Brsk2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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240 records found for search term Brsk2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150459905	CV1268410	single nucleotide variant	NM_001256627.2(BRSK2):c.-14C>T	not provided [RCV001693407]	benign	11	1390271	1390271	Human		name
405277023	CV3198744	duplication	NM_001256627.2(BRSK2):c.*238dup	BRSK2-related disorder [RCV004536966]	likely benign	11	1460960	1460961	Human		name , trait , alternate_id
405272842	CV3201332	single nucleotide variant	NM_001256627.2(BRSK2):c.92-4G>A	BRSK2-related disorder [RCV004531874]	likely benign	11	1436036	1436036	Human		name , trait , alternate_id
407488408	CV3421542	single nucleotide variant	NM_001256627.2(BRSK2):c.*258A>G	Inborn genetic diseases [RCV004603969]	uncertain significance	11	1460981	1460981	Human	1	name
15108511	CV730752	single nucleotide variant	NM_001256627.2(BRSK2):c.92-3C>T	BRSK2-related disorder [RCV004530987]\|not provided [RCV000893682]	benign\|likely benign	11	1436037	1436037	Human		name , trait , alternate_id
155957731	CV2282104	single nucleotide variant	NM_001256627.2(BRSK2):c.978-1G>C	Inborn genetic diseases [RCV002841009]	pathogenic	11	1445570	1445570	Human	1	name
401885421	CV2768153	single nucleotide variant	NM_001256627.2(BRSK2):c.531-4G>A	Inborn genetic diseases [RCV003366535]	likely benign	11	1443102	1443102	Human	1	name
401909953	CV2806633	single nucleotide variant	NM_001256627.2(BRSK2):c.273-7C>T	not provided [RCV003424730]	likely benign	11	1440781	1440781	Human		name
405292611	CV3192539	single nucleotide variant	NM_001256627.2(BRSK2):c.813-8G>A	BRSK2-related disorder [RCV004532072]	likely benign	11	1445286	1445286	Human		name , trait , alternate_id
405273180	CV3197691	single nucleotide variant	NM_001256627.2(BRSK2):c.531-5C>T	BRSK2-related disorder [RCV004531913]	likely benign	11	1443101	1443101	Human		name , trait , alternate_id
405271639	CV3202893	single nucleotide variant	NM_001256627.2(BRSK2):c.812+9C>T	BRSK2-related disorder [RCV004539347]	likely benign	11	1445011	1445011	Human		name , trait , alternate_id
405292808	CV3217426	single nucleotide variant	NM_001256627.2(BRSK2):c.978-7G>A	BRSK2-related disorder [RCV004542467]	likely benign	11	1445564	1445564	Human		name , trait , alternate_id
596947445	CV3549000	single nucleotide variant	NM_001256627.2(BRSK2):c.977+5G>A	not provided [RCV004811324]	uncertain significance	11	1445463	1445463	Human		name
13506583	CV480425	single nucleotide variant	NM_001256627.2(BRSK2):c.530+1G>A	not specified [RCV000576373]	pathogenic\|uncertain significance	11	1442607	1442607	Human		name
150413401	CV1191177	deletion	NM_001256627.2(BRSK2):c.1987+2del	not provided [RCV001567183]	likely pathogenic	11	1459241	1459241	Human		name
150466235	CV1268739	single nucleotide variant	NM_001256627.2(BRSK2):c.564+13C>T	not provided [RCV001694436]	benign	11	1443152	1443152	Human		name
153304435	CV1687014	single nucleotide variant	NM_001256627.2(BRSK2):c.1076-3C>T	BRSK2-related disorder [RCV004729123]\|not provided [RCV002262302]	likely benign\|uncertain significance	11	1445754	1445754	Human		name , trait , alternate_id
405270128	CV3187622	single nucleotide variant	NM_001256627.2(BRSK2):c.1496-3C>A	not provided [RCV003887706]	uncertain significance	11	1451368	1451368	Human		name
405279003	CV3220532	single nucleotide variant	NM_001256627.2(BRSK2):c.1545-9A>G	BRSK2-related disorder [RCV004540878]	benign	11	1454476	1454476	Human		name , trait , alternate_id
407453995	CV3416436	single nucleotide variant	NM_001256627.2(BRSK2):c.1669-4A>G	not provided [RCV004597694]	benign	11	1456344	1456344	Human		name
15128905	CV760020	single nucleotide variant	NM_001256627.2(BRSK2):c.1288-6A>G	not provided [RCV000919734]	likely benign	11	1450581	1450581	Human		name
150432215	CV1236686	single nucleotide variant	NM_001256627.2(BRSK2):c.1849+10C>T	BRSK2-related disorder [RCV004542056]\|not provided [RCV001642090]	benign	11	1456538	1456538	Human		name , trait , alternate_id
153304437	CV1687016	single nucleotide variant	NM_001256627.2(BRSK2):c.1288-57C>G	not provided [RCV002262304]	benign	11	1450530	1450530	Human		name
155641367	CV1709686	single nucleotide variant	NM_001256627.2(BRSK2):c.1288-65G>A	not provided [RCV002292786]	benign\|likely benign	11	1450522	1450522	Human		name
401829242	CV2743625	single nucleotide variant	NM_001256627.2(BRSK2):c.1288-92C>T	not provided [RCV003326801]	likely benign	11	1450495	1450495	Human		name
401909983	CV2806648	duplication	NM_001256627.2(BRSK2):c.1288-54dup	not provided [RCV003424745]	likely benign	11	1450526	1450527	Human		name
405273845	CV3198289	single nucleotide variant	NM_001256627.2(BRSK2):c.1076-10C>T	BRSK2-related disorder [RCV004534595]	likely benign	11	1445747	1445747	Human		name , trait , alternate_id
152079698	CV1666828	single nucleotide variant	NM_001256627.2(BRSK2):c.1939+343G>A	not provided [RCV002211173]	uncertain significance	11	1457030	1457030	Human		name
153304436	CV1687015	single nucleotide variant	NM_001256627.2(BRSK2):c.1288-234G>A	not provided [RCV002262303]	benign	11	1450353	1450353	Human		name
155267009	CV1699384	single nucleotide variant	NM_001256627.2(BRSK2):c.1939+300G>A	not provided [RCV002283179]	uncertain significance	11	1456987	1456987	Human		name
155641366	CV1709685	single nucleotide variant	NM_001256627.2(BRSK2):c.1288-326C>T	not provided [RCV002292785]	benign\|likely benign	11	1450261	1450261	Human		name
