ClinVar Miner

Variants studied for congenital nervous system disorder

Included ClinVar conditions (1654):
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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 risk factor other not provided total
13448 5670 30663 10131 4999 1 18 5 261 62600

Gene and significance breakdown #

Total genes and gene combinations: 1478
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor other not provided total
NF1 815 279 1530 531 60 0 0 0 2 3117
ATM 378 200 1649 455 62 0 0 0 0 2613
ATM, C11orf65 233 145 992 243 24 0 0 0 2 1566
ALMS1 78 122 634 213 67 0 0 0 2 1101
PLEC 8 5 703 229 153 0 0 0 1 1099
PTCH1 109 18 560 263 55 0 0 0 1 966
SYNE1 34 10 500 271 142 0 0 0 1 852
COL4A5 771 34 26 4 19 0 0 0 1 849
VPS13B 75 280 310 84 53 0 0 0 4 722
KMT2D 160 136 212 128 34 0 0 0 2 617
USH2A 105 189 296 41 7 0 0 0 0 612
POLG 91 51 254 181 60 0 0 0 2 579
FBN2 14 16 350 156 85 0 0 0 0 561
CHD7 174 27 234 63 62 0 0 0 1 518
FLNA 50 23 208 77 92 0 0 0 3 446
SACS 36 206 180 19 7 1 0 0 2 439
MYO7A 53 107 199 68 11 0 0 0 1 418
NF2 54 14 231 92 26 0 0 0 0 408
FH 92 31 215 62 11 0 0 0 0 398
NIPBL 215 57 92 31 8 0 0 0 0 390
CNTNAP2 17 0 259 72 53 0 0 0 0 386
PCDH15 15 86 268 21 1 0 0 0 0 385
LYST 45 3 280 60 32 0 0 0 0 383
CACNA1A 63 11 197 47 54 0 0 0 23 381
FBXL4 27 32 320 1 7 0 0 0 0 381
ABCC6 352 4 3 1 19 0 0 0 2 375
NSD1 175 38 92 55 17 0 0 0 0 373
LOC107303340, VHL 100 32 172 56 13 0 0 0 0 357
NRXN1 11 2 257 57 27 0 1 0 0 333
MRE11 15 10 235 49 18 0 0 0 0 310
ZEB2 89 9 128 69 28 0 0 0 0 307
PCNT 33 3 188 51 34 0 0 0 1 306
COL4A4 21 70 159 37 22 0 0 0 0 303
FRAS1 15 2 181 64 44 0 3 0 0 302
VHL 75 24 160 48 7 0 0 0 0 299
EHMT1 27 8 162 73 41 0 0 0 0 289
RELN 8 0 171 56 49 0 0 0 1 280
SLC26A4 47 103 125 18 3 0 0 0 0 279
GATA2 15 5 169 73 15 0 0 0 0 269
ASPM 133 13 90 5 27 0 0 0 0 262
LRP2 17 2 174 40 24 0 0 0 3 259
CEP290 84 24 119 26 29 0 0 0 0 258
CBS 37 67 109 41 16 0 0 0 1 240
COL4A3, MFF-DT 33 76 102 24 20 0 0 0 0 239
FREM2 6 3 163 33 29 0 2 0 0 234
ACVRL1 98 23 73 35 14 0 0 0 2 233
GLI3 43 1 85 80 38 0 1 0 0 231
CPLANE1 65 12 120 40 36 0 0 0 0 230
ENG 80 19 89 40 14 0 0 0 0 230
TCF4 46 23 82 65 22 0 0 0 0 227
GLA, RPL36A-HNRNPH2 116 47 48 22 9 0 0 1 3 223
