Setbp1 Variant Search Result - Rat Genome Database

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1003 records found for search term Setbp1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150433437	CV1204082	single nucleotide variant	NM_015559.3(SETBP1):c.*2G>A	not provided [RCV001581830]	likely benign	18	45063700	45063700	Human		name
405290622	CV3207589	single nucleotide variant	NM_015559.3(SETBP1):c.*4G>A	SETBP1-related disorder [RCV004532041]	likely benign	18	45063702	45063702	Human		name , trait , alternate_id
11647105	CV341593	single nucleotide variant	NM_015559.3(SETBP1):c.-36C>T	Schinzel-Giedion syndrome [RCV000274723]	uncertain significance	18	44701311	44701311	Human		name
11629713	CV348252	single nucleotide variant	NM_015559.3(SETBP1):c.-21C>T	Schinzel-Giedion syndrome [RCV000331975]	uncertain significance	18	44701326	44701326	Human		name
11644754	CV331271	duplication	NM_015559.3(SETBP1):c.-241dup	Schinzel-Giedion syndrome [RCV000261789]\|not provided [RCV002274982]	benign\|likely benign\|uncertain significance	18	44680945	44680946	Human	1	name
11663286	CV331301	single nucleotide variant	NM_015559.3(SETBP1):c.*205C>G	Schinzel-Giedion syndrome [RCV000394194]	uncertain significance	18	45063903	45063903	Human		name
11652293	CV331302	single nucleotide variant	NM_015559.3(SETBP1):c.*339C>G	Schinzel-Giedion syndrome [RCV000304214]	uncertain significance	18	45064037	45064037	Human		name
11621984	CV341587	single nucleotide variant	NM_015559.3(SETBP1):c.-293T>C	Schinzel-Giedion syndrome [RCV000354919]	uncertain significance	18	44680901	44680901	Human		name
11622982	CV341592	single nucleotide variant	NM_015559.3(SETBP1):c.-164C>G	not provided [RCV003326985]	likely benign	18	44701183	44701183	Human		name
11651329	CV341632	single nucleotide variant	NM_015559.3(SETBP1):c.*750G>T	Schinzel-Giedion syndrome [RCV000298473]	uncertain significance	18	45064448	45064448	Human		name
11629246	CV347011	single nucleotide variant	NM_015559.3(SETBP1):c.-248G>T	not provided [RCV003312413]	benign\|likely benign	18	44680946	44680946	Human		name
11659773	CV347031	single nucleotide variant	NM_015559.3(SETBP1):c.*456C>A	Schinzel-Giedion syndrome [RCV000361287]	uncertain significance	18	45064154	45064154	Human		name
11644342	CV348305	duplication	NM_015559.3(SETBP1):c.*745dup	Schinzel-Giedion syndrome [RCV000259690]	uncertain significance	18	45064433	45064434	Human	1	name
11630679	CV348306	single nucleotide variant	NM_015559.3(SETBP1):c.*813C>G	Schinzel-Giedion syndrome [RCV000355766]	benign	18	45064511	45064511	Human		name
11645022	CV348309	single nucleotide variant	NM_015559.3(SETBP1):c.*919A>G	Schinzel-Giedion syndrome [RCV000263303]	uncertain significance	18	45064617	45064617	Human		name
150534373	CV1301935	single nucleotide variant	NM_015559.3(SETBP1):c.487-2A>G	not provided [RCV001757152]	uncertain significance	18	44869228	44869228	Human		name
151812027	CV1417547	single nucleotide variant	NM_015559.3(SETBP1):c.486+1G>T	not provided [RCV002029064]	likely pathogenic	18	44701833	44701833	Human		name
152108834	CV1604027	single nucleotide variant	NM_015559.3(SETBP1):c.541-8A>G	not provided [RCV002079969]	likely benign	18	44949873	44949873	Human		name
152083803	CV1645548	single nucleotide variant	NM_015559.3(SETBP1):c.486+8G>A	not provided [RCV002170891]	likely benign	18	44701840	44701840	Human		name
152066364	CV1662348	single nucleotide variant	NM_015559.3(SETBP1):c.541-6C>T	not provided [RCV002090974]	likely benign	18	44949875	44949875	Human		name
156402372	CV1889333	single nucleotide variant	NM_015559.3(SETBP1):c.541-9C>T	not provided [RCV003069286]	likely benign	18	44949872	44949872	Human		name
156446441	CV1937917	single nucleotide variant	NM_015559.3(SETBP1):c.540+7T>C	not provided [RCV003117946]	likely benign	18	44869290	44869290	Human		name
156268060	CV2026730	single nucleotide variant	NM_015559.3(SETBP1):c.541-7C>T	not provided [RCV002746542]	likely benign	18	44949874	44949874	Human		name
156095105	CV2050825	single nucleotide variant	NM_015559.3(SETBP1):c.486+1G>A	not provided [RCV002824337]	likely pathogenic	18	44701833	44701833	Human		name
405043668	CV2862981	duplication	NM_015559.3(SETBP1):c.540+2dup	not provided [RCV003579236]	uncertain significance	18	44869284	44869285	Human		name
405115320	CV2953137	single nucleotide variant	NM_015559.3(SETBP1):c.540+9C>T	not provided [RCV003666855]	likely benign	18	44869292	44869292	Human		name
404982907	CV3184261	single nucleotide variant	NM_015559.3(SETBP1):c.487-4G>A	not provided [RCV003880753]	likely benign	18	44869226	44869226	Human		name
11660590	CV331306	deletion	NM_015559.3(SETBP1):c.*1160del	Schinzel-Giedion syndrome [RCV000368539]	likely benign	18	45064856	45064856	Human	1	name
11655386	CV331307	single nucleotide variant	NM_015559.3(SETBP1):c.*1338C>A	Schinzel-Giedion syndrome [RCV000325336]	uncertain significance	18	45065036	45065036	Human		name
11616491	CV331313	single nucleotide variant	NM_015559.3(SETBP1):c.*1533T>C	Schinzel-Giedion syndrome [RCV000294890]	likely benign	18	45065231	45065231	Human		name
11657567	CV331320	single nucleotide variant	NM_015559.3(SETBP1):c.*2244C>T	Schinzel-Giedion syndrome [RCV000342388]	uncertain significance	18	45065942	45065942	Human		name
11625934	CV331324	single nucleotide variant	NM_015559.3(SETBP1):c.*2259A>T	Schinzel-Giedion syndrome [RCV000404957]	likely benign	18	45065957	45065957	Human		name
11617266	CV331326	single nucleotide variant	NM_015559.3(SETBP1):c.*2405T>C	Schinzel-Giedion syndrome [RCV000302901]	likely benign	18	45066103	45066103	Human		name
11663564	CV331334	single nucleotide variant	NM_015559.3(SETBP1):c.*2437C>T	Schinzel-Giedion syndrome [RCV000397200]	uncertain significance	18	45066135	45066135	Human		name
11620081	CV331341	single nucleotide variant	NM_015559.3(SETBP1):c.*2900A>G	Schinzel-Giedion syndrome [RCV000332973]	uncertain significance	18	45066598	45066598	Human		name
11661193	CV331351	deletion	NM_015559.3(SETBP1):c.*2971del	Schinzel-Giedion syndrome [RCV000374316]	uncertain significance	18	45066669	45066669	Human	1	name
11650237	CV331353	single nucleotide variant	NM_015559.3(SETBP1):c.*3403C>T	Schinzel-Giedion syndrome [RCV000291922]	uncertain significance	18	45067101	45067101	Human		name
11621222	CV331355	single nucleotide variant	NM_015559.3(SETBP1):c.*3434T>C	Schinzel-Giedion syndrome [RCV000346066]	likely benign	18	45067132	45067132	Human		name
11618293	CV331358	single nucleotide variant	NM_015559.3(SETBP1):c.*3829C>T	Schinzel-Giedion syndrome [RCV000312327]	likely benign	18	45067527	45067527	Human		name
11616969	CV331365	single nucleotide variant	NM_015559.3(SETBP1):c.*3884T>G	Schinzel-Giedion syndrome [RCV000299578]	likely benign	18	45067582	45067582	Human		name
11661665	CV331371	single nucleotide variant	NM_015559.3(SETBP1):c.*4205C>T	Schinzel-Giedion syndrome [RCV000378846]	uncertain significance	18	45067903	45067903	Human		name
11662758	CV331374	single nucleotide variant	NM_015559.3(SETBP1):c.*4648C>G	Schinzel-Giedion syndrome [RCV000389267]	uncertain significance	18	45068346	45068346	Human		name
11656022	CV341633	single nucleotide variant	NM_015559.3(SETBP1):c.*1068G>C	Schinzel-Giedion syndrome [RCV000330170]	uncertain significance	18	45064766	45064766	Human		name
11662748	CV341637	single nucleotide variant	NM_015559.3(SETBP1):c.*1377G>A	Schinzel-Giedion syndrome [RCV000389213]	uncertain significance	18	45065075	45065075	Human	1	name
11614575	CV341645	single nucleotide variant	NM_015559.3(SETBP1):c.*2188G>A	Schinzel-Giedion syndrome [RCV000278293]	uncertain significance	18	45065886	45065886	Human		name
11617881	CV341647	single nucleotide variant	NM_015559.3(SETBP1):c.*2688A>G	Schinzel-Giedion syndrome [RCV000308425]	likely benign	18	45066386	45066386	Human		name
11614562	CV341648	single nucleotide variant	NM_015559.3(SETBP1):c.*2884C>T	Schinzel-Giedion syndrome [RCV000277837]	likely benign	18	45066582	45066582	Human		name
11614103	CV341650	deletion	NM_015559.3(SETBP1):c.*2966del	Schinzel-Giedion syndrome [RCV000274457]	benign	18	45066660	45066660	Human		name
11626178	CV341652	single nucleotide variant	NM_015559.3(SETBP1):c.*3313A>C	Schinzel-Giedion syndrome [RCV000408249]	likely benign	18	45067011	45067011	Human	1	name
11664330	CV341655	single nucleotide variant	NM_015559.3(SETBP1):c.*3459G>A	Schinzel-Giedion syndrome [RCV000404852]	uncertain significance	18	45067157	45067157	Human		name
11625152	CV341656	single nucleotide variant	NM_015559.3(SETBP1):c.*3676C>T	Schinzel-Giedion syndrome [RCV000395105]	likely benign	18	45067374	45067374	Human		name
11662279	CV341663	duplication	NM_015559.3(SETBP1):c.*4266dup	Schinzel-Giedion syndrome [RCV000384688]	likely benign	18	45067956	45067957	Human		name
11626788	CV347032	single nucleotide variant	NM_015559.3(SETBP1):c.*1163G>A	Schinzel-Giedion syndrome [RCV000270316]	likely benign	18	45064861	45064861	Human		name
11629948	CV347033	single nucleotide variant	NM_015559.3(SETBP1):c.*1817A>G	Schinzel-Giedion syndrome [RCV000336746]	likely benign	18	45065515	45065515	Human		name
11630917	CV347036	single nucleotide variant	NM_015559.3(SETBP1):c.*2791A>G	Schinzel-Giedion syndrome [RCV000362994]	likely benign	18	45066489	45066489	Human		name
11631119	CV347039	single nucleotide variant	NM_015559.3(SETBP1):c.*2901A>C	Schinzel-Giedion syndrome [RCV000368948]	benign	18	45066599	45066599	Human		name
11629173	CV347040	deletion	NM_015559.3(SETBP1):c.*2987del	Schinzel-Giedion syndrome [RCV000316690]	benign	18	45066670	45066670	Human		name
11661837	CV347041	deletion	NM_015559.3(SETBP1):c.*2988del	Schinzel-Giedion syndrome [RCV000380534]	uncertain significance	18	45066686	45066686	Human	1	name
11627824	CV347044	single nucleotide variant	NM_015559.3(SETBP1):c.*4259A>T	Schinzel-Giedion syndrome [RCV000289148]	likely benign	18	45067957	45067957	Human		name
11630208	CV347046	single nucleotide variant	NM_015559.3(SETBP1):c.*4510T>C	Schinzel-Giedion syndrome [RCV000344099]	likely benign	18	45068208	45068208	Human		name
11629715	CV348312	single nucleotide variant	NM_015559.3(SETBP1):c.*1536G>T	Schinzel-Giedion syndrome [RCV000331075]	uncertain significance	18	45065234	45065234	Human		name
11662375	CV348313	single nucleotide variant	NM_015559.3(SETBP1):c.*1549A>G	Schinzel-Giedion syndrome [RCV000385606]	uncertain significance	18	45065247	45065247	Human		name
11630722	CV348319	single nucleotide variant	NM_015559.3(SETBP1):c.*2414C>G	Schinzel-Giedion syndrome [RCV000357680]	likely benign	18	45066112	45066112	Human		name
11648099	CV348326	duplication	NM_015559.3(SETBP1):c.*2987dup	Schinzel-Giedion syndrome [RCV000280292]\|not provided [RCV004694397]	uncertain significance	18	45066669	45066670	Human	1	name
11627668	CV348328	single nucleotide variant	NM_015559.3(SETBP1):c.*3179G>A	Schinzel-Giedion syndrome [RCV000286057]	likely benign	18	45066877	45066877	Human		name
11630128	CV348330	single nucleotide variant	NM_015559.3(SETBP1):c.*3288C>G	Schinzel-Giedion syndrome [RCV000341053]	likely benign	18	45066986	45066986	Human		name
11652656	CV348340	single nucleotide variant	NM_015559.3(SETBP1):c.*3540G>A	Schinzel-Giedion syndrome [RCV000306454]	uncertain significance	18	45067238	45067238	Human		name
11631182	CV348342	single nucleotide variant	NM_015559.3(SETBP1):c.*3573G>A	Schinzel-Giedion syndrome [RCV000370495]	likely benign	18	45067271	45067271	Human		name
11631043	CV348344	single nucleotide variant	NM_015559.3(SETBP1):c.*3833C>G	Schinzel-Giedion syndrome [RCV000366960]	likely benign	18	45067531	45067531	Human		name
11626375	CV348345	single nucleotide variant	NM_015559.3(SETBP1):c.*3839A>T	Schinzel-Giedion syndrome [RCV000262938]	likely benign	18	45067537	45067537	Human		name
11630637	CV348346	single nucleotide variant	NM_015559.3(SETBP1):c.*4010C>T	Schinzel-Giedion syndrome [RCV000354461]	likely benign	18	45067708	45067708	Human		name
11644328	CV348347	single nucleotide variant	NM_015559.3(SETBP1):c.*4100G>A	Schinzel-Giedion syndrome [RCV000259614]	uncertain significance	18	45067798	45067798	Human		name
11655202	CV348350	single nucleotide variant	NM_015559.3(SETBP1):c.*4204A>G	Schinzel-Giedion syndrome [RCV000324170]	uncertain significance	18	45067902	45067902	Human		name
11626523	CV348356	single nucleotide variant	NM_015559.3(SETBP1):c.*4237C>A	Schinzel-Giedion syndrome [RCV000265629]	likely benign	18	45067935	45067935	Human		name
11629316	CV348357	single nucleotide variant	NM_015559.3(SETBP1):c.*4240T>C	Schinzel-Giedion syndrome [RCV000320765]	likely benign	18	45067938	45067938	Human		name
11650751	CV348361	deletion	NM_015559.3(SETBP1):c.*4753del	Schinzel-Giedion syndrome [RCV000294967]	benign	18	45068441	45068441	Human	1	name
597914284	CV3740616	single nucleotide variant	NM_015559.3(SETBP1):c.486+3A>G	not provided [RCV005073953]	uncertain significance	18	44701835	44701835	Human		name
597861575	CV3880915	single nucleotide variant	NM_015559.3(SETBP1):c.540+1G>A	Schinzel-Giedion syndrome [RCV005229743]	uncertain significance	18	44869284	44869284	Human	1	name
12914022	CV422220	single nucleotide variant	NM_015559.3(SETBP1):c.487-1G>A	Intellectual disability, autosomal dominant 29 [RCV001706646]\|not provided [RCV000494550]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	18	44869229	44869229	Human	1	name
150488215	CV1208218	single nucleotide variant	NM_015559.3(SETBP1):c.540+25A>C	not provided [RCV001592078]	likely benign	18	44869308	44869308	Human		name
150506536	CV1242238	single nucleotide variant	NM_015559.3(SETBP1):c.540+57G>A	not provided [RCV001658592]	benign	18	44869340	44869340	Human		name
151754431	CV1405614	single nucleotide variant	NM_015559.3(SETBP1):c.4000+6G>A	not provided [RCV001927843]	benign\|uncertain significance	18	44953346	44953346	Human		name
152083651	CV1525360	deletion	NM_015559.3(SETBP1):c.487-13del	not provided [RCV002131150]	likely benign	18	44869215	44869215	Human		name
152065656	CV1539808	single nucleotide variant	NM_015559.3(SETBP1):c.4000+9G>A	not provided [RCV002147388]	likely benign	18	44953349	44953349	Human		name
152130571	CV1582347	single nucleotide variant	NM_015559.3(SETBP1):c.486+20G>T	not provided [RCV002099429]	likely benign	18	44701852	44701852	Human		name
152063342	CV1594666	single nucleotide variant	NM_015559.3(SETBP1):c.487-16C>A	not provided [RCV002110402]	likely benign	18	44869214	44869214	Human		name
152098007	CV1611635	single nucleotide variant	NM_015559.3(SETBP1):c.540+17C>T	not provided [RCV002172726]	likely benign	18	44869300	44869300	Human		name
152134117	CV1613303	duplication	NM_015559.3(SETBP1):c.4172-9dup	not provided [RCV002155921]	benign	18	45063066	45063067	Human		name
152041907	CV1624151	single nucleotide variant	NM_015559.3(SETBP1):c.4001-6T>C	not provided [RCV002126201]	likely benign	18	45038479	45038479	Human		name
152122720	CV1632045	single nucleotide variant	NM_015559.3(SETBP1):c.4172-5C>G	not provided [RCV002118051]	benign	18	45063074	45063074	Human		name
152102010	CV1645957	single nucleotide variant	NM_015559.3(SETBP1):c.541-10C>T	SETBP1-related disorder [RCV004538791]\|not provided [RCV002173225]	benign\|likely benign	18	44949871	44949871	Human	1	name , alternate_id
152059983	CV1659397	single nucleotide variant	NM_015559.3(SETBP1):c.4172-7C>T	not provided [RCV002073557]	likely benign	18	45063072	45063072	Human		name
156412755	CV1904578	single nucleotide variant	NM_015559.3(SETBP1):c.4172-4G>A	not provided [RCV002587933]	likely benign	18	45063075	45063075	Human		name
156284124	CV1964507	single nucleotide variant	NM_015559.3(SETBP1):c.4172-9C>T	not provided [RCV002577576]	likely benign	18	45063070	45063070	Human		name
156188270	CV2086640	single nucleotide variant	NM_015559.3(SETBP1):c.487-12A>C	not provided [RCV002852053]	likely benign	18	44869218	44869218	Human		name
156332415	CV2094909	single nucleotide variant	NM_015559.3(SETBP1):c.486+14T>C	not provided [RCV002900007]	likely benign	18	44701846	44701846	Human		name
156336424	CV2099613	single nucleotide variant	NM_015559.3(SETBP1):c.4172-9C>A	not provided [RCV002900227]	likely benign	18	45063070	45063070	Human		name
156313344	CV2107725	single nucleotide variant	NM_015559.3(SETBP1):c.541-14C>T	not provided [RCV002937300]	likely benign	18	44949867	44949867	Human		name
405189602	CV2987888	single nucleotide variant	NM_015559.3(SETBP1):c.4172-5C>A	not provided [RCV003706345]	uncertain significance	18	45063074	45063074	Human		name
402516832	CV3003217	single nucleotide variant	NM_015559.3(SETBP1):c.4171+7A>G	not provided [RCV003716133]	likely benign	18	45038662	45038662	Human		name
402517274	CV3003263	single nucleotide variant	NM_015559.3(SETBP1):c.541-11C>A	not provided [RCV003716167]	likely benign	18	44949870	44949870	Human		name
405113461	CV3133747	single nucleotide variant	NM_015559.3(SETBP1):c.540+12T>C	not provided [RCV003836541]	likely benign	18	44869295	44869295	Human		name
405214424	CV3143063	single nucleotide variant	NM_015559.3(SETBP1):c.4172-5C>T	not provided [RCV003846226]	likely benign	18	45063074	45063074	Human		name
408381633	CV3523928	single nucleotide variant	NM_015559.3(SETBP1):c.487-13T>C	not provided [RCV004766326]	uncertain significance	18	44869217	44869217	Human		name
13445637	CV438070	single nucleotide variant	NM_015559.3(SETBP1):c.4001-7T>A	not provided [RCV000512662]	conflicting interpretations of pathogenicity\|uncertain significance	18	45038478	45038478	Human		name
40886545	CV974127	single nucleotide variant	NM_015559.3(SETBP1):c.4000+2T>G	Inborn genetic diseases [RCV001265680]	likely pathogenic	18	44953342	44953342	Human	1	name
150405828	CV1192049	single nucleotide variant	NM_015559.3(SETBP1):c.486+330A>G	not provided [RCV001564463]	likely benign	18	44702162	44702162	Human		name
150487675	CV1262779	single nucleotide variant	NM_015559.3(SETBP1):c.486+200C>T	not provided [RCV001687177]	benign	18	44702032	44702032	Human		name
152161684	CV1534821	single nucleotide variant	NM_015559.3(SETBP1):c.4171+11T>G	not provided [RCV002141026]	likely benign	18	45038666	45038666	Human		name
152121483	CV1547582	single nucleotide variant	NM_015559.3(SETBP1):c.4171+14A>G	not provided [RCV002081611]	likely benign	18	45038669	45038669	Human		name
152139384	CV1562809	single nucleotide variant	NM_015559.3(SETBP1):c.4171+19C>A	not provided [RCV002100558]	likely benign	18	45038674	45038674	Human		name
9683784	CV169431	single nucleotide variant	NM_015559.3(SETBP1):c.4000+10T>A	Schinzel-Giedion syndrome [RCV003315934]\|not provided [RCV000713191]\|not specified [RCV000147464]	benign	18	44953350	44953350	Human	1	name
156032205	CV1910896	single nucleotide variant	NM_015559.3(SETBP1):c.4001-13T>C	not provided [RCV002619901]	likely benign	18	45038472	45038472	Human		name
156155184	CV1926144	single nucleotide variant	NM_015559.3(SETBP1):c.4172-17C>T	not provided [RCV002624152]	likely benign	18	45063062	45063062	Human		name
156398194	CV1990827	single nucleotide variant	NM_015559.3(SETBP1):c.4000+16T>A	not provided [RCV002605347]	likely benign	18	44953356	44953356	Human		name
156323263	CV2022332	single nucleotide variant	NM_015559.3(SETBP1):c.4001-15G>A	not provided [RCV002717235]	likely benign	18	45038470	45038470	Human		name
155994511	CV2059998	single nucleotide variant	NM_015559.3(SETBP1):c.4001-10T>A	not provided [RCV002819358]	likely benign	18	45038475	45038475	Human		name
156353927	CV2190662	single nucleotide variant	NM_015559.3(SETBP1):c.4171+15G>A	not provided [RCV003048539]	likely benign	18	45038670	45038670	Human		name
405208442	CV2870542	single nucleotide variant	NM_015559.3(SETBP1):c.4172-19A>G	not provided [RCV003552250]	likely benign	18	45063060	45063060	Human		name
405154602	CV3135195	deletion	NM_015559.3(SETBP1):c.4171+22del	not provided [RCV003840307]	likely benign	18	45038675	45038675	Human		name
597836532	CV3766186	single nucleotide variant	NM_015559.3(SETBP1):c.4172-15C>T	not provided [RCV005108318]	likely benign	18	45063064	45063064	Human		name
597843127	CV3772797	single nucleotide variant	NM_015559.3(SETBP1):c.4171+16A>T	not provided [RCV005118427]	likely benign	18	45038671	45038671	Human		name
150416257	CV1181634	single nucleotide variant	NM_015559.3(SETBP1):c.4171+136G>A	not provided [RCV001549523]	likely benign	18	45038791	45038791	Human		name
150415143	CV1192054	single nucleotide variant	NM_015559.3(SETBP1):c.4001-241C>T	not provided [RCV001567853]	likely benign	18	45038244	45038244	Human		name
150420048	CV1195313	single nucleotide variant	NM_015559.3(SETBP1):c.540+7656G>A	not provided [RCV001569947]	likely benign	18	44876939	44876939	Human		name
150414776	CV1199028	deletion	NM_015559.3(SETBP1):c.-172-130del	not provided [RCV001575109]	likely benign	18	44701045	44701045	Human		name
150495933	CV1205940	single nucleotide variant	NM_015559.3(SETBP1):c.4172-131C>T	not provided [RCV001593622]	likely benign	18	45062948	45062948	Human		name
150469560	CV1209169	single nucleotide variant	NM_015559.3(SETBP1):c.4001-278G>A	not provided [RCV001588280]	likely benign	18	45038207	45038207	Human		name
150454497	CV1232283	single nucleotide variant	NM_015559.3(SETBP1):c.-172-195G>A	not provided [RCV001648296]	benign	18	44700980	44700980	Human		name
150442035	CV1287659	single nucleotide variant	NM_015559.3(SETBP1):c.4171+113C>T	not provided [RCV001725379]	benign	18	45038768	45038768	Human		name
150521141	CV1290888	single nucleotide variant	NM_015559.3(SETBP1):c.540+7239T>G	not provided [RCV001732521]	benign	18	44876522	44876522	Human		name
9683791	CV169419	single nucleotide variant	NM_015559.3(SETBP1):c.540+7405G>A	Schinzel-Giedion syndrome [RCV003315936]\|not provided [RCV001610450]\|not specified [RCV000147471]	benign\|likely benign	18	44876688	44876688	Human	1	name
155993438	CV2252266	single nucleotide variant	NM_015559.3(SETBP1):c.540+7432T>C	Inborn genetic diseases [RCV002778748]	uncertain significance	18	44876715	44876715	Human	1	name
401932713	CV2804422	single nucleotide variant	NM_015559.3(SETBP1):c.540+7443A>C	SETBP1-related disorder [RCV004531765]	uncertain significance	18	44876726	44876726	Human		name , trait , alternate_id
401908256	CV2818322	single nucleotide variant	NM_015559.3(SETBP1):c.540+7444C>T	Schinzel-Giedion syndrome [RCV005399387]\|not provided [RCV003423072]	likely benign	18	44876727	44876727	Human	1	name
401936004	CV2818323	single nucleotide variant	NM_015559.3(SETBP1):c.540+7467A>G	not provided [RCV003413445]	likely benign	18	44876750	44876750	Human		name