401937617	CV2798824	single nucleotide variant	NM_001256627.2(BRSK2):c.91+21210C>T	BRSK2-related disorder [RCV004528613]	uncertain significance	11	1411585	1411585	Human		name , trait , alternate_id
401933723	CV2799703	single nucleotide variant	NM_001256627.2(BRSK2):c.91+21048C>T	BRSK2-related disorder [RCV004534311]	uncertain significance	11	1411423	1411423	Human		name , trait , alternate_id
401909977	CV2806645	single nucleotide variant	NM_001256627.2(BRSK2):c.1288-252G>A	not provided [RCV003424742]	likely benign	11	1450335	1450335	Human		name
401909979	CV2806646	single nucleotide variant	NM_001256627.2(BRSK2):c.1288-200C>T	not provided [RCV003424743]	benign	11	1450387	1450387	Human		name
401909981	CV2806647	single nucleotide variant	NM_001256627.2(BRSK2):c.1288-110G>A	not provided [RCV003424744]	benign	11	1450477	1450477	Human		name
401943055	CV2839959	single nucleotide variant	NM_001256627.2(BRSK2):c.91+21149C>T	not provided [RCV003456746]	likely benign	11	1411524	1411524	Human		name
405259248	CV3194658	single nucleotide variant	NM_001256627.2(BRSK2):c.91+21070G>A	BRSK2-related disorder [RCV004531969]	uncertain significance	11	1411445	1411445	Human		name , trait , alternate_id
405284567	CV3196971	single nucleotide variant	NM_001256627.2(BRSK2):c.91+21086T>C	BRSK2-related disorder [RCV004542536]	benign	11	1411461	1411461	Human		name , trait , alternate_id
405257919	CV3207958	single nucleotide variant	NM_001256627.2(BRSK2):c.91+21197C>T	BRSK2-related disorder [RCV004532132]\|not provided [RCV004598295]	likely benign	11	1411572	1411572	Human		name , trait , alternate_id
405271143	CV3209323	single nucleotide variant	NM_001256627.2(BRSK2):c.91+21020G>A	BRSK2-related disorder [RCV004543957]	likely benign	11	1411395	1411395	Human		name , trait , alternate_id
405279663	CV3217644	single nucleotide variant	NM_001256627.2(BRSK2):c.91+21104C>G	BRSK2-related disorder [RCV004542485]	likely benign	11	1411479	1411479	Human		name , trait , alternate_id
596947888	CV3547476	single nucleotide variant	NM_001256627.2(BRSK2):c.1939+264G>A	not provided [RCV004811780]	likely benign	11	1456951	1456951	Human		name
151736117	CV1387676	deletion	NM_001256627.2(BRSK2):c.1940-3_1940-2del	not provided [RCV002005320]	likely pathogenic	11	1459189	1459190	Human		name
401916513	CV2831139	microsatellite	NM_001256627.2(BRSK2):c.91+21243CAGCC[3]	not provided [RCV003443408]	uncertain significance	11	1411617	1411618	Human		name
329376422	CV2425132	single nucleotide variant	NM_001256627.2(BRSK2):c.19G>A (p.Asp7Asn)	BRSK2-related disorder [RCV004538918]\|Inborn genetic diseases [RCV003174173]	uncertain significance	11	1390303	1390303	Human	1	name , trait , alternate_id
405698075	CV3226935	single nucleotide variant	NM_001256627.2(BRSK2):c.120C>T (p.Val40=)	not provided [RCV003993329]	likely benign	11	1436068	1436068	Human		name
405708765	CV3298311	single nucleotide variant	NM_001256627.2(BRSK2):c.25G>A (p.Gly9Ser)	Inborn genetic diseases [RCV004426481]	uncertain significance	11	1390309	1390309	Human	1	name
408369641	CV3513160	single nucleotide variant	NM_001256627.2(BRSK2):c.291C>T (p.His97=)	BRSK2-related disorder [RCV004737029]	likely benign	11	1440806	1440806	Human		name , trait , alternate_id
152079682	CV1666825	single nucleotide variant	NM_001256627.2(BRSK2):c.594C>T (p.Asp198=)	not provided [RCV002211170]	likely benign	11	1443364	1443364	Human		name
153304434	CV1687013	single nucleotide variant	NM_001256627.2(BRSK2):c.955C>T (p.Leu319=)	not provided [RCV002262301]	likely benign	11	1445436	1445436	Human		name
243050362	CV2419617	single nucleotide variant	NM_001256627.2(BRSK2):c.97G>A (p.Val33Met)	not provided [RCV003156549]	uncertain significance	11	1436045	1436045	Human		name
329351295	CV2476456	single nucleotide variant	NM_001256627.2(BRSK2):c.342G>A (p.Thr114=)	not provided [RCV003222688]	likely benign	11	1440857	1440857	Human		name
329954740	CV2670669	single nucleotide variant	NM_001256627.2(BRSK2):c.82G>C (p.Gly28Arg)	not provided [RCV003235937]	uncertain significance	11	1390366	1390366	Human		name
401724574	CV2735740	single nucleotide variant	NM_001256627.2(BRSK2):c.450C>T (p.Asp150=)	not provided [RCV003312183]	likely benign	11	1442526	1442526	Human		name
401909955	CV2806634	single nucleotide variant	NM_001256627.2(BRSK2):c.327G>A (p.Lys109=)	not provided [RCV003424731]	likely benign	11	1440842	1440842	Human		name
401909957	CV2806635	single nucleotide variant	NM_001256627.2(BRSK2):c.549C>T (p.Cys183=)	not provided [RCV003424732]	likely benign	11	1443124	1443124	Human		name
401909959	CV2806636	single nucleotide variant	NM_001256627.2(BRSK2):c.616C>T (p.Leu206=)	not provided [RCV003424733]	likely benign	11	1443386	1443386	Human		name
401909961	CV2806637	single nucleotide variant	NM_001256627.2(BRSK2):c.849T>C (p.Ile283=)	not provided [RCV003424734]	likely benign	11	1445330	1445330	Human		name
401909962	CV2806638	single nucleotide variant	NM_001256627.2(BRSK2):c.894C>T (p.Ile298=)	not provided [RCV003424735]	likely benign	11	1445375	1445375	Human		name
401909964	CV2806639	single nucleotide variant	NM_001256627.2(BRSK2):c.900C>T (p.Pro300=)	BRSK2-related disorder [RCV004536785]\|not provided [RCV003424736]	benign\|likely benign	11	1445381	1445381	Human		name , trait , alternate_id
405264874	CV3185388	single nucleotide variant	NM_001256627.2(BRSK2):c.831C>T (p.Pro277=)	not provided [RCV003885952]	likely benign	11	1445312	1445312	Human		name
405285901	CV3191959	single nucleotide variant	NM_001256627.2(BRSK2):c.606C>T (p.Cys202=)	BRSK2-related disorder [RCV004539508]	likely benign	11	1443376	1443376	Human		name , trait , alternate_id
