ClinVar Miner

Variants studied for connective tissue disease

Included ClinVar conditions (1961):
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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 association protective risk factor other not provided total
18954 11250 63648 21705 14030 21 51 2 42 13 750 121572

Gene and significance breakdown #

Total genes and gene combinations: 1646
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association protective risk factor other not provided total
FBN1 996 787 929 339 119 0 0 0 0 0 5 2885
RECQL4 135 46 1578 555 87 0 0 0 0 0 0 2381
BRIP1 240 106 1518 414 51 0 0 0 0 0 0 2253
VPS13B 242 326 952 513 93 0 0 0 0 0 4 1926
ALMS1 240 165 896 564 97 0 0 0 0 0 2 1876
FANCA 521 174 719 349 65 0 0 0 0 0 0 1674
USH2A 288 401 691 104 95 0 0 0 0 0 0 1380
COL6A3 46 24 725 345 210 0 0 0 0 0 1 1231
NOTCH1 30 14 590 392 102 0 0 0 0 0 2 1092
CASR 62 47 665 256 31 0 0 0 0 0 0 1023
CEP290 232 81 462 286 44 0 0 0 0 0 0 983
CHD7 261 63 415 165 70 0 0 0 0 0 1 941
COL1A1 395 78 314 141 74 0 0 0 0 0 3 910
FANCM 59 11 612 154 31 0 0 0 0 0 0 865
SLX4 34 8 579 161 84 0 0 0 0 0 0 827
RAD51C 98 55 539 143 8 0 0 0 0 0 0 822
FLNA 50 11 391 274 123 0 0 0 0 0 1 821
COL6A2 75 46 418 256 112 0 0 0 0 0 4 782
MYO7A 83 184 472 60 47 0 0 0 0 0 2 778
ABCA4 292 340 217 6 2 0 0 0 0 1 5 715
CRB1 161 123 270 167 39 0 0 0 0 0 0 664
COL6A1 60 25 334 166 123 0 0 0 0 0 1 651
EVC 64 65 265 212 81 0 0 0 0 0 0 614
CDH23 29 24 452 56 70 0 0 0 0 0 2 595
DYNC2H1 150 143 323 98 86 0 0 0 0 0 0 589
COL1A2 139 87 222 102 54 0 0 0 0 0 3 578
CDKN1C 54 7 265 211 22 0 0 0 0 0 0 555
PCDH15 21 91 382 42 33 0 0 0 0 0 0 542
ADGRV1 44 43 365 34 67 0 0 0 0 0 0 538
EVC2 82 65 141 231 72 0 0 0 0 0 0 528
NIPBL 247 71 148 47 30 0 0 0 0 0 0 522
MEFV 35 14 342 116 41 0 0 0 0 0 169 515
PCNT 41 12 318 61 104 0 0 0 0 0 1 515
RPGRIP1L 78 19 256 147 28 0 0 0 0 0 0 498
GNPTAB 170 89 152 125 30 0 0 0 0 0 0 497
FANCI 39 10 337 89 40 0 0 0 0 0 0 484
EYS 97 107 258 45 46 0 0 0 0 0 0 483
MAN2B1 71 88 194 176 35 0 0 0 0 0 0 480
CC2D2A 76 47 295 99 28 0 0 0 0 0 0 475
GALC 91 115 177 124 43 0 0 0 0 3 0 474
RP1L1 11 13 149 63 246 0 0 0 1 0 1 474
ARSB 80 87 220 75 30 0 0 0 0 0 0 454
HSPG2 12 9 311 37 89 0 0 0 0 0 0 452
PIGO 30 11 317 89 16 0 0 0 0 0 1 445
NLRP12 10 2 304 92 72 0 0 0 0 0 2 441
NOD2 15 1 245 107 88 0 3 0 1 0 80 440
