeijmakers syndrome [RCV002517111]\|not provided [RCV001540206]\|not specified [RCV000193880]	benign\|likely benign	11	66243036	66243036	Human	1	name
156011460	CV2079821	single nucleotide variant	NM_018026.4(PACS1):c.2776+7G>C	Schuurs-Hoeijmakers syndrome [RCV002866130]	likely benign	11	66243038	66243038	Human	1	name
156077754	CV2083548	single nucleotide variant	NM_018026.4(PACS1):c.1199+6C>T	Schuurs-Hoeijmakers syndrome [RCV002847283]	uncertain significance	11	66220797	66220797	Human	1	name
156015077	CV2086983	single nucleotide variant	NM_018026.4(PACS1):c.1839-9C>T	Schuurs-Hoeijmakers syndrome [RCV002866312]	likely benign	11	66233776	66233776	Human	1	name
156123423	CV2088187	single nucleotide variant	NM_018026.4(PACS1):c.1491-9C>T	Schuurs-Hoeijmakers syndrome [RCV002871357]	likely benign	11	66230796	66230796	Human	1	name
155981880	CV2090572	single nucleotide variant	NM_018026.4(PACS1):c.1994-8T>C	Schuurs-Hoeijmakers syndrome [RCV002881974]	likely benign	11	66234124	66234124	Human	1	name
156246910	CV2101726	single nucleotide variant	NM_018026.4(PACS1):c.1839-4C>T	Schuurs-Hoeijmakers syndrome [RCV002895120]	likely benign	11	66233781	66233781	Human	1	name
156117621	CV2115789	single nucleotide variant	NM_018026.4(PACS1):c.2656+9C>A	Schuurs-Hoeijmakers syndrome [RCV002927684]	likely benign	11	66241662	66241662	Human	1	name
156016445	CV2121424	single nucleotide variant	NM_018026.4(PACS1):c.897+16C>T	Schuurs-Hoeijmakers syndrome [RCV002948558]	benign	11	66216627	66216627	Human	1	name
156153691	CV2121692	single nucleotide variant	NM_018026.4(PACS1):c.2777-8A>T	Schuurs-Hoeijmakers syndrome [RCV002928987]	likely benign	11	66243157	66243157	Human	1	name
156131319	CV2125152	single nucleotide variant	NM_018026.4(PACS1):c.445-15T>A	Schuurs-Hoeijmakers syndrome [RCV002953889]	likely benign	11	66210347	66210347	Human	1	name
156163796	CV2135677	single nucleotide variant	NM_018026.4(PACS1):c.660+11C>T	Schuurs-Hoeijmakers syndrome [RCV002983105]	likely benign	11	66211270	66211270	Human	1	name
155989232	CV2151138	single nucleotide variant	NM_018026.4(PACS1):c.979-15G>T	Schuurs-Hoeijmakers syndrome [RCV003016744]	likely benign	11	66219731	66219731	Human	1	name
156016213	CV2177502	single nucleotide variant	NM_018026.4(PACS1):c.1294-7T>C	Schuurs-Hoeijmakers syndrome [RCV003035497]	likely benign	11	66227497	66227497	Human	1	name
156355121	CV2188699	single nucleotide variant	NM_018026.4(PACS1):c.2293+3G>A	Schuurs-Hoeijmakers syndrome [RCV003048629]	uncertain significance	11	66238849	66238849	Human	1	name
329847413	CV2524249	single nucleotide variant	NM_018026.4(PACS1):c.445-21G>C	not provided [RCV003227141]	likely benign	11	66210341	66210341	Human		name
401924491	CV2804899	single nucleotide variant	NM_018026.4(PACS1):c.1994-7C>T	Schuurs-Hoeijmakers syndrome [RCV003649456]\|not specified [RCV003404716]	likely benign\|uncertain significance	11	66234125	66234125	Human	1	name
405145014	CV2880717	single nucleotide variant	NM_018026.4(PACS1):c.897+18C>T	Schuurs-Hoeijmakers syndrome [RCV003537872]	likely benign	11	66216629	66216629	Human	1	name
405153627	CV2882926	single nucleotide variant	NM_018026.4(PACS1):c.2294-8C>T	Schuurs-Hoeijmakers syndrome [RCV003539122]	likely benign	11	66239134	66239134	Human	1	name
405082111	CV2895252	single nucleotide variant	NM_018026.4(PACS1):c.898-12G>T	Schuurs-Hoeijmakers syndrome [RCV003535256]	likely benign	11	66216683	66216683	Human	1	name
405083107	CV2895789	single nucleotide variant	NM_018026.4(PACS1):c.444+10G>C	Schuurs-Hoeijmakers syndrome [RCV003535345]	likely benign	11	66193583	66193583	Human	1	name
405140480	CV2910594	single nucleotide variant	NM_018026.4(PACS1):c.534+10T>C	Schuurs-Hoeijmakers syndrome [RCV003536932]	likely benign	11	66210461	66210461	Human	1	name
405093146	CV2915436	single nucleotide variant	NM_018026.4(PACS1):c.2104+8C>A	Schuurs-Hoeijmakers syndrome [RCV003536647]	likely benign	11	66234250	66234250	Human	1	name
405012578	CV2937395	single nucleotide variant	NM_018026.4(PACS1):c.979-10G>T	Schuurs-Hoeijmakers syndrome [RCV003649488]	likely benign	11	66219736	66219736	Human	1	name
405012789	CV2941156	single nucleotide variant	NM_018026.4(PACS1):c.1491-7C>T	Schuurs-Hoeijmakers syndrome [RCV003649509]	likely benign	11	66230798	66230798	Human	1	name
405013582	CV2953988	single nucleotide variant	NM_018026.4(PACS1):c.1039-8C>T	Schuurs-Hoeijmakers syndrome [RCV003649574]	likely benign	11	66220623	66220623	Human	1	name
405014407	CV2970706	single nucleotide variant	NM_018026.4(PACS1):c.1199+3G>A	Schuurs-Hoeijmakers syndrome [RCV003649663]	benign	11	66220794	66220794	Human	1	name
405014639	CV2974821	single nucleotide variant	NM_018026.4(PACS1):c.2777-6C>T	Schuurs-Hoeijmakers syndrome [RCV003649685]	likely benign	11	66243159	66243159	Human	1	name
405014763	CV2975004	single nucleotide variant	NM_018026.4(PACS1):c.1374+5G>A	Schuurs-Hoeijmakers syndrome [RCV003649701]	uncertain significance	11	66227589	66227589	Human	1	name
405022476	CV2981525	single nucleotide variant	NM_018026.4(PACS1):c.979-20C>T	Schuurs-Hoeijmakers syndrome [RCV003650927]	likely benign	11	66219726	66219726	Human	1	name
405032239	CV2993444	single nucleotide variant	NM_018026.4(PACS1):c.1626+6T>C	Schuurs-Hoeijmakers syndrome [RCV003652391]	uncertain significance	11	66230946	66230946	Human	1	name
405031766	CV2996064	single nucleotide variant	NM_018026.4(PACS1):c.2250+3G>A	Schuurs-Hoeijmakers syndrome [RCV003652298]	uncertain significance	11	66235943	66235943	Human	1	name
405024594	CV2998691	single nucleotide variant	NM_018026.4(PACS1):c.979-18T>C	Schuurs-Hoeijmakers syndrome [RCV003651239]	uncertain significance	11	66219728	66219728	Human	1	name
405036300	CV3006953	single nucleotide variant	NM_018026.4(PACS1):c.2208-7C>T	Schuurs-Hoeijmakers syndrome [RCV003652750]	likely benign	11	66235891	66235891	Human	1	name
405035032	CV3009797	single nucleotide variant	NM_018026.4(PACS1):c.1627-4G>A	Schuurs-Hoeijmakers syndrome [RCV003652657]	likely benign	11	66232168	66232168	Human	1	name
405033775	CV3014862	single nucleotide variant	NM_018026.4(PACS1):c.445-15T>G	Schuurs-Hoeijmakers syndrome [RCV003652534]	likely benign	11	66210347	66210347	Human	1	name
405042468	CV3029271	single nucleotide variant	NM_018026.4(PACS1):c.806-11G>A	Schuurs-Hoeijmakers syndrome [RCV003653824]	likely benign	11	66216509	66216509	Human	1	name
405018853	CV3052178	single nucleotide variant	NM_018026.4(PACS1):c.1993+9G>A	Schuurs-Hoeijmakers syndrome [RCV003650180]	likely benign	11	66233948	66233948	Human	1	name
405026397	CV3057809	single nucleotide variant	NM_018026.4(PACS1):c.1491-3C>T	Schuurs-Hoeijmakers syndrome [RCV003651412]	uncertain significance	11	66230802	66230802	Human	1	name
405028480	CV3058891	single nucleotide variant	NM_018026.4(PACS1):c.898-18G>C	Schuurs-Hoeijmakers syndrome [RCV003651549]	likely benign	11	66216677	66216677	Human	1	name
405028659	CV3058946	single nucleotide variant	NM_018026.4(PACS1):c.2251-6T>C	Schuurs-Hoeijmakers syndrome [RCV003651609]	likely benign	11	66238798	66238798	Human	1	name
405028194	CV3069216	single nucleotide variant	NM_018026.4(PACS1):c.1375-9C>G	Schuurs-Hoeijmakers syndrome [RCV003651569]	likely benign	11	66230539	66230539	Human	1	name
405037428	CV3073820	single nucleotide variant	NM_018026.4(PACS1):c.805+12G>A	Schuurs-Hoeijmakers syndrome [RCV003652891]	likely benign	11	66216275	66216275	Human	1	name
405038497	CV3076548	single nucleotide variant	NM_018026.4(PACS1):c.978+18G>A	Schuurs-Hoeijmakers syndrome [RCV003652958]	likely benign	11	66216793	66216793	Human	1	name
405040640	CV3080995	single nucleotide variant	NM_018026.4(PACS1):c.1293+7G>A	Schuurs-Hoeijmakers syndrome [RCV003653157]	likely benign	11	66221254	66221254	Human	1	name
405127586	CV3132905	single nucleotide variant	NM_018026.4(PACS1):c.444+19T>C	Schuurs-Hoeijmakers syndrome [RCV003838068]	likely benign	11	66193592	66193592	Human	1	name
408391013	CV3521153	single nucleotide variant	NM_018026.4(PACS1):c.2105-2A>G	not provided [RCV004762975]	uncertain significance	11	66235299	66235299	Human		name
596920622	CV3534072	single nucleotide variant	NM_018026.4(PACS1):c.806-12T>C	Schuurs-Hoeijmakers syndrome [RCV005105039]\|not specified [RCV004783290]	likely benign\|uncertain significance	11	66216508	66216508	Human	1	name
596946761	CV3548591	single nucleotide variant	NM_018026.4(PACS1):c.1038+8C>T	not provided [RCV004810419]	likely benign	11	66219813	66219813	Human		name
597943408	CV3765800	deletion	NM_018026.4(PACS1):c.535-12del	Schuurs-Hoeijmakers syndrome [RCV005119178]	benign	11	66211119	66211119	Human	1	name
597937041	CV3774618	single nucleotide variant	NM_018026.4(PACS1):c.2251-7C>G	Schuurs-Hoeijmakers syndrome [RCV005117651]	likely benign	11	66238797	66238797	Human	1	name
597953106	CV3776354	single nucleotide variant	NM_018026.4(PACS1):c.1626+1G>T	Schuurs-Hoeijmakers syndrome [RCV005121482]	uncertain significance	11	66230941	66230941	Human	1	name
597944405	CV3776586	single nucleotide variant	NM_018026.4(PACS1):c.661-17C>T	Schuurs-Hoeijmakers syndrome [RCV005119442]	likely benign	11	66216102	66216102	Human	1	name
597885316	CV3780582	single nucleotide variant	NM_018026.4(PACS1):c.535-11G>C	Schuurs-Hoeijmakers syndrome [RCV005124710]	likely benign	11	66211123	66211123	Human	1	name
597896536	CV3782252	single nucleotide variant	NM_018026.4(PACS1):c.660+20C>T	Schuurs-Hoeijmakers syndrome [RCV005126477]	likely benign	11	66211279	66211279	Human	1	name
597942357	CV3786202	single nucleotide variant	NM_018026.4(PACS1):c.1293+2T>A	Schuurs-Hoeijmakers syndrome [RCV005133893]	likely benign	11	66221249	66221249	Human	1	name
597962366	CV3791424	single nucleotide variant	NM_018026.4(PACS1):c.661-12C>A	Schuurs-Hoeijmakers syndrome [RCV005139178]	likely benign	11	66216107	66216107	Human	1	name
597963667	CV3792026	single nucleotide variant	NM_018026.4(PACS1):c.444+18G>A	Schuurs-Hoeijmakers syndrome [RCV005139582]	likely benign	11	66193591	66193591	Human	1	name
597955999	CV3796290	duplication	NM_018026.4(PACS1):c.2207+2dup	Schuurs-Hoeijmakers syndrome [RCV005137107]	uncertain significance	11	66235404	66235405	Human	1	name
597960184	CV3811472	single nucleotide variant	NM_018026.4(PACS1):c.1491-7C>G	Schuurs-Hoeijmakers syndrome [RCV005163319]	likely benign	11	66230798	66230798	Human	1	name
597949656	CV3814736	single nucleotide variant	NM_018026.4(PACS1):c.2207+9G>A	Schuurs-Hoeijmakers syndrome [RCV005160877]	likely benign	11	66235412	66235412	Human	1	name
597948324	CV3818287	single nucleotide variant	NM_018026.4(PACS1):c.2656+8C>T	Schuurs-Hoeijmakers syndrome [RCV005160548]	likely benign	11	66241661	66241661	Human	1	name
597867709	CV3857895	single nucleotide variant	NM_018026.4(PACS1):c.535-10T>C	Schuurs-Hoeijmakers syndrome [RCV005196843]	likely benign	11	66211124	66211124	Human	1	name
597876875	CV3860185	single nucleotide variant	NM_018026.4(PACS1):c.1993+5A>G	Schuurs-Hoeijmakers syndrome [RCV005198394]	uncertain significance	11	66233944	66233944	Human	1	name
597936946	CV3862608	single nucleotide variant	NM_018026.4(PACS1):c.445-20A>T	Schuurs-Hoeijmakers syndrome [RCV005207880]	likely benign	11	66210342	66210342	Human	1	name
598227828	CV3896044	single nucleotide variant	NM_018026.4(PACS1):c.2656+1G>A	Schuurs-Hoeijmakers syndrome [RCV005362298]	uncertain significance	11	66241654	66241654	Human	1	name
12895185	CV408430	single nucleotide variant	NM_018026.4(PACS1):c.2656+1G>C	not provided [RCV000485538]	likely pathogenic	11	66241654	66241654	Human		name
13214652	CV429271	single nucleotide variant	NM_018026.4(PACS1):c.1375-4G>A	not provided [RCV002225635]\|not specified [RCV000501530]	likely benign\|uncertain significance	11	66230544	66230544	Human		name
13488944	CV461898	single nucleotide variant	NM_018026.4(PACS1):c.2207+5G>C	Inborn genetic diseases [RCV003159908]\|Schuurs-Hoeijmakers syndrome [RCV000532652]	likely benign\|uncertain significance	11	66235408	66235408	Human	2	name
13830122	CV579775	single nucleotide variant	NM_018026.4(PACS1):c.1627-3C>T	Inborn genetic diseases [RCV002316737]	likely benign	11	66232169	66232169	Human	1	name
15099820	CV777983	single nucleotide variant	NM_018026.4(PACS1):c.1375-7A>G	Schuurs-Hoeijmakers syndrome [RCV000958819]\|not provided [RCV001580556]	likely benign	11	66230541	66230541	Human	1	name
15179904	CV778160	single nucleotide variant	NM_018026.4(PACS1):c.1293+6C>T	Inborn genetic diseases [RCV002546029]\|Schuurs-Hoeijmakers syndrome [RCV000951626]\|not provided [RCV001538937]\|not specified [RCV001818974]	benign\|likely benign	11	66221253	66221253	Human	2	name
38476658	CV941009	single nucleotide variant	NM_018026.4(PACS1):c.2776+5G>C	Schuurs-Hoeijmakers syndrome [RCV001215752]	uncertain significance	11	66243036	66243036	Human	1	name
150418849	CV1180850	single nucleotide variant	NM_018026.4(PACS1):c.661-214T>A	not provided [RCV001550781]	likely benign	11	66215905	66215905	Human		name
150429391	CV1187768	single nucleotide variant	NM_018026.4(PACS1):c.1294-12T>C	Schuurs-Hoeijmakers syndrome [RCV002570740]\|not provided [RCV001563539]	likely benign	11	66227492	66227492	Human	1	name
150427561	CV1187769	single nucleotide variant	NM_018026.4(PACS1):c.1490+43G>T	not provided [RCV001561087]	likely benign	11	66230706	66230706	Human		name
150405789	CV1191247	single nucleotide variant	NM_018026.4(PACS1):c.1491-32A>G	not provided [RCV001564443]	likely benign	11	66230773	66230773	Human		name
150405913	CV1194527	single nucleotide variant	NM_018026.4(PACS1):c.1839-19C>T	Schuurs-Hoeijmakers syndrome [RCV002569055]\|not provided [RCV001571844]	benign\|likely benign	11	66233766	66233766	Human	1	name
150448702	CV1202073	single nucleotide variant	NM_018026.4(PACS1):c.1199+46C>T	not provided [RCV001584943]	likely benign	11	66220837	66220837	Human		name
150449346	CV1202429	single nucleotide variant	NM_018026.4(PACS1):c.2104+37G>A	not provided [RCV001585026]	likely benign	11	66234279	66234279	Human		name
150460567	CV1205793	single nucleotide variant	NM_018026.4(PACS1):c.661-208T>A	not provided [RCV001586750]	likely benign	11	66215911	66215911	Human		name
150510897	CV1210613	single nucleotide variant	NM_018026.4(PACS1):c.661-241C>T	not provided [RCV001597792]	benign	11	66215878	66215878	Human		name
150513243	CV1211865	single nucleotide variant	NM_018026.4(PACS1):c.2776+28G>C	not provided [RCV001598386]	benign	11	66243059	66243059	Human		name
150506391	CV1213768	single nucleotide variant	NM_018026.4(PACS1):c.2429+51C>T	not provided [RCV001596025]	benign	11	66239328	66239328	Human		name
150438419	CV1221158	single nucleotide variant	NM_018026.4(PACS1):c.2657-47C>T	not provided [RCV001609852]	benign	11	66242865	66242865	Human		name
150479434	CV1221504	single nucleotide variant	NM_018026.4(PACS1):c.1731+31G>T	not provided [RCV001616583]	benign	11	66232307	66232307	Human		name
150484806	CV1222572	single nucleotide variant	NM_018026.4(PACS1):c.535-209A>G	not provided [RCV001617575]	benign	11	66210925	66210925	Human		name
150504284	CV1223919	single nucleotide variant	NM_018026.4(PACS1):c.661-205T>A	not provided [RCV001621568]	benign	11	66215914	66215914	Human		name
150506423	CV1226343	single nucleotide variant	NM_018026.4(PACS1):c.356+217G>T	not provided [RCV001635711]	benign	11	66071059	66071059	Human		name
150517317	CV1226766	single nucleotide variant	NM_018026.4(PACS1):c.1731+18G>A	Schuurs-Hoeijmakers syndrome [RCV002072960]\|not provided [RCV001639860]	benign	11	66232294	66232294	Human	1	name
150433311	CV1230484	single nucleotide variant	NM_018026.4(PACS1):c.535-152C>T	not provided [RCV001643429]	benign	11	66210982	66210982	Human		name
150486271	CV1234572	single nucleotide variant	NM_018026.4(PACS1):c.2104+36C>T	not provided [RCV001653995]	benign	11	66234278	66234278	Human		name
150469841	CV1243224	single nucleotide variant	NM_018026.4(PACS1):c.1293+37G>A	not provided [RCV001650745]	benign	11	66221284	66221284	Human		name
150470863	CV1248092	single nucleotide variant	NM_018026.4(PACS1):c.1374+26C>T	not provided [RCV001671128]	benign	11	66227610	66227610	Human		name
150450498	CV1254121	single nucleotide variant	NM_018026.4(PACS1):c.1993+18C>T	Schuurs-Hoeijmakers syndrome [RCV002538595]\|not provided [RCV001667759]	benign	11	66233957	66233957	Human	1	name
150452561	CV1254980	single nucleotide variant	NM_018026.4(PACS1):c.445-300T>G	not provided [RCV001668039]	benign	11	66210062	66210062	Human		name
150500858	CV1256180	single nucleotide variant	NM_018026.4(PACS1):c.2105-91G>A	not provided [RCV001676804]	benign	11	66235210	66235210	Human		name
150451990	CV1260331	single nucleotide variant	NM_018026.4(PACS1):c.661-271C>T	not provided [RCV001680821]	benign	11	66215848	66215848	Human		name
150438973	CV1266706	single nucleotide variant	NM_018026.4(PACS1):c.1627-29A>T	not provided [RCV001690141]	benign	11	66232143	66232143	Human		name
150446810	CV1271921	single nucleotide variant	NM_018026.4(PACS1):c.2657-46G>A	not provided [RCV001691335]	benign	11	66242866	66242866	Human		name
150453854	CV1276906	single nucleotide variant	NM_018026.4(PACS1):c.2429+52G>A	not provided [RCV001708696]	benign	11	66239329	66239329	Human		name
150497119	CV1283495	single nucleotide variant	NM_018026.4(PACS1):c.2294-68T>C	not provided [RCV001717799]	benign	11	66239074	66239074	Human		name
150513430	CV1285163	single nucleotide variant	NM_018026.4(PACS1):c.979-120C>T	not provided [RCV001722033]	benign	11	66219626	66219626	Human		name
150513432	CV1285164	single nucleotide variant	NM_018026.4(PACS1):c.1294-34G>T	not provided [RCV001722034]	benign	11	66227470	66227470	Human		name
150436477	CV1286379	single nucleotide variant	NM_018026.4(PACS1):c.445-300T>A	not provided [RCV001724455]	benign	11	66210062	66210062	Human		name
150436488	CV1286381	single nucleotide variant	NM_018026.4(PACS1):c.356+259C>T	not provided [RCV001724457]	benign	11	66071101	66071101	Human		name
151860714	CV1374104	single nucleotide variant	NM_018026.4(PACS1):c.1293+14C>T	Schuurs-Hoeijmakers syndrome [RCV001938505]	likely benign\|uncertain significance	11	66221261	66221261	Human	1	name
151784831	CV1435266	single nucleotide variant	NM_018026.4(PACS1):c.1626+20A>G	Schuurs-Hoeijmakers syndrome [RCV001916214]	benign\|uncertain significance	11	66230960	66230960	Human	1	name
152122006	CV1521536	single nucleotide variant	NM_018026.4(PACS1):c.1200-18C>T	Schuurs-Hoeijmakers syndrome [RCV002135827]	likely benign	11	66221136	66221136	Human	1	name
152159365	CV1522623	single nucleotide variant	NM_018026.4(PACS1):c.1732-14C>A	Schuurs-Hoeijmakers syndrome [RCV002140651]	likely benign	11	66232946	66232946	Human	1	name
152041358	CV1537723	single nucleotide variant	NM_018026.4(PACS1):c.2251-19G>A	Schuurs-Hoeijmakers syndrome [RCV002165733]	likely benign	11	66238785	66238785	Human	1	name
152059175	CV1539193	single nucleotide variant	NM_018026.4(PACS1):c.2776+15A>G	Schuurs-Hoeijmakers syndrome [RCV002073465]	likely benign	11	66243046	66243046	Human	1	name
152053752	CV1545718	single nucleotide variant	NM_018026.4(PACS1):c.2207+10A>T	Schuurs-Hoeijmakers syndrome [RCV002164855]\|not provided [RCV002225961]	likely benign	11	66235413	66235413	Human	1	name
152068553	CV1571221	single nucleotide variant	NM_018026.4(PACS1):c.1199+16T>C	Schuurs-Hoeijmakers syndrome [RCV002129298]\|not provided [RCV004719003]	benign	11	66220807	66220807	Human	1	name
152083631	CV1576859	single nucleotide variant	NM_018026.4(PACS1):c.2104+12G>A	Schuurs-Hoeijmakers syndrome [RCV002193345]	likely benign	11	66234254	66234254	Human	1	name
152068551	CV1585767	single nucleotide variant	NM_018026.4(PACS1):c.2777-19C>G	Schuurs-Hoeijmakers syndrome [RCV002147762]	likely benign	11	66243146	66243146	Human	1	name
152128993	CV1599862	single nucleotide variant	NM_018026.4(PACS1):c.2656+19G>A	Schuurs-Hoeijmakers syndrome [RCV002136688]	likely benign	11	66241672	66241672	Human	1	name