405283545	CV3202704	single nucleotide variant	NM_001256627.2(BRSK2):c.984C>T (p.Asn328=)	BRSK2-related disorder [RCV004539323]	likely benign	11	1445577	1445577	Human		name , trait , alternate_id
405284230	CV3213655	single nucleotide variant	NM_001256627.2(BRSK2):c.489G>A (p.Ala163=)	BRSK2-related disorder [RCV004539457]	benign	11	1442565	1442565	Human		name , trait , alternate_id
405873426	CV3398553	single nucleotide variant	NM_001256627.2(BRSK2):c.537C>T (p.Pro179=)	not provided [RCV004576049]	likely benign	11	1443112	1443112	Human		name
596924419	CV3532257	single nucleotide variant	NM_001256627.2(BRSK2):c.62T>A (p.Leu21Gln)	not provided [RCV004777368]	uncertain significance	11	1390346	1390346	Human		name
596948287	CV3549369	single nucleotide variant	NM_001256627.2(BRSK2):c.664C>A (p.Arg222=)	not provided [RCV004812189]	likely benign	11	1443519	1443519	Human		name
150555327	CV1297775	single nucleotide variant	NM_001256627.2(BRSK2):c.155G>C (p.Arg52Pro)	not provided [RCV001772683]	uncertain significance	11	1436103	1436103	Human		name
151352782	CV1326033	single nucleotide variant	NM_001256627.2(BRSK2):c.1353G>A (p.Thr451=)	not provided [RCV001815716]	likely benign	11	1450652	1450652	Human		name
153304438	CV1687017	single nucleotide variant	NM_001256627.2(BRSK2):c.1377G>A (p.Thr459=)	BRSK2-related disorder [RCV004545268]\|not provided [RCV002262305]	benign\|likely benign	11	1450676	1450676	Human		name , trait , alternate_id
153304440	CV1687018	single nucleotide variant	NM_001256627.2(BRSK2):c.1815C>T (p.Asn605=)	not provided [RCV002262306]	likely benign	11	1456494	1456494	Human		name
153301090	CV1688934	single nucleotide variant	NM_001256627.2(BRSK2):c.182T>C (p.Met61Thr)	BRSK2-related Intellectual Disability and Autism [RCV002266662]	uncertain significance	11	1436130	1436130	Human		name , trait
155901464	CV2294496	single nucleotide variant	NM_001256627.2(BRSK2):c.194G>A (p.Arg65Gln)	Inborn genetic diseases [RCV002901131]\|not provided [RCV004572825]	uncertain significance	11	1438313	1438313	Human	1	name
401795911	CV2742886	duplication	NM_001256627.2(BRSK2):c.818dup (p.Lys274fs)	not provided [RCV003325402]	likely pathogenic	11	1445294	1445295	Human		name
401829813	CV2747575	single nucleotide variant	NM_001256627.2(BRSK2):c.155G>A (p.Arg52His)	not provided [RCV003329041]	uncertain significance	11	1436103	1436103	Human		name
401887423	CV2771930	single nucleotide variant	NM_001256627.2(BRSK2):c.173C>T (p.Ser58Leu)	Inborn genetic diseases [RCV003352379]	uncertain significance	11	1436121	1436121	Human	1	name
401859853	CV2794416	single nucleotide variant	NM_001256627.2(BRSK2):c.1668G>A (p.Ser556=)	Neurodevelopmental disorder [RCV003387584]	likely pathogenic	11	1454608	1454608	Human	1	name
401909967	CV2806640	single nucleotide variant	NM_001256627.2(BRSK2):c.1068C>T (p.Asn356=)	not provided [RCV003424737]	likely benign	11	1445661	1445661	Human		name
401909971	CV2806642	single nucleotide variant	NM_001256627.2(BRSK2):c.1170C>T (p.Asp390=)	BRSK2-related disorder [RCV004540652]\|not provided [RCV003424739]	likely benign	11	1445851	1445851	Human		name , trait , alternate_id
401909973	CV2806643	single nucleotide variant	NM_001256627.2(BRSK2):c.1242C>T (p.Ser414=)	not provided [RCV003424740]	likely benign	11	1449791	1449791	Human		name
401909974	CV2806644	single nucleotide variant	NM_001256627.2(BRSK2):c.1248C>G (p.Ala416=)	BRSK2-related disorder [RCV004540653]\|not provided [RCV003424741]	likely benign	11	1449797	1449797	Human		name , trait , alternate_id
401909985	CV2806649	single nucleotide variant	NM_001256627.2(BRSK2):c.1302C>T (p.Pro434=)	BRSK2-related disorder [RCV004536786]\|not provided [RCV003424746]	benign\|likely benign	11	1450601	1450601	Human		name , trait , alternate_id
401909987	CV2806650	single nucleotide variant	NM_001256627.2(BRSK2):c.1395G>A (p.Pro465=)	not provided [RCV003424747]	likely benign	11	1450694	1450694	Human		name
401909989	CV2806651	single nucleotide variant	NM_001256627.2(BRSK2):c.1500G>A (p.Pro500=)	BRSK2-related disorder [RCV004540654]\|not provided [RCV003424748]	benign\|likely benign	11	1451375	1451375	Human		name , trait , alternate_id
401909991	CV2806652	single nucleotide variant	NM_001256627.2(BRSK2):c.1503G>A (p.Thr501=)	not provided [RCV003424749]	likely benign	11	1451378	1451378	Human		name
401909995	CV2806654	single nucleotide variant	NM_001256627.2(BRSK2):c.1656C>T (p.His552=)	BRSK2-related disorder [RCV004540655]\|not provided [RCV003424751]	benign\|likely benign	11	1454596	1454596	Human		name , trait , alternate_id
401909998	CV2806655	single nucleotide variant	NM_001256627.2(BRSK2):c.1674C>T (p.Pro558=)	not provided [RCV003424752]	likely benign	11	1456353	1456353	Human		name
401909999	CV2806656	single nucleotide variant	NM_001256627.2(BRSK2):c.1704G>A (p.Thr568=)	not provided [RCV003424753]	likely benign	11	1456383	1456383	Human		name
401910001	CV2806657	single nucleotide variant	NM_001256627.2(BRSK2):c.1731G>A (p.Thr577=)	not provided [RCV003424754]	likely benign	11	1456410	1456410	Human		name
401910004	CV2806658	single nucleotide variant	NM_001256627.2(BRSK2):c.1737G>A (p.Gly579=)	not provided [RCV003424755]	likely benign	11	1456416	1456416	Human		name
401910006	CV2806659	single nucleotide variant	NM_001256627.2(BRSK2):c.2046C>T (p.Asn682=)	not provided [RCV003424756]	likely benign	11	1460558	1460558	Human		name
