9254[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1441681.	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 GRCh37: Chr3:45921375-50787353 GRCh38: Chr3:45879883-50749922	ALS2CL, AMIGO3, AMT, APEH, ARIH2, ARIH2OS, ATRIP, ATRIP-TREX1, BSN, BSN-DT, C3orf18, C3orf62, C3orf84, CACNA2D2, CAMKV, CAMP, CCDC12, CCDC51, CCDC71, CCR1, CCR2, CCR3, CCR5, CCR5AS, CCR9, CCRL2, CDC25A, CDHR4, CELSR3, CISH, COL7A1, CRIPTO, CSPG5, CXCR6, CYB561D2, DAG1, DALRD3, DHX30, DOCK3, ELP6, FAM240A, FBXW12, FYCO1, GMPPB, GNAI2, GNAT1, GPX1, HEMK1, HYAL1, HYAL2, HYAL3, IFRD2, IHO1, IMPDH2, INKA1, IP6K1, IP6K2, KIF9, KIF9-AS1, KLHDC8B, KLHL18, LAMB2, LINC02009, LINC02019, LINC02585, LOC101928965, LOC110121200, LOC111591507, LOC112935943, LOC112935944, LOC112935945, LOC112935946, LOC115995510, LOC119086083, LOC121009664, LOC121009665, LOC121009666, LOC121009667, LOC121009668, LOC121009669, LOC121009670, LOC121009671, LOC121725144, LOC122889078, LOC122889079, LOC122889080, LOC122889081, LOC122889082, LOC122889083, LOC122889084, LOC122889085, LOC122889086, LOC122889087, LOC122889088, LOC126806671, LOC126806672, LOC126806673, LOC126806674, LOC126806675, LOC126806676, LOC127898564, LOC129389065, LOC129389066, LOC129389067, LOC129389068, LOC129389069, LOC129389070, LOC129389071, LOC129389072, LOC129389073, LOC129389074, LOC129389075, LOC129389076, LOC129389077, LOC129936634, LOC129936635, LOC129936636, LOC129936637, LOC129936638, LOC129936639, LOC129936640, LOC129936641, LOC129936642, LOC129936643, LOC129936644, LOC129936645, LOC129936646, LOC129936647, LOC129936648, LOC129936649, LOC129936650, LOC129936651, LOC129936652, LOC129936653, LOC129936654, LOC129936655, LOC129936656, LOC129936657, LOC129936658, LOC129936659, LOC129936660, LOC129936661, LOC129936662, LOC129936663, LOC129936664, LOC129936665, LOC129936666, LOC129936667, LOC129936668, LOC129936669, LOC129936670, LOC129936671, LOC129936672, LOC129936673, LOC129936674, LOC129936675, LOC129936676, LOC129936677, LOC129936678, LOC129936679, LOC129936680, LOC129936681, LOC129936682, LOC129936683, LOC129936684, LOC129936685, LOC129936686, LOC129936687, LOC129936688, LOC129936689, LOC129936690, LOC129936691, LOC129936692, LOC129936693, LOC129936694, LOC129936695, LOC129936696, LOC129936697, LOC129936698, LOC129936699, LOC129936700, LOC129936701, LOC129936702, LOC129936703, LOC129936704, LOC129936705, LOC129936706, LOC129936707, LOC129936708, LOC129936709, LOC129936710, LOC129936711, LOC129936712, LOC129936713, LOC129936714, LOC129936715, LOC129936716, LOC129936717, LOC129936718, LOC129936719, LOC129936720, LOC129936721, LOC129936722, LOC129936723, LOC129936724, LOC129936725, LOC129936726, LOC129936727, LOC129936728, LOC129936729, LOC129936730, LOC129936731, LOC129936732, LOC129936733, LOC129936734, LOC129936735, LOC129936736, LOC129936737, LOC129936738, LOC129936739, LOC129936740, LOC129936741, LOC129936742, LOC129936743, LOC129936744, LOC129936745, LOC129936746, LOC129936747, LOC129936748, LOC129936749, LOC129936750, LOC129936751, LOC129936752, LOC129936753, LOC129936754, LOC129936755, LOC129936756, LOC129936757, LOC129936758, LOC129936759, LOC129936760, LOC129936761, LOC129936762, LOC129936763, LOC129936764, LOC129936765, LOC129936766, LOC129936767, LOC129936768, LOC129936769, LOC129936770, LOC129936771, LOC129936772, LOC129936773, LOC129936774, LOC129936775, LOC129936776, LOC129936777, LOC129936778, LOC129936779, LOC129936780, LOC129936781, LOC129936782, LOC129936783, LOC129936784, LOC129936785, LOC129936786, LOC129936787, LOC129936788, LOC129936789, LOC129936790, LOC129936791, LOC129936792, LOC129936793, LOC129936794, LOC129936795, LOC129936796