ClinVar Miner

Variants studied for connective tissue disease

Included ClinVar conditions (1737):
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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
11491 6739 26226 9008 4839 5 36 2 45 12 700 56106

Gene and significance breakdown #

Total genes and gene combinations: 1307
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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 621 678 612 207 65 0 0 0 0 0 3 2006
BRIP1 127 75 903 256 24 0 0 0 0 0 0 1335
RECQL4 63 29 840 247 64 0 0 0 0 0 0 1237
ALMS1 78 124 634 213 67 0 0 0 0 0 2 1103
VPS13B 75 281 310 84 53 0 0 0 0 0 4 723
USH2A 120 245 337 42 7 0 0 0 0 0 0 698
NOTCH1 24 10 342 202 90 0 0 0 0 0 2 649
FANCA 106 108 270 91 34 0 0 0 0 0 0 558
COL1A1 258 49 179 63 37 0 0 0 0 0 2 551
COL6A3 24 15 325 97 89 0 0 0 0 0 0 548
CASR 41 28 328 101 25 0 0 0 0 0 1 503
RAD51C 61 34 335 78 8 0 0 0 0 0 0 503
SLX4 14 3 280 111 54 0 0 0 0 0 0 429
MYO7A 53 111 203 68 11 0 0 0 0 0 1 424
FLNA 27 5 206 110 92 0 0 0 0 0 1 420
COL6A2 36 19 215 123 49 0 0 0 0 0 2 407
DYNC2H1 140 25 181 36 51 0 0 0 0 0 0 389
NIPBL 214 57 92 31 8 0 0 0 0 0 0 389
PCDH15 14 89 268 21 1 0 0 0 0 0 0 385
ABCC6 352 4 3 1 19 0 0 0 0 0 2 375
COL12A1 12 5 245 53 43 0 0 0 0 0 0 355
NPC1 69 113 125 40 31 0 0 0 0 0 1 324
ABCA4 138 170 47 2 0 0 0 0 0 1 5 317
ARSB 48 82 160 18 15 0 0 0 0 0 0 310
MEFV 32 11 101 33 26 0 0 0 0 0 168 299
COL6A1 30 18 138 55 49 0 0 0 0 0 0 284
FANCM 0 0 234 38 32 0 0 0 1 0 0 284
EVC 26 42 96 77 56 0 0 0 0 0 0 278
RP1L1 1 4 89 127 56 0 0 0 1 0 1 277
CEP290 89 31 124 26 29 0 0 0 0 0 0 274
ZNF469 4 0 187 53 27 0 0 0 0 0 2 272
COL1A2 92 47 86 39 20 0 0 0 0 0 2 270
HSPG2 10 1 194 38 18 0 0 0 0 0 0 261
AOPEP, FANCC 16 38 158 52 13 0 0 0 0 0 0 260
FANCI 13 5 171 46 34 0 0 0 0 0 0 249
GLI3 59 2 86 81 38 0 0 0 0 0 0 246
NOD2 13 0 109 65 25 0 0 0 4 0 80 243
GNPTAB 129 46 58 11 6 0 0 0 0 0 0 232
GALC 36 84 92 18 27 0 0 0 0 3 0 230
RMRP 27 78 121 9 2 0 0 0 0 0 0 229
SH3BP2 7 0 100 82 47 0 0 0 0 0 0 226