404989005	CV2849718	single nucleotide variant	NM_001256627.2(BRSK2):c.218T>C (p.Ile73Thr)	not provided [RCV003490517]	uncertain significance	11	1438337	1438337	Human		name
404989033	CV2849722	single nucleotide variant	NM_001256627.2(BRSK2):c.202G>T (p.Ala68Ser)	not provided [RCV003490521]	uncertain significance	11	1438321	1438321	Human		name
405263764	CV3185228	single nucleotide variant	NM_001256627.2(BRSK2):c.1911C>T (p.His637=)	not provided [RCV003885792]	likely benign	11	1456659	1456659	Human		name
405260599	CV3185830	single nucleotide variant	NM_001256627.2(BRSK2):c.1104G>A (p.Pro368=)	not provided [RCV003884906]	likely benign	11	1445785	1445785	Human		name
405259552	CV3186319	single nucleotide variant	NM_001256627.2(BRSK2):c.2145C>T (p.Ala715=)	not provided [RCV003884078]	likely benign	11	1460657	1460657	Human		name
405269972	CV3187563	single nucleotide variant	NM_001256627.2(BRSK2):c.1485G>C (p.Arg495=)	not provided [RCV003887647]	uncertain significance	11	1450784	1450784	Human		name
405284840	CV3190893	single nucleotide variant	NM_001256627.2(BRSK2):c.2118C>T (p.Ala706=)	BRSK2-related disorder [RCV004537019]	likely benign	11	1460630	1460630	Human		name , trait , alternate_id
405292338	CV3192429	single nucleotide variant	NM_001256627.2(BRSK2):c.1143A>G (p.Lys381=)	BRSK2-related disorder [RCV004532066]	benign	11	1445824	1445824	Human		name , trait , alternate_id
405269981	CV3198063	single nucleotide variant	NM_001256627.2(BRSK2):c.1827C>T (p.Ser609=)	BRSK2-related disorder [RCV004534555]	likely benign	11	1456506	1456506	Human		name , trait , alternate_id
405284953	CV3202297	single nucleotide variant	NM_001256627.2(BRSK2):c.1758G>A (p.Pro586=)	BRSK2-related disorder [RCV004537031]	likely benign	11	1456437	1456437	Human		name , trait , alternate_id
405258433	CV3203793	single nucleotide variant	NM_001256627.2(BRSK2):c.1173C>T (p.Gly391=)	BRSK2-related disorder [RCV004534687]\|not provided [RCV003992813]	likely benign	11	1445854	1445854	Human		name , trait , alternate_id
405275312	CV3204697	single nucleotide variant	NM_001256627.2(BRSK2):c.1389G>A (p.Thr463=)	BRSK2-related disorder [RCV004544004]\|not provided [RCV004810636]	likely benign	11	1450688	1450688	Human		name , trait , alternate_id
405273164	CV3210387	single nucleotide variant	NM_001256627.2(BRSK2):c.1740A>G (p.Pro580=)	BRSK2-related disorder [RCV004539477]	likely benign	11	1456419	1456419	Human		name , trait , alternate_id
405266833	CV3213243	single nucleotide variant	NM_001256627.2(BRSK2):c.1011C>T (p.Leu337=)	BRSK2-related disorder [RCV004545626]	likely benign	11	1445604	1445604	Human		name , trait , alternate_id
405275619	CV3216011	single nucleotide variant	NM_001256627.2(BRSK2):c.1035G>C (p.Pro345=)	BRSK2-related disorder [RCV004544020]	likely benign	11	1445628	1445628	Human		name , trait , alternate_id
405282958	CV3218432	single nucleotide variant	NM_001256627.2(BRSK2):c.1431G>A (p.Ala477=)	BRSK2-related disorder [RCV004545522]	likely benign	11	1450730	1450730	Human		name , trait , alternate_id
405283569	CV3218601	single nucleotide variant	NM_001256627.2(BRSK2):c.1182G>A (p.Pro394=)	BRSK2-related disorder [RCV004545535]	likely benign	11	1445863	1445863	Human		name , trait , alternate_id
405271692	CV3219117	single nucleotide variant	NM_001256627.2(BRSK2):c.1368G>A (p.Pro456=)	BRSK2-related disorder [RCV004545663]\|Inborn genetic diseases [RCV005311105]	likely benign	11	1450667	1450667	Human	1	name , trait , alternate_id
405261773	CV3219896	single nucleotide variant	NM_001256627.2(BRSK2):c.1761C>G (p.Val587=)	BRSK2-related disorder [RCV004540760]	likely benign	11	1456440	1456440	Human		name , trait , alternate_id
405267045	CV3220235	single nucleotide variant	NM_001256627.2(BRSK2):c.1314C>T (p.Gly438=)	BRSK2-related disorder [RCV004540797]	likely benign	11	1450613	1450613	Human		name , trait , alternate_id
405694983	CV3226547	single nucleotide variant	NM_001256627.2(BRSK2):c.1161C>T (p.Ser387=)	not provided [RCV003992940]	likely benign	11	1445842	1445842	Human		name
407456344	CV3415865	single nucleotide variant	NM_001256627.2(BRSK2):c.1041G>A (p.Gln347=)	not provided [RCV004598742]	likely benign	11	1445634	1445634	Human		name
408369322	CV3509308	single nucleotide variant	NM_001256627.2(BRSK2):c.1320C>T (p.Pro440=)	BRSK2-related disorder [RCV004736830]\|not provided [RCV004810707]	likely benign	11	1450619	1450619	Human		name , trait , alternate_id
408394426	CV3518228	single nucleotide variant	NM_001256627.2(BRSK2):c.117C>A (p.Cys39Ter)	BRSK2-associated neurodevelopmental disorder [RCV004759551]	pathogenic	11	1436065	1436065	Human		name , trait
408387112	CV3524400	single nucleotide variant	NM_001256627.2(BRSK2):c.134T>C (p.Val45Ala)	not provided [RCV004768274]	uncertain significance	11	1436082	1436082	Human		name
596931087	CV3529930	single nucleotide variant	NM_001256627.2(BRSK2):c.167G>A (p.Ser56Asn)	not provided [RCV004780980]	uncertain significance	11	1436115	1436115	Human		name
598123820	CV3890446	single nucleotide variant	NM_001256627.2(BRSK2):c.194G>T (p.Arg65Leu)	not provided [RCV005250965]	uncertain significance	11	1438313	1438313	Human		name
598174642	CV3939069	single nucleotide variant	NM_001256627.2(BRSK2):c.151A>C (p.Asn51His)	Inborn genetic diseases [RCV005309740]	uncertain significance	11	1436099	1436099	Human	1	name
598174646	CV3939070	single nucleotide variant	NM_001256627.2(BRSK2):c.1005C>T (p.Phe335=)	Inborn genetic diseases [RCV005309741]	likely benign	11	1445598	1445598	Human	1	name
