ClinVar Miner

Variants studied for brain disorder

Included ClinVar conditions (1845):
Minimum submission review status: Collection method:
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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 likely risk allele pathogenic, low penetrance risk factor uncertain risk allele other not provided total
19789 13273 78139 70347 14654 41 103 1 6 8 76 6 18 1859 188997

Gene and significance breakdown #

Total genes and gene combinations: 3073
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response 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 10 5283
SYNE1 132 53 2317 1507 227 0 0 0 0 0 0 0 0 4 4045
CACNA1H 1 0 898 1417 698 0 0 0 0 0 0 0 0 2 3014
CACNA1A 200 124 1011 1119 132 0 0 0 0 0 0 0 0 33 2518
FLNA 80 25 727 1179 446 0 0 0 0 0 0 0 0 4 2424
POLG, POLGARF 217 167 1077 1017 73 0 0 0 0 0 0 0 0 7 2400
KIF1A 71 66 802 1267 101 0 0 0 0 0 0 0 0 3 2257
RELN 40 15 1012 1041 152 0 0 0 0 0 0 0 0 7 2204
GLDC 296 282 657 1093 65 0 0 0 0 0 0 0 0 4 2187
SPTAN1 51 50 872 1095 183 0 0 0 0 0 0 0 0 2 2145
ATRX 53 39 525 1216 252 0 0 0 0 0 0 0 0 4 1968
SCN1A, SCN9A 81 24 1132 621 69 0 0 0 0 0 0 1 0 5 1905
DEPDC5 242 82 871 635 62 0 0 0 0 0 0 0 0 66 1885
LOC102724058, SCN1A 563 220 591 500 52 0 0 0 0 0 0 0 0 124 1879
KCNT1 36 37 757 995 120 0 0 0 0 0 0 0 0 5 1874
SCN2A 266 183 765 622 81 0 0 0 0 0 0 0 0 8 1846
SCN1A 629 241 510 376 40 0 0 0 0 0 1 0 0 103 1744
GRIN2A 134 140 653 715 169 0 0 0 0 0 0 0 0 10 1699
KCNQ2 397 208 513 510 56 0 0 0 0 0 0 0 0 163 1688
CHD2 189 84 620 689 81 0 0 0 0 0 0 0 0 5 1630
ANKRD11 247 94 608 498 208 0 0 0 0 0 0 0 0 5 1593
PEX6 149 98 544 836 37 0 0 0 0 0 0 0 0 3 1590
MECP2 596 229 405 396 248 0 0 0 0 0 0 0 0 11 1563
SCN8A 94 120 696 608 68 0 0 0 0 0 0 0 0 38 1550
CREBBP 268 99 386 594 226 0 0 0 0 0 0 0 0 5 1502
DOCK7 50 24 644 634 38 0 0 0 0 0 0 0 0 0 1377
ABCD1 275 198 355 529 106 0 0 0 0 0 0 0 0 4 1316
SYNJ1 34 12 634 540 44 0 0 0 0 0 0 0 0 2 1259
JMJD1C 0 0 780 414 60 0 1 0 0 0 0 0 0 0 1254
SYNGAP1 207 81 382 482 120 0 0 0 0 0 0 0 0 10 1233
SETX 45 28 492 457 342 0 0 0 0 0 0 0 0 4 1219
MED12 16 25 453 533 172 0 0 0 0 0 0 0 0 52 1206
GRIN2B 87 114 370 524 159 0 0 0 0 0 0 0 0 2 1201
MBD5 68 14 610 470 57 0 0 0 0 0 0 0 0 7 1197
KIAA0586 83 36 586 407 56 0 0 0 0 0 0 0 0 2 1166
SACS 126 394 587 165 41 1 0 0 0 0 0 0 0 7 1150