ARSA 52 64 101 18 13 0 0 0 0 1 0 220
PLOD1 20 4 146 47 13 0 0 0 0 0 0 213
ADAMTS17 5 0 135 31 41 0 0 0 0 0 0 211
EP300 31 10 102 62 19 0 0 0 0 0 2 211
NLRP3 11 1 65 44 26 0 0 0 0 0 98 207
CDH23 19 9 151 30 0 0 0 0 0 0 2 206
NLRP12 14 1 121 52 33 0 0 0 0 0 1 204
EVC2 40 48 93 14 33 0 0 0 0 0 0 200
TPP1 31 48 81 21 19 0 0 0 0 0 25 200
CEBPA 15 2 140 32 10 0 0 0 0 0 0 199
OFD1 131 7 28 7 26 0 0 0 0 0 0 199
TRPS1 58 3 50 62 29 0 0 0 0 0 0 199
DHCR7 43 70 89 14 15 0 0 0 0 0 2 198
FKTN 12 23 143 20 11 0 0 0 0 0 0 197
BRCA2 37 0 65 77 17 0 0 0 0 0 1 196
LPIN2 7 2 141 33 19 0 0 0 0 0 8 191
SLC26A2 20 64 90 17 10 0 0 0 0 0 0 189
LRP4 12 0 127 33 29 0 0 0 0 0 0 186
CC2D2A 51 28 96 20 8 0 0 0 0 0 0 185
CLN3 24 83 69 16 8 0 0 0 0 0 0 183
MAN2B1 24 52 103 15 10 0 0 0 0 0 0 183
CREBBP 100 32 29 6 12 0 0 0 0 0 1 178
PIGO 14 5 132 17 13 0 0 0 0 0 1 174
ERCC6 30 33 59 50 14 0 0 0 0 0 0 171
LRPPRC 7 38 106 19 5 0 0 0 0 0 1 171
BBS10 44 66 64 10 7 0 0 0 0 0 0 170
SLC2A10 22 2 114 33 18 0 0 0 0 0 0 170
USH1C 14 32 100 23 2 0 0 0 0 0 0 166
CHST3 17 1 96 33 20 0 0 0 0 0 0 165
VCAN 11 0 43 71 41 0 0 0 0 0 0 164
IDUA 45 46 60 12 11 0 0 0 0 2 0 162
SKI 13 6 92 39 17 0 0 0 0 0 0 161
GLB1 44 54 69 10 3 0 0 0 0 0 7 159
ALPL 32 59 52 22 10 0 0 0 0 0 1 158
COL11A1 11 5 53 70 20 0 0 0 0 0 0 158
LMX1B 21 2 63 35 36 0 0 0 0 0 0 157
NAGLU 28 56 78 7 6 0 0 0 0 0 0 157
ATP13A2 14 3 110 20 21 0 0 0 0 0 2 156
SMC1A 32 27 63 32 10 0 0 0 0 0 0 151
PPT1 21 85 47 7 2 0 0 0 0 0 1 149
ANO5 25 8 91 9 12 0 0 0 0 0 3 146
FKRP 22 6 83 25 12 0 0 0 0 0 0 146
TRIP11 20 2 87 31 9 0 0 0 0 0 0 145
WDR35 24 9 89 24 9 0 0 0 0 0 0 145
TBX5 62 12 28 33 12 0 0 0 0 0 0 144
MVK 16 4 40 14 6 0 0 0 0 0 90 143
SMAD4 7 0 82 47 8 0 0 0 0 0 1 143
COL11A2 10 0 34 84 15 0 0 0 0 0 2 142
FANCC 23 26 80 22 5 0 0 0 0 0 0 141
PEX1 19 71 50 4 7 0 0 0 0 0 1 140
LIFR 7 2 100 14 17 0 0 0 0 0 0 139
SGSH 36 36 71 5 10 0 0 0 0 0 0 139
BBS2 32 37 65 21 10 0 0 0 0 0 0 137
EYS 37 55 37 10 8 0 0 0 0 0 0 137
PLCG2 4 0 85 12 35 0 0 0 0 0 0 135
