ClinVar Miner

Variants studied for congenital nervous system disorder

Included ClinVar conditions (1954):
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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 drug response risk factor other not provided total
17294 7209 52101 13894 12406 2 2 24 7 332 98357

Gene and significance breakdown #

Total genes and gene combinations: 1789
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects drug response risk factor other not provided total
NF1 1405 322 2220 656 86 0 0 1 0 4 4545
ATM 589 242 2294 544 93 0 0 0 0 0 3562
ATM, C11orf65 338 171 1429 298 64 0 0 0 0 2 2193
PLEC 9 5 1107 446 178 0 0 0 0 1 1746
ALMS1 142 138 741 298 95 0 0 0 0 2 1381
PTCH1 145 30 835 300 98 0 0 0 0 1 1347
SYNE1 48 11 969 229 164 0 0 0 0 2 1320
VPS13B 146 301 704 198 85 0 0 0 0 4 1302
COL4A5 807 66 35 5 20 0 0 0 0 1 921
FBN2 18 19 515 149 121 0 0 0 0 2 780
USH2A 173 213 354 50 46 0 0 0 0 0 780
CHD7 226 55 366 87 74 0 0 0 0 1 776
KMT2D 210 146 239 136 83 0 0 0 0 3 759
POLG 109 64 343 202 64 0 0 0 0 3 707
CACNA1A 83 22 383 108 66 0 0 0 0 23 663
LYST 46 6 485 100 56 0 0 0 0 0 645
FLNA 62 27 302 115 122 0 0 0 0 3 623
NF2 87 18 383 93 47 0 0 0 0 0 610
CNTNAP2 26 2 443 114 66 0 0 0 0 2 602
RELN 12 1 450 113 66 0 0 0 0 1 599
FH 129 42 347 78 16 0 0 0 0 0 592
SACS 44 215 302 24 7 1 0 0 0 2 577
CEP290 147 43 293 91 43 0 0 0 0 0 551
NRXN1 15 5 403 99 43 0 0 1 0 0 540
MYO7A 69 116 311 43 34 0 0 0 0 2 538
LOC107303340, VHL 112 40 303 48 47 0 0 0 0 0 525
FRAS1 45 4 284 45 121 0 0 3 0 0 496
PCNT 33 5 316 42 101 0 0 0 0 1 488
ADGRV1 41 23 333 34 67 0 0 0 0 0 485
EHMT1 33 14 230 126 77 0 0 0 0 0 476
NIPBL 235 63 122 40 30 0 0 0 0 0 470
ASPM 141 15 237 42 41 0 0 0 0 0 455
MRE11 26 16 342 62 34 0 0 0 0 1 449
COL4A4 29 84 253 48 38 0 0 0 0 0 442
PCDH15 16 87 298 25 20 0 0 0 0 0 440
JMJD1C 0 0 315 93 30 0 0 0 0 0 438
SETX 26 4 292 69 61 0 0 0 0 0 433
GATA2 19 9 292 81 30 0 0 0 0 0 423
LRP2 17 2 259 51 87 0 0 0 0 3 414
ZEB2 109 12 169 81 46 0 0 0 0 0 409