152074720	CV1652781	single nucleotide variant	NM_018026.4(PACS1):c.2250+12C>T	Schuurs-Hoeijmakers syndrome [RCV002148545]	benign	11	66235952	66235952	Human	1	name
156390707	CV1872694	single nucleotide variant	NM_018026.4(PACS1):c.1294-13A>G	Schuurs-Hoeijmakers syndrome [RCV003051282]	likely benign	11	66227491	66227491	Human	1	name
156407961	CV1873136	single nucleotide variant	NM_018026.4(PACS1):c.2104+13T>C	Schuurs-Hoeijmakers syndrome [RCV003071084]	likely benign	11	66234255	66234255	Human	1	name
156220910	CV1879261	single nucleotide variant	NM_018026.4(PACS1):c.1199+10C>T	Schuurs-Hoeijmakers syndrome [RCV003058932]	likely benign	11	66220801	66220801	Human	1	name
156288426	CV1885016	single nucleotide variant	NM_018026.4(PACS1):c.1627-17T>G	Schuurs-Hoeijmakers syndrome [RCV003061345]	likely benign	11	66232155	66232155	Human	1	name
156370100	CV1920103	single nucleotide variant	NM_018026.4(PACS1):c.1994-16G>A	Schuurs-Hoeijmakers syndrome [RCV002603104]	likely benign	11	66234116	66234116	Human	1	name
156220557	CV1924968	single nucleotide variant	NM_018026.4(PACS1):c.2251-14T>G	Schuurs-Hoeijmakers syndrome [RCV002644387]	likely benign	11	66238790	66238790	Human	1	name
156297444	CV2017133	single nucleotide variant	NM_018026.4(PACS1):c.2208-18T>C	Schuurs-Hoeijmakers syndrome [RCV002715907]	likely benign	11	66235880	66235880	Human	1	name
156055336	CV2023831	single nucleotide variant	NM_018026.4(PACS1):c.1839-13C>T	Schuurs-Hoeijmakers syndrome [RCV002736645]	likely benign	11	66233772	66233772	Human	1	name
156114769	CV2065690	single nucleotide variant	NM_018026.4(PACS1):c.2430-10C>A	Schuurs-Hoeijmakers syndrome [RCV002871036]	likely benign	11	66241417	66241417	Human	1	name
155939691	CV2071810	single nucleotide variant	NM_018026.4(PACS1):c.1294-16C>G	Schuurs-Hoeijmakers syndrome [RCV002839321]	likely benign	11	66227488	66227488	Human	1	name
156085878	CV2080042	single nucleotide variant	NM_018026.4(PACS1):c.2656+11C>T	Schuurs-Hoeijmakers syndrome [RCV002847543]	likely benign	11	66241664	66241664	Human	1	name
155973649	CV2088571	single nucleotide variant	NM_018026.4(PACS1):c.1839-17C>A	Schuurs-Hoeijmakers syndrome [RCV002863434]	likely benign	11	66233768	66233768	Human	1	name
155981183	CV2090452	single nucleotide variant	NM_018026.4(PACS1):c.2656+16G>A	Schuurs-Hoeijmakers syndrome [RCV002881941]	likely benign	11	66241669	66241669	Human	1	name
156148900	CV2090997	single nucleotide variant	NM_018026.4(PACS1):c.1293+15G>A	Schuurs-Hoeijmakers syndrome [RCV002890585]	likely benign	11	66221262	66221262	Human	1	name
156038851	CV2097885	single nucleotide variant	NM_018026.4(PACS1):c.2776+20C>T	Schuurs-Hoeijmakers syndrome [RCV002885727]	likely benign	11	66243051	66243051	Human	1	name
156077165	CV2098416	single nucleotide variant	NM_018026.4(PACS1):c.1731+17C>T	Schuurs-Hoeijmakers syndrome [RCV002912577]	likely benign	11	66232293	66232293	Human	1	name
156099960	CV2107252	single nucleotide variant	NM_018026.4(PACS1):c.2657-17C>T	Schuurs-Hoeijmakers syndrome [RCV002927013]	likely benign	11	66242895	66242895	Human	1	name
156110353	CV2108225	single nucleotide variant	NM_018026.4(PACS1):c.2294-16G>A	Schuurs-Hoeijmakers syndrome [RCV002927402]	likely benign	11	66239126	66239126	Human	1	name
155941825	CV2114950	single nucleotide variant	NM_018026.4(PACS1):c.1293+13G>A	Schuurs-Hoeijmakers syndrome [RCV002904523]	likely benign	11	66221260	66221260	Human	1	name
156225846	CV2115350	single nucleotide variant	NM_018026.4(PACS1):c.2251-14T>C	Schuurs-Hoeijmakers syndrome [RCV002932632]	likely benign	11	66238790	66238790	Human	1	name
156343279	CV2124010	single nucleotide variant	NM_018026.4(PACS1):c.1293+20C>T	Schuurs-Hoeijmakers syndrome [RCV002939016]	likely benign	11	66221267	66221267	Human	1	name
156127177	CV2124956	single nucleotide variant	NM_018026.4(PACS1):c.1627-20A>C	Schuurs-Hoeijmakers syndrome [RCV002953735]	likely benign	11	66232152	66232152	Human	1	name
156213031	CV2127843	single nucleotide variant	NM_018026.4(PACS1):c.1038+15T>A	Schuurs-Hoeijmakers syndrome [RCV002957826]	likely benign	11	66219820	66219820	Human	1	name
156173132	CV2133671	single nucleotide variant	NM_018026.4(PACS1):c.2656+18C>T	Schuurs-Hoeijmakers syndrome [RCV003005452]	likely benign	11	66241671	66241671	Human	1	name
156162028	CV2136869	single nucleotide variant	NM_018026.4(PACS1):c.1838+19C>T	Schuurs-Hoeijmakers syndrome [RCV003005100]	likely benign	11	66233085	66233085	Human	1	name
156109367	CV2140070	single nucleotide variant	NM_018026.4(PACS1):c.1839-18G>A	Schuurs-Hoeijmakers syndrome [RCV003002526]	likely benign	11	66233767	66233767	Human	1	name
156039046	CV2143354	single nucleotide variant	NM_018026.4(PACS1):c.2429+17T>C	Schuurs-Hoeijmakers syndrome [RCV002999446]	likely benign	11	66239294	66239294	Human	1	name
155925836	CV2145061	single nucleotide variant	NM_018026.4(PACS1):c.2656+10C>T	Schuurs-Hoeijmakers syndrome [RCV003013400]	likely benign	11	66241663	66241663	Human	1	name
156159027	CV2147223	single nucleotide variant	NM_018026.4(PACS1):c.1293+12C>A	Schuurs-Hoeijmakers syndrome [RCV003023123]	likely benign	11	66221259	66221259	Human	1	name
156240557	CV2150893	single nucleotide variant	NM_018026.4(PACS1):c.1374+15G>A	Schuurs-Hoeijmakers syndrome [RCV003025991]	likely benign	11	66227599	66227599	Human	1	name
155947196	CV2150917	single nucleotide variant	NM_018026.4(PACS1):c.2429+16G>A	Schuurs-Hoeijmakers syndrome [RCV003014637]	likely benign	11	66239293	66239293	Human	1	name
156297008	CV2162919	single nucleotide variant	NM_018026.4(PACS1):c.2656+15G>A	Schuurs-Hoeijmakers syndrome [RCV003045377]	likely benign	11	66241668	66241668	Human	1	name
156186041	CV2164111	single nucleotide variant	NM_018026.4(PACS1):c.1732-13C>G	Schuurs-Hoeijmakers syndrome [RCV003023980]	likely benign	11	66232947	66232947	Human	1	name
156190475	CV2165955	single nucleotide variant	NM_018026.4(PACS1):c.1994-17G>C	Schuurs-Hoeijmakers syndrome [RCV003041633]	likely benign	11	66234115	66234115	Human	1	name
156250440	CV2174564	single nucleotide variant	NM_018026.4(PACS1):c.1993+12A>G	Schuurs-Hoeijmakers syndrome [RCV003043767]	likely benign	11	66233951	66233951	Human	1	name
156128918	CV2184909	single nucleotide variant	NM_018026.4(PACS1):c.2105-13G>C	Schuurs-Hoeijmakers syndrome [RCV003039618]	likely benign	11	66235288	66235288	Human	1	name
405088125	CV2859090	single nucleotide variant	NM_018026.4(PACS1):c.2293+19T>A	Schuurs-Hoeijmakers syndrome [RCV003536224]	likely benign	11	66238865	66238865	Human	1	name
405089050	CV2866387	duplication	NM_018026.4(PACS1):c.1038+13dup	Schuurs-Hoeijmakers syndrome [RCV003536304]	likely benign	11	66219817	66219818	Human	1	name
405091308	CV2870971	single nucleotide variant	NM_018026.4(PACS1):c.2657-13G>A	Schuurs-Hoeijmakers syndrome [RCV003536489]	likely benign	11	66242899	66242899	Human	1	name
405082471	CV2905789	single nucleotide variant	NM_018026.4(PACS1):c.1293+12C>T	Schuurs-Hoeijmakers syndrome [RCV003535289]	likely benign	11	66221259	66221259	Human	1	name
405095219	CV2917072	duplication	NM_018026.4(PACS1):c.1627-16dup	Schuurs-Hoeijmakers syndrome [RCV003536850]	likely benign	11	66232153	66232154	Human	1	name
405147488	CV2931716	single nucleotide variant	NM_018026.4(PACS1):c.1994-20T>G	Schuurs-Hoeijmakers syndrome [RCV003538092]	likely benign	11	66234112	66234112	Human	1	name
405012331	CV2942708	single nucleotide variant	NM_018026.4(PACS1):c.1839-19C>A	Schuurs-Hoeijmakers syndrome [RCV003649462]	likely benign	11	66233766	66233766	Human	1	name
405013262	CV2949606	single nucleotide variant	NM_018026.4(PACS1):c.1375-17C>T	Schuurs-Hoeijmakers syndrome [RCV003649560]	likely benign	11	66230531	66230531	Human	1	name
405013630	CV2950698	single nucleotide variant	NM_018026.4(PACS1):c.2657-16C>G	Schuurs-Hoeijmakers syndrome [RCV003649579]	likely benign	11	66242896	66242896	Human	1	name
405013810	CV2955056	single nucleotide variant	NM_018026.4(PACS1):c.2293+20G>A	Schuurs-Hoeijmakers syndrome [RCV003649598]	likely benign	11	66238866	66238866	Human	1	name
405014584	CV2971157	single nucleotide variant	NM_018026.4(PACS1):c.1038+10C>G	Schuurs-Hoeijmakers syndrome [RCV003649679]	likely benign	11	66219815	66219815	Human	1	name
405014527	CV2974236	single nucleotide variant	NM_018026.4(PACS1):c.2656+11C>G	Schuurs-Hoeijmakers syndrome [RCV003649674]	likely benign	11	66241664	66241664	Human	1	name
405015631	CV2976439	single nucleotide variant	NM_018026.4(PACS1):c.2776+16G>C	Schuurs-Hoeijmakers syndrome [RCV003649810]	likely benign	11	66243047	66243047	Human	1	name
405023145	CV2983411	single nucleotide variant	NM_018026.4(PACS1):c.1627-16T>C	Schuurs-Hoeijmakers syndrome [RCV003651100]	likely benign	11	66232156	66232156	Human	1	name
405031513	CV3002834	single nucleotide variant	NM_018026.4(PACS1):c.2429+16G>T	Schuurs-Hoeijmakers syndrome [RCV003652318]	likely benign	11	66239293	66239293	Human	1	name
405041921	CV3018302	single nucleotide variant	NM_018026.4(PACS1):c.2104+14G>T	Schuurs-Hoeijmakers syndrome [RCV003653772]	likely benign	11	66234256	66234256	Human	1	name
405041726	CV3025127	deletion	NM_018026.4(PACS1):c.2250+12del	Schuurs-Hoeijmakers syndrome [RCV003653753]	likely benign	11	66235952	66235952	Human	1	name
405042403	CV3025128	single nucleotide variant	NM_018026.4(PACS1):c.2250+14C>T	Schuurs-Hoeijmakers syndrome [RCV003653754]	likely benign	11	66235954	66235954	Human	1	name
405042598	CV3025893	single nucleotide variant	NM_018026.4(PACS1):c.1038+16C>G	Schuurs-Hoeijmakers syndrome [RCV003653835]	likely benign	11	66219821	66219821	Human	1	name
405044506	CV3027696	single nucleotide variant	NM_018026.4(PACS1):c.1732-13C>T	Schuurs-Hoeijmakers syndrome [RCV003653993]	likely benign	11	66232947	66232947	Human	1	name
405041635	CV3028352	single nucleotide variant	NM_018026.4(PACS1):c.2293+12G>A	Schuurs-Hoeijmakers syndrome [RCV003653745]	likely benign	11	66238858	66238858	Human	1	name
405044890	CV3031895	single nucleotide variant	NM_018026.4(PACS1):c.2429+15C>T	Schuurs-Hoeijmakers syndrome [RCV003654028]	likely benign	11	66239292	66239292	Human	1	name
405045175	CV3032108	duplication	NM_018026.4(PACS1):c.1199+11dup	Schuurs-Hoeijmakers syndrome [RCV003654052]	benign	11	66220796	66220797	Human	1	name
405046506	CV3034007	single nucleotide variant	NM_018026.4(PACS1):c.1491-15C>G	Schuurs-Hoeijmakers syndrome [RCV003654164]	likely benign	11	66230790	66230790	Human	1	name
405045617	CV3041397	single nucleotide variant	NM_018026.4(PACS1):c.2294-17C>T	Schuurs-Hoeijmakers syndrome [RCV003654089]	likely benign	11	66239125	66239125	Human	1	name
405019445	CV3046051	single nucleotide variant	NM_018026.4(PACS1):c.2251-17C>A	Schuurs-Hoeijmakers syndrome [RCV003650239]	likely benign	11	66238787	66238787	Human	1	name
405038773	CV3074495	single nucleotide variant	NM_018026.4(PACS1):c.1627-19C>T	Schuurs-Hoeijmakers syndrome [RCV003653031]	likely benign	11	66232153	66232153	Human	1	name
405038663	CV3076997	deletion	NM_018026.4(PACS1):c.1374+11del	Schuurs-Hoeijmakers syndrome [RCV003653021]	likely benign	11	66227593	66227593	Human	1	name
407574091	CV3498440	single nucleotide variant	NM_018026.4(PACS1):c.1993+12A>T	Schuurs-Hoeijmakers syndrome [RCV005103563]\|not specified [RCV004702915]	likely benign	11	66233951	66233951	Human	1	name
596920580	CV3534054	deletion	NM_018026.4(PACS1):c.2429+16del	not specified [RCV004783272]	likely benign	11	66239293	66239293	Human		name
597950238	CV3768612	single nucleotide variant	NM_018026.4(PACS1):c.2657-15T>C	Schuurs-Hoeijmakers syndrome [RCV005120798]	likely benign	11	66242897	66242897	Human	1	name
597944629	CV3776646	single nucleotide variant	NM_018026.4(PACS1):c.2105-12G>C	Schuurs-Hoeijmakers syndrome [RCV005119502]	likely benign	11	66235289	66235289	Human	1	name
597965943	CV3793864	single nucleotide variant	NM_018026.4(PACS1):c.1375-20T>G	Schuurs-Hoeijmakers syndrome [RCV005140246]	likely benign	11	66230528	66230528	Human	1	name
597958803	CV3797378	single nucleotide variant	NM_018026.4(PACS1):c.1731+14C>T	Schuurs-Hoeijmakers syndrome [RCV005138065]	likely benign	11	66232290	66232290	Human	1	name
597972402	CV3812954	deletion	NM_018026.4(PACS1):c.2105-14del	Schuurs-Hoeijmakers syndrome [RCV005167407]	likely benign	11	66235286	66235286	Human	1	name
597957178	CV3814281	single nucleotide variant	NM_018026.4(PACS1):c.1627-15C>A	Schuurs-Hoeijmakers syndrome [RCV005162612]	likely benign	11	66232157	66232157	Human	1	name
597897434	CV3834725	single nucleotide variant	NM_018026.4(PACS1):c.2429+19C>T	Schuurs-Hoeijmakers syndrome [RCV005180636]	likely benign	11	66239296	66239296	Human	1	name
597890652	CV3839775	deletion	NM_018026.4(PACS1):c.1293+12del	Schuurs-Hoeijmakers syndrome [RCV005179667]	likely benign	11	66221258	66221258	Human	1	name
597876474	CV3846452	deletion	NM_018026.4(PACS1):c.2656+22del	Schuurs-Hoeijmakers syndrome [RCV005177335]	benign	11	66241672	66241672	Human	1	name
597959313	CV3848662	single nucleotide variant	NM_018026.4(PACS1):c.1627-19C>G	Schuurs-Hoeijmakers syndrome [RCV005192363]	likely benign	11	66232153	66232153	Human	1	name
597882326	CV3857569	single nucleotide variant	NM_018026.4(PACS1):c.1732-10C>T	Schuurs-Hoeijmakers syndrome [RCV005199190]	likely benign	11	66232950	66232950	Human	1	name
15121716	CV759932	single nucleotide variant	NM_018026.4(PACS1):c.1199+10C>G	Schuurs-Hoeijmakers syndrome [RCV002542157]\|not provided [RCV000918528]	benign\|likely benign	11	66220801	66220801	Human	1	name
15141750	CV787698	single nucleotide variant	NM_018026.4(PACS1):c.1199+10C>A	Schuurs-Hoeijmakers syndrome [RCV000983033]	likely benign	11	66220801	66220801	Human	1	name
150336337	CV1165036	single nucleotide variant	NM_018026.4(PACS1):c.2104+156C>T	not provided [RCV001530799]	benign	11	66234398	66234398	Human		name
150331564	CV1169471	single nucleotide variant	NM_018026.4(PACS1):c.1293+163G>A	not provided [RCV001536527]	likely benign	11	66221410	66221410	Human		name
150415862	CV1180853	single nucleotide variant	NM_018026.4(PACS1):c.1038+125G>A	not provided [RCV001549331]	likely benign	11	66219930	66219930	Human		name
150421943	CV1194526	single nucleotide variant	NM_018026.4(PACS1):c.1732-257G>T	not provided [RCV001570754]	likely benign	11	66232703	66232703	Human		name
150461302	CV1215788	single nucleotide variant	NM_018026.4(PACS1):c.1375-121A>G	not provided [RCV001613491]	benign	11	66230427	66230427	Human		name
150447113	CV1216064	single nucleotide variant	NM_018026.4(PACS1):c.2430-350A>G	not provided [RCV001611362]	benign	11	66241077	66241077	Human		name
150496985	CV1236947	single nucleotide variant	NM_018026.4(PACS1):c.1199+159C>T	not provided [RCV001656011]	benign	11	66220950	66220950	Human		name
150478857	CV1240572	single nucleotide variant	NM_018026.4(PACS1):c.1038+199T>C	not provided [RCV001652447]	benign	11	66220004	66220004	Human		name
150497117	CV1256652	single nucleotide variant	NM_018026.4(PACS1):c.1293+205T>C	not provided [RCV001676144]	benign	11	66221452	66221452	Human		name
150488579	CV1265270	single nucleotide variant	NM_018026.4(PACS1):c.1626+172G>A	not provided [RCV001687306]	benign	11	66231112	66231112	Human		name
150513435	CV1285165	single nucleotide variant	NM_018026.4(PACS1):c.1838+184G>A	not provided [RCV001722035]	benign	11	66233250	66233250	Human		name
150513447	CV1285169	single nucleotide variant	NM_018026.4(PACS1):c.2104+165A>T	not provided [RCV001722039]	benign	11	66234407	66234407	Human		name
150500681	CV1256146	microsatellite	NM_018026.4(PACS1):c.661-216AAT[15]	not provided [RCV001676770]	benign	11	66215903	66215905	Human		name
150504443	CV1285958	microsatellite	NM_018026.4(PACS1):c.661-216AAT[14]	not provided [RCV001719381]	benign	11	66215903	66215908	Human		name
405025291	CV3002473	duplication	NM_018026.4(PACS1):c.1291_1293+6dup	Schuurs-Hoeijmakers syndrome [RCV003651307]	uncertain significance	11	66221241	66221242	Human	1	name
150515995	CV1285725	microsatellite	NM_018026.4(PACS1):c.1731+240AAAC[4]	not provided [RCV001723178]	benign	11	66232515	66232516	Human		name
401909497	CV2813367	single nucleotide variant	NM_018026.4(PACS1):c.27T>C (p.Gly9=)	not provided [RCV003398010]	likely benign	11	66070513	66070513	Human		name
13829583	CV579735	single nucleotide variant	NM_018026.4(PACS1):c.21G>A (p.Ala7=)	Inborn genetic diseases [RCV002315439]	likely benign	11	66070507	66070507	Human	1	name
150469083	CV1268037	deletion	NM_018026.4(PACS1):c.2294-7_2294-6del	Schuurs-Hoeijmakers syndrome [RCV002073234]\|not provided [RCV001694900]\|not specified [RCV001821953]	benign\|likely benign	11	66239135	66239136	Human	1	name
152154573	CV1560807	microsatellite	NM_018026.4(PACS1):c.357-12_357-11del	Schuurs-Hoeijmakers syndrome [RCV002102748]	likely benign	11	66193471	66193472	Human		name
155992005	CV2149123	microsatellite	NM_018026.4(PACS1):c.2657-9_2657-6del	Schuurs-Hoeijmakers syndrome [RCV002996611]	likely benign	11	66242896	66242899	Human		name
156044257	CV2186337	deletion	NM_018026.4(PACS1):c.978+21_978+26del	Schuurs-Hoeijmakers syndrome [RCV003036685]	likely benign	11	66216794	66216799	Human	1	name
405143539	CV2872955	deletion	NM_018026.4(PACS1):c.445-16_445-15del	Schuurs-Hoeijmakers syndrome [RCV003537755]	likely benign	11	66210344	66210345	Human	1	name
405012919	CV2948217	deletion	NM_018026.4(PACS1):c.535-16_535-15del	Schuurs-Hoeijmakers syndrome [RCV003649522]	likely benign	11	66211117	66211118	Human	1	name
405021432	CV2985006	microsatellite	NM_018026.4(PACS1):c.660+13_660+14del	Schuurs-Hoeijmakers syndrome [RCV003650917]	likely benign	11	66211269	66211270	Human		name
15122797	CV784092	single nucleotide variant	NM_018026.4(PACS1):c.48C>T (p.Gly16=)	not provided [RCV000979709]	likely benign	11	66070534	66070534	Human		name
150422728	CV1180848	single nucleotide variant	NM_018026.4(PACS1):c.246G>A (p.Ser82=)	not provided [RCV001553032]	likely benign	11	66070732	66070732	Human		name
150521212	CV1290896	single nucleotide variant	NM_018026.4(PACS1):c.234G>C (p.Val78=)	not provided [RCV001732526]	likely benign	11	66070720	66070720	Human		name
8660289	CV135314	single nucleotide variant	NM_018026.4(PACS1):c.102G>A (p.Pro34=)	Inborn genetic diseases [RCV002312204]\|Schuurs-Hoeijmakers syndrome [RCV000525028]\|not provided [RCV001647135]\|not specified [RCV000117885]	benign\|likely benign	11	66070588	66070588	Human	2	name
155689395	CV1850529	single nucleotide variant	NM_018026.4(PACS1):c.219C>T (p.Ser73=)	Inborn genetic diseases [RCV002425653]	likely benign	11	66070705	66070705	Human	1	name
10404023	CV207891	single nucleotide variant	NM_018026.4(PACS1):c.135G>T (p.Pro45=)	not provided [RCV000919151]\|not specified [RCV000193972]	likely benign\|uncertain significance	11	66070621	66070621	Human		name
156077224	CV2170843	insertion	NM_018026.4(PACS1):c.660+19_660+20insA	Schuurs-Hoeijmakers syndrome [RCV003020231]	likely benign	11	66211278	66211279	Human	1	name
401915002	CV2830924	microsatellite	NM_018026.4(PACS1):c.1375-13_1375-9del	not provided [RCV003442663]	uncertain significance	11	66230530	66230534	Human		name
408380151	CV3511173	single nucleotide variant	NM_018026.4(PACS1):c.171C>G (p.Ser57=)	PACS1-related disorder [RCV004753972]	likely benign	11	66070657	66070657	Human		name , trait , alternate_id
13214457	CV429266	single nucleotide variant	NM_018026.4(PACS1):c.162C>G (p.Thr54=)	not specified [RCV000501290]	likely benign	11	66070648	66070648	Human		name
150410442	CV1177473	duplication	NM_018026.4(PACS1):c.661-217_661-215dup	not provided [RCV001546644]	likely benign	11	66215899	66215900	Human		name
150422557	CV1180851	deletion	NM_018026.4(PACS1):c.661-175_661-163del	not provided [RCV001552805]	likely benign	11	66215942	66215954	Human		name
