ClinVar Miner

Variants studied for central nervous system disorder

Included ClinVar conditions (2504):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response established risk allele likely risk allele pathogenic, low penetrance risk factor uncertain risk allele other not provided total
26622 17475 108997 96373 19712 50 106 1 1 6 8 104 6 34 2818 258641

Gene and significance breakdown #

Total genes and gene combinations: 3761
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response established risk allele likely risk allele pathogenic, low penetrance risk factor uncertain risk allele other not provided total
VPS13B 602 438 1978 2460 156 0 0 0 0 0 0 0 0 0 10 5283
SMARCA4 131 83 2081 2271 122 0 0 0 0 0 0 0 0 1 2 4590
SYNE1 134 53 2317 1507 227 0 0 0 0 0 0 0 0 0 4 4047
LYST 116 80 1445 1468 94 0 0 0 0 0 0 0 0 0 44 3107
CACNA1H 1 0 898 1417 698 0 0 0 0 0 0 0 0 0 2 3014
SPG11 385 108 1227 1258 70 1 1 0 0 0 0 0 0 0 93 2904
CACNA1A 200 124 1011 1119 132 0 0 0 0 0 0 0 0 0 33 2518
FLNA 80 25 727 1179 446 0 0 0 0 0 0 0 0 0 4 2424
KIF1A 95 93 1002 1286 113 0 0 0 0 0 0 0 0 0 6 2407
POLG, POLGARF 217 167 1089 1022 73 0 0 0 0 0 0 0 0 0 7 2401
SDHA 156 85 1246 808 53 0 0 0 0 0 0 0 0 0 9 2298
RELN 40 15 1012 1041 152 0 0 0 0 0 0 0 0 0 7 2204
GLDC 296 282 657 1093 65 0 0 0 0 0 0 0 0 0 4 2187
SPTAN1 55 53 872 1095 183 0 0 0 0 0 0 0 0 0 2 2150
ATRX 53 39 526 1216 252 0 0 0 0 0 0 0 0 0 4 1969
SCN1A, SCN9A 81 24 1132 621 69 0 0 0 0 0 0 0 1 0 5 1905
DEPDC5 242 82 871 635 62 0 0 0 0 0 0 0 0 0 66 1885
LOC102724058, SCN1A 563 220 591 500 52 0 0 0 0 0 0 0 0 0 124 1879
KCNT1 36 37 757 995 120 0 0 0 0 0 0 0 0 0 5 1874
SCN2A 266 183 765 622 81 0 0 0 0 0 0 0 0 0 8 1846
SCN1A 629 241 510 376 40 0 0 0 0 0 0 1 0 0 103 1744
GRIN2A 134 140 653 715 169 0 0 0 0 0 0 0 0 0 10 1699
KCNQ2 397 208 513 510 56 0 0 0 0 0 0 0 0 0 163 1688
CHD2 189 84 620 689 81 0 0 0 0 0 0 0 0 0 5 1630
ANKRD11 247 94 608 498 208 0 0 0 0 0 0 0 0 0 5 1593
PEX6 149 98 544 836 37 0 0 0 0 0 0 0 0 0 3 1590
MECP2 596 229 405 396 248 0 0 0 0 0 0 0 0 0 11 1563
SCN8A 94 120 696 608 68 0 0 0 0 0 0 0 0 0 38 1550
CREBBP 268 100 386 594 226 0 0 0 0 0 0 0 0 0 5 1503
ATP7A 54 76 401 824 134 0 0 0 0 0 0 0 0 0 1 1475
DOCK7 50 24 644 634 38 0 0 0 0 0 0 0 0 0 0 1377
ABCD1 275 198 355 529 106 0 0 0 0 0 0 0 0 0 4 1316
IFIH1 31 10 697 504 63 0 0 0 0 0 0 0 0 0 4 1270
SYNJ1 34 12 634 540 44 0 0 0 0 0 0 0 0 0 2 1259
SETX 49 39 547 472 355 0 0 0 0 0 0 0 0 0 4 1256