FBXL4 31 36 321 1 7 0 0 0 0 0 387
NSD1 183 38 95 56 19 0 0 0 0 0 386
ABCC6 355 9 5 5 21 0 0 0 0 2 380
FREM2 10 4 251 32 80 0 0 2 0 0 377
ACVRL1 140 37 112 31 67 0 0 0 0 2 374
VHL 88 29 211 62 8 0 0 0 0 0 371
EPG5 40 15 217 52 46 0 0 0 0 0 362
CBS 57 72 169 82 30 0 0 0 0 2 357
CDH23 21 8 248 25 56 0 0 0 0 2 354
COL4A3, MFF-DT 47 98 174 13 42 0 0 0 0 0 354
DOCK7 11 5 257 63 18 0 0 0 0 0 354
ENG 120 23 155 53 32 0 0 0 0 0 354
GLA, RPL36A-HNRNPH2 153 80 96 49 12 0 0 0 1 3 354
TCF4 64 28 162 45 68 0 0 0 0 0 352
SLC26A4 56 107 182 24 16 0 0 0 0 0 349
CREBBP 191 53 48 19 45 0 0 0 0 1 346
DNMT1 6 3 217 83 65 0 0 0 0 0 345
CC2D2A 65 40 212 39 28 0 0 0 0 0 327
SUFU 22 6 225 64 10 0 0 0 0 0 326
ATRX 29 11 150 58 81 0 0 0 0 2 325
RPGRIP1L 62 15 196 51 29 0 0 0 0 0 319
CPLANE1 70 19 174 43 51 0 0 0 0 0 317
MBD5 25 2 173 88 33 0 0 0 0 1 316
FKTN 26 23 215 50 25 0 0 0 0 0 315
MAN2B1 49 61 161 65 28 0 0 0 0 0 314
GLI3 54 2 90 65 110 0 0 1 0 0 307
PIGO 24 6 236 40 16 0 0 0 0 1 307
AHI1 70 14 162 38 37 0 0 0 0 0 294
DHCR7 66 83 126 53 27 0 0 0 0 2 287
FREM1 4 1 172 33 74 0 0 0 0 0 281
MT-ND5 14 4 114 48 104 0 0 0 0 0 278
PIGN 35 21 166 43 14 0 0 0 0 0 276
TSC1 5 1 155 34 82 0 0 0 0 0 275
EP300 54 19 110 79 49 0 0 0 0 3 274
BBS10 61 73 125 35 17 0 0 0 0 0 271
CDON 4 0 147 37 86 0 0 0 0 0 271
ERCC4 10 3 181 47 41 0 0 0 0 0 269
IDUA 68 62 104 45 26 0 0 0 2 1 266
SNHG14, UBE3A 123 24 104 14 11 0 0 0 0 1 266
HGSNAT 37 22 157 42 27 0 0 0 0 0 262
PEX6 49 43 118 42 31 0 0 0 0 1 258
SIK1 5 0 128 78 51 0 0 0 0 0 258
ITPR1 23 5 112 39 81 0 0 0 0 1 255
MT-CYB 4 0 123 36 94 0 0 0 0 0 253
PEX1 48 82 103 33 26 0 0 0 0 0 252
SGSH 41 41 121 56 29 0 0 0 0 0 251
PTCH2 2 1 155 57 35 0 0 0 0 0 247
POLH 18 3 172 20 39 0 0 0 0 0 245
MT-ATP6 15 4 85 47 92 0 0 0 0 1 241
SMC1A 44 32 127 25 26 0 0 0 0 0 240
LRPPRC 8 41 158 11 28 0 0 0 0 1 239
MKS1 42 37 132 47 13 0 0 0 0 0 231
FKRP 28 11 133 48 11 0 0 0 0 0 229
KCNA1 12 1 142 41 58 0 0 0 0 1 228
NAGLU 44 60 109 41 14 0 0 0 0 0 225
CCBE1 6 0 152 20 47 0 0 0 0 5 224