, LOC129936797, LOC129936798, LOC129936799, LOC129936800, LOC129936801, LOC129936802, LOC129936803, LOC129936804, LOC129936805, LOC129936806, LOC129936807, LOC129936808, LOC129936809, LOC129936810, LOC129936811, LOC132088966, LOC132088967, LOC132088968, LOC132088969, LOC132088970, LRRC2, LRRC2-AS1, LSMEM2, LTF, LZTFL1, MAP4, MAPKAPK3, MIR1226, MIR191, MIR2115, MIR425, MIR4271, MIR4443, MIR4787, MIR4793, MIR5193, MIR5787, MIR6823, MIR6824, MIR6872, MIR6890, MIR711, MON1A, MST1, MST1R, MYL3, NAA80, NBEAL2, NCKIPSD, NDUFAF3, NICN1, NME6, NPRL2, P4HTM, PFKFB4, PLXNB1, PRKAR2A, PRKAR2A-AS1, PRSS50, PTH1R, PTPN23, PTPN23-DT, QARS1, QRICH1, RASSF1, RASSF1-AS1, RBM5, RBM5-AS1, RBM6, RHOA, RNF123, RTP3, SCAP, SEMA3B, SEMA3B-AS1, SEMA3F, SEMA3F-AS1, SETD2, SHISA5, SLC25A20, SLC26A6, SLC38A3, SMARCC1, SNORA94, SNORD13J, SNORD146, SPINK8, TCTA, TMA7, TMEM115, TMEM89, TMIE, TRAIP, TREX1, TUSC2, UBA7, UCN2, UQCRC1, USP19, USP4, WDR6, XCR1, ZMYND10, ZNF589		See cases	Pathogenic (Sep 23, 2013)	no assertion criteria provided
Select item 577712.	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 GRCh37: Chr3:49498433-55348528 GRCh38: Chr3:49461000-55314500	ABHD14A, ABHD14A-ACY1, ABHD14B, ACTR8, ACY1, ALAS1, AMIGO3, APEH, BAP1, BSN, BSN-DT, C3orf18, CACNA1D, CACNA2D2, CACNA2D3, CACNA2D3-AS1, CAMKV, CDHR4, CHDH, CISH, CYB561D2, DAG1, DCAF1, DCP1A, DNAH1, DOCK3, DUSP7, ESRG, GLT8D1, GLYCTK, GLYCTK-AS1, GMPPB, GNAI2, GNAT1, GNL3, GPR62, GRM2, HEMK1, HYAL1, HYAL2, HYAL3, IFRD2, IL17RB, INKA1, IP6K1, IQCF1, IQCF2, IQCF3, IQCF5, IQCF5-AS1, IQCF6, ITIH1, ITIH3, ITIH4, ITIH4-AS1, LINC00696, LINC02017, LINC02019, LINC02030, LOC101928965, LOC110121103, LOC110121200, LOC110121270, LOC112935947, LOC112935948, LOC112935949, LOC112935950, LOC114004379, LOC114004380, LOC115995511, LOC121009668, LOC121009669, LOC121009670, LOC121009671, LOC121009672, LOC121725145, LOC121725146, LOC122889088, LOC122889089, LOC122889090, LOC122965306, LOC122965307, LOC122965308, LOC122965309, LOC122965310, LOC122965311, LOC126806677, LOC126806678, LOC126806679, LOC126806680, LOC126806681, LOC126806682, LOC126806683, LOC126806684, LOC126806685, LOC126806686, LOC126806687, LOC127898564, LOC129389076, LOC129389077, LOC129389078, LOC129936758, LOC129936759, LOC129936760, LOC129936761, LOC129936762, LOC129936763, LOC129936764, LOC129936765, LOC129936766, LOC129936767, LOC129936768, LOC129936769, LOC129936770, LOC129936771, LOC129936772, LOC129936773, LOC129936774, LOC129936775, LOC129936776, LOC129936777, LOC129936778, LOC129936779, LOC129936780, LOC129936781, LOC129936782, LOC129936783, LOC129936784, LOC129936785, LOC129936786, LOC129936787, LOC129936788, LOC129936789, LOC129936790, LOC129936791, LOC129936792, LOC129936793, LOC129936794, LOC129936795, LOC129936796, LOC129936797, LOC129936798, LOC129936799, LOC129936800, LOC129936801, LOC129936802, LOC129936803, LOC129936804, LOC129936805, LOC129936806, LOC129936807, LOC129936808, LOC129936809, LOC129936810, LOC129936811, LOC129936812, LOC129936813, LOC129936814, LOC129936815, LOC129936816, LOC129936817, LOC129936818, LOC129936819, LOC129936820, LOC129936821, LOC129936822, LOC129936823, LOC129936824, LOC129936825, LOC129936826, LOC129936827, LOC129936828, LOC129936829, LOC129936830, LOC129936831, LOC129936832, LOC129936833, LOC129936834, LOC129936835, LOC129936836, LOC129936837, LOC129936838, LOC129936839, LOC129936840, LOC129936841, LOC129936842, LOC129936843, LOC129936844, LOC129936845, LOC129936846, LOC129936847, LOC129936848, LOC129936849, LOC129936850, LOC129936851, LOC129936852, LOC129936853, LOC129936854, LOC129936855, LOC129936856, LOC129936857, LOC129936858, LOC129936859