TCIRG1 15 33 84 5 2 0 0 0 0 0 1 133
ARHGAP31 3 0 45 59 25 0 0 0 0 0 0 132
HGSNAT 27 23 78 8 7 0 0 0 0 0 0 131
CRX 15 11 40 40 26 0 0 0 0 0 0 130
DPYD 9 54 58 13 3 0 0 0 0 0 1 130
ALX4 13 0 56 45 13 0 0 0 2 0 0 129
CHST6 7 0 91 16 18 0 0 0 0 0 0 129
FGFR2 55 14 23 30 12 0 0 0 0 0 0 129
CP 55 4 54 14 11 0 0 0 0 0 0 127
CACNA2D4 3 1 85 29 12 0 0 0 0 0 0 126
KIF7 17 2 73 16 31 0 0 0 0 0 0 126
PCNT 33 3 66 7 17 0 0 0 0 0 1 125
SH3PXD2B 6 1 76 24 19 0 0 0 0 0 0 125
FANCD2, LOC107303338 9 3 64 34 30 0 0 0 0 0 0 124
POMT1 18 6 63 18 21 0 0 0 0 0 0 124
TGFBR2 19 2 55 37 12 0 0 0 0 0 0 124
BBS12 22 28 57 20 22 0 0 0 0 0 0 123
POMT2 17 3 77 11 14 0 0 0 0 0 3 123
RPGRIP1L 19 5 79 14 12 0 0 0 0 0 0 123
CYP4V2 34 1 62 15 13 0 0 0 0 0 0 122
TTC21B 10 6 77 18 24 0 0 0 0 0 0 122
CRB1 33 30 33 27 7 0 0 0 0 0 0 121
OBSL1 8 3 81 12 17 0 0 0 0 0 0 121
CLN6 28 16 62 12 12 0 0 0 0 0 0 120
TNFRSF1A 17 4 26 3 4 0 0 0 0 0 85 118
FANCA, ZNF276 6 20 63 27 9 0 0 0 0 0 0 117
FANCG 19 3 69 21 7 0 0 0 0 0 0 117
PEX6 21 33 49 9 10 0 0 0 0 0 1 117
SMARCA4 7 7 44 44 16 0 0 0 0 0 0 117
COL2A1 72 15 10 21 0 0 0 0 0 0 1 116
TRPV4 46 1 20 40 10 0 0 0 0 0 0 116
ALDH3A2 25 47 39 9 3 0 0 0 0 0 1 115
BBS9 24 4 49 27 25 0 0 0 0 0 0 113
MKS1 22 29 62 10 4 0 0 0 0 0 0 113
AGPS 4 0 88 13 8 0 0 0 0 0 0 112
ANKH, OTULIN 0 0 42 54 16 0 0 0 0 0 0 112
IFT140 16 2 73 17 18 0 0 0 0 0 0 112
GALNS 34 11 47 13 12 0 0 0 0 0 0 110
PDE4D 11 0 41 32 26 0 0 0 0 0 0 110
FANCE 4 0 79 18 13 0 0 0 0 0 0 108
P3H1 14 4 57 17 17 0 0 0 0 0 0 108
SALL1 23 0 35 37 18 0 0 0 0 0 0 106
CLN8 13 38 44 18 4 0 0 0 0 0 1 105
DAG1 4 1 71 19 9 0 0 0 0 0 0 104
FANCF 5 2 71 19 16 0 0 0 0 0 0 104
FGFR3 45 3 25 9 24 0 0 0 0 0 1 104
CTSD 7 1 49 39 14 0 0 0 0 0 0 103
PTPN11 40 3 52 8 0 0 0 0 0 0 0 103
OAT 37 36 27 5 5 0 0 0 0 0 0 102
CLN5, FBXL3 23 41 43 3 5 0 0 0 0 0 0 101
FGFR1 10 6 39 42 13 0 0 0 0 0 0 101
IFIH1 11 5 60 12 15 0 0 0 0 0 0 101
TMEM67 18 34 52 3 7 0 0 0 0 0 0 101
VDR 17 0 70 11 3 0 0 0 0 0 0 101
CLCN7 10 2 59 21 9 0 0 0 0 0 0 99
LTBP2 2 0 88 9 0 0 0 0 0 0 0 99