DCTN1 10 3 623 479 72 0 0 0 0 0 0 0 0 5 1142
PEX1 138 142 371 548 42 0 0 0 0 0 0 0 0 2 1136
HEXA 193 151 363 456 25 35 0 0 0 0 0 0 2 1 1080
BRAT1 67 15 482 473 54 0 0 0 0 0 0 0 0 0 1071
ZEB2 220 37 384 379 118 0 0 0 0 0 0 0 0 1 1068
KCNQ3 35 16 583 371 120 0 0 0 0 0 0 0 0 26 1066
HCFC1 6 1 114 672 255 0 0 0 0 0 0 0 0 0 1035
SUFU 48 17 521 439 22 0 0 0 0 0 0 0 0 0 1034
HSD17B4 89 144 221 597 43 0 0 0 0 0 0 0 0 1 1030
KCNMA1 12 12 491 512 38 0 0 0 0 0 0 0 0 4 1023
CLN3 113 142 341 486 16 0 0 0 0 0 0 0 0 1 1011
ATP1A2 58 40 439 400 100 0 0 0 0 0 0 0 0 6 995
CYP27A1 145 102 362 455 24 0 0 0 0 0 0 0 0 3 985
PCDH19 236 70 404 253 18 0 0 0 0 0 0 0 0 4 957
EP300 81 41 280 361 218 0 0 0 0 0 0 0 0 3 952
ATP1A3 78 52 306 483 64 0 0 0 0 0 0 0 0 18 941
ALG13 7 2 356 527 91 0 0 0 0 0 0 0 0 1 940
SLC6A8 97 56 187 503 123 0 0 0 0 0 0 0 0 10 936
PNKP 76 26 406 421 40 0 0 0 0 0 0 0 0 1 919
SIK1 5 3 416 417 83 0 0 0 0 0 0 0 0 0 909
ALDH7A1 118 72 341 390 52 0 0 0 0 0 0 0 0 4 907
PEX5 42 20 409 433 29 0 0 0 0 0 0 0 0 0 906
IQSEC2 106 33 302 348 126 0 0 0 0 0 0 0 0 2 897
CDKL5 290 102 215 243 74 0 0 0 0 0 0 0 0 1 884
PLCB1 14 12 425 416 49 0 0 0 0 0 0 0 0 0 879
PIGG 66 16 416 354 38 0 0 0 0 0 0 0 0 1 874
HLCS 89 110 265 430 50 0 0 0 0 0 0 0 0 0 865
ATP13A2 41 23 429 381 50 0 0 0 0 0 0 0 0 3 861
GRIN1 51 48 228 457 69 0 0 0 0 0 0 0 0 1 836
LRRK2 10 3 481 266 100 0 0 0 0 0 2 0 0 117 834
CSPP1 74 18 422 275 33 0 0 0 0 0 0 0 0 1 819
TBC1D24 67 23 456 262 45 0 0 0 0 0 0 0 0 2 810
STXBP1 187 92 196 310 49 0 0 0 0 0 0 0 0 12 799
RANBP2 2 5 443 268 88 0 0 0 0 0 3 0 0 3 795
SLC12A5 29 11 309 406 29 0 0 0 0 0 0 0 0 11 784
HNRNPU 65 31 255 381 52 0 0 0 0 0 0 0 0 7 774
HCN1 24 13 340 365 30 0 0 0 0 0 0 0 0 1 760
ACOX1 43 34 280 389 42 0 0 0 0 0 0 0 0 0 753
DYRK1A 124 47 222 288 72 0 0 0 0 0 0 0 0 3 740
SLC6A1 73 56 222 308 78 0 0 0 0 0 0 0 0 17 718
PEX10 89 66 287 319 20 0 0 0 0 0 0 0 0 1 717
CHRNA4 3 2 313 357 48 0 0 0 0 0 0 0 0 4 701
HEXB 126 96 154 372 21 0 0 0 0 0 0 0 0 1 699
WWOX 68 24 313 251 46 0 1 0 0 0 0 0 0 2 686
CNTN2 20 9 305 322 29 0 0 0 0 0 0 0 0 0 675
CLN6 81 58 252 318 25 0 0 0 0 0 0 0 0 3 673
SMARCA4 14 32 485 79 81 0 0 0 0 0 0 0 1 2 669
HBA-LCR, NPRL3 75 33 317 220 29 0 0 0 0 0 0 0 0 2 663
KCNH5 6 3 281 290 70 0 0 0 0 0 0 0 0 0 649
CACNA2D2 22 11 260 330 23 0 0 0 0 0 0 0 0 0 646
CHRNA2 2 1 338 260 65 0 0 0 0 0 0 0 0 3 639