JMJD1C 0 0 780 414 60 0 1 0 0 0 0 0 0 0 0 1254
SYNGAP1 207 81 382 482 120 0 0 0 0 0 0 0 0 0 10 1233
MED12 16 25 453 533 172 0 0 0 0 0 0 0 0 1 52 1207
GRIN2B 87 114 370 524 159 0 0 0 0 0 0 0 0 0 2 1201
MBD5 68 14 610 470 57 0 0 0 0 0 0 0 0 0 7 1197
SACS 128 399 624 174 41 1 0 0 0 0 0 0 0 0 7 1187
TECPR2 68 33 251 851 54 0 0 0 0 0 0 0 0 0 3 1183
KIAA0586 83 36 586 407 56 0 0 0 0 0 0 0 0 0 2 1166
GALC 209 190 315 494 78 0 0 0 0 0 0 0 0 3 12 1159
MRE11 77 82 618 402 41 0 0 0 0 0 0 0 0 0 2 1156
DCTN1 11 7 633 480 74 0 0 0 0 0 0 0 0 0 5 1151
PLEKHG5 50 19 459 588 62 0 0 0 0 0 0 0 0 0 5 1148
PEX1 138 142 371 548 42 0 0 0 0 0 0 0 0 0 2 1136
PNPLA6 63 28 510 537 69 0 0 0 0 0 0 0 0 0 3 1135
IGHMBP2 114 50 499 519 56 0 0 0 0 0 0 0 0 0 4 1130
DNMT1 7 7 488 566 86 0 0 0 0 0 0 0 0 0 1 1101
HEXA 193 151 363 456 25 35 0 0 0 0 0 0 0 2 1 1080
BRAT1 67 15 482 473 54 0 0 0 0 0 0 0 0 0 0 1071
ZEB2 220 37 384 379 118 0 0 0 0 0 0 0 0 0 1 1068
KCNQ3 35 16 583 371 120 0 0 0 0 0 0 0 0 0 26 1066
ADAR 41 17 594 401 22 0 0 0 0 0 0 0 0 0 2 1062
ARSA 213 186 330 408 44 0 0 0 0 0 0 0 0 1 15 1053
SDHB 166 63 508 318 20 0 0 0 0 0 0 0 0 0 1 1047
SUFU 48 18 525 439 22 0 0 0 0 0 0 1 0 0 0 1038
HCFC1 6 1 114 672 255 0 0 0 0 0 0 0 0 0 0 1035
HSD17B4 89 144 221 597 43 0 0 0 0 0 0 0 0 0 1 1030
KCNMA1 12 12 491 512 38 0 0 0 0 0 0 0 0 0 4 1023
CLN3 113 142 341 486 16 0 0 0 0 0 0 0 0 0 1 1011
SPAST 416 111 315 182 50 0 0 0 0 0 0 1 0 1 11 1009
ATP1A2 60 43 443 403 107 0 0 0 0 0 0 0 0 0 6 1000
CYP27A1 145 102 362 455 24 0 0 0 0 0 0 0 0 0 3 985
ATP1A3 85 64 313 484 64 0 0 0 0 0 0 0 0 0 18 962
PCDH19 236 70 404 253 18 0 0 0 0 0 0 0 0 0 4 957
EP300 81 41 280 361 218 0 0 0 0 0 0 0 0 0 3 952
ALG13 7 2 356 527 91 0 0 0 0 0 0 0 0 0 1 940
SLC6A8 97 56 187 503 123 0 0 0 0 0 0 0 0 0 10 936
PNKP 76 26 406 421 40 0 0 0 0 0 0 0 0 0 1 919
SIK1 5 3 416 417 83 0 0 0 0 0 0 0 0 0 0 909
ALDH7A1 118 72 341 390 52 0 0 0 0 0 0 0 0 0 4 907
PEX5 42 20 409 433 29 0 0 0 0 0 0 0 0 0 0 906
IQSEC2 106 33 302 348 126 0 0 0 0 0 0 0 0 0 2 897
CDKL5 290 102 215 243 74 0 0 0 0 0 0 0 0 0 1 884
PLCB1 14 12 425 416 49 0 0 0 0 0 0 0 0 0 0 879
PLA2G6 117 79 301 442 24 0 0 0 0 0 0 0 0 0 1 876
PIGG 66 16 416 354 38 0 0 0 0 0 0 0 0 0 1 874
ATP13A2 49 27 430 381 50 0 0 0 0 0 0 0 0 0 3 872
HLCS 89 110 265 430 50 0 0 0 0 0 0 0 0 0 0 865
GRIN1 51 48 228 457 69 0 0 0 0 0 0 0 0 0 1 836
LRRK2 10 3 482 266 100 0 0 0 0 0 0 2 0 0 117 835
MFSD8 101 51 336 347 28 0 0 0 0 0 0 0 0 0 0 834