CLN3 54 96 203 119 12 0 0 0 0 0 0 436
AOPEP, FANCC 44 49 250 102 23 0 0 0 0 0 0 429
ARSA 112 97 170 89 37 0 0 0 0 1 2 429
IFT140 29 12 287 102 30 0 0 0 0 0 0 428
CEBPA 17 5 283 106 11 0 0 0 0 0 0 420
GUCY2D 83 75 196 67 16 0 0 0 0 0 0 417
HGSNAT 56 48 215 112 27 0 0 0 0 0 0 411
RMRP 38 140 234 18 10 0 0 0 0 0 0 411
IDUA 88 74 139 130 29 0 0 0 0 2 1 407
PEX6 57 46 171 137 31 0 0 0 0 0 1 404
CREBBP 205 64 73 27 45 0 0 0 0 0 1 403
RPGRIP1 81 40 223 67 26 0 0 0 0 0 0 397
GLI3 76 5 141 88 111 0 0 0 0 0 0 396
HMCN1 1 0 265 66 59 0 0 0 0 0 0 390
PLCG2 6 0 226 102 53 0 0 0 0 0 0 383
ABCC6 88 119 148 12 32 0 0 0 0 0 2 382
FKTN 33 25 243 77 24 0 0 0 0 0 0 380
LPIN2 15 5 262 78 49 0 0 0 0 0 8 379
DHCR7 77 97 153 100 29 0 0 0 0 0 2 372
PEX1 56 89 149 103 27 0 0 0 0 0 1 371
EXT1 222 11 94 25 21 0 0 0 0 0 0 366
LRP4 12 2 251 88 44 0 0 0 0 0 0 363
CEP164 10 5 240 78 24 0 0 0 0 0 0 356
BBS2 58 65 159 102 23 0 0 0 0 0 0 353
BBS10 73 77 160 76 17 0 0 0 0 0 0 352
ADAMTS17 5 0 227 30 89 0 0 0 0 0 0 349
NLRP3 17 6 152 71 57 0 0 0 0 0 98 349
SH3BP2 10 1 169 64 119 0 0 0 0 0 0 340
IFT172 21 9 233 66 15 0 0 0 0 0 0 338
FKRP 41 12 190 86 11 0 0 0 0 0 0 337
WDR19 35 24 220 75 22 0 0 0 0 0 0 336
SLC26A2 42 72 162 86 33 0 0 0 0 0 0 334
PLOD1 25 4 231 69 25 0 0 0 0 0 0 333
RPE65 79 57 145 92 19 0 0 0 0 0 0 333
NAGLU 59 70 134 110 14 0 0 0 0 0 0 332
ERCC4 15 7 224 62 41 0 0 0 0 0 0 328
IFIH1 30 7 210 61 30 0 0 0 0 0 1 328
SGSH 49 45 150 113 29 0 0 0 0 0 0 326
MKS1 43 40 170 101 13 0 0 0 0 0 0 321
MFSD8 44 24 180 74 20 0 0 0 0 0 0 320
ANO5 44 17 188 51 16 0 0 0 0 0 3 312
SMC1A 56 39 151 53 26 0 0 0 0 0 0 310
SMARCAL1 41 15 137 125 21 0 0 0 0 0 0 307
CLN6 37 30 168 77 20 0 0 0 0 0 0 303
RPGR 163 116 35 3 0 0 0 0 0 0 0 303
ATP13A2 18 8 193 79 39 0 0 0 0 0 2 301
FANCA, ZNF276 75 27 139 72 21 0 0 0 0 0 0 301
BBS9 34 6 184 57 40 0 0 0 0 0 0 299
ZNF423 1 2 185 83 30 0 0 0 0 0 0 297
FANCD2, LOC107303338 35 7 172 71 39 0 0 0 0 0 0 295
FANCG 63 13 137 95 8 0 0 0 0 0 0 294
GLB1 81 77 97 88 11 0 0 0 0 0 16 294
PPT1 41 90 127 42 17 0 0 0 0 0 1 294
ZNF469 6 3 199 55 28 0 0 0 0 0 2 291
BRCA2 41 1 152 68 28 0 0 0 0 0 1 288
FANCC 58 37 138 70 7 0 0 0 0 0 0 282
CRTAP 18 3 191 44 31 0 0 0 0 0 1 280
LRPPRC 8 42 189 24 29 0 0 0 0 0 1 279
BBS12 55 38 136 69 29 0 0 0 0 0 0 278
TPP1 35 51 145 36 27 0 0 0 0 0 25 278
SKI 14 7 160 86 22 0 0 0 0 0 0 277