405273572	CV3198088	single nucleotide variant	NM_015559.3(SETBP1):c.540+7475G>A	SETBP1-related disorder [RCV004534559]	likely benign	18	44876758	44876758	Human		name , trait , alternate_id
405289373	CV3218242	single nucleotide variant	NM_015559.3(SETBP1):c.540+7371C>T	SETBP1-related disorder [RCV004544191]	likely benign	18	44876654	44876654	Human		name , trait , alternate_id
408368873	CV3516962	single nucleotide variant	NM_015559.3(SETBP1):c.540+7404C>T	SETBP1-related disorder [RCV004736069]	likely benign	18	44876687	44876687	Human		name , trait , alternate_id
598245737	CV3896561	single nucleotide variant	NM_015559.3(SETBP1):c.540+7363G>T	Schinzel-Giedion syndrome [RCV005365842]	likely pathogenic	18	44876646	44876646	Human	1	name
598177398	CV4008287	single nucleotide variant	NM_015559.3(SETBP1):c.540+7390C>T	Schinzel-Giedion syndrome [RCV005393805]	uncertain significance	18	44876673	44876673	Human	1	name
598177404	CV4008288	single nucleotide variant	NM_015559.3(SETBP1):c.540+7438A>G	Schinzel-Giedion syndrome [RCV005393806]	uncertain significance	18	44876721	44876721	Human	1	name
150425615	CV1185364	microsatellite	NM_015559.3(SETBP1):c.487-211AG[4]	not provided [RCV001558242]	likely benign	18	44869018	44869019	Human		name
8585731	CV120320	single nucleotide variant	NM_015559.2(SETBP1):c.487-59901A>T	Lung cancer [RCV000100840]	uncertain significance	18	44809329	44809329	Human		name
8585732	CV120321	single nucleotide variant	NM_015559.2(SETBP1):c.4171+9896T>A	Lung cancer [RCV000100841]	uncertain significance	18	45048551	45048551	Human		name
152055276	CV1582078	single nucleotide variant	NM_015559.3(SETBP1):c.487-37392G>A	not provided [RCV002089631]	likely benign	18	44831838	44831838	Human		name
152058842	CV1597316	single nucleotide variant	NM_015559.3(SETBP1):c.487-37392G>C	not provided [RCV002128105]	benign	18	44831838	44831838	Human	4	name
152090594	CV1661916	single nucleotide variant	NM_015559.3(SETBP1):c.487-49605A>G	not provided [RCV002131994]	benign	18	44819625	44819625	Human		name
407455464	CV3415577	single nucleotide variant	NM_015559.3(SETBP1):c.487-69047T>C	not specified [RCV004598460]	benign	18	44800183	44800183	Human	1	name
407455464	CV3415577	single nucleotide variant	NM_015559.3(SETBP1):c.487-69047T>C	not specified [RCV004598460]	benign	18	44800183	44800184	Human	1	name
405295361	CV3204464	microsatellite	NM_015559.3(SETBP1):c.540+7417TC[5]	SETBP1-related disorder [RCV004543985]	likely pathogenic	18	44876699	44876700	Human		name , trait , alternate_id
402487988	CV2856399	deletion	NM_015559.3(SETBP1):c.333_486+171del	not provided [RCV003572725]	likely pathogenic	18	44701675	44701999	Human		name
11615003	CV331316	deletion	NM_015559.3(SETBP1):c.1643_1647del	Schinzel-Giedion syndrome [RCV000281755]	uncertain significance	18	45065339	45065343	Human	1	name
11664280	CV348318	deletion	NM_015559.3(SETBP1):c.2063_2066del	Schinzel-Giedion syndrome [RCV000404416]	uncertain significance	18	45065759	45065762	Human	1	name
405236754	CV2884747	duplication	NM_015559.3(SETBP1):c.4155_4171+10dup	not provided [RCV003556552]	uncertain significance	18	45038638	45038639	Human		name
11654715	CV331347	insertion	NM_015559.3(SETBP1):c.2970_2971insT	Schinzel-Giedion syndrome [RCV000320198]	uncertain significance	18	45066668	45066669	Human	1	name
152053787	CV1574156	single nucleotide variant	NM_015559.3(SETBP1):c.45C>T (p.Gly15=)	not provided [RCV002189719]	benign	18	44701391	44701391	Human		name
155927668	CV1912227	single nucleotide variant	NM_015559.3(SETBP1):c.63G>A (p.Pro21=)	not provided [RCV002614842]	likely benign	18	44701409	44701409	Human		name
405231782	CV2988380	single nucleotide variant	NM_015559.3(SETBP1):c.96C>G (p.Gly32=)	not provided [RCV003711579]	likely benign	18	44701442	44701442	Human		name
402496232	CV3005829	single nucleotide variant	NM_015559.3(SETBP1):c.84A>G (p.Pro28=)	not provided [RCV003688038]	likely benign	18	44701430	44701430	Human		name
597860850	CV3800766	single nucleotide variant	NM_015559.3(SETBP1):c.72A>C (p.Ser24=)	not provided [RCV005135166]	likely benign	18	44701418	44701418	Human		name
597908248	CV3833822	single nucleotide variant	NM_015559.3(SETBP1):c.99T>C (p.Cys33=)	not provided [RCV005183181]	likely benign	18	44701445	44701445	Human		name
15161071	CV756443	single nucleotide variant	NM_015559.3(SETBP1):c.78G>A (p.Lys26=)	not provided [RCV000925612]	likely benign	18	44701424	44701424	Human		name
151729585	CV1388843	single nucleotide variant	NM_015559.3(SETBP1):c.225G>A (p.Ala75=)	not provided [RCV001966965]	likely benign\|uncertain significance	18	44701571	44701571	Human		name
151713901	CV1476851	single nucleotide variant	NM_015559.3(SETBP1):c.141G>T (p.Gly47=)	not provided [RCV001908572]	likely benign\|uncertain significance	18	44701487	44701487	Human		name
151750255	CV1512112	single nucleotide variant	NM_015559.3(SETBP1):c.26G>C (p.Ser9Thr)	not provided [RCV001986214]	benign\|uncertain significance	18	44701372	44701372	Human		name
152126820	CV1533869	single nucleotide variant	NM_015559.3(SETBP1):c.117C>T (p.Leu39=)	not provided [RCV002136422]	likely benign	18	44701463	44701463	Human		name
152158356	CV1541982	single nucleotide variant	NM_015559.3(SETBP1):c.171A>G (p.Pro57=)	not provided [RCV002103309]	likely benign	18	44701517	44701517	Human		name
152079475	CV1549987	single nucleotide variant	NM_015559.3(SETBP1):c.243G>A (p.Val81=)	not provided [RCV002192844]	likely benign	18	44701589	44701589	Human		name
152066056	CV1556911	single nucleotide variant	NM_015559.3(SETBP1):c.102A>C (p.Ala34=)	not provided [RCV002191185]	benign	18	44701448	44701448	Human		name
152065100	CV1583344	single nucleotide variant	NM_015559.3(SETBP1):c.153C>T (p.Gly51=)	not provided [RCV002110671]	likely benign	18	44701499	44701499	Human		name
152140406	CV1625134	single nucleotide variant	NM_015559.3(SETBP1):c.222C>T (p.Asn74=)	not provided [RCV002219295]	likely benign	18	44701568	44701568	Human		name
152153794	CV1643437	single nucleotide variant	NM_015559.3(SETBP1):c.288A>G (p.Ala96=)	not provided [RCV002122129]	likely benign	18	44701634	44701634	Human		name
152101497	CV1667086	single nucleotide variant	NM_015559.3(SETBP1):c.204T>C (p.Asp68=)	not provided [RCV002214072]	likely benign	18	44701550	44701550	Human		name
155705142	CV1771340	single nucleotide variant	NM_015559.3(SETBP1):c.10A>G (p.Arg4Gly)	not provided [RCV002295820]	uncertain significance	18	44701356	44701356	Human		name
156164318	CV1907641	single nucleotide variant	NM_015559.3(SETBP1):c.177G>A (p.Glu59=)	not provided [RCV003083020]	likely benign	18	44701523	44701523	Human		name
156382761	CV2118163	single nucleotide variant	NM_015559.3(SETBP1):c.264G>A (p.Glu88=)	SETBP1-related disorder [RCV004545448]\|not provided [RCV002943268]	likely benign	18	44701610	44701610	Human	1	name , alternate_id
156099248	CV2132199	single nucleotide variant	NM_015559.3(SETBP1):c.25A>G (p.Ser9Gly)	not provided [RCV003002150]	benign	18	44701371	44701371	Human		name
156136485	CV2186375	single nucleotide variant	NM_015559.3(SETBP1):c.135G>A (p.Gly45=)	not provided [RCV003056020]	likely benign	18	44701481	44701481	Human		name
404978971	CV3013244	single nucleotide variant	NM_015559.3(SETBP1):c.111T>G (p.Pro37=)	not provided [RCV003690889]	likely benign	18	44701457	44701457	Human		name
11627698	CV348255	single nucleotide variant	NM_015559.3(SETBP1):c.141G>A (p.Gly47=)	Schinzel-Giedion syndrome [RCV003316485]\|not provided [RCV000875413]	benign\|likely benign	18	44701487	44701487	Human	1	name
597866084	CV3794514	deletion	NM_015559.3(SETBP1):c.44del (p.Gly15fs)	not provided [RCV005140690]	pathogenic	18	44701386	44701386	Human		name
597897068	CV3825325	single nucleotide variant	NM_015559.3(SETBP1):c.147G>A (p.Pro49=)	not provided [RCV005172008]	likely benign	18	44701493	44701493	Human		name
597923099	CV3849881	single nucleotide variant	NM_015559.3(SETBP1):c.144C>T (p.Ile48=)	not provided [RCV005197870]	likely benign	18	44701490	44701490	Human		name
15168208	CV741359	single nucleotide variant	NM_015559.3(SETBP1):c.199C>A (p.Arg67=)	not provided [RCV000904806]	likely benign	18	44701545	44701545	Human		name
38472014	CV938430	duplication	NM_015559.3(SETBP1):c.44dup (p.Glu16fs)	Intellectual disability, autosomal dominant 29 [RCV002287481]\|not provided [RCV001203003]	pathogenic	18	44701385	44701386	Human	1	name
150470669	CV1209368	single nucleotide variant	NM_015559.3(SETBP1):c.684C>T (p.Ser228=)	not provided [RCV001588479]	benign\|likely benign	18	44950024	44950024	Human		name
150439572	CV1274837	single nucleotide variant	NM_015559.3(SETBP1):c.927C>T (p.Asn309=)	SETBP1-related disorder [RCV004542088]\|not provided [RCV001703358]	likely benign	18	44950267	44950267	Human	1	name , alternate_id
150555012	CV1310002	single nucleotide variant	NM_015559.3(SETBP1):c.44G>A (p.Gly15Asp)	not provided [RCV003238009]	uncertain significance	18	44701390	44701390	Human		name
151349839	CV1325479	single nucleotide variant	NM_015559.3(SETBP1):c.62C>T (p.Pro21Leu)	not provided [RCV001814765]	conflicting interpretations of pathogenicity\|uncertain significance	18	44701408	44701408	Human		name
151812543	CV1349703	single nucleotide variant	NM_015559.3(SETBP1):c.67T>C (p.Ser23Pro)	not provided [RCV001974918]	benign\|uncertain significance	18	44701413	44701413	Human		name
151855818	CV1401789	single nucleotide variant	NM_015559.3(SETBP1):c.86C>T (p.Ala29Val)	not provided [RCV002017163]	uncertain significance	18	44701432	44701432	Human		name
151772941	CV1402751	single nucleotide variant	NM_015559.3(SETBP1):c.858G>A (p.Leu286=)	not provided [RCV001896520]	likely benign\|uncertain significance	18	44950198	44950198	Human		name
151880275	CV1405837	single nucleotide variant	NM_015559.3(SETBP1):c.31C>T (p.Arg11Trp)	not provided [RCV001940916]	likely benign\|uncertain significance	18	44701377	44701377	Human		name
151868819	CV1438167	single nucleotide variant	NM_015559.3(SETBP1):c.55T>G (p.Phe19Val)	not provided [RCV001906207]	uncertain significance	18	44701401	44701401	Human		name
151748562	CV1442371	single nucleotide variant	NM_015559.3(SETBP1):c.59T>C (p.Leu20Pro)	not provided [RCV002043028]	uncertain significance	18	44701405	44701405	Human		name
151755006	CV1453913	single nucleotide variant	NM_015559.3(SETBP1):c.79C>T (p.Pro27Ser)	Inborn genetic diseases [RCV002555633]\|not provided [RCV001913363]	uncertain significance	18	44701425	44701425	Human	1	name
152112268	CV1520725	single nucleotide variant	NM_015559.3(SETBP1):c.864T>C (p.Gly288=)	not provided [RCV002196935]	likely benign	18	44950204	44950204	Human		name
152095284	CV1521104	single nucleotide variant	NM_015559.3(SETBP1):c.615C>A (p.Thr205=)	not provided [RCV002078259]	likely benign	18	44949955	44949955	Human		name
152065636	CV1539805	single nucleotide variant	NM_015559.3(SETBP1):c.765G>A (p.Glu255=)	not provided [RCV002147385]	likely benign	18	44950105	44950105	Human		name
152143358	CV1542972	single nucleotide variant	NM_015559.3(SETBP1):c.987T>C (p.Pro329=)	SETBP1-related disorder [RCV004545230]\|not provided [RCV002178346]\|not specified [RCV003331326]	likely benign	18	44950327	44950327	Human	1	name , alternate_id
152157184	CV1573157	single nucleotide variant	NM_015559.3(SETBP1):c.819G>A (p.Thr273=)	not provided [RCV002180279]	likely benign	18	44950159	44950159	Human		name
152100738	CV1578786	single nucleotide variant	NM_015559.3(SETBP1):c.675C>T (p.Asn225=)	not provided [RCV002151780]	likely benign	18	44950015	44950015	Human		name
152102775	CV1579106	single nucleotide variant	NM_015559.3(SETBP1):c.555C>G (p.Pro185=)	not provided [RCV002079207]	likely benign	18	44949895	44949895	Human		name
152113762	CV1586243	single nucleotide variant	NM_015559.3(SETBP1):c.690C>T (p.Pro230=)	not provided [RCV002153393]	likely benign	18	44950030	44950030	Human		name
152102113	CV1590647	single nucleotide variant	NM_015559.3(SETBP1):c.990G>A (p.Thr330=)	not provided [RCV002115480]	likely benign	18	44950330	44950330	Human		name
152140335	CV1628758	single nucleotide variant	NM_015559.3(SETBP1):c.756C>T (p.Pro252=)	not provided [RCV002100686]	likely benign	18	44950096	44950096	Human		name
152070702	CV1630520	single nucleotide variant	NM_015559.3(SETBP1):c.507T>C (p.Leu169=)	not provided [RCV002129583]	likely benign	18	44869250	44869250	Human		name
152054937	CV1637199	single nucleotide variant	NM_015559.3(SETBP1):c.606C>T (p.Thr202=)	not provided [RCV002207964]	likely benign	18	44949946	44949946	Human		name
152028981	CV1655489	single nucleotide variant	NM_015559.3(SETBP1):c.636A>G (p.Gln212=)	not provided [RCV002105426]	likely benign	18	44949976	44949976	Human		name
9683790	CV169418	single nucleotide variant	NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys)	Inborn genetic diseases [RCV003258669]\|Schinzel-Giedion syndrome [RCV000147470]\|not provided [RCV002055930]	benign\|likely benign\|uncertain significance	18	44701392	44701392	Human	2	name
156391682	CV1879642	single nucleotide variant	NM_015559.3(SETBP1):c.855C>A (p.Leu285=)	not provided [RCV003068100]	likely benign	18	44950195	44950195	Human		name
156209959	CV1902336	single nucleotide variant	NM_015559.3(SETBP1):c.402G>A (p.Lys134=)	not provided [RCV003084555]	likely benign	18	44701748	44701748	Human		name
156344391	CV1907644	single nucleotide variant	NM_015559.3(SETBP1):c.32G>A (p.Arg11Gln)	not provided [RCV003090551]	likely benign	18	44701378	44701378	Human		name
156444238	CV1937767	single nucleotide variant	NM_015559.3(SETBP1):c.309G>A (p.Leu103=)	not provided [RCV003115161]	likely benign	18	44701655	44701655	Human		name
156390482	CV1996215	single nucleotide variant	NM_015559.3(SETBP1):c.480A>G (p.Lys160=)	not provided [RCV002654330]	likely benign	18	44701826	44701826	Human		name
155914407	CV2033138	single nucleotide variant	NM_015559.3(SETBP1):c.762T>C (p.Leu254=)	not provided [RCV002750375]	likely benign	18	44950102	44950102	Human		name
155970647	CV2062448	single nucleotide variant	NM_015559.3(SETBP1):c.813G>A (p.Gly271=)	not provided [RCV002842061]	likely benign	18	44950153	44950153	Human		name
156313684	CV2089432	single nucleotide variant	NM_015559.3(SETBP1):c.345A>G (p.Lys115=)	not provided [RCV002898863]	likely benign	18	44701691	44701691	Human		name
156206006	CV2092723	single nucleotide variant	NM_015559.3(SETBP1):c.330A>G (p.Thr110=)	not provided [RCV002917969]	benign	18	44701676	44701676	Human		name
156218908	CV2107201	single nucleotide variant	NM_015559.3(SETBP1):c.585G>A (p.Thr195=)	not provided [RCV002918481]	benign	18	44949925	44949925	Human		name
155994481	CV2112976	single nucleotide variant	NM_015559.3(SETBP1):c.83C>T (p.Pro28Leu)	not provided [RCV002947491]	uncertain significance	18	44701429	44701429	Human		name
155941967	CV2114963	single nucleotide variant	NM_015559.3(SETBP1):c.453G>A (p.Thr151=)	not provided [RCV002904531]	likely benign	18	44701799	44701799	Human		name
405217416	CV2873475	single nucleotide variant	NM_015559.3(SETBP1):c.645C>T (p.Ser215=)	not provided [RCV003553401]	likely benign	18	44949985	44949985	Human		name
405212300	CV2974490	single nucleotide variant	NM_015559.3(SETBP1):c.819G>T (p.Thr273=)	not provided [RCV003679570]	likely benign	18	44950159	44950159	Human		name
405232185	CV2974718	single nucleotide variant	NM_015559.3(SETBP1):c.381T>A (p.Pro127=)	not provided [RCV003682445]	likely benign	18	44701727	44701727	Human		name
402492108	CV2981172	single nucleotide variant	NM_015559.3(SETBP1):c.44G>T (p.Gly15Val)	not provided [RCV003713876]	uncertain significance	18	44701390	44701390	Human		name
404996916	CV2992613	single nucleotide variant	NM_015559.3(SETBP1):c.49T>C (p.Ser17Pro)	not provided [RCV003692787]	uncertain significance	18	44701395	44701395	Human		name
405014679	CV2994205	single nucleotide variant	NM_015559.3(SETBP1):c.414C>T (p.Asp138=)	not provided [RCV003694206]	likely benign	18	44701760	44701760	Human		name
405001287	CV3005435	single nucleotide variant	NM_015559.3(SETBP1):c.519C>T (p.Asp173=)	not provided [RCV003693150]	likely benign	18	44869262	44869262	Human		name
402496967	CV3005958	single nucleotide variant	NM_015559.3(SETBP1):c.768C>A (p.Pro256=)	not provided [RCV003688105]	likely benign	18	44950108	44950108	Human		name
405154041	CV3027964	single nucleotide variant	NM_015559.3(SETBP1):c.71C>T (p.Ser24Leu)	not provided [RCV003703488]	uncertain significance	18	44701417	44701417	Human		name
402504124	CV3038819	single nucleotide variant	NM_015559.3(SETBP1):c.885C>T (p.Ser295=)	not provided [RCV003715036]	benign	18	44950225	44950225	Human		name
405236120	CV3040911	single nucleotide variant	NM_015559.3(SETBP1):c.651G>A (p.Gln217=)	not provided [RCV003712282]	likely benign	18	44949991	44949991	Human		name
405085253	CV3043811	single nucleotide variant	NM_015559.3(SETBP1):c.31C>G (p.Arg11Gly)	not provided [RCV003717426]	uncertain significance	18	44701377	44701377	Human		name
405253408	CV3044154	single nucleotide variant	NM_015559.3(SETBP1):c.474C>T (p.His158=)	not provided [RCV003722375]	benign	18	44701820	44701820	Human		name
405186898	CV3058860	single nucleotide variant	NM_015559.3(SETBP1):c.358T>C (p.Leu120=)	not provided [RCV003729351]	likely benign	18	44701704	44701704	Human		name
405208225	CV3065360	single nucleotide variant	NM_015559.3(SETBP1):c.585G>T (p.Thr195=)	not provided [RCV003731620]	likely benign	18	44949925	44949925	Human		name
11616835	CV331281	single nucleotide variant	NM_015559.3(SETBP1):c.969G>A (p.Lys323=)	SETBP1-related disorder [RCV004537826]\|not provided [RCV000872936]	likely benign\|uncertain significance	18	44950309	44950309	Human	1	name , alternate_id
11624633	CV341606	single nucleotide variant	NM_015559.3(SETBP1):c.85G>A (p.Ala29Thr)	SETBP1-related disorder [RCV004543817]\|not provided [RCV002122722]	benign\|likely benign	18	44701431	44701431	Human	1	name , alternate_id
11664289	CV341607	single nucleotide variant	NM_015559.3(SETBP1):c.816C>T (p.Asn272=)	Schinzel-Giedion syndrome [RCV000404491]	uncertain significance	18	44950156	44950156	Human		name
407457357	CV3416114	single nucleotide variant	NM_015559.3(SETBP1):c.80C>T (p.Pro27Leu)	not provided [RCV004598992]	uncertain significance	18	44701426	44701426	Human		name
597947157	CV3752263	single nucleotide variant	NM_015559.3(SETBP1):c.516T>C (p.Ser172=)	not provided [RCV005078733]	likely benign	18	44869259	44869259	Human		name
597837383	CV3761492	single nucleotide variant	NM_015559.3(SETBP1):c.64G>A (p.Val22Ile)	not provided [RCV005085863]	likely benign	18	44701410	44701410	Human		name
597843486	CV3769219	single nucleotide variant	NM_015559.3(SETBP1):c.327C>G (p.Thr109=)	not provided [RCV005118714]	likely benign	18	44701673	44701673	Human		name
597849650	CV3777303	single nucleotide variant	NM_015559.3(SETBP1):c.894A>T (p.Ser298=)	not provided [RCV005124902]	likely benign	18	44950234	44950234	Human		name
597861041	CV3800954	single nucleotide variant	NM_015559.3(SETBP1):c.654C>T (p.Asn218=)	not provided [RCV005135354]	likely benign	18	44949994	44949994	Human		name
597885509	CV3818332	single nucleotide variant	NM_015559.3(SETBP1):c.573C>T (p.Leu191=)	not provided [RCV005160593]	benign	18	44949913	44949913	Human		name
597909865	CV3840438	single nucleotide variant	NM_015559.3(SETBP1):c.876C>A (p.Ser292=)	not provided [RCV005184907]	benign	18	44950216	44950216	Human		name
597909982	CV3840550	single nucleotide variant	NM_015559.3(SETBP1):c.80C>A (p.Pro27His)	not provided [RCV005185021]	uncertain significance	18	44701426	44701426	Human		name
597929443	CV3850515	single nucleotide variant	NM_015559.3(SETBP1):c.807T>C (p.Ser269=)	not provided [RCV005203664]	likely benign	18	44950147	44950147	Human		name
15136643	CV741360	single nucleotide variant	NM_015559.3(SETBP1):c.768C>T (p.Pro256=)	not provided [RCV000898663]	likely benign	18	44950108	44950108	Human		name
15102809	CV772134	single nucleotide variant	NM_015559.3(SETBP1):c.546C>T (p.Tyr182=)	not provided [RCV000937064]	likely benign	18	44949886	44949886	Human		name
127337779	CV1148143	single nucleotide variant	NM_015559.3(SETBP1):c.2592G>A (p.Thr864=)	not provided [RCV001493067]	likely benign	18	44951932	44951932	Human		name
150338457	CV1174208	single nucleotide variant	NM_015559.3(SETBP1):c.165G>A (p.Met55Ile)	Inborn genetic diseases [RCV004968206]\|Schinzel-Giedion syndrome [RCV001542386]\|not provided [RCV002570657]	likely benign\|uncertain significance	18	44701511	44701511	Human	2	name
150422611	CV1181633	single nucleotide variant	NM_015559.3(SETBP1):c.2985G>A (p.Pro995=)	not provided [RCV001552878]	benign\|likely benign\|conflicting interpretations of pathogenicity	18	44952325	44952325	Human		name
150410975	CV1192053	single nucleotide variant	NM_015559.3(SETBP1):c.2706G>A (p.Pro902=)	SETBP1-related disorder [RCV004542013]\|not provided [RCV001566328]	likely benign	18	44952046	44952046	Human	1	name , alternate_id
150547786	CV1292286	deletion	NM_015559.3(SETBP1):c.632del (p.Gln211fs)	Intellectual disability, autosomal dominant 29 [RCV001733871]	pathogenic	18	44949972	44949972	Human	1	name
150556545	CV1303242	single nucleotide variant	NM_015559.3(SETBP1):c.160C>T (p.Arg54Cys)	not provided [RCV001774435]	conflicting interpretations of pathogenicity\|uncertain significance	18	44701506	44701506	Human		name
150547901	CV1303856	single nucleotide variant	NM_015559.3(SETBP1):c.2148C>T (p.Ser716=)	not provided [RCV001763959]	conflicting interpretations of pathogenicity\|uncertain significance	18	44951488	44951488	Human		name
151758933	CV1355053	single nucleotide variant	NM_015559.3(SETBP1):c.1812A>T (p.Gly604=)	not provided [RCV001948913]	likely benign\|uncertain significance	18	44951152	44951152	Human		name
151752056	CV1370454	single nucleotide variant	NM_015559.3(SETBP1):c.110C>T (p.Pro37Leu)	not provided [RCV001894433]	likely benign\|uncertain significance	18	44701456	44701456	Human		name
151864977	CV1370898	single nucleotide variant	NM_015559.3(SETBP1):c.161G>T (p.Arg54Leu)	not provided [RCV001884421]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	44701507	44701507	Human		name
151879105	CV1383640	single nucleotide variant	NM_015559.3(SETBP1):c.131C>G (p.Pro44Arg)	not provided [RCV001907439]	uncertain significance	18	44701477	44701477	Human		name
151743142	CV1385661	single nucleotide variant	NM_015559.3(SETBP1):c.146C>T (p.Pro49Leu)	not provided [RCV002042435]	uncertain significance	18	44701492	44701492	Human		name
151765049	CV1403233	single nucleotide variant	NM_015559.3(SETBP1):c.222C>A (p.Asn74Lys)	not provided [RCV001914415]	uncertain significance	18	44701568	44701568	Human		name