, LOC129936860, LOC129936861, LOC129936862, LOC129936863, LOC129936864, LOC129936865, LOC129936866, LOC129936867, LOC129936868, LOC129936869, LOC129936870, LOC129936871, LOC129936872, LOC129936873, LOC129936874, LOC129936875, LOC129936876, LOC129936877, LOC129936878, LOC129936879, LOC129936880, LOC129936881, LOC129936882, LOC129936883, LOC129936884, LOC129936885, LOC129936886, LOC129936887, LOC129936888, LOC129936889, LOC129936890, LOC129936891, LOC129936892, LOC129936893, LOC129936894, LOC129936895, LOC129936896, LOC129936897, LOC129936898, LOC129936899, LOC129936900, LOC129936901, LOC129936902, LOC129936903, LOC129936904, LOC129936905, LOC129936906, LOC129936907, LOC129936908, LOC129936909, LOC129936910, LOC129936911, LOC132088968, LOC132088969, LOC132088970, LOC132088971, LOC132088972, LOC132088973, LOC132088974, LRTM1, LSMEM2, MANF, MAPKAPK3, MIR135A1, MIR4787, MIR5193, MIR5787, MIR6872, MIR8064, MIRLET7G, MON1A, MST1, MST1R, MUSTN1, NAA80, NEK4, NISCH, NPRL2, NT5DC2, PARP3, PBRM1, PCBP4, PHF7, POC1A, PPM1M, PRKCD, RAD54L2, RASSF1, RASSF1-AS1, RBM15B, RBM5, RBM5-AS1, RBM6, RFT1, RNF123, RPL29, RRP9, SELENOK, SEMA3B, SEMA3B-AS1, SEMA3F, SEMA3F-AS1, SEMA3G, SFMBT1, SLC38A3, SNORD136, SNORD19, SNORD19B, SNORD19C, SNORD38C, SNORD69, SPCS1, STAB1, STIMATE, STIMATE-MUSTN1, TEX264, TKT, TLR9, TMEM115, TNNC1, TRAIP, TUSC2, TWF2, TWF2-DT, UBA7, UQCC5, WDR82, ZMYND10		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 11600663.	NM_006030.4(CACNA2D2):c.3431G>A (p.Ter1144=) GRCh37: Chr3:50402098 GRCh38: Chr3:50364667	LOC127898564, CACNA2D2, CYB561D2		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 10592354.	NM_006030.4(CACNA2D2):c.3421_3430del (p.Arg1141fs) GRCh37: Chr3:50402099-50402108 GRCh38: Chr3:50364668-50364677	CACNA2D2, CYB561D2, LOC127898564	R1074fs, R1141fs, R1143fs, R1148fs	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Oct 27, 2020)	criteria provided, single submitter
Select item 8582515.	NM_006030.4(CACNA2D2):c.3409_3425del (p.Val1137fs) GRCh37: Chr3:50402104-50402120 GRCh38: Chr3:50364673-50364689	CYB561D2, LOC127898564, CACNA2D2	V1144fs, V1070fs, V1137fs, V1139fs	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Dec 27, 2019)	criteria provided, single submitter
Select item 21339256.	NM_006030.4(CACNA2D2):c.3424C>G (p.Arg1142Gly) GRCh37: Chr3:50402105 GRCh38: Chr3:50364674	CACNA2D2, CYB561D2, LOC127898564	R1075G, R1142G, R1149G, R1143G, R1144G	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 10601697.	NM_006030.4(CACNA2D2):c.3424C>T (p.Arg1142Cys) GRCh37: Chr3:50402105 GRCh38: Chr3:50364674	CACNA2D2, CYB561D2, LOC127898564	R1075C, R1142C, R1144C, R1149C	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 7021408.	NM_006030.4(CACNA2D2):c.3423C>A (p.Arg1141=) GRCh37: Chr3:50402106 GRCh38: Chr3:50364675	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 10857639.	NM_006030.4(CACNA2D2):c.3417C>T (p.Ala1139=) GRCh37: Chr3:50402112 GRCh38: Chr3:50364681	CYB561D2, LOC127898564, CACNA2D2		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Oct 2, 2020)	criteria provided, single submitter
Select item 196679410.	NM_006030.4(CACNA2D2):c.3414C>T (p.His1138=) GRCh37: Chr3:50402115 GRCh38: Chr3:50364684	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 215225311.	NM_006030.4(CACNA2D2):c.3408C>T (p.Leu1136=) GRCh37: Chr3:50402121 GRCh38: Chr3:50364690	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 213564312.	NM_006030.4(CACNA2D2):c.3402A>G (p.Gln1134=) GRCh37: Chr3:50402127 GRCh38: Chr3:50364696	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 41101313.	