CSPP1 74 18 422 275 33 0 0 0 0 0 0 0 0 0 1 819
AP5Z1 30 19 477 304 70 0 0 0 0 0 0 0 0 0 1 810
TBC1D24 67 23 456 262 45 0 0 0 0 0 0 0 0 0 2 810
ALS2 71 41 383 308 53 0 0 0 0 0 0 0 0 0 0 805
STXBP1 187 92 196 310 49 0 0 0 0 0 0 0 0 0 12 799
RANBP2 2 5 443 268 88 0 0 0 0 0 0 3 0 0 3 795
PSAP 48 27 277 450 31 0 0 0 0 0 0 0 0 0 0 784
SLC12A5 29 11 309 406 29 0 0 0 0 0 0 0 0 0 11 784
QARS1 40 26 335 362 24 0 0 0 0 0 0 0 0 0 0 776
HNRNPU 65 31 255 381 52 0 0 0 0 0 0 0 0 0 7 774
SAMHD1 97 40 278 371 9 0 0 0 0 0 0 0 0 0 19 772
HCN1 24 13 340 365 30 0 0 0 0 0 0 0 0 0 1 760
ACOX1 43 34 280 389 42 0 0 0 0 0 0 0 0 0 0 753
DYRK1A 124 47 222 288 72 0 0 0 0 0 0 0 0 0 3 740
SLC6A1 73 56 222 308 78 0 0 0 0 0 0 0 0 0 17 718
PEX10 89 66 287 319 20 0 0 0 0 0 0 0 0 0 1 717
BICD2 15 18 303 341 53 0 0 0 0 0 0 0 0 0 3 709
SMARCE1 27 13 388 264 13 0 0 0 0 0 0 4 0 0 0 704
CHRNA4 3 3 313 358 48 0 0 0 0 0 0 0 0 0 4 701
HEXB 126 96 154 372 21 0 0 0 0 0 0 0 0 0 1 699
PHOX2B 19 7 396 256 24 0 0 0 0 0 0 0 0 0 0 697
WWOX 68 24 313 251 46 0 1 0 0 0 0 0 0 0 2 686
CNTN2 20 9 305 322 29 0 0 0 0 0 0 0 0 0 0 675
CLN6 81 58 252 318 25 0 0 0 0 0 0 0 0 0 3 673
HBA-LCR, NPRL3 75 33 317 220 29 0 0 0 0 0 0 0 0 0 2 663
SPG7 118 48 305 222 38 0 0 0 0 0 0 0 0 0 10 651
KCNH5 6 3 281 290 70 0 0 0 0 0 0 0 0 0 0 649
CACNA2D2 22 11 260 330 23 0 0 0 0 0 0 0 0 0 0 646
CHRNA2 2 1 338 260 65 0 0 0 0 0 0 0 0 0 3 639
PPT1 88 127 202 241 28 0 0 0 0 0 0 0 0 0 3 625
FOXG1 134 66 165 240 56 0 0 0 0 0 0 0 0 0 4 624
PIGQ 31 6 302 257 31 0 0 0 0 0 0 0 0 0 1 624
AMT 76 82 188 317 13 0 0 0 0 0 0 0 0 0 3 608
SZT2 28 22 376 132 49 0 0 0 0 0 0 0 0 0 12 604
FBXO38 2 1 342 230 28 0 0 0 0 0 0 0 0 0 3 601
KCNB1 40 44 205 254 86 0 0 0 0 0 0 0 0 0 0 601
SDHC 59 27 310 207 6 0 0 0 0 0 0 0 0 0 0 601
SLC13A5 31 25 257 283 22 0 0 0 0 0 0 0 0 0 0 601
PEX7 63 73 188 287 27 0 0 0 0 0 0 0 0 0 11 596
BTD 164 157 196 202 14 0 0 0 0 0 0 0 0 0 6 593
PACS1 2 2 198 315 77 0 0 0 0 0 0 0 0 0 1 584
SLC19A3 52 18 260 227 46 0 0 0 0 0 0 0 0 0 1 579
SQSTM1 31 5 301 211 32 0 0 0 0 0 0 0 0 0 0 573
ARHGEF15 0 1 329 188 36 0 0 0 0 0 0 0 0 0 0 554
CTSD 31 10 211 305 21 0 0 0 0 0 0 0 0 0 0 554
PEX16 23 14 204 307 20 0 0 0 0 0 0 0 0 0 1 551
GRN 79 12 264 195 25 0 0 0 0 0 0 0 0 0 3 547
DLD 55 75 128 298 38 0 0 0 0 0 0 0 0 0 0 546
GABRG2 74 43 258 170 26 0 0 0 0 0 0 0 0 0 1 543
AR 97 20 76 242 107 0 0 0 0 0 0 0 0 0 0 541
CLN5 75 75 235 204 21 0 0 0 0 0 0 0 0 0 2 541
PRICKLE2 3 0 349 158 41 0 0 0 0 0 0 0 0 0 0 534