151837324	CV1416927	single nucleotide variant	NM_015559.3(SETBP1):c.109C>T (p.Pro37Ser)	not provided [RCV002014932]	uncertain significance	18	44701455	44701455	Human		name
151743594	CV1431767	single nucleotide variant	NM_015559.3(SETBP1):c.2959C>A (p.Arg987=)	not provided [RCV001926713]	likely benign\|uncertain significance	18	44952299	44952299	Human		name
151755558	CV1449260	single nucleotide variant	NM_015559.3(SETBP1):c.2772G>A (p.Val924=)	not provided [RCV001986718]	likely benign\|uncertain significance	18	44952112	44952112	Human		name
151779243	CV1467496	single nucleotide variant	NM_015559.3(SETBP1):c.110C>A (p.Pro37His)	not provided [RCV001971925]	benign\|uncertain significance	18	44701456	44701456	Human		name
151753450	CV1471106	single nucleotide variant	NM_015559.3(SETBP1):c.148G>A (p.Val50Met)	Inborn genetic diseases [RCV005271535]\|not provided [RCV001948382]	likely benign\|uncertain significance	18	44701494	44701494	Human	1	name
151816095	CV1486226	single nucleotide variant	NM_015559.3(SETBP1):c.200G>A (p.Arg67Gln)	not provided [RCV002049322]	conflicting interpretations of pathogenicity\|uncertain significance	18	44701546	44701546	Human		name
151740352	CV1492424	single nucleotide variant	NM_015559.3(SETBP1):c.208G>T (p.Asp70Tyr)	not provided [RCV002042167]	uncertain significance	18	44701554	44701554	Human		name
151727325	CV1511750	single nucleotide variant	NM_015559.3(SETBP1):c.277A>G (p.Ile93Val)	not provided [RCV001983842]	uncertain significance	18	44701623	44701623	Human		name
152141225	CV1520563	single nucleotide variant	NM_015559.3(SETBP1):c.2217C>T (p.Ser739=)	not provided [RCV002178083]	likely benign	18	44951557	44951557	Human		name
152106725	CV1527419	single nucleotide variant	NM_015559.3(SETBP1):c.2292C>T (p.Asn764=)	not provided [RCV002079705]	likely benign	18	44951632	44951632	Human		name
152052369	CV1531619	single nucleotide variant	NM_015559.3(SETBP1):c.1911G>A (p.Pro637=)	not provided [RCV002072539]	likely benign	18	44951251	44951251	Human		name
152097956	CV1534412	single nucleotide variant	NM_015559.3(SETBP1):c.1524G>C (p.Thr508=)	not provided [RCV002095114]	likely benign	18	44950864	44950864	Human		name
152109758	CV1536862	single nucleotide variant	NM_015559.3(SETBP1):c.2061C>T (p.Ser687=)	not provided [RCV002215316]	likely benign	18	44951401	44951401	Human		name
152084312	CV1537452	single nucleotide variant	NM_015559.3(SETBP1):c.1905A>G (p.Leu635=)	not provided [RCV002149720]	likely benign	18	44951245	44951245	Human		name
152143405	CV1538394	single nucleotide variant	NM_015559.3(SETBP1):c.2622C>T (p.Asp874=)	not provided [RCV002219676]	likely benign	18	44951962	44951962	Human		name
152112050	CV1539179	single nucleotide variant	NM_015559.3(SETBP1):c.1569T>C (p.His523=)	not provided [RCV002080386]	likely benign	18	44950909	44950909	Human		name
152164389	CV1557594	single nucleotide variant	NM_015559.3(SETBP1):c.2799C>A (p.Leu933=)	not provided [RCV002141511]	likely benign	18	44952139	44952139	Human		name
152061629	CV1558405	single nucleotide variant	NM_015559.3(SETBP1):c.1242C>T (p.Thr414=)	not provided [RCV002128406]	likely benign	18	44950582	44950582	Human		name
152150209	CV1559429	single nucleotide variant	NM_015559.3(SETBP1):c.1140A>T (p.Ala380=)	not provided [RCV002220690]	likely benign	18	44950480	44950480	Human		name
152155149	CV1563737	single nucleotide variant	NM_015559.3(SETBP1):c.2268G>A (p.Pro756=)	not provided [RCV002202561]	likely benign	18	44951608	44951608	Human		name
152116265	CV1566852	single nucleotide variant	NM_015559.3(SETBP1):c.1200C>G (p.Val400=)	not provided [RCV002097529]	likely benign	18	44950540	44950540	Human		name
152149511	CV1569363	single nucleotide variant	NM_015559.3(SETBP1):c.2874G>A (p.Glu958=)	SETBP1-related disorder [RCV004543744]\|not provided [RCV002220581]	likely benign	18	44952214	44952214	Human	1	name , alternate_id
152037984	CV1576566	single nucleotide variant	NM_015559.3(SETBP1):c.2595C>A (p.Ile865=)	not provided [RCV002107309]	likely benign	18	44951935	44951935	Human		name
152038008	CV1576578	single nucleotide variant	NM_015559.3(SETBP1):c.1656T>C (p.Asp552=)	not provided [RCV002107312]	likely benign	18	44950996	44950996	Human		name
152155368	CV1579627	single nucleotide variant	NM_015559.3(SETBP1):c.2064T>A (p.Val688=)	not provided [RCV002158769]	likely benign	18	44951404	44951404	Human		name
152070466	CV1581218	single nucleotide variant	NM_015559.3(SETBP1):c.2523C>T (p.His841=)	not provided [RCV002091514]	likely benign	18	44951863	44951863	Human		name
152141773	CV1586307	single nucleotide variant	NM_015559.3(SETBP1):c.1677G>A (p.Pro559=)	not provided [RCV002178150]	benign	18	44951017	44951017	Human		name
152136364	CV1587842	single nucleotide variant	NM_015559.3(SETBP1):c.1245C>T (p.Asn415=)	not provided [RCV002083558]	likely benign	18	44950585	44950585	Human		name
152044885	CV1590614	single nucleotide variant	NM_015559.3(SETBP1):c.1083A>G (p.Ala361=)	not provided [RCV002108226]	likely benign	18	44950423	44950423	Human		name
152031193	CV1593416	single nucleotide variant	NM_015559.3(SETBP1):c.2586G>A (p.Glu862=)	not provided [RCV002106096]	likely benign	18	44951926	44951926	Human		name
152072435	CV1597758	single nucleotide variant	NM_015559.3(SETBP1):c.2073G>A (p.Lys691=)	not provided [RCV002169473]	likely benign	18	44951413	44951413	Human		name
152133794	CV1598554	single nucleotide variant	NM_015559.3(SETBP1):c.2814C>T (p.His938=)	not provided [RCV002177155]	likely benign	18	44952154	44952154	Human		name
152087760	CV1601318	single nucleotide variant	NM_015559.3(SETBP1):c.2961G>T (p.Arg987=)	not provided [RCV002093737]	likely benign	18	44952301	44952301	Human		name
152160595	CV1601677	single nucleotide variant	NM_015559.3(SETBP1):c.2646G>A (p.Ala882=)	not provided [RCV002180862]	likely benign	18	44951986	44951986	Human		name
152137190	CV1603693	single nucleotide variant	NM_015559.3(SETBP1):c.2616G>C (p.Gly872=)	not provided [RCV002218880]	likely benign	18	44951956	44951956	Human		name
152137681	CV1603778	single nucleotide variant	NM_015559.3(SETBP1):c.1641T>C (p.Val547=)	not provided [RCV002218944]	likely benign	18	44950981	44950981	Human		name
152099761	CV1606611	single nucleotide variant	NM_015559.3(SETBP1):c.1428C>G (p.Pro476=)	not provided [RCV002195397]	benign	18	44950768	44950768	Human		name
152082504	CV1608058	single nucleotide variant	NM_015559.3(SETBP1):c.1890G>A (p.Ala630=)	not provided [RCV002193207]	likely benign	18	44951230	44951230	Human		name
152104513	CV1609349	single nucleotide variant	NM_015559.3(SETBP1):c.2529C>T (p.Cys843=)	not provided [RCV002115771]	benign	18	44951869	44951869	Human		name
152036177	CV1617450	single nucleotide variant	NM_015559.3(SETBP1):c.2740C>A (p.Arg914=)	not provided [RCV002125362]	likely benign	18	44952080	44952080	Human		name
152158786	CV1620810	single nucleotide variant	NM_015559.3(SETBP1):c.2790C>T (p.His930=)	not provided [RCV002203074]	likely benign	18	44952130	44952130	Human		name
152133056	CV1621558	single nucleotide variant	NM_015559.3(SETBP1):c.1047C>T (p.Asn349=)	not provided [RCV002218339]	likely benign	18	44950387	44950387	Human		name
152149711	CV1622533	single nucleotide variant	NM_015559.3(SETBP1):c.1038C>T (p.Thr346=)	not provided [RCV002220609]	likely benign	18	44950378	44950378	Human		name
152125777	CV1630299	single nucleotide variant	NM_015559.3(SETBP1):c.1972T>C (p.Leu658=)	not provided [RCV002154852]	likely benign	18	44951312	44951312	Human		name
152093320	CV1631935	single nucleotide variant	NM_015559.3(SETBP1):c.161G>A (p.Arg54His)	SETBP1-related disorder [RCV004531412]\|not provided [RCV002132313]	benign\|likely benign	18	44701507	44701507	Human	1	name , alternate_id
152162893	CV1635814	single nucleotide variant	NM_015559.3(SETBP1):c.1458T>C (p.Ala486=)	not provided [RCV002203740]	likely benign	18	44950798	44950798	Human		name
152052053	CV1649829	single nucleotide variant	NM_015559.3(SETBP1):c.2013A>G (p.Thr671=)	not provided [RCV002166997]	likely benign	18	44951353	44951353	Human		name
152115379	CV1659793	single nucleotide variant	NM_015559.3(SETBP1):c.2673G>A (p.Arg891=)	not provided [RCV002080816]	likely benign	18	44952013	44952013	Human		name
152139907	CV1660727	single nucleotide variant	NM_015559.3(SETBP1):c.2844C>T (p.Arg948=)	not provided [RCV002120218]	likely benign	18	44952184	44952184	Human		name
152175420	CV1663662	single nucleotide variant	NM_015559.3(SETBP1):c.2112C>T (p.Ala704=)	not provided [RCV002163554]	likely benign	18	44951452	44951452	Human		name
152099244	CV1663933	single nucleotide variant	NM_015559.3(SETBP1):c.1125T>C (p.Asp375=)	not provided [RCV002078770]	likely benign	18	44950465	44950465	Human		name
9681815	CV167421	deletion	NM_015559.3(SETBP1):c.427del (p.Arg143fs)	Intellectual disability, autosomal dominant 29 [RCV000144903]	pathogenic	18	44701771	44701771	Human	1	name
153304856	CV1687303	single nucleotide variant	NM_015559.3(SETBP1):c.2322A>G (p.Ala774=)	Schinzel-Giedion syndrome [RCV004729124]\|not provided [RCV002263121]	likely benign\|uncertain significance	18	44951662	44951662	Human	1	name
9683774	CV169421	single nucleotide variant	NM_015559.3(SETBP1):c.1170C>T (p.Ala390=)	SETBP1-related disorder [RCV004544345]\|Schinzel-Giedion syndrome [RCV003315931]\|not provided [RCV000875091]\|not specified [RCV000147454]	benign\|likely benign\|uncertain significance	18	44950510	44950510	Human	2	name , alternate_id
9683776	CV169423	single nucleotide variant	NM_015559.3(SETBP1):c.1503C>T (p.Pro501=)	Schinzel-Giedion syndrome [RCV000147456]\|not provided [RCV002055928]	likely benign\|uncertain significance	18	44950843	44950843	Human	1	name
9683777	CV169424	single nucleotide variant	NM_015559.3(SETBP1):c.1932C>T (p.Ser644=)	Schinzel-Giedion syndrome [RCV000147457]\|not provided [RCV000864285]\|not specified [RCV000516570]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	44951272	44951272	Human	2	name
9683777	CV169424	single nucleotide variant	NM_015559.3(SETBP1):c.1932C>T (p.Ser644=)	Schinzel-Giedion syndrome [RCV000147457]\|not provided [RCV000864285]\|not specified [RCV000516570]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	44951272	44951273	Human	2	name
155645165	CV1710645	single nucleotide variant	NM_015559.3(SETBP1):c.100G>T (p.Ala34Ser)	not provided [RCV002293941]	uncertain significance	18	44701446	44701446	Human		name
155803915	CV1858483	single nucleotide variant	NM_015559.3(SETBP1):c.194C>T (p.Ser65Leu)	not provided [RCV002462793]	uncertain significance	18	44701540	44701540	Human		name
155799378	CV1862472	deletion	NM_015559.3(SETBP1):c.623del (p.Pro208fs)	Intellectual disability, autosomal dominant 29 [RCV002471878]	pathogenic	18	44949962	44949962	Human	1	name
156320483	CV1873028	single nucleotide variant	NM_015559.3(SETBP1):c.1791A>C (p.Thr597=)	not provided [RCV003063028]	likely benign	18	44951131	44951131	Human		name
156410444	CV1882502	single nucleotide variant	NM_015559.3(SETBP1):c.1794C>T (p.Val598=)	not provided [RCV003072073]	likely benign	18	44951134	44951134	Human		name
156016979	CV1885323	single nucleotide variant	NM_015559.3(SETBP1):c.1074C>A (p.Ala358=)	not provided [RCV003077417]	likely benign	18	44950414	44950414	Human		name
156310540	CV1895346	single nucleotide variant	NM_015559.3(SETBP1):c.2556G>A (p.Thr852=)	not provided [RCV003088419]	likely benign	18	44951896	44951896	Human		name
156320090	CV1897765	single nucleotide variant	NM_015559.3(SETBP1):c.1266G>A (p.Gln422=)	not provided [RCV002579184]	likely benign	18	44950606	44950606	Human		name
156022872	CV1899482	single nucleotide variant	NM_015559.3(SETBP1):c.1215C>T (p.Pro405=)	not provided [RCV003100285]	likely benign	18	44950555	44950555	Human		name
156136241	CV1901968	single nucleotide variant	NM_015559.3(SETBP1):c.2202G>A (p.Glu734=)	not provided [RCV003082024]	likely benign	18	44951542	44951542	Human		name
156214710	CV1903232	single nucleotide variant	NM_015559.3(SETBP1):c.1800G>A (p.Thr600=)	not provided [RCV003084748]	benign	18	44951140	44951140	Human		name
156366553	CV1909336	single nucleotide variant	NM_015559.3(SETBP1):c.1968C>T (p.Gly656=)	not provided [RCV002602863]	benign	18	44951308	44951308	Human		name
156417710	CV1909998	single nucleotide variant	NM_015559.3(SETBP1):c.1995T>G (p.Thr665=)	not provided [RCV002610871]	likely benign	18	44951335	44951335	Human		name
156097366	CV1920496	single nucleotide variant	NM_015559.3(SETBP1):c.2694C>A (p.Ser898=)	not provided [RCV002592142]	likely benign	18	44952034	44952034	Human		name
156059891	CV1930941	single nucleotide variant	NM_015559.3(SETBP1):c.2433C>T (p.Ile811=)	not provided [RCV002638248]	benign	18	44951773	44951773	Human		name
156437514	CV1947519	single nucleotide variant	NM_015559.3(SETBP1):c.2013A>T (p.Thr671=)	not provided [RCV003107053]	likely benign	18	44951353	44951353	Human		name
156115140	CV1952278	single nucleotide variant	NM_015559.3(SETBP1):c.1536C>T (p.His512=)	not provided [RCV002571642]	benign	18	44950876	44950876	Human		name
156249605	CV1953750	single nucleotide variant	NM_015559.3(SETBP1):c.2542C>T (p.Leu848=)	not provided [RCV002576497]	likely benign	18	44951882	44951882	Human		name
156380268	CV1997879	single nucleotide variant	NM_015559.3(SETBP1):c.1947C>T (p.His649=)	not provided [RCV002653608]	likely benign	18	44951287	44951287	Human		name
156130685	CV2002185	single nucleotide variant	NM_015559.3(SETBP1):c.101C>T (p.Ala34Val)	not provided [RCV002663207]	uncertain significance	18	44701447	44701447	Human		name
156003108	CV2014853	single nucleotide variant	NM_015559.3(SETBP1):c.1503C>A (p.Pro501=)	not provided [RCV002690149]	likely benign	18	44950843	44950843	Human		name
156233025	CV2019876	single nucleotide variant	NM_015559.3(SETBP1):c.1173T>C (p.Ser391=)	not provided [RCV002701435]	likely benign	18	44950513	44950513	Human		name
155914260	CV2026227	single nucleotide variant	NM_015559.3(SETBP1):c.1911G>T (p.Pro637=)	not provided [RCV002750365]	likely benign	18	44951251	44951251	Human		name
156042511	CV2026453	single nucleotide variant	NM_015559.3(SETBP1):c.170C>T (p.Pro57Leu)	not provided [RCV002736238]	likely benign	18	44701516	44701516	Human		name
156107085	CV2038568	single nucleotide variant	NM_015559.3(SETBP1):c.2361T>C (p.Asn787=)	not provided [RCV002761539]	likely benign	18	44951701	44951701	Human		name
156119586	CV2039353	single nucleotide variant	NM_015559.3(SETBP1):c.163A>G (p.Met55Val)	not provided [RCV002800171]	uncertain significance	18	44701509	44701509	Human		name
156188575	CV2052215	single nucleotide variant	NM_015559.3(SETBP1):c.2664C>T (p.Ser888=)	not provided [RCV002828537]	likely benign	18	44952004	44952004	Human		name
156224700	CV2064238	duplication	NM_015559.3(SETBP1):c.514dup (p.Ser172fs)	not provided [RCV002829824]	pathogenic	18	44869256	44869257	Human		name
155969356	CV2066242	single nucleotide variant	NM_015559.3(SETBP1):c.290A>T (p.Asn97Ile)	not provided [RCV002842005]	uncertain significance	18	44701636	44701636	Human		name
156046117	CV2068075	single nucleotide variant	NM_015559.3(SETBP1):c.1809G>A (p.Glu603=)	not provided [RCV002846273]	likely benign	18	44951149	44951149	Human		name
156050024	CV2068332	single nucleotide variant	NM_015559.3(SETBP1):c.2988G>A (p.Val996=)	not provided [RCV002846402]	benign	18	44952328	44952328	Human		name
156216068	CV2070664	single nucleotide variant	NM_015559.3(SETBP1):c.113T>C (p.Leu38Ser)	not provided [RCV002829501]	uncertain significance	18	44701459	44701459	Human		name
156296571	CV2073526	single nucleotide variant	NM_015559.3(SETBP1):c.2961G>A (p.Arg987=)	not provided [RCV002833427]	likely benign	18	44952301	44952301	Human		name
156203435	CV2076586	single nucleotide variant	NM_015559.3(SETBP1):c.1848G>A (p.Glu616=)	not provided [RCV002852548]	likely benign	18	44951188	44951188	Human		name
155969545	CV2077120	single nucleotide variant	NM_015559.3(SETBP1):c.2694C>T (p.Ser898=)	not provided [RCV002863247]	likely benign	18	44952034	44952034	Human		name
155909009	CV2077733	single nucleotide variant	NM_015559.3(SETBP1):c.2142T>C (p.Asn714=)	not provided [RCV002858342]	likely benign	18	44951482	44951482	Human		name
156213098	CV2080185	single nucleotide variant	NM_015559.3(SETBP1):c.2106A>C (p.Ala702=)	not provided [RCV002875560]	likely benign	18	44951446	44951446	Human		name
156219645	CV2087628	duplication	NM_015559.3(SETBP1):c.440dup (p.Asn147fs)	not provided [RCV002875818]	pathogenic	18	44701780	44701781	Human		name
155996572	CV2091935	single nucleotide variant	NM_015559.3(SETBP1):c.154G>A (p.Gly52Arg)	not provided [RCV002908415]	benign	18	44701500	44701500	Human		name
156110477	CV2092859	single nucleotide variant	NM_015559.3(SETBP1):c.2700C>T (p.Asp900=)	not provided [RCV002913755]	likely benign	18	44952040	44952040	Human		name
155985670	CV2097683	single nucleotide variant	NM_015559.3(SETBP1):c.2169T>C (p.Ile723=)	not provided [RCV002882145]	likely benign	18	44951509	44951509	Human		name
156193912	CV2099112	single nucleotide variant	NM_015559.3(SETBP1):c.2388A>G (p.Glu796=)	not provided [RCV002917542]	likely benign	18	44951728	44951728	Human		name
156130309	CV2100865	single nucleotide variant	NM_015559.3(SETBP1):c.2127G>A (p.Leu709=)	not provided [RCV002889919]	likely benign	18	44951467	44951467	Human		name
156207905	CV2103856	single nucleotide variant	NM_015559.3(SETBP1):c.2046G>A (p.Leu682=)	not provided [RCV002931938]	likely benign	18	44951386	44951386	Human		name
155960756	CV2131806	single nucleotide variant	NM_015559.3(SETBP1):c.1461G>A (p.Glu487=)	not provided [RCV002995142]	likely benign	18	44950801	44950801	Human		name
156100539	CV2132609	single nucleotide variant	NM_015559.3(SETBP1):c.1788C>T (p.Leu596=)	not provided [RCV002979971]	likely benign	18	44951128	44951128	Human		name
156266062	CV2134993	single nucleotide variant	NM_015559.3(SETBP1):c.2913C>T (p.His971=)	not provided [RCV002988650]	benign	18	44952253	44952253	Human		name
155985288	CV2136858	single nucleotide variant	NM_015559.3(SETBP1):c.1524G>A (p.Thr508=)	not provided [RCV002996303]	likely benign	18	44950864	44950864	Human		name
155998580	CV2153066	single nucleotide variant	NM_015559.3(SETBP1):c.2055C>T (p.Ser685=)	not provided [RCV002996909]	likely benign	18	44951395	44951395	Human		name
156200527	CV2153879	single nucleotide variant	NM_015559.3(SETBP1):c.2373C>T (p.Ser791=)	not provided [RCV003006308]	likely benign	18	44951713	44951713	Human		name
156353151	CV2157796	single nucleotide variant	NM_015559.3(SETBP1):c.1953A>G (p.Lys651=)	not provided [RCV003031029]	benign	18	44951293	44951293	Human		name
156105985	CV2160936	single nucleotide variant	NM_015559.3(SETBP1):c.240G>T (p.Trp80Cys)	not provided [RCV003038757]	uncertain significance	18	44701586	44701586	Human		name
156217931	CV2173008	single nucleotide variant	NM_015559.3(SETBP1):c.1863G>A (p.Lys621=)	not provided [RCV003025075]	likely benign	18	44951203	44951203	Human		name
156323670	CV2173699	single nucleotide variant	NM_015559.3(SETBP1):c.265C>A (p.Gln89Lys)	not provided [RCV003046786]	uncertain significance	18	44701611	44701611	Human		name
156027436	CV2185694	single nucleotide variant	NM_015559.3(SETBP1):c.1827C>T (p.Pro609=)	not provided [RCV003036032]	likely benign	18	44951167	44951167	Human		name
156369517	CV2190634	single nucleotide variant	NM_015559.3(SETBP1):c.2367C>T (p.Asn789=)	not provided [RCV003066181]	likely benign	18	44951707	44951707	Human		name
156048697	CV2315790	single nucleotide variant	NM_015559.3(SETBP1):c.161G>C (p.Arg54Pro)	Inborn genetic diseases [RCV002924337]	uncertain significance	18	44701507	44701507	Human	1	name
401865502	CV2749248	single nucleotide variant	NM_015559.3(SETBP1):c.1872G>A (p.Lys624=)	not specified [RCV003330446]	likely benign	18	44951212	44951212	Human		name
401934989	CV2800656	single nucleotide variant	NM_015559.3(SETBP1):c.2493A>C (p.Pro831=)	SETBP1-related disorder [RCV004538997]	uncertain significance	18	44951833	44951833	Human		name , trait , alternate_id
402514329	CV2855531	single nucleotide variant	NM_015559.3(SETBP1):c.1317T>C (p.Ser439=)	not provided [RCV003547277]	likely benign	18	44950657	44950657	Human		name
405041484	CV2862766	single nucleotide variant	NM_015559.3(SETBP1):c.210T>G (p.Asp70Glu)	not provided [RCV003579145]	benign	18	44701556	44701556	Human		name
405216803	CV2872593	single nucleotide variant	NM_015559.3(SETBP1):c.2616G>A (p.Gly872=)	not provided [RCV003553328]	likely benign	18	44951956	44951956	Human		name
405229270	CV2904716	single nucleotide variant	NM_015559.3(SETBP1):c.1554G>T (p.Leu518=)	not provided [RCV003555217]	likely benign	18	44950894	44950894	Human		name
405208621	CV2909345	single nucleotide variant	NM_015559.3(SETBP1):c.155G>A (p.Gly52Glu)	not provided [RCV003566837]	likely benign	18	44701501	44701501	Human		name
405215113	CV2925327	single nucleotide variant	NM_015559.3(SETBP1):c.2139T>C (p.Ile713=)	not provided [RCV003567682]	likely benign	18	44951479	44951479	Human		name
405156955	CV2960945	single nucleotide variant	NM_015559.3(SETBP1):c.1341A>G (p.Val447=)	not provided [RCV003670453]	likely benign	18	44950681	44950681	Human		name
405135719	CV2963026	single nucleotide variant	NM_015559.3(SETBP1):c.244G>T (p.Ala82Ser)	not provided [RCV003668773]	conflicting interpretations of pathogenicity\|uncertain significance	18	44701590	44701590	Human		name
405246922	CV2966501	single nucleotide variant	NM_015559.3(SETBP1):c.2310G>T (p.Ala770=)	not provided [RCV003685540]	likely benign	18	44951650	44951650	Human		name
405194883	CV2975217	single nucleotide variant	NM_015559.3(SETBP1):c.2583T>C (p.Ser861=)	not provided [RCV003677482]	likely benign	18	44951923	44951923	Human		name
405228015	CV2980625	single nucleotide variant	NM_015559.3(SETBP1):c.1878A>G (p.Arg626=)	not provided [RCV003711040]	likely benign	18	44951218	44951218	Human		name
405213983	CV2985119	single nucleotide variant	NM_015559.3(SETBP1):c.240G>A (p.Trp80Ter)	not provided [RCV003709073]	pathogenic	18	44701586	44701586	Human		name
404983993	CV2986637	single nucleotide variant	NM_015559.3(SETBP1):c.175G>A (p.Glu59Lys)	not provided [RCV003691608]	uncertain significance	18	44701521	44701521	Human		name
402503038	CV3007057	single nucleotide variant	NM_015559.3(SETBP1):c.2070G>A (p.Leu690=)	not provided [RCV003688697]	likely benign	18	44951410	44951410	Human		name
402522565	CV3011349	single nucleotide variant	NM_015559.3(SETBP1):c.2727C>G (p.Thr909=)	not provided [RCV003716542]	likely benign	18	44952067	44952067	Human		name