150424056	CV1184554	single nucleotide variant	NM_018026.4(PACS1):c.909C>T (p.Tyr303=)	Schuurs-Hoeijmakers syndrome [RCV002568356]\|not provided [RCV001556156]	likely benign	11	66216706	66216706	Human	1	name
150433090	CV1203546	duplication	NM_018026.4(PACS1):c.661-168_661-166dup	not provided [RCV001581701]	likely benign	11	66215950	66215951	Human		name
150434381	CV1204334	single nucleotide variant	NM_018026.4(PACS1):c.489T>A (p.Ala163=)	not provided [RCV001582083]	likely benign	11	66210406	66210406	Human		name
150500756	CV1238242	single nucleotide variant	NM_018026.4(PACS1):c.631T>C (p.Leu211=)	Inborn genetic diseases [RCV002359209]\|Schuurs-Hoeijmakers syndrome [RCV002538529]\|not provided [RCV001656672]	benign\|likely benign	11	66211230	66211230	Human	2	name
150535812	CV1312047	single nucleotide variant	NM_018026.4(PACS1):c.74T>G (p.Val25Gly)	not provided [RCV001779858]	likely benign	11	66070560	66070560	Human		name
151662352	CV1333053	single nucleotide variant	NM_018026.4(PACS1):c.65G>A (p.Gly22Glu)	Schuurs-Hoeijmakers syndrome [RCV001837286]	uncertain significance	11	66070551	66070551	Human	1	name
152088965	CV1603373	single nucleotide variant	NM_018026.4(PACS1):c.384C>T (p.Leu128=)	Schuurs-Hoeijmakers syndrome [RCV002077444]	likely benign	11	66193513	66193513	Human	1	name
155682221	CV1795720	single nucleotide variant	NM_018026.4(PACS1):c.342C>T (p.Ser114=)	Inborn genetic diseases [RCV002457009]	likely benign	11	66070828	66070828	Human	1	name
155728841	CV1813045	single nucleotide variant	NM_018026.4(PACS1):c.729G>T (p.Val243=)	Inborn genetic diseases [RCV002382739]\|Schuurs-Hoeijmakers syndrome [RCV003098532]	likely benign	11	66216187	66216187	Human	2	name
156120105	CV1873916	single nucleotide variant	NM_018026.4(PACS1):c.915C>T (p.Asp305=)	Schuurs-Hoeijmakers syndrome [RCV003081402]	likely benign	11	66216712	66216712	Human	1	name
156409631	CV1881439	single nucleotide variant	NM_018026.4(PACS1):c.471C>T (p.Asn157=)	Schuurs-Hoeijmakers syndrome [RCV003071751]	likely benign	11	66210388	66210388	Human	1	name
156336573	CV1906093	single nucleotide variant	NM_018026.4(PACS1):c.777C>T (p.Asp259=)	Schuurs-Hoeijmakers syndrome [RCV003090101]	likely benign	11	66216235	66216235	Human	1	name
156040245	CV1929533	single nucleotide variant	NM_018026.4(PACS1):c.978G>A (p.Arg326=)	Schuurs-Hoeijmakers syndrome [RCV002637545]	likely benign	11	66216775	66216775	Human	1	name
156444043	CV1937560	single nucleotide variant	NM_018026.4(PACS1):c.798G>A (p.Lys266=)	PACS1-related disorder [RCV003936699]\|Schuurs-Hoeijmakers syndrome [RCV003114960]	likely benign	11	66216256	66216256	Human	1	name , trait , alternate_id
155943347	CV2002840	single nucleotide variant	NM_018026.4(PACS1):c.477C>T (p.Ile159=)	Schuurs-Hoeijmakers syndrome [RCV002685602]	likely benign	11	66210394	66210394	Human	1	name
156348691	CV2005413	single nucleotide variant	NM_018026.4(PACS1):c.976A>C (p.Arg326=)	Schuurs-Hoeijmakers syndrome [RCV002650718]	likely benign	11	66216773	66216773	Human	1	name
156180915	CV2023346	single nucleotide variant	NM_018026.4(PACS1):c.517T>C (p.Leu173=)	Schuurs-Hoeijmakers syndrome [RCV002765611]	likely benign	11	66210434	66210434	Human	1	name
156294959	CV2047426	single nucleotide variant	NM_018026.4(PACS1):c.951A>G (p.Lys317=)	Schuurs-Hoeijmakers syndrome [RCV002770932]	likely benign	11	66216748	66216748	Human	1	name
156106694	CV2061872	single nucleotide variant	NM_018026.4(PACS1):c.429C>A (p.Ile143=)	Schuurs-Hoeijmakers syndrome [RCV002824757]	likely benign	11	66193558	66193558	Human	1	name
156064658	CV2065526	single nucleotide variant	NM_018026.4(PACS1):c.618G>A (p.Leu206=)	Schuurs-Hoeijmakers syndrome [RCV002846888]	likely benign	11	66211217	66211217	Human	1	name
155952383	CV2076474	single nucleotide variant	NM_018026.4(PACS1):c.927G>A (p.Arg309=)	Schuurs-Hoeijmakers syndrome [RCV002862417]	likely benign	11	66216724	66216724	Human	1	name
155907494	CV2077444	single nucleotide variant	NM_018026.4(PACS1):c.801T>C (p.Leu267=)	Schuurs-Hoeijmakers syndrome [RCV002858245]	likely benign	11	66216259	66216259	Human	1	name
10404454	CV207888	single nucleotide variant	NM_018026.4(PACS1):c.83C>G (p.Ser28Cys)	Inborn genetic diseases [RCV002433870]\|PACS1-related disorder [RCV003927801]\|not specified [RCV000195112]	likely benign\|uncertain significance	11	66070569	66070569	Human	2	name , trait , alternate_id
156222943	CV2080427	single nucleotide variant	NM_018026.4(PACS1):c.753C>T (p.Tyr251=)	Schuurs-Hoeijmakers syndrome [RCV002875940]	likely benign	11	66216211	66216211	Human	1	name
155904367	CV2084063	single nucleotide variant	NM_018026.4(PACS1):c.969C>T (p.Ala323=)	Schuurs-Hoeijmakers syndrome [RCV002858057]	likely benign	11	66216766	66216766	Human	1	name
155934920	CV2129453	single nucleotide variant	NM_018026.4(PACS1):c.429C>T (p.Ile143=)	Schuurs-Hoeijmakers syndrome [RCV002970871]	likely benign	11	66193558	66193558	Human	1	name
156320138	CV2138009	single nucleotide variant	NM_018026.4(PACS1):c.642A>T (p.Gly214=)	Schuurs-Hoeijmakers syndrome [RCV002963141]	likely benign	11	66211241	66211241	Human	1	name
156012424	CV2172354	single nucleotide variant	NM_018026.4(PACS1):c.549T>C (p.Leu183=)	Schuurs-Hoeijmakers syndrome [RCV003035314]	likely benign	11	66211148	66211148	Human	1	name
156022910	CV2184702	single nucleotide variant	NM_018026.4(PACS1):c.510G>A (p.Glu170=)	Schuurs-Hoeijmakers syndrome [RCV003035819]	likely benign	11	66210427	66210427	Human	1	name
156162469	CV2323535	single nucleotide variant	NM_018026.4(PACS1):c.46G>T (p.Gly16Cys)	Inborn genetic diseases [RCV002929358]	uncertain significance	11	66070532	66070532	Human	1	name
329368314	CV2427975	single nucleotide variant	NM_018026.4(PACS1):c.77C>T (p.Ala26Val)	Inborn genetic diseases [RCV003183553]	likely benign	11	66070563	66070563	Human	1	name
401748277	CV2696327	single nucleotide variant	NM_018026.4(PACS1):c.89A>C (p.Gln30Pro)	Inborn genetic diseases [RCV003276184]	uncertain significance	11	66070575	66070575	Human	1	name
401748280	CV2696328	single nucleotide variant	NM_018026.4(PACS1):c.95C>A (p.Pro32Gln)	Inborn genetic diseases [RCV003276185]	uncertain significance	11	66070581	66070581	Human	1	name
405087773	CV2865295	single nucleotide variant	NM_018026.4(PACS1):c.588G>A (p.Arg196=)	Schuurs-Hoeijmakers syndrome [RCV003536191]	likely benign	11	66211187	66211187	Human	1	name
405090216	CV2877364	single nucleotide variant	NM_018026.4(PACS1):c.945G>A (p.Arg315=)	Schuurs-Hoeijmakers syndrome [RCV003536399]	likely benign	11	66216742	66216742	Human	1	name
405082771	CV2898598	single nucleotide variant	NM_018026.4(PACS1):c.630C>T (p.Thr210=)	Schuurs-Hoeijmakers syndrome [RCV003535148]	likely benign	11	66211229	66211229	Human	1	name
405146175	CV2931205	single nucleotide variant	NM_018026.4(PACS1):c.585A>G (p.Gln195=)	Schuurs-Hoeijmakers syndrome [RCV003538037]	likely benign	11	66211184	66211184	Human	1	name
405012994	CV2945607	single nucleotide variant	NM_018026.4(PACS1):c.651C>T (p.Asn217=)	Schuurs-Hoeijmakers syndrome [RCV003649531]	likely benign	11	66211250	66211250	Human	1	name
405013785	CV2958355	single nucleotide variant	NM_018026.4(PACS1):c.483T>C (p.Leu161=)	Schuurs-Hoeijmakers syndrome [RCV003649595]	likely benign	11	66210400	66210400	Human	1	name
405014741	CV2964744	single nucleotide variant	NM_018026.4(PACS1):c.372C>T (p.Thr124=)	Schuurs-Hoeijmakers syndrome [RCV003649698]	likely benign	11	66193501	66193501	Human	1	name
405015298	CV2965769	single nucleotide variant	NM_018026.4(PACS1):c.600C>T (p.Tyr200=)	Schuurs-Hoeijmakers syndrome [RCV003649764]	likely benign	11	66211199	66211199	Human	1	name
405032566	CV3000879	single nucleotide variant	NM_018026.4(PACS1):c.687A>G (p.Ala229=)	Schuurs-Hoeijmakers syndrome [RCV003652420]	likely benign	11	66216145	66216145	Human	1	name
408391320	CV3523147	single nucleotide variant	NM_018026.4(PACS1):c.67T>G (p.Ser23Ala)	not provided [RCV004770519]	uncertain significance	11	66070553	66070553	Human		name
596931007	CV3529849	deletion	NM_018026.4(PACS1):c.289del (p.Ala97fs)	not provided [RCV004780899]	uncertain significance	11	66070775	66070775	Human		name
596920579	CV3534053	inversion	NM_018026.4(PACS1):c.2429+10_2429+11inv	not specified [RCV004783271]	likely benign	11	66239287	66239288	Human		name
597923489	CV3777869	single nucleotide variant	NM_018026.4(PACS1):c.723C>T (p.Val241=)	Schuurs-Hoeijmakers syndrome [RCV005130593]	likely benign	11	66216181	66216181	Human	1	name
597909429	CV3830022	single nucleotide variant	NM_018026.4(PACS1):c.381A>G (p.Lys127=)	Schuurs-Hoeijmakers syndrome [RCV005182591]	likely benign	11	66193510	66193510	Human	1	name
597960969	CV3840371	single nucleotide variant	NM_018026.4(PACS1):c.363C>T (p.Phe121=)	Schuurs-Hoeijmakers syndrome [RCV005192855]	likely benign	11	66193492	66193492	Human	1	name
597937754	CV3862622	single nucleotide variant	NM_018026.4(PACS1):c.942C>G (p.Thr314=)	Schuurs-Hoeijmakers syndrome [RCV005207894]	likely benign	11	66216739	66216739	Human	1	name
13215890	CV429267	single nucleotide variant	NM_018026.4(PACS1):c.537C>T (p.Tyr179=)	not specified [RCV000503075]	likely benign	11	66211136	66211136	Human		name
13828589	CV579732	single nucleotide variant	NM_018026.4(PACS1):c.858A>C (p.Ser286=)	Inborn genetic diseases [RCV002312751]\|Schuurs-Hoeijmakers syndrome [RCV000951763]\|not provided [RCV001683638]	benign\|likely benign	11	66216572	66216572	Human	2	name
13829958	CV579752	single nucleotide variant	NM_018026.4(PACS1):c.636C>T (p.Ala212=)	Inborn genetic diseases [RCV002318751]\|Schuurs-Hoeijmakers syndrome [RCV003534750]\|not provided [RCV003886432]	likely benign	11	66211235	66211235	Human	2	name
13829277	CV579759	single nucleotide variant	NM_018026.4(PACS1):c.711C>T (p.Asn237=)	Inborn genetic diseases [RCV002313567]\|Schuurs-Hoeijmakers syndrome [RCV002534558]\|not provided [RCV001569425]	likely benign	11	66216169	66216169	Human	2	name
13828982	CV579760	single nucleotide variant	NM_018026.4(PACS1):c.957C>G (p.Thr319=)	Inborn genetic diseases [RCV002314402]\|Schuurs-Hoeijmakers syndrome [RCV000877854]\|not provided [RCV001683641]	benign\|likely benign	11	66216754	66216754	Human	2	name
13829136	CV579941	single nucleotide variant	NM_018026.4(PACS1):c.44G>C (p.Gly15Ala)	Inborn genetic diseases [RCV002314559]	likely benign\|uncertain significance	11	66070530	66070530	Human	1	name
13829585	CV579947	single nucleotide variant	NM_018026.4(PACS1):c.348C>T (p.Cys116=)	Inborn genetic diseases [RCV002315442]\|not provided [RCV001553064]	likely benign	11	66070834	66070834	Human	1	name
15178814	CV701901	single nucleotide variant	NM_018026.4(PACS1):c.399A>G (p.Glu133=)	Inborn genetic diseases [RCV002372651]\|Schuurs-Hoeijmakers syndrome [RCV002066278]\|not provided [RCV000951371]	likely benign	11	66193528	66193528	Human	2	name
15105216	CV724620	single nucleotide variant	NM_018026.4(PACS1):c.684C>T (p.Gly228=)	Schuurs-Hoeijmakers syndrome [RCV002539406]\|not provided [RCV000893038]\|not specified [RCV001818679]	benign	11	66216142	66216142	Human	1	name
15182763	CV738157	single nucleotide variant	NM_018026.4(PACS1):c.573G>A (p.Gln191=)	Schuurs-Hoeijmakers syndrome [RCV002065767]\|not provided [RCV000907903]	likely benign	11	66211172	66211172	Human	1	name
126732974	CV1000746	single nucleotide variant	NM_018026.4(PACS1):c.2616C>T (p.Thr872=)	Schuurs-Hoeijmakers syndrome [RCV002543566]\|not provided [RCV001310968]	likely benign	11	66241613	66241613	Human	1	name
150337471	CV1166013	single nucleotide variant	NM_018026.4(PACS1):c.1182G>A (p.Thr394=)	Inborn genetic diseases [RCV002334586]\|Schuurs-Hoeijmakers syndrome [RCV002568211]\|not provided [RCV001532646]	benign\|likely benign	11	66220774	66220774	Human	2	name
150416058	CV1198234	single nucleotide variant	NM_018026.4(PACS1):c.1464G>A (p.Thr488=)	Schuurs-Hoeijmakers syndrome [RCV002568485]\|not provided [RCV001575669]	likely benign	11	66230637	66230637	Human	1	name
150454738	CV1220336	single nucleotide variant	NM_018026.4(PACS1):c.1881T>C (p.Ala627=)	Schuurs-Hoeijmakers syndrome [RCV003538811]\|not provided [RCV001612428]	benign	11	66233827	66233827	Human	1	name
150435385	CV1244401	single nucleotide variant	NM_018026.4(PACS1):c.1389G>A (p.Gln463=)	Schuurs-Hoeijmakers syndrome [RCV003538812]\|not provided [RCV001665392]	likely benign	11	66230562	66230562	Human	1	name
150454912	CV1277091	single nucleotide variant	NM_018026.4(PACS1):c.1233C>T (p.Ser411=)	Schuurs-Hoeijmakers syndrome [RCV002539721]\|not provided [RCV001708883]\|not specified [RCV001821959]	benign\|likely benign	11	66221187	66221187	Human	1	name
150548842	CV1294543	single nucleotide variant	NM_018026.4(PACS1):c.106C>G (p.Gln36Glu)	not provided [RCV001752035]	uncertain significance	11	66070592	66070592	Human		name
150547023	CV1302928	single nucleotide variant	NM_018026.4(PACS1):c.154C>T (p.Gln52Ter)	not provided [RCV001763673]	uncertain significance	11	66070640	66070640	Human		name
150556773	CV1305709	single nucleotide variant	NM_018026.4(PACS1):c.136A>G (p.Thr46Ala)	not provided [RCV001774699]	uncertain significance	11	66070622	66070622	Human		name
151233566	CV1317132	single nucleotide variant	NM_018026.4(PACS1):c.113A>C (p.Gln38Pro)	not provided [RCV001786953]	likely benign	11	66070599	66070599	Human		name
151353718	CV1327270	single nucleotide variant	NM_018026.4(PACS1):c.1506G>A (p.Val502=)	Schuurs-Hoeijmakers syndrome [RCV002074273]\|not specified [RCV001817214]	likely benign	11	66230820	66230820	Human	1	name
151354769	CV1327836	single nucleotide variant	NM_018026.4(PACS1):c.206C>T (p.Ser69Phe)	Inborn genetic diseases [RCV002422871]\|not specified [RCV001819311]	likely benign	11	66070692	66070692	Human	1	name
8660291	CV135316	single nucleotide variant	NM_018026.4(PACS1):c.2061T>A (p.Ser687=)	Inborn genetic diseases [RCV002312205]\|Schuurs-Hoeijmakers syndrome [RCV000554209]\|not provided [RCV001696178]\|not specified [RCV000117887]	benign\|likely benign	11	66234199	66234199	Human	2	name
151800132	CV1426515	single nucleotide variant	NM_018026.4(PACS1):c.2514C>T (p.Gly838=)	Inborn genetic diseases [RCV002425371]\|Schuurs-Hoeijmakers syndrome [RCV001990875]	benign\|likely benign\|uncertain significance	11	66241511	66241511	Human	2	name
151777264	CV1449558	single nucleotide variant	NM_018026.4(PACS1):c.1041G>A (p.Val347=)	Schuurs-Hoeijmakers syndrome [RCV002009405]	likely benign\|uncertain significance	11	66220633	66220633	Human	1	name
152140927	CV1520453	single nucleotide variant	NM_018026.4(PACS1):c.1866G>A (p.Arg622=)	Schuurs-Hoeijmakers syndrome [RCV002178047]	likely benign	11	66233812	66233812	Human	1	name
152122055	CV1521544	single nucleotide variant	NM_018026.4(PACS1):c.2715G>A (p.Gln905=)	Schuurs-Hoeijmakers syndrome [RCV002135833]	likely benign	11	66242970	66242970	Human	1	name
152100252	CV1524764	single nucleotide variant	NM_018026.4(PACS1):c.1788C>T (p.Thr596=)	Schuurs-Hoeijmakers syndrome [RCV002173001]\|not provided [RCV003326605]	likely benign	11	66233016	66233016	Human	1	name
152060821	CV1540871	single nucleotide variant	NM_018026.4(PACS1):c.2313T>C (p.Pro771=)	Schuurs-Hoeijmakers syndrome [RCV002190501]	likely benign	11	66239161	66239161	Human	1	name
152121530	CV1547588	single nucleotide variant	NM_018026.4(PACS1):c.2859A>G (p.Pro953=)	Schuurs-Hoeijmakers syndrome [RCV002081617]	likely benign	11	66243247	66243247	Human	1	name
152138416	CV1565033	single nucleotide variant	NM_018026.4(PACS1):c.2793C>T (p.Val931=)	Schuurs-Hoeijmakers syndrome [RCV002083830]	likely benign	11	66243181	66243181	Human	1	name
152128239	CV1573981	single nucleotide variant	NM_018026.4(PACS1):c.1821C>T (p.Leu607=)	Schuurs-Hoeijmakers syndrome [RCV002155166]	likely benign	11	66233049	66233049	Human	1	name
152170601	CV1578247	single nucleotide variant	NM_018026.4(PACS1):c.1956C>T (p.Asp652=)	Schuurs-Hoeijmakers syndrome [RCV002183210]	likely benign	11	66233902	66233902	Human	1	name
152055857	CV1588070	single nucleotide variant	NM_018026.4(PACS1):c.1587C>T (p.Ser529=)	Schuurs-Hoeijmakers syndrome [RCV002189952]	likely benign	11	66230901	66230901	Human	1	name
152134334	CV1601317	single nucleotide variant	NM_018026.4(PACS1):c.1353C>T (p.Ser451=)	Schuurs-Hoeijmakers syndrome [RCV002099910]	likely benign	11	66227563	66227563	Human	1	name
152042622	CV1621728	single nucleotide variant	NM_018026.4(PACS1):c.1221G>A (p.Ser407=)	Schuurs-Hoeijmakers syndrome [RCV002107950]\|not provided [RCV003403695]	likely benign	11	66221175	66221175	Human	1	name
152165324	CV1649144	single nucleotide variant	NM_018026.4(PACS1):c.1239G>A (p.Thr413=)	Schuurs-Hoeijmakers syndrome [RCV002204219]	likely benign	11	66221193	66221193	Human	1	name
152978514	CV1671686	single nucleotide variant	NM_018026.4(PACS1):c.1992C>T (p.Leu664=)	Schuurs-Hoeijmakers syndrome [RCV002227791]	uncertain significance	11	66233938	66233938	Human	1	name
155724370	CV1817679	single nucleotide variant	NM_018026.4(PACS1):c.1272C>T (p.Leu424=)	Inborn genetic diseases [RCV002449986]\|Schuurs-Hoeijmakers syndrome [RCV003534886]	likely benign	11	66221226	66221226	Human	2	name
155712851	CV1833357	single nucleotide variant	NM_018026.4(PACS1):c.1476C>T (p.Gly492=)	Inborn genetic diseases [RCV002397037]	likely benign	11	66230649	66230649	Human	1	name
155734229	CV1842819	single nucleotide variant	NM_018026.4(PACS1):c.1068C>T (p.Arg356=)	Inborn genetic diseases [RCV002408390]\|Schuurs-Hoeijmakers syndrome [RCV003100927]\|not specified [RCV004587354]	likely benign	11	66220660	66220660	Human	2	name
155700430	CV1844456	single nucleotide variant	NM_018026.4(PACS1):c.224C>T (p.Ser75Phe)	Inborn genetic diseases [RCV002428443]	uncertain significance	11	66070710	66070710	Human	1	name
155678538	CV1851641	single nucleotide variant	NM_018026.4(PACS1):c.2526C>T (p.Asp842=)	Inborn genetic diseases [RCV002455692]	benign	11	66241523	66241523	Human	1	name
155803586	CV1858148	single nucleotide variant	NM_018026.4(PACS1):c.221C>T (p.Thr74Ile)	not provided [RCV002462457]	uncertain significance	11	66070707	66070707	Human		name
156408137	CV1873264	single nucleotide variant	NM_018026.4(PACS1):c.2172C>T (p.Pro724=)	Schuurs-Hoeijmakers syndrome [RCV003071148]	likely benign	11	66235368	66235368	Human	1	name
156058718	CV1876066	single nucleotide variant	NM_018026.4(PACS1):c.1539G>C (p.Leu513=)	Schuurs-Hoeijmakers syndrome [RCV003053264]	likely benign	11	66230853	66230853	Human	1	name
156015678	CV1885183	single nucleotide variant	NM_018026.4(PACS1):c.2766T>G (p.Thr922=)	Schuurs-Hoeijmakers syndrome [RCV003077346]	likely benign	11	66243021	66243021	Human	1	name
156410237	CV1888368	single nucleotide variant	NM_018026.4(PACS1):c.1305T>A (p.Ala435=)	Schuurs-Hoeijmakers syndrome [RCV003071988]	likely benign	11	66227515	66227515	Human	1	name
156145690	CV1895102	single nucleotide variant	NM_018026.4(PACS1):c.1950C>T (p.Thr650=)	Schuurs-Hoeijmakers syndrome [RCV003082371]	likely benign	11	66233896	66233896	Human	1	name
156003190	CV1895746	single nucleotide variant	NM_018026.4(PACS1):c.2373C>T (p.Asp791=)	Schuurs-Hoeijmakers syndrome [RCV003098898]\|not provided [RCV003404083]	likely benign	11	66239221	66239221	Human	1	name
156211918	CV1902490	single nucleotide variant	NM_018026.4(PACS1):c.2628T>C (p.Thr876=)	PACS1-related disorder [RCV003953884]\|Schuurs-Hoeijmakers syndrome [RCV003084631]	likely benign	11	66241625	66241625	Human	1	name , trait , alternate_id
156340366	CV1902653	single nucleotide variant	NM_018026.4(PACS1):c.2079C>T (p.Phe693=)	Schuurs-Hoeijmakers syndrome [RCV003090328]	likely benign	11	66234217	66234217	Human	1	name
156092777	CV1909883	single nucleotide variant	NM_018026.4(PACS1):c.1050G>A (p.Gly350=)	Schuurs-Hoeijmakers syndrome [RCV002591972]	likely benign	11	66220642	66220642	Human	1	name
156311509	CV1913575	single nucleotide variant	NM_018026.4(PACS1):c.2349C>A (p.Pro783=)	Schuurs-Hoeijmakers syndrome [RCV002599685]	likely benign	11	66239197	66239197	Human	1	name