NM_006030.4(CACNA2D2):c.3402A>C (p.Gln1134His) GRCh37: Chr3:50402127 GRCh38: Chr3:50364696	CACNA2D2, CYB561D2, LOC127898564	Q1134H, Q1141H, Q1136H, Q1067H	Inborn genetic diseases, Early infantile epileptic encephalopathy with suppression bursts, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 24027914.	NM_006030.4(CACNA2D2):c.3398C>T (p.Pro1133Leu) GRCh37: Chr3:50402131 GRCh38: Chr3:50364700	CYB561D2, LOC127898564, CACNA2D2	P1133L, P1140L, P1066L, P1135L	not provided, Early infantile epileptic encephalopathy with suppression bursts, Cerebellar atrophy with seizures and variable developmental delay	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 194597915.	NM_006030.4(CACNA2D2):c.3397C>T (p.Pro1133Ser) GRCh37: Chr3:50402132 GRCh38: Chr3:50364701	CACNA2D2, CYB561D2, LOC127898564	P1133S, P1134S, P1140S, P1066S, P1135S	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 24027816.	NM_006030.4(CACNA2D2):c.3393G>A (p.Pro1131=) GRCh37: Chr3:50402136 GRCh38: Chr3:50364705	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts, not specified, not provided	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141559117.	NM_006030.4(CACNA2D2):c.3392C>T (p.Pro1131Leu) GRCh37: Chr3:50402137 GRCh38: Chr3:50364706	CACNA2D2, CYB561D2, LOC127898564	P1131L, P1138L, P1133L, P1064L	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 146213118.	NM_006030.4(CACNA2D2):c.3385_3389dup (p.Gln1132fs) GRCh37: Chr3:50402139-50402140 GRCh38: Chr3:50364708-50364709	CACNA2D2, CYB561D2, LOC127898564	Q1134fs, Q1139fs, Q1065fs, Q1132fs	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 57765719.	NM_006030.4(CACNA2D2):c.3388C>A (p.Arg1130=) GRCh37: Chr3:50402141 GRCh38: Chr3:50364710	LOC127898564, CACNA2D2, CYB561D2		Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 64218620.	NM_006030.4(CACNA2D2):c.3386C>T (p.Pro1129Leu) GRCh37: Chr3:50402143 GRCh38: Chr3:50364712	CACNA2D2, CYB561D2, LOC127898564	P1062L, P1131L, P1136L, P1129L	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 70236221.	NM_006030.4(CACNA2D2):c.3384G>A (p.Pro1128=) GRCh37: Chr3:50402145 GRCh38: Chr3:50364714	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 113387922.	NM_006030.4(CACNA2D2):c.3378C>T (p.Gly1126=) GRCh37: Chr3:50402151 GRCh38: Chr3:50364720	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 148017323.	NM_006030.4(CACNA2D2):c.3373C>T (p.Leu1125=) GRCh37: Chr3:50402156 GRCh38: Chr3:50364725	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Apr 29, 2021)	criteria provided, single submitter
Select item 157689024.	NM_006030.4(CACNA2D2):c.3372C>T (p.Leu1124=) GRCh37: Chr3:50402157 GRCh38: Chr3:50364726	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Apr 10, 2021)	criteria provided, single submitter
Select item 46132025.	NM_006030.4(CACNA2D2):c.3370C>T (p.Leu1124Phe) GRCh37: Chr3:50402159 GRCh38: Chr3:50364728	CACNA2D2, CYB561D2, LOC127898564	L1124F, L1131F, L1057F, L1126F	not provided, Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158304726.	NM_006030.4(CACNA2D2):c.3369C>G (p.Leu1123=) GRCh37: Chr3:50402160 GRCh38: Chr3:50364729	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 41654427.	NM_006030.4(CACNA2D2):c.3369C>T (p.Leu1123=) GRCh37: Chr3:50402160 GRCh38: Chr3:50364729	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts, not specified	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 223575928.	NM_006030.4(CACNA2D2):c.3364C>G (p.Leu1122Val) GRCh37: Chr3:50402165 GRCh38: Chr3:50364734	CACNA2D2, CYB561D2, LOC127898564	L1123V, L1055V, L1129V, L1122V, L1124V	Inborn genetic diseases	Uncertain significance (Jul 9, 2021)	criteria provided, single submitter