COL2A1 92 35 85 43 33 0 0 0 0 0 1 276
CRX 43 23 151 53 72 0 0 0 0 0 0 276
MCOLN1 49 31 84 139 14 0 0 0 0 0 0 275
MT-ND5 3 2 112 48 104 0 0 0 0 0 0 268
KIF7 19 4 172 51 42 0 0 0 0 0 0 267
CNGB1 28 36 164 26 34 0 0 0 0 0 0 263
LIFR 8 4 178 27 54 0 0 0 0 0 0 260
TRIP11 26 7 157 30 52 0 0 0 0 0 0 259
SLC2A10 23 7 167 59 31 0 0 0 0 0 1 258
EXT2 95 2 94 48 40 0 0 0 0 0 1 257
PCARE 21 18 152 22 48 0 0 0 0 0 0 257
ASTN2, TRIM32 17 2 190 47 9 0 0 0 0 0 0 256
POMT1 31 14 136 51 28 0 0 0 0 0 0 256
TCIRG1 18 40 182 16 15 0 0 0 0 0 1 256
AP3B1 17 0 177 53 26 0 0 0 0 0 0 252
MT-CYB 1 0 121 36 94 0 0 0 0 0 0 252
POMT2 24 7 154 52 15 0 0 0 0 0 2 250
CHST3 19 1 170 37 33 0 0 0 0 0 0 249
WDR35 24 13 149 42 40 0 0 0 0 0 0 249
OFD1 141 12 53 16 29 0 0 0 0 0 0 248
VCAN 12 2 85 83 139 0 0 0 0 0 0 246
PEX5 10 0 173 52 20 0 0 0 0 0 0 245
BBS1, ZDHHC24 47 38 111 56 14 0 0 0 0 0 1 240
COL11A1 18 10 149 54 35 0 0 0 0 0 1 240
ERCC6 27 56 125 39 25 0 0 0 0 0 0 240
CTSD 7 2 153 75 19 0 0 0 0 0 0 239
USH1C 19 36 154 22 21 0 0 0 0 0 0 239
ADAR 18 11 150 60 10 0 0 0 0 0 0 238
LMX1B 33 6 114 14 71 0 0 0 0 0 0 238
MT-ATP6 11 4 85 47 92 0 0 0 0 0 0 238
PRPH2 60 77 93 28 42 0 0 0 0 0 1 235
FGFR1 28 10 119 47 55 0 0 0 0 0 0 234
IFT80, TRIM59-IFT80 16 10 167 44 17 0 0 0 0 0 0 233
OBSL1 14 5 145 21 46 0 0 0 0 0 0 231
RP1 45 55 106 21 21 0 0 0 0 0 0 231
PEX10 29 21 115 81 16 0 0 0 0 0 0 230
PSTPIP1 6 0 132 58 59 0 0 0 0 0 3 229
MVK 30 10 94 35 13 0 0 0 0 0 90 227
AIPL1 32 5 152 32 30 0 0 0 0 0 0 226
EP300 58 26 70 38 44 0 0 0 0 0 2 226
P3H1 18 8 135 47 27 0 0 0 0 0 1 223
RHO 67 74 82 16 21 0 0 0 0 0 1 223
SMAD4 7 0 154 15 49 0 0 0 0 0 1 223
CLN8 20 46 115 65 6 0 0 0 0 0 1 222
IMPG2 28 29 149 10 13 0 0 0 0 0 0 222
GALNS 66 31 97 21 27 0 0 0 0 0 0 221
OAT 53 45 84 50 13 0 0 0 0 0 0 220
TTC21B 11 14 145 38 38 0 0 0 0 0 0 220
ALPL 43 69 82 21 27 0 0 0 0 0 1 219
PDE6B 43 39 137 23 62 0 0 0 0 0 2 219
CSPP1 35 6 126 41 10 0 0 0 0 0 0 217
DAG1 8 1 155 44 10 0 0 0 0 0 0 217
WDPCP 9 6 158 46 15 0 0 0 0 0 0 216
KCTD7 13 8 145 39 21 2 0 0 0 0 0 215
POMGNT2 8 2 136 57 11 0 0 0 0 0 0 214
PSAP 14 6 103 101 21 0 0 0 0 0 0 214
SQSTM1 13 1 127 68 24 0 0 0 0 0 0 214
TNFRSF1A 18 6 101 34 14 0 0 0 0 0 85 214
PDE6A 31 19 137 12 26 0 0 0 0 0 0 213
SUMF1 38 27 73 66 30 0 0 0 0 0 0 212
DNAJC5 3 0 119 31 61 0 0 0 0 0 0 211
SH3PXD2B 6 1 132 23 50 0 0 0 0 0 0 211