WWOX 19 5 145 34 20 0 0 0 0 1 224
ATP7A 24 3 100 45 51 0 0 0 0 0 223
BBS2 42 44 119 30 22 0 0 0 0 0 223
SMAD4 7 0 154 15 49 0 0 0 0 1 223
LOC100507346, PTCH1 28 5 136 48 21 0 0 0 0 0 222
SPATA5 33 9 135 34 10 0 0 0 0 0 219
ERCC6 26 32 124 22 25 0 0 0 0 0 217
OFD1 139 10 37 4 29 0 0 0 0 0 217
OPA3 5 2 119 11 79 0 0 0 0 1 217
SLC12A6 13 33 121 20 32 0 0 0 0 1 216
SPG7 46 19 119 31 20 0 0 0 0 3 216
GLI2 14 7 91 57 61 0 0 0 0 0 214
POLR3A 42 16 103 24 40 0 0 0 0 1 212
TBC1D24 15 4 140 26 28 0 0 0 0 0 212
BBS9 26 4 130 32 40 0 0 0 0 0 211
MED12 11 6 114 43 38 0 0 0 0 0 211
SOS1 23 11 129 32 19 0 0 0 0 2 211
CYP27A1 73 34 85 41 20 0 0 0 0 1 207
SLC26A2 26 29 108 24 32 0 0 0 0 0 206
USH1C 19 34 122 21 18 0 0 0 0 0 205
PTPN11 68 26 80 21 39 0 0 0 0 6 203
ANKRD11 65 11 35 47 42 0 0 0 0 2 201
SKI 14 6 127 42 21 0 0 0 0 0 201
COL4A2 5 3 64 22 108 0 0 0 0 0 200
XPC 34 43 105 7 18 0 0 0 0 0 199
KIF7 17 4 128 27 42 0 0 0 0 0 198
BBS12 34 30 107 29 28 0 0 0 0 0 196
CARS2 3 1 140 36 15 0 0 0 0 1 196
INPP5E 22 4 126 21 33 0 0 0 0 0 193
TMEM67 57 50 92 12 17 0 0 0 0 0 193
COL4A1 19 7 70 61 89 0 0 0 0 1 192
AP3B1 15 0 142 27 26 0 0 0 0 0 191
POMT1 26 9 101 30 27 0 0 0 0 0 190
DYNC1H1 0 2 89 44 54 0 0 0 0 0 189
KRIT1 79 10 58 28 16 0 0 0 0 3 186
ASTN2, TRIM32 13 1 151 19 9 0 0 0 0 0 185
RAB3GAP2 7 4 125 37 21 0 0 0 0 1 185
MYO6 10 0 99 25 50 0 0 0 0 0 183
POMT2 21 4 122 22 15 0 0 0 0 3 183
DYRK1A 40 18 66 41 20 0 0 0 0 0 180
CEP41 5 1 135 22 20 0 0 0 0 0 179
QARS1 16 5 147 11 1 0 0 0 0 0 179
VANGL1 0 0 132 37 60 0 0 0 0 0 179
MCOLN1 39 26 70 55 11 0 0 0 0 0 178
COL2A1 39 11 70 25 32 0 0 0 0 0 177
SLC6A8 33 4 42 41 53 0 0 0 0 9 176
WDR62 22 10 109 13 29 0 0 0 0 0 175
KCNJ10 13 1 136 17 23 0 0 0 0 1 174
MYH3 5 3 52 18 100 0 0 0 0 0 174
ALX4 9 0 75 19 70 0 0 0 0 0 173
EYA1 42 5 66 21 45 0 0 0 0 0 173
ZNF423 1 2 111 33 30 0 0 0 0 0 173
PEX26 13 2 115 20 36 0 0 0 0 0 172
DIAPH1 8 2 114 31 17 0 0 0 0 0 171
COL11A1 5 4 101 34 24 0 0 0 0 1 169
PEX5 5 0 123 28 20 0 0 0 0 0 168
HRAS, LRRC56 18 9 94 44 7 0 0 0 0 0 167