Select item 170653329.	NM_006030.4(CACNA2D2):c.3362T>G (p.Leu1121Arg) GRCh37: Chr3:50402167 GRCh38: Chr3:50364736	CACNA2D2, CYB561D2, LOC127898564	L1054R, L1121R, L1122R, L1123R, L1128R	Cerebellar atrophy with seizures and variable developmental delay	Likely pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 204002330.	NM_006030.4(CACNA2D2):c.3354C>T (p.Ser1118=) GRCh37: Chr3:50402175 GRCh38: Chr3:50364744	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 41653731.	NM_006030.4(CACNA2D2):c.3349G>A (p.Val1117Ile) GRCh37: Chr3:50402180 GRCh38: Chr3:50364749	CYB561D2, LOC127898564, CACNA2D2	V1124I, V1117I, V1119I, V1050I	not provided, not specified, Early infantile epileptic encephalopathy with suppression bursts	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108301932.	NM_006030.4(CACNA2D2):c.3345C>A (p.Val1115=) GRCh37: Chr3:50402184 GRCh38: Chr3:50364753	LOC127898564, CYB561D2, CACNA2D2		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 157470033.	NM_006030.4(CACNA2D2):c.3336G>C (p.Ser1112=) GRCh37: Chr3:50402193 GRCh38: Chr3:50364762	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 41654534.	NM_006030.4(CACNA2D2):c.3333G>A (p.Pro1111=) GRCh37: Chr3:50402196 GRCh38: Chr3:50364765	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Aug 30, 2020)	criteria provided, single submitter
Select item 97022035.	NM_006030.4(CACNA2D2):c.3332C>T (p.Pro1111Leu) GRCh37: Chr3:50402197 GRCh38: Chr3:50364766	CACNA2D2, CYB561D2, LOC127898564	P1118L, P1113L, P1044L, P1111L	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 104043436.	NM_006030.4(CACNA2D2):c.3326T>G (p.Phe1109Cys) GRCh37: Chr3:50402203 GRCh38: Chr3:50364772	CACNA2D2, CYB561D2, LOC127898564	F1109C, F1111C, F1116C, F1042C	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 69842537.	NM_006030.4(CACNA2D2):c.3321C>T (p.Ala1107=) GRCh37: Chr3:50402208 GRCh38: Chr3:50364777	LOC127898564, CACNA2D2, CYB561D2		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 161080838.	NM_006030.4(CACNA2D2):c.3318G>A (p.Gly1106=) GRCh37: Chr3:50402211 GRCh38: Chr3:50364780	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 41654839.	NM_006030.4(CACNA2D2):c.3315C>T (p.Arg1105=) GRCh37: Chr3:50402214 GRCh38: Chr3:50364783	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 86482340.	NM_006030.4(CACNA2D2):c.3314G>A (p.Arg1105His) GRCh37: Chr3:50402215 GRCh38: Chr3:50364784	CYB561D2, LOC127898564, CACNA2D2	R1105H, R1112H, R1107H, R1038H	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (May 22, 2019)	criteria provided, single submitter
Select item 103781741.	NM_006030.4(CACNA2D2):c.3311G>T (p.Gly1104Val) GRCh37: Chr3:50402218 GRCh38: Chr3:50364787	CACNA2D2, CYB561D2, LOC127898564	G1037V, G1104V, G1111V, G1106V	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 80448742.	NM_006030.4(CACNA2D2):c.3307T>A (p.Cys1103Ser) GRCh37: Chr3:50402222 GRCh38: Chr3:50364791	CACNA2D2, CYB561D2, LOC127898564	C1103S, C1036S, C1105S, C1110S	not provided	Uncertain significance (Mar 27, 2019)	criteria provided, single submitter
Select item 109691643.	NM_006030.4(CACNA2D2):c.3300C>T (p.Thr1100=) GRCh37: Chr3:50402229 GRCh38: Chr3:50364798	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 140566644.	NM_006030.4(CACNA2D2):c.3299C>T (p.Thr1100Ile) GRCh37: Chr3:50402230 GRCh38: Chr3:50364799	CACNA2D2, CYB561D2, LOC127898564	T1033I, T1100I, T1102I, T1107I	Inborn genetic diseases, Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157891845.	NM_006030.4(CACNA2D2):c.3292-4G>A GRCh37: Chr3:50402241 GRCh38: Chr3:50364810	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 164113246.	NM_006030.4(CACNA2D2):c.3292-6C>T GRCh37: Chr3:50402243 GRCh38: Chr3:50364812	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Mar 20, 2021)	criteria provided, single submitter