FOXG1 134 66 165 240 56 0 0 0 0 0 0 0 0 4 624
PIGQ 31 6 302 257 31 0 0 0 0 0 0 0 0 1 624
AMT 76 82 188 317 13 0 0 0 0 0 0 0 0 3 608
SZT2 28 22 376 132 49 0 0 0 0 0 0 0 0 12 604
KCNB1 40 44 205 254 86 0 0 0 0 0 0 0 0 0 601
SLC13A5 31 25 257 283 22 0 0 0 0 0 0 0 0 0 601
PEX7 63 73 188 287 27 0 0 0 0 0 0 0 0 11 596
BTD 164 157 196 202 14 0 0 0 0 0 0 0 0 6 593
PACS1 2 2 198 315 77 0 0 0 0 0 0 0 0 1 584
SLC19A3 52 18 260 227 46 0 0 0 0 0 0 0 0 1 579
ARHGEF15 0 1 329 188 36 0 0 0 0 0 0 0 0 0 554
CTSD 31 10 211 305 21 0 0 0 0 0 0 0 0 0 554
PEX16 23 14 204 307 20 0 0 0 0 0 0 0 0 1 551
DLD 55 75 128 298 38 0 0 0 0 0 0 0 0 0 546
GABRG2 74 43 258 170 26 0 0 0 0 0 0 0 0 1 543
PRICKLE2 3 0 349 158 41 0 0 0 0 0 0 0 0 0 534
BTK 143 35 141 171 49 0 0 0 0 0 0 0 0 0 528
ARX 39 19 183 267 21 0 0 0 0 0 0 0 0 1 521
PEX26 35 20 254 191 40 0 0 0 0 0 0 0 0 0 516
TSC2 24 15 303 153 3 0 0 0 0 0 0 0 0 13 506
CLN8 52 56 215 215 9 0 0 0 0 0 0 0 0 4 500
SATB2 68 37 118 217 62 0 0 0 0 0 0 0 0 12 498
GRN 52 9 235 182 21 0 0 0 0 0 0 0 0 0 495
VRK1 61 27 147 248 13 0 0 0 0 0 0 0 0 1 476
RELN, SLC26A5 7 2 224 235 25 0 0 0 0 0 0 0 0 1 474
PEX12 84 44 211 161 13 0 0 0 0 0 0 0 0 0 473
SLC25A22 15 5 237 215 26 0 0 0 0 0 0 0 0 0 470
CLN5 66 15 190 197 13 0 0 0 0 0 0 0 0 0 469
LMNB2 1 0 212 221 39 0 0 0 0 0 0 0 0 0 469
DNM1 14 11 156 246 41 0 0 0 0 0 0 0 0 1 464
CHRNB2 4 3 242 202 18 0 0 0 0 0 0 0 0 3 461
CEP290 84 41 252 68 23 0 0 0 0 0 0 0 0 2 457
PEX13 27 3 268 153 15 0 0 0 0 0 0 0 0 0 456
PEX2 54 32 226 146 23 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 3 454
GATM 16 13 224 194 23 0 0 0 0 0 0 0 0 3 453
AGXT 222 133 125 39 32 0 0 0 0 0 0 0 0 13 447
TSC1 10 7 279 67 86 0 0 0 0 0 0 0 0 3 443
PDHA1 76 43 77 204 67 0 0 0 0 0 0 0 0 0 439
GABRA1 33 27 173 170 36 0 0 0 0 0 0 0 0 0 424
GAMT 58 45 172 192 11 0 0 0 0 0 0 0 0 7 422
SYN1 43 17 174 172 18 0 0 0 0 0 0 0 0 1 412
TLR3 0 1 257 125 21 0 0 0 0 0 9 0 0 0 406
ARID1B 162 79 101 27 39 0 0 0 0 0 0 0 1 10 401
GABRB2 15 22 137 180 51 0 0 0 0 0 2 0 0 2 400
PEX14 5 4 194 191 27 0 0 0 0 0 0 0 0 0 400
PRICKLE1 5 0 251 130 15 0 0 0 0 0 0 0 0 2 394
PIK3AP1 0 0 201 159 32 0 0 0 0 0 0 0 0 0 392
COL4A1 48 57 147 116 91 0 0 0 0 0 0 0 0 9 391
SCN9A 17 7 232 129 7 0 0 0 0 0 0 0 0 1 391
LGI1 36 13 195 138 10 0 0 0 0 0 0 0 0 6 388
SCARB2 26 9 183 165 12 0 0 0 0 0 0 0 0 17 388
KCNC1 4 10 189 171 14 0 0 0 0 0 0 0 0 0 384