405039553	CV3013607	single nucleotide variant	NM_015559.3(SETBP1):c.1671G>A (p.Glu557=)	not provided [RCV003696217]	likely benign	18	44951011	44951011	Human		name
405085295	CV3028338	single nucleotide variant	NM_015559.3(SETBP1):c.134G>C (p.Gly45Ala)	not provided [RCV003699356]	uncertain significance	18	44701480	44701480	Human		name
405208658	CV3037231	single nucleotide variant	NM_015559.3(SETBP1):c.1128T>C (p.Ser376=)	not provided [RCV003708342]	likely benign	18	44950468	44950468	Human		name
402504944	CV3038834	single nucleotide variant	NM_015559.3(SETBP1):c.1401G>A (p.Leu467=)	not provided [RCV003715047]	benign	18	44950741	44950741	Human		name
405093246	CV3045559	single nucleotide variant	NM_015559.3(SETBP1):c.1188C>T (p.Asp396=)	not provided [RCV003717973]	likely benign	18	44950528	44950528	Human		name
405252612	CV3047385	single nucleotide variant	NM_015559.3(SETBP1):c.178G>A (p.Glu60Lys)	not provided [RCV003722277]	uncertain significance	18	44701524	44701524	Human		name
405145661	CV3052443	single nucleotide variant	NM_015559.3(SETBP1):c.2676C>T (p.Tyr892=)	not provided [RCV003726037]	likely benign	18	44952016	44952016	Human		name
405244900	CV3054797	single nucleotide variant	NM_015559.3(SETBP1):c.2985G>T (p.Pro995=)	not provided [RCV003720126]	likely benign	18	44952325	44952325	Human		name
405220687	CV3059979	single nucleotide variant	NM_015559.3(SETBP1):c.289A>G (p.Asn97Asp)	not provided [RCV003733259]	likely benign	18	44701635	44701635	Human		name
405150145	CV3063656	single nucleotide variant	NM_015559.3(SETBP1):c.2068C>T (p.Leu690=)	not provided [RCV003726358]	likely benign	18	44951408	44951408	Human		name
405193294	CV3066122	single nucleotide variant	NM_015559.3(SETBP1):c.230G>A (p.Ser77Asn)	not provided [RCV003729850]	likely benign	18	44701576	44701576	Human		name
405234874	CV3071186	single nucleotide variant	NM_015559.3(SETBP1):c.1416G>A (p.Glu472=)	not provided [RCV003735702]	benign	18	44950756	44950756	Human		name
405243273	CV3074834	single nucleotide variant	NM_015559.3(SETBP1):c.1746A>G (p.Pro582=)	not provided [RCV003737761]	likely benign	18	44951086	44951086	Human		name
405200969	CV3168728	single nucleotide variant	NM_015559.3(SETBP1):c.224C>T (p.Ala75Val)	Inborn genetic diseases [RCV004953604]\|not provided [RCV003860666]	benign\|uncertain significance	18	44701570	44701570	Human	1	name
405213289	CV3169874	single nucleotide variant	NM_015559.3(SETBP1):c.2826G>A (p.Arg942=)	not provided [RCV003862478]	likely benign	18	44952166	44952166	Human		name
404979490	CV3183214	single nucleotide variant	NM_015559.3(SETBP1):c.185A>T (p.Glu62Val)	not provided [RCV003880237]	uncertain significance	18	44701531	44701531	Human		name
405267675	CV3186887	single nucleotide variant	NM_015559.3(SETBP1):c.274T>A (p.Ser92Thr)	not provided [RCV003886970]	uncertain significance	18	44701620	44701620	Human		name
405257508	CV3195275	single nucleotide variant	NM_015559.3(SETBP1):c.1284G>A (p.Val428=)	SETBP1-related disorder [RCV004534644]	likely benign	18	44950624	44950624	Human		name , trait , alternate_id
405267413	CV3219288	single nucleotide variant	NM_015559.3(SETBP1):c.1089C>T (p.Asp363=)	SETBP1-related disorder [RCV004540803]	likely benign	18	44950429	44950429	Human		name , trait , alternate_id
11619718	CV331285	single nucleotide variant	NM_015559.3(SETBP1):c.1491G>A (p.Pro497=)	SETBP1-related disorder [RCV004537828]\|Schinzel-Giedion syndrome [RCV002487440]\|Schinzel-Giedion syndrome [RCV003316488]\|not provided [RCV000870685]\|not specified [RCV001723911]	benign\|likely benign	18	44950831	44950831	Human	2	name , alternate_id
11661145	CV331289	single nucleotide variant	NM_015559.3(SETBP1):c.2358C>T (p.Ser786=)	Schinzel-Giedion syndrome [RCV000373845]\|not provided [RCV002057446]	likely benign\|uncertain significance	18	44951698	44951698	Human	1	name
11615087	CV331292	single nucleotide variant	NM_015559.3(SETBP1):c.2607C>T (p.Ser869=)	Schinzel-Giedion syndrome [RCV003316489]\|not provided [RCV000964661]	benign\|likely benign	18	44951947	44951947	Human	1	name
11631153	CV347014	single nucleotide variant	NM_015559.3(SETBP1):c.1158C>T (p.Asn386=)	SETBP1-related disorder [RCV004537827]\|Schinzel-Giedion syndrome [RCV003316487]\|not provided [RCV000872050]	benign\|likely benign	18	44950498	44950498	Human	2	name , alternate_id
11631376	CV347019	single nucleotide variant	NM_015559.3(SETBP1):c.1552C>T (p.Leu518=)	not provided [RCV002093600]	likely benign\|uncertain significance	18	44950892	44950892	Human		name
11628958	CV348263	single nucleotide variant	NM_015559.3(SETBP1):c.1137G>A (p.Glu379=)	not provided [RCV002218977]	likely benign\|uncertain significance	18	44950477	44950477	Human		name
11655345	CV348267	single nucleotide variant	NM_015559.3(SETBP1):c.1263A>G (p.Arg421=)	not provided [RCV003054573]	benign\|uncertain significance	18	44950603	44950603	Human		name
11626510	CV348273	single nucleotide variant	NM_015559.3(SETBP1):c.1581T>G (p.Ala527=)	Schinzel-Giedion syndrome [RCV005235260]\|not provided [RCV000877496]	benign\|likely benign	18	44950921	44950921	Human	1	name
11629861	CV348277	single nucleotide variant	NM_015559.3(SETBP1):c.2310G>A (p.Ala770=)	Schinzel-Giedion syndrome [RCV005235636]\|not provided [RCV002115050]	benign\|likely benign	18	44951650	44951650	Human	1	name
408390582	CV3519429	single nucleotide variant	NM_015559.3(SETBP1):c.296C>G (p.Thr99Arg)	not provided [RCV004762738]	uncertain significance	18	44701642	44701642	Human		name
408393526	CV3526176	single nucleotide variant	NM_015559.3(SETBP1):c.239G>A (p.Trp80Ter)	Intellectual disability, autosomal dominant 29 [RCV004771608]	likely pathogenic	18	44701585	44701585	Human	1	name
596921684	CV3535310	deletion	NM_015559.3(SETBP1):c.334del (p.Arg112fs)	Intellectual disability, autosomal dominant 29 [RCV004784865]	pathogenic	18	44701680	44701680	Human	1	name
597845837	CV3736382	single nucleotide variant	NM_015559.3(SETBP1):c.1821C>G (p.Thr607=)	not provided [RCV005059960]	benign	18	44951161	44951161	Human		name
597846139	CV3736421	single nucleotide variant	NM_015559.3(SETBP1):c.1893G>A (p.Lys631=)	not provided [RCV005059999]	likely benign	18	44951233	44951233	Human		name
597931930	CV3742589	single nucleotide variant	NM_015559.3(SETBP1):c.1674C>T (p.Pro558=)	not provided [RCV005076028]	likely benign	18	44951014	44951014	Human		name
597897243	CV3744593	single nucleotide variant	NM_015559.3(SETBP1):c.2976C>T (p.His992=)	not provided [RCV005071872]	likely benign	18	44952316	44952316	Human		name
597840869	CV3765081	single nucleotide variant	NM_015559.3(SETBP1):c.1776G>A (p.Lys592=)	not provided [RCV005115098]	likely benign	18	44951116	44951116	Human		name
597847126	CV3768322	single nucleotide variant	NM_015559.3(SETBP1):c.1632A>T (p.Arg544=)	not provided [RCV005122701]	likely benign	18	44950972	44950972	Human		name
597851422	CV3782266	single nucleotide variant	NM_015559.3(SETBP1):c.1854T>A (p.Pro618=)	not provided [RCV005126491]	likely benign	18	44951194	44951194	Human		name
597852655	CV3784556	single nucleotide variant	NM_015559.3(SETBP1):c.2298G>A (p.Gln766=)	not provided [RCV005127607]	benign	18	44951638	44951638	Human		name
597850347	CV3784799	single nucleotide variant	NM_015559.3(SETBP1):c.2730C>T (p.Ser910=)	not provided [RCV005125578]	likely benign	18	44952070	44952070	Human		name
597859185	CV3789036	single nucleotide variant	NM_015559.3(SETBP1):c.1278G>C (p.Ala426=)	not provided [RCV005133499]	likely benign	18	44950618	44950618	Human		name
597864648	CV3795285	single nucleotide variant	NM_015559.3(SETBP1):c.184G>A (p.Glu62Lys)	not provided [RCV005138977]	uncertain significance	18	44701530	44701530	Human		name
597867076	CV3802068	single nucleotide variant	NM_015559.3(SETBP1):c.1278G>A (p.Ala426=)	not provided [RCV005141860]	likely benign	18	44950618	44950618	Human		name
597876367	CV3809763	single nucleotide variant	NM_015559.3(SETBP1):c.286G>A (p.Ala96Thr)	not provided [RCV005151484]	uncertain significance	18	44701632	44701632	Human		name
597874776	CV3810627	single nucleotide variant	NM_015559.3(SETBP1):c.145C>T (p.Pro49Ser)	not provided [RCV005149896]	uncertain significance	18	44701491	44701491	Human		name
597903823	CV3826526	single nucleotide variant	NM_015559.3(SETBP1):c.2364C>T (p.Gly788=)	not provided [RCV005178223]	likely benign	18	44951704	44951704	Human		name
597882174	CV3827183	single nucleotide variant	NM_015559.3(SETBP1):c.1065C>A (p.Val355=)	not provided [RCV005157196]	likely benign	18	44950405	44950405	Human		name
597895541	CV3831013	single nucleotide variant	NM_015559.3(SETBP1):c.2043C>T (p.Ile681=)	not provided [RCV005170410]	likely benign	18	44951383	44951383	Human		name
597897526	CV3831096	single nucleotide variant	NM_015559.3(SETBP1):c.1152G>A (p.Arg384=)	not provided [RCV005172477]	likely benign	18	44950492	44950492	Human		name
597916722	CV3838246	single nucleotide variant	NM_015559.3(SETBP1):c.2649G>A (p.Glu883=)	not provided [RCV005191621]	likely benign	18	44951989	44951989	Human		name
597913686	CV3844197	single nucleotide variant	NM_015559.3(SETBP1):c.205G>T (p.Val69Leu)	not provided [RCV005188806]	uncertain significance	18	44701551	44701551	Human		name
597906291	CV3845503	single nucleotide variant	NM_015559.3(SETBP1):c.2793A>G (p.Glu931=)	not provided [RCV005181313]	benign	18	44952133	44952133	Human		name
597927672	CV3851408	deletion	NM_015559.3(SETBP1):c.626del (p.Lys209fs)	not provided [RCV005202185]	pathogenic	18	44949964	44949964	Human		name
617149831	CV4017328	single nucleotide variant	NM_015559.3(SETBP1):c.154G>C (p.Gly52Arg)	not provided [RCV005416985]	uncertain significance	18	44701500	44701500	Human		name
12905840	CV413485	single nucleotide variant	NM_015559.3(SETBP1):c.144C>G (p.Ile48Met)	SETBP1-related disorder [RCV004735569]\|not provided [RCV000488064]	uncertain significance	18	44701490	44701490	Human	1	name , alternate_id
13706169	CV537307	single nucleotide variant	NM_015559.3(SETBP1):c.2934C>T (p.His978=)	Schinzel-Giedion syndrome [RCV002493072]\|not provided [RCV000658806]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	44952274	44952274	Human	1	name
14396010	CV611888	single nucleotide variant	NM_015559.3(SETBP1):c.265C>T (p.Gln89Ter)	Intellectual disability, autosomal dominant 29 [RCV001265338]\|not provided [RCV000760733]	pathogenic\|likely pathogenic	18	44701611	44701611	Human	1	name
15113562	CV694272	single nucleotide variant	NM_015559.3(SETBP1):c.1119C>T (p.Ser373=)	not provided [RCV000872765]	likely benign	18	44950459	44950459	Human		name
15108977	CV694273	single nucleotide variant	NM_015559.3(SETBP1):c.1248T>C (p.His416=)	SETBP1-related disorder [RCV004735848]\|not provided [RCV000871806]\|not specified [RCV001817012]	benign	18	44950588	44950588	Human	1	name , alternate_id
15119893	CV694274	single nucleotide variant	NM_015559.3(SETBP1):c.1734T>C (p.Thr578=)	SETBP1-related disorder [RCV004541725]\|not provided [RCV000873961]	likely benign	18	44951074	44951074	Human	1	name , alternate_id
15147910	CV694276	single nucleotide variant	NM_015559.3(SETBP1):c.2571C>T (p.Ser857=)	SETBP1-related disorder [RCV004530886]\|not provided [RCV000878854]\|not specified [RCV004997459]	benign\|likely benign	18	44951911	44951911	Human	1	name , alternate_id
15106447	CV694277	single nucleotide variant	NM_015559.3(SETBP1):c.2709G>A (p.Glu903=)	not provided [RCV000871299]	likely benign	18	44952049	44952049	Human		name
15182416	CV704601	single nucleotide variant	NM_015559.3(SETBP1):c.1617T>A (p.Pro539=)	not provided [RCV000952212]	likely benign	18	44950957	44950957	Human		name
15181654	CV704602	single nucleotide variant	NM_015559.3(SETBP1):c.2640C>T (p.Asp880=)	not provided [RCV000952028]	likely benign	18	44951980	44951980	Human		name
15176815	CV704603	single nucleotide variant	NM_015559.3(SETBP1):c.2718G>T (p.Pro906=)	not provided [RCV000950910]	likely benign	18	44952058	44952058	Human		name
15109323	CV715978	single nucleotide variant	NM_015559.3(SETBP1):c.2500C>T (p.Leu834=)	not provided [RCV000960674]	likely benign	18	44951840	44951840	Human		name
15169021	CV727717	single nucleotide variant	NM_015559.3(SETBP1):c.1059T>C (p.Asp353=)	not provided [RCV000883183]	likely benign	18	44950399	44950399	Human		name
15106509	CV727718	single nucleotide variant	NM_015559.3(SETBP1):c.2721C>T (p.Ser907=)	not provided [RCV000893296]	likely benign	18	44952061	44952061	Human		name
15153640	CV741363	single nucleotide variant	NM_015559.3(SETBP1):c.1965C>T (p.Leu655=)	not provided [RCV000901800]	likely benign	18	44951305	44951305	Human		name
15114091	CV741364	single nucleotide variant	NM_015559.3(SETBP1):c.2601C>T (p.Ser867=)	not provided [RCV000894790]	likely benign	18	44951941	44951941	Human		name
15176047	CV772135	single nucleotide variant	NM_015559.3(SETBP1):c.2703C>T (p.Asn901=)	not provided [RCV000928826]	likely benign	18	44952043	44952043	Human		name
127254278	CV1105828	single nucleotide variant	NM_015559.3(SETBP1):c.3891G>A (p.Gly1297=)	not provided [RCV001437192]	likely benign	18	44953231	44953231	Human		name
150424341	CV1185365	single nucleotide variant	NM_015559.3(SETBP1):c.757G>A (p.Ala253Thr)	not provided [RCV001556532]	likely benign\|conflicting interpretations of pathogenicity	18	44950097	44950097	Human		name
150427151	CV1188647	single nucleotide variant	NM_015559.3(SETBP1):c.658A>C (p.Met220Leu)	not provided [RCV001560554]	likely benign	18	44949998	44949998	Human		name
150449112	CV1202399	single nucleotide variant	NM_015559.3(SETBP1):c.3882C>T (p.Asp1294=)	SETBP1-related disorder [RCV004542031]\|not provided [RCV001584996]	likely benign	18	44953222	44953222	Human	1	name , alternate_id
150463696	CV1206769	deletion	NM_015559.3(SETBP1):c.1329del (p.Met443fs)	not provided [RCV001587170]	pathogenic	18	44950669	44950669	Human		name
150491699	CV1225346	single nucleotide variant	NM_015559.3(SETBP1):c.4368T>C (p.Arg1456=)	SETBP1-related disorder [RCV004542050]\|not provided [RCV001618861]	benign\|likely benign	18	45063275	45063275	Human	1	name , alternate_id
150506215	CV1226291	single nucleotide variant	NM_015559.3(SETBP1):c.575A>G (p.His192Arg)	SETBP1-related disorder [RCV004542053]\|not provided [RCV001635659]	benign\|likely benign	18	44949915	44949915	Human	1	name , alternate_id
150482336	CV1247438	single nucleotide variant	NM_015559.3(SETBP1):c.607G>A (p.Gly203Ser)	SETBP1-related disorder [RCV004542068]\|not provided [RCV001673263]	benign\|likely benign	18	44949947	44949947	Human	1	name , alternate_id
150471113	CV1259046	single nucleotide variant	NM_015559.3(SETBP1):c.4728A>G (p.Glu1576=)	not provided [RCV001684290]	benign\|likely benign	18	45063635	45063635	Human		name
150450240	CV1273743	single nucleotide variant	NM_015559.3(SETBP1):c.3645C>T (p.Ser1215=)	not provided [RCV001691843]	benign\|likely benign	18	44952985	44952985	Human		name
150528976	CV1288593	single nucleotide variant	NM_015559.3(SETBP1):c.4588C>T (p.Leu1530=)	not provided [RCV001727061]	likely benign	18	45063495	45063495	Human		name
150520979	CV1290758	single nucleotide variant	NM_015559.3(SETBP1):c.4566G>A (p.Leu1522=)	SETBP1-related disorder [RCV004536272]\|not provided [RCV001732425]	likely benign	18	45063473	45063473	Human	1	name , alternate_id
150551510	CV1297407	single nucleotide variant	NM_015559.3(SETBP1):c.352A>G (p.Lys118Glu)	not provided [RCV001767089]	uncertain significance	18	44701698	44701698	Human		name
150542784	CV1302781	single nucleotide variant	NM_015559.3(SETBP1):c.695C>T (p.Thr232Ile)	not provided [RCV001761408]	uncertain significance	18	44950035	44950035	Human		name
150548413	CV1316317	single nucleotide variant	NM_015559.3(SETBP1):c.827A>G (p.Gln276Arg)	not provided [RCV001786119]	uncertain significance	18	44950167	44950167	Human		name
151755938	CV1334915	single nucleotide variant	NM_015559.3(SETBP1):c.427C>T (p.Arg143Cys)	Intellectual disability, autosomal dominant 29 [RCV001843873]\|not provided [RCV003120718]	uncertain significance	18	44701773	44701773	Human	1	name
151758178	CV1349814	single nucleotide variant	NM_015559.3(SETBP1):c.946G>A (p.Asp316Asn)	not provided [RCV001986961]	uncertain significance	18	44950286	44950286	Human		name
151824254	CV1352361	single nucleotide variant	NM_015559.3(SETBP1):c.583A>C (p.Thr195Pro)	not provided [RCV002013689]	benign\|uncertain significance	18	44949923	44949923	Human		name
151801507	CV1354209	single nucleotide variant	NM_015559.3(SETBP1):c.535C>T (p.Pro179Ser)	not provided [RCV001867168]	uncertain significance	18	44869278	44869278	Human		name
151796206	CV1355971	single nucleotide variant	NM_015559.3(SETBP1):c.571C>T (p.Leu191Phe)	not provided [RCV002027667]	likely benign\|uncertain significance	18	44949911	44949911	Human		name
151891363	CV1356660	single nucleotide variant	NM_015559.3(SETBP1):c.599A>T (p.Asp200Val)	not provided [RCV001943346]	benign\|uncertain significance	18	44949939	44949939	Human		name
151766205	CV1359067	single nucleotide variant	NM_015559.3(SETBP1):c.911G>A (p.Ser304Asn)	not provided [RCV001970722]	likely benign\|uncertain significance	18	44950251	44950251	Human		name
151877427	CV1360445	single nucleotide variant	NM_015559.3(SETBP1):c.794G>A (p.Gly265Asp)	not provided [RCV001907241]	benign\|uncertain significance	18	44950134	44950134	Human		name
151748524	CV1362568	single nucleotide variant	NM_015559.3(SETBP1):c.752T>A (p.Ile251Asn)	not provided [RCV001968926]	likely benign	18	44950092	44950092	Human		name
151809018	CV1362864	single nucleotide variant	NM_015559.3(SETBP1):c.868G>T (p.Ala290Ser)	not provided [RCV001991642]	benign\|uncertain significance	18	44950208	44950208	Human		name
151748250	CV1367600	single nucleotide variant	NM_015559.3(SETBP1):c.961G>C (p.Gly321Arg)	Inborn genetic diseases [RCV004953176]\|not provided [RCV001894046]	uncertain significance	18	44950301	44950301	Human	1	name
151789083	CV1377145	single nucleotide variant	NM_015559.3(SETBP1):c.552G>T (p.Arg184Ser)	not provided [RCV001898003]	benign\|uncertain significance	18	44949892	44949892	Human		name
151764181	CV1384541	single nucleotide variant	NM_015559.3(SETBP1):c.557A>G (p.Gln186Arg)	SETBP1-related disorder [RCV004538664]\|not provided [RCV001987611]	likely benign\|uncertain significance	18	44949897	44949897	Human	1	name , alternate_id
151887447	CV1386317	single nucleotide variant	NM_015559.3(SETBP1):c.913T>A (p.Ser305Thr)	not provided [RCV001942389]	uncertain significance	18	44950253	44950253	Human		name
151732054	CV1390015	single nucleotide variant	NM_015559.3(SETBP1):c.764A>G (p.Glu255Gly)	not provided [RCV001910973]	uncertain significance	18	44950104	44950104	Human		name
151719192	CV1421903	single nucleotide variant	NM_015559.3(SETBP1):c.928G>C (p.Gly310Arg)	not provided [RCV001909458]	uncertain significance	18	44950268	44950268	Human		name
151849916	CV1427802	single nucleotide variant	NM_015559.3(SETBP1):c.482A>G (p.Lys161Arg)	not provided [RCV001922637]	likely benign\|uncertain significance	18	44701828	44701828	Human		name
151745636	CV1428186	single nucleotide variant	NM_015559.3(SETBP1):c.928G>A (p.Gly310Arg)	Inborn genetic diseases [RCV004044285]\|not provided [RCV001926929]	likely benign\|uncertain significance	18	44950268	44950268	Human	1	name
151798949	CV1429992	single nucleotide variant	NM_015559.3(SETBP1):c.656A>G (p.His219Arg)	not provided [RCV001990770]	benign\|uncertain significance	18	44949996	44949996	Human		name
151724874	CV1437162	single nucleotide variant	NM_015559.3(SETBP1):c.3801C>T (p.Gly1267=)	not provided [RCV002004139]	benign\|uncertain significance	18	44953141	44953141	Human		name
151847620	CV1445489	single nucleotide variant	NM_015559.3(SETBP1):c.586G>A (p.Gly196Ser)	not provided [RCV001995546]	uncertain significance	18	44949926	44949926	Human		name
151799901	CV1445965	single nucleotide variant	NM_015559.3(SETBP1):c.667T>C (p.Ser223Pro)	not provided [RCV002011469]	uncertain significance	18	44950007	44950007	Human		name
151884502	CV1452668	single nucleotide variant	NM_015559.3(SETBP1):c.502G>A (p.Asp168Asn)	not provided [RCV002037564]	benign\|uncertain significance	18	44869245	44869245	Human		name
151853459	CV1457027	single nucleotide variant	NM_015559.3(SETBP1):c.698A>G (p.Gln233Arg)	Inborn genetic diseases [RCV004953237]\|not provided [RCV001883041]	uncertain significance	18	44950038	44950038	Human	1	name
151736601	CV1466050	single nucleotide variant	NM_015559.3(SETBP1):c.499A>G (p.Ser167Gly)	not provided [RCV002041783]	uncertain significance	18	44869242	44869242	Human		name
151796550	CV1476425	single nucleotide variant	NM_015559.3(SETBP1):c.989C>T (p.Thr330Met)	not provided [RCV001931916]	likely benign\|uncertain significance	18	44950329	44950329	Human		name
151819060	CV1513911	single nucleotide variant	NM_015559.3(SETBP1):c.433G>A (p.Gly145Arg)	Inborn genetic diseases [RCV003375474]\|not provided [RCV001933963]	likely benign\|uncertain significance	18	44701779	44701779	Human	1	name
152130613	CV1519810	single nucleotide variant	NM_015559.3(SETBP1):c.3969G>A (p.Glu1323=)	not provided [RCV002155481]	likely benign	18	44953309	44953309	Human		name
152109234	CV1520214	single nucleotide variant	NM_015559.3(SETBP1):c.3399C>T (p.Asn1133=)	not provided [RCV002134267]	likely benign	18	44952739	44952739	Human		name
152099842	CV1524685	single nucleotide variant	NM_015559.3(SETBP1):c.3924G>A (p.Thr1308=)	not provided [RCV002172949]	benign	18	44953264	44953264	Human		name
152038515	CV1525106	single nucleotide variant	NM_015559.3(SETBP1):c.4680C>T (p.Pro1560=)	not provided [RCV002165335]	likely benign	18	45063587	45063587	Human		name
152038587	CV1529825	single nucleotide variant	NM_015559.3(SETBP1):c.3588G>A (p.Glu1196=)	not provided [RCV002187907]	likely benign	18	44952928	44952928	Human		name
152059965	CV1532814	single nucleotide variant	NM_015559.3(SETBP1):c.4344C>T (p.Asn1448=)	not provided [RCV002208533]	benign	18	45063251	45063251	Human		name
152083979	CV1533387	single nucleotide variant	NM_015559.3(SETBP1):c.3519T>A (p.Leu1173=)	not provided [RCV002093224]	likely benign	18	44952859	44952859	Human		name
152069634	CV1535450	single nucleotide variant	NM_015559.3(SETBP1):c.3780G>A (p.Thr1260=)	not provided [RCV002091408]	likely benign	18	44953120	44953120	Human		name
152137259	CV1538081	single nucleotide variant	NM_015559.3(SETBP1):c.4464G>A (p.Lys1488=)	SETBP1-related disorder [RCV004538793]\|not provided [RCV002177585]	likely benign	18	45063371	45063371	Human	1	name , alternate_id
152164813	CV1543615	single nucleotide variant	NM_015559.3(SETBP1):c.3111G>T (p.Gly1037=)	not provided [RCV002123881]	likely benign	18	44952451	44952451	Human		name