156394338	CV1930918	single nucleotide variant	NM_018026.4(PACS1):c.1812C>T (p.Ser604=)	Schuurs-Hoeijmakers syndrome [RCV002654734]	likely benign	11	66233040	66233040	Human	1	name
156363092	CV1931881	single nucleotide variant	NM_018026.4(PACS1):c.1383T>C (p.Thr461=)	Schuurs-Hoeijmakers syndrome [RCV002632813]	likely benign	11	66230556	66230556	Human	1	name
156302205	CV1933553	single nucleotide variant	NM_018026.4(PACS1):c.2379G>A (p.Thr793=)	Schuurs-Hoeijmakers syndrome [RCV002629304]	likely benign	11	66239227	66239227	Human	1	name
156436033	CV1937302	single nucleotide variant	NM_018026.4(PACS1):c.1200G>A (p.Lys400=)	Schuurs-Hoeijmakers syndrome [RCV003105162]	uncertain significance	11	66221154	66221154	Human	1	name
156446294	CV1951330	single nucleotide variant	NM_018026.4(PACS1):c.1137C>T (p.Ser379=)	Schuurs-Hoeijmakers syndrome [RCV003117266]	likely benign	11	66220729	66220729	Human	1	name
156245499	CV1956944	single nucleotide variant	NM_018026.4(PACS1):c.2484G>A (p.Leu828=)	Schuurs-Hoeijmakers syndrome [RCV002576371]	likely benign	11	66241481	66241481	Human	1	name
156076566	CV1979273	single nucleotide variant	NM_018026.4(PACS1):c.1086G>A (p.Val362=)	Schuurs-Hoeijmakers syndrome [RCV002621408]	likely benign	11	66220678	66220678	Human	1	name
155935573	CV2023944	single nucleotide variant	NM_018026.4(PACS1):c.1095C>T (p.Asp365=)	Schuurs-Hoeijmakers syndrome [RCV002774843]	likely benign	11	66220687	66220687	Human	1	name
156146049	CV2026612	single nucleotide variant	NM_018026.4(PACS1):c.1536C>T (p.Pro512=)	Schuurs-Hoeijmakers syndrome [RCV002741068]	likely benign	11	66230850	66230850	Human	1	name
156231662	CV2039755	single nucleotide variant	NM_018026.4(PACS1):c.1431G>A (p.Glu477=)	Schuurs-Hoeijmakers syndrome [RCV002805338]	likely benign	11	66230604	66230604	Human	1	name
156374289	CV2052912	single nucleotide variant	NM_018026.4(PACS1):c.1105T>C (p.Leu369=)	Schuurs-Hoeijmakers syndrome [RCV002814559]	likely benign	11	66220697	66220697	Human	1	name
156279758	CV2054869	single nucleotide variant	NM_018026.4(PACS1):c.2502G>T (p.Arg834=)	Schuurs-Hoeijmakers syndrome [RCV002832798]	likely benign	11	66241499	66241499	Human	1	name
156294033	CV2065217	single nucleotide variant	NM_018026.4(PACS1):c.1609C>T (p.Leu537=)	Schuurs-Hoeijmakers syndrome [RCV002856868]	likely benign	11	66230923	66230923	Human	1	name
10403518	CV207890	single nucleotide variant	NM_018026.4(PACS1):c.104A>C (p.Gln35Pro)	PACS1-related disorder [RCV003927800]\|not provided [RCV001640288]\|not specified [RCV000192728]	benign\|likely benign\|uncertain significance	11	66070590	66070590	Human	1	name , trait , alternate_id
10404478	CV207892	single nucleotide variant	NM_018026.4(PACS1):c.1803C>T (p.Ala601=)	Schuurs-Hoeijmakers syndrome [RCV003650445]\|not specified [RCV000195169]	likely benign\|uncertain significance	11	66233031	66233031	Human	1	name
10403641	CV207893	single nucleotide variant	NM_018026.4(PACS1):c.2139C>T (p.Tyr713=)	Inborn genetic diseases [RCV002426927]\|PACS1-related disorder [RCV003977520]\|Schuurs-Hoeijmakers syndrome [RCV002057007]\|not provided [RCV000954027]\|not specified [RCV000193039]	benign\|likely benign\|uncertain significance	11	66235335	66235335	Human	2	name , trait , alternate_id
156259302	CV2090195	single nucleotide variant	NM_018026.4(PACS1):c.2502G>A (p.Arg834=)	Schuurs-Hoeijmakers syndrome [RCV002877213]	likely benign	11	66241499	66241499	Human	1	name
156050485	CV2091411	single nucleotide variant	NM_018026.4(PACS1):c.2295C>T (p.Gly765=)	Schuurs-Hoeijmakers syndrome [RCV002886145]	likely benign	11	66239143	66239143	Human	1	name
156262126	CV2095407	single nucleotide variant	NM_018026.4(PACS1):c.2391C>T (p.Pro797=)	Schuurs-Hoeijmakers syndrome [RCV002895619]	likely benign	11	66239239	66239239	Human	1	name
156153673	CV2100412	single nucleotide variant	NM_018026.4(PACS1):c.2871C>T (p.Phe957=)	Schuurs-Hoeijmakers syndrome [RCV002872408]	likely benign	11	66243259	66243259	Human	1	name
156303114	CV2105071	single nucleotide variant	NM_018026.4(PACS1):c.2028C>T (p.Val676=)	Schuurs-Hoeijmakers syndrome [RCV002922679]	likely benign	11	66234166	66234166	Human	1	name
156094496	CV2106375	single nucleotide variant	NM_018026.4(PACS1):c.2535G>A (p.Ser845=)	Schuurs-Hoeijmakers syndrome [RCV002952491]\|not provided [RCV005242288]	likely benign	11	66241532	66241532	Human	1	name
156028856	CV2116712	single nucleotide variant	NM_018026.4(PACS1):c.2283C>T (p.Pro761=)	PACS1-related disorder [RCV003973556]\|Schuurs-Hoeijmakers syndrome [RCV002923422]	benign\|likely benign	11	66238836	66238836	Human	1	name , trait , alternate_id
156017820	CV2120666	single nucleotide variant	NM_018026.4(PACS1):c.1875G>A (p.Lys625=)	Schuurs-Hoeijmakers syndrome [RCV002975997]	likely benign	11	66233821	66233821	Human	1	name
156011087	CV2124591	single nucleotide variant	NM_018026.4(PACS1):c.1863G>A (p.Pro621=)	Schuurs-Hoeijmakers syndrome [RCV002948270]	likely benign	11	66233809	66233809	Human	1	name
155935550	CV2125650	single nucleotide variant	NM_018026.4(PACS1):c.1533G>A (p.Thr511=)	Schuurs-Hoeijmakers syndrome [RCV002970916]	likely benign	11	66230847	66230847	Human	1	name
156103615	CV2132409	single nucleotide variant	NM_018026.4(PACS1):c.1737G>T (p.Val579=)	Schuurs-Hoeijmakers syndrome [RCV003002310]	likely benign	11	66232965	66232965	Human	1	name
156216092	CV2136034	single nucleotide variant	NM_018026.4(PACS1):c.1707G>A (p.Val569=)	PACS1-related disorder [RCV003963550]\|Schuurs-Hoeijmakers syndrome [RCV003007186]	likely benign	11	66232252	66232252	Human	1	name , trait , alternate_id
156033575	CV2142300	single nucleotide variant	NM_018026.4(PACS1):c.1197C>G (p.Leu399=)	Schuurs-Hoeijmakers syndrome [RCV002976709]	likely benign	11	66220789	66220789	Human	1	name
156123389	CV2148198	single nucleotide variant	NM_018026.4(PACS1):c.1809G>C (p.Leu603=)	Schuurs-Hoeijmakers syndrome [RCV003003070]	likely benign	11	66233037	66233037	Human	1	name
155984108	CV2153703	single nucleotide variant	NM_018026.4(PACS1):c.1068C>G (p.Arg356=)	Schuurs-Hoeijmakers syndrome [RCV003016517]	likely benign	11	66220660	66220660	Human	1	name
155940503	CV2157994	single nucleotide variant	NM_018026.4(PACS1):c.1284C>A (p.Thr428=)	Schuurs-Hoeijmakers syndrome [RCV003014234]	likely benign	11	66221238	66221238	Human	1	name
155978498	CV2166846	single nucleotide variant	NM_018026.4(PACS1):c.2253G>A (p.Val751=)	Schuurs-Hoeijmakers syndrome [RCV003033766]	likely benign	11	66238806	66238806	Human	1	name
156318150	CV2169487	single nucleotide variant	NM_018026.4(PACS1):c.2199G>A (p.Arg733=)	Schuurs-Hoeijmakers syndrome [RCV003028985]	likely benign	11	66235395	66235395	Human	1	name
156066006	CV2170751	single nucleotide variant	NM_018026.4(PACS1):c.1059T>C (p.His353=)	Schuurs-Hoeijmakers syndrome [RCV003019891]	likely benign	11	66220651	66220651	Human	1	name
156231199	CV2173016	single nucleotide variant	NM_018026.4(PACS1):c.2421C>T (p.Ala807=)	Schuurs-Hoeijmakers syndrome [RCV003059311]	likely benign	11	66239269	66239269	Human	1	name
156108449	CV2177178	single nucleotide variant	NM_018026.4(PACS1):c.1773G>C (p.Val591=)	Schuurs-Hoeijmakers syndrome [RCV003054996]	likely benign	11	66233001	66233001	Human	1	name
156174499	CV2181368	single nucleotide variant	NM_018026.4(PACS1):c.2250C>G (p.Gly750=)	Schuurs-Hoeijmakers syndrome [RCV003057325]	uncertain significance	11	66235940	66235940	Human	1	name
156304551	CV2187924	single nucleotide variant	NM_018026.4(PACS1):c.1950C>A (p.Thr650=)	Schuurs-Hoeijmakers syndrome [RCV003062121]	likely benign	11	66233896	66233896	Human	1	name
156042323	CV2188030	single nucleotide variant	NM_018026.4(PACS1):c.1671G>T (p.Val557=)	Schuurs-Hoeijmakers syndrome [RCV003036617]	likely benign	11	66232216	66232216	Human	1	name
156240005	CV2188810	single nucleotide variant	NM_018026.4(PACS1):c.2424C>T (p.Ile808=)	Schuurs-Hoeijmakers syndrome [RCV003059623]	likely benign	11	66239272	66239272	Human	1	name
156127918	CV2223860	single nucleotide variant	NM_018026.4(PACS1):c.125C>T (p.Pro42Leu)	Inborn genetic diseases [RCV002708271]	uncertain significance	11	66070611	66070611	Human	1	name
243059266	CV2408490	single nucleotide variant	NM_018026.4(PACS1):c.286C>T (p.Pro96Ser)	Schuurs-Hoeijmakers syndrome [RCV003134729]	uncertain significance	11	66070772	66070772	Human	1	name
243050855	CV2419708	single nucleotide variant	NM_018026.4(PACS1):c.248G>T (p.Gly83Val)	not provided [RCV003156640]	uncertain significance	11	66070734	66070734	Human		name
329402471	CV2454292	single nucleotide variant	NM_018026.4(PACS1):c.228G>A (p.Met76Ile)	Inborn genetic diseases [RCV003199357]	uncertain significance	11	66070714	66070714	Human	1	name
401876680	CV2783028	single nucleotide variant	NM_018026.4(PACS1):c.262G>A (p.Gly88Ser)	Inborn genetic diseases [RCV003383513]	uncertain significance	11	66070748	66070748	Human	1	name
405088013	CV2865099	single nucleotide variant	NM_018026.4(PACS1):c.2667C>T (p.Ile889=)	Schuurs-Hoeijmakers syndrome [RCV003536141]	likely benign	11	66242922	66242922	Human	1	name
405141950	CV2868319	single nucleotide variant	NM_018026.4(PACS1):c.1744C>T (p.Leu582=)	Schuurs-Hoeijmakers syndrome [RCV003537582]	likely benign	11	66232972	66232972	Human	1	name
405150043	CV2881708	single nucleotide variant	NM_018026.4(PACS1):c.2088G>A (p.Ser696=)	Schuurs-Hoeijmakers syndrome [RCV003538844]	likely benign	11	66234226	66234226	Human	1	name
405151121	CV2882176	single nucleotide variant	NM_018026.4(PACS1):c.2157G>A (p.Thr719=)	Schuurs-Hoeijmakers syndrome [RCV003538942]	likely benign	11	66235353	66235353	Human	1	name
405153827	CV2886839	single nucleotide variant	NM_018026.4(PACS1):c.2580C>T (p.Arg860=)	Schuurs-Hoeijmakers syndrome [RCV003539178]	likely benign	11	66241577	66241577	Human	1	name
405154051	CV2889775	single nucleotide variant	NM_018026.4(PACS1):c.2298T>C (p.Asp766=)	Schuurs-Hoeijmakers syndrome [RCV003539156]	likely benign	11	66239146	66239146	Human	1	name
405081009	CV2890612	single nucleotide variant	NM_018026.4(PACS1):c.2040C>T (p.Tyr680=)	Schuurs-Hoeijmakers syndrome [RCV003535108]	likely benign	11	66234178	66234178	Human	1	name
405093415	CV2919157	single nucleotide variant	NM_018026.4(PACS1):c.1773G>A (p.Val591=)	Schuurs-Hoeijmakers syndrome [RCV003536675]	likely benign	11	66233001	66233001	Human	1	name
405148451	CV2929839	single nucleotide variant	NM_018026.4(PACS1):c.2217A>G (p.Glu739=)	Schuurs-Hoeijmakers syndrome [RCV003538255]	likely benign	11	66235907	66235907	Human	1	name
405148788	CV2933131	single nucleotide variant	NM_018026.4(PACS1):c.1809G>A (p.Leu603=)	Schuurs-Hoeijmakers syndrome [RCV003538287]	likely benign	11	66233037	66233037	Human	1	name
405149875	CV2933789	single nucleotide variant	NM_018026.4(PACS1):c.2112G>T (p.Leu704=)	PACS1-related disorder [RCV004753700]\|Schuurs-Hoeijmakers syndrome [RCV003538327]	likely benign	11	66235308	66235308	Human	1	name , trait , alternate_id
405012771	CV2941026	single nucleotide variant	NM_018026.4(PACS1):c.2841C>A (p.Thr947=)	Schuurs-Hoeijmakers syndrome [RCV003649507]	likely benign	11	66243229	66243229	Human	1	name
405013553	CV2941345	single nucleotide variant	NM_018026.4(PACS1):c.1417C>T (p.Leu473=)	Schuurs-Hoeijmakers syndrome [RCV003649511]	likely benign	11	66230590	66230590	Human	1	name
405013012	CV2941986	single nucleotide variant	NM_018026.4(PACS1):c.2241C>T (p.Pro747=)	Schuurs-Hoeijmakers syndrome [RCV003649533]	likely benign	11	66235931	66235931	Human	1	name
405013079	CV2945782	single nucleotide variant	NM_018026.4(PACS1):c.1044C>G (p.Gly348=)	Schuurs-Hoeijmakers syndrome [RCV003649540]	likely benign	11	66220636	66220636	Human	1	name
405012394	CV2946492	single nucleotide variant	NM_018026.4(PACS1):c.2493C>T (p.Pro831=)	Schuurs-Hoeijmakers syndrome [RCV003649469]\|not provided [RCV004546803]	likely benign	11	66241490	66241490	Human	1	name
405015238	CV2965564	single nucleotide variant	NM_018026.4(PACS1):c.1401A>C (p.Gly467=)	Schuurs-Hoeijmakers syndrome [RCV003649758]	likely benign	11	66230574	66230574	Human	1	name
405015542	CV2973268	single nucleotide variant	NM_018026.4(PACS1):c.2751C>A (p.Ala917=)	Schuurs-Hoeijmakers syndrome [RCV003649817]	likely benign	11	66243006	66243006	Human	1	name
405014627	CV2974618	single nucleotide variant	NM_018026.4(PACS1):c.2001C>T (p.His667=)	Schuurs-Hoeijmakers syndrome [RCV003649683]	likely benign	11	66234139	66234139	Human	1	name
405022853	CV2979501	single nucleotide variant	NM_018026.4(PACS1):c.2082T>C (p.Ser694=)	Schuurs-Hoeijmakers syndrome [RCV003651068]	likely benign	11	66234220	66234220	Human	1	name
405021384	CV2984856	single nucleotide variant	NM_018026.4(PACS1):c.2829C>T (p.Ala943=)	Schuurs-Hoeijmakers syndrome [RCV003650912]	likely benign	11	66243217	66243217	Human	1	name
405023097	CV2989346	single nucleotide variant	NM_018026.4(PACS1):c.1887G>C (p.Val629=)	Schuurs-Hoeijmakers syndrome [RCV003651042]	likely benign	11	66233833	66233833	Human	1	name
405023190	CV2989947	single nucleotide variant	NM_018026.4(PACS1):c.1203T>C (p.Pro401=)	Schuurs-Hoeijmakers syndrome [RCV003651104]	likely benign	11	66221157	66221157	Human	1	name
405044347	CV3020776	single nucleotide variant	NM_018026.4(PACS1):c.1974C>T (p.Arg658=)	Schuurs-Hoeijmakers syndrome [RCV003653980]	likely benign	11	66233920	66233920	Human	1	name
405019689	CV3045600	single nucleotide variant	NM_018026.4(PACS1):c.2259G>A (p.Lys753=)	Schuurs-Hoeijmakers syndrome [RCV003650208]	likely benign	11	66238812	66238812	Human	1	name
405020308	CV3052743	single nucleotide variant	NM_018026.4(PACS1):c.2400A>G (p.Pro800=)	Schuurs-Hoeijmakers syndrome [RCV003650337]	likely benign	11	66239248	66239248	Human	1	name
405016638	CV3053431	single nucleotide variant	NM_018026.4(PACS1):c.1644G>A (p.Val548=)	Schuurs-Hoeijmakers syndrome [RCV003649947]	likely benign	11	66232189	66232189	Human	1	name
405019165	CV3055729	single nucleotide variant	NM_018026.4(PACS1):c.2145C>T (p.Asn715=)	Schuurs-Hoeijmakers syndrome [RCV003650212]\|not specified [RCV004587550]	likely benign	11	66235341	66235341	Human	1	name
405028121	CV3061717	single nucleotide variant	NM_018026.4(PACS1):c.2112G>A (p.Leu704=)	Schuurs-Hoeijmakers syndrome [RCV003651523]	likely benign	11	66235308	66235308	Human	1	name
405039001	CV3074816	single nucleotide variant	NM_018026.4(PACS1):c.2631G>C (p.Val877=)	Schuurs-Hoeijmakers syndrome [RCV003653052]	likely benign	11	66241628	66241628	Human	1	name
405029868	CV3078108	single nucleotide variant	NM_018026.4(PACS1):c.2364G>C (p.Leu788=)	Schuurs-Hoeijmakers syndrome [RCV003651723]	likely benign	11	66239212	66239212	Human	1	name
405270149	CV3187629	single nucleotide variant	NM_018026.4(PACS1):c.2220C>T (p.Asp740=)	not provided [RCV003887713]	likely benign	11	66235910	66235910	Human		name
405740968	CV3367484	single nucleotide variant	NM_018026.4(PACS1):c.170C>T (p.Ser57Phe)	Inborn genetic diseases [RCV004497733]\|not specified [RCV004701910]	uncertain significance	11	66070656	66070656	Human	1	name
407573435	CV3499215	single nucleotide variant	NM_018026.4(PACS1):c.2811G>A (p.Lys937=)	Schuurs-Hoeijmakers syndrome [RCV005103583]\|not specified [RCV004701108]	likely benign	11	66243199	66243199	Human	1	name
408369529	CV3502808	single nucleotide variant	NM_018026.4(PACS1):c.158C>T (p.Ala53Val)	Inborn genetic diseases [RCV004953708]\|not provided [RCV004723929]	likely benign\|uncertain significance	11	66070644	66070644	Human	1	name
408386535	CV3528976	single nucleotide variant	NM_018026.4(PACS1):c.1038G>A (p.Glu346=)	not provided [RCV004772809]	uncertain significance	11	66219805	66219805	Human		name
597876911	CV3766709	single nucleotide variant	NM_018026.4(PACS1):c.2463C>T (p.Gly821=)	Schuurs-Hoeijmakers syndrome [RCV005108649]	likely benign	11	66241460	66241460	Human	1	name
597921899	CV3774992	single nucleotide variant	NM_018026.4(PACS1):c.1476C>A (p.Gly492=)	Schuurs-Hoeijmakers syndrome [RCV005115338]	likely benign	11	66230649	66230649	Human	1	name
597921697	CV3777400	single nucleotide variant	NM_018026.4(PACS1):c.1437C>G (p.Val479=)	Schuurs-Hoeijmakers syndrome [RCV005130329]	likely benign	11	66230610	66230610	Human	1	name
597848828	CV3793012	single nucleotide variant	NM_018026.4(PACS1):c.1386C>T (p.Asp462=)	Schuurs-Hoeijmakers syndrome [RCV005145148]	likely benign	11	66230559	66230559	Human	1	name
597934244	CV3793552	single nucleotide variant	NM_018026.4(PACS1):c.1242G>A (p.Glu414=)	Schuurs-Hoeijmakers syndrome [RCV005132208]	likely benign	11	66221196	66221196	Human	1	name
597888203	CV3804443	single nucleotide variant	NM_018026.4(PACS1):c.1533G>T (p.Thr511=)	Schuurs-Hoeijmakers syndrome [RCV005150894]	likely benign	11	66230847	66230847	Human	1	name
597949781	CV3814765	single nucleotide variant	NM_018026.4(PACS1):c.2889C>A (p.Thr963=)	Schuurs-Hoeijmakers syndrome [RCV005160906]	likely benign	11	66243277	66243277	Human	1	name
597851390	CV3824475	single nucleotide variant	NM_018026.4(PACS1):c.1755C>T (p.Asp585=)	Schuurs-Hoeijmakers syndrome [RCV005173514]	likely benign	11	66232983	66232983	Human	1	name
597927539	CV3855521	single nucleotide variant	NM_018026.4(PACS1):c.1308T>C (p.Ala436=)	Schuurs-Hoeijmakers syndrome [RCV005206120]	likely benign	11	66227518	66227518	Human	1	name
597894988	CV3857270	single nucleotide variant	NM_018026.4(PACS1):c.1419G>A (p.Leu473=)	Schuurs-Hoeijmakers syndrome [RCV005201134]	likely benign	11	66230592	66230592	Human	1	name
597845783	CV3880505	single nucleotide variant	NM_018026.4(PACS1):c.266G>T (p.Gly89Val)	not provided [RCV005227393]	uncertain significance	11	66070752	66070752	Human		name
598226684	CV3894409	single nucleotide variant	NM_018026.4(PACS1):c.1816C>T (p.Leu606=)	not provided [RCV005257652]	likely benign	11	66233044	66233044	Human		name
13214701	CV429272	single nucleotide variant	NM_018026.4(PACS1):c.1737G>A (p.Val579=)	Schuurs-Hoeijmakers syndrome [RCV002527274]\|not specified [RCV000501492]	likely benign	11	66232965	66232965	Human	1	name
13216558	CV429274	single nucleotide variant	NM_018026.4(PACS1):c.2358G>A (p.Ser786=)	Inborn genetic diseases [RCV002446979]\|PACS1-related disorder [RCV003925480]\|Schuurs-Hoeijmakers syndrome [RCV002056862]\|not provided [RCV000960420]\|not specified [RCV000503911]	likely benign	11	66239206	66239206	Human	2	name , trait , alternate_id
13213195	CV429275	single nucleotide variant	NM_018026.4(PACS1):c.2454C>T (p.Asp818=)	Inborn genetic diseases [RCV002455970]\|Schuurs-Hoeijmakers syndrome [RCV000538397]\|not provided [RCV001672811]\|not specified [RCV000499727]	benign\|likely benign	11	66241451	66241451	Human	2	name
13498584	CV462239	single nucleotide variant	NM_018026.4(PACS1):c.1953C>T (p.Ser651=)	Schuurs-Hoeijmakers syndrome [RCV000539316]\|not provided [RCV003884632]	likely benign	11	66233899	66233899	Human	1	name
13829356	CV579721	single nucleotide variant	NM_018026.4(PACS1):c.2376C>T (p.Ala792=)	Inborn genetic diseases [RCV002313648]\|PACS1-related disorder [RCV003980347]\|Schuurs-Hoeijmakers syndrome [RCV000878514]\|not provided [RCV001672939]\|not specified [RCV001816768]	benign\|likely benign	11	66239224	66239224	Human	2	name , trait , alternate_id
13829940	CV579764	single nucleotide variant	NM_018026.4(PACS1):c.1428G>A (p.Pro476=)	Inborn genetic diseases [RCV002318732]\|PACS1-related disorder [RCV004753007]\|Schuurs-Hoeijmakers syndrome [RCV002534934]\|not provided [RCV001585676]	likely benign	11	66230601	66230601	Human	2	name , trait , alternate_id
13828490	CV579774	single nucleotide variant	NM_018026.4(PACS1):c.1617C>T (p.His539=)	Inborn genetic diseases [RCV002312469]\|Schuurs-Hoeijmakers syndrome [RCV002060900]	benign\|likely benign	11	66230931	66230931	Human	2	name
13828557	CV579945	single nucleotide variant	NM_018026.4(PACS1):c.215C>T (p.Thr72Ile)	Inborn genetic diseases [RCV002312739]	likely benign	11	66070701	66070701	Human	1	name