PEX19 9 8 210 147 24 0 0 0 0 0 0 0 0 0 383
CEP41 13 5 228 113 24 0 0 0 0 0 0 0 0 0 372
SLC6A3 8 6 129 199 35 0 0 0 0 0 0 1 0 0 367
EFHC1 2 0 242 107 32 0 1 0 0 0 7 0 0 1 363
KCNA2 28 22 191 121 10 0 0 0 0 0 0 0 0 3 363
MEF2C 54 33 100 157 27 0 0 0 0 0 0 0 0 3 363
RBFOX1 3 9 172 165 16 0 0 0 0 0 0 0 0 0 362
EEF1A2 13 17 95 214 32 0 0 0 0 0 0 0 0 2 358
FRRS1L 28 6 193 122 11 0 0 0 0 0 0 0 0 1 357
GNAO1 42 35 95 165 28 0 0 0 0 0 0 0 0 1 357
TMEM237 25 12 203 113 23 0 0 0 0 0 0 0 0 0 357
MAN1B1 22 6 170 151 42 0 0 0 0 0 0 0 0 0 356
PDGFRB 5 2 90 177 80 0 0 0 0 0 0 0 0 2 352
TBL1XR1 24 26 121 166 20 0 0 0 0 0 0 0 0 1 352
TICAM1 0 0 198 142 11 0 0 0 0 0 4 0 0 0 352
KCND2 5 1 179 149 14 0 0 0 0 0 0 0 0 0 348
SLC2A1 80 48 133 54 52 0 0 0 0 0 0 0 0 11 348
ARHGEF9 26 12 142 142 30 0 0 0 0 0 0 0 0 3 346
DYNC1H1 16 37 175 67 56 0 0 0 0 0 0 0 0 6 342
AMACR, C1QTNF3-AMACR 2 1 212 120 16 0 0 0 0 0 0 0 0 0 339
STRADA 15 3 162 151 7 0 0 0 0 0 0 0 0 1 336
TPP1 54 80 185 18 26 0 0 0 0 0 0 0 0 28 336
SNX27 14 0 133 176 12 0 0 0 0 0 0 0 0 0 335
TMEM231 31 9 159 126 16 0 0 0 0 0 0 0 0 0 334
GABRD 0 0 146 166 20 0 0 0 0 0 0 0 0 0 332
PNPO 25 17 146 134 20 0 0 0 0 0 0 0 0 3 332
FBXO7 37 6 92 196 15 0 0 0 0 0 0 0 0 0 331
DNAJC5 4 0 157 113 63 0 0 0 0 0 0 0 0 0 330
PRDM8 1 0 187 123 13 0 0 0 0 0 0 0 0 0 324
UNC93B1 4 2 156 140 22 0 0 0 0 0 2 0 0 1 323
KCTD7 23 25 173 99 21 2 0 0 0 0 0 0 0 0 320
NHLRC1 27 10 184 88 16 0 0 0 0 0 0 0 0 5 316
AHI1 62 35 174 41 20 0 0 0 0 0 0 0 0 0 315
SERPINI1 6 0 185 105 23 0 0 0 0 0 0 0 0 0 313
ST3GAL3 13 11 127 150 13 0 0 0 0 0 0 0 0 0 310
LIAS 20 8 151 123 11 0 0 0 0 0 0 0 0 4 308
TRAF3 0 0 131 151 22 0 0 0 0 0 1 0 0 0 304
RPGRIP1L 18 35 191 41 17 0 0 0 0 0 0 0 0 1 300
STX1B 27 21 109 121 18 0 0 0 0 0 0 0 0 0 294
PINK1 31 8 161 94 20 0 0 0 0 0 1 0 0 3 291
CDH23 42 114 103 12 11 0 0 0 0 0 0 0 0 0 279
PDHB 24 15 58 182 21 0 0 0 0 0 0 0 0 0 279
MLC1 30 66 110 37 64 0 0 0 0 0 0 0 0 7 278
KCND3 12 13 107 127 24 0 0 0 0 0 0 0 0 0 277
CERS1, GDF1 3 1 130 135 9 0 0 0 0 0 0 0 0 0 276
COL4A2 6 17 117 28 115 0 0 0 0 0 0 0 0 0 275
RBFOX3 1 0 113 148 13 0 0 0 0 0 0 0 0 0 273
ITPR1 12 14 124 51 79 0 0 0 0 0 0 0 0 3 268
CACNA2D2, CYB561D2, LOC101928965, LOC127898564 10 4 114 133 6 0 0 0 0 0 0 0 0 0 267
SIL1 22 7 139 98 18 0 0 0 0 0 0 0 0 0 265
PGAP1 21 12 110 99 26 0 0 0 0 0 0 0 0 1 262
SMARCA2 33 37 92 26 73 0 1 0 0 0 0 0 0 2 253