152073690	CV1551920	single nucleotide variant	NM_015559.3(SETBP1):c.4194G>A (p.Arg1398=)	not provided [RCV002075442]	likely benign	18	45063101	45063101	Human		name
152170944	CV1552483	single nucleotide variant	NM_015559.3(SETBP1):c.3819G>A (p.Thr1273=)	not provided [RCV002143287]	likely benign	18	44953159	44953159	Human		name
152067230	CV1557196	single nucleotide variant	NM_015559.3(SETBP1):c.4581G>A (p.Pro1527=)	not provided [RCV002191323]	likely benign	18	45063488	45063488	Human		name
152061170	CV1557616	single nucleotide variant	NM_015559.3(SETBP1):c.4161G>A (p.Thr1387=)	SETBP1-related disorder [RCV004734448]\|not provided [RCV002146793]	likely benign	18	45038645	45038645	Human	1	name , alternate_id
152078668	CV1557769	single nucleotide variant	NM_015559.3(SETBP1):c.4701G>A (p.Ser1567=)	not provided [RCV002170259]	likely benign	18	45063608	45063608	Human		name
152095447	CV1559433	single nucleotide variant	NM_015559.3(SETBP1):c.4650C>A (p.Gly1550=)	not provided [RCV002213297]	likely benign	18	45063557	45063557	Human		name
152093816	CV1561261	single nucleotide variant	NM_015559.3(SETBP1):c.3507C>T (p.Asn1169=)	not provided [RCV002094560]	likely benign	18	44952847	44952847	Human		name
152047017	CV1561539	single nucleotide variant	NM_015559.3(SETBP1):c.3711C>T (p.Ser1237=)	not provided [RCV002108460]	likely benign	18	44953051	44953051	Human		name
152138992	CV1562743	single nucleotide variant	NM_015559.3(SETBP1):c.4155A>C (p.Ala1385=)	not provided [RCV002100506]	likely benign	18	45038639	45038639	Human		name
152110934	CV1564148	single nucleotide variant	NM_015559.3(SETBP1):c.4164G>A (p.Ser1388=)	not provided [RCV002174326]	likely benign	18	45038648	45038648	Human		name
152067296	CV1566811	single nucleotide variant	NM_015559.3(SETBP1):c.4527C>T (p.Ile1509=)	not provided [RCV002091097]	likely benign	18	45063434	45063434	Human		name
152073945	CV1570314	single nucleotide variant	NM_015559.3(SETBP1):c.4254C>A (p.Thr1418=)	not provided [RCV002210344]	likely benign	18	45063161	45063161	Human		name
152069453	CV1570998	single nucleotide variant	NM_015559.3(SETBP1):c.3186C>T (p.Asn1062=)	not provided [RCV002129414]	likely benign	18	44952526	44952526	Human		name
152127846	CV1572150	single nucleotide variant	NM_015559.3(SETBP1):c.4686G>A (p.Gln1562=)	not provided [RCV002217654]	likely benign	18	45063593	45063593	Human		name
152053147	CV1575000	single nucleotide variant	NM_015559.3(SETBP1):c.3441C>T (p.Leu1147=)	not provided [RCV002109228]	likely benign	18	44952781	44952781	Human		name
152166903	CV1577312	single nucleotide variant	NM_015559.3(SETBP1):c.3565C>A (p.Arg1189=)	not provided [RCV002204573]\|not specified [RCV003403676]	likely benign	18	44952905	44952905	Human		name
152122887	CV1587156	single nucleotide variant	NM_015559.3(SETBP1):c.681C>G (p.Asp227Glu)	not provided [RCV002135937]	benign	18	44950021	44950021	Human		name
152119288	CV1589181	single nucleotide variant	NM_015559.3(SETBP1):c.4167T>C (p.Asp1389=)	not provided [RCV002216560]	likely benign	18	45038651	45038651	Human		name
152153907	CV1592170	single nucleotide variant	NM_015559.3(SETBP1):c.452C>T (p.Thr151Met)	not provided [RCV002102661]	likely benign	18	44701798	44701798	Human		name
152092566	CV1593159	single nucleotide variant	NM_015559.3(SETBP1):c.3228G>A (p.Ser1076=)	not provided [RCV002094391]	likely benign	18	44952568	44952568	Human		name
152075394	CV1599582	single nucleotide variant	NM_015559.3(SETBP1):c.673A>G (p.Asn225Asp)	not provided [RCV002075662]	benign	18	44950013	44950013	Human		name
152146290	CV1599954	single nucleotide variant	NM_015559.3(SETBP1):c.3600G>A (p.Val1200=)	not provided [RCV002138848]	likely benign	18	44952940	44952940	Human		name
152137709	CV1603781	single nucleotide variant	NM_015559.3(SETBP1):c.3603T>C (p.Ser1201=)	not provided [RCV002218947]	likely benign	18	44952943	44952943	Human		name
152101054	CV1606816	single nucleotide variant	NM_015559.3(SETBP1):c.970G>C (p.Glu324Gln)	not provided [RCV002195554]	likely benign	18	44950310	44950310	Human		name
152051640	CV1607110	single nucleotide variant	NM_015559.3(SETBP1):c.4566G>T (p.Leu1522=)	not provided [RCV002109044]	likely benign	18	45063473	45063473	Human		name
152106992	CV1609732	single nucleotide variant	NM_015559.3(SETBP1):c.691G>A (p.Val231Ile)	not provided [RCV002116052]	benign	18	44950031	44950031	Human		name
152101664	CV1611037	single nucleotide variant	NM_015559.3(SETBP1):c.3486G>A (p.Arg1162=)	not provided [RCV002133348]	likely benign	18	44952826	44952826	Human		name
152045963	CV1614371	single nucleotide variant	NM_015559.3(SETBP1):c.4704C>T (p.Pro1568=)	not provided [RCV002166274]	likely benign	18	45063611	45063611	Human		name
152110484	CV1617705	single nucleotide variant	NM_015559.3(SETBP1):c.3594G>A (p.Pro1198=)	not provided [RCV002116480]	likely benign	18	44952934	44952934	Human		name
152118119	CV1620040	single nucleotide variant	NM_015559.3(SETBP1):c.4290G>T (p.Val1430=)	not provided [RCV002216414]	likely benign	18	45063197	45063197	Human		name
152158985	CV1620952	single nucleotide variant	NM_015559.3(SETBP1):c.3096G>T (p.Val1032=)	not provided [RCV002203104]	likely benign	18	44952436	44952436	Human		name
152150224	CV1625716	single nucleotide variant	NM_015559.3(SETBP1):c.4632A>G (p.Leu1544=)	not provided [RCV002139404]\|not specified [RCV004782883]	likely benign	18	45063539	45063539	Human		name
152078277	CV1626986	single nucleotide variant	NM_015559.3(SETBP1):c.3312C>T (p.Ser1104=)	not provided [RCV002112407]	likely benign	18	44952652	44952652	Human		name
152099291	CV1627228	single nucleotide variant	NM_015559.3(SETBP1):c.4305G>A (p.Lys1435=)	not provided [RCV002095297]	likely benign	18	45063212	45063212	Human		name
152048730	CV1627603	single nucleotide variant	NM_015559.3(SETBP1):c.3615G>A (p.Lys1205=)	not provided [RCV002108672]	likely benign	18	44952955	44952955	Human		name
152157351	CV1630530	single nucleotide variant	NM_015559.3(SETBP1):c.769G>A (p.Val257Met)	Inborn genetic diseases [RCV003025426]\|not provided [RCV002122599]	benign\|likely benign	18	44950109	44950109	Human	1	name
152114072	CV1639627	single nucleotide variant	NM_015559.3(SETBP1):c.4479G>A (p.Pro1493=)	not provided [RCV002197165]	likely benign	18	45063386	45063386	Human		name
152167481	CV1644702	single nucleotide variant	NM_015559.3(SETBP1):c.3984C>T (p.Asp1328=)	not provided [RCV002142173]	likely benign	18	44953324	44953324	Human		name
152101994	CV1645955	single nucleotide variant	NM_015559.3(SETBP1):c.4707G>A (p.Pro1569=)	not provided [RCV002173223]	likely benign	18	45063614	45063614	Human		name
152091803	CV1647020	single nucleotide variant	NM_015559.3(SETBP1):c.3540C>T (p.Gly1180=)	not provided [RCV002150687]	likely benign	18	44952880	44952880	Human		name
152094064	CV1648806	single nucleotide variant	NM_015559.3(SETBP1):c.4497C>T (p.Ala1499=)	SETBP1-related disorder [RCV004538771]\|not provided [RCV002078097]	likely benign	18	45063404	45063404	Human	1	name , alternate_id
152145783	CV1649418	single nucleotide variant	NM_015559.3(SETBP1):c.3009G>A (p.Pro1003=)	SETBP1-related disorder [RCV004543871]\|not provided [RCV002121015]	likely benign	18	44952349	44952349	Human	1	name , alternate_id
152160245	CV1650060	single nucleotide variant	NM_015559.3(SETBP1):c.4083G>A (p.Arg1361=)	not provided [RCV002159508]	likely benign	18	45038567	45038567	Human		name
152144447	CV1651672	single nucleotide variant	NM_015559.3(SETBP1):c.4095C>T (p.Ala1365=)	not provided [RCV002138606]	likely benign	18	45038579	45038579	Human		name
152147542	CV1656167	single nucleotide variant	NM_015559.3(SETBP1):c.3861G>A (p.Ser1287=)	not provided [RCV002220283]	likely benign	18	44953201	44953201	Human		name
152068384	CV1657195	single nucleotide variant	NM_015559.3(SETBP1):c.4599G>A (p.Pro1533=)	not provided [RCV002191456]	likely benign	18	45063506	45063506	Human		name
152060497	CV1659619	single nucleotide variant	NM_015559.3(SETBP1):c.818C>T (p.Thr273Met)	not provided [RCV002073617]	likely benign	18	44950158	44950158	Human		name
152163744	CV1662462	single nucleotide variant	NM_015559.3(SETBP1):c.4227C>T (p.Cys1409=)	not provided [RCV002141380]	likely benign	18	45063134	45063134	Human		name
152120246	CV1664974	single nucleotide variant	NM_015559.3(SETBP1):c.3948C>T (p.Ala1316=)	not provided [RCV002117761]	likely benign	18	44953288	44953288	Human		name
152101503	CV1667087	single nucleotide variant	NM_015559.3(SETBP1):c.872C>T (p.Pro291Leu)	not provided [RCV002214073]	uncertain significance	18	44950212	44950212	Human		name
152041298	CV1669847	single nucleotide variant	NM_015559.3(SETBP1):c.934C>T (p.Gln312Ter)	not provided [RCV002224749]	likely pathogenic	18	44950274	44950274	Human		name
9681813	CV167418	deletion	NM_015559.3(SETBP1):c.2464del (p.Ile822fs)	Intellectual disability, autosomal dominant 29 [RCV000144900]	pathogenic	18	44951803	44951803	Human	1	name
153301008	CV1688848	single nucleotide variant	NM_015559.3(SETBP1):c.812G>A (p.Gly271Glu)	Schinzel-Giedion syndrome [RCV002266576]	uncertain significance	18	44950152	44950152	Human	1	name
153347042	CV1691920	single nucleotide variant	NM_015559.3(SETBP1):c.973C>A (p.Pro325Thr)	not provided [RCV002273404]	uncertain significance	18	44950313	44950313	Human		name
153348818	CV1692863	single nucleotide variant	NM_015559.3(SETBP1):c.334C>T (p.Arg112Trp)	not provided [RCV002274719]	uncertain significance	18	44701680	44701680	Human		name
9683792	CV169420	single nucleotide variant	NM_015559.3(SETBP1):c.691G>C (p.Val231Leu)	Schinzel-Giedion syndrome [RCV003315937]\|not provided [RCV000713193]\|not specified [RCV000147472]	benign	18	44950031	44950031	Human	1	name
9683781	CV169428	single nucleotide variant	NM_015559.3(SETBP1):c.3825A>C (p.Ser1275=)	Schinzel-Giedion syndrome [RCV000147461]	uncertain significance	18	44953165	44953165	Human	1	name
9683782	CV169429	single nucleotide variant	NM_015559.3(SETBP1):c.3825A>G (p.Ser1275=)	Intellectual disability, autosomal dominant 29 [RCV001807092]\|Schinzel-Giedion syndrome [RCV001807091]\|not provided [RCV000713190]\|not specified [RCV000147462]	benign	18	44953165	44953165	Human	5	name
9683782	CV169429	single nucleotide variant	NM_015559.3(SETBP1):c.3825A>G (p.Ser1275=)	Intellectual disability, autosomal dominant 29 [RCV001807092]\|Schinzel-Giedion syndrome [RCV001807091]\|not provided [RCV000713190]\|not specified [RCV000147462]	benign	18	44953165	44953166	Human	5	name
9683783	CV169430	single nucleotide variant	NM_015559.3(SETBP1):c.3825A>T (p.Ser1275=)	Schinzel-Giedion syndrome [RCV000147463]	uncertain significance	18	44953165	44953165	Human	1	name
9683786	CV169433	single nucleotide variant	NM_015559.3(SETBP1):c.4290G>A (p.Val1430=)	not provided [RCV002055929]\|not specified [RCV000147466]	benign\|likely benign	18	45063197	45063197	Human		name
9683788	CV169435	single nucleotide variant	NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=)	Schinzel-Giedion syndrome [RCV000147468]\|not provided [RCV001618301]\|not specified [RCV000455335]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	45063461	45063461	Human	1	name
155265115	CV1695853	single nucleotide variant	NM_015559.3(SETBP1):c.527G>A (p.Gly176Glu)	SETBP1-related disorder [RCV004729134]\|not provided [RCV002280045]	uncertain significance	18	44869270	44869270	Human	1	name , alternate_id
155641859	CV1707160	single nucleotide variant	NM_015559.3(SETBP1):c.716C>G (p.Pro239Arg)	not provided [RCV002288090]	uncertain significance	18	44950056	44950056	Human		name
155795593	CV1861391	single nucleotide variant	NM_015559.3(SETBP1):c.689C>A (p.Pro230His)	not provided [RCV002469673]	uncertain significance	18	44950029	44950029	Human		name
155796764	CV1863000	duplication	NM_015559.3(SETBP1):c.2087dup (p.Glu697fs)	Intellectual disability, autosomal dominant 29 [RCV002470274]	pathogenic	18	44951422	44951423	Human	1	name
156389965	CV1872557	single nucleotide variant	NM_015559.3(SETBP1):c.548A>G (p.Glu183Gly)	not provided [RCV003051208]	likely benign	18	44949888	44949888	Human		name
155958185	CV1873499	single nucleotide variant	NM_015559.3(SETBP1):c.4584G>T (p.Pro1528=)	not provided [RCV003074540]	likely benign	18	45063491	45063491	Human		name
156358779	CV1873909	single nucleotide variant	NM_015559.3(SETBP1):c.881G>A (p.Ser294Asn)	not provided [RCV003065458]	uncertain significance	18	44950221	44950221	Human		name
155996913	CV1875959	single nucleotide variant	NM_015559.3(SETBP1):c.4203G>A (p.Arg1401=)	not provided [RCV003076389]	likely benign	18	45063110	45063110	Human		name
155942915	CV1878665	single nucleotide variant	NM_015559.3(SETBP1):c.4192A>C (p.Arg1398=)	not provided [RCV003073662]	likely benign	18	45063099	45063099	Human		name
156327752	CV1880988	single nucleotide variant	NM_015559.3(SETBP1):c.788C>T (p.Ala263Val)	not provided [RCV003063507]	likely benign	18	44950128	44950128	Human		name
156404905	CV1883598	single nucleotide variant	NM_015559.3(SETBP1):c.4479G>C (p.Pro1493=)	not provided [RCV003069858]	likely benign	18	45063386	45063386	Human		name
156138183	CV1888053	single nucleotide variant	NM_015559.3(SETBP1):c.3609G>A (p.Lys1203=)	not provided [RCV003082098]	likely benign	18	44952949	44952949	Human		name
156305343	CV1898561	single nucleotide variant	NM_015559.3(SETBP1):c.4050G>A (p.Lys1350=)	not provided [RCV003088144]	likely benign	18	45038534	45038534	Human		name
156336515	CV1906084	single nucleotide variant	NM_015559.3(SETBP1):c.3717C>A (p.Ala1239=)	not provided [RCV003090098]	likely benign	18	44953057	44953057	Human		name
156442540	CV1938764	single nucleotide variant	NM_015559.3(SETBP1):c.3348C>T (p.His1116=)	not provided [RCV003112885]	likely benign	18	44952688	44952688	Human		name
156442546	CV1938772	single nucleotide variant	NM_015559.3(SETBP1):c.4279C>T (p.Leu1427=)	not provided [RCV003112891]	likely benign	18	45063186	45063186	Human		name
156441522	CV1944183	single nucleotide variant	NM_015559.3(SETBP1):c.4053C>T (p.Asn1351=)	not provided [RCV003111849]	benign	18	45038537	45038537	Human		name
156084213	CV1956428	single nucleotide variant	NM_015559.3(SETBP1):c.909C>A (p.Ser303Arg)	not provided [RCV002570007]	uncertain significance	18	44950249	44950249	Human		name
156220152	CV1960150	single nucleotide variant	NM_015559.3(SETBP1):c.3363T>C (p.Val1121=)	not provided [RCV002575496]	likely benign	18	44952703	44952703	Human		name
156305378	CV1966277	single nucleotide variant	NM_015559.3(SETBP1):c.671C>G (p.Thr224Ser)	not provided [RCV002578422]	uncertain significance	18	44950011	44950011	Human		name
156278670	CV1967798	single nucleotide variant	NM_015559.3(SETBP1):c.3198C>T (p.Tyr1066=)	not provided [RCV002598323]	likely benign	18	44952538	44952538	Human		name
156070826	CV1971808	single nucleotide variant	NM_015559.3(SETBP1):c.3234G>T (p.Thr1078=)	not provided [RCV002591267]	likely benign	18	44952574	44952574	Human		name
156390168	CV1990045	single nucleotide variant	NM_015559.3(SETBP1):c.655C>T (p.His219Tyr)	Schinzel-Giedion syndrome [RCV005019283]\|not provided [RCV002604597]	likely benign\|uncertain significance	18	44949995	44949995	Human	1	name
156211951	CV1997146	single nucleotide variant	NM_015559.3(SETBP1):c.3426G>C (p.Leu1142=)	not provided [RCV002666877]	likely benign	18	44952766	44952766	Human		name
156108328	CV2002145	single nucleotide variant	NM_015559.3(SETBP1):c.4614G>A (p.Leu1538=)	not provided [RCV002639840]	likely benign	18	45063521	45063521	Human		name
156035285	CV2002611	single nucleotide variant	NM_015559.3(SETBP1):c.869C>T (p.Ala290Val)	not provided [RCV002658827]	uncertain significance	18	44950209	44950209	Human		name
156369959	CV2007654	single nucleotide variant	NM_015559.3(SETBP1):c.732A>C (p.Glu244Asp)	not provided [RCV002676826]	benign\|uncertain significance	18	44950072	44950072	Human		name
156395542	CV2012215	single nucleotide variant	NM_015559.3(SETBP1):c.709A>T (p.Ile237Phe)	not provided [RCV002725510]	benign	18	44950049	44950049	Human		name
155949489	CV2017753	single nucleotide variant	NM_015559.3(SETBP1):c.3540C>G (p.Gly1180=)	not provided [RCV002685938]	likely benign	18	44952880	44952880	Human		name
156365269	CV2020836	single nucleotide variant	NM_015559.3(SETBP1):c.3150C>T (p.Pro1050=)	not provided [RCV002721142]	likely benign	18	44952490	44952490	Human		name
156042785	CV2026462	single nucleotide variant	NM_015559.3(SETBP1):c.3666T>C (p.Ser1222=)	not provided [RCV002736247]	likely benign	18	44953006	44953006	Human		name
155920679	CV2027406	single nucleotide variant	NM_015559.3(SETBP1):c.791A>G (p.Gln264Arg)	not provided [RCV002750700]	uncertain significance	18	44950131	44950131	Human		name
156215426	CV2028638	single nucleotide variant	NM_015559.3(SETBP1):c.4203G>T (p.Arg1401=)	not provided [RCV002711932]	likely benign	18	45063110	45063110	Human		name
156006836	CV2041998	single nucleotide variant	NM_015559.3(SETBP1):c.515G>A (p.Ser172Asn)	not provided [RCV002756474]	benign	18	44869258	44869258	Human		name
156026366	CV2048929	single nucleotide variant	NM_015559.3(SETBP1):c.3037T>C (p.Leu1013=)	not provided [RCV002795829]	benign	18	44952377	44952377	Human		name
156011446	CV2051450	single nucleotide variant	NM_015559.3(SETBP1):c.4647A>C (p.Arg1549=)	not provided [RCV002820142]	likely benign	18	45063554	45063554	Human		name
156115550	CV2058460	single nucleotide variant	NM_015559.3(SETBP1):c.494C>T (p.Thr165Ile)	not provided [RCV002825091]	likely benign	18	44869237	44869237	Human		name
156031869	CV2059180	single nucleotide variant	NM_015559.3(SETBP1):c.3354G>A (p.Gln1118=)	not provided [RCV002796086]	likely benign	18	44952694	44952694	Human		name
155972889	CV2062581	single nucleotide variant	NM_015559.3(SETBP1):c.3750C>T (p.Asp1250=)	not provided [RCV002842162]	benign	18	44953090	44953090	Human		name
156305005	CV2066872	single nucleotide variant	NM_015559.3(SETBP1):c.526G>A (p.Gly176Arg)	not provided [RCV002833813]	uncertain significance	18	44869269	44869269	Human		name
156279026	CV2074539	single nucleotide variant	NM_015559.3(SETBP1):c.3333C>T (p.Ala1111=)	not provided [RCV002856316]	likely benign	18	44952673	44952673	Human		name
156001463	CV2074644	deletion	NM_015559.3(SETBP1):c.1684del (p.Tyr562fs)	not provided [RCV002843425]	pathogenic	18	44951024	44951024	Human		name
10406451	CV208453	deletion	NM_015559.3(SETBP1):c.1821del (p.Ser608fs)	Intellectual disability, autosomal dominant 29 [RCV001265509]\|Schinzel-Giedion syndrome [RCV000192674]	pathogenic	18	44951160	44951160	Human	2	name
155997320	CV2091982	single nucleotide variant	NM_015559.3(SETBP1):c.470G>A (p.Ser157Asn)	not provided [RCV002908450]	likely benign\|conflicting interpretations of pathogenicity	18	44701816	44701816	Human		name
156231343	CV2118196	single nucleotide variant	NM_015559.3(SETBP1):c.4626C>A (p.Pro1542=)	not provided [RCV002958522]	likely benign	18	45063533	45063533	Human		name
156309641	CV2119905	single nucleotide variant	NM_015559.3(SETBP1):c.961G>A (p.Gly321Ser)	Inborn genetic diseases [RCV005266453]\|not provided [RCV002962544]	benign\|uncertain significance	18	44950301	44950301	Human	1	name
156014332	CV2123122	single nucleotide variant	NM_015559.3(SETBP1):c.757G>C (p.Ala253Pro)	not provided [RCV002975819]	benign	18	44950097	44950097	Human		name
156306914	CV2123165	single nucleotide variant	NM_015559.3(SETBP1):c.4752G>A (p.Gln1584=)	not provided [RCV002962409]	likely benign	18	45063659	45063659	Human		name
156302667	CV2129580	single nucleotide variant	NM_015559.3(SETBP1):c.4617C>G (p.Pro1539=)	not provided [RCV002962214]	likely benign	18	45063524	45063524	Human		name
156104106	CV2132428	single nucleotide variant	NM_015559.3(SETBP1):c.4776C>T (p.Ser1592=)	not provided [RCV003002327]	likely benign	18	45063683	45063683	Human		name
156056661	CV2133851	single nucleotide variant	NM_015559.3(SETBP1):c.434G>C (p.Gly145Ala)	not provided [RCV003000056]	likely benign	18	44701780	44701780	Human		name
156136764	CV2141158	single nucleotide variant	NM_015559.3(SETBP1):c.3573T>C (p.Ser1191=)	not provided [RCV002982164]	likely benign	18	44952913	44952913	Human		name
156156341	CV2142442	single nucleotide variant	NM_015559.3(SETBP1):c.3372C>T (p.Gly1124=)	not provided [RCV002982833]	benign	18	44952712	44952712	Human		name
155968841	CV2152392	single nucleotide variant	NM_015559.3(SETBP1):c.405G>T (p.Gln135His)	not provided [RCV003015835]	uncertain significance	18	44701751	44701751	Human		name
155943089	CV2154445	single nucleotide variant	NM_015559.3(SETBP1):c.4731G>A (p.Glu1577=)	not provided [RCV003014396]	likely benign	18	45063638	45063638	Human		name
156291956	CV2156400	single nucleotide variant	NM_015559.3(SETBP1):c.4458C>G (p.Gly1486=)	not provided [RCV003010004]	likely benign	18	45063365	45063365	Human		name
156111919	CV2156590	single nucleotide variant	NM_015559.3(SETBP1):c.4017C>T (p.His1339=)	not provided [RCV003021449]	likely benign	18	45038501	45038501	Human		name
156082312	CV2158703	single nucleotide variant	NM_015559.3(SETBP1):c.3447G>A (p.Lys1149=)	not provided [RCV003037925]	likely benign	18	44952787	44952787	Human		name
155952839	CV2161404	single nucleotide variant	NM_015559.3(SETBP1):c.451A>G (p.Thr151Ala)	not provided [RCV003032530]	uncertain significance	18	44701797	44701797	Human		name
156364672	CV2167115	single nucleotide variant	NM_015559.3(SETBP1):c.4221C>A (p.Ile1407=)	not provided [RCV003031801]	likely benign	18	45063128	45063128	Human		name
156307566	CV2167719	single nucleotide variant	NM_015559.3(SETBP1):c.983C>A (p.Pro328Gln)	not provided [RCV003045854]	uncertain significance	18	44950323	44950323	Human		name
156187037	CV2169500	single nucleotide variant	NM_015559.3(SETBP1):c.737C>T (p.Ala246Val)	not provided [RCV003041533]	benign	18	44950077	44950077	Human		name
156220824	CV2173229	single nucleotide variant	NM_015559.3(SETBP1):c.4788C>G (p.Pro1596=)	not provided [RCV003025186]	likely benign	18	45063695	45063695	Human		name
156223075	CV2173401	single nucleotide variant	NM_015559.3(SETBP1):c.4539C>A (p.Ile1513=)	not provided [RCV003025270]	likely benign	18	45063446	45063446	Human		name
156397080	CV2178329	single nucleotide variant	NM_015559.3(SETBP1):c.3276A>C (p.Pro1092=)	not provided [RCV003051952]	likely benign	18	44952616	44952616	Human		name
156004600	CV2179366	single nucleotide variant	NM_015559.3(SETBP1):c.3096G>C (p.Val1032=)	not provided [RCV003034933]	likely benign	18	44952436	44952436	Human		name