13828574	CV579968	single nucleotide variant	NM_018026.4(PACS1):c.2115C>T (p.Asp705=)	Inborn genetic diseases [RCV002312745]\|Schuurs-Hoeijmakers syndrome [RCV000959826]\|not provided [RCV001539095]	likely benign	11	66235311	66235311	Human	2	name
13830113	CV579972	single nucleotide variant	NM_018026.4(PACS1):c.2581C>T (p.Leu861=)	Inborn genetic diseases [RCV002316729]\|Schuurs-Hoeijmakers syndrome [RCV002534949]	benign\|likely benign	11	66241578	66241578	Human	2	name
13833719	CV584957	single nucleotide variant	NM_018026.4(PACS1):c.2541C>T (p.Asn847=)	Schuurs-Hoeijmakers syndrome [RCV005092134]\|not provided [RCV000729062]	likely benign\|uncertain significance	11	66241538	66241538	Human	1	name
15132318	CV713053	single nucleotide variant	NM_018026.4(PACS1):c.1623G>A (p.Thr541=)	Schuurs-Hoeijmakers syndrome [RCV002066391]\|not provided [RCV003311925]	likely benign	11	66230937	66230937	Human	1	name
15108121	CV713055	single nucleotide variant	NM_018026.4(PACS1):c.2508G>A (p.Arg836=)	Inborn genetic diseases [RCV002427396]\|Schuurs-Hoeijmakers syndrome [RCV002548277]	likely benign	11	66241505	66241505	Human	2	name
15177286	CV724626	single nucleotide variant	NM_018026.4(PACS1):c.2178C>T (p.Ala726=)	Inborn genetic diseases [RCV002427240]\|Schuurs-Hoeijmakers syndrome [RCV002065496]\|not provided [RCV000884785]	benign\|likely benign	11	66235374	66235374	Human	2	name
15189071	CV738162	single nucleotide variant	NM_018026.4(PACS1):c.1413G>A (p.Thr471=)	Schuurs-Hoeijmakers syndrome [RCV000909546]\|not provided [RCV003156300]	likely benign	11	66230586	66230586	Human	1	name
15121868	CV738164	single nucleotide variant	NM_018026.4(PACS1):c.2370A>T (p.Arg790=)	Inborn genetic diseases [RCV002444988]\|Schuurs-Hoeijmakers syndrome [RCV002539446]	benign\|likely benign	11	66239218	66239218	Human	2	name
15187622	CV768632	single nucleotide variant	NM_018026.4(PACS1):c.2412C>T (p.Ser804=)	Schuurs-Hoeijmakers syndrome [RCV000931715]\|not provided [RCV001731980]\|not specified [RCV001818902]	likely benign	11	66239260	66239260	Human	1	name
150414346	CV1177474	single nucleotide variant	NM_018026.4(PACS1):c.698G>A (p.Gly233Asp)	Inborn genetic diseases [RCV004039286]\|PACS1-related disorder [RCV003940992]\|Schuurs-Hoeijmakers syndrome [RCV002568971]\|not provided [RCV001548086]	benign\|likely benign	11	66216156	66216156	Human	2	name , trait , alternate_id
150405260	CV1194522	single nucleotide variant	NM_018026.4(PACS1):c.401T>C (p.Met134Thr)	PACS1-related disorder [RCV005250193]\|Schuurs-Hoeijmakers syndrome [RCV002569053]\|not provided [RCV001571548]	likely benign\|uncertain significance	11	66193530	66193530	Human	1	name , trait , alternate_id
150419328	CV1194525	single nucleotide variant	NM_018026.4(PACS1):c.739G>A (p.Glu247Lys)	Inborn genetic diseases [RCV004656629]\|Schuurs-Hoeijmakers syndrome [RCV001866015]\|not provided [RCV001569634]	likely benign\|uncertain significance	11	66216197	66216197	Human	2	name
150437000	CV1249798	duplication	NM_018026.4(PACS1):c.2250+177_2250+187dup	not provided [RCV001665712]	benign	11	66236112	66236113	Human		name
150555158	CV1295977	duplication	NM_018026.4(PACS1):c.2325dup (p.Thr776fs)	not provided [RCV001772486]	uncertain significance	11	66239171	66239172	Human		name
150556363	CV1303036	single nucleotide variant	NM_018026.4(PACS1):c.849G>T (p.Glu283Asp)	not provided [RCV001774229]	uncertain significance	11	66216563	66216563	Human		name
150555818	CV1305304	single nucleotide variant	NM_018026.4(PACS1):c.577A>G (p.Met193Val)	not provided [RCV001773237]	uncertain significance	11	66211176	66211176	Human		name
150555852	CV1305344	single nucleotide variant	NM_018026.4(PACS1):c.472G>A (p.Glu158Lys)	Schuurs-Hoeijmakers syndrome [RCV002304236]\|not provided [RCV001773277]	uncertain significance	11	66210389	66210389	Human	1	name
151354646	CV1327713	single nucleotide variant	NM_018026.4(PACS1):c.460C>A (p.Leu154Ile)	Schuurs-Hoeijmakers syndrome [RCV003653498]\|not provided [RCV003318693]\|not specified [RCV001819188]	likely benign\|uncertain significance	11	66210377	66210377	Human	1	name
151782313	CV1347232	single nucleotide variant	NM_018026.4(PACS1):c.691G>C (p.Val231Leu)	Inborn genetic diseases [RCV004956185]\|Schuurs-Hoeijmakers syndrome [RCV002046284]	benign\|likely benign\|uncertain significance	11	66216149	66216149	Human	2	name
151733061	CV1351488	single nucleotide variant	NM_018026.4(PACS1):c.676A>C (p.Asn226His)	Schuurs-Hoeijmakers syndrome [RCV002004983]	benign\|uncertain significance	11	66216134	66216134	Human	1	name
151750847	CV1377997	single nucleotide variant	NM_018026.4(PACS1):c.712G>A (p.Val238Met)	Inborn genetic diseases [RCV005382358]\|Schuurs-Hoeijmakers syndrome [RCV002043270]	likely benign\|uncertain significance	11	66216170	66216170	Human	2	name
151819895	CV1450117	single nucleotide variant	NM_018026.4(PACS1):c.424G>A (p.Val142Ile)	Schuurs-Hoeijmakers syndrome [RCV001879114]	benign\|uncertain significance	11	66193553	66193553	Human	1	name
151771338	CV1481862	deletion	NM_018026.4(PACS1):c.1356del (p.Thr453fs)	Schuurs-Hoeijmakers syndrome [RCV002008869]	uncertain significance	11	66227566	66227566	Human		name
153348830	CV1692875	single nucleotide variant	NM_018026.4(PACS1):c.492T>A (p.Ser164Arg)	not provided [RCV002274731]	uncertain significance	11	66210409	66210409	Human		name
155265180	CV1704643	single nucleotide variant	NM_018026.4(PACS1):c.620G>A (p.Gly207Asp)	not provided [RCV002284859]	uncertain significance	11	66211219	66211219	Human		name
155267769	CV1705141	single nucleotide variant	NM_018026.4(PACS1):c.944G>A (p.Arg315Gln)	Schuurs-Hoeijmakers syndrome [RCV003534853]\|not provided [RCV002285746]	uncertain significance	11	66216741	66216741	Human	1	name
155645504	CV1708955	single nucleotide variant	NM_018026.4(PACS1):c.872G>T (p.Gly291Val)	not provided [RCV002291831]	uncertain significance	11	66216586	66216586	Human		name
155689115	CV1777849	single nucleotide variant	NM_018026.4(PACS1):c.910G>A (p.Glu304Lys)	Schuurs-Hoeijmakers syndrome [RCV002299197]	uncertain significance	11	66216707	66216707	Human	1	name
155678243	CV1779178	single nucleotide variant	NM_018026.4(PACS1):c.725C>G (p.Ser242Cys)	Schuurs-Hoeijmakers syndrome [RCV002297954]	uncertain significance	11	66216183	66216183	Human	1	name
155673812	CV1802509	single nucleotide variant	NM_018026.4(PACS1):c.511C>T (p.Leu171Phe)	Inborn genetic diseases [RCV002351537]\|Schuurs-Hoeijmakers syndrome [RCV003102690]	uncertain significance	11	66210428	66210428	Human	2	name
155667510	CV1823876	single nucleotide variant	NM_018026.4(PACS1):c.808C>T (p.Arg270Cys)	Inborn genetic diseases [RCV002419419]\|Schuurs-Hoeijmakers syndrome [RCV003653619]	uncertain significance	11	66216522	66216522	Human	2	name
155795067	CV1858909	single nucleotide variant	NM_018026.4(PACS1):c.755C>T (p.Ser252Phe)	Intellectual disability [RCV002463874]	likely pathogenic	11	66216213	66216213	Human	2	name
155798256	CV1859664	single nucleotide variant	NM_018026.4(PACS1):c.298C>T (p.Gln100Ter)	Schuurs-Hoeijmakers syndrome [RCV002465456]	likely pathogenic	11	66070784	66070784	Human	1	name
156052643	CV1867760	deletion	NM_018026.4(PACS1):c.1050del (p.Leu351fs)	not provided [RCV002510233]	uncertain significance	11	66220640	66220640	Human		name
156002490	CV1869555	single nucleotide variant	NM_018026.4(PACS1):c.814C>G (p.Pro272Ala)	Schuurs-Hoeijmakers syndrome [RCV003076659]	uncertain significance	11	66216528	66216528	Human	1	name
156408841	CV1870348	single nucleotide variant	NM_018026.4(PACS1):c.463C>T (p.Arg155Cys)	Schuurs-Hoeijmakers syndrome [RCV003071427]	uncertain significance	11	66210380	66210380	Human	1	name
156326053	CV1880795	single nucleotide variant	NM_018026.4(PACS1):c.731C>G (p.Pro244Arg)	Schuurs-Hoeijmakers syndrome [RCV003063410]	benign\|uncertain significance	11	66216189	66216189	Human	1	name
156251724	CV1883825	single nucleotide variant	NM_018026.4(PACS1):c.478G>A (p.Val160Ile)	Schuurs-Hoeijmakers syndrome [RCV003086126]	uncertain significance	11	66210395	66210395	Human	1	name
156371360	CV1920296	single nucleotide variant	NM_018026.4(PACS1):c.794C>G (p.Ser265Cys)	Schuurs-Hoeijmakers syndrome [RCV002603200]	benign	11	66216252	66216252	Human	1	name
155947481	CV1935724	single nucleotide variant	NM_018026.4(PACS1):c.514C>T (p.Gln172Ter)	not provided [RCV002511474]	uncertain significance	11	66210431	66210431	Human		name
156406382	CV1963600	single nucleotide variant	NM_018026.4(PACS1):c.943C>T (p.Arg315Trp)	Inborn genetic diseases [RCV002585891]\|Schuurs-Hoeijmakers syndrome [RCV002585890]	uncertain significance	11	66216740	66216740	Human	2	name
156322172	CV2053802	single nucleotide variant	NM_018026.4(PACS1):c.733G>A (p.Val245Met)	Schuurs-Hoeijmakers syndrome [RCV002810152]\|not specified [RCV005406529]	uncertain significance	11	66216191	66216191	Human	1	name
155946186	CV2111711	single nucleotide variant	NM_018026.4(PACS1):c.778C>A (p.His260Asn)	Schuurs-Hoeijmakers syndrome [RCV002904778]	uncertain significance	11	66216236	66216236	Human	1	name
156391591	CV2118747	single nucleotide variant	NM_018026.4(PACS1):c.926G>A (p.Arg309Gln)	Schuurs-Hoeijmakers syndrome [RCV002943961]	benign\|likely benign\|uncertain significance	11	66216723	66216723	Human	1	name
156316780	CV2137765	single nucleotide variant	NM_018026.4(PACS1):c.400A>G (p.Met134Val)	Schuurs-Hoeijmakers syndrome [RCV002962950]	uncertain significance	11	66193529	66193529	Human	1	name
156121495	CV2147198	single nucleotide variant	NM_018026.4(PACS1):c.670C>T (p.His224Tyr)	Schuurs-Hoeijmakers syndrome [RCV003021814]	uncertain significance	11	66216128	66216128	Human	1	name
156236432	CV2158144	single nucleotide variant	NM_018026.4(PACS1):c.970A>G (p.Ile324Val)	Schuurs-Hoeijmakers syndrome [RCV003025843]	uncertain significance	11	66216767	66216767	Human	1	name
156318081	CV2169475	single nucleotide variant	NM_018026.4(PACS1):c.491G>T (p.Ser164Ile)	Schuurs-Hoeijmakers syndrome [RCV003028981]	uncertain significance	11	66210408	66210408	Human	1	name
155948960	CV2273587	single nucleotide variant	NM_018026.4(PACS1):c.863A>T (p.Glu288Val)	Inborn genetic diseases [RCV002840152]	uncertain significance	11	66216577	66216577	Human	1	name
243059267	CV2408492	single nucleotide variant	NM_018026.4(PACS1):c.685G>A (p.Ala229Thr)	Schuurs-Hoeijmakers syndrome [RCV003134730]	uncertain significance	11	66216143	66216143	Human	1	name
329847509	CV2524327	single nucleotide variant	NM_018026.4(PACS1):c.721G>A (p.Val241Ile)	not provided [RCV003227219]	uncertain significance	11	66216179	66216179	Human		name
401797539	CV2740979	single nucleotide variant	NM_018026.4(PACS1):c.440T>G (p.Leu147Arg)	not provided [RCV003322143]	uncertain significance	11	66193569	66193569	Human		name
401867570	CV2780592	single nucleotide variant	NM_018026.4(PACS1):c.490A>G (p.Ser164Gly)	Inborn genetic diseases [RCV003360268]	likely benign	11	66210407	66210407	Human	1	name
401937595	CV2798791	single nucleotide variant	NM_018026.4(PACS1):c.567G>C (p.Lys189Asn)	PACS1-related disorder [RCV003416659]	uncertain significance	11	66211166	66211166	Human		name , trait , alternate_id
401921708	CV2802647	single nucleotide variant	NM_018026.4(PACS1):c.388A>G (p.Met130Val)	PACS1-related disorder [RCV003403034]	uncertain significance	11	66193517	66193517	Human		name , trait , alternate_id
401963893	CV2843380	single nucleotide variant	NM_018026.4(PACS1):c.875G>T (p.Ser292Ile)	not specified [RCV003479722]	uncertain significance	11	66216589	66216589	Human		name
405087669	CV2855228	single nucleotide variant	NM_018026.4(PACS1):c.403G>T (p.Asp135Tyr)	Schuurs-Hoeijmakers syndrome [RCV003536183]	uncertain significance	11	66193532	66193532	Human	1	name
405087372	CV2858375	single nucleotide variant	NM_018026.4(PACS1):c.368T>C (p.Leu123Ser)	Schuurs-Hoeijmakers syndrome [RCV003536160]	uncertain significance	11	66193497	66193497	Human	1	name
405087386	CV2858381	single nucleotide variant	NM_018026.4(PACS1):c.812C>T (p.Ser271Phe)	Schuurs-Hoeijmakers syndrome [RCV003536161]	uncertain significance	11	66216526	66216526	Human	1	name
405154025	CV2883376	single nucleotide variant	NM_018026.4(PACS1):c.752A>G (p.Tyr251Cys)	Schuurs-Hoeijmakers syndrome [RCV003539194]	uncertain significance	11	66216210	66216210	Human	1	name
405093863	CV2919137	single nucleotide variant	NM_018026.4(PACS1):c.911A>T (p.Glu304Val)	Schuurs-Hoeijmakers syndrome [RCV003536674]	uncertain significance	11	66216708	66216708	Human	1	name
405148430	CV2929801	single nucleotide variant	NM_018026.4(PACS1):c.461T>G (p.Leu154Arg)	Schuurs-Hoeijmakers syndrome [RCV003538253]	likely benign	11	66210378	66210378	Human	1	name
405147239	CV2931990	single nucleotide variant	NM_018026.4(PACS1):c.733G>T (p.Val245Leu)	Schuurs-Hoeijmakers syndrome [RCV003538136]	uncertain significance	11	66216191	66216191	Human	1	name
405012667	CV2944158	single nucleotide variant	NM_018026.4(PACS1):c.752A>C (p.Tyr251Ser)	Schuurs-Hoeijmakers syndrome [RCV003649497]	uncertain significance	11	66216210	66216210	Human	1	name
405014247	CV2970339	single nucleotide variant	NM_018026.4(PACS1):c.919G>A (p.Asp307Asn)	Schuurs-Hoeijmakers syndrome [RCV003649645]	uncertain significance	11	66216716	66216716	Human	1	name
405014634	CV2974761	single nucleotide variant	NM_018026.4(PACS1):c.809G>A (p.Arg270His)	Schuurs-Hoeijmakers syndrome [RCV003649684]	uncertain significance	11	66216523	66216523	Human	1	name
405015744	CV2976800	single nucleotide variant	NM_018026.4(PACS1):c.943C>G (p.Arg315Gly)	Schuurs-Hoeijmakers syndrome [RCV003649841]	uncertain significance	11	66216740	66216740	Human	1	name
405031707	CV2995962	single nucleotide variant	NM_018026.4(PACS1):c.534G>C (p.Gln178His)	Schuurs-Hoeijmakers syndrome [RCV003652294]	uncertain significance	11	66210451	66210451	Human	1	name
405032555	CV3000821	single nucleotide variant	NM_018026.4(PACS1):c.748A>G (p.Ile250Val)	Schuurs-Hoeijmakers syndrome [RCV003652419]	uncertain significance	11	66216206	66216206	Human	1	name
405034116	CV3005217	single nucleotide variant	NM_018026.4(PACS1):c.915C>A (p.Asp305Glu)	Schuurs-Hoeijmakers syndrome [RCV003652567]	uncertain significance	11	66216712	66216712	Human	1	name
405033947	CV3015268	single nucleotide variant	NM_018026.4(PACS1):c.554G>A (p.Arg185Gln)	Schuurs-Hoeijmakers syndrome [RCV003652550]	uncertain significance	11	66211153	66211153	Human	1	name
405035234	CV3016380	single nucleotide variant	NM_018026.4(PACS1):c.546C>A (p.Phe182Leu)	Schuurs-Hoeijmakers syndrome [RCV003652678]	likely benign	11	66211145	66211145	Human	1	name
405018397	CV3048292	single nucleotide variant	NM_018026.4(PACS1):c.710A>G (p.Asn237Ser)	Inborn genetic diseases [RCV004953449]\|Schuurs-Hoeijmakers syndrome [RCV003650134]	likely benign\|uncertain significance	11	66216168	66216168	Human	2	name
405203808	CV3144022	single nucleotide variant	NM_018026.4(PACS1):c.956C>T (p.Thr319Ile)	Schuurs-Hoeijmakers syndrome [RCV003844812]	uncertain significance	11	66216753	66216753	Human	1	name
405286391	CV3205325	single nucleotide variant	NM_018026.4(PACS1):c.491G>A (p.Ser164Asn)	PACS1-related disorder [RCV003959522]	uncertain significance	11	66210408	66210408	Human		name , trait , alternate_id
405272144	CV3206443	single nucleotide variant	NM_018026.4(PACS1):c.713T>C (p.Val238Ala)	PACS1-related disorder [RCV003972048]	uncertain significance	11	66216171	66216171	Human		name , trait , alternate_id
405740998	CV3367488	single nucleotide variant	NM_018026.4(PACS1):c.314C>G (p.Ala105Gly)	Inborn genetic diseases [RCV004497737]	uncertain significance	11	66070800	66070800	Human	1	name
405741004	CV3367489	single nucleotide variant	NM_018026.4(PACS1):c.416A>T (p.Asn139Ile)	Inborn genetic diseases [RCV004497738]	uncertain significance	11	66193545	66193545	Human	1	name
405741016	CV3367491	single nucleotide variant	NM_018026.4(PACS1):c.685G>T (p.Ala229Ser)	Inborn genetic diseases [RCV004497740]	likely benign	11	66216143	66216143	Human	1	name
408393710	CV3519885	single nucleotide variant	NM_018026.4(PACS1):c.541C>A (p.His181Asn)	Schuurs-Hoeijmakers syndrome [RCV005104919]\|not provided [RCV004764181]	uncertain significance	11	66211140	66211140	Human	1	name
408389988	CV3524862	single nucleotide variant	NM_018026.4(PACS1):c.397G>A (p.Glu133Lys)	not provided [RCV004769757]	uncertain significance	11	66193526	66193526	Human		name
408386204	CV3528819	single nucleotide variant	NM_018026.4(PACS1):c.959C>T (p.Ser320Leu)	not provided [RCV004772652]	uncertain significance	11	66216756	66216756	Human		name
596924207	CV3532127	single nucleotide variant	NM_018026.4(PACS1):c.964T>A (p.Ser322Thr)	not provided [RCV004777238]	uncertain significance	11	66216761	66216761	Human		name
596929417	CV3540913	single nucleotide variant	NM_018026.4(PACS1):c.539C>G (p.Pro180Arg)	not provided [RCV004795242]	uncertain significance	11	66211138	66211138	Human		name
597894150	CV3773263	single nucleotide variant	NM_018026.4(PACS1):c.385G>C (p.Val129Leu)	Schuurs-Hoeijmakers syndrome [RCV005111170]	benign	11	66193514	66193514	Human	1	name
597945802	CV3786994	single nucleotide variant	NM_018026.4(PACS1):c.439C>A (p.Leu147Met)	Schuurs-Hoeijmakers syndrome [RCV005119814]	uncertain significance	11	66193568	66193568	Human	1	name
597972217	CV3790172	single nucleotide variant	NM_018026.4(PACS1):c.445G>A (p.Gly149Ser)	Schuurs-Hoeijmakers syndrome [RCV005142595]	uncertain significance	11	66210362	66210362	Human	1	name
597952297	CV3795098	single nucleotide variant	NM_018026.4(PACS1):c.798G>C (p.Lys266Asn)	Schuurs-Hoeijmakers syndrome [RCV005136310]	uncertain significance	11	66216256	66216256	Human	1	name
597955957	CV3809593	single nucleotide variant	NM_018026.4(PACS1):c.994C>G (p.Gln332Glu)	Schuurs-Hoeijmakers syndrome [RCV005162318]	uncertain significance	11	66219761	66219761	Human	1	name
597946741	CV3817758	single nucleotide variant	NM_018026.4(PACS1):c.427A>G (p.Ile143Val)	Schuurs-Hoeijmakers syndrome [RCV005160225]	uncertain significance	11	66193556	66193556	Human	1	name
597966509	CV3823723	single nucleotide variant	NM_018026.4(PACS1):c.401T>G (p.Met134Arg)	Schuurs-Hoeijmakers syndrome [RCV005165143]	uncertain significance	11	66193530	66193530	Human	1	name
597908344	CV3829899	single nucleotide variant	NM_018026.4(PACS1):c.638T>C (p.Val213Ala)	Schuurs-Hoeijmakers syndrome [RCV005182468]	likely benign	11	66211237	66211237	Human	1	name
597887772	CV3839107	single nucleotide variant	NM_018026.4(PACS1):c.941C>G (p.Thr314Ser)	Schuurs-Hoeijmakers syndrome [RCV005179192]	uncertain significance	11	66216738	66216738	Human	1	name
597953588	CV3844026	single nucleotide variant	NM_018026.4(PACS1):c.388A>C (p.Met130Leu)	Schuurs-Hoeijmakers syndrome [RCV005190888]	uncertain significance	11	66193517	66193517	Human	1	name
597902774	CV3845863	single nucleotide variant	NM_018026.4(PACS1):c.433G>A (p.Val145Met)	Schuurs-Hoeijmakers syndrome [RCV005181485]	uncertain significance	11	66193562	66193562	Human	1	name
597903423	CV3845945	single nucleotide variant	NM_018026.4(PACS1):c.892G>A (p.Gly298Arg)	Schuurs-Hoeijmakers syndrome [RCV005181567]	uncertain significance	11	66216606	66216606	Human	1	name
598184571	CV3995965	single nucleotide variant	NM_018026.4(PACS1):c.576C>G (p.Ile192Met)	Inborn genetic diseases [RCV005395467]	uncertain significance	11	66211175	66211175	Human	1	name
13213246	CV429268	single nucleotide variant	NM_018026.4(PACS1):c.637G>A (p.Val213Met)	Inborn genetic diseases [RCV002316443]\|PACS1-related disorder [RCV003902785]\|Schuurs-Hoeijmakers syndrome [RCV001857139]\|not provided [RCV001692151]\|not specified [RCV000499697]	benign\|likely benign\|uncertain significance	11	66211236	66211236	Human	2	name , trait , alternate_id