LTBP2 2 0 164 14 31 0 0 0 0 0 0 210
CHST6 7 0 135 23 46 0 0 0 0 0 0 208
CEP41 7 1 152 33 19 0 0 0 0 0 0 207
FANCE 16 7 150 33 17 0 0 0 0 0 0 207
SAMHD1 50 11 100 57 14 0 0 0 0 0 0 204
BBS4 34 17 105 34 28 0 0 0 0 0 0 202
NSD1 58 16 74 24 31 0 0 0 0 0 0 202
NLRC4 4 1 137 44 16 0 0 0 0 0 0 201
PEX26 13 2 134 26 36 0 0 0 0 0 0 197
COL11A2 14 1 106 88 36 0 0 0 0 0 3 196
IFT140, LOC105371046 20 17 128 28 16 0 0 0 0 0 0 196
AHI1 52 17 100 15 17 0 0 0 0 0 0 195
CP 58 5 98 28 26 0 0 0 0 0 0 195
PEX7 28 44 84 52 12 0 0 0 0 0 1 194
GPR179 8 4 129 27 30 0 0 0 0 0 0 193
TMEM237 12 4 128 41 12 0 0 0 0 0 0 189
CLN5, FBXL3 36 44 97 28 14 0 0 0 0 0 0 188
PRPF31 46 64 61 8 13 0 0 0 0 0 0 188
TBX1 14 1 118 40 17 0 0 0 0 0 0 188
GNS 14 5 91 62 23 0 0 0 0 0 0 187
PEX2 17 9 108 42 23 0 0 0 0 0 0 186
PROM1 35 28 122 51 36 0 0 0 0 0 1 186
PROS1 27 12 115 28 16 0 0 0 1 0 0 185
TBX5 68 14 49 9 50 0 0 0 0 0 0 185
ALX4 14 0 79 19 70 0 0 0 2 0 0 184
CACNA2D4 5 1 111 19 53 0 0 0 0 0 0 184
CYP4V2 38 7 108 11 26 0 0 0 0 0 0 184
DPYD 14 59 106 11 11 0 0 0 0 0 1 184
AGPS 4 1 135 18 30 0 0 0 0 0 0 183
FANCF 14 1 124 28 24 0 0 0 0 0 0 183
TCOF1 67 7 25 42 45 0 0 0 0 0 1 182
FANCB 22 2 86 34 44 0 0 0 0 0 0 181
MPL 37 10 43 91 14 0 0 0 1 0 0 180
NEK1 22 13 105 36 29 0 0 0 0 0 0 180
NPHP4 5 4 119 19 33 0 0 0 0 0 0 180
ENPP1 6 1 96 18 59 0 0 0 0 0 2 179
PEX12 30 33 86 35 13 0 0 0 0 0 0 179
TRPM1 20 17 98 16 34 0 0 0 0 0 0 179
BBS7 29 16 110 18 15 0 0 0 0 0 0 178
AGA 28 45 81 40 15 0 0 0 0 0 0 177
HARS1 4 1 132 32 10 0 0 0 0 0 0 175
IL10RA 8 3 109 43 28 0 0 0 0 0 0 175
SPATA7 28 5 108 29 13 0 0 0 0 0 0 174
CLCN7 14 4 111 10 36 0 0 0 0 0 0 173
FERMT3 11 1 86 62 17 0 0 0 0 0 0 173
FGFR2 58 19 52 19 44 0 0 0 0 0 0 173
IRF6 40 10 74 6 43 0 0 0 0 0 4 173
ANKH, OTULIN 0 0 95 8 68 0 0 0 0 0 0 171
SDCCAG8 18 10 111 30 11 0 0 0 0 0 0 171
PDE4D 11 2 87 14 56 0 0 0 0 0 0 170
TMEM67 27 38 94 23 14 0 0 0 0 0 0 170
NR2E3 22 21 103 35 16 0 0 0 0 0 0 169
ALDH3A2 30 59 69 11 14 0 0 0 0 0 1 168
ANTXR2 14 7 103 15 29 0 0 0 0 0 0 167
MKKS 28 7 101 22 18 0 0 0 0 0 0 166
RD3 5 0 129 20 17 0 0 0 0 0 0 166
LCA5 23 8 117 12 11 0 0 0 0 0 0 164
ATP6V0A2 13 1 99 9 42 0 0 0 0 0 0 163
BEST1 64 54 51 12 13 0 0 0 0 0 0 163
CUL7 15 9 104 6 30 0 0 0 0 0 0 163
PRPF8 16 10 89 20 30 0 0 0 0 0 0 163
BPNT2 4 0 118 17 23 0 0 0 0 0 0 162
CDHR1 10 11 128 11 6 0 0 0 0 0 0 161