21073763	CV796540	single nucleotide variant	NM_001256627.2(BRSK2):c.209T>C (p.Leu70Pro)	not provided [RCV000994539]	uncertain significance	11	1438328	1438328	Human		name
150545475	CV1293820	single nucleotide variant	NM_001256627.2(BRSK2):c.832G>C (p.Glu278Gln)	not provided [RCV001763001]	uncertain significance	11	1445313	1445313	Human		name
150556731	CV1305659	single nucleotide variant	NM_001256627.2(BRSK2):c.682G>A (p.Val228Met)	not provided [RCV001774649]	uncertain significance	11	1443537	1443537	Human		name
151234712	CV1320433	single nucleotide variant	NM_001256627.2(BRSK2):c.572A>G (p.Lys191Arg)	not provided [RCV001800057]	uncertain significance	11	1443342	1443342	Human		name
152079685	CV1666826	single nucleotide variant	NM_001256627.2(BRSK2):c.767C>T (p.Ala256Val)	not provided [RCV002211171]	uncertain significance	11	1443622	1443622	Human		name
152999276	CV1679719	single nucleotide variant	NM_001256627.2(BRSK2):c.937C>T (p.Arg313Ter)	BRSK2-related disorder [RCV002251108]\|not provided [RCV004779272]	pathogenic\|likely pathogenic	11	1445418	1445418	Human		name , trait , alternate_id
153303850	CV1690511	single nucleotide variant	NM_001256627.2(BRSK2):c.918G>A (p.Met306Ile)	not provided [RCV002269555]	uncertain significance	11	1445399	1445399	Human		name
153304122	CV1690625	deletion	NM_001256627.2(BRSK2):c.2059del (p.Gln687fs)	not provided [RCV002269669]	uncertain significance	11	1460569	1460569	Human		name
156167150	CV1866934	single nucleotide variant	NM_001256627.2(BRSK2):c.533C>T (p.Ser178Phe)	not provided [RCV002508486]	uncertain significance	11	1443108	1443108	Human		name
156098207	CV2253250	single nucleotide variant	NM_001256627.2(BRSK2):c.938G>A (p.Arg313Gln)	Inborn genetic diseases [RCV002798953]	uncertain significance	11	1445419	1445419	Human	1	name
155997530	CV2288635	single nucleotide variant	NM_001256627.2(BRSK2):c.689G>A (p.Arg230Gln)	Inborn genetic diseases [RCV002882978]	uncertain significance	11	1443544	1443544	Human	1	name
156175768	CV2299684	single nucleotide variant	NM_001256627.2(BRSK2):c.822G>T (p.Lys274Asn)	Inborn genetic diseases [RCV002891667]	uncertain significance	11	1445303	1445303	Human	1	name
156356832	CV2318184	single nucleotide variant	NM_001256627.2(BRSK2):c.779C>A (p.Thr260Lys)	Inborn genetic diseases [RCV002940745]	uncertain significance	11	1443634	1443634	Human	1	name
155928180	CV2391665	single nucleotide variant	NM_001256627.2(BRSK2):c.869G>A (p.Arg290His)	Inborn genetic diseases [RCV002773924]	uncertain significance	11	1445350	1445350	Human	1	name
243050432	CV2403815	duplication	NM_001256627.2(BRSK2):c.1737dup (p.Pro580fs)	See cases [RCV003128486]\|not provided [RCV005227876]	likely pathogenic\|uncertain significance	11	1456409	1456410	Human		name
243049732	CV2417113	single nucleotide variant	NM_001256627.2(BRSK2):c.500T>C (p.Val167Ala)	not provided [RCV003151983]	uncertain significance	11	1442576	1442576	Human		name
329350999	CV2477829	single nucleotide variant	NM_001256627.2(BRSK2):c.527G>A (p.Cys176Tyr)	not provided [RCV003223942]	uncertain significance	11	1442603	1442603	Human		name
329848209	CV2667828	single nucleotide variant	NM_001256627.2(BRSK2):c.548G>A (p.Cys183Tyr)	not provided [RCV003229395]	uncertain significance	11	1443123	1443123	Human		name
401913640	CV2801644	single nucleotide variant	NM_001256627.2(BRSK2):c.472G>A (p.Ala158Thr)	BRSK2-related disorder [RCV004529280]	likely pathogenic	11	1442548	1442548	Human		name , trait , alternate_id
404989029	CV2849721	duplication	NM_001256627.2(BRSK2):c.1063dup (p.Arg355fs)	not provided [RCV003490520]	uncertain significance	11	1445649	1445650	Human		name
404989052	CV2849724	single nucleotide variant	NM_001256627.2(BRSK2):c.409A>G (p.Ile137Val)	not provided [RCV003490523]	uncertain significance	11	1440924	1440924	Human		name
405292674	CV3193073	single nucleotide variant	NM_001256627.2(BRSK2):c.802A>G (p.Ile268Val)	BRSK2-related disorder [RCV004540979]	uncertain significance	11	1444992	1444992	Human		name , trait , alternate_id
405708775	CV3298312	single nucleotide variant	NM_001256627.2(BRSK2):c.367C>T (p.Arg123Trp)	Inborn genetic diseases [RCV004426482]	uncertain significance	11	1440882	1440882	Human	1	name
405708788	CV3298314	single nucleotide variant	NM_001256627.2(BRSK2):c.769C>T (p.Arg257Cys)	Inborn genetic diseases [RCV004426484]	uncertain significance	11	1443624	1443624	Human	1	name
405708795	CV3298315	single nucleotide variant	NM_001256627.2(BRSK2):c.815G>C (p.Gly272Ala)	Inborn genetic diseases [RCV004426485]	uncertain significance	11	1445296	1445296	Human	1	name
405708800	CV3298316	single nucleotide variant	NM_001256627.2(BRSK2):c.898C>A (p.Pro300Thr)	Inborn genetic diseases [RCV004426486]	uncertain significance	11	1445379	1445379	Human	1	name
407426857	CV3411657	single nucleotide variant	NM_001256627.2(BRSK2):c.383C>T (p.Ala128Val)	not provided [RCV004590835]	uncertain significance	11	1440898	1440898	Human		name
407490770	CV3416839	single nucleotide variant	NM_001256627.2(BRSK2):c.416A>G (p.His139Arg)	Complex neurodevelopmental disorder [RCV004666667]	uncertain significance	11	1442492	1442492	Human	1	name
408382197	CV3504285	single nucleotide variant	NM_001256627.2(BRSK2):c.916A>G (p.Met306Val)	BRSK2-related disorder [RCV004729674]	uncertain significance	11	1445397	1445397	Human		name , trait , alternate_id
408387761	CV3520471	single nucleotide variant	NM_001256627.2(BRSK2):c.539A>G (p.His180Arg)	not provided [RCV004761303]	uncertain significance	11	1443114	1443114	Human		name