Select item 153517647.	NM_006030.4(CACNA2D2):c.3292-9dup GRCh37: Chr3:50402245-50402246 GRCh38: Chr3:50364814-50364815	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 76568348.	NM_006030.4(CACNA2D2):c.3292-8C>A GRCh37: Chr3:50402245 GRCh38: Chr3:50364814	LOC127898564, CACNA2D2, CYB561D2		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Aug 14, 2018)	criteria provided, single submitter
Select item 108935849.	NM_006030.4(CACNA2D2):c.3292-10C>T GRCh37: Chr3:50402247 GRCh38: Chr3:50364816	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 207790750.	NM_006030.4(CACNA2D2):c.3292-12C>T GRCh37: Chr3:50402249 GRCh38: Chr3:50364818	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 154411651.	NM_006030.4(CACNA2D2):c.3292-12C>G GRCh37: Chr3:50402249 GRCh38: Chr3:50364818	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 154577252.	NM_006030.4(CACNA2D2):c.3291+16G>T GRCh37: Chr3:50402303 GRCh38: Chr3:50364872	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 155827853.	NM_006030.4(CACNA2D2):c.3291+14G>A GRCh37: Chr3:50402305 GRCh38: Chr3:50364874	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 135288754.	NM_006030.4(CACNA2D2):c.3291+13G>A GRCh37: Chr3:50402306 GRCh38: Chr3:50364875	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 217684855.	NM_006030.4(CACNA2D2):c.3291+10G>A GRCh37: Chr3:50402309 GRCh38: Chr3:50364878	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 58533856.	NM_006030.4(CACNA2D2):c.3291+10G>C GRCh37: Chr3:50402309 GRCh38: Chr3:50364878	CACNA2D2, CYB561D2, LOC127898564		not provided, Early infantile epileptic encephalopathy with suppression bursts	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103623657.	NM_006030.4(CACNA2D2):c.3287C>T (p.Ala1096Val) GRCh37: Chr3:50402323 GRCh38: Chr3:50364892	CACNA2D2, CYB561D2, LOC127898564	A1098V, A1103V, A1029V, A1096V	Inborn genetic diseases, Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147877958.	NM_006030.4(CACNA2D2):c.3286G>C (p.Ala1096Pro) GRCh37: Chr3:50402324 GRCh38: Chr3:50364893	CACNA2D2, CYB561D2, LOC127898564	A1098P, A1103P, A1029P, A1096P	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Oct 3, 2021)	criteria provided, single submitter
Select item 24027759.	NM_006030.4(CACNA2D2):c.3286G>A (p.Ala1096Thr) GRCh37: Chr3:50402324 GRCh38: Chr3:50364893	LOC127898564, CYB561D2, CACNA2D2	A1096T, A1103T, A1029T, A1098T	Inborn genetic diseases, Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113817360.	NM_006030.4(CACNA2D2):c.3279C>T (p.Asp1093=) GRCh37: Chr3:50402331 GRCh38: Chr3:50364900	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Jan 27, 2020)	criteria provided, single submitter
Select item 41100861.	NM_006030.4(CACNA2D2):c.3267C>A (p.His1089Gln) GRCh37: Chr3:50402343 GRCh38: Chr3:50364912	CACNA2D2, CYB561D2, LOC127898564	H1089Q, H1096Q, H1091Q, H1022Q	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130468762.	NM_006030.4(CACNA2D2):c.3263C>T (p.Pro1088Leu) GRCh37: Chr3:50402347 GRCh38: Chr3:50364916	CACNA2D2, CYB561D2, LOC127898564	P1021L, P1088L, P1090L, P1095L	not provided	Uncertain significance (Nov 20, 2019)	criteria provided, single submitter
Select item 107926163.	NM_006030.4(CACNA2D2):c.3261C>A (p.Gly1087=) GRCh37: Chr3:50402349 GRCh38: Chr3:50364918	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Nov 20, 2019)	criteria provided, single submitter
Select item 69851664.	NM_006030.4(CACNA2D2):c.3261C>T (p.Gly1087=) GRCh37: Chr3:50402349 GRCh38: Chr3:50364918	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Mar 15, 2020)	criteria provided, single submitter