13213890	CV429269	single nucleotide variant	NM_018026.4(PACS1):c.650A>G (p.Asn217Ser)	PACS1-related disorder [RCV003960176]\|Schuurs-Hoeijmakers syndrome [RCV002481623]\|not specified [RCV000500577]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	66211249	66211249	Human	1	name , trait , alternate_id
13215413	CV429270	single nucleotide variant	NM_018026.4(PACS1):c.941C>T (p.Thr314Ile)	not specified [RCV000502358]	likely benign	11	66216738	66216738	Human		name
8570522	CV48180	single nucleotide variant	NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	Global developmental delay [RCV001255394]\|Inborn genetic diseases [RCV000210719]\|Intellectual disability [RCV001310258]\|Neurodevelopmental disorder [RCV001375021]\|PACS1-related disorder [RCV003398585]\|PACS1-related syndrome ... (more) [RCV001095741]\|Schuurs-Hoeijmakers syndrome [RCV000032781]\|See cases [RCV002251940]\|not provided [RCV000429725]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	11	66211206	66211206	Human	7	name , trait , alternate_id
13829057	CV579730	single nucleotide variant	NM_018026.4(PACS1):c.430G>A (p.Ala144Thr)	Inborn genetic diseases [RCV002314474]\|Schuurs-Hoeijmakers syndrome [RCV005092076]	benign\|uncertain significance	11	66193559	66193559	Human	2	name
13830008	CV579737	single nucleotide variant	NM_018026.4(PACS1):c.908A>G (p.Tyr303Cys)	Inborn genetic diseases [RCV002318798]	uncertain significance	11	66216705	66216705	Human	1	name
13828696	CV579745	single nucleotide variant	NM_018026.4(PACS1):c.563A>G (p.Asn188Ser)	Inborn genetic diseases [RCV002312794]\|Schuurs-Hoeijmakers syndrome [RCV002534536]\|not provided [RCV001655573]	benign\|uncertain significance	11	66211162	66211162	Human	2	name
15181605	CV701900	single nucleotide variant	NM_018026.4(PACS1):c.385G>A (p.Val129Ile)	PACS1-related disorder [RCV003970734]\|Schuurs-Hoeijmakers syndrome [RCV000952015]\|not provided [RCV001638020]	benign\|likely benign\|conflicting interpretations of pathogenicity	11	66193514	66193514	Human	1	name , trait , alternate_id
38596654	CV963728	single nucleotide variant	NM_018026.4(PACS1):c.416A>C (p.Asn139Thr)	Intellectual disability [RCV001252094]	likely benign	11	66193545	66193545	Human	2	name
126732968	CV1000745	single nucleotide variant	NM_018026.4(PACS1):c.1495G>A (p.Val499Met)	Schuurs-Hoeijmakers syndrome [RCV002543565]\|not provided [RCV001310967]	likely benign\|uncertain significance	11	66230809	66230809	Human	1	name
127261722	CV1087358	single nucleotide variant	NM_018026.4(PACS1):c.2281C>A (p.Pro761Thr)	Inborn genetic diseases [RCV002554091]\|Schuurs-Hoeijmakers syndrome [RCV001420621]\|not provided [RCV001762678]	likely benign\|uncertain significance	11	66238834	66238834	Human	2	name
150337472	CV1166014	single nucleotide variant	NM_018026.4(PACS1):c.1598G>A (p.Arg533His)	not provided [RCV001532647]	uncertain significance	11	66230912	66230912	Human		name
150411985	CV1177475	single nucleotide variant	NM_018026.4(PACS1):c.1079G>A (p.Arg360Gln)	Schuurs-Hoeijmakers syndrome [RCV003653482]\|not provided [RCV001547371]	likely benign\|uncertain significance	11	66220671	66220671	Human	1	name
150407627	CV1177476	single nucleotide variant	NM_018026.4(PACS1):c.1516C>T (p.Arg506Trp)	Schuurs-Hoeijmakers syndrome [RCV001859365]\|not provided [RCV001545644]	likely benign\|uncertain significance	11	66230830	66230830	Human	1	name
150413464	CV1177477	single nucleotide variant	NM_018026.4(PACS1):c.2593G>C (p.Gly865Arg)	Inborn genetic diseases [RCV002458519]\|Schuurs-Hoeijmakers syndrome [RCV002072015]\|not provided [RCV001547803]	likely benign\|uncertain significance	11	66241590	66241590	Human	2	name
150411753	CV1191246	single nucleotide variant	NM_018026.4(PACS1):c.1412C>T (p.Thr471Met)	Inborn genetic diseases [RCV004952986]\|Schuurs-Hoeijmakers syndrome [RCV002568440]\|not provided [RCV001566702]	likely benign\|uncertain significance	11	66230585	66230585	Human	2	name
150405720	CV1191248	single nucleotide variant	NM_018026.4(PACS1):c.2549A>G (p.Lys850Arg)	Schuurs-Hoeijmakers syndrome [RCV002570750]\|not provided [RCV001564413]	benign\|likely benign\|uncertain significance	11	66241546	66241546	Human	1	name
150404670	CV1194528	single nucleotide variant	NM_018026.4(PACS1):c.2087C>T (p.Ser696Leu)	Inborn genetic diseases [RCV004039371]\|Schuurs-Hoeijmakers syndrome [RCV001866028]\|not provided [RCV001571283]	likely benign\|uncertain significance	11	66234225	66234225	Human	2	name
150478994	CV1207762	single nucleotide variant	NM_018026.4(PACS1):c.1760G>A (p.Arg587Gln)	Inborn genetic diseases [RCV003246993]\|Schuurs-Hoeijmakers syndrome [RCV002579476]\|not provided [RCV001590038]	likely benign\|uncertain significance	11	66232988	66232988	Human	2	name
150483869	CV1210205	single nucleotide variant	NM_018026.4(PACS1):c.2291C>G (p.Ala764Gly)	Schuurs-Hoeijmakers syndrome [RCV002579498]\|not provided [RCV001590904]	likely benign\|uncertain significance	11	66238844	66238844	Human	1	name
150452729	CV1231742	single nucleotide variant	NM_018026.4(PACS1):c.1495G>T (p.Val499Leu)	Schuurs-Hoeijmakers syndrome [RCV002072980]\|not provided [RCV001648049]	benign\|likely benign	11	66230809	66230809	Human	1	name
150528563	CV1288378	single nucleotide variant	NM_018026.4(PACS1):c.2309C>T (p.Ser770Phe)	Inborn genetic diseases [RCV003365439]\|Schuurs-Hoeijmakers syndrome [RCV001859441]\|not provided [RCV001726846]	likely benign\|uncertain significance	11	66239157	66239157	Human	2	name
150546307	CV1291153	single nucleotide variant	NM_018026.4(PACS1):c.2450G>C (p.Gly817Ala)	Inborn genetic diseases [RCV004953008]\|Schuurs-Hoeijmakers syndrome [RCV002539819]\|not provided [RCV001733030]	benign\|likely benign\|uncertain significance	11	66241447	66241447	Human	2	name
150545993	CV1291535	single nucleotide variant	NM_018026.4(PACS1):c.2327C>G (p.Thr776Ser)	Inborn genetic diseases [RCV003247006]\|Schuurs-Hoeijmakers syndrome [RCV002539823]\|not provided [RCV001732797]	likely benign\|uncertain significance	11	66239175	66239175	Human	2	name
150529652	CV1292909	single nucleotide variant	NM_018026.4(PACS1):c.1820T>C (p.Leu607Pro)	not provided [RCV001756302]	uncertain significance	11	66233048	66233048	Human		name
150549724	CV1299620	single nucleotide variant	NM_018026.4(PACS1):c.1162A>G (p.Thr388Ala)	Schuurs-Hoeijmakers syndrome [RCV003772014]\|not provided [RCV001752546]	uncertain significance	11	66220754	66220754	Human	1	name
150534358	CV1300552	single nucleotide variant	NM_018026.4(PACS1):c.2071G>A (p.Asp691Asn)	not provided [RCV001758680]	uncertain significance	11	66234209	66234209	Human		name
150528371	CV1301868	single nucleotide variant	NM_018026.4(PACS1):c.1349A>G (p.Asp450Gly)	Schuurs-Hoeijmakers syndrome [RCV003653488]\|not provided [RCV001755240]	uncertain significance	11	66227559	66227559	Human	1	name
150552179	CV1302259	single nucleotide variant	NM_018026.4(PACS1):c.1199A>G (p.Lys400Arg)	not provided [RCV001767523]	uncertain significance	11	66220791	66220791	Human		name
150553742	CV1304073	single nucleotide variant	NM_018026.4(PACS1):c.1128C>G (p.Tyr376Ter)	not provided [RCV001769458]	uncertain significance	11	66220720	66220720	Human		name
150554611	CV1304327	single nucleotide variant	NM_018026.4(PACS1):c.1588G>A (p.Asp530Asn)	Schuurs-Hoeijmakers syndrome [RCV002540529]\|not provided [RCV001771297]	likely benign\|uncertain significance	11	66230902	66230902	Human	1	name
150535922	CV1312102	single nucleotide variant	NM_018026.4(PACS1):c.2413G>A (p.Ala805Thr)	Schuurs-Hoeijmakers syndrome [RCV002541110]\|not provided [RCV001779914]\|not specified [RCV005419208]	benign\|likely benign\|uncertain significance	11	66239261	66239261	Human	1	name
150548371	CV1316275	single nucleotide variant	NM_018026.4(PACS1):c.1138G>A (p.Asp380Asn)	not provided [RCV001786076]\|not specified [RCV002307761]	uncertain significance	11	66220730	66220730	Human		name
151234446	CV1320271	single nucleotide variant	NM_018026.4(PACS1):c.2131A>G (p.Met711Val)	not provided [RCV001799894]	uncertain significance	11	66235327	66235327	Human		name
151352789	CV1326048	single nucleotide variant	NM_018026.4(PACS1):c.1442C>T (p.Thr481Ile)	Schuurs-Hoeijmakers syndrome [RCV002541510]\|not provided [RCV001815723]	likely benign\|uncertain significance	11	66230615	66230615	Human	1	name
151662629	CV1330565	single nucleotide variant	NM_018026.4(PACS1):c.2146G>A (p.Gly716Arg)	Hypospadias [RCV001824102]\|Schuurs-Hoeijmakers syndrome [RCV005095290]	uncertain significance	11	66235342	66235342	Human	3	name
151662375	CV1333070	single nucleotide variant	NM_018026.4(PACS1):c.1286C>G (p.Thr429Ser)	Schuurs-Hoeijmakers syndrome [RCV001837303]	conflicting interpretations of pathogenicity\|uncertain significance	11	66221240	66221240	Human	1	name
151891529	CV1368050	single nucleotide variant	NM_018026.4(PACS1):c.1066C>T (p.Arg356Cys)	Schuurs-Hoeijmakers syndrome [RCV001888752]	uncertain significance	11	66220658	66220658	Human	1	name
151795326	CV1420675	single nucleotide variant	NM_018026.4(PACS1):c.2296G>A (p.Asp766Asn)	Inborn genetic diseases [RCV002550459]\|Schuurs-Hoeijmakers syndrome [RCV002027597]\|not provided [RCV002225959]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	66239144	66239144	Human	2	name
151771954	CV1451889	single nucleotide variant	NM_018026.4(PACS1):c.1564C>G (p.Leu522Val)	Schuurs-Hoeijmakers syndrome [RCV001988324]	uncertain significance	11	66230878	66230878	Human	1	name
151723117	CV1511811	single nucleotide variant	NM_018026.4(PACS1):c.2299G>A (p.Gly767Arg)	Schuurs-Hoeijmakers syndrome [RCV002003938]	uncertain significance	11	66239147	66239147	Human	1	name
152127423	CV1534013	single nucleotide variant	NM_018026.4(PACS1):c.1286C>A (p.Thr429Asn)	Schuurs-Hoeijmakers syndrome [RCV002136495]	benign	11	66221240	66221240	Human	1	name
152118818	CV1575909	single nucleotide variant	NM_018026.4(PACS1):c.2378C>T (p.Thr793Met)	Schuurs-Hoeijmakers syndrome [RCV002197766]	benign	11	66239226	66239226	Human	1	name
152155088	CV1668040	single nucleotide variant	NM_018026.4(PACS1):c.2381C>G (p.Ala794Gly)	not provided [RCV002221934]	uncertain significance	11	66239229	66239229	Human		name
152983182	CV1678014	single nucleotide variant	NM_018026.4(PACS1):c.1574G>A (p.Arg525Lys)	Schuurs-Hoeijmakers syndrome [RCV002250169]	pathogenic	11	66230888	66230888	Human	1	name
153302100	CV1688067	single nucleotide variant	NM_018026.4(PACS1):c.2272G>A (p.Glu758Lys)	not provided [RCV002265293]	uncertain significance	11	66238825	66238825	Human		name
153301128	CV1688974	single nucleotide variant	NM_018026.4(PACS1):c.2305G>A (p.Asp769Asn)	Schuurs-Hoeijmakers syndrome [RCV002266702]\|not provided [RCV003403762]	conflicting interpretations of pathogenicity\|uncertain significance	11	66239153	66239153	Human	1	name
153349879	CV1693304	single nucleotide variant	NM_018026.4(PACS1):c.1574G>C (p.Arg525Thr)	not provided [RCV002276310]	uncertain significance	11	66230888	66230888	Human		name
155641857	CV1706070	single nucleotide variant	NM_018026.4(PACS1):c.2648A>G (p.Asn883Ser)	not provided [RCV002286932]	uncertain significance	11	66241645	66241645	Human		name
155744514	CV1771479	single nucleotide variant	NM_018026.4(PACS1):c.2515G>A (p.Asp839Asn)	Schuurs-Hoeijmakers syndrome [RCV002303260]	uncertain significance	11	66241512	66241512	Human	1	name
155691678	CV1772600	single nucleotide variant	NM_018026.4(PACS1):c.2591G>A (p.Ser864Asn)	Schuurs-Hoeijmakers syndrome [RCV002294939]	uncertain significance	11	66241588	66241588	Human	1	name
155707793	CV1772755	single nucleotide variant	NM_018026.4(PACS1):c.1603C>T (p.Pro535Ser)	Schuurs-Hoeijmakers syndrome [RCV002300409]	uncertain significance	11	66230917	66230917	Human	1	name
155738566	CV1772978	single nucleotide variant	NM_018026.4(PACS1):c.1069G>C (p.Glu357Gln)	Schuurs-Hoeijmakers syndrome [RCV002302166]	uncertain significance	11	66220661	66220661	Human	1	name
155724785	CV1773609	single nucleotide variant	NM_018026.4(PACS1):c.2173G>A (p.Val725Met)	Schuurs-Hoeijmakers syndrome [RCV002301410]	uncertain significance	11	66235369	66235369	Human	1	name
155723408	CV1774345	single nucleotide variant	NM_018026.4(PACS1):c.2353A>G (p.Ser785Gly)	Schuurs-Hoeijmakers syndrome [RCV002296788]	benign\|uncertain significance	11	66239201	66239201	Human	1	name
155717151	CV1775411	single nucleotide variant	NM_018026.4(PACS1):c.2437A>C (p.Asn813His)	Schuurs-Hoeijmakers syndrome [RCV002301100]\|not provided [RCV004697209]	uncertain significance	11	66241434	66241434	Human	1	name
155749081	CV1777540	single nucleotide variant	NM_018026.4(PACS1):c.1577C>T (p.Thr526Ile)	Schuurs-Hoeijmakers syndrome [RCV002304277]	uncertain significance	11	66230891	66230891	Human	1	name
155740086	CV1779624	single nucleotide variant	NM_018026.4(PACS1):c.1295T>C (p.Met432Thr)	Schuurs-Hoeijmakers syndrome [RCV002302255]	uncertain significance	11	66227505	66227505	Human	1	name
155735022	CV1781205	single nucleotide variant	NM_018026.4(PACS1):c.1347T>A (p.Asp449Glu)	Schuurs-Hoeijmakers syndrome [RCV003102296]\|not provided [RCV002308994]	uncertain significance	11	66227557	66227557	Human	1	name
155691626	CV1827321	single nucleotide variant	NM_018026.4(PACS1):c.1511C>T (p.Thr504Ile)	Inborn genetic diseases [RCV002392217]	uncertain significance	11	66230825	66230825	Human	1	name
155712435	CV1833307	single nucleotide variant	NM_018026.4(PACS1):c.1473G>C (p.Gln491His)	Inborn genetic diseases [RCV002396987]\|Schuurs-Hoeijmakers syndrome [RCV003653625]	uncertain significance	11	66230646	66230646	Human	2	name
155721887	CV1834643	single nucleotide variant	NM_018026.4(PACS1):c.1056G>T (p.Glu352Asp)	Inborn genetic diseases [RCV002398999]	likely benign	11	66220648	66220648	Human	1	name
155700846	CV1851156	single nucleotide variant	NM_018026.4(PACS1):c.2315T>C (p.Val772Ala)	Inborn genetic diseases [RCV002428513]	likely benign	11	66239163	66239163	Human	1	name
155797110	CV1859236	single nucleotide variant	NM_018026.4(PACS1):c.2705C>T (p.Ser902Phe)	not provided [RCV002464864]	uncertain significance	11	66242960	66242960	Human		name
155795440	CV1861300	single nucleotide variant	NM_018026.4(PACS1):c.1561C>T (p.Pro521Ser)	not provided [RCV002469582]	uncertain significance	11	66230875	66230875	Human		name
155797012	CV1863125	single nucleotide variant	NM_018026.4(PACS1):c.1129A>C (p.Asn377His)	Schuurs-Hoeijmakers syndrome [RCV002470399]	uncertain significance	11	66220721	66220721	Human	1	name
156407922	CV1873106	single nucleotide variant	NM_018026.4(PACS1):c.1355T>G (p.Leu452Trp)	Schuurs-Hoeijmakers syndrome [RCV003071070]	uncertain significance	11	66227565	66227565	Human	1	name
156408268	CV1873365	single nucleotide variant	NM_018026.4(PACS1):c.2156C>T (p.Thr719Met)	Schuurs-Hoeijmakers syndrome [RCV003071198]	uncertain significance	11	66235352	66235352	Human	1	name
156407232	CV1875047	single nucleotide variant	NM_018026.4(PACS1):c.1466A>T (p.Asp489Val)	Schuurs-Hoeijmakers syndrome [RCV003070781]	uncertain significance	11	66230639	66230639	Human	1	name
156224478	CV1875656	single nucleotide variant	NM_018026.4(PACS1):c.1427C>T (p.Pro476Leu)	Schuurs-Hoeijmakers syndrome [RCV003059073]	uncertain significance	11	66230600	66230600	Human	1	name
156377312	CV1878810	single nucleotide variant	NM_018026.4(PACS1):c.2062G>T (p.Gly688Cys)	Schuurs-Hoeijmakers syndrome [RCV003066849]	uncertain significance	11	66234200	66234200	Human	1	name
156039881	CV1890955	single nucleotide variant	NM_018026.4(PACS1):c.2144A>G (p.Asn715Ser)	Inborn genetic diseases [RCV003250753]\|Schuurs-Hoeijmakers syndrome [RCV003078473]	benign\|likely benign	11	66235340	66235340	Human	2	name
156317920	CV1903942	single nucleotide variant	NM_018026.4(PACS1):c.1325C>G (p.Ser442Cys)	Schuurs-Hoeijmakers syndrome [RCV003088828]	benign\|uncertain significance	11	66227535	66227535	Human	1	name
156358458	CV1904098	single nucleotide variant	NM_018026.4(PACS1):c.2082T>G (p.Ser694Arg)	Schuurs-Hoeijmakers syndrome [RCV002581558]	uncertain significance	11	66234220	66234220	Human	1	name
156013156	CV1912534	single nucleotide variant	NM_018026.4(PACS1):c.1622C>T (p.Thr541Met)	Schuurs-Hoeijmakers syndrome [RCV002619007]	uncertain significance	11	66230936	66230936	Human	1	name
156358226	CV1914124	single nucleotide variant	NM_018026.4(PACS1):c.1504G>T (p.Val502Leu)	Schuurs-Hoeijmakers syndrome [RCV002632490]	uncertain significance	11	66230818	66230818	Human	1	name
155955125	CV1915336	single nucleotide variant	NM_018026.4(PACS1):c.1447A>G (p.Met483Val)	Schuurs-Hoeijmakers syndrome [RCV002616432]	uncertain significance	11	66230620	66230620	Human	1	name
156059844	CV1924302	single nucleotide variant	NM_018026.4(PACS1):c.2140G>A (p.Val714Ile)	Inborn genetic diseases [RCV005382592]\|Schuurs-Hoeijmakers syndrome [RCV002659656]	likely benign\|uncertain significance	11	66235336	66235336	Human	2	name
156063563	CV1925780	single nucleotide variant	NM_018026.4(PACS1):c.1224G>C (p.Gln408His)	Schuurs-Hoeijmakers syndrome [RCV002621028]	uncertain significance	11	66221178	66221178	Human	1	name
156059216	CV1927619	single nucleotide variant	NM_018026.4(PACS1):c.1613G>C (p.Gly538Ala)	Schuurs-Hoeijmakers syndrome [RCV002659632]	benign\|uncertain significance	11	66230927	66230927	Human	1	name
156419025	CV1929225	single nucleotide variant	NM_018026.4(PACS1):c.1408A>G (p.Ser470Gly)	Schuurs-Hoeijmakers syndrome [RCV002612238]	benign\|uncertain significance	11	66230581	66230581	Human	1	name
156300251	CV1929529	single nucleotide variant	NM_018026.4(PACS1):c.1612G>A (p.Gly538Ser)	Schuurs-Hoeijmakers syndrome [RCV002647603]	uncertain significance	11	66230926	66230926	Human	1	name
156163720	CV1929868	single nucleotide variant	NM_018026.4(PACS1):c.1826G>A (p.Arg609Gln)	Inborn genetic diseases [RCV003377910]\|Schuurs-Hoeijmakers syndrome [RCV002624471]	uncertain significance	11	66233054	66233054	Human	2	name
156037163	CV1932833	single nucleotide variant	NM_018026.4(PACS1):c.1845C>G (p.Asn615Lys)	Schuurs-Hoeijmakers syndrome [RCV002637423]	likely benign\|uncertain significance	11	66233791	66233791	Human	1	name
155950700	CV1936051	single nucleotide variant	NM_018026.4(PACS1):c.2794G>A (p.Glu932Lys)	not provided [RCV002511703]	uncertain significance	11	66243182	66243182	Human		name
156445333	CV1945340	single nucleotide variant	NM_018026.4(PACS1):c.2374G>A (p.Ala792Thr)	Schuurs-Hoeijmakers syndrome [RCV003116274]	benign\|uncertain significance	11	66239222	66239222	Human	1	name
156201883	CV1952487	single nucleotide variant	NM_018026.4(PACS1):c.1346A>G (p.Asp449Gly)	Schuurs-Hoeijmakers syndrome [RCV002574807]	uncertain significance	11	66227556	66227556	Human	1	name
156415440	CV1991063	single nucleotide variant	NM_018026.4(PACS1):c.2377A>G (p.Thr793Ala)	Schuurs-Hoeijmakers syndrome [RCV002609668]	uncertain significance	11	66239225	66239225	Human	1	name
156251449	CV1993413	single nucleotide variant	NM_018026.4(PACS1):c.2425G>A (p.Val809Met)	Schuurs-Hoeijmakers syndrome [RCV002627464]	uncertain significance	11	66239273	66239273	Human	1	name
156367407	CV2010860	single nucleotide variant	NM_018026.4(PACS1):c.1910C>T (p.Ser637Phe)	Schuurs-Hoeijmakers syndrome [RCV002676658]	benign	11	66233856	66233856	Human	1	name
156251764	CV2029639	single nucleotide variant	NM_018026.4(PACS1):c.1027G>A (p.Val343Ile)	Inborn genetic diseases [RCV004661462]\|Schuurs-Hoeijmakers syndrome [RCV002746013]	uncertain significance	11	66219794	66219794	Human	2	name
156161684	CV2033900	single nucleotide variant	NM_018026.4(PACS1):c.2084G>A (p.Arg695His)	Schuurs-Hoeijmakers syndrome [RCV002741568]	uncertain significance	11	66234222	66234222	Human	1	name
155929139	CV2041699	single nucleotide variant	NM_018026.4(PACS1):c.1835G>A (p.Arg612His)	Schuurs-Hoeijmakers syndrome [RCV002751070]	uncertain significance	11	66233063	66233063	Human	1	name