408388533	CV3520770	single nucleotide variant	NM_001256627.2(BRSK2):c.634G>A (p.Gly212Arg)	not provided [RCV004761603]	uncertain significance	11	1443489	1443489	Human		name
408391220	CV3523112	single nucleotide variant	NM_001256627.2(BRSK2):c.937C>G (p.Arg313Gly)	not provided [RCV004770484]	uncertain significance	11	1445418	1445418	Human		name
596945044	CV3543691	single nucleotide variant	NM_001256627.2(BRSK2):c.344C>G (p.Pro115Arg)	not provided [RCV004801813]	uncertain significance	11	1440859	1440859	Human		name
597637477	CV3637283	single nucleotide variant	NM_001256627.2(BRSK2):c.595G>A (p.Val199Met)	Inborn genetic diseases [RCV004970192]	uncertain significance	11	1443365	1443365	Human	1	name
597637410	CV3637284	single nucleotide variant	NM_001256627.2(BRSK2):c.956T>C (p.Leu319Pro)	Inborn genetic diseases [RCV004970193]	uncertain significance	11	1445437	1445437	Human	1	name
598123273	CV3890272	single nucleotide variant	NM_001256627.2(BRSK2):c.892A>G (p.Ile298Val)	not provided [RCV005250791]	uncertain significance	11	1445373	1445373	Human		name
13533978	CV508735	single nucleotide variant	NM_001256627.2(BRSK2):c.635G>A (p.Gly212Glu)	not specified [RCV000601804]	likely pathogenic\|uncertain significance	11	1443490	1443490	Human		name
26886268	CV838130	deletion	NM_001256627.2(BRSK2):c.2056del (p.Ala686fs)	not provided [RCV001054728]	uncertain significance	11	1460567	1460567	Human		name
28886301	CV859850	deletion	NM_001256627.2(BRSK2):c.2042del (p.Lys681fs)	not provided [RCV001091845]	uncertain significance	11	1460553	1460553	Human		name
40814677	CV969546	single nucleotide variant	NM_001256627.2(BRSK2):c.702C>A (p.His234Gln)	Intellectual disability [RCV001260905]	uncertain significance	11	1443557	1443557	Human	2	name
150461498	CV1270655	single nucleotide variant	NM_001256627.2(BRSK2):c.2188A>G (p.Thr730Ala)	BRSK2-related disorder [RCV004542085]\|not provided [RCV001693645]	benign	11	1460700	1460700	Human		name , trait , alternate_id
150549029	CV1294914	single nucleotide variant	NM_001256627.2(BRSK2):c.1394C>T (p.Pro465Leu)	not provided [RCV001764875]	uncertain significance	11	1450693	1450693	Human		name
150553601	CV1303611	single nucleotide variant	NM_001256627.2(BRSK2):c.2059C>T (p.Gln687Ter)	not provided [RCV001769301]	uncertain significance	11	1460571	1460571	Human		name
152079693	CV1666827	single nucleotide variant	NM_001256627.2(BRSK2):c.1733G>C (p.Gly578Ala)	BRSK2-related disorder [RCV004545255]\|Inborn genetic diseases [RCV003093839]\|not provided [RCV002211172]	benign\|likely benign	11	1456412	1456412	Human	1	name , trait , alternate_id
153304441	CV1687019	single nucleotide variant	NM_001256627.2(BRSK2):c.2183C>T (p.Pro728Leu)	BRSK2-related disorder [RCV004534006]\|not provided [RCV002262307]	benign\|likely benign	11	1460695	1460695	Human		name , trait , alternate_id
153302157	CV1688087	single nucleotide variant	NM_001256627.2(BRSK2):c.1066A>G (p.Asn356Asp)	not provided [RCV002265313]	uncertain significance	11	1445659	1445659	Human		name
155264938	CV1704487	single nucleotide variant	NM_001256627.2(BRSK2):c.1619A>C (p.Asp540Ala)	not provided [RCV002284703]	uncertain significance	11	1454559	1454559	Human		name
155268111	CV1705266	single nucleotide variant	NM_001256627.2(BRSK2):c.1636A>T (p.Ile546Phe)	not provided [RCV002285871]	uncertain significance	11	1454576	1454576	Human		name
155644134	CV1706923	single nucleotide variant	NM_001256627.2(BRSK2):c.1979C>T (p.Ser660Phe)	not provided [RCV002290877]	uncertain significance	11	1459231	1459231	Human		name
155797813	CV1860502	single nucleotide variant	NM_001256627.2(BRSK2):c.1159A>G (p.Ser387Gly)	not provided [RCV002467144]	uncertain significance	11	1445840	1445840	Human		name
156127998	CV2223868	single nucleotide variant	NM_001256627.2(BRSK2):c.1196G>A (p.Arg399Gln)	Inborn genetic diseases [RCV002708276]	likely benign	11	1445877	1445877	Human	1	name
156105620	CV2257215	single nucleotide variant	NM_001256627.2(BRSK2):c.1162G>A (p.Val388Met)	Inborn genetic diseases [RCV002799394]	uncertain significance	11	1445843	1445843	Human	1	name
156237213	CV2265105	single nucleotide variant	NM_001256627.2(BRSK2):c.1171G>A (p.Gly391Ser)	Inborn genetic diseases [RCV002830295]\|not provided [RCV004721134]	likely benign\|uncertain significance	11	1445852	1445852	Human	1	name
156265728	CV2275421	single nucleotide variant	NM_001256627.2(BRSK2):c.1447A>G (p.Lys483Glu)	Inborn genetic diseases [RCV002831998]	uncertain significance	11	1450746	1450746	Human	1	name
156076609	CV2291538	single nucleotide variant	NM_001256627.2(BRSK2):c.1376C>G (p.Thr459Arg)	Inborn genetic diseases [RCV002887192]	uncertain significance	11	1450675	1450675	Human	1	name
156216352	CV2386060	single nucleotide variant	NM_001256627.2(BRSK2):c.1784A>G (p.Tyr595Cys)	BRSK2-related disorder [RCV004738713]\|Inborn genetic diseases [RCV002744424]	uncertain significance	11	1456463	1456463	Human	1	name , trait , alternate_id
156054292	CV2388597	single nucleotide variant	NM_001256627.2(BRSK2):c.1967C>T (p.Thr656Met)	Inborn genetic diseases [RCV002759526]	likely benign	11	1459219	1459219	Human	1	name
156200595	CV2392415	single nucleotide variant	NM_001256627.2(BRSK2):c.1160G>C (p.Ser387Thr)	Inborn genetic diseases [RCV002789749]	uncertain significance	11	1445841	1445841	Human	1	name
243053733	CV2416386	single nucleotide variant	NM_001256627.2(BRSK2):c.1756C>T (p.Pro586Ser)	not provided [RCV003149447]	uncertain significance	11	1456435	1456435	Human		name
243050033	CV2417309	single nucleotide variant	NM_001256627.2(BRSK2):c.2022A>C (p.Lys674Asn)	not provided [RCV003152181]	uncertain significance	11	1460534	1460534	Human		name