MTTP 20 59 114 28 38 0 0 0 0 0 0 0 0 5 246
PIGA 13 17 128 65 33 0 0 0 0 0 0 0 0 0 244
POGZ 53 44 57 34 14 0 47 0 0 0 0 0 0 4 241
SMAD4 8 3 167 17 49 0 0 0 0 0 0 0 0 5 240
PIK3R2 4 4 76 105 50 0 0 0 0 0 0 0 0 2 237
RPS6KA3 62 28 44 60 50 0 0 0 0 0 0 0 0 1 236
CACNA1E 8 16 78 67 74 0 0 0 0 0 0 0 0 0 233
MED13L 84 44 91 17 1 0 0 0 0 0 0 0 0 1 231
SLC6A9 5 3 84 117 16 0 0 0 0 0 0 0 0 3 225
CC2D2A 50 18 127 11 22 0 0 0 0 0 0 0 0 0 221
AHDC1 65 18 53 15 56 0 0 0 0 0 0 0 0 5 203
EXOSC3 28 11 64 104 10 0 0 0 0 0 0 0 0 2 203
PSEN1 51 16 73 51 13 0 0 0 0 0 0 0 0 0 203
TP53 17 173 6 5 2 0 0 0 0 0 0 0 0 0 196
DNAJC6 9 3 87 69 27 0 0 0 0 0 0 0 0 9 195
ZDHHC9 8 8 71 85 28 0 0 0 0 0 0 0 0 1 195
AGPS 4 18 124 23 34 0 0 0 0 0 0 0 0 0 194
EPM2A 23 5 99 62 7 0 0 0 0 0 0 0 0 2 193
GOSR2, LRRC37A2 8 2 109 66 12 0 0 0 0 0 0 0 0 0 191
ARFGEF1, CSPP1 8 5 103 66 10 0 0 0 0 0 0 0 0 0 190
SPTBN2 11 20 115 38 21 0 0 0 0 0 0 0 0 2 189
GAD1 10 5 86 85 15 0 0 0 0 0 0 0 0 0 188
BRCA2 68 5 69 26 17 0 0 0 0 0 0 0 0 1 186
PRKN 40 26 88 21 18 0 0 0 0 0 0 0 0 3 185
CACNB4 0 0 93 70 19 0 0 0 0 0 0 0 0 0 179
COQ8A 31 28 81 16 27 0 0 0 0 0 0 0 0 19 170
DDX3X 86 63 19 4 1 0 0 0 0 0 0 0 3 18 170
DLAT 10 5 63 82 15 0 0 0 0 0 0 0 0 0 169
BRWD3 11 11 87 10 50 0 0 0 0 0 0 0 0 0 167
ELP1 6 13 113 35 1 0 0 0 0 0 0 0 0 0 167
UPF3B 10 6 52 66 35 0 0 0 0 0 0 0 0 0 166
EPM2A, EPM2A-DT, LOC129997381 14 6 82 59 3 0 0 0 0 0 0 0 0 2 160
ARID1A 25 24 61 12 42 0 0 0 0 0 0 0 1 2 159
FLVCR1 6 5 95 9 47 0 0 0 0 0 0 0 0 1 159
HUWE1 15 30 103 11 4 0 0 0 0 0 0 0 0 2 159
TRIO 24 38 85 7 13 0 0 0 0 0 0 0 0 8 158
ASH1L 16 15 98 18 5 0 0 0 0 0 0 0 0 6 157
NPHP1 12 39 86 16 5 0 0 0 0 0 0 0 0 0 156
CPT2 26 36 72 23 6 0 0 0 0 0 1 0 0 0 155
MAF, WWOX 8 1 83 52 9 0 0 0 0 0 0 0 0 0 151
ASXL1 37 19 34 14 54 0 0 0 0 0 0 0 0 0 149
ATP6AP2 4 1 73 61 11 0 0 0 0 0 0 0 0 0 147
NECAP1 3 1 78 64 3 0 0 0 0 0 0 0 0 0 147
VPS35 1 1 67 59 18 0 0 0 0 0 0 0 0 13 146
ATCAY 2 0 97 17 29 0 0 0 0 0 0 0 0 0 145
ADNP 45 32 40 13 23 0 0 0 0 0 0 0 0 7 144
TRIM37 20 41 74 7 11 0 0 0 0 0 0 0 0 0 142
KAT6A 47 28 52 16 0 0 1 0 0 0 0 0 0 2 141
GAMT, LOC130062945 25 15 59 50 1 0 0 0 0 0 0 0 0 1 137
CACNA2D2, CYB561D2, LOC127898564 2 0 43 85 5 0 0 0 0 0 0 0 0 0 135
OGDH 4 0 42 61 28 0 0 0 0 0 0 0 0 0 135
PRIMA1 2 0 63 64 6 0 0 0 0 0 0 0 0 0 135
FOXP1 54 32 48 7 1 0 0 0 0 0 0 0 0 2 134
TTPA 16 38