155939443	CV2054825	single nucleotide variant	NM_018026.4(PACS1):c.2698G>A (p.Val900Met)	Schuurs-Hoeijmakers syndrome [RCV002815592]	benign	11	66242953	66242953	Human	1	name
156204617	CV2063069	single nucleotide variant	NM_018026.4(PACS1):c.2402C>G (p.Ser801Cys)	Schuurs-Hoeijmakers syndrome [RCV002829066]	uncertain significance	11	66239250	66239250	Human	1	name
156310164	CV2063350	single nucleotide variant	NM_018026.4(PACS1):c.1679C>T (p.Ala560Val)	Schuurs-Hoeijmakers syndrome [RCV002834073]	uncertain significance	11	66232224	66232224	Human	1	name
156174146	CV2071902	single nucleotide variant	NM_018026.4(PACS1):c.1939G>T (p.Ala647Ser)	Schuurs-Hoeijmakers syndrome [RCV002851624]	uncertain significance	11	66233885	66233885	Human	1	name
156205324	CV2073976	single nucleotide variant	NM_018026.4(PACS1):c.2029G>A (p.Asp677Asn)	Schuurs-Hoeijmakers syndrome [RCV002829093]	uncertain significance	11	66234167	66234167	Human	1	name
10408549	CV207889	microsatellite	NM_018026.4(PACS1):c.95CGC[4] (p.Pro34dup)	not provided [RCV002307440]\|not specified [RCV000194892]	likely benign\|uncertain significance	11	66070578	66070579	Human		name
156137609	CV2094351	single nucleotide variant	NM_018026.4(PACS1):c.1270C>T (p.Leu424Phe)	Schuurs-Hoeijmakers syndrome [RCV002890179]	uncertain significance	11	66221224	66221224	Human	1	name
156205105	CV2103659	single nucleotide variant	NM_018026.4(PACS1):c.1126T>G (p.Tyr376Asp)	Schuurs-Hoeijmakers syndrome [RCV002931833]	uncertain significance	11	66220718	66220718	Human	1	name
156135440	CV2109537	single nucleotide variant	NM_018026.4(PACS1):c.1238C>T (p.Thr413Met)	Schuurs-Hoeijmakers syndrome [RCV002914706]	benign\|conflicting interpretations of pathogenicity	11	66221192	66221192	Human	1	name
156132124	CV2112989	single nucleotide variant	NM_018026.4(PACS1):c.1834C>T (p.Arg612Cys)	Schuurs-Hoeijmakers syndrome [RCV002914593]	uncertain significance	11	66233062	66233062	Human	1	name
156211167	CV2114451	single nucleotide variant	NM_018026.4(PACS1):c.2885C>G (p.Ala962Gly)	Schuurs-Hoeijmakers syndrome [RCV002932068]	uncertain significance	11	66243273	66243273	Human	1	name
156362616	CV2119594	single nucleotide variant	NM_018026.4(PACS1):c.1299A>T (p.Glu433Asp)	Schuurs-Hoeijmakers syndrome [RCV002967077]	uncertain significance	11	66227509	66227509	Human	1	name
156378105	CV2120836	single nucleotide variant	NM_018026.4(PACS1):c.1067G>A (p.Arg356His)	Schuurs-Hoeijmakers syndrome [RCV002942917]	benign\|uncertain significance	11	66220659	66220659	Human	1	name
156011870	CV2122958	single nucleotide variant	NM_018026.4(PACS1):c.1414A>G (p.Ser472Gly)	Schuurs-Hoeijmakers syndrome [RCV002975691]	uncertain significance	11	66230587	66230587	Human	1	name
156123233	CV2124759	single nucleotide variant	NM_018026.4(PACS1):c.2528C>T (p.Ala843Val)	Inborn genetic diseases [RCV002928862]\|Schuurs-Hoeijmakers syndrome [RCV002953579]	benign\|likely benign	11	66241525	66241525	Human	2	name
156266700	CV2125416	single nucleotide variant	NM_018026.4(PACS1):c.1216A>T (p.Met406Leu)	Inborn genetic diseases [RCV004068092]\|Schuurs-Hoeijmakers syndrome [RCV002934081]	benign\|likely benign	11	66221170	66221170	Human	2	name
156151348	CV2131770	single nucleotide variant	NM_018026.4(PACS1):c.2133G>A (p.Met711Ile)	Schuurs-Hoeijmakers syndrome [RCV002982664]	benign\|uncertain significance	11	66235329	66235329	Human	1	name
156219646	CV2132810	single nucleotide variant	NM_018026.4(PACS1):c.1972C>T (p.Arg658Cys)	Schuurs-Hoeijmakers syndrome [RCV003007326]	uncertain significance	11	66233918	66233918	Human	1	name
155963655	CV2140903	single nucleotide variant	NM_018026.4(PACS1):c.2455G>A (p.Val819Met)	Inborn genetic diseases [RCV005399057]\|Schuurs-Hoeijmakers syndrome [RCV003015593]	benign\|likely benign\|uncertain significance	11	66241452	66241452	Human	2	name
156121125	CV2151824	single nucleotide variant	NM_018026.4(PACS1):c.2062G>A (p.Gly688Ser)	Schuurs-Hoeijmakers syndrome [RCV003002985]	uncertain significance	11	66234200	66234200	Human	1	name
156090531	CV2155622	single nucleotide variant	NM_018026.4(PACS1):c.2649C>A (p.Asn883Lys)	Schuurs-Hoeijmakers syndrome [RCV003020665]	uncertain significance	11	66241646	66241646	Human	1	name
156291088	CV2156276	single nucleotide variant	NM_018026.4(PACS1):c.1595A>G (p.Glu532Gly)	Schuurs-Hoeijmakers syndrome [RCV003009972]	uncertain significance	11	66230909	66230909	Human	1	name
156030858	CV2156405	single nucleotide variant	NM_018026.4(PACS1):c.1534C>T (p.Pro512Ser)	Schuurs-Hoeijmakers syndrome [RCV003018668]	benign	11	66230848	66230848	Human	1	name
156186499	CV2164183	single nucleotide variant	NM_018026.4(PACS1):c.1651C>A (p.Gln551Lys)	Schuurs-Hoeijmakers syndrome [RCV003023995]	uncertain significance	11	66232196	66232196	Human	1	name
156186102	CV2169356	single nucleotide variant	NM_018026.4(PACS1):c.1328C>T (p.Thr443Ile)	Schuurs-Hoeijmakers syndrome [RCV003041504]	uncertain significance	11	66227538	66227538	Human	1	name
156396876	CV2178268	single nucleotide variant	NM_018026.4(PACS1):c.2021G>T (p.Gly674Val)	Schuurs-Hoeijmakers syndrome [RCV003051923]	uncertain significance	11	66234159	66234159	Human	1	name
156197511	CV2182618	single nucleotide variant	NM_018026.4(PACS1):c.1771G>A (p.Val591Met)	Schuurs-Hoeijmakers syndrome [RCV003024337]	uncertain significance	11	66232999	66232999	Human	1	name
156246357	CV2192485	single nucleotide variant	NM_018026.4(PACS1):c.1721G>T (p.Trp574Leu)	not provided [RCV003059848]	uncertain significance	11	66232266	66232266	Human		name
156388612	CV2231920	single nucleotide variant	NM_018026.4(PACS1):c.1775G>A (p.Cys592Tyr)	Inborn genetic diseases [RCV002724166]	uncertain significance	11	66233003	66233003	Human	1	name
243052831	CV2404462	single nucleotide variant	NM_018026.4(PACS1):c.1553T>G (p.Leu518Arg)	not provided [RCV003129488]	uncertain significance	11	66230867	66230867	Human		name
243062481	CV2404926	single nucleotide variant	NM_018026.4(PACS1):c.2399C>A (p.Pro800Gln)	Holoprosencephaly 9 [RCV003140475]	uncertain significance	11	66239247	66239247	Human		name
243059265	CV2408489	single nucleotide variant	NM_018026.4(PACS1):c.1372C>G (p.Leu458Val)	Schuurs-Hoeijmakers syndrome [RCV003134728]	uncertain significance	11	66227582	66227582	Human	1	name
243055076	CV2408491	single nucleotide variant	NM_018026.4(PACS1):c.1269C>A (p.Ser423Arg)	Schuurs-Hoeijmakers syndrome [RCV003131871]	uncertain significance	11	66221223	66221223	Human	1	name
243053613	CV2416351	single nucleotide variant	NM_018026.4(PACS1):c.1927G>A (p.Val643Ile)	Schuurs-Hoeijmakers syndrome [RCV003649432]\|not provided [RCV003149412]	uncertain significance	11	66233873	66233873	Human	1	name
329954400	CV2669084	single nucleotide variant	NM_018026.4(PACS1):c.2348C>A (p.Pro783His)	See cases [RCV003232917]	uncertain significance	11	66239196	66239196	Human		name
401724825	CV2672322	single nucleotide variant	NM_018026.4(PACS1):c.1471C>G (p.Gln491Glu)	not provided [RCV003239223]	uncertain significance	11	66230644	66230644	Human		name
401732936	CV2736784	single nucleotide variant	NM_018026.4(PACS1):c.2690A>G (p.Glu897Gly)	not provided [RCV003313546]	likely pathogenic\|uncertain significance	11	66242945	66242945	Human		name
401722600	CV2737710	single nucleotide variant	NM_018026.4(PACS1):c.1244T>C (p.Ile415Thr)	not provided [RCV003314882]	uncertain significance	11	66221198	66221198	Human		name
401796731	CV2739712	single nucleotide variant	NM_018026.4(PACS1):c.1731G>C (p.Gln577His)	not provided [RCV003319673]	uncertain significance	11	66232276	66232276	Human		name
401871218	CV2749517	single nucleotide variant	NM_018026.4(PACS1):c.2214T>A (p.Asp738Glu)	not provided [RCV003332645]	uncertain significance	11	66235904	66235904	Human		name
401927264	CV2796988	single nucleotide variant	NM_018026.4(PACS1):c.2026G>A (p.Val676Ile)	PACS1-related disorder [RCV003406194]	uncertain significance	11	66234164	66234164	Human		name , trait , alternate_id
401903615	CV2800046	single nucleotide variant	NM_018026.4(PACS1):c.1676A>G (p.Asp559Gly)	PACS1-related disorder [RCV003394492]	uncertain significance	11	66232221	66232221	Human		name , trait , alternate_id
401909498	CV2813368	single nucleotide variant	NM_018026.4(PACS1):c.1226C>T (p.Ser409Phe)	not provided [RCV003398011]	uncertain significance	11	66221180	66221180	Human		name
401917221	CV2829732	single nucleotide variant	NM_018026.4(PACS1):c.2441G>A (p.Ser814Asn)	not provided [RCV003443776]	uncertain significance	11	66241438	66241438	Human		name
401948522	CV2832619	single nucleotide variant	NM_018026.4(PACS1):c.2089G>C (p.Glu697Gln)	Schuurs-Hoeijmakers syndrome [RCV003448599]	uncertain significance	11	66234227	66234227	Human	1	name
404978388	CV2850683	single nucleotide variant	NM_018026.4(PACS1):c.2309C>G (p.Ser770Cys)	Schuurs-Hoeijmakers syndrome [RCV003487094]	uncertain significance	11	66239157	66239157	Human	1	name
405086685	CV2857891	single nucleotide variant	NM_018026.4(PACS1):c.2674A>T (p.Ser892Cys)	Schuurs-Hoeijmakers syndrome [RCV003536103]	uncertain significance	11	66242929	66242929	Human	1	name
405087399	CV2858401	single nucleotide variant	NM_018026.4(PACS1):c.1677T>G (p.Asp559Glu)	Schuurs-Hoeijmakers syndrome [RCV003536162]	uncertain significance	11	66232222	66232222	Human	1	name
405089873	CV2859314	single nucleotide variant	NM_018026.4(PACS1):c.1879G>C (p.Ala627Pro)	Schuurs-Hoeijmakers syndrome [RCV003536268]	uncertain significance	11	66233825	66233825	Human	1	name
405088437	CV2862239	single nucleotide variant	NM_018026.4(PACS1):c.2345C>T (p.Pro782Leu)	Schuurs-Hoeijmakers syndrome [RCV003536249]	uncertain significance	11	66239193	66239193	Human	1	name
405088573	CV2862466	single nucleotide variant	NM_018026.4(PACS1):c.1002T>G (p.Phe334Leu)	Schuurs-Hoeijmakers syndrome [RCV003536261]	uncertain significance	11	66219769	66219769	Human	1	name
405143915	CV2872975	single nucleotide variant	NM_018026.4(PACS1):c.1825C>T (p.Arg609Trp)	Schuurs-Hoeijmakers syndrome [RCV003537756]	uncertain significance	11	66233053	66233053	Human	1	name
405154284	CV2883201	single nucleotide variant	NM_018026.4(PACS1):c.2311C>T (p.Pro771Ser)	Schuurs-Hoeijmakers syndrome [RCV003539183]	uncertain significance	11	66239159	66239159	Human	1	name
405150319	CV2885261	single nucleotide variant	NM_018026.4(PACS1):c.1891G>C (p.Gly631Arg)	Schuurs-Hoeijmakers syndrome [RCV003538827]	uncertain significance	11	66233837	66233837	Human	1	name
405154997	CV2887200	single nucleotide variant	NM_018026.4(PACS1):c.2089G>A (p.Glu697Lys)	Schuurs-Hoeijmakers syndrome [RCV003539273]	uncertain significance	11	66234227	66234227	Human	1	name
405154658	CV2890265	single nucleotide variant	NM_018026.4(PACS1):c.2534C>T (p.Ser845Leu)	Schuurs-Hoeijmakers syndrome [RCV003539245]	uncertain significance	11	66241531	66241531	Human	1	name
405083608	CV2902715	single nucleotide variant	NM_018026.4(PACS1):c.1658A>G (p.Asn553Ser)	Schuurs-Hoeijmakers syndrome [RCV003535388]	uncertain significance	11	66232203	66232203	Human	1	name
405085269	CV2903336	single nucleotide variant	NM_018026.4(PACS1):c.2083C>T (p.Arg695Cys)	Schuurs-Hoeijmakers syndrome [RCV003535482]	uncertain significance	11	66234221	66234221	Human	1	name
405140919	CV2924616	single nucleotide variant	NM_018026.4(PACS1):c.1370C>T (p.Thr457Ile)	Schuurs-Hoeijmakers syndrome [RCV003536965]	uncertain significance	11	66227580	66227580	Human	1	name
405147369	CV2928833	single nucleotide variant	NM_018026.4(PACS1):c.2189T>G (p.Leu730Arg)	Schuurs-Hoeijmakers syndrome [RCV003538148]	uncertain significance	11	66235385	66235385	Human	1	name
405145991	CV2930640	single nucleotide variant	NM_018026.4(PACS1):c.2228A>C (p.Gln743Pro)	Schuurs-Hoeijmakers syndrome [RCV003538021]	uncertain significance	11	66235918	66235918	Human	1	name
405147652	CV2931847	single nucleotide variant	NM_018026.4(PACS1):c.1427C>A (p.Pro476Gln)	Inborn genetic diseases [RCV005387208]\|Schuurs-Hoeijmakers syndrome [RCV003538132]	likely benign\|uncertain significance	11	66230600	66230600	Human	2	name
405012572	CV2937162	single nucleotide variant	NM_018026.4(PACS1):c.2605C>A (p.Leu869Ile)	PACS1-related disorder [RCV004753701]\|Schuurs-Hoeijmakers syndrome [RCV003649487]	uncertain significance	11	66241602	66241602	Human	1	name , trait , alternate_id
405013032	CV2938837	single nucleotide variant	NM_018026.4(PACS1):c.2405T>C (p.Met802Thr)	Schuurs-Hoeijmakers syndrome [RCV003649535]	uncertain significance	11	66239253	66239253	Human	1	name
405012927	CV2944905	single nucleotide variant	NM_018026.4(PACS1):c.1517G>A (p.Arg506Gln)	Schuurs-Hoeijmakers syndrome [RCV003649523]	benign\|uncertain significance	11	66230831	66230831	Human	1	name
405013070	CV2945733	single nucleotide variant	NM_018026.4(PACS1):c.2767A>G (p.Met923Val)	Inborn genetic diseases [RCV004371541]\|Schuurs-Hoeijmakers syndrome [RCV003649539]\|not specified [RCV005407204]	uncertain significance	11	66243022	66243022	Human	2	name
405012404	CV2946499	single nucleotide variant	NM_018026.4(PACS1):c.1883C>T (p.Ala628Val)	Schuurs-Hoeijmakers syndrome [RCV003649470]	uncertain significance	11	66233829	66233829	Human	1	name
405013127	CV2949220	single nucleotide variant	NM_018026.4(PACS1):c.1220C>T (p.Ser407Leu)	Schuurs-Hoeijmakers syndrome [RCV003649545]	uncertain significance	11	66221174	66221174	Human	1	name
405013229	CV2953380	single nucleotide variant	NM_018026.4(PACS1):c.1771G>C (p.Val591Leu)	Schuurs-Hoeijmakers syndrome [RCV003649557]	uncertain significance	11	66232999	66232999	Human	1	name
405013716	CV2954322	single nucleotide variant	NM_018026.4(PACS1):c.2125C>T (p.Arg709Trp)	Schuurs-Hoeijmakers syndrome [RCV003649588]	uncertain significance	11	66235321	66235321	Human	1	name
405013772	CV2961611	single nucleotide variant	NM_018026.4(PACS1):c.2179G>A (p.Glu727Lys)	Schuurs-Hoeijmakers syndrome [RCV003649594]	uncertain significance	11	66235375	66235375	Human	1	name
405014345	CV2963549	single nucleotide variant	NM_018026.4(PACS1):c.2045G>T (p.Ser682Ile)	Schuurs-Hoeijmakers syndrome [RCV003649656]	benign\|uncertain significance	11	66234183	66234183	Human	1	name
405014980	CV2965283	single nucleotide variant	NM_018026.4(PACS1):c.2401T>C (p.Ser801Pro)	Schuurs-Hoeijmakers syndrome [RCV003649726]	uncertain significance	11	66239249	66239249	Human	1	name
405014473	CV2967323	single nucleotide variant	NM_018026.4(PACS1):c.2357C>T (p.Ser786Leu)	Schuurs-Hoeijmakers syndrome [RCV003649669]	uncertain significance	11	66239205	66239205	Human	1	name
405014256	CV2970388	single nucleotide variant	NM_018026.4(PACS1):c.1753G>C (p.Asp585His)	Schuurs-Hoeijmakers syndrome [RCV003649646]	uncertain significance	11	66232981	66232981	Human	1	name
405015612	CV2976490	single nucleotide variant	NM_018026.4(PACS1):c.1717G>A (p.Asp573Asn)	Schuurs-Hoeijmakers syndrome [RCV003649812]	likely benign	11	66232262	66232262	Human	1	name
405022755	CV2978571	single nucleotide variant	NM_018026.4(PACS1):c.2892A>C (p.Ter964Cys)	Schuurs-Hoeijmakers syndrome [RCV003650986]	uncertain significance	11	66243280	66243280	Human	1	name
405022402	CV2979059	single nucleotide variant	NM_018026.4(PACS1):c.1759C>T (p.Arg587Trp)	Schuurs-Hoeijmakers syndrome [RCV003651022]	uncertain significance	11	66232987	66232987	Human	1	name
405022420	CV2979092	single nucleotide variant	NM_018026.4(PACS1):c.1606G>T (p.Asp536Tyr)	Schuurs-Hoeijmakers syndrome [RCV003651024]	uncertain significance	11	66230920	66230920	Human	1	name
405022979	CV2984885	single nucleotide variant	NM_018026.4(PACS1):c.2108A>T (p.Gln703Leu)	Schuurs-Hoeijmakers syndrome [RCV003650914]	benign	11	66235304	66235304	Human	1	name
405023311	CV2986278	single nucleotide variant	NM_018026.4(PACS1):c.2422A>G (p.Ile808Val)	Schuurs-Hoeijmakers syndrome [RCV003651051]\|not provided [RCV005250321]	uncertain significance	11	66239270	66239270	Human	1	name
405025313	CV3002542	single nucleotide variant	NM_018026.4(PACS1):c.1784C>T (p.Ser595Phe)	Schuurs-Hoeijmakers syndrome [RCV003651309]	uncertain significance	11	66233012	66233012	Human	1	name
405041567	CV3007534	single nucleotide variant	NM_018026.4(PACS1):c.1546C>T (p.Arg516Trp)	Schuurs-Hoeijmakers syndrome [RCV003653683]	likely benign\|uncertain significance	11	66230860	66230860	Human	1	name
405041095	CV3007682	single nucleotide variant	NM_018026.4(PACS1):c.1804G>A (p.Val602Met)	Inborn genetic diseases [RCV004953388]\|Schuurs-Hoeijmakers syndrome [RCV003653689]	benign\|likely benign	11	66233032	66233032	Human	2	name
405033029	CV3007782	single nucleotide variant	NM_018026.4(PACS1):c.1755C>A (p.Asp585Glu)	Schuurs-Hoeijmakers syndrome [RCV003652463]	uncertain significance	11	66232983	66232983	Human	1	name
405033051	CV3007845	single nucleotide variant	NM_018026.4(PACS1):c.1987C>T (p.Pro663Ser)	Schuurs-Hoeijmakers syndrome [RCV003652465]	uncertain significance	11	66233933	66233933	Human	1	name
405034876	CV3012539	single nucleotide variant	NM_018026.4(PACS1):c.1661A>G (p.Gln554Arg)	Schuurs-Hoeijmakers syndrome [RCV003652599]	uncertain significance	11	66232206	66232206	Human	1	name
405041427	CV3017930	single nucleotide variant	NM_018026.4(PACS1):c.2336C>T (p.Ser779Phe)	Schuurs-Hoeijmakers syndrome [RCV003653725]	benign	11	66239184	66239184	Human	1	name
405042895	CV3018751	single nucleotide variant	NM_018026.4(PACS1):c.1523A>G (p.Lys508Arg)	Inborn genetic diseases [RCV004953389]\|Schuurs-Hoeijmakers syndrome [RCV003653809]\|not specified [RCV004690454]	benign\|likely benign\|uncertain significance	11	66230837	66230837	Human	2	name
405042445	CV3029203	single nucleotide variant	NM_018026.4(PACS1):c.2152G>T (p.Ala718Ser)	Schuurs-Hoeijmakers syndrome [RCV003653822]	uncertain significance	11	66235348	66235348	Human	1	name
405045805	CV3033284	single nucleotide variant	NM_018026.4(PACS1):c.1532C>T (p.Thr511Met)	Schuurs-Hoeijmakers syndrome [RCV003654105]	uncertain significance	11	66230846	66230846	Human	1	name
405017423	CV3044340	single nucleotide variant	NM_018026.4(PACS1):c.2494G>A (p.Gly832Arg)	Schuurs-Hoeijmakers syndrome [RCV003650032]\|not specified [RCV004801385]	benign\|uncertain significance	11	66241491	66241491	Human	1	name
405018929	CV3048564	single nucleotide variant	NM_018026.4(PACS1):c.1218G>A (p.Met406Ile)	Schuurs-Hoeijmakers syndrome [RCV003650189]	benign	11	66221172	66221172	Human	1	name
405027385	CV3068793	single nucleotide variant	NM_018026.4(PACS1):c.2071G>T (p.Asp691Tyr)	Schuurs-Hoeijmakers syndrome [RCV003651497]	uncertain significance	11	66234209	66234209	Human	1	name
405038615	CV3076834	single nucleotide variant	NM_018026.4(PACS1):c.2609C>T (p.Ser870Phe)	Schuurs-Hoeijmakers syndrome [RCV003652971]	uncertain significance	11	66241606	66241606	Human	1	name
405037600	CV3079016	single nucleotide variant	NM_018026.4(PACS1):c.1463C>T (p.Thr488Met)	Schuurs-Hoeijmakers syndrome [RCV003652838]	benign	11	66230636	66230636	Human	1	name
405039806	CV3080320	single nucleotide variant	NM_018026.4(PACS1):c.2145C>G (p.Asn715Lys)	Schuurs-Hoeijmakers syndrome [RCV003653084]	uncertain significance	11	66235341	66235341	Human	1	name
405176026	CV3123074	single nucleotide variant	NM_018026.4(PACS1):c.1789G>A (p.Val597Met)	Schuurs-Hoeijmakers syndrome [RCV003819473]	uncertain significance	11	66233017	66233017	Human	1	name
405255132	CV3171928	single nucleotide variant	NM_018026.4(PACS1):c.2363T>C (p.Leu788Pro)	Schuurs-Hoeijmakers syndrome [RCV003872051]	uncertain significance	11	66239211	66239211	Human	1	name
402509574	CV3182181	single nucleotide variant	NM_018026.4(PACS1):c.1885G>A (p.Val629Met)	Schuurs-Hoeijmakers syndrome [RCV003878835]	likely benign	11	66233831	66233831	Human	1	name
404983347	CV3184309	single nucleotide variant	NM_018026.4(PACS1):c.1439A>G (p.Lys480Arg)	Schuurs-Hoeijmakers syndrome [RCV003880801]	uncertain significance	11	66230612	66230612	Human	1	name
405270232	CV3187656	single nucleotide variant	NM_018026.4(PACS1):c.2381C>T (p.Ala794Val)	not provided [RCV003887740]	uncertain significance	11	66239229	66239229	Human		name