DAG1 7 1 116 29 10 0 0 0 0 0 162
BBS1, ZDHHC24 31 26 83 23 14 0 0 0 0 1 161
TMEM237 9 5 111 32 13 0 0 0 0 0 161
LOC101927870, RELN 0 1 118 26 21 0 0 0 0 0 160
MT-ND2 6 1 62 42 51 0 0 0 0 0 160
SMARCA2 17 9 50 15 68 0 0 0 0 1 159
COL11A2 5 0 75 62 15 0 0 0 0 3 158
NDUFA10 4 0 124 22 29 0 0 0 0 0 158
SLC52A2 21 4 103 28 9 0 0 0 0 0 158
ATP6V0A2 11 1 95 9 42 0 0 0 0 0 157
CNTN2 1 0 105 33 19 0 0 0 0 0 156
FLVCR1 5 2 94 8 48 0 0 0 0 0 156
PEX2 14 7 90 27 23 0 0 0 0 0 156
CDK5RAP2 17 3 116 1 21 0 0 0 0 2 155
MT-CO1 0 1 86 20 47 0 0 0 0 0 154
SLC29A3 20 4 86 23 30 0 0 0 0 0 154
ARFGEF2 5 0 133 4 9 0 0 0 0 1 151
OPA1 29 7 62 16 40 0 0 0 0 2 151
SLC52A3 33 3 88 25 13 0 0 0 0 0 151
TCOF1 48 5 20 37 45 0 0 0 0 1 151
MCPH1 13 6 102 7 25 0 0 0 0 0 150
COL18A1 12 3 88 8 38 0 0 0 0 0 149
POMGNT2 6 2 101 29 11 0 0 0 0 0 149
ATR 5 3 105 8 28 0 0 0 0 0 147
CACNB4 1 0 87 5 57 0 0 0 0 0 147
CEP152 13 8 106 20 25 0 0 0 0 1 147
KCNQ1 18 4 80 22 19 0 0 0 0 4 147
SOS2 6 5 84 32 23 0 0 0 0 1 147
BBS4 27 12 75 15 28 0 0 0 0 0 145
DLD 21 25 59 32 27 0 0 0 0 0 145
SUMF1 28 18 63 18 30 0 0 0 0 0 144
MT-ND1 19 3 55 23 52 0 0 0 0 0 143
ENG, LOC102723566 62 9 47 24 10 0 0 0 0 0 141
MT-CO3 4 0 70 29 40 0 0 0 0 0 140
PEX12 18 31 75 16 13 0 0 0 0 0 140
AGA 23 45 67 17 15 0 0 0 0 0 139
ATCAY 1 0 93 17 28 0 0 0 0 0 139
MITF 19 13 64 13 41 0 0 0 0 0 139
PEX10 20 20 81 25 16 0 0 0 0 0 138
RFT1 8 1 101 14 22 0 0 0 0 0 138
SETBP1 9 1 59 56 13 0 0 0 0 0 138
UBA1 3 0 69 25 41 0 0 0 0 0 137
MOCS1 6 4 90 15 27 0 0 0 0 0 135
WDPCP 5 2 106 22 15 0 0 0 0 0 135
BIVM-ERCC5, ERCC5 17 3 79 18 26 0 0 0 0 0 134
COQ8A 28 13 69 13 22 0 0 0 0 0 133
HARS1 6 1 106 15 10 0 0 0 0 0 133
SMARCA4 8 8 37 6 74 0 0 0 0 0 133
TBX3 7 1 64 14 50 0 0 0 0 0 133
WHRN 4 0 100 6 24 0 0 0 0 0 133
PEX13 8 0 106 11 10 0 0 0 0 0 132
ROBO3 14 0 80 17 20 0 0 0 0 0 130
MEGF8 6 0 61 29 33 0 0 0 0 0 129
MKKS 23 3 82 9 18 0 0 0 0 0 129
ROR2 8 2 79 18 25 0 0 0 0 0 129
BRAF 37 42 42 20 13 0 0 0 0 10 128
BBS7 22 10 83 6 15 0 0 0 0 0 127