329393962	CV2472236	single nucleotide variant	NM_001256627.2(BRSK2):c.1498C>G (p.Pro500Ala)	Inborn genetic diseases [RCV003218552]	uncertain significance	11	1451373	1451373	Human	1	name
401866486	CV2472768	single nucleotide variant	NM_001256627.2(BRSK2):c.1617A>C (p.Lys539Asn)	Neurodevelopmental delay [RCV003331465]	likely pathogenic	11	1454557	1454557	Human	1	name
329350942	CV2477772	single nucleotide variant	NM_001256627.2(BRSK2):c.1948A>G (p.Asn650Asp)	not provided [RCV003223884]	uncertain significance	11	1459200	1459200	Human		name
401927298	CV2797017	single nucleotide variant	NM_001256627.2(BRSK2):c.2090C>T (p.Ala697Val)	BRSK2-related disorder [RCV004528676]	uncertain significance	11	1460602	1460602	Human		name , trait , alternate_id
401934940	CV2800801	single nucleotide variant	NM_001256627.2(BRSK2):c.1690G>C (p.Val564Leu)	BRSK2-related disorder [RCV004539002]	uncertain significance	11	1456369	1456369	Human		name , trait , alternate_id
401903026	CV2804801	single nucleotide variant	NM_001256627.2(BRSK2):c.1684C>G (p.His562Asp)	BRSK2-related disorder [RCV004536641]	uncertain significance	11	1456363	1456363	Human		name , trait , alternate_id
401909969	CV2806641	single nucleotide variant	NM_001256627.2(BRSK2):c.1120G>A (p.Gly374Ser)	not provided [RCV003424738]	uncertain significance	11	1445801	1445801	Human		name
401909993	CV2806653	single nucleotide variant	NM_001256627.2(BRSK2):c.1505C>T (p.Pro502Leu)	Inborn genetic diseases [RCV004364493]\|not provided [RCV003424750]	likely benign	11	1451380	1451380	Human	1	name
401910008	CV2806660	single nucleotide variant	NM_001256627.2(BRSK2):c.2156C>A (p.Thr719Lys)	BRSK2-related disorder [RCV004540656]\|not provided [RCV003424757]	benign\|likely benign	11	1460668	1460668	Human		name , trait , alternate_id
401913031	CV2830158	single nucleotide variant	NM_001256627.2(BRSK2):c.1585G>A (p.Glu529Lys)	not provided [RCV003441373]	uncertain significance	11	1454525	1454525	Human		name
404989011	CV2849719	single nucleotide variant	NM_001256627.2(BRSK2):c.1472G>A (p.Arg491His)	Inborn genetic diseases [RCV004364870]\|not provided [RCV003490518]	likely benign\|uncertain significance	11	1450771	1450771	Human	1	name
404989022	CV2849720	single nucleotide variant	NM_001256627.2(BRSK2):c.1563G>A (p.Trp521Ter)	not provided [RCV003490519]	uncertain significance	11	1454503	1454503	Human		name
404989043	CV2849723	single nucleotide variant	NM_001256627.2(BRSK2):c.2011G>T (p.Asp671Tyr)	not provided [RCV003490522]	uncertain significance	11	1460523	1460523	Human		name
405269198	CV3187242	single nucleotide variant	NM_001256627.2(BRSK2):c.1407C>G (p.Ser469Arg)	not provided [RCV003887326]	uncertain significance	11	1450706	1450706	Human		name
405276569	CV3198532	single nucleotide variant	NM_001256627.2(BRSK2):c.2186C>A (p.Pro729His)	BRSK2-related disorder [RCV004536946]	likely benign	11	1460698	1460698	Human		name , trait , alternate_id
405268907	CV3199090	single nucleotide variant	NM_001256627.2(BRSK2):c.1969G>A (p.Gly657Arg)	BRSK2-related disorder [RCV004537064]	likely benign	11	1459221	1459221	Human		name , trait , alternate_id
405708728	CV3298305	single nucleotide variant	NM_001256627.2(BRSK2):c.1232G>A (p.Arg411Gln)	Inborn genetic diseases [RCV004426475]	uncertain significance	11	1449781	1449781	Human	1	name
405708734	CV3298306	single nucleotide variant	NM_001256627.2(BRSK2):c.1301C>T (p.Pro434Leu)	Inborn genetic diseases [RCV004426476]	uncertain significance	11	1450600	1450600	Human	1	name
405708740	CV3298307	single nucleotide variant	NM_001256627.2(BRSK2):c.1514T>C (p.Met505Thr)	Inborn genetic diseases [RCV004426477]	uncertain significance	11	1451389	1451389	Human	1	name
405708745	CV3298308	single nucleotide variant	NM_001256627.2(BRSK2):c.1535C>A (p.Ser512Ter)	Inborn genetic diseases [RCV004426478]	pathogenic	11	1451410	1451410	Human	1	name
405708759	CV3298310	single nucleotide variant	NM_001256627.2(BRSK2):c.1844T>C (p.Leu615Pro)	Inborn genetic diseases [RCV004426480]	uncertain significance	11	1456523	1456523	Human	1	name
405871843	CV3398100	single nucleotide variant	NM_001256627.2(BRSK2):c.2111C>T (p.Ser704Phe)	not provided [RCV004575101]	uncertain significance	11	1460623	1460623	Human		name
407488400	CV3421540	single nucleotide variant	NM_001256627.2(BRSK2):c.1219G>A (p.Gly407Ser)	Inborn genetic diseases [RCV004603967]	likely benign	11	1445900	1445900	Human	1	name
407488403	CV3421541	single nucleotide variant	NM_001256627.2(BRSK2):c.1793G>A (p.Gly598Asp)	Inborn genetic diseases [RCV004603968]	uncertain significance	11	1456472	1456472	Human	1	name
407488414	CV3421543	single nucleotide variant	NM_001256627.2(BRSK2):c.1217A>C (p.His406Pro)	Inborn genetic diseases [RCV004603970]	uncertain significance	11	1445898	1445898	Human	1	name
407488416	CV3421544	single nucleotide variant	NM_001256627.2(BRSK2):c.1411G>A (p.Gly471Arg)	Inborn genetic diseases [RCV004603971]	uncertain significance	11	1450710	1450710	Human	1	name
408391284	CV3521279	single nucleotide variant	NM_001256627.2(BRSK2):c.1331C>G (p.Pro444Arg)	not provided [RCV004763101]	uncertain significance	11	1450630	1450630	Human		name
408391740	CV3523365	single nucleotide variant	NM_001256627.2(BRSK2):c.1961T>C (p.Met654Thr)	not provided [RCV004770738]	uncertain significance	11	1459213	1459213	Human		name
596931414	CV3531750	duplication	NM_001256627.2(BRSK2):c.2010dup (p.Asp671Ter)	not provided [RCV004781312]	uncertain significance	11	1460519	1460520	Human		name