NEK1 18 2 57 14 18 0 0 0 0 0 0 99
ATR 5 3 71 14 5 0 0 0 0 0 0 98
BBS1, ZDHHC24 25 25 47 5 8 0 0 0 0 0 0 98
PHEX 75 5 10 8 1 0 0 0 0 0 0 98
POMGNT1, TSPAN1 12 67 22 3 0 0 0 0 0 0 0 98
MFSD8 19 5 55 12 10 0 0 0 0 0 0 97
SERPINC1 50 21 24 11 3 0 0 0 0 0 0 97
SMARCAL1 16 3 61 15 14 0 0 0 0 0 0 97
TBX3 7 0 40 36 16 0 0 0 0 0 0 97
TCOF1 35 4 15 23 21 0 0 0 0 0 1 97
AIPL1 11 2 49 35 4 0 0 0 0 0 0 96
PEX26 9 2 55 23 9 0 0 0 0 0 0 96
WNT5A 5 3 46 29 16 0 0 0 0 0 0 96
ASTN2, TRIM32 4 1 80 9 3 0 0 0 0 0 0 95
CPLANE1 23 5 30 5 32 0 0 0 0 0 0 95
TP63 29 2 26 30 8 0 0 0 0 0 0 95
COL18A1 8 7 48 23 9 0 0 0 0 0 0 94
GNPTG 24 19 50 2 0 0 0 0 0 0 0 94
PSTPIP1 6 0 46 34 26 0 0 0 0 0 3 94
SYN3, TIMP3 5 0 42 37 10 0 0 0 0 0 0 94
AGA 16 42 39 4 6 0 0 0 0 0 0 93
AIP 14 49 13 24 5 0 0 0 0 0 0 93
BMPR1B 10 1 32 36 15 0 0 0 0 0 1 93
EXT1 76 8 6 2 2 0 0 0 0 0 0 93
FANCB 22 2 39 7 23 0 0 0 0 0 0 93
FZD4, PRSS23 8 0 40 42 3 0 0 0 0 0 0 93
RD3 5 0 78 8 2 0 0 0 0 0 0 93
ROR2 15 0 23 45 14 0 0 0 0 0 1 93
PEX12 16 30 40 6 5 0 0 0 0 0 0 92
POMGNT2 4 1 63 14 10 0 0 0 0 0 0 92
PRPH2 29 7 33 22 0 0 0 0 0 0 1 92
BEST1 38 25 19 9 7 0 0 0 0 0 0 91
CUL7 9 5 65 8 4 0 0 0 0 0 0 91
PROS1 15 3 61 10 10 0 0 0 1 0 0 91
GPC6 6 0 61 13 10 0 0 0 0 0 0 90
PROC 32 10 36 16 8 0 0 0 0 0 0 90
WDR19 22 2 56 7 9 0 0 0 0 0 0 90
MCOLN1 32 20 36 4 2 0 0 0 0 0 0 89
PEX7 17 32 42 3 3 0 0 0 0 0 0 89
RPGRIP1 26 16 33 10 9 0 0 0 0 0 0 88
SQSTM1 4 1 56 22 16 0 0 0 0 0 0 87
MTAP 2 0 27 38 19 0 0 0 0 0 0 86
PEX2 12 7 54 8 6 0 0 0 0 0 0 84
CD96 2 0 41 29 11 0 0 0 0 0 0 83
ERCC4 12 1 41 18 13 0 0 0 0 0 0 83
SMC3 10 13 39 22 10 0 0 0 0 0 0 83
CRPPA 24 6 34 6 12 0 0 0 0 0 0 82
ESCO2 28 2 42 6 6 0 0 0 0 0 0 82
MPL 13 4 30 34 10 0 0 0 1 0 0 82
BBS4 23 6 29 10 17 0 0 0 0 0 0 81
SUMF1 24 7 35 9 11 0 0 0 0 0 0 81
BMPER 5 1 49 15 9 0 0 0 0 0 0 79
CANT1 16 3 47 7 6 0 0 0 0 0 0 78
IFT122 8 1 54 9 13 0 0 0 0 0 0 78
MEGF8 6 0 36 15 21 0 0 0 0 0 0 78
NR2E3 10 11 45 16 1 0 0 0 0 0 0 78
CDH3 6 2 55 4 10 0 0 0 0 0 0 77
TMPO 0 0 48 15 14 0 0 0 0 0 0 77