MEGF8 7 2 80 40 33 0 0 0 0 0 0 161
PITPNM3 2 0 86 17 59 0 0 0 0 0 0 160
ROR2 21 19 80 27 63 0 0 0 0 0 1 160
VCP 9 4 83 40 26 0 0 0 0 0 0 160
BMPR1B 10 2 84 17 51 0 0 0 0 0 1 159
CRPPA 30 8 84 25 13 0 0 0 0 0 0 159
TMPO 0 0 107 35 17 0 0 0 0 0 0 159
COL18A1 12 11 89 8 38 0 0 0 0 0 0 158
ADA2 29 7 95 29 5 0 0 0 0 0 0 157
MT-ND2 2 1 61 42 51 0 0 0 0 0 0 157
PEX13 8 1 127 14 10 0 0 0 0 0 0 156
VDR 17 0 112 11 16 0 0 0 0 0 0 156
ATR 6 4 111 8 28 0 0 0 0 0 0 155
GATAD1, PEX1 22 31 85 33 8 0 0 0 0 0 1 155
GNPTG 25 21 98 15 4 0 0 0 0 0 0 155
TRPV4 46 2 39 12 59 0 0 0 0 0 0 155
MT-CO1 0 1 86 20 47 0 0 0 0 0 0 154
NDUFA10 0 0 115 11 29 0 0 0 0 0 0 154
RIMS1 4 1 77 21 52 0 0 0 0 0 0 153
PROC 42 15 70 30 14 0 0 0 0 0 0 151
IDS 76 20 13 29 14 6 0 0 0 0 0 149
NECTIN1 3 1 130 9 6 0 0 0 0 0 0 149
ARID1B 84 32 32 1 0 0 0 0 0 0 1 147
ATRIP, ATRIP-TREX1, TREX1 33 14 81 25 14 0 0 0 0 0 0 147
ADAMTSL2 10 0 117 7 16 0 0 0 0 0 0 146
BBS1 42 30 53 36 4 0 0 0 0 0 1 146
PHEX 101 17 17 5 10 0 0 0 0 0 0 146
TGFBR2 20 4 81 36 14 0 0 0 0 0 0 146
PTPN11 43 5 65 6 28 0 0 0 0 0 0 145
SNRNP200 10 12 94 21 17 0 0 0 0 0 0 145
ASAH1 20 22 69 7 27 0 0 0 0 0 1 144
POMGNT1, TSPAN1 16 72 52 12 7 0 0 0 0 0 0 144
SMARCA4 9 9 49 6 74 0 0 0 0 0 0 144
TTC8 9 9 109 27 12 0 0 0 0 0 0 144
IFT122 10 5 90 25 27 0 0 0 0 0 0 143
TRPS1 74 10 32 18 10 0 0 0 0 0 0 142
FGFR3 49 5 39 24 31 0 0 0 0 0 1 141
SEMA3E 1 0 91 36 13 0 0 0 0 0 0 141
IDS, LOC106050102 67 19 10 25 25 7 0 0 0 0 0 140
MT-CO3 2 0 69 29 40 0 0 0 0 0 0 140
RBP3 4 6 119 5 9 0 0 0 0 0 0 140
MERTK 24 29 71 7 14 0 0 0 0 0 0 138
RDH12 40 31 45 35 5 0 0 0 0 0 0 138
TP63 35 2 50 9 42 0 0 0 0 0 0 138
WHRN 4 1 102 8 24 0 0 0 0 0 0 138
SERPINC1 55 25 47 20 7 0 0 0 0 0 0 136
TBX3 8 1 66 14 50 0 0 0 0 0 0 136
TGFB2 24 8 67 33 8 0 0 0 0 0 0 136
B3GALNT2 16 11 83 29 4 0 0 0 0 0 0 135
PANK2 39 10 67 20 11 0 0 0 0 0 0 135
DHDDS 5 4 82 41 8 0 0 0 0 0 0 134
FAM161A 13 7 96 14 14 0 0 0 0 0 0 134
GPC6 6 0 90 7 31 0 0 0 0 0 0 134
KCNV2 23 18 66 14 20 0 0 0 0 0 0 134
MT-ND1 5 0 54 23 52 0 0 0 0 0 0 133
RBCK1 19 2 87 24 3 0 0 0 0 0 0 133
ADAMTS10 8 0 90 14 19 0 0 0 0 0 0 131
PEX19 2 3 93 22 21 0 0 0 0 0 0 131
BIVM-ERCC5, ERCC5 16 2 79 16 27 0 0 0 0 0 0 130
FZD4, PRSS23 8 3 68 6 45 0 0 0 0 0 0 130
RIPK4 6 0 78 16 29 0 0 0 0 0 0 129
GUSB 26 5 65 25 17 0 0 0 0 1 0 128
SYN3, TIMP3 6 0 77 5 40 0 0 0 0 0 0 128
CDH3 8 5 89