SNHG14, UBE3A 115 18 77 7 11 0 0 0 1 218
EP300 31 9 103 62 19 0 0 0 3 212
SUFU 15 5 133 47 10 0 0 0 0 210
TSC1 5 1 93 82 21 0 0 0 0 200
DHCR7 43 70 89 14 15 0 0 0 2 199
FKTN 15 23 143 20 11 0 0 0 0 199
OFD1 133 7 26 7 26 0 0 0 0 199
CDH23 15 6 148 30 0 0 0 0 2 197
JMJD1C 0 0 139 32 26 0 0 0 0 197
CDON 4 0 111 58 23 0 0 0 0 190
EPG5 30 13 107 16 31 0 0 0 0 190
SETX 18 3 112 28 27 0 0 0 0 188
CC2D2A 53 28 96 20 8 0 0 0 0 187
MAN2B1 24 52 103 15 10 0 0 0 0 183
MBD5 16 1 121 30 15 0 0 0 1 181
DOCK7 9 1 122 31 16 0 0 0 0 179
CREBBP 101 30 29 6 12 0 0 0 1 177
ITPR1 23 4 72 73 9 0 0 0 1 177
PIGO 14 5 132 17 13 0 0 0 1 174
ATRX 22 7 85 28 33 0 0 0 1 173
ERCC6 31 33 59 50 14 0 0 0 0 172
FREM1 4 1 103 43 23 0 0 0 0 172
LRPPRC 7 38 106 19 5 0 0 0 1 171
BBS10 43 65 64 10 7 0 0 0 0 169
LOC100507346, PTCH1 19 3 101 40 15 0 0 0 0 168
DNMT1 6 2 101 39 20 0 0 0 0 167
ERCC4 8 1 104 35 26 0 0 0 0 166
USH1C 14 32 100 23 2 0 0 0 0 166
IDUA 45 46 60 12 11 0 0 2 0 162
PTPN11 66 18 57 11 15 0 0 0 6 162
SKI 13 6 92 39 17 0 0 0 0 161
APOB 21 0 101 37 0 0 0 0 0 159
NAGLU 28 56 78 7 6 0 0 0 0 157
POLH 18 3 112 19 7 0 0 0 0 157
MED12 11 5 75 36 25 0 0 0 0 152
PIGN 22 12 89 19 12 0 0 0 0 152
SMC1A 33 27 63 32 10 0 0 0 0 152
KCNA1 15 1 71 42 20 0 0 0 1 149
SLC12A6 12 32 76 23 8 0 0 0 1 149
FKRP 22 6 83 25 12 0 0 0 0 146
AHI1 50 7 55 22 23 0 0 0 0 145
TMEM67 54 43 57 3 7 0 0 0 0 145
RPGRIP1L 35 10 79 14 12 0 0 0 0 143
SMAD4 7 0 82 47 8 0 0 0 1 143
WWOX 10 3 90 20 20 0 0 0 1 143
CCBE1 6 0 98 19 19 0 0 0 5 142
PEX1 22 70 50 4 7 0 0 0 0 142
PTCH2 2 1 81 34 25 0 0 0 0 142
SGSH 36 36 71 5 10 0 0 0 0 139
TBC1D24 14 3 99 20 3 0 0 0 0 139
CYP27A1 61 30 57 7 9 0 0 0 0 138
BBS2 29 36 65 21 10 0 0 0 0 136
XPC 28 40 62 5 5 0 0 0 0 136
COL4A1 17 2 41 47 26 0 0 0 1 134
COL4A2 3 1 40 58 32 0 0 0 0 134
GLI2 11 7 73 37 15 0 0 0 0 132
SETBP1 8 1 56 56 13 0 0 0 0 132
SOS1 21 10 71 21 12 0 0 0 2 130
HGSNAT 25 21 78 8 7 0 0 0 0 129
KIF7 16 3 74 16 31 0 0 0 0 127
ATP7A 16 2 58 23 25 0 0 0 0 124
HRAS, LRRC56 19 8 59 35 7 0 0 0 0 124
MKS1 32 32 62 10 4 0 0 0 0 124
POMT1 18 6 63 18 21 0 0 0 0 124
POMT2 17 4 77 11 14 0 0 0 3 124
PEX6 29 34 49 9 10 0 0 0 1 123
THRB 5 1 49 51 17 0 0 0 0 123