156281796	CV2186887	single nucleotide variant	NM_015559.3(SETBP1):c.547G>C (p.Glu183Gln)	not provided [RCV003044803]	likely benign	18	44949887	44949887	Human		name
156140429	CV2191777	single nucleotide variant	NM_015559.3(SETBP1):c.608G>A (p.Gly203Asp)	not provided [RCV003056161]	benign	18	44949948	44949948	Human		name
156247678	CV2192578	single nucleotide variant	NM_015559.3(SETBP1):c.754C>T (p.Pro252Ser)	not provided [RCV003059901]	uncertain significance	18	44950094	44950094	Human		name
156259971	CV2216293	single nucleotide variant	NM_015559.3(SETBP1):c.440A>G (p.Asn147Ser)	Inborn genetic diseases [RCV002702965]	uncertain significance	18	44701786	44701786	Human	1	name
156165303	CV2270336	single nucleotide variant	NM_015559.3(SETBP1):c.910A>C (p.Ser304Arg)	Inborn genetic diseases [RCV002827643]	uncertain significance	18	44950250	44950250	Human	1	name
155902631	CV2274727	single nucleotide variant	NM_015559.3(SETBP1):c.931C>A (p.Leu311Ile)	Inborn genetic diseases [RCV002836729]	uncertain significance	18	44950271	44950271	Human	1	name
155954589	CV2302170	single nucleotide variant	NM_015559.3(SETBP1):c.383A>T (p.Glu128Val)	Inborn genetic diseases [RCV002905430]	uncertain significance	18	44701729	44701729	Human	1	name
155958417	CV2313783	single nucleotide variant	NM_015559.3(SETBP1):c.583A>G (p.Thr195Ala)	Inborn genetic diseases [RCV002905795]\|not provided [RCV003546911]	uncertain significance	18	44949923	44949923	Human	1	name
156350773	CV2316273	single nucleotide variant	NM_015559.3(SETBP1):c.427C>G (p.Arg143Gly)	Inborn genetic diseases [RCV002939840]\|not provided [RCV003561122]	uncertain significance	18	44701773	44701773	Human	1	name
329350785	CV2421812	single nucleotide variant	NM_015559.3(SETBP1):c.638A>C (p.Lys213Thr)	not provided [RCV003159516]	uncertain significance	18	44949978	44949978	Human		name
11633651	CV264907	deletion	NM_015559.3(SETBP1):c.1568del (p.His523fs)	Intellectual disability, autosomal dominant 29 [RCV001265340]\|SETBP1-related disorder [RCV000509457]\|not provided [RCV000355861]	pathogenic\|not provided	18	44950908	44950908	Human	1	name , alternate_id
401799074	CV2741650	single nucleotide variant	NM_015559.3(SETBP1):c.811G>C (p.Gly271Arg)	not provided [RCV003323058]	uncertain significance	18	44950151	44950151	Human		name
401828363	CV2743337	deletion	NM_015559.3(SETBP1):c.2812del (p.His938fs)	Intellectual disability, autosomal dominant 29 [RCV003326179]	pathogenic	18	44952152	44952152	Human	1	name
401922933	CV2796631	deletion	NM_015559.3(SETBP1):c.2087del (p.Pro696fs)	SETBP1-related disorder [RCV004527941]	pathogenic	18	44951423	44951423	Human		name , trait , alternate_id
401924357	CV2801000	single nucleotide variant	NM_015559.3(SETBP1):c.614C>A (p.Thr205Asn)	SETBP1-related disorder [RCV004528032]	uncertain significance	18	44949954	44949954	Human		name , trait , alternate_id
401924616	CV2805006	single nucleotide variant	NM_015559.3(SETBP1):c.923G>A (p.Cys308Tyr)	not provided [RCV003549098]\|not specified [RCV003404825]	uncertain significance	18	44950263	44950263	Human		name
401906708	CV2818321	single nucleotide variant	NM_015559.3(SETBP1):c.428G>A (p.Arg143His)	not provided [RCV003421631]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	44701774	44701774	Human		name
401908254	CV2818324	single nucleotide variant	NM_015559.3(SETBP1):c.773C>T (p.Ala258Val)	not provided [RCV003423073]	uncertain significance	18	44950113	44950113	Human		name
401936005	CV2818325	single nucleotide variant	NM_015559.3(SETBP1):c.3300C>T (p.His1100=)	not provided [RCV003413446]	benign\|likely benign	18	44952640	44952640	Human		name
401908251	CV2818327	single nucleotide variant	NM_015559.3(SETBP1):c.3528C>T (p.Gly1176=)	not provided [RCV003423075]	likely benign	18	44952868	44952868	Human		name
401908250	CV2818329	single nucleotide variant	NM_015559.3(SETBP1):c.4575A>C (p.Pro1525=)	not provided [RCV003423076]	likely benign	18	45063482	45063482	Human		name
404985937	CV2852386	single nucleotide variant	NM_015559.3(SETBP1):c.3147A>T (p.Ala1049=)	not specified [RCV003489622]	likely benign	18	44952487	44952487	Human		name
405082243	CV2854854	single nucleotide variant	NM_015559.3(SETBP1):c.4441C>T (p.Leu1481=)	not provided [RCV003549199]	likely benign	18	45063348	45063348	Human		name
402492212	CV2863178	duplication	NM_015559.3(SETBP1):c.2738dup (p.Asn913fs)	not provided [RCV003573128]	pathogenic	18	44952076	44952077	Human		name
405083564	CV2865089	deletion	NM_015559.3(SETBP1):c.1459del (p.Glu487fs)	not provided [RCV003549411]	pathogenic	18	44950799	44950799	Human		name
402486303	CV2865301	single nucleotide variant	NM_015559.3(SETBP1):c.617T>A (p.Leu206Ter)	not provided [RCV003544503]	pathogenic	18	44949957	44949957	Human		name
405020660	CV2866379	single nucleotide variant	NM_015559.3(SETBP1):c.311A>G (p.Lys104Arg)	not provided [RCV003577547]	uncertain significance	18	44701657	44701657	Human		name
405095420	CV2874894	single nucleotide variant	NM_015559.3(SETBP1):c.3010T>C (p.Leu1004=)	not provided [RCV003550223]	likely benign	18	44952350	44952350	Human		name
405212098	CV2878600	single nucleotide variant	NM_015559.3(SETBP1):c.661G>A (p.Asp221Asn)	not provided [RCV003552745]	uncertain significance	18	44950001	44950001	Human		name
402504255	CV2880005	single nucleotide variant	NM_015559.3(SETBP1):c.598G>A (p.Asp200Asn)	not provided [RCV003546213]	likely benign	18	44949938	44949938	Human		name
405120479	CV2887950	single nucleotide variant	NM_015559.3(SETBP1):c.895C>T (p.Pro299Ser)	not provided [RCV003559039]	uncertain significance	18	44950235	44950235	Human		name
405052151	CV2893511	single nucleotide variant	NM_015559.3(SETBP1):c.3078T>C (p.Asn1026=)	not provided [RCV003579866]	likely benign	18	44952418	44952418	Human		name
405110962	CV2906831	single nucleotide variant	NM_015559.3(SETBP1):c.667T>A (p.Ser223Thr)	not provided [RCV003557888]	uncertain significance	18	44950007	44950007	Human		name
402466714	CV2914907	single nucleotide variant	NM_015559.3(SETBP1):c.4782C>G (p.Val1594=)	not provided [RCV003569515]	likely benign	18	45063689	45063689	Human		name
405212991	CV2918248	single nucleotide variant	NM_015559.3(SETBP1):c.3651C>T (p.Ala1217=)	not provided [RCV003567401]	likely benign	18	44952991	44952991	Human		name
405223997	CV2919812	single nucleotide variant	NM_015559.3(SETBP1):c.750G>C (p.Lys250Asn)	not provided [RCV003568852]	uncertain significance	18	44950090	44950090	Human		name
405211533	CV2920771	single nucleotide variant	NM_015559.3(SETBP1):c.346C>T (p.Pro116Ser)	not provided [RCV003567047]	likely benign\|uncertain significance	18	44701692	44701692	Human		name
402469423	CV2930974	single nucleotide variant	NM_015559.3(SETBP1):c.3832C>T (p.Leu1278=)	not provided [RCV003570103]	likely benign	18	44953172	44953172	Human		name
405010462	CV2933571	single nucleotide variant	NM_015559.3(SETBP1):c.4569C>G (p.Pro1523=)	not provided [RCV003576689]	likely benign	18	45063476	45063476	Human		name
405126652	CV2939551	single nucleotide variant	NM_015559.3(SETBP1):c.837C>G (p.Asn279Lys)	not provided [RCV003672020]	benign	18	44950177	44950177	Human		name
405101585	CV2941983	single nucleotide variant	NM_015559.3(SETBP1):c.3786A>G (p.Arg1262=)	not provided [RCV003666212]	likely benign	18	44953126	44953126	Human		name
405088577	CV2943436	single nucleotide variant	NM_015559.3(SETBP1):c.757G>T (p.Ala253Ser)	not provided [RCV003665127]	uncertain significance	18	44950097	44950097	Human		name
405069020	CV2944719	single nucleotide variant	NM_015559.3(SETBP1):c.4533G>A (p.Ala1511=)	not provided [RCV003663866]	likely benign	18	45063440	45063440	Human		name
402504965	CV2947541	single nucleotide variant	NM_015559.3(SETBP1):c.660G>A (p.Met220Ile)	not provided [RCV003661971]	likely benign	18	44950000	44950000	Human		name
405130950	CV2953735	single nucleotide variant	NM_015559.3(SETBP1):c.665G>T (p.Trp222Leu)	not provided [RCV003672401]	uncertain significance	18	44950005	44950005	Human		name
405117988	CV2955775	single nucleotide variant	NM_015559.3(SETBP1):c.3030T>A (p.Thr1010=)	not provided [RCV003671158]	benign	18	44952370	44952370	Human		name
405127981	CV2958580	single nucleotide variant	NM_015559.3(SETBP1):c.4713G>A (p.Gln1571=)	not provided [RCV003668033]	likely benign	18	45063620	45063620	Human		name
405133766	CV2959336	single nucleotide variant	NM_015559.3(SETBP1):c.938C>T (p.Pro313Leu)	not provided [RCV003668567]	likely benign	18	44950278	44950278	Human		name
405185246	CV2963835	single nucleotide variant	NM_015559.3(SETBP1):c.4443G>A (p.Leu1481=)	not provided [RCV003676685]	likely benign	18	45063350	45063350	Human		name
405186265	CV2963846	single nucleotide variant	NM_015559.3(SETBP1):c.3906C>T (p.Ser1302=)	not provided [RCV003676691]	likely benign	18	44953246	44953246	Human		name
405222055	CV2966333	single nucleotide variant	NM_015559.3(SETBP1):c.558G>C (p.Gln186His)	not provided [RCV003680819]	benign	18	44949898	44949898	Human		name
405215406	CV2967844	single nucleotide variant	NM_015559.3(SETBP1):c.442A>G (p.Ser148Gly)	not provided [RCV003679955]	likely benign	18	44701788	44701788	Human		name
405228894	CV2973823	single nucleotide variant	NM_015559.3(SETBP1):c.563A>T (p.His188Leu)	not provided [RCV003681914]	uncertain significance	18	44949903	44949903	Human		name
405222814	CV2976429	single nucleotide variant	NM_015559.3(SETBP1):c.4575A>G (p.Pro1525=)	not provided [RCV003680952]	likely benign	18	45063482	45063482	Human		name
405228337	CV2980708	single nucleotide variant	NM_015559.3(SETBP1):c.584C>A (p.Thr195Lys)	not provided [RCV003711089]	likely benign	18	44949924	44949924	Human		name
402490879	CV2980936	single nucleotide variant	NM_015559.3(SETBP1):c.3225A>G (p.Leu1075=)	not provided [RCV003713761]	likely benign	18	44952565	44952565	Human		name
402493424	CV2982025	single nucleotide variant	NM_015559.3(SETBP1):c.539A>G (p.Gln180Arg)	not provided [RCV003714001]	likely benign	18	44869282	44869282	Human		name
405231681	CV2988346	single nucleotide variant	NM_015559.3(SETBP1):c.4680C>G (p.Pro1560=)	not provided [RCV003711562]	likely benign	18	45063587	45063587	Human		name
402489937	CV3011652	single nucleotide variant	NM_015559.3(SETBP1):c.621A>T (p.Lys207Asn)	not provided [RCV003687437]	likely benign	18	44949961	44949961	Human		name
405175533	CV3023647	single nucleotide variant	NM_015559.3(SETBP1):c.574C>T (p.His192Tyr)	not provided [RCV003705055]	uncertain significance	18	44949914	44949914	Human		name
405139950	CV3029800	single nucleotide variant	NM_015559.3(SETBP1):c.349C>G (p.Pro117Ala)	not provided [RCV003702421]	uncertain significance	18	44701695	44701695	Human		name
405172647	CV3030270	single nucleotide variant	NM_015559.3(SETBP1):c.3462C>T (p.His1154=)	not provided [RCV003704755]	likely benign	18	44952802	44952802	Human		name
405119349	CV3030655	single nucleotide variant	NM_015559.3(SETBP1):c.3351G>A (p.Leu1117=)	not provided [RCV003700588]	likely benign	18	44952691	44952691	Human		name
405252239	CV3047066	single nucleotide variant	NM_015559.3(SETBP1):c.568A>G (p.Thr190Ala)	not provided [RCV003722131]	benign	18	44949908	44949908	Human		name
405133241	CV3047516	single nucleotide variant	NM_015559.3(SETBP1):c.4041G>A (p.Val1347=)	not provided [RCV003725016]	likely benign	18	45038525	45038525	Human		name
405176176	CV3049375	single nucleotide variant	NM_015559.3(SETBP1):c.3789C>T (p.Tyr1263=)	not provided [RCV003728360]	likely benign	18	44953129	44953129	Human		name
405245974	CV3051592	single nucleotide variant	NM_015559.3(SETBP1):c.3636C>T (p.His1212=)	not provided [RCV003720330]	likely benign	18	44952976	44952976	Human		name
405244261	CV3054029	single nucleotide variant	NM_015559.3(SETBP1):c.769G>T (p.Val257Leu)	not provided [RCV003719858]	uncertain significance	18	44950109	44950109	Human		name
405183691	CV3057837	single nucleotide variant	NM_015559.3(SETBP1):c.889A>G (p.Ser297Gly)	not provided [RCV003729049]	benign	18	44950229	44950229	Human		name
405192694	CV3066171	single nucleotide variant	NM_015559.3(SETBP1):c.3021T>C (p.Leu1007=)	not provided [RCV003729878]	benign	18	44952361	44952361	Human		name
405187592	CV3068986	single nucleotide variant	NM_015559.3(SETBP1):c.3930G>A (p.Arg1310=)	not provided [RCV003729416]	likely benign	18	44953270	44953270	Human		name
405242008	CV3070291	single nucleotide variant	NM_015559.3(SETBP1):c.4578G>A (p.Pro1526=)	not provided [RCV003737386]	likely benign	18	45063485	45063485	Human		name
405237020	CV3080686	single nucleotide variant	NM_015559.3(SETBP1):c.3837C>T (p.Asp1279=)	not provided [RCV003736077]	likely benign	18	44953177	44953177	Human		name
405151470	CV3123400	single nucleotide variant	NM_015559.3(SETBP1):c.4611C>T (p.Pro1537=)	not provided [RCV003817633]	likely benign	18	45063518	45063518	Human		name
405037275	CV3140626	single nucleotide variant	NM_015559.3(SETBP1):c.801A>T (p.Lys267Asn)	not provided [RCV003831108]	uncertain significance	18	44950141	44950141	Human		name
405231932	CV3144540	single nucleotide variant	NM_015559.3(SETBP1):c.3243A>G (p.Ala1081=)	not provided [RCV003852993]	likely benign	18	44952583	44952583	Human		name
405233084	CV3144902	single nucleotide variant	NM_015559.3(SETBP1):c.3424C>T (p.Leu1142=)	not provided [RCV003853159]	likely benign	18	44952764	44952764	Human		name
405069836	CV3145206	single nucleotide variant	NM_015559.3(SETBP1):c.3015C>T (p.Leu1005=)	not provided [RCV003850791]	likely benign	18	44952355	44952355	Human		name
405209898	CV3145857	single nucleotide variant	NM_015559.3(SETBP1):c.3252A>G (p.Pro1084=)	not provided [RCV003845587]	likely benign	18	44952592	44952592	Human		name
405166708	CV3149445	single nucleotide variant	NM_015559.3(SETBP1):c.475T>C (p.Ser159Pro)	not provided [RCV003841107]	benign	18	44701821	44701821	Human		name
405080100	CV3166753	single nucleotide variant	NM_015559.3(SETBP1):c.4131G>C (p.Val1377=)	not provided [RCV003851527]	likely benign	18	45038615	45038615	Human		name
405090233	CV3167741	single nucleotide variant	NM_015559.3(SETBP1):c.3669G>A (p.Lys1223=)	not provided [RCV003852131]	likely benign	18	44953009	44953009	Human		name
405237321	CV3169124	single nucleotide variant	NM_015559.3(SETBP1):c.376C>T (p.Pro126Ser)	not provided [RCV003866403]	uncertain significance	18	44701722	44701722	Human		name
405237365	CV3169210	single nucleotide variant	NM_015559.3(SETBP1):c.4722C>T (p.Pro1574=)	not provided [RCV003866489]	likely benign	18	45063629	45063629	Human		name
405255526	CV3172507	single nucleotide variant	NM_015559.3(SETBP1):c.612C>G (p.Asp204Glu)	not provided [RCV003872445]	likely benign	18	44949952	44949952	Human		name
404984736	CV3183687	single nucleotide variant	NM_015559.3(SETBP1):c.652A>G (p.Asn218Asp)	not provided [RCV003880964]	uncertain significance	18	44949992	44949992	Human		name
405277850	CV3191016	single nucleotide variant	NM_015559.3(SETBP1):c.3795C>A (p.Gly1265=)	SETBP1-related disorder [RCV004537119]	likely benign	18	44953135	44953135	Human		name , trait , alternate_id
405272222	CV3199272	single nucleotide variant	NM_015559.3(SETBP1):c.4593G>C (p.Pro1531=)	SETBP1-related disorder [RCV004539377]	likely benign	18	45063500	45063500	Human		name , trait , alternate_id
405275627	CV3199408	single nucleotide variant	NM_015559.3(SETBP1):c.4608A>C (p.Pro1536=)	SETBP1-related disorder [RCV004539382]\|not provided [RCV005242478]	likely benign	18	45063515	45063515	Human	1	name , alternate_id
405277912	CV3203062	single nucleotide variant	NM_015559.3(SETBP1):c.4596A>C (p.Pro1532=)	SETBP1-related disorder [RCV004539368]	likely benign	18	45063503	45063503	Human		name , trait , alternate_id
405276177	CV3206616	single nucleotide variant	NM_015559.3(SETBP1):c.4605A>C (p.Pro1535=)	SETBP1-related disorder [RCV004539400]	likely benign	18	45063512	45063512	Human		name , trait , alternate_id
405276203	CV3206631	single nucleotide variant	NM_015559.3(SETBP1):c.4599G>C (p.Pro1533=)	SETBP1-related disorder [RCV004539401]	likely benign	18	45063506	45063506	Human		name , trait , alternate_id
405279273	CV3206905	single nucleotide variant	NM_015559.3(SETBP1):c.4602G>C (p.Pro1534=)	SETBP1-related disorder [RCV004539412]	likely benign	18	45063509	45063509	Human		name , trait , alternate_id
405278996	CV3220578	single nucleotide variant	NM_015559.3(SETBP1):c.4572G>C (p.Pro1524=)	SETBP1-related disorder [RCV004540880]\|not provided [RCV004810659]	benign\|likely benign	18	45063479	45063479	Human	1	name , alternate_id
405699290	CV3227095	single nucleotide variant	NM_015559.3(SETBP1):c.553C>T (p.Pro185Ser)	not provided [RCV003993489]	uncertain significance	18	44949893	44949893	Human		name
405761888	CV3311170	single nucleotide variant	NM_015559.3(SETBP1):c.407C>G (p.Ser136Cys)	Inborn genetic diseases [RCV004455455]	uncertain significance	18	44701753	44701753	Human	1	name
405761899	CV3311172	single nucleotide variant	NM_015559.3(SETBP1):c.611A>G (p.Asp204Gly)	Inborn genetic diseases [RCV004455457]	uncertain significance	18	44949951	44949951	Human	1	name
11615404	CV331277	single nucleotide variant	NM_015559.3(SETBP1):c.839A>G (p.Asn280Ser)	SETBP1-related disorder [RCV004537825]\|not provided [RCV000981707]	likely benign\|uncertain significance	18	44950179	44950179	Human	1	name , alternate_id
11615595	CV331300	single nucleotide variant	NM_015559.3(SETBP1):c.4209G>A (p.Glu1403=)	Schinzel-Giedion syndrome [RCV003316493]\|not provided [RCV001546163]	benign\|likely benign	18	45063116	45063116	Human	1	name
407429266	CV3413677	deletion	NM_015559.3(SETBP1):c.1119del (p.Ala374fs)	Intellectual disability, autosomal dominant 29 [RCV004595086]	pathogenic	18	44950458	44950458	Human	1	name
407469845	CV3415393	deletion	NM_015559.3(SETBP1):c.2338del (p.Ser780fs)	Intellectual disability, autosomal dominant 29 [RCV004598352]	likely pathogenic	18	44951676	44951676	Human	1	name
11631604	CV347012	single nucleotide variant	NM_015559.3(SETBP1):c.685G>A (p.Gly229Arg)	SETBP1-related disorder [RCV004544590]\|Schinzel-Giedion syndrome [RCV000383436]\|not provided [RCV001683316]	benign\|likely benign	18	44950025	44950025	Human	2	name , alternate_id
11631044	CV347024	single nucleotide variant	NM_015559.3(SETBP1):c.3561C>T (p.Ser1187=)	not provided [RCV002191497]	likely benign\|uncertain significance	18	44952901	44952901	Human		name
11626965	CV347025	single nucleotide variant	NM_015559.3(SETBP1):c.3576C>T (p.Ser1192=)	Schinzel-Giedion syndrome [RCV003316490]\|not provided [RCV000960406]	benign\|likely benign	18	44952916	44952916	Human	1	name
11630021	CV348258	single nucleotide variant	NM_015559.3(SETBP1):c.812G>C (p.Gly271Ala)	not provided [RCV003083018]	likely benign\|uncertain significance	18	44950152	44950152	Human		name
11657634	CV348259	single nucleotide variant	NM_015559.3(SETBP1):c.874T>A (p.Ser292Thr)	Schinzel-Giedion syndrome [RCV000342937]	uncertain significance	18	44950214	44950214	Human		name
11664389	CV348260	single nucleotide variant	NM_015559.3(SETBP1):c.921G>T (p.Glu307Asp)	Schinzel-Giedion syndrome [RCV000405288]	uncertain significance	18	44950261	44950261	Human		name
11629072	CV348289	single nucleotide variant	NM_015559.3(SETBP1):c.3237T>C (p.Leu1079=)	SETBP1-related disorder [RCV004544591]\|Schinzel-Giedion syndrome [RCV005235262]\|not provided [RCV000877951]	benign\|likely benign	18	44952577	44952577	Human	2	name , alternate_id
11628444	CV348290	single nucleotide variant	NM_015559.3(SETBP1):c.3618T>C (p.His1206=)	Schinzel-Giedion syndrome [RCV002502260]\|Schinzel-Giedion syndrome [RCV003316491]\|not provided [RCV000870737]\|not specified [RCV001287946]	benign\|likely benign	18	44952958	44952958	Human	1	name
11630777	CV348292	single nucleotide variant	NM_015559.3(SETBP1):c.3681G>A (p.Glu1227=)	Schinzel-Giedion syndrome [RCV003316492]\|not provided [RCV000945358]	likely benign	18	44953021	44953021	Human	1	name
11626658	CV348295	single nucleotide variant	NM_015559.3(SETBP1):c.3714C>T (p.Asp1238=)	not provided [RCV002125833]	likely benign\|uncertain significance	18	44953054	44953054	Human		name
11630254	CV348303	single nucleotide variant	NM_015559.3(SETBP1):c.4234C>A (p.Arg1412=)	SETBP1-related disorder [RCV004537829]\|not provided [RCV001690085]\|not specified [RCV000518404]	benign\|likely benign	18	45063141	45063141	Human	1	name , alternate_id
407458917	CV3496657	deletion	NM_015559.3(SETBP1):c.2762del (p.His921fs)	Intellectual disability, autosomal dominant 29 [RCV004698369]	pathogenic	18	44952102	44952102	Human	1	name
408365527	CV3500002	single nucleotide variant	NM_015559.3(SETBP1):c.458A>T (p.Glu153Val)	not provided [RCV004722045]	uncertain significance	18	44701804	44701804	Human		name
408393493	CV3526158	deletion	NM_015559.3(SETBP1):c.2183del (p.Gly728fs)	Intellectual disability, autosomal dominant 29 [RCV004771590]	pathogenic	18	44951520	44951520	Human	1	name
596944311	CV3543138	deletion	NM_015559.3(SETBP1):c.1593del (p.Arg531fs)	Intellectual disability, autosomal dominant 29 [RCV004799010]	pathogenic	18	44950932	44950932	Human	1	name
597931050	CV3745914	single nucleotide variant	NM_015559.3(SETBP1):c.4593G>T (p.Pro1531=)	not provided [RCV005075900]	likely benign	18	45063500	45063500	Human		name
597868870	CV3749719	single nucleotide variant	NM_015559.3(SETBP1):c.781G>A (p.Ala261Thr)	not provided [RCV005068400]	uncertain significance	18	44950121	44950121	Human		name
597966846	CV3751679	single nucleotide variant	NM_015559.3(SETBP1):c.3006C>T (p.Asp1002=)	not provided [RCV005083049]	likely benign	18	44952346	44952346	Human		name
597967665	CV3760699	single nucleotide variant	NM_015559.3(SETBP1):c.4365G>A (p.Gly1455=)	not provided [RCV005083266]	likely benign	18	45063272	45063272	Human		name
597837892	CV3763080	single nucleotide variant	NM_015559.3(SETBP1):c.838A>T (p.Asn280Tyr)	not provided [RCV005110853]	uncertain significance	18	44950178	44950178	Human		name
597837100	CV3764001	single nucleotide variant	NM_015559.3(SETBP1):c.4563C>A (p.Pro1521=)	not provided [RCV005109402]	likely benign	18	45063470	45063470	Human		name
597842126	CV3776945	single nucleotide variant	NM_015559.3(SETBP1):c.3831C>T (p.Asn1277=)	not provided [RCV005117104]	likely benign	18	44953171	44953171	Human		name
597854088	CV3782164	single nucleotide variant	NM_015559.3(SETBP1):c.4524C>T (p.Thr1508=)	not provided [RCV005128657]	likely benign	18	45063431	45063431	Human		name
597850955	CV3785502	single nucleotide variant	NM_015559.3(SETBP1):c.3813C>A (p.Gly1271=)	not provided [RCV005126088]	likely benign	18	44953153	44953153	Human		name
597851085	CV3785610	single nucleotide variant	NM_015559.3(SETBP1):c.885C>A (p.Ser295Arg)	not provided [RCV005126196]	uncertain significance	18	44950225	44950225	Human		name