Select item 196070765.	NM_006030.4(CACNA2D2):c.3244C>A (p.Pro1082Thr) GRCh37: Chr3:50402366 GRCh38: Chr3:50364935	CACNA2D2, CYB561D2, LOC127898564	P1015T, P1082T, P1089T, P1083T, P1084T	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 84291366.	NM_006030.4(CACNA2D2):c.3242G>C (p.Arg1081Thr) GRCh37: Chr3:50402368 GRCh38: Chr3:50364937	CACNA2D2, CYB561D2, LOC127898564	R1014T, R1083T, R1088T, R1081T	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 99891367.	NM_006030.4(CACNA2D2):c.3235G>A (p.Val1079Met) GRCh37: Chr3:50402375 GRCh38: Chr3:50364944	CACNA2D2, CYB561D2, LOC127898564	V1012M, V1079M, V1081M, V1086M	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 53054468.	NM_006030.4(CACNA2D2):c.3225G>A (p.Gln1075=) GRCh37: Chr3:50402385 GRCh38: Chr3:50364954	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 145315169.	NM_006030.4(CACNA2D2):c.3223C>T (p.Gln1075Ter) GRCh37: Chr3:50402387 GRCh38: Chr3:50364956	CACNA2D2, CYB561D2, LOC127898564	Q1077, Q1075, Q1082, Q1008	Early infantile epileptic encephalopathy with suppression bursts	Pathogenic (Dec 10, 2021)	criteria provided, single submitter
Select item 140966570.	NM_006030.4(CACNA2D2):c.3220G>A (p.Glu1074Lys) GRCh37: Chr3:50402390 GRCh38: Chr3:50364959	CACNA2D2, CYB561D2, LOC127898564	E1007K, E1074K, E1081K, E1076K	Inborn genetic diseases, Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Jun 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 69710871.	NM_006030.4(CACNA2D2):c.3219G>C (p.Pro1073=) GRCh37: Chr3:50402391 GRCh38: Chr3:50364960	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 102598772.	NM_006030.4(CACNA2D2):c.3218C>A (p.Pro1073Gln) GRCh37: Chr3:50402392 GRCh38: Chr3:50364961	CACNA2D2, CYB561D2, LOC127898564	P1006Q, P1073Q, P1075Q, P1080Q	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 65610873.	NM_006030.4(CACNA2D2):c.3218C>T (p.Pro1073Leu) GRCh37: Chr3:50402392 GRCh38: Chr3:50364961	CACNA2D2, CYB561D2, LOC127898564	P1073L, P1075L, P1080L, P1006L	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 79564674.	NM_006030.4(CACNA2D2):c.3216C>T (p.Gly1072=) GRCh37: Chr3:50402394 GRCh38: Chr3:50364963	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Jan 24, 2020)	criteria provided, single submitter
Select item 93715175.	NM_006030.4(CACNA2D2):c.3212A>G (p.Asp1071Gly) GRCh37: Chr3:50402398 GRCh38: Chr3:50364967	CACNA2D2, CYB561D2, LOC127898564	D1073G, D1004G, D1071G, D1078G	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 41654976.	NM_006030.4(CACNA2D2):c.3209-4C>T GRCh37: Chr3:50402405 GRCh38: Chr3:50364974	CACNA2D2, CYB561D2, LOC127898564	P1071S, P1002S	Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Sep 3, 2020)	criteria provided, single submitter
Select item 79467177.	NM_006030.4(CACNA2D2):c.3209-6G>A GRCh37: Chr3:50402407 GRCh38: Chr3:50364976	CACNA2D2, CYB561D2, LOC127898564	C1070Y, C1001Y	Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 149825278.	NM_006030.4(CACNA2D2):c.3209-7T>C GRCh37: Chr3:50402408 GRCh38: Chr3:50364977	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 166358779.	NM_006030.4(CACNA2D2):c.3209-16C>A GRCh37: Chr3:50402417 GRCh38: Chr3:50364986	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 163426180.	NM_006030.4(CACNA2D2):c.3209-16C>T GRCh37: Chr3:50402417 GRCh38: Chr3:50364986	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 53063581.	NM_006030.4(CACNA2D2):c.3208+10C>T GRCh37: Chr3:50402496 GRCh38: Chr3:50365065	LOC127898564, CACNA2D2, CYB561D2		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Aug 16, 2021)	criteria provided, single submitter
