ClinVar Miner

Variants from Color

Location: United States — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
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 total
1592 381 10272 8575 1539 22322

Gene and significance breakdown #

Total genes and gene combinations: 73
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 466 33 1234 895 192 2820
BRCA1 285 43 597 711 111 1747
APC 30 6 966 540 59 1600
ATM 107 39 699 582 59 1486
MSH6 70 15 699 508 42 1334
PALB2 103 11 452 295 30 891
MSH2 41 19 461 302 34 857
ATM, C11orf65 73 19 401 295 21 809
BRIP1 52 13 425 258 18 766
PMS2 43 7 317 245 31 642
BARD1 35 6 354 214 25 634
CDH1 15 5 310 278 22 630
MLH1 36 16 277 255 32 616
NBN 37 11 277 209 23 557
APOB 1 0 244 244 80 544
CHEK2 36 28 285 176 8 533
BAP1 10 3 227 270 17 527
MUTYH 33 18 228 185 17 481
STK11 1 1 168 241 12 423
TP53 15 13 124 215 20 387
RAD51C 19 16 175 108 9 327
RAD51D, RAD51L3-RFFL 16 7 143 133 10 309
BMPR1A 4 1 158 121 12 296
RYR2 0 0 93 88 78 259
LDLR 42 35 46 82 30 231
SMAD4 0 1 82 133 6 222
PTEN 7 1 80 118 3 209
DSP 0 0 66 71 47 184
CDKN2A 10 5 102 47 13 177
PCSK9 0 1 57 75 40 167
SCN5A 0 0 52 65 36 153
FBN1 1 0 46 65 40 152
MYBPC3 0 0 50 54 27 131
MYH11 0 0 36 43 34 113
MYH7 0 1 25 48 27 101
COL3A1 0 0 33 36 27 96
MYH11, NDE1 0 0 28 36 30 94
KCNH2 0 1 29 38 22 90
DSG2 0 0 32 23 31 86
PKP2 1 0 25 36 19 81
DSC2 0 0 26 24 14 64
KCNQ1 0 1 20 21 16 58
LMNA 0 0 12 17 14 43
TMEM43 0 0 16 12 14 42
PRKAG2 0 0 8 20 10 38
TGFBR2 0 0 8 18 10 36
SMAD3 1 0 3 21 5 30
TNNT2 0 0 7 9 10 26
MHRT, MYH7 0 0 7 11 7 25
MYL3 0 0 12 8 5 25
MUTYH, TOE1 0 0 10 8 1 19
TNNI3 0 2 4 8 2 16
GLA, RPL36A-HNRNPH2 0 1 3 6 5 15
ACTA2 0 1 4 7 2 14
TGFBR1 0 0 5 6 3 14
TPM1 0 0 2 9 3 14
LOC110121269, SCN5A 0 0 0 6 6 12
APOB, LOC106560211 0 0 4 4 2 10
MYL2 0 0 4 2 4 10
ACTC1, LOC101928174 0 0 1 6 2 9
KCNQ1, KCNQ1OT1 0 0 1 4 2 7
NBN, OSGIN2 0 0 3 4 0 7
APOB, APOB3'MAR 0 0 2 1 1 4
DSC2, DSCAS 0 0 3 0 1 4
LOC114827850, MYL2 0 0 1 1 2 4
BRCA2, LOC106721785 0 0 2 1 0 3
DNAAF3, TNNI3 0 0 0 0 3 3
FBN1, LOC113939944 0 0 1 1 0 2
LOC100128979, TPM1 0 0 0 2 0 2
CDK4 1 0 0 0 0 1
DNAAF3, TNNI3, TNNT1 0 0 0 0 1 1
LDLR, MIR6886 1 0 0 0 0 1
MITF 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 7
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary cancer-predisposing syndrome 1545 338 9256 7347 827 19311
Cardiomyopathy 1 3 394 449 321 1168
Familial hypercholesterolemias 44 36 342 356 105 883
Thoracic aortic aneurysm and aortic dissection 2 1 164 233 151 551
Arrhythmia 0 2 102 134 82 320
Familial hypercholesterolemia 0 1 29 58 73 160
Fabry disease 0 1 3 6 5 15

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.