FGF9 2 0 33 33 8 0 0 0 0 0 0 76
PEX5 4 0 62 7 4 0 0 0 0 0 0 76
AP3B1 13 0 40 5 18 0 0 0 0 0 0 75
ARID1B 58 14 4 0 0 0 0 0 0 0 0 75
CLRN1 14 16 34 11 4 0 0 0 0 0 0 75
WHRN 4 1 56 14 0 0 0 0 0 0 0 75
ADAMTSL2 9 0 47 12 8 0 0 0 0 0 0 74
HARS1 1 1 59 8 8 0 0 0 0 0 0 74
IDUA, SLC26A1 11 7 16 33 7 0 0 0 0 2 0 74
LARGE1 5 1 49 16 2 0 0 0 0 0 0 73
MKKS 17 3 35 10 10 0 0 0 0 0 0 73
PALB2 15 0 31 23 3 0 0 0 0 0 1 73
PANK2 28 3 29 9 4 0 0 0 0 0 0 73
TP53 9 63 4 0 0 0 0 0 0 0 0 73
ADGRV1 20 21 32 0 0 0 0 0 0 0 0 72
GJA1 23 3 27 14 8 0 0 0 0 0 0 72
RPGR 45 24 4 0 0 0 0 0 0 0 0 72
RUNX2 13 0 26 26 8 0 0 0 0 0 0 72
NPHP3, NPHP3-ACAD11 3 0 56 9 3 0 0 0 0 0 0 71
OSTM1 4 0 41 17 9 0 0 0 0 0 0 71
PSAP 10 2 28 30 2 0 0 0 0 0 0 71
RHO 50 15 9 0 0 0 0 0 0 0 1 71
TGFB2 9 3 37 17 7 0 0 0 0 0 0 71
ATRIP, ATRIP-TREX1, TREX1 25 5 28 10 9 0 0 0 0 0 0 70
COL10A1, NT5DC1 15 0 20 29 6 0 0 0 0 0 0 70
COL18A1, SLC19A1 7 3 40 13 11 0 0 0 0 0 0 70
ERCC8 16 17 31 6 4 0 0 0 0 0 0 70
IFT80, TRIM59-IFT80 9 1 53 6 8 0 0 0 0 0 0 70
MESP2 7 12 36 11 7 0 0 0 0 0 0 70
PEX10 12 18 37 4 3 0 0 0 0 0 0 70
RPE65 24 13 25 13 4 0 0 0 0 0 0 70
CEP152 6 1 48 12 3 0 0 0 0 0 1 69
GNS 6 0 46 11 7 0 0 0 0 0 0 69
SAMHD1 30 2 33 9 1 0 0 0 0 0 0 69
ADAR 14 10 41 7 7 0 0 0 0 0 0 68
COMP 29 2 20 17 1 0 0 0 0 0 0 68
DHCR24 6 1 48 7 7 0 0 0 0 0 0 68
ELP4, PAX6 1 0 31 24 12 0 0 0 0 0 0 68
BBS7 15 6 33 6 10 0 0 0 0 0 0 66
CFH 5 0 15 32 11 0 0 0 6 0 0 66
NLRC4 3 1 48 6 9 0 0 0 0 0 0 66
LCA5 7 1 52 4 2 0 0 0 0 0 0 65
FBN2 2 1 23 40 0 0 0 0 0 0 0 64
NDUFA10 0 0 46 18 0 0 0 0 0 0 0 64
PHEX, PTCHD1 46 7 6 4 2 0 0 0 0 0 0 64
POR 10 0 45 7 3 0 0 0 0 0 0 64
SDHA 1 0 35 27 0 0 0 0 0 0 1 64
ADA2 20 2 34 7 4 0 0 0 0 0 0 63
ASAH1 8 2 30 12 12 0 0 0 0 0 1 63
GATAD1, PEX1 8 22 36 1 0 0 0 0 0 0 1 63
MANBA 12 1 30 10 11 0 0 0 0 0 1 63
ADAMTS10 8 0 38 13 3 0 0 0 0 0 0 62
AHI1 44 9 9 1 3 0 0 0 0 0 0 62
CRTAP 13 3 27 13 8 0 0 0 0 0 0 62
LMNA 26 0 21 11 4 0 0 0 0 0 2 62
NOTCH2 15 2 20 8 18 0 0 0 0 0 0 62
WDPCP 2 0 47 11 7 0 0 0 0 0 0 62