BTK 143 35 141 171 49 0 0 0 0 0 0 0 0 0 0 528
ARX 39 19 183 267 21 0 0 0 0 0 0 0 0 0 1 521
PEX26 35 20 254 191 40 0 0 0 0 0 0 0 0 0 0 516
TSC2 24 15 303 153 3 0 0 0 0 0 0 0 0 0 13 506
CLN8 52 56 215 215 9 0 0 0 0 0 0 0 0 0 4 500
SATB2 68 37 118 217 62 0 0 0 0 0 0 0 0 0 12 498
VCP 22 18 167 267 35 0 0 0 0 0 0 0 0 0 1 489
ZFYVE26 33 157 258 40 51 0 0 0 0 0 0 0 0 0 1 488
VRK1 64 33 150 248 13 0 0 0 0 0 0 0 0 0 1 480
ATRIP, ATRIP-TREX1, TREX1 50 25 277 132 13 0 0 0 0 0 0 0 0 0 14 478
RELN, SLC26A5 7 2 224 235 25 0 0 0 0 0 0 0 0 0 1 474
PEX12 84 44 211 161 13 0 0 0 0 0 0 0 0 0 0 473
SLC25A22 15 5 237 215 26 0 0 0 0 0 0 0 0 0 0 470
LMNB2 1 0 212 221 39 0 0 0 0 0 0 0 0 0 0 469
DNM1 14 11 156 246 41 0 0 0 0 0 0 0 0 0 1 464
CHRNB2 4 3 242 202 18 0 0 0 0 0 0 0 0 0 3 461
CEP290 84 41 252 68 23 0 0 0 0 0 0 0 0 0 2 457
PEX13 27 3 268 153 15 0 0 0 0 0 0 0 0 0 0 456
PEX2 54 32 226 146 23 0 0 0 0 0 0 0 0 0 1 455
GATAD1, PEX1 55 54 149 232 16 0 0 0 0 0 0 0 0 0 3 454
CP 69 7 222 149 43 0 0 0 0 0 0 0 0 0 2 453
GATM 16 13 224 194 23 0 0 0 0 0 0 0 0 0 3 453
AGXT 222 133 125 39 32 0 0 0 0 0 0 0 0 0 13 447
TSC1 10 7 281 67 86 0 0 0 0 0 0 0 0 0 3 445
ATL1 50 39 217 135 38 0 0 0 0 0 0 0 0 0 12 443
PDHA1 76 43 77 204 67 0 0 0 0 0 0 0 0 0 0 439
UBA1 3 0 184 171 88 0 0 0 0 0 0 0 0 0 3 438
VPS13A 37 29 217 92 105 0 0 0 0 0 0 0 0 0 1 436
OPA3 7 3 209 131 79 0 0 0 0 0 0 0 0 0 4 429
SLC52A2 30 9 216 167 15 0 0 0 0 0 0 0 0 0 12 429
GABRA1 33 27 173 170 36 0 0 0 0 0 0 0 0 0 0 424
GAMT 58 45 172 192 11 0 0 0 0 0 0 0 0 0 7 422
SLC5A7 1 2 244 161 9 0 0 0 0 0 0 0 0 0 0 417
SYN1 43 17 174 172 18 0 0 0 0 0 0 0 0 0 1 412
PANK2 77 32 119 187 12 0 0 0 0 0 0 0 0 0 5 406
TLR3 0 1 257 125 21 0 0 0 0 0 0 9 0 0 0 406
DCAF17 27 11 126 206 43 0 0 0 0 0 0 0 0 0 1 402
RNASEH2A 17 17 167 204 13 0 0 0 0 0 0 0 0 0 8 402
ARID1B 162 79 101 27 39 0 0 0 0 0 0 0 0 1 10 401
GABRB2 15 22 137 180 51 0 0 0 0 0 0 2 0 0 2 400
PEX14 5 4 194 191 27 0 0 0 0 0 0 0 0 0 0 400
RNASEH2B 23 20 158 199 13 0 0 0 0 0 0 0 0 0 0 399
KIF1C 14 5 180 186 41 0 0 0 0 0 0 0 0 0 0 398
PRICKLE1 5 0 251 130 15 0 0 0 0 0 0 0 0 0 2 394
PIK3AP1 0 0 201 159 32 0 0 0 0 0 0 0 0 0 0 392
COL4A1 48 57 147 116 91 0 0 0 0 0 0 0 0 0 9 391
SCN9A 17 7 232 129 7 0 0 0 0 0 0 0 0 0 1 391
LGI1 36 13 195 138 10 0 0 0 0 0 0 0 0 0 6 388
SCARB2 26 9 183 165 12 0 0 0 0 0 0 0 0 0 17 388
DYNC1H1 24 51 197 68 56 0 0 0 0 0 0 0 0 0 9 385
SLC52A3 25 9 191 134 28 0 0 0 0 0 0 0 0 0 24