597860186	CV3785774	single nucleotide variant	NM_015559.3(SETBP1):c.620A>C (p.Lys207Thr)	not provided [RCV005133666]	uncertain significance	18	44949960	44949960	Human		name
597855272	CV3789722	single nucleotide variant	NM_015559.3(SETBP1):c.4434C>T (p.Cys1478=)	not provided [RCV005129817]	likely benign	18	45063341	45063341	Human		name
597867490	CV3790174	single nucleotide variant	NM_015559.3(SETBP1):c.904C>G (p.Pro302Ala)	not provided [RCV005142597]	benign	18	44950244	44950244	Human		name
597862206	CV3790572	single nucleotide variant	NM_015559.3(SETBP1):c.4383C>T (p.Pro1461=)	not provided [RCV005134980]	likely benign	18	45063290	45063290	Human		name
597862314	CV3798819	single nucleotide variant	NM_015559.3(SETBP1):c.716C>T (p.Pro239Leu)	not provided [RCV005136393]	uncertain significance	18	44950056	44950056	Human		name
597883305	CV3807893	single nucleotide variant	NM_015559.3(SETBP1):c.901C>T (p.Pro301Ser)	not provided [RCV005158272]	uncertain significance	18	44950241	44950241	Human		name
597888324	CV3811897	single nucleotide variant	NM_015559.3(SETBP1):c.4362C>T (p.Arg1454=)	not provided [RCV005163550]	likely benign	18	45063269	45063269	Human		name
597888483	CV3812056	single nucleotide variant	NM_015559.3(SETBP1):c.4092A>G (p.Pro1364=)	not provided [RCV005163709]	likely benign	18	45038576	45038576	Human		name
597874305	CV3813715	single nucleotide variant	NM_015559.3(SETBP1):c.547G>A (p.Glu183Lys)	not provided [RCV005149457]	likely benign	18	44949887	44949887	Human		name
597888969	CV3819480	single nucleotide variant	NM_015559.3(SETBP1):c.4602G>A (p.Pro1534=)	not provided [RCV005164196]	likely benign	18	45063509	45063509	Human		name
597893244	CV3820563	single nucleotide variant	NM_015559.3(SETBP1):c.4587C>T (p.Pro1529=)	not provided [RCV005168080]	likely benign	18	45063494	45063494	Human		name
597891058	CV3821432	single nucleotide variant	NM_015559.3(SETBP1):c.773C>G (p.Ala258Gly)	not provided [RCV005166074]	uncertain significance	18	44950113	44950113	Human		name
597899676	CV3822120	single nucleotide variant	NM_015559.3(SETBP1):c.3861G>T (p.Ser1287=)	not provided [RCV005174418]	likely benign	18	44953201	44953201	Human		name
597899879	CV3822373	single nucleotide variant	NM_015559.3(SETBP1):c.4521C>T (p.Ala1507=)	not provided [RCV005174671]	likely benign	18	45063428	45063428	Human		name
597897579	CV3827262	single nucleotide variant	NM_015559.3(SETBP1):c.357T>G (p.Asn119Lys)	not provided [RCV005172533]	likely benign	18	44701703	44701703	Human		name
597896255	CV3828308	single nucleotide variant	NM_015559.3(SETBP1):c.4239G>A (p.Lys1413=)	not provided [RCV005171200]	benign	18	45063146	45063146	Human		name
597895381	CV3830878	single nucleotide variant	NM_015559.3(SETBP1):c.3855C>T (p.Asn1285=)	not provided [RCV005170276]	likely benign	18	44953195	44953195	Human		name
597895640	CV3831296	single nucleotide variant	NM_015559.3(SETBP1):c.4201C>A (p.Arg1401=)	not provided [RCV005170499]	likely benign	18	45063108	45063108	Human		name
597910518	CV3837501	single nucleotide variant	NM_015559.3(SETBP1):c.3042G>A (p.Lys1014=)	not provided [RCV005185659]	likely benign	18	44952382	44952382	Human		name
597901830	CV3839311	single nucleotide variant	NM_015559.3(SETBP1):c.4059C>T (p.Gly1353=)	not provided [RCV005176422]	likely benign	18	45038543	45038543	Human		name
597907156	CV3846636	single nucleotide variant	NM_015559.3(SETBP1):c.948T>A (p.Asp316Glu)	not provided [RCV005182063]	uncertain significance	18	44950288	44950288	Human		name
597917241	CV3848477	single nucleotide variant	NM_015559.3(SETBP1):c.659T>C (p.Met220Thr)	not provided [RCV005192178]	benign	18	44949999	44949999	Human		name
597914483	CV3852550	single nucleotide variant	NM_015559.3(SETBP1):c.625A>C (p.Lys209Gln)	not provided [RCV005189628]	uncertain significance	18	44949965	44949965	Human		name
597923928	CV3856919	single nucleotide variant	NM_015559.3(SETBP1):c.608G>C (p.Gly203Ala)	not provided [RCV005198719]	uncertain significance	18	44949948	44949948	Human		name
597926459	CV3857150	single nucleotide variant	NM_015559.3(SETBP1):c.3921A>G (p.Gly1307=)	not provided [RCV005201013]	likely benign	18	44953261	44953261	Human		name
598226720	CV3900585	single nucleotide variant	NM_015559.3(SETBP1):c.569C>G (p.Thr190Ser)	Inborn genetic diseases [RCV005273552]	uncertain significance	18	44949909	44949909	Human	1	name
598226727	CV3900587	single nucleotide variant	NM_015559.3(SETBP1):c.635A>C (p.Gln212Pro)	Inborn genetic diseases [RCV005273554]	uncertain significance	18	44949975	44949975	Human	1	name
617153541	CV4016632	single nucleotide variant	NM_015559.3(SETBP1):c.403C>T (p.Gln135Ter)	not provided [RCV005415729]	pathogenic	18	44701749	44701749	Human		name
12895604	CV410368	deletion	NM_015559.3(SETBP1):c.1676del (p.Pro559fs)	not provided [RCV000487097]	pathogenic	18	44951012	44951012	Human		name
13478949	CV442028	single nucleotide variant	NM_015559.3(SETBP1):c.708C>A (p.Phe236Leu)	not provided [RCV001851459]\|not specified [RCV000516836]	uncertain significance	18	44950048	44950048	Human		name
13509252	CV482171	single nucleotide variant	NM_015559.3(SETBP1):c.821G>A (p.Trp274Ter)	Intellectual disability, autosomal dominant 29 [RCV001265337]\|not provided [RCV000579196]	pathogenic	18	44950161	44950161	Human	1	name
13611537	CV514743	deletion	NM_015559.3(SETBP1):c.1661del (p.Leu554fs)	not provided [RCV000627541]	pathogenic	18	44951001	44951001	Human		name
13704806	CV539080	single nucleotide variant	NM_015559.3(SETBP1):c.665G>C (p.Trp222Ser)	Intellectual disability, autosomal dominant 29 [RCV000662030]\|Schinzel-Giedion syndrome [RCV000662031]\|not provided [RCV002060791]	benign\|uncertain significance	18	44950005	44950005	Human	2	name
13801347	CV577688	single nucleotide variant	NM_015559.3(SETBP1):c.493A>G (p.Thr165Ala)	not provided [RCV000713192]	uncertain significance	18	44869236	44869236	Human		name
13834660	CV585910	single nucleotide variant	NM_015559.3(SETBP1):c.846A>C (p.Lys282Asn)	not provided [RCV000730239]	uncertain significance	18	44950186	44950186	Human		name
14395953	CV611889	single nucleotide variant	NM_015559.3(SETBP1):c.666G>A (p.Trp222Ter)	Intellectual disability, autosomal dominant 29 [RCV003313977]\|not provided [RCV000760674]	pathogenic	18	44950006	44950006	Human	1	name
15103445	CV688915	single nucleotide variant	NM_015559.3(SETBP1):c.4131G>A (p.Val1377=)	SETBP1-related disorder [RCV004540227]\|not provided [RCV000870673]\|not specified [RCV001287947]	benign	18	45038615	45038615	Human	1	name , alternate_id
15106532	CV694271	single nucleotide variant	NM_015559.3(SETBP1):c.991G>T (p.Val331Leu)	Inborn genetic diseases [RCV002539962]\|not provided [RCV000871320]	benign\|likely benign	18	44950331	44950331	Human	1	name
15199405	CV727720	single nucleotide variant	NM_015559.3(SETBP1):c.3834G>C (p.Leu1278=)	not provided [RCV000890625]	benign\|likely benign	18	44953174	44953174	Human		name
15172806	CV741361	single nucleotide variant	NM_015559.3(SETBP1):c.927C>A (p.Asn309Lys)	not provided [RCV000905741]	likely benign\|conflicting interpretations of pathogenicity	18	44950267	44950267	Human		name
15167135	CV741365	single nucleotide variant	NM_015559.3(SETBP1):c.3234G>A (p.Thr1078=)	not provided [RCV000904590]	likely benign	18	44952574	44952574	Human		name
15164657	CV756444	single nucleotide variant	NM_015559.3(SETBP1):c.3870G>A (p.Lys1290=)	not provided [RCV000926435]	likely benign	18	44953210	44953210	Human		name
15195680	CV772136	single nucleotide variant	NM_015559.3(SETBP1):c.3288C>T (p.His1096=)	not provided [RCV000934007]	likely benign	18	44952628	44952628	Human		name
15139147	CV772137	single nucleotide variant	NM_015559.3(SETBP1):c.3744A>G (p.Lys1248=)	not provided [RCV000943507]	likely benign	18	44953084	44953084	Human		name
15175295	CV772138	single nucleotide variant	NM_015559.3(SETBP1):c.3867C>T (p.Asp1289=)	not provided [RCV000928641]	likely benign	18	44953207	44953207	Human		name
15102461	CV785899	single nucleotide variant	NM_015559.3(SETBP1):c.412G>T (p.Asp138Tyr)	not provided [RCV000975803]	likely benign	18	44701758	44701758	Human		name
21075734	CV797676	single nucleotide variant	NM_015559.3(SETBP1):c.584C>T (p.Thr195Met)	Inborn genetic diseases [RCV004962988]\|Intellectual disability, autosomal dominant 29 [RCV001836928]\|not provided [RCV000996681]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	44949924	44949924	Human	2	name
25319419	CV806017	duplication	NM_015559.3(SETBP1):c.1827dup (p.Val610fs)	not provided [RCV001008979]	pathogenic	18	44951163	44951164	Human		name
8636503	CV91728	single nucleotide variant	NM_015559.3(SETBP1):c.862G>A (p.Gly288Ser)	not provided [RCV003548131]	uncertain significance\|not provided	18	44950202	44950202	Human		name
38466110	CV919797	single nucleotide variant	NM_015559.3(SETBP1):c.478A>G (p.Lys160Glu)	Intellectual disability, autosomal dominant 29 [RCV001197686]\|not provided [RCV001859195]	uncertain significance	18	44701824	44701824	Human	1	name
40814263	CV967004	single nucleotide variant	NM_015559.3(SETBP1):c.556C>T (p.Gln186Ter)	Intellectual disability [RCV001257735]	likely pathogenic	18	44949896	44949896	Human	2	name
40814265	CV967006	deletion	NM_015559.3(SETBP1):c.2516del (p.Pro839fs)	Intellectual disability [RCV001257736]	likely pathogenic	18	44951853	44951853	Human	2	name
40889917	CV975511	deletion	NM_015559.3(SETBP1):c.2671del (p.Arg891fs)	not provided [RCV001268435]	pathogenic	18	44952011	44952011	Human		name
8555934	CV16070	single nucleotide variant	NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	Fetal akinesia deformation sequence 1 [RCV000855501]\|Intellectual disability, autosomal dominant 29 [RCV001007919]\|SETBP1-related disorder [RCV004532268]\|Schinzel-Giedion syndrome [RCV000001086]\|not provided [RCV000255245]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	18	44951952	44951952	Human	5	name , alternate_id
8555935	CV16071	single nucleotide variant	NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn)	Intellectual disability, autosomal dominant 29 [RCV003147272]\|SETBP1-related disorder [RCV004532269]\|Schinzel-Giedion syndrome [RCV000001087]\|Schinzel-Giedion syndrome [RCV000850599]\|not provided [RCV000727534]	pathogenic	18	44951942	44951942	Human	2	name , alternate_id
8555936	CV16072	single nucleotide variant	NM_015559.3(SETBP1):c.2603A>C (p.Asp868Ala)	Schinzel-Giedion syndrome [RCV000001088]	pathogenic	18	44951943	44951943	Human	1	name
8555937	CV16073	single nucleotide variant	NM_015559.3(SETBP1):c.2609G>A (p.Gly870Asp)	Schinzel-Giedion syndrome [RCV000001089]	pathogenic	18	44951949	44951949	Human	1	name
8555938	CV16074	single nucleotide variant	NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)	SETBP1-related disorder [RCV004532270]\|Schinzel-Giedion syndrome [RCV000001090]\|not provided [RCV001659675]	pathogenic\|not provided	18	44951948	44951948	Human	2	name , alternate_id
9681767	CV167419	single nucleotide variant	NM_015559.3(SETBP1):c.1596G>A (p.Trp532Ter)	Intellectual disability, autosomal dominant 29 [RCV000144901]	pathogenic\|not provided	18	44950936	44950936	Human	1	name
9681825	CV167422	single nucleotide variant	NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter)	Intellectual disability, autosomal dominant 29 [RCV000144904]\|Schinzel-Giedion syndrome [RCV000760256]\|not provided [RCV000255831]	pathogenic	18	44951213	44951213	Human	2	name
9681816	CV167423	single nucleotide variant	NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter)	Intellectual disability, autosomal dominant 29 [RCV000144905]\|SETBP1-related disorder [RCV004532637]\|Schinzel-Giedion syndrome [RCV000763028]\|not provided [RCV000333880]	pathogenic	18	44951216	44951216	Human	2	name , alternate_id
9683775	CV169422	single nucleotide variant	NM_015559.3(SETBP1):c.1223C>G (p.Ala408Gly)	Schinzel-Giedion syndrome [RCV000147455]\|not provided [RCV001850002]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	44950563	44950563	Human	1	name
9683778	CV169425	single nucleotide variant	NM_015559.3(SETBP1):c.2602G>C (p.Asp868His)	Schinzel-Giedion syndrome [RCV000147458]	pathogenic\|likely pathogenic	18	44951942	44951942	Human	1	name
405017253	CV2855920	single nucleotide variant	NM_015559.3(SETBP1):c.1820C>T (p.Thr607Ile)	not provided [RCV003577249]	likely benign\|uncertain significance	18	44951160	44951160	Human		name
405203773	CV2858432	single nucleotide variant	NM_015559.3(SETBP1):c.2056A>C (p.Ser686Arg)	not provided [RCV003551682]	benign\|uncertain significance	18	44951396	44951396	Human		name
405020704	CV2866390	single nucleotide variant	NM_015559.3(SETBP1):c.2257T>C (p.Ser753Pro)	not provided [RCV003577551]	uncertain significance	18	44951597	44951597	Human		name
405206900	CV2874039	single nucleotide variant	NM_015559.3(SETBP1):c.1514C>G (p.Thr505Arg)	not provided [RCV003552057]	uncertain significance	18	44950854	44950854	Human		name
405237822	CV2881292	single nucleotide variant	NM_015559.3(SETBP1):c.2360A>G (p.Asn787Ser)	Inborn genetic diseases [RCV005273725]\|not provided [RCV003556748]	likely benign\|uncertain significance	18	44951700	44951700	Human	1	name
405219645	CV2904035	single nucleotide variant	NM_015559.3(SETBP1):c.1192A>G (p.Ser398Gly)	not provided [RCV003568237]	uncertain significance	18	44950532	44950532	Human		name
405064871	CV2927419	single nucleotide variant	NM_015559.3(SETBP1):c.1532A>T (p.Asp511Val)	not provided [RCV003580743]	uncertain significance	18	44950872	44950872	Human		name
405066914	CV2936710	single nucleotide variant	NM_015559.3(SETBP1):c.2930A>G (p.Tyr977Cys)	not provided [RCV003659180]	uncertain significance	18	44952270	44952270	Human		name
405075882	CV2948597	single nucleotide variant	NM_015559.3(SETBP1):c.2832C>A (p.Ser944Arg)	not provided [RCV003664257]	uncertain significance	18	44952172	44952172	Human		name
405216728	CV2972148	single nucleotide variant	NM_015559.3(SETBP1):c.2234C>A (p.Ala745Asp)	not provided [RCV003680121]	uncertain significance	18	44951574	44951574	Human		name
405231894	CV2974529	single nucleotide variant	NM_015559.3(SETBP1):c.2323G>C (p.Ala775Pro)	not provided [RCV003682344]	uncertain significance	18	44951663	44951663	Human		name
405216969	CV2978244	single nucleotide variant	NM_015559.3(SETBP1):c.1799C>T (p.Thr600Met)	not provided [RCV003709447]	uncertain significance	18	44951139	44951139	Human		name
405214587	CV2981453	single nucleotide variant	NM_015559.3(SETBP1):c.1671G>T (p.Glu557Asp)	not provided [RCV003709147]	benign	18	44951011	44951011	Human		name
405215498	CV2981535	single nucleotide variant	NM_015559.3(SETBP1):c.1532A>G (p.Asp511Gly)	not provided [RCV003709189]	uncertain significance	18	44950872	44950872	Human		name
405231611	CV2988249	single nucleotide variant	NM_015559.3(SETBP1):c.1915G>A (p.Glu639Lys)	not provided [RCV003711515]	uncertain significance	18	44951255	44951255	Human		name
405019327	CV2991950	duplication	NM_015559.3(SETBP1):c.4680dup (p.Ala1561fs)	not provided [RCV003694626]	uncertain significance	18	45063582	45063583	Human		name
405240872	CV3004594	single nucleotide variant	NM_015559.3(SETBP1):c.2765T>A (p.Leu922His)	SETBP1-related disorder [RCV004723421]\|not provided [RCV003719176]	uncertain significance	18	44952105	44952105	Human	1	name , alternate_id
405032563	CV3009138	single nucleotide variant	NM_015559.3(SETBP1):c.1111G>A (p.Gly371Ser)	not provided [RCV003695682]	benign	18	44950451	44950451	Human		name
405241825	CV3014589	single nucleotide variant	NM_015559.3(SETBP1):c.2852T>G (p.Leu951Arg)	not provided [RCV003719361]	uncertain significance	18	44952192	44952192	Human		name
405203614	CV3033334	single nucleotide variant	NM_015559.3(SETBP1):c.2276C>T (p.Pro759Leu)	not provided [RCV003707717]	uncertain significance	18	44951616	44951616	Human		name
405221985	CV3056869	single nucleotide variant	NM_015559.3(SETBP1):c.1286A>G (p.Glu429Gly)	not provided [RCV003733449]	likely benign	18	44950626	44950626	Human		name
405209842	CV3062150	single nucleotide variant	NM_015559.3(SETBP1):c.1516C>G (p.Pro506Ala)	not provided [RCV003731840]	benign\|uncertain significance	18	44950856	44950856	Human		name
405207902	CV3065258	single nucleotide variant	NM_015559.3(SETBP1):c.1432G>A (p.Val478Ile)	not provided [RCV003731575]	benign	18	44950772	44950772	Human		name
405242951	CV3074576	single nucleotide variant	NM_015559.3(SETBP1):c.2246C>A (p.Pro749His)	not provided [RCV003737687]	uncertain significance	18	44951586	44951586	Human		name
405029963	CV3077299	single nucleotide variant	NM_015559.3(SETBP1):c.1498C>T (p.Pro500Ser)	not provided [RCV003739071]	benign\|uncertain significance	18	44950838	44950838	Human		name
405208003	CV3145636	single nucleotide variant	NM_015559.3(SETBP1):c.2782C>G (p.Leu928Val)	not provided [RCV003845366]	benign	18	44952122	44952122	Human		name
405209612	CV3145828	single nucleotide variant	NM_015559.3(SETBP1):c.1891A>G (p.Lys631Glu)	not provided [RCV003845558]	likely benign	18	44951231	44951231	Human		name
405047918	CV3150739	single nucleotide variant	NM_015559.3(SETBP1):c.1276G>T (p.Ala426Ser)	not provided [RCV003849342]	uncertain significance	18	44950616	44950616	Human		name
405231165	CV3157349	single nucleotide variant	NM_015559.3(SETBP1):c.1399T>A (p.Leu467Met)	not provided [RCV003865299]	benign	18	44950739	44950739	Human		name
405245514	CV3161852	single nucleotide variant	NM_015559.3(SETBP1):c.2264A>T (p.Gln755Leu)	not provided [RCV003868565]	uncertain significance	18	44951604	44951604	Human		name
405236199	CV3166438	single nucleotide variant	NM_015559.3(SETBP1):c.1526G>A (p.Cys509Tyr)	not provided [RCV003853887]	uncertain significance	18	44950866	44950866	Human		name
405227900	CV3180277	single nucleotide variant	NM_015559.3(SETBP1):c.1553T>C (p.Leu518Pro)	not provided [RCV003864697]	uncertain significance	18	44950893	44950893	Human		name
405268600	CV3187081	single nucleotide variant	NM_015559.3(SETBP1):c.2885C>T (p.Thr962Ile)	not provided [RCV003887164]	likely benign	18	44952225	44952225	Human		name
405695125	CV3226591	single nucleotide variant	NM_015559.3(SETBP1):c.2179C>T (p.Arg727Trp)	not provided [RCV003992984]	uncertain significance	18	44951519	44951519	Human		name
405761867	CV3311167	single nucleotide variant	NM_015559.3(SETBP1):c.2078A>C (p.Lys693Thr)	Inborn genetic diseases [RCV004455452]	uncertain significance	18	44951418	44951418	Human	1	name
405761874	CV3311168	single nucleotide variant	NM_015559.3(SETBP1):c.2167A>G (p.Ile723Val)	Inborn genetic diseases [RCV004455453]	uncertain significance	18	44951507	44951507	Human	1	name
405761878	CV3311169	single nucleotide variant	NM_015559.3(SETBP1):c.2341A>C (p.Thr781Pro)	Inborn genetic diseases [RCV004455454]	uncertain significance	18	44951681	44951681	Human	1	name
407489438	CV3473766	single nucleotide variant	NM_015559.3(SETBP1):c.2383A>C (p.Thr795Pro)	Inborn genetic diseases [RCV004666051]	uncertain significance	18	44951723	44951723	Human	1	name
407489442	CV3473767	single nucleotide variant	NM_015559.3(SETBP1):c.2413A>G (p.Met805Val)	Inborn genetic diseases [RCV004666052]	uncertain significance	18	44951753	44951753	Human	1	name
407489448	CV3473768	single nucleotide variant	NM_015559.3(SETBP1):c.2431A>T (p.Ile811Phe)	Inborn genetic diseases [RCV004666053]	uncertain significance	18	44951771	44951771	Human	1	name
408377097	CV3500729	single nucleotide variant	NM_015559.3(SETBP1):c.2693C>G (p.Ser898Cys)	Intellectual disability, autosomal dominant 29 [RCV004727214]	uncertain significance	18	44952033	44952033	Human	1	name
408368779	CV3502661	single nucleotide variant	NM_015559.3(SETBP1):c.2654G>T (p.Ser885Ile)	not provided [RCV004723782]	uncertain significance	18	44951994	44951994	Human		name
408369025	CV3507572	single nucleotide variant	NM_015559.3(SETBP1):c.2617A>G (p.Thr873Ala)	SETBP1-related disorder [RCV004736489]	uncertain significance	18	44951957	44951957	Human		name , trait , alternate_id
408392812	CV3519579	single nucleotide variant	NM_015559.3(SETBP1):c.2269G>C (p.Asp757His)	not provided [RCV004763875]	uncertain significance	18	44951609	44951609	Human		name
408385976	CV3520450	single nucleotide variant	NM_015559.3(SETBP1):c.1328T>G (p.Met443Arg)	not provided [RCV004760271]	uncertain significance	18	44950668	44950668	Human		name
408388364	CV3520768	single nucleotide variant	NM_015559.3(SETBP1):c.2207C>T (p.Pro736Leu)	not provided [RCV004761601]	uncertain significance	18	44951547	44951547	Human		name
408389194	CV3522954	single nucleotide variant	NM_015559.3(SETBP1):c.1282G>C (p.Val428Leu)	not provided [RCV004769335]	uncertain significance	18	44950622	44950622	Human		name
408380817	CV3523669	single nucleotide variant	NM_015559.3(SETBP1):c.1776G>T (p.Lys592Asn)	not provided [RCV004766067]	uncertain significance	18	44951116	44951116	Human		name
408385109	CV3526930	single nucleotide variant	NM_015559.3(SETBP1):c.2878C>G (p.Leu960Val)	not provided [RCV004772243]	uncertain significance	18	44952218	44952218	Human		name
408388267	CV3527438	single nucleotide variant	NM_015559.3(SETBP1):c.2527T>G (p.Cys843Gly)	not provided [RCV004773741]	uncertain significance	18	44951867	44951867	Human		name
596924746	CV3532396	single nucleotide variant	NM_015559.3(SETBP1):c.2893C>A (p.Gln965Lys)	not provided [RCV004777507]	uncertain significance	18	44952233	44952233	Human		name
596924771	CV3532414	single nucleotide variant	NM_015559.3(SETBP1):c.1582G>A (p.Ala528Thr)	not provided [RCV004777525]	uncertain significance	18	44950922	44950922	Human		name
596921953	CV3535582	single nucleotide variant	NM_015559.3(SETBP1):c.1928T>A (p.Met643Lys)	Intellectual disability, autosomal dominant 29 [RCV004785137]	uncertain significance	18	44951268	44951268	Human	1	name
596927063	CV3536455	single nucleotide variant	NM_015559.3(SETBP1):c.2618C>G (p.Thr873Arg)	Schinzel-Giedion syndrome [RCV004789863]	uncertain significance	18	44951958	44951958	Human	1	name
596927078	CV3536462	single nucleotide variant	NM_015559.3(SETBP1):c.2608G>T (p.Gly870Cys)	Schinzel-Giedion syndrome [RCV004789870]	pathogenic	18	44951948	44951948	Human	1	name
596928923	CV3540620	single nucleotide variant	NM_015559.3(SETBP1):c.1982A>C (p.Lys661Thr)	not provided [RCV004794948]	uncertain significance	18	44951322	44951322	Human		name
596942486	CV3544134	deletion	NM_015559.3(SETBP1):c.3211del (p.Ala1071fs)	SETBP1-related disorder [RCV004800125]	pathogenic	18	44952551	44952551	Human		name , trait , alternate_id