LEMD3 7 1 32 20 1 0 0 0 0 0 0 61
SOX9 13 3 24 13 8 0 0 0 0 0 0 61
B3GALNT2 12 9 32 10 4 0 0 0 0 0 0 60
CENPJ 8 2 36 10 4 0 0 0 0 0 0 60
GDF6 9 0 23 28 5 0 0 0 0 0 0 60
KCTD7 8 7 30 16 2 0 0 0 0 0 0 60
LBR 12 1 37 6 5 0 0 0 0 0 0 60
PEX13 8 0 45 4 4 0 0 0 0 0 0 60
ZNF423 1 1 24 11 25 0 0 0 0 0 0 60
DHODH 9 1 39 7 5 0 0 0 0 0 0 59
RP1 18 30 12 0 0 0 0 0 0 0 0 59
LRAT 3 4 44 7 0 0 0 0 0 0 0 58
SKIV2L 4 2 43 7 3 0 0 0 0 0 0 58
IFT140, LOC105371046 12 3 30 9 12 0 0 0 0 0 0 57
IL10RA 4 0 29 11 16 0 0 0 0 0 0 57
KCNV2 12 3 26 11 5 0 0 0 0 0 0 57
PEX19 2 0 43 10 3 0 0 0 0 0 0 57
CTSK 8 32 19 0 0 0 0 0 0 0 0 56
GNPAT 9 1 39 6 2 0 0 0 0 0 0 56
MAFB 6 0 29 17 4 0 0 0 0 0 0 56
RNASEH2A 13 2 31 13 7 0 0 0 0 0 0 56
SURF1 18 7 20 10 9 0 0 0 0 0 1 56
GUSB 21 3 22 6 5 0 0 0 0 1 0 55
RBCK1 12 0 37 4 2 0 0 0 0 0 0 55
TNFRSF11A 9 0 31 15 0 0 0 0 0 0 0 55
COX10 0 0 30 14 10 0 0 0 0 0 0 54
EXT2 37 1 8 2 7 0 0 0 0 0 0 54
HPGD 6 1 37 2 8 0 0 0 0 0 0 54
TBX4 4 0 18 22 10 0 0 0 0 0 0 54
VCP 9 3 20 13 10 0 0 0 0 0 0 54
FERMT3 11 0 28 7 9 0 0 0 0 0 0 53
IL1RN 4 0 32 6 15 0 0 0 0 0 0 53
SDCCAG8 11 5 30 3 6 0 0 0 0 0 0 53
TCTN2 6 0 31 8 17 0 0 0 0 0 0 53
RNASEH2B 8 4 35 6 4 0 0 0 0 0 0 52
TMEM216 7 14 29 2 4 0 0 0 0 0 0 52
ABCC9 9 3 29 10 0 0 0 0 0 0 0 51
BRCA1 28 0 21 0 2 0 0 0 0 0 0 51
EFEMP1 1 0 12 22 16 0 0 0 0 0 0 51
NF1 24 1 25 0 0 0 0 0 0 0 0 50
GBA, LOC106627981 35 16 1 0 0 0 0 0 0 0 1 49
GNAS 39 7 4 0 0 0 0 0 0 0 0 49
GORAB 6 3 30 7 3 0 0 0 0 0 0 49
RP2 10 9 15 14 1 0 0 0 0 0 0 49
ABHD12 12 4 20 6 8 0 0 0 0 0 0 48
ERCC6, ERCC6-PGBD3 6 14 14 9 5 0 0 0 1 0 0 48
GUCY2D 23 12 10 0 5 0 0 0 0 0 0 48
BBS1 12 22 11 6 3 0 0 0 0 0 1 47
FUCA1 17 1 20 7 5 0 0 0 0 0 0 47
MSX2 9 1 20 12 7 0 0 0 0 0 0 47
TRAPPC2 13 1 16 12 6 0 0 0 0 0 0 47
ANTXR2 10 3 19 8 6 0 0 0 0 0 0 46
FANCL 7 2 23 11 4 0 0 0 0 0 0 46
IDS 34 5 7 0 0 0 0 0 0 0 0 46
KIAA0586 11 4 10 4 17 0 0 0 0 0 0 46
PEX16 5 1 30 7 4 0 0 0 0 0 1 46
PRPF31 13 23 9 1 0 0 0 0 0 0 0 46
RPS6KA3 30 8 8 1 0 0 0 0 0 0 0 46
RXYLT1 9 5 23 5 7 0 0 0 0 0 0 46
ACVR1 9 2