BBS12 22 27 57 20 22 0 0 0 0 122
ALX4 9 0 54 45 13 0 0 0 0 121
ASXL1 13 3 49 39 15 0 0 0 0 119
QARS1 10 3 65 28 12 0 0 0 0 118
SIK1 5 0 60 23 28 0 0 0 0 116
SMARCA4 7 6 43 44 16 0 0 0 0 116
SPG7 37 14 46 10 16 0 0 0 3 116
DYRK1A 37 14 40 19 8 0 0 0 0 115
EYA1 27 2 44 34 11 0 0 0 0 115
NSD2 1 0 56 56 2 0 0 0 0 115
RAB3GAP2 7 2 86 18 6 0 0 0 0 115
KCNJ10 11 1 87 12 6 0 0 0 1 114
SPTBN2 6 5 58 40 8 0 0 0 2 114
BBS9 24 3 49 27 25 0 0 0 0 112
KCNQ1 19 5 41 36 7 0 0 0 4 112
KRAS 19 10 48 36 0 0 0 0 1 112
MYH3 4 2 72 35 0 0 0 0 0 112
PAFAH1B1 89 17 4 0 2 0 0 0 1 112
CEP152 13 5 78 12 3 0 0 0 1 109
KRIT1 48 5 23 24 9 0 0 0 3 108
FLVCR1 4 0 66 10 29 0 0 0 0 107
SALL1 23 0 35 37 18 0 0 0 0 106
SPATA5 15 6 64 12 10 0 0 0 0 106
SRCAP 6 0 48 51 2 0 0 0 0 106
SLC29A3 18 2 59 18 19 0 0 0 0 105
SLC52A3 32 2 55 14 11 0 0 0 0 105
VANGL1 0 0 74 31 0 0 0 0 0 105
CACNB4 1 0 44 48 13 0 0 0 0 104
DAG1 4 1 71 19 9 0 0 0 0 104
SMARCA2 15 9 20 50 10 0 0 0 0 104
SLC52A2 19 4 59 16 7 0 0 0 0 103
TFAP2B 9 1 39 31 23 0 0 0 0 102
SLC6A8 25 1 26 20 29 0 0 0 1 101
BRAF 35 37 19 18 2 0 0 0 1 100
DIAPH1 4 2 61 20 14 0 0 0 0 100
COQ8A 23 11 48 12 10 0 0 0 0 99
ATR 5 3 71 14 5 0 0 0 0 98
DYNC1H1 0 2 69 27 0 0 0 0 0 98
ENG, LOC102723566 37 9 32 19 6 0 0 0 0 97
TBX3 7 0 40 36 16 0 0 0 0 97
TCOF1 35 4 15 23 21 0 0 0 1 97
BBS1, ZDHHC24 25 23 46 5 8 0 0 0 0 96
PEX26 9 2 55 23 9 0 0 0 0 96
WNT5A 5 3 46 29 16 0 0 0 0 96
ASTN2, TRIM32 4 1 80 9 3 0 0 0 0 95
ARFGEF2 3 0 80 10 1 0 0 0 1 94
POMGNT1, TSPAN1 7 67 23 2 0 0 0 0 0 94
AGA 16 42 39 4 6 0 0 0 0 93
INPP5E 19 3 40 23 20 0 0 0 0 93
ROBO3 14 0 65 9 6 0 0 0 0 93
CNTN2 1 0 63 13 15 0 0 0 0 92
PEX12 16 30 40 6 5 0 0 0 0 92
POMGNT2 4 1 63 14 10 0 0 0 0 92
SOS2 2 4 47 23 16 0 0 0 1 92
MOCS1 5 2 55 29 2 0 0 0 0 91
COL18A1 8 3 48 23 9 0 0 0 0 90
IRF6 13 4 36 18 19 0 0 0 0 90
MCOLN1 32 20 36 4 2 0 0 0 0 89
GOSR2, LRRC37A2 1 2 58 19 11 0 0 0 0 87
PRICKLE2 1 0 60 12 14 0 0 0 0 87
CEP41 4 0 65 13 6 0 0 0 0 86
ROR2 8 0 23 45 14 0 0 0 0 86
CARS2 3 0 47 21 13 0 0 0 1 85
DLD 14 20 39 6 11 0 0 0 0 85
BIVM-ERCC5, ERCC5 16 3 46 18 13 0 0 0 0 84
KCNE1 6 1 29 33 16 0 0 0 0 84
PEX2 12 7 54 8 6 0 0 0 0 84
CD96 2 0 41 29 11 0 0 0 0 83
MITF 16 10 34 21 4 0 0 0 0 83
MTTP 12 3 43 23 12 0 0 0 0 83