405271234	CV3209363	single nucleotide variant	NM_018026.4(PACS1):c.1423G>A (p.Val475Met)	PACS1-related disorder [RCV003949703]\|Schuurs-Hoeijmakers syndrome [RCV005101884]	likely benign\|uncertain significance	11	66230596	66230596	Human	1	name , trait , alternate_id
405740959	CV3367483	single nucleotide variant	NM_018026.4(PACS1):c.1366G>C (p.Asp456His)	Inborn genetic diseases [RCV004497732]	uncertain significance	11	66227576	66227576	Human	1	name
405740976	CV3367485	single nucleotide variant	NM_018026.4(PACS1):c.1903C>G (p.Leu635Val)	Inborn genetic diseases [RCV004497734]	uncertain significance	11	66233849	66233849	Human	1	name
405740984	CV3367486	single nucleotide variant	NM_018026.4(PACS1):c.1909T>C (p.Ser637Pro)	Inborn genetic diseases [RCV004497735]	uncertain significance	11	66233855	66233855	Human	1	name
405740992	CV3367487	single nucleotide variant	NM_018026.4(PACS1):c.1909T>G (p.Ser637Ala)	Inborn genetic diseases [RCV004497736]	uncertain significance	11	66233855	66233855	Human	1	name
407426347	CV3409884	single nucleotide variant	NM_018026.4(PACS1):c.2428G>C (p.Gly810Arg)	not provided [RCV004585816]	uncertain significance	11	66239276	66239276	Human		name
407424846	CV3410923	single nucleotide variant	NM_018026.4(PACS1):c.1741G>A (p.Glu581Lys)	not provided [RCV004588613]	uncertain significance	11	66232969	66232969	Human		name
407478828	CV3470053	single nucleotide variant	NM_018026.4(PACS1):c.2392T>A (p.Ser798Thr)	Inborn genetic diseases [RCV004663991]	uncertain significance	11	66239240	66239240	Human	1	name
407478834	CV3470054	single nucleotide variant	NM_018026.4(PACS1):c.2720T>C (p.Ile907Thr)	Inborn genetic diseases [RCV004663992]	uncertain significance	11	66242975	66242975	Human	1	name
407478839	CV3470055	single nucleotide variant	NM_018026.4(PACS1):c.1390G>T (p.Asp464Tyr)	Inborn genetic diseases [RCV004663993]\|Schuurs-Hoeijmakers syndrome [RCV005102350]	uncertain significance	11	66230563	66230563	Human	2	name
408375021	CV3502562	single nucleotide variant	NM_018026.4(PACS1):c.1873A>C (p.Lys625Gln)	not provided [RCV004726149]	uncertain significance	11	66233819	66233819	Human		name
408390776	CV3521010	single nucleotide variant	NM_018026.4(PACS1):c.1058A>G (p.His353Arg)	not provided [RCV004762832]	uncertain significance	11	66220650	66220650	Human		name
408394067	CV3521704	single nucleotide variant	NM_018026.4(PACS1):c.1978C>T (p.Leu660Phe)	Schuurs-Hoeijmakers syndrome [RCV004764503]	uncertain significance	11	66233924	66233924	Human	1	name
408390465	CV3527566	single nucleotide variant	NM_018026.4(PACS1):c.1990C>T (p.Leu664Phe)	not provided [RCV004774833]	uncertain significance	11	66233936	66233936	Human		name
408392299	CV3528081	single nucleotide variant	NM_018026.4(PACS1):c.2566G>T (p.Val856Leu)	not provided [RCV004775849]	uncertain significance	11	66241563	66241563	Human		name
408386544	CV3528980	single nucleotide variant	NM_018026.4(PACS1):c.2561G>A (p.Arg854His)	not provided [RCV004772813]	uncertain significance	11	66241558	66241558	Human		name
596926060	CV3530682	single nucleotide variant	NM_018026.4(PACS1):c.1036G>T (p.Glu346Ter)	not provided [RCV004778267]	uncertain significance	11	66219803	66219803	Human		name
596929083	CV3540782	single nucleotide variant	NM_018026.4(PACS1):c.1762A>C (p.Lys588Gln)	not provided [RCV004795110]	uncertain significance	11	66232990	66232990	Human		name
596944897	CV3543555	single nucleotide variant	NM_018026.4(PACS1):c.2201A>G (p.His734Arg)	not provided [RCV004801677]	uncertain significance	11	66235397	66235397	Human		name
596938923	CV3549897	single nucleotide variant	NM_018026.4(PACS1):c.2512G>A (p.Gly838Ser)	not provided [RCV004812938]	uncertain significance	11	66241509	66241509	Human		name
597702495	CV3578310	single nucleotide variant	NM_018026.4(PACS1):c.1859T>C (p.Met620Thr)	Inborn genetic diseases [RCV004956832]	uncertain significance	11	66233805	66233805	Human	1	name
597702502	CV3578311	single nucleotide variant	NM_018026.4(PACS1):c.2647A>T (p.Asn883Tyr)	Inborn genetic diseases [RCV004956833]	uncertain significance	11	66241644	66241644	Human	1	name
597833030	CV3734826	single nucleotide variant	NM_018026.4(PACS1):c.2033G>C (p.Ser678Thr)	not provided [RCV005054559]	uncertain significance	11	66234171	66234171	Human		name
597837642	CV3758068	single nucleotide variant	NM_018026.4(PACS1):c.1814C>T (p.Ala605Val)	Schuurs-Hoeijmakers syndrome [RCV005085902]	uncertain significance	11	66233042	66233042	Human	1	name
597855356	CV3762701	single nucleotide variant	NM_018026.4(PACS1):c.2285C>A (p.Ser762Tyr)	not specified [RCV005088619]	uncertain significance	11	66238838	66238838	Human		name
597906199	CV3773046	single nucleotide variant	NM_018026.4(PACS1):c.1467T>A (p.Asp489Glu)	Schuurs-Hoeijmakers syndrome [RCV005113110]	uncertain significance	11	66230640	66230640	Human	1	name
597883517	CV3784264	single nucleotide variant	NM_018026.4(PACS1):c.2453A>T (p.Asp818Val)	Schuurs-Hoeijmakers syndrome [RCV005124553]	uncertain significance	11	66241450	66241450	Human	1	name
597941069	CV3785706	single nucleotide variant	NM_018026.4(PACS1):c.2428G>A (p.Gly810Arg)	Schuurs-Hoeijmakers syndrome [RCV005133598]	likely benign	11	66239276	66239276	Human	1	name
597865498	CV3792652	single nucleotide variant	NM_018026.4(PACS1):c.1115G>A (p.Ser372Asn)	Schuurs-Hoeijmakers syndrome [RCV005147459]	uncertain significance	11	66220707	66220707	Human	1	name
597954710	CV3795837	single nucleotide variant	NM_018026.4(PACS1):c.2785G>A (p.Asp929Asn)	Schuurs-Hoeijmakers syndrome [RCV005136847]	uncertain significance	11	66243173	66243173	Human	1	name
597965840	CV3797186	single nucleotide variant	NM_018026.4(PACS1):c.2492C>G (p.Pro831Arg)	Schuurs-Hoeijmakers syndrome [RCV005140145]	uncertain significance	11	66241489	66241489	Human	1	name
597974936	CV3798630	single nucleotide variant	NM_018026.4(PACS1):c.1538T>C (p.Leu513Pro)	Schuurs-Hoeijmakers syndrome [RCV005144218]	uncertain significance	11	66230852	66230852	Human	1	name
597851298	CV3803749	single nucleotide variant	NM_018026.4(PACS1):c.2800A>G (p.Ser934Gly)	Schuurs-Hoeijmakers syndrome [RCV005145466]	uncertain significance	11	66243188	66243188	Human	1	name
597851940	CV3805621	single nucleotide variant	NM_018026.4(PACS1):c.2749G>A (p.Ala917Thr)	Schuurs-Hoeijmakers syndrome [RCV005145551]	benign	11	66243004	66243004	Human	1	name
597898447	CV3806950	single nucleotide variant	NM_018026.4(PACS1):c.2383A>C (p.Thr795Pro)	Schuurs-Hoeijmakers syndrome [RCV005152337]	benign	11	66239231	66239231	Human	1	name
597896416	CV3810534	single nucleotide variant	NM_018026.4(PACS1):c.2771T>C (p.Leu924Pro)	Schuurs-Hoeijmakers syndrome [RCV005152059]	uncertain significance	11	66243026	66243026	Human	1	name
597916961	CV3811088	single nucleotide variant	NM_018026.4(PACS1):c.1811C>T (p.Ser604Phe)	Schuurs-Hoeijmakers syndrome [RCV005155123]	uncertain significance	11	66233039	66233039	Human	1	name
597878724	CV3813725	single nucleotide variant	NM_018026.4(PACS1):c.1075A>G (p.Ile359Val)	Schuurs-Hoeijmakers syndrome [RCV005149467]	uncertain significance	11	66220667	66220667	Human	1	name
597956431	CV3817968	single nucleotide variant	NM_018026.4(PACS1):c.1441A>C (p.Thr481Pro)	Schuurs-Hoeijmakers syndrome [RCV005162419]	uncertain significance	11	66230614	66230614	Human	1	name
597966411	CV3823777	single nucleotide variant	NM_018026.4(PACS1):c.1970T>C (p.Met657Thr)	Schuurs-Hoeijmakers syndrome [RCV005165197]	uncertain significance	11	66233916	66233916	Human	1	name
597907968	CV3829849	single nucleotide variant	NM_018026.4(PACS1):c.1684C>G (p.Leu562Val)	Schuurs-Hoeijmakers syndrome [RCV005182418]	uncertain significance	11	66232229	66232229	Human	1	name
597866564	CV3834477	single nucleotide variant	NM_018026.4(PACS1):c.1423G>C (p.Val475Leu)	Schuurs-Hoeijmakers syndrome [RCV005175844]	benign	11	66230596	66230596	Human	1	name
597871650	CV3835727	single nucleotide variant	NM_018026.4(PACS1):c.2483T>A (p.Leu828Gln)	Schuurs-Hoeijmakers syndrome [RCV005176718]	uncertain significance	11	66241480	66241480	Human	1	name
597961610	CV3840789	single nucleotide variant	NM_018026.4(PACS1):c.2197C>T (p.Arg733Trp)	Schuurs-Hoeijmakers syndrome [RCV005193082]	uncertain significance	11	66235393	66235393	Human	1	name
597946731	CV3841726	single nucleotide variant	NM_018026.4(PACS1):c.2444C>T (p.Pro815Leu)	Schuurs-Hoeijmakers syndrome [RCV005189160]	uncertain significance	11	66241441	66241441	Human	1	name
597953052	CV3843891	single nucleotide variant	NM_018026.4(PACS1):c.1224G>T (p.Gln408His)	Schuurs-Hoeijmakers syndrome [RCV005190753]	uncertain significance	11	66221178	66221178	Human	1	name
597932864	CV3844567	single nucleotide variant	NM_018026.4(PACS1):c.1547G>A (p.Arg516Gln)	Schuurs-Hoeijmakers syndrome [RCV005186074]	uncertain significance	11	66230861	66230861	Human	1	name
597948291	CV3852467	single nucleotide variant	NM_018026.4(PACS1):c.1813G>A (p.Ala605Thr)	Schuurs-Hoeijmakers syndrome [RCV005189545]	uncertain significance	11	66233041	66233041	Human	1	name
597891968	CV3856628	single nucleotide variant	NM_018026.4(PACS1):c.1384G>A (p.Asp462Asn)	Schuurs-Hoeijmakers syndrome [RCV005200694]	uncertain significance	11	66230557	66230557	Human	1	name
597918584	CV3861568	single nucleotide variant	NM_018026.4(PACS1):c.1619G>T (p.Ser540Ile)	Schuurs-Hoeijmakers syndrome [RCV005204724]	uncertain significance	11	66230933	66230933	Human	1	name
598125263	CV3883899	single nucleotide variant	NM_018026.4(PACS1):c.2039A>G (p.Tyr680Cys)	not provided [RCV005236254]	uncertain significance	11	66234177	66234177	Human		name
598127456	CV3888194	single nucleotide variant	NM_018026.4(PACS1):c.1331G>A (p.Trp444Ter)	not provided [RCV005242880]	uncertain significance	11	66227541	66227541	Human		name
598200309	CV3892643	single nucleotide variant	NM_018026.4(PACS1):c.2798G>A (p.Trp933Ter)	not provided [RCV005254476]	uncertain significance	11	66243186	66243186	Human		name
598163919	CV3995964	single nucleotide variant	NM_018026.4(PACS1):c.2359G>A (p.Gly787Ser)	Inborn genetic diseases [RCV005391071]	uncertain significance	11	66239207	66239207	Human	1	name
598163927	CV3995967	single nucleotide variant	NM_018026.4(PACS1):c.2095C>G (p.Pro699Ala)	Inborn genetic diseases [RCV005391073]	uncertain significance	11	66234233	66234233	Human	1	name
617149271	CV4017378	single nucleotide variant	NM_018026.4(PACS1):c.1986C>G (p.Ile662Met)	not provided [RCV005417036]	uncertain significance	11	66233932	66233932	Human		name
617150496	CV4017633	single nucleotide variant	NM_018026.4(PACS1):c.2560C>T (p.Arg854Cys)	not provided [RCV005417291]	uncertain significance	11	66241557	66241557	Human		name
617151096	CV4021875	single nucleotide variant	NM_018026.4(PACS1):c.2233T>C (p.Phe745Leu)	not provided [RCV005426836]	uncertain significance	11	66235923	66235923	Human		name
617154124	CV4022287	single nucleotide variant	NM_018026.4(PACS1):c.1694A>G (p.Asn565Ser)	not provided [RCV005429643]	uncertain significance	11	66232239	66232239	Human		name
13216351	CV429273	single nucleotide variant	NM_018026.4(PACS1):c.1927G>T (p.Val643Phe)	not provided [RCV000767155]\|not specified [RCV000503498]	uncertain significance	11	66233873	66233873	Human		name
13486694	CV461567	single nucleotide variant	NM_018026.4(PACS1):c.2527G>A (p.Ala843Thr)	Schuurs-Hoeijmakers syndrome [RCV000553865]\|not provided [RCV003403326]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	66241524	66241524	Human	1	name
13627235	CV535320	single nucleotide variant	NM_018026.4(PACS1):c.1862C>T (p.Pro621Leu)	Schuurs-Hoeijmakers syndrome [RCV002534242]\|not provided [RCV000656309]	uncertain significance	11	66233808	66233808	Human	1	name
13828577	CV579738	single nucleotide variant	NM_018026.4(PACS1):c.1969A>C (p.Met657Leu)	Inborn genetic diseases [RCV002312747]\|PACS1-related disorder [RCV003907985]\|Schuurs-Hoeijmakers syndrome [RCV000951764]\|not provided [RCV001655571]	benign\|likely benign	11	66233915	66233915	Human	2	name , trait , alternate_id
13828735	CV579768	single nucleotide variant	NM_018026.4(PACS1):c.1457G>A (p.Ser486Asn)	Inborn genetic diseases [RCV002316026]\|Schuurs-Hoeijmakers syndrome [RCV002534539]\|not provided [RCV001552799]	benign\|likely benign	11	66230630	66230630	Human	2	name
13830048	CV579769	single nucleotide variant	NM_018026.4(PACS1):c.1504G>A (p.Val502Met)	Inborn genetic diseases [RCV002318840]\|Schuurs-Hoeijmakers syndrome [RCV002534942]	uncertain significance	11	66230818	66230818	Human	2	name
13829469	CV579771	single nucleotide variant	NM_018026.4(PACS1):c.1594G>A (p.Glu532Lys)	Inborn genetic diseases [RCV002315320]	uncertain significance	11	66230908	66230908	Human	1	name
13829409	CV579965	single nucleotide variant	NM_018026.4(PACS1):c.1319T>A (p.Ile440Asn)	Inborn genetic diseases [RCV002315268]\|Schuurs-Hoeijmakers syndrome [RCV005092080]	uncertain significance	11	66227529	66227529	Human	2	name
14396751	CV612919	single nucleotide variant	NM_018026.4(PACS1):c.1098G>C (p.Leu366Phe)	Schuurs-Hoeijmakers syndrome [RCV002533879]\|not provided [RCV000761781]	likely benign\|uncertain significance	11	66220690	66220690	Human	1	name
14746840	CV672082	single nucleotide variant	NM_018026.4(PACS1):c.1069G>A (p.Glu357Lys)	Aganglionic megacolon [RCV000984692]\|Schuurs-Hoeijmakers syndrome [RCV000845089]	likely benign\|uncertain significance\|not provided	11	66220661	66220661	Human	3	name
15203409	CV752833	single nucleotide variant	NM_018026.4(PACS1):c.2198G>A (p.Arg733Gln)	Inborn genetic diseases [RCV002416130]\|PACS1-related disorder [RCV003970401]\|Schuurs-Hoeijmakers syndrome [RCV002540867]\|not provided [RCV000913960]	benign\|likely benign	11	66235394	66235394	Human	2	name , trait , alternate_id
8634299	CV89519	single nucleotide variant	NM_018026.3(PACS1):c.2386C>T (p.Pro796Ser)	Malignant melanoma [RCV000069616]	not provided	11	66239234	66239234	Human		name
34895562	CV917092	single nucleotide variant	NM_018026.4(PACS1):c.1339A>T (p.Asn447Tyr)	not specified [RCV001192672]	uncertain significance	11	66227549	66227549	Human		name
38596651	CV963729	single nucleotide variant	NM_018026.4(PACS1):c.1341C>A (p.Asn447Lys)	Intellectual disability [RCV001252091]	likely benign	11	66227551	66227551	Human	2	name
38596653	CV963730	single nucleotide variant	NM_018026.4(PACS1):c.2369G>A (p.Arg790Gln)	Intellectual disability [RCV001252093]\|Schuurs-Hoeijmakers syndrome [RCV003652116]	benign\|likely benign	11	66239217	66239217	Human	3	name
38596652	CV963731	single nucleotide variant	NM_018026.4(PACS1):c.2404A>G (p.Met802Val)	Inborn genetic diseases [RCV004035313]\|Intellectual disability [RCV001252092]\|Schuurs-Hoeijmakers syndrome [RCV002570489]	benign\|likely benign\|uncertain significance	11	66239252	66239252	Human	4	name
405290904	CV3197217	microsatellite	NM_018026.4(PACS1):c.104AGC[5] (p.Gln40del)	PACS1-related disorder [RCV003984780]	likely benign	11	66070588	66070590	Human		name , trait , alternate_id
152102682	CV1579082	indel	NM_018026.4(PACS1):c.1199+10_1199+11delinsAG	Schuurs-Hoeijmakers syndrome [RCV002079195]	likely benign	11	66220801	66220802	Human		name
150420414	CV1194524	insertion	NM_018026.4(PACS1):c.661-167_661-166insTAAAAA	not provided [RCV001570108]	likely benign	11	66215950	66215951	Human		name
405148896	CV2923530	deletion	NM_018026.4(PACS1):c.524_526del (p.Phe175del)	Schuurs-Hoeijmakers syndrome [RCV003538228]	uncertain significance	11	66210439	66210441	Human	1	name
156311476	CV1874417	insertion	NM_018026.4(PACS1):c.1839-15_1839-14insAGGGGTG	Schuurs-Hoeijmakers syndrome [RCV003062477]	likely benign	11	66233770	66233771	Human	1	name
156296032	CV2179469	deletion	NM_018026.4(PACS1):c.1644_1648del (p.Tyr549fs)	Schuurs-Hoeijmakers syndrome [RCV003027877]	uncertain significance	11	66232189	66232193	Human	1	name
329350706	CV2421741	deletion	NM_018026.4(PACS1):c.2518_2519del (p.Lys840fs)	not provided [RCV003159444]	uncertain significance	11	66241515	66241516	Human		name
408369964	CV3502925	deletion	NM_018026.4(PACS1):c.2864_2876del (p.Gly955fs)	not provided [RCV004724046]	uncertain significance	11	66243246	66243258	Human		name
156311445	CV1874415	insertion	NM_018026.4(PACS1):c.1839-18_1839-17insTGGGCAGTG	Schuurs-Hoeijmakers syndrome [RCV003062475]	uncertain significance	11	66233766	66233767	Human	1	name
150338408	CV1174157	microsatellite	NM_018026.4(PACS1):c.104AGC[9] (p.Gln38_Gln40dup)	Inborn genetic diseases [RCV004952972]\|Schuurs-Hoeijmakers syndrome [RCV001542327]\|not provided [RCV001732203]	likely benign\|uncertain significance	11	66070587	66070588	Human		name
405083266	CV2896050	microsatellite	NM_018026.4(PACS1):c.104AGC[3] (p.Gln38_Gln40del)	Schuurs-Hoeijmakers syndrome [RCV003535358]	uncertain significance	11	66070588	66070596	Human		name
150495333	CV1225051	duplication	NM_018026.4(PACS1):c.110_133dup (p.Gln37_Gln44dup)	Inborn genetic diseases [RCV002425016]\|PACS1-related disorder [RCV003931250]\|Schuurs-Hoeijmakers syndrome [RCV002501978]\|not provided [RCV001619529]\|not specified [RCV001821934]	benign\|likely benign	11	66070581	66070582	Human	2	name , trait , alternate_id
150431552	CV1235484	deletion	NM_018026.4(PACS1):c.246_251del (p.Gly83_Ser84del)	Inborn genetic diseases [RCV002458556]\|not provided [RCV001641854]	benign	11	66070729	66070734	Human	1	name
156330470	CV2227022	deletion	NM_018026.4(PACS1):c.110_133del (p.Gln37_Gln44del)	Inborn genetic diseases [RCV002717928]	likely benign	11	66070582	66070605	Human	1	name
156362433	CV2265527	deletion	NM_018026.4(PACS1):c.124_135del (p.Pro42_Pro45del)	Inborn genetic diseases [RCV002813025]	likely benign	11	66070600	66070611	Human	1	name
405261025	CV3215545	deletion	NM_018026.4(PACS1):c.101_127del (p.Pro34_Pro42del)	PACS1-related disorder [RCV003944279]	uncertain significance	11	66070574	66070600	Human		name , trait , alternate_id
155740490	CV1809423	microsatellite	NM_018026.4(PACS1):c.104AGC[7] (p.Gln40_Pro41insGln)	Inborn genetic diseases [RCV002342993]	benign	11	66070587	66070588	Human		name
156093636	CV2030756	deletion	NM_018026.4(PACS1):c.1448_1456del (p.Met483_Ser485del)	Schuurs-Hoeijmakers syndrome [RCV002761041]	uncertain significance	11	66230618	66230626	Human	1	name
156231659	CV2156937	deletion	NM_018026.4(PACS1):c.2353_2373del (p.Ser785_Asp791del)	Schuurs-Hoeijmakers syndrome [RCV003025667]	uncertain significance	11	66239200	66239220	Human	1	name
401798117	CV2739219	deletion	NM_018026.4(PACS1):c.1643_1648del (p.Val548_Tyr549del)	Schuurs-Hoeijmakers syndrome [RCV003649446]\|not provided [RCV003318867]	uncertain significance	11	66232187	66232192	Human	1	name
156344473	CV2051761	duplication	NM_018026.4(PACS1):c.957_959dup (p.Ser320_Thr321insSer)	Schuurs-Hoeijmakers syndrome [RCV002811381]	uncertain significance	11	66216752	66216753	Human	1	name
407429800	CV3414263	microsatellite	NM_018026.4(PACS1):c.838GAAGAG[3] (p.Glu283_Ser284insGluGlu)	Schuurs-Hoeijmakers syndrome [RCV004595845]	uncertain significance	11	66216548	66216549	Human		name
156143312	CV2134216	insertion	NM_018026.4(PACS1):c.2888_2889insTGTCTC (p.Thr963_Ter964insValSer)	Schuurs-Hoeijmakers syndrome [RCV002982393]	likely benign\|uncertain significance	11	66243275	66243276	Human	1	name
155794464	CV1858588	insertion	NM_018026.4(PACS1):c.2430-649_2430-648insCTTTCTTTGGTTTGTTTTTGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGGAAGTGCAGTGGCGGCGATCTCGGGCTCACTGCAAGCTCCGCCTCCCGGGTGTTCACGCCATTCTCCGCCTCAGCCATCCAAAGTAGAGCGGACTAAGGCGCCGCCACTACGCCCGAGCTAATTTTTTTGTATTTTTAGTTAGAGACGGG ... (more) GTTTCACCGTTTTAGCCGGGATGGTCTCGATACTCCTGACTCGTGATCCGCCCGCCTGCCTCCCAAAGTGCTGGAGGATTTACAGCGGGCCACCGCTGCCCGGCCTAA	Schizophrenia [RCV002463550]	uncertain significance	11	66240778	66240779	Human	2	name

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