SPTBN2 6 9 67 38 19 0 0 0 0 2 126
ASXL1 18 3 50 39 15 0 0 0 0 0 125
PURA 33 15 34 44 2 0 0 0 0 0 125
CSPP1 32 4 68 11 10 0 0 0 0 0 124
CRPPA 26 7 62 15 13 0 0 0 0 0 123
MVK 17 8 75 19 13 0 0 0 0 0 123
CDH3 7 2 88 7 18 0 0 0 0 0 122
SALL1 28 3 43 36 27 0 0 0 0 0 122
BCOR 28 5 33 14 40 0 0 0 0 0 119
GATAD1, PEX1 18 29 70 12 8 0 0 0 0 1 119
RAB18 5 0 80 5 29 0 0 0 0 0 119
GNS 8 2 72 19 23 0 0 0 0 0 118
MTTP 12 3 61 16 31 0 0 0 0 0 118
NSD2 4 0 56 56 2 0 0 0 0 0 118
B3GLCT 6 1 71 15 34 0 0 0 0 0 117
SMC3 11 17 56 19 26 0 0 0 0 0 117
ADGRG1 20 3 66 8 20 0 0 0 0 0 116
HSD17B4 19 8 44 31 24 0 0 0 0 1 116
KRAS 20 12 49 36 2 0 0 0 0 2 116
VRK1 17 8 84 8 4 0 0 0 0 1 116
MT-ND4 6 1 54 20 38 0 0 0 0 1 115
TBX1 8 1 72 19 17 0 0 0 0 0 115
PAFAH1B1 89 19 4 0 2 0 0 0 0 1 114
PDHA1 46 11 22 11 28 0 0 0 0 0 114
VLDLR 6 1 88 17 16 0 0 0 0 0 114
KCNE1 6 1 61 17 26 0 0 0 0 0 110
LARGE1 5 1 73 9 21 0 0 0 0 0 109
NPHP3, NPHP3-ACAD11 4 1 88 11 5 0 0 0 0 0 109
NUBPL 8 2 87 4 10 0 0 0 0 1 109
SDCCAG8 11 6 74 16 11 0 0 0 0 0 109
SRCAP 7 0 47 52 2 0 0 0 0 0 108
ERCC2 17 4 71 8 8 0 0 0 0 0 106
EZH2 12 9 41 30 18 0 0 0 0 0 106
SLC25A22 6 3 81 2 15 0 0 0 0 0 106
FGF9 2 0 67 4 32 0 0 0 0 0 105
GJA1 24 3 56 8 21 0 0 0 0 0 105
KNL1 3 5 85 9 5 0 0 0 0 0 105
GJB2 34 3 31 25 28 0 0 0 0 0 104
GRIP1 2 0 73 20 10 0 0 0 0 0 104
IRF6 21 4 41 19 21 0 0 0 0 0 104
NDUFS1 10 7 66 17 17 0 0 0 0 1 104
RAF1 18 22 52 18 24 0 0 0 0 2 104
STIL 5 1 77 6 15 0 0 0 0 0 102
TFAP2B 9 1 39 31 23 0 0 0 0 0 102
GATA3 19 1 45 2 33 0 0 0 0 1 100
TCTN2 18 1 65 11 21 0 0 0 0 0 100
CLRN1 16 15 54 9 8 0 0 0 0 0 99
POMGNT1, TSPAN1 7 70 23 3 1 0 0 0 0 0 99
ARID1B 74 18 7 0 0 0 0 0 0 1 98
PEX14 2 1 66 19 20 0 0 0 0 0 98
SEMA3E 1 0 69 15 13 0 0 0 0 0 98
TWNK 13 9 64 11 29 0 0 0 0 0 98
B3GALNT2 14 10 59 18 4 0 0 0 0 0 97
XPA 16 37 39 5 4 0 0 0 0 0 97
ARL13B 8 1 69 20 6 0 0 0 0 0 96
ERCC8 17 19 49 4 13 0 0 0 0 0 96
RRM2B 12 3 49 6 26 0 0 0 0 0 96
TTPA 18 19 56 2 9 0 0 0 0 0 96
WNT5A 5 3 46 28 16 0 0 0 0 0 96
EARS2 10 3 48 11 22 0 0 0 0 3 95
MANBA 13 1 52 12