SMC3 10 13 39 22 10 0 0 0 0 83
XPA 13 37 30 4 2 0 0 0 0 83
CRPPA 24 6 34 6 12 0 0 0 0 82
SUMF1 25 7 35 9 11 0 0 0 0 82
BBS4 23 6 29 10 17 0 0 0 0 81
RAB18 5 0 54 13 9 0 0 0 0 81
MEGF8 6 0 36 15 21 0 0 0 0 78
TTC21B 0 0 59 14 5 0 0 0 0 78
GJB2 32 3 11 21 11 0 0 0 0 77
EZH2 11 8 28 21 15 0 0 0 0 76
FGF9 2 0 33 33 8 0 0 0 0 76
UBA1 3 0 40 20 19 0 0 0 0 76
WDR62 19 8 32 4 16 0 0 0 0 76
AP3B1 13 0 40 5 18 0 0 0 0 75
CDH3 6 1 54 4 10 0 0 0 0 75
PAX3 23 25 14 14 1 0 0 0 0 75
PCSK9 0 0 45 30 0 0 0 0 0 75
PEX5 3 0 62 7 4 0 0 0 0 75
ARID1B 56 15 5 0 0 0 0 0 0 74
BCOR 21 4 24 2 24 0 0 0 0 74
C1orf167, MTHFR 0 0 55 15 4 0 0 0 0 74
CENPJ 13 3 46 10 10 0 0 0 0 74
HARS1 1 1 59 8 8 0 0 0 0 74
IDUA, SLC26A1 11 7 16 33 7 0 0 2 0 74
ATCAY 1 0 52 16 4 0 0 0 0 73
LARGE1 5 1 49 16 2 0 0 0 0 73
MKKS 17 3 35 10 10 0 0 0 0 73
TYMP 48 1 22 0 3 0 0 0 0 73
ANKRD11 44 9 15 2 1 0 0 0 2 72
MVK 13 4 40 14 6 0 0 0 0 72
WHRN 4 0 54 14 0 0 0 0 0 72
CLRN1 12 13 34 11 4 0 0 0 0 71
GATA3 15 1 23 22 10 0 0 0 1 71
LOC101927870, RELN 0 0 45 11 15 0 0 0 0 71
NUBPL 1 2 55 9 4 0 0 0 1 71
ERCC8 16 17 31 6 4 0 0 0 0 70
GJA1 21 3 27 14 8 0 0 0 0 70
NPHP3, NPHP3-ACAD11 3 0 55 9 3 0 0 0 0 70
PEX10 12 18 37 4 3 0 0 0 0 70
ADGRV1 20 18 32 0 0 0 0 0 0 69
COL18A1, SLC19A1 7 1 40 13 11 0 0 0 0 69
GNS 6 0 46 11 7 0 0 0 0 69
RAF1 17 20 28 12 0 0 0 0 2 69
PDHX 11 2 29 11 15 0 0 0 1 68
SCARB2 1 0 46 15 6 0 0 0 0 68
TTPA 17 17 31 4 5 0 0 0 0 68
TMEM237 7 4 50 6 3 0 0 0 0 67
VLDLR 6 1 46 9 7 0 0 0 0 67
GRIP1 2 0 50 8 7 0 0 0 0 66
OCRL 21 3 8 1 3 0 0 0 32 66
POLR2F, SOX10 21 20 12 10 2 0 0 0 0 65
PRKCG 27 3 17 15 6 0 0 0 0 65
PURA 25 9 21 10 2 0 0 0 0 65
TWNK 12 5 23 21 5 0 0 0 0 65
BBS7 15 4 33 6 10 0 0 0 0 64
GATAD1, PEX1 10 22 36 1 0 0 0 0 1 64
KCTD7 0 0 49 9 6 0 0 0 0 64
NDUFA10 0 0 46 18 0 0 0 0 0 64
POR 10 0 45 7 3 0 0 0 0 64
SDHA 1 0 35 27 0 0 0 0 1 64
CDK5RAP2 15 2 29 0 19 0 0 0 2 63
MANBA 12 1 30 10 11 0 0 0 1 63
MCPH1 13 4 37 0 9 0 0 0 0 63
ANO10 11 3 38 12 4 0 0 0 0 62
RIPK4 0 0 38 14 10 0 0 0 0 62
TCTN2 16 0 31 8 17 0 0 0 0 62
WDPCP 2 0 47 11 7 0 0 0 0 62
SLC1A3 3 0 18 28 12 0 0 0 0 61
SOX9 13 3 24 13 8 0 0 0 0 61
​intergenic 29 8 19 0 4 0 0 0 1 60
B3GALNT2 12 9 32 10 4 0 0 0 0 60
ERCC2 17 5 31 3 4 0 0 0 1 60