597637812	CV3637280	single nucleotide variant	NM_001256627.2(BRSK2):c.1193G>A (p.Arg398Gln)	Inborn genetic diseases [RCV004970189]	likely benign	11	1445874	1445874	Human	1	name
597637687	CV3637281	single nucleotide variant	NM_001256627.2(BRSK2):c.1430C>T (p.Ala477Val)	Inborn genetic diseases [RCV004970190]	uncertain significance	11	1450729	1450729	Human	1	name
597637575	CV3637282	single nucleotide variant	NM_001256627.2(BRSK2):c.1352C>T (p.Thr451Met)	Inborn genetic diseases [RCV004970191]	likely benign	11	1450651	1450651	Human	1	name
598159327	CV3897067	single nucleotide variant	NM_001256627.2(BRSK2):c.1543G>C (p.Glu515Gln)	not provided [RCV005368041]	uncertain significance	11	1451418	1451418	Human		name
598174630	CV3939066	single nucleotide variant	NM_001256627.2(BRSK2):c.1481G>A (p.Arg494His)	Inborn genetic diseases [RCV005309738]	uncertain significance	11	1450780	1450780	Human	1	name
598174636	CV3939067	single nucleotide variant	NM_001256627.2(BRSK2):c.1499C>T (p.Pro500Leu)	Inborn genetic diseases [RCV005309739]	likely benign	11	1451374	1451374	Human	1	name
598210941	CV3939068	single nucleotide variant	NM_001256627.2(BRSK2):c.1363A>G (p.Ser455Gly)	Inborn genetic diseases [RCV005315937]	uncertain significance	11	1450662	1450662	Human	1	name
598210946	CV3939071	single nucleotide variant	NM_001256627.2(BRSK2):c.1924G>T (p.Ala642Ser)	Inborn genetic diseases [RCV005315938]	uncertain significance	11	1456672	1456672	Human	1	name
598210952	CV3939072	single nucleotide variant	NM_001256627.2(BRSK2):c.1223A>G (p.Gln408Arg)	Inborn genetic diseases [RCV005315939]	uncertain significance	11	1445904	1445904	Human	1	name
598174652	CV3939073	single nucleotide variant	NM_001256627.2(BRSK2):c.1703C>T (p.Thr568Met)	Inborn genetic diseases [RCV005309742]	uncertain significance	11	1456382	1456382	Human	1	name
598210959	CV3939074	single nucleotide variant	NM_001256627.2(BRSK2):c.1567G>C (p.Gly523Arg)	Inborn genetic diseases [RCV005315940]	uncertain significance	11	1454507	1454507	Human	1	name
13538629	CV508734	single nucleotide variant	NM_001256627.2(BRSK2):c.1861C>T (p.Arg621Cys)	not specified [RCV000612110]	uncertain significance	11	1456609	1456609	Human		name
40887254	CV973787	single nucleotide variant	NM_001256627.2(BRSK2):c.1697C>T (p.Ser566Phe)	Inborn genetic diseases [RCV001266743]	uncertain significance	11	1456376	1456376	Human	1	name
150339471	CV1174836	microsatellite	NM_001256627.2(BRSK2):c.733_734del (p.Leu246fs)	not provided [RCV001543526]	likely pathogenic	11	1443586	1443587	Human		name
155714730	CV1780336	microsatellite	NM_001256627.2(BRSK2):c.458ACA[1] (p.Asn154del)	not provided [RCV002305940]	uncertain significance	11	1442533	1442535	Human		name
155803741	CV1858307	deletion	NM_001256627.2(BRSK2):c.184_186del (p.Lys62del)	not provided [RCV002462616]	uncertain significance	11	1436131	1436133	Human		name
405708782	CV3298313	microsatellite	NM_001256627.2(BRSK2):c.696_697del (p.Phe233fs)	Inborn genetic diseases [RCV004426483]	pathogenic	11	1443549	1443550	Human		name
13521245	CV495704	duplication	NM_001256627.2(BRSK2):c.902_906dup (p.Leu303fs)	not provided [RCV000599297]	pathogenic\|uncertain significance	11	1445381	1445382	Human		name
150545934	CV1297047	microsatellite	NM_001256627.2(BRSK2):c.1127GGC[1] (p.Arg377del)	not provided [RCV001763338]	uncertain significance	11	1445806	1445808	Human		name
156052381	CV2192484	microsatellite	NM_001256627.2(BRSK2):c.1574TCA[1] (p.Ile526del)	not provided [RCV003036955]	uncertain significance	11	1454514	1454516	Human		name
156005992	CV2281745	microsatellite	NM_001256627.2(BRSK2):c.1301_1307dup (p.Arg437fs)	Inborn genetic diseases [RCV002865777]	pathogenic	11	1450589	1450590	Human		name
401902303	CV2804326	duplication	NM_001256627.2(BRSK2):c.2193_2199dup (p.Glu734fs)	BRSK2-related disorder [RCV004531749]	uncertain significance	11	1460700	1460701	Human		name , trait , alternate_id
405284191	CV3213578	deletion	NM_001256627.2(BRSK2):c.2188_2194del (p.Thr730fs)	BRSK2-related disorder [RCV004539452]\|not provided [RCV005402109]	likely benign\|uncertain significance	11	1460694	1460700	Human		name , trait , alternate_id
408390732	CV3527704	deletion	NM_001256627.2(BRSK2):c.2140_2159del (p.Asp714fs)	not provided [RCV004774972]	uncertain significance	11	1460649	1460668	Human		name
13217211	CV424989	microsatellite	NM_001256627.2(BRSK2):c.1532_1533del (p.Glu511fs)	not specified [RCV000497073]	likely pathogenic\|uncertain significance	11	1451405	1451406	Human		name
39456424	CV965526	duplication	NM_001256627.2(BRSK2):c.2130_2135dup (p.709PG[3])	not provided [RCV001255017]	uncertain significance	11	1460639	1460640	Human		name
598174567	CV3890902	deletion	NM_001256627.2(BRSK2):c.1044_1052del (p.Glu348_Glu350del)	not provided [RCV005251755]	uncertain significance	11	1445633	1445641	Human		name
156025882	CV2043485	duplication	NM_001256627.2(BRSK2):c.2119_2124dup (p.Gly708_Pro709insAlaGly)	BRSK2-related disorder [RCV004536404]\|not provided [RCV002780893]	uncertain significance	11	1460629	1460630	Human		name , trait , alternate_id
405266334	CV3186617	insertion	NM_001256627.2(BRSK2):c.1992_1993insTTCAGC (p.Ser664_Pro665insPheSer)	not provided [RCV003886698]	uncertain significance	11	1460500	1460501	Human		name
405000162	CV2852522	deletion	NC_000011.9:g.(1467138_1471005)_(1477918_1480421)del	BRSK2-related disorder [RCV004536828]	likely pathogenic				Human		trait , alternate_id

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