597633316	CV3552981	single nucleotide variant	NM_015559.3(SETBP1):c.2389A>G (p.Thr797Ala)	not provided [RCV004823811]	uncertain significance	18	44951729	44951729	Human		name
597646056	CV3712646	single nucleotide variant	NM_015559.3(SETBP1):c.2903G>A (p.Arg968Lys)	Schinzel-Giedion syndrome [RCV005026260]	uncertain significance	18	44952243	44952243	Human	1	name
597847471	CV3736717	single nucleotide variant	NM_015559.3(SETBP1):c.1158C>G (p.Asn386Lys)	not provided [RCV005065876]	uncertain significance	18	44950498	44950498	Human		name
597944308	CV3754987	single nucleotide variant	NM_015559.3(SETBP1):c.2223A>T (p.Glu741Asp)	not provided [RCV005078176]	uncertain significance	18	44951563	44951563	Human		name
597948885	CV3759223	single nucleotide variant	NM_015559.3(SETBP1):c.1625T>C (p.Met542Thr)	not provided [RCV005079020]	uncertain significance	18	44950965	44950965	Human		name
597967404	CV3760629	single nucleotide variant	NM_015559.3(SETBP1):c.1331G>C (p.Ser444Thr)	not provided [RCV005083196]	likely benign	18	44950671	44950671	Human		name
597837973	CV3763365	single nucleotide variant	NM_015559.3(SETBP1):c.1251G>C (p.Lys417Asn)	not provided [RCV005110945]	uncertain significance	18	44950591	44950591	Human		name
597845479	CV3765490	single nucleotide variant	NM_015559.3(SETBP1):c.2773G>A (p.Asp925Asn)	not provided [RCV005121134]	uncertain significance	18	44952113	44952113	Human		name
597843467	CV3769208	single nucleotide variant	NM_015559.3(SETBP1):c.2701A>G (p.Asn901Asp)	not provided [RCV005118703]	uncertain significance	18	44952041	44952041	Human		name
597835195	CV3770107	single nucleotide variant	NM_015559.3(SETBP1):c.1565A>G (p.Gln522Arg)	not provided [RCV005105959]	uncertain significance	18	44950905	44950905	Human		name
597847782	CV3775636	single nucleotide variant	NM_015559.3(SETBP1):c.1369G>A (p.Gly457Arg)	not provided [RCV005123367]	uncertain significance	18	44950709	44950709	Human		name
597844221	CV3776672	single nucleotide variant	NM_015559.3(SETBP1):c.1295T>C (p.Met432Thr)	not provided [RCV005119528]	uncertain significance	18	44950635	44950635	Human		name
597858237	CV3777743	single nucleotide variant	NM_015559.3(SETBP1):c.2303T>C (p.Leu768Pro)	not provided [RCV005132656]	uncertain significance	18	44951643	44951643	Human		name
597851173	CV3781871	single nucleotide variant	NM_015559.3(SETBP1):c.2631C>A (p.Ser877Arg)	not provided [RCV005126299]	pathogenic	18	44951971	44951971	Human		name
597851230	CV3781925	single nucleotide variant	NM_015559.3(SETBP1):c.1909C>T (p.Pro637Ser)	not provided [RCV005126353]	uncertain significance	18	44951249	44951249	Human		name
597852867	CV3784713	single nucleotide variant	NM_015559.3(SETBP1):c.1064T>A (p.Val355Asp)	not provided [RCV005127764]	uncertain significance	18	44950404	44950404	Human		name
597852972	CV3784783	single nucleotide variant	NM_015559.3(SETBP1):c.1535A>G (p.His512Arg)	not provided [RCV005127834]	likely benign	18	44950875	44950875	Human		name
597859003	CV3785223	single nucleotide variant	NM_015559.3(SETBP1):c.2714T>C (p.Ile905Thr)	not provided [RCV005133328]	uncertain significance	18	44952054	44952054	Human		name
597858855	CV3788486	single nucleotide variant	NM_015559.3(SETBP1):c.2770G>T (p.Val924Leu)	not provided [RCV005133161]	uncertain significance	18	44952110	44952110	Human		name
597855119	CV3789549	single nucleotide variant	NM_015559.3(SETBP1):c.2321C>A (p.Ala774Glu)	not provided [RCV005129644]	uncertain significance	18	44951661	44951661	Human		name
597860222	CV3789941	single nucleotide variant	NM_015559.3(SETBP1):c.1033C>A (p.Gln345Lys)	not provided [RCV005134642]	likely benign	18	44950373	44950373	Human		name
597868034	CV3790706	single nucleotide variant	NM_015559.3(SETBP1):c.2344C>T (p.Gln782Ter)	not provided [RCV005142921]	pathogenic	18	44951684	44951684	Human		name
597857692	CV3793474	single nucleotide variant	NM_015559.3(SETBP1):c.1543T>C (p.Ser515Pro)	not provided [RCV005132130]	uncertain significance	18	44950883	44950883	Human		name
597865842	CV3794012	deletion	NM_015559.3(SETBP1):c.3560del (p.Ser1187fs)	not provided [RCV005140394]	pathogenic	18	44952900	44952900	Human		name
597864999	CV3795913	single nucleotide variant	NM_015559.3(SETBP1):c.2195G>A (p.Arg732Lys)	not provided [RCV005139403]	uncertain significance	18	44951535	44951535	Human		name
597877439	CV3796448	single nucleotide variant	NM_015559.3(SETBP1):c.2061C>A (p.Ser687Arg)	not provided [RCV005152531]	uncertain significance	18	44951401	44951401	Human		name
597863801	CV3797314	single nucleotide variant	NM_015559.3(SETBP1):c.2446A>G (p.Thr816Ala)	not provided [RCV005138001]	uncertain significance	18	44951786	44951786	Human		name
597869630	CV3798789	single nucleotide variant	NM_015559.3(SETBP1):c.2589G>C (p.Glu863Asp)	not provided [RCV005144378]	uncertain significance	18	44951929	44951929	Human		name
597873760	CV3799926	single nucleotide variant	NM_015559.3(SETBP1):c.1268C>T (p.Ser423Phe)	not provided [RCV005148340]	uncertain significance	18	44950608	44950608	Human		name
597852480	CV3800247	single nucleotide variant	NM_015559.3(SETBP1):c.2248A>T (p.Arg750Trp)	not provided [RCV005127419]	uncertain significance	18	44951588	44951588	Human		name
597883508	CV3808343	single nucleotide variant	NM_015559.3(SETBP1):c.1945C>T (p.His649Tyr)	not provided [RCV005158531]	benign	18	44951285	44951285	Human		name
597880580	CV3811799	single nucleotide variant	NM_015559.3(SETBP1):c.2114T>C (p.Ile705Thr)	not provided [RCV005155630]	uncertain significance	18	44951454	44951454	Human		name
597872312	CV3814159	single nucleotide variant	NM_015559.3(SETBP1):c.1327A>G (p.Met443Val)	not provided [RCV005147228]	uncertain significance	18	44950667	44950667	Human		name
597893352	CV3820670	single nucleotide variant	NM_015559.3(SETBP1):c.2722G>T (p.Asp908Tyr)	not provided [RCV005168187]	uncertain significance	18	44952062	44952062	Human		name
597895434	CV3830905	single nucleotide variant	NM_015559.3(SETBP1):c.2056A>T (p.Ser686Cys)	not provided [RCV005170303]	uncertain significance	18	44951396	44951396	Human		name
597901937	CV3835520	single nucleotide variant	NM_015559.3(SETBP1):c.1022A>G (p.Asp341Gly)	not provided [RCV005176512]	uncertain significance	18	44950362	44950362	Human		name
597912354	CV3836493	single nucleotide variant	NM_015559.3(SETBP1):c.2788C>T (p.His930Tyr)	not provided [RCV005187514]	benign	18	44952128	44952128	Human		name
597912858	CV3836629	single nucleotide variant	NM_015559.3(SETBP1):c.1367A>C (p.Glu456Ala)	not provided [RCV005187650]	uncertain significance	18	44950707	44950707	Human		name
597904442	CV3839075	single nucleotide variant	NM_015559.3(SETBP1):c.1676C>T (p.Pro559Leu)	not provided [RCV005179160]	uncertain significance	18	44951016	44951016	Human		name
597916575	CV3841913	single nucleotide variant	NM_015559.3(SETBP1):c.1637C>A (p.Ala546Glu)	not provided [RCV005191410]	uncertain significance	18	44950977	44950977	Human		name
597904343	CV3842389	single nucleotide variant	NM_015559.3(SETBP1):c.2663C>T (p.Ser888Phe)	not provided [RCV005179024]	uncertain significance	18	44952003	44952003	Human		name
597907309	CV3842883	single nucleotide variant	NM_015559.3(SETBP1):c.2649G>T (p.Glu883Asp)	not provided [RCV005182190]	uncertain significance	18	44951989	44951989	Human		name
597915869	CV3843838	single nucleotide variant	NM_015559.3(SETBP1):c.1943T>G (p.Phe648Cys)	not provided [RCV005190700]	uncertain significance	18	44951283	44951283	Human		name
597908513	CV3845681	single nucleotide variant	NM_015559.3(SETBP1):c.1409T>C (p.Met470Thr)	not provided [RCV005183476]	likely benign	18	44950749	44950749	Human		name
597917255	CV3848490	single nucleotide variant	NM_015559.3(SETBP1):c.2066C>T (p.Ala689Val)	not provided [RCV005192191]	uncertain significance	18	44951406	44951406	Human		name
597920508	CV3849852	single nucleotide variant	NM_015559.3(SETBP1):c.1624A>C (p.Met542Leu)	not provided [RCV005195361]	uncertain significance	18	44950964	44950964	Human		name
597920518	CV3849853	single nucleotide variant	NM_015559.3(SETBP1):c.1897G>T (p.Ala633Ser)	not provided [RCV005195362]	uncertain significance	18	44951237	44951237	Human		name
597920637	CV3850118	single nucleotide variant	NM_015559.3(SETBP1):c.2685T>A (p.Asp895Glu)	not provided [RCV005195450]	benign	18	44952025	44952025	Human		name
597920856	CV3850321	single nucleotide variant	NM_015559.3(SETBP1):c.1880G>T (p.Arg627Leu)	not provided [RCV005195654]	uncertain significance	18	44951220	44951220	Human		name
597928624	CV3853456	single nucleotide variant	NM_015559.3(SETBP1):c.2198C>T (p.Ala733Val)	not provided [RCV005202934]	uncertain significance	18	44951538	44951538	Human		name
597919773	CV3855685	single nucleotide variant	NM_015559.3(SETBP1):c.2416C>T (p.Pro806Ser)	not provided [RCV005194665]	uncertain significance	18	44951756	44951756	Human		name
597931492	CV3863490	single nucleotide variant	NM_015559.3(SETBP1):c.1256A>G (p.Lys419Arg)	not provided [RCV005205815]	uncertain significance	18	44950596	44950596	Human		name
598125792	CV3885936	single nucleotide variant	NM_015559.3(SETBP1):c.2571C>A (p.Ser857Arg)	not provided [RCV005241739]	uncertain significance	18	44951911	44951911	Human		name
598224369	CV3892012	single nucleotide variant	NM_015559.3(SETBP1):c.2893C>T (p.Gln965Ter)	Intellectual disability, autosomal dominant 29 [RCV005253351]	likely pathogenic	18	44952233	44952233	Human	1	name
598226709	CV3900583	single nucleotide variant	NM_015559.3(SETBP1):c.1024G>A (p.Val342Met)	Inborn genetic diseases [RCV005273550]	uncertain significance	18	44950364	44950364	Human	1	name
598226734	CV3900589	single nucleotide variant	NM_015559.3(SETBP1):c.1655A>C (p.Asp552Ala)	Inborn genetic diseases [RCV005273556]	uncertain significance	18	44950995	44950995	Human	1	name
8636504	CV91729	single nucleotide variant	NM_015559.2(SETBP1):c.2947C>T (p.Pro983Ser)	Malignant melanoma [RCV000071827]	not provided	18	44952287	44952287	Human		name
40887592	CV972987	single nucleotide variant	NM_015559.3(SETBP1):c.2561C>T (p.Ser854Phe)	Intellectual disability, autosomal dominant 29 [RCV001265336]\|not provided [RCV002537676]	likely pathogenic\|uncertain significance	18	44951901	44951901	Human	1	name
40887557	CV972988	single nucleotide variant	NM_015559.3(SETBP1):c.2621A>G (p.Asp874Gly)	Intellectual disability, autosomal dominant 29 [RCV001265287]	pathogenic	18	44951961	44951961	Human	1	name
40887559	CV972989	single nucleotide variant	NM_015559.3(SETBP1):c.2699A>G (p.Asp900Gly)	Intellectual disability, autosomal dominant 29 [RCV001265288]\|not provided [RCV005094267]	uncertain significance	18	44952039	44952039	Human	1	name
40887561	CV972990	single nucleotide variant	NM_015559.3(SETBP1):c.2870T>C (p.Leu957Pro)	Intellectual disability, autosomal dominant 29 [RCV001265290]	uncertain significance	18	44952210	44952210	Human	1	name
40887860	CV974126	single nucleotide variant	NM_015559.3(SETBP1):c.1300G>C (p.Glu434Gln)	Inborn genetic diseases [RCV001267420]\|not provided [RCV005057193]	uncertain significance	18	44950640	44950640	Human	1	name
40889776	CV975512	duplication	NM_015559.3(SETBP1):c.3151dup (p.Tyr1051fs)	not provided [RCV001268239]	likely pathogenic	18	44952490	44952491	Human		name
40903522	CV977290	single nucleotide variant	NM_015559.3(SETBP1):c.2561C>A (p.Ser854Tyr)	Inborn genetic diseases [RCV003353268]\|Schinzel-Giedion syndrome [RCV001270830]	likely pathogenic\|uncertain significance	18	44951901	44951901	Human	2	name
41405682	CV982141	single nucleotide variant	NM_015559.3(SETBP1):c.2309C>G (p.Ala770Gly)	not provided [RCV001813136]	uncertain significance	18	44951649	44951649	Human		name
126739484	CV1021756	single nucleotide variant	NM_015559.3(SETBP1):c.1990A>G (p.Lys664Glu)	Intellectual disability, autosomal dominant 29 [RCV001335765]\|SETBP1-related disorder [RCV005256774]	uncertain significance	18	44951330	44951330	Human	1	alternate_id
150414559	CV1178261	single nucleotide variant	NM_015559.3(SETBP1):c.2062G>A (p.Val688Ile)	Inborn genetic diseases [RCV004039288]\|SETBP1-related disorder [RCV004734228]\|Schinzel-Giedion syndrome [RCV002501885]\|not provided [RCV001548186]	benign\|likely benign	18	44951402	44951402	Human	3	alternate_id
150548396	CV1316300	single nucleotide variant	NM_015559.3(SETBP1):c.3808G>A (p.Gly1270Ser)	SETBP1-related disorder [RCV004536311]\|not provided [RCV001786101]\|not specified [RCV004998958]	benign\|likely benign	18	44953148	44953148	Human	1	alternate_id
151663658	CV1334124	single nucleotide variant	NM_015559.3(SETBP1):c.2741G>A (p.Arg914Gln)	Inborn genetic diseases [RCV004041043]\|Intellectual disability, autosomal dominant 29 [RCV001839298]\|SETBP1-related disorder [RCV004529023]\|not provided [RCV002074398]	likely benign\|uncertain significance	18	44952081	44952081	Human	2	alternate_id
151818994	CV1337732	single nucleotide variant	NM_015559.3(SETBP1):c.4058G>T (p.Gly1353Val)	Inborn genetic diseases [RCV002558444]\|SETBP1-related disorder [RCV004734346]\|not provided [RCV001919376]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	45038542	45038542	Human	2	alternate_id
151756730	CV1381980	single nucleotide variant	NM_015559.3(SETBP1):c.1228T>C (p.Ser410Pro)	SETBP1-related disorder [RCV004538662]\|not provided [RCV001969735]	benign\|uncertain significance	18	44950568	44950568	Human	1	alternate_id
151840427	CV1407892	single nucleotide variant	NM_015559.3(SETBP1):c.3233C>T (p.Thr1078Met)	Inborn genetic diseases [RCV004953258]\|SETBP1-related disorder [RCV004734314]\|not provided [RCV001881286]	likely benign\|uncertain significance	18	44952573	44952573	Human	2	alternate_id
151846439	CV1423788	single nucleotide variant	NM_015559.3(SETBP1):c.1910C>T (p.Pro637Leu)	SETBP1-related disorder [RCV004538702]\|not provided [RCV001995395]	conflicting interpretations of pathogenicity\|uncertain significance	18	44951250	44951250	Human	1	alternate_id
151775269	CV1424242	deletion	NM_015559.3(SETBP1):c.507_521del (p.Ala170_Leu174del)	SETBP1-related disorder [RCV004538729]\|not provided [RCV002025748]	benign\|likely benign\|uncertain significance	18	44869237	44869251	Human	1	alternate_id
151805447	CV1427137	single nucleotide variant	NM_015559.3(SETBP1):c.4307C>T (p.Ala1436Val)	Inborn genetic diseases [RCV004040513]\|SETBP1-related disorder [RCV004536395]\|not provided [RCV001899456]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	45063214	45063214	Human	2	alternate_id
151731604	CV1454238	single nucleotide variant	NM_015559.3(SETBP1):c.4389G>C (p.Gln1463His)	Inborn genetic diseases [RCV003167318]\|SETBP1-related disorder [RCV004538638]\|not provided [RCV001967167]	benign\|uncertain significance	18	45063296	45063296	Human	2	alternate_id
151876004	CV1489922	single nucleotide variant	NM_015559.3(SETBP1):c.2864C>A (p.Ala955Glu)	Inborn genetic diseases [RCV004955848]\|SETBP1-related disorder [RCV004734341]\|not provided [RCV001940405]	likely benign\|uncertain significance	18	44952204	44952204	Human	2	alternate_id
151858006	CV1503424	single nucleotide variant	NM_015559.3(SETBP1):c.3313G>A (p.Gly1105Ser)	SETBP1-related disorder [RCV004538667]\|not provided [RCV001996773]	benign\|likely benign\|uncertain significance	18	44952653	44952653	Human	1	alternate_id
152126908	CV1528142	single nucleotide variant	NM_015559.3(SETBP1):c.1159G>A (p.Val387Met)	Inborn genetic diseases [RCV003365697]\|SETBP1-related disorder [RCV004734458]\|not provided [RCV002098944]	benign\|likely benign	18	44950499	44950499	Human	2	alternate_id
152123330	CV1546173	single nucleotide variant	NM_015559.3(SETBP1):c.3731A>G (p.Gln1244Arg)	SETBP1-related disorder [RCV004543823]\|not provided [RCV002118126]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	44953071	44953071	Human	1	alternate_id
152066002	CV1565042	single nucleotide variant	NM_015559.3(SETBP1):c.1150A>G (p.Arg384Gly)	SETBP1-related disorder [RCV004531346]\|not provided [RCV002090927]	likely benign	18	44950490	44950490	Human	1	alternate_id
9683785	CV169432	single nucleotide variant	NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu)	SETBP1-related disorder [RCV004532661]\|Schinzel-Giedion syndrome [RCV003315935]\|not provided [RCV000864232]\|not specified [RCV000147465]	benign\|likely benign	18	45038613	45038613	Human	2	alternate_id
155707425	CV1772733	single nucleotide variant	NM_015559.3(SETBP1):c.4777G>A (p.Glu1593Lys)	SETBP1-related disorder [RCV004725220]\|not provided [RCV002300388]	uncertain significance	18	45063684	45063684	Human	1	alternate_id
156355849	CV1930217	single nucleotide variant	NM_015559.3(SETBP1):c.3763C>T (p.Pro1255Ser)	SETBP1-related disorder [RCV004529222]\|not provided [RCV002651270]	uncertain significance	18	44953103	44953103	Human	1	alternate_id
156069692	CV1952610	single nucleotide variant	NM_015559.3(SETBP1):c.4037C>A (p.Ala1346Glu)	SETBP1-related disorder [RCV004736175]\|not provided [RCV002569567]	uncertain significance	18	45038521	45038521	Human	1	alternate_id
156093666	CV2106308	single nucleotide variant	NM_015559.3(SETBP1):c.1153C>G (p.Gln385Glu)	SETBP1-related disorder [RCV004545442]\|not provided [RCV002952459]	likely benign	18	44950493	44950493	Human	1	alternate_id
156010269	CV2362099	single nucleotide variant	NM_015559.3(SETBP1):c.3712G>A (p.Asp1238Asn)	Inborn genetic diseases [RCV002997753]\|SETBP1-related disorder [RCV004736296]\|not provided [RCV003548937]	benign\|uncertain significance	18	44953052	44953052	Human	2	alternate_id
156435213	CV2403458	single nucleotide variant	NM_015559.3(SETBP1):c.1588C>T (p.Arg530Ter)	Developmental disorder [RCV003127394]\|Intellectual disability, autosomal dominant 29 [RCV003223444]\|SETBP1-related disorder [RCV004538897]\|not provided [RCV004794624]	pathogenic	18	44950928	44950928	Human	2	alternate_id
401724040	CV2737947	single nucleotide variant	NM_015559.3(SETBP1):c.2607C>G (p.Ser869Arg)	SETBP1-related disorder [RCV004701034]\|Schinzel-Giedion syndrome [RCV003315119]	pathogenic\|likely pathogenic	18	44951947	44951947	Human	2	alternate_id
401919660	CV2796357	single nucleotide variant	NM_015559.3(SETBP1):c.3852G>T (p.Met1284Ile)	SETBP1-related disorder [RCV004527903]	uncertain significance	18	44953192	44953192	Human		trait , alternate_id
401933862	CV2797853	single nucleotide variant	NM_015559.3(SETBP1):c.4360C>A (p.Arg1454Ser)	SETBP1-related disorder [RCV004534355]	uncertain significance	18	45063267	45063267	Human		trait , alternate_id
401914024	CV2799176	single nucleotide variant	NM_015559.3(SETBP1):c.4081A>G (p.Arg1361Gly)	SETBP1-related disorder [RCV004529332]	uncertain significance	18	45038565	45038565	Human		trait , alternate_id
401933676	CV2799430	single nucleotide variant	NM_015559.3(SETBP1):c.1466T>C (p.Val489Ala)	SETBP1-related disorder [RCV004534272]	uncertain significance	18	44950806	44950806	Human		trait , alternate_id
401907158	CV2800122	single nucleotide variant	NM_015559.3(SETBP1):c.4766G>A (p.Gly1589Glu)	Inborn genetic diseases [RCV005273669]\|SETBP1-related disorder [RCV004529638]	uncertain significance	18	45063673	45063673	Human	2	alternate_id
401931718	CV2801620	duplication	NM_015559.3(SETBP1):c.4584_4607dup (p.Pro1543_Leu1544insProProLeuProProProProPro)	SETBP1-related disorder [RCV004529274]	uncertain significance	18	45063488	45063489	Human		trait , alternate_id
401931891	CV2801642	single nucleotide variant	NM_015559.3(SETBP1):c.2606G>A (p.Ser869Asn)	SETBP1-related disorder [RCV004531627]	pathogenic	18	44951946	44951946	Human		trait , alternate_id
401936307	CV2803131	single nucleotide variant	NM_015559.3(SETBP1):c.4703C>A (p.Pro1568His)	SETBP1-related disorder [RCV004538993]	uncertain significance	18	45063610	45063610	Human		trait , alternate_id
401932667	CV2804346	single nucleotide variant	NM_015559.3(SETBP1):c.3830A>G (p.Asn1277Ser)	SETBP1-related disorder [RCV004531755]	uncertain significance	18	44953170	44953170	Human		trait , alternate_id
11619197	CV341610	single nucleotide variant	NM_015559.3(SETBP1):c.1828G>A (p.Val610Ile)	Inborn genetic diseases [RCV003061774]\|SETBP1-related disorder [RCV004531479]\|not provided [RCV002128758]	likely benign	18	44951168	44951168	Human	2	alternate_id
11623390	CV341617	single nucleotide variant	NM_015559.3(SETBP1):c.3883G>A (p.Val1295Met)	SETBP1-related disorder [RCV004734249]\|Schinzel-Giedion syndrome [RCV003316847]\|not provided [RCV001720374]	benign\|likely benign	18	44953223	44953223	Human	2	alternate_id
408368686	CV3514054	single nucleotide variant	NM_015559.3(SETBP1):c.4615C>T (p.Pro1539Ser)	SETBP1-related disorder [RCV004735333]	likely pathogenic	18	45063522	45063522	Human		trait , alternate_id
13480642	CV442029	single nucleotide variant	NM_015559.3(SETBP1):c.3790T>G (p.Ser1264Ala)	SETBP1-related disorder [RCV004537859]\|not provided [RCV000952766]\|not specified [RCV000517344]	benign\|likely benign	18	44953130	44953130	Human	1	alternate_id
13833658	CV584895	single nucleotide variant	NM_015559.3(SETBP1):c.3364A>T (p.Ser1122Cys)	SETBP1-related disorder [RCV004735774]\|not provided [RCV000728984]	uncertain significance	18	44952704	44952704	Human	1	alternate_id
15112398	CV694275	single nucleotide variant	NM_015559.3(SETBP1):c.1880G>A (p.Arg627His)	SETBP1-related disorder [RCV004540242]\|not provided [RCV000872522]	benign\|likely benign	18	44951220	44951220	Human	1	alternate_id
15184659	CV727719	single nucleotide variant	NM_015559.3(SETBP1):c.3593C>T (p.Pro1198Leu)	Intellectual disability, autosomal dominant 29 [RCV001291723]\|SETBP1-related disorder [RCV004735863]\|not provided [RCV000886498]	benign\|likely benign\|uncertain significance	18	44952933	44952933	Human	1	alternate_id
21073057	CV791861	single nucleotide variant	NM_015559.3(SETBP1):c.4202G>A (p.Arg1401Gln)	SETBP1-related disorder [RCV004528324]\|Schinzel-Giedion syndrome [RCV000990091]\|not provided [RCV002549736]	likely benign\|uncertain significance	18	45063109	45063109	Human	2	alternate_id
28876966	CV860480	single nucleotide variant	NM_015559.3(SETBP1):c.2267C>T (p.Pro756Leu)	SETBP1-related disorder [RCV004545048]\|not provided [RCV001090350]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	44951607	44951607	Human	1	alternate_id
11619484	CV331273	insertion	NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT	Schinzel-Giedion syndrome [RCV000326176]\|not provided [RCV001660675]\|not specified [RCV000454687]	benign	18	44876705	44876706	Human	1	name
152099162	CV1650459	indel	NM_015559.3(SETBP1):c.487-37393_487-37392delinsTC	not provided [RCV002115095]	likely benign	18	44831837	44831838	Human		name

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