GMPPB 12 5 33 8 3 0 0 0 0 60
PEX13 8 0 45 4 4 0 0 0 0 60
VRK1 13 6 41 1 4 0 0 0 1 60
ACTB 25 10 10 7 9 0 0 0 0 59
COQ4 13 5 31 7 5 0 0 0 0 59
EDN3 6 3 32 19 0 0 0 0 0 59
HADHB 10 3 34 6 10 0 0 0 0 59
ZNF423 1 0 24 11 25 0 0 0 0 59
ARL13B 7 1 40 9 3 0 0 0 0 58
SURF1 20 7 20 10 9 0 0 0 1 58
NRAS 8 0 35 13 0 0 0 0 1 57
PEX19 2 0 43 10 3 0 0 0 0 57
KIAA0586 20 4 11 4 17 0 0 0 0 56
SLC19A2 14 1 34 4 3 0 0 0 0 56
GPHN 6 4 27 13 6 0 0 0 0 55
HSD17B4 12 4 26 9 8 0 0 0 1 55
TMEM216 7 14 30 4 5 0 0 0 0 55
TTBK2 3 0 25 25 2 0 0 0 0 55
COX10 0 0 30 14 10 0 0 0 0 54
LIAS 5 1 37 5 6 0 0 0 0 53
PDHA1 36 8 9 0 0 0 0 0 0 53
TGM6 5 0 14 27 7 0 0 0 0 53
WFS1 29 6 17 0 0 0 0 0 2 53
POLR3A 42 16 6 0 0 0 0 0 0 52
SHH 34 3 7 2 8 0 0 0 0 52
TDP1 1 0 29 15 7 0 0 0 0 52
EDNRB 6 2 26 16 1 0 0 0 1 51
SLC9A6 12 3 17 9 12 0 0 0 0 51
ABCC9 8 3 29 10 0 0 0 0 0 50
ALDH18A1 9 4 24 5 8 0 0 0 1 50
PDYN 4 0 27 14 5 0 0 0 0 50
SUOX 10 3 36 3 1 0 0 0 0 50
TUBA1A 19 24 8 0 0 0 0 0 1 50
ATP6V1B1 3 2 27 11 11 0 0 0 0 49
PEX7 13 5 29 2 3 0 0 0 0 49
AAAS 12 3 28 6 1 0 0 0 0 48
PIGA 7 4 25 5 7 0 0 0 0 48
PMP22 19 1 16 13 1 0 0 0 1 48
SDCCAG8 7 4 30 3 6 0 0 0 0 48
SIX1 7 2 18 18 3 0 0 0 0 48
BBS1 12 22 11 6 3 0 0 0 1 47
CASK 34 9 4 0 0 0 0 0 0 47
DLAT 2 1 31 11 5 0 0 0 0 47
FGF14 3 0 20 21 5 0 0 0 0 47
GJB1 43 3 1 0 0 0 0 0 0 47
SLC26A2 14 26 8 0 3 0 0 0 0 47
AFG3L2 15 1 10 16 4 0 0 0 0 46
EPM2A 3 0 34 6 4 0 0 0 0 46
ERCC6, ERCC6-PGBD3 5 14 14 9 5 0 0 0 0 46
IDS 34 5 7 0 0 0 0 0 0 46
PEX16 5 1 30 7 4 0 0 0 1 46
RPS6KA3 30 8 8 1 0 0 0 0 0 46
RXYLT1 9 5 23 5 7 0 0 0 0 46
SUCLG1 7 1 32 4 2 0 0 0 0 46
ABHD12 10 3 19 6 8 0 0 0 0 45
KMT2A 31 10 3 1 0 0 0 0 0 45
MSX2 6 1 20 12 7 0 0 0 0 45
PDP1 2 0 38 2 3 0 0 0 0 45
SCO2, TYMP 29 2 4 4 10 0 0 0 0 45
SHOC2 2 1 18 20 5 0 0 0 1 45
SIL1 11 0 24 7 7 0 0 0 0 45
DNMT3A 14 8 13 0 8 0 0 0 2 44
ERCC3 8 0 29 7 0 0 0 0 0 44
KCND3 4 1 23 5 11 0 0 0 0 44
MEF2C 18 2 13 7 2 0 0 0 3 44
NDUFS1 1 2 28 13 0 0 0 0 0 44
POMK 7 0 21 11 6 0 0 0 0 44
CSPP1 24 2 12 2 4 0 0 0 0 43
DARS2 15 0 19 6 2 0 0 0 3 43
FOXH1 0 0 24 15 12 0 0 0 0 43
IDS, LOC106050102 33 6 1 1 4 0 0 0 0 43
MAF, WWOX 2 0 27 8 6 0 0 0 0 43
RAB3GAP1 20 0 17 4 2 0 0 0 0 43
USH1G 6 0 24 11 2 0 0 0 0 43
CENPJ, RNF17 6 2 24 3