Select item 211615582.	NM_006030.4(CACNA2D2):c.3208+8_3208+9insA GRCh37: Chr3:50402497-50402498 GRCh38: Chr3:50365066-50365067	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 203880383.	NM_006030.4(CACNA2D2):c.3208+9C>T GRCh37: Chr3:50402497 GRCh38: Chr3:50365066	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 108361684.	NM_006030.4(CACNA2D2):c.3208+9C>G GRCh37: Chr3:50402497 GRCh38: Chr3:50365066	LOC127898564, CACNA2D2, CYB561D2		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 211494685.	NM_006030.4(CACNA2D2):c.3208+8G>A GRCh37: Chr3:50402498 GRCh38: Chr3:50365067	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 217369786.	NM_006030.4(CACNA2D2):c.3205C>T (p.His1069Tyr) GRCh37: Chr3:50402509 GRCh38: Chr3:50365078	CACNA2D2, CYB561D2, LOC127898564	H1000Y, H1069Y, H1070Y, H1076Y	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 112391687.	NM_006030.4(CACNA2D2):c.3204G>T (p.Thr1068=) GRCh37: Chr3:50402510 GRCh38: Chr3:50365079	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 42620688.	NM_006030.4(CACNA2D2):c.3203C>T (p.Thr1068Met) GRCh37: Chr3:50402511 GRCh38: Chr3:50365080	LOC127898564, CYB561D2, CACNA2D2	T1068M, T1075M, T999M	Early infantile epileptic encephalopathy with suppression bursts, not provided	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 157504589.	NM_006030.4(CACNA2D2):c.3198G>A (p.Lys1066=) GRCh37: Chr3:50402516 GRCh38: Chr3:50365085	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 147449390.	NM_006030.4(CACNA2D2):c.3196_3198del (p.Lys1066del) GRCh37: Chr3:50402516-50402518 GRCh38: Chr3:50365085-50365087	CACNA2D2, CYB561D2, LOC127898564	K1066del, K1073del, K997del	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter
Select item 96266491.	NM_006030.4(CACNA2D2):c.3194A>T (p.Gln1065Leu) GRCh37: Chr3:50402520 GRCh38: Chr3:50365089	CACNA2D2, CYB561D2, LOC127898564	Q1072L, Q1065L, Q996L	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 112367592.	NM_006030.4(CACNA2D2):c.3187C>T (p.Leu1063=) GRCh37: Chr3:50402527 GRCh38: Chr3:50365096	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Jul 10, 2019)	criteria provided, single submitter
Select item 113402293.	NM_006030.4(CACNA2D2):c.3186G>T (p.Arg1062=) GRCh37: Chr3:50402528 GRCh38: Chr3:50365097	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Apr 1, 2020)	criteria provided, single submitter
Select item 142268594.	NM_006030.4(CACNA2D2):c.3185G>C (p.Arg1062Pro) GRCh37: Chr3:50402529 GRCh38: Chr3:50365098	CACNA2D2, CYB561D2, LOC127898564	R1069P, R993P, R1062P	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 53056995.	NM_006030.4(CACNA2D2):c.3183C>T (p.Gly1061=) GRCh37: Chr3:50402531 GRCh38: Chr3:50365100	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 112909496.	NM_006030.4(CACNA2D2):c.3180T>A (p.Ala1060=) GRCh37: Chr3:50402534 GRCh38: Chr3:50365103	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 202659797.	NM_006030.4(CACNA2D2):c.3171G>A (p.Gln1057=) GRCh37: Chr3:50402543 GRCh38: Chr3:50365112	CYB561D2, LOC127898564, CACNA2D2		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 85141198.	NM_006030.4(CACNA2D2):c.3167G>C (p.Ser1056Thr) GRCh37: Chr3:50402547 GRCh38: Chr3:50365116	CACNA2D2, CYB561D2, LOC127898564	S1063T, S987T, S1056T	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 109465299.	NM_006030.4(CACNA2D2):c.3159G>C (p.Pro1053=) GRCh37: Chr3:50402555 GRCh38: Chr3:50365124	CACNA2D2, CYB561D2, LOC127898564		Early infantile epileptic encephalopathy with suppression bursts	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 530507100.	NM_006030.4(CACNA2D2):c.3158C>T (p.Pro1053Leu) GRCh37: Chr3:50402556 GRCh38: Chr3:50365125	CACNA2D2, CYB561D2, LOC127898564	P1060L, P1053L, P984L	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter

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