ClinVar Miner

Variants from Color Diagnostics, LLC DBA Color Health

Location: United States  Primary collection method: clinical testing
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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 established risk allele total
3454 1007 27226 19215 2027 1 52920

Gene and significance breakdown #

Total genes and gene combinations: 118
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign established risk allele total
BRCA2 851 66 2278 1332 191 0 4718
APC 77 16 1953 980 59 1 3085
ATM 238 66 1354 901 60 0 2619
BRCA1 474 65 964 897 99 0 2499
MSH6 163 33 1346 793 44 0 2379
RYR2 1 0 1190 949 105 0 2245
MSH2 115 40 921 518 35 0 1629
DSP 28 20 951 559 56 0 1614
PALB2 220 29 843 469 30 0 1591
ATM, C11orf65 149 54 737 504 21 0 1465
BRIP1 85 50 794 432 18 0 1379
FBN1 6 8 735 549 66 0 1364
PMS2 98 24 688 411 42 0 1262
MLH1 87 55 541 444 41 0 1168
BARD1 70 18 671 360 23 0 1142
CDH1 39 15 606 448 24 0 1132
SCN5A 19 23 585 456 46 0 1129
MYBPC3 60 17 577 435 33 0 1122
BAP1 23 8 449 416 17 0 913
CHEK2 75 46 485 261 8 0 875
MYH7 6 23 410 382 41 0 862
LDLR 107 77 319 302 32 0 835
MUTYH 59 33 431 295 17 0 835
MYH11 0 0 406 337 45 0 788
COL3A1 7 6 424 315 31 0 783
KCNH2 12 9 310 321 35 0 687
DSG2 1 0 414 214 39 0 668
PKP2 26 6 358 236 26 0 652
TP53 37 29 239 329 13 0 647
PCSK9 1 1 333 270 44 0 643
STK11 3 4 276 327 11 0 621
MYH11, NDE1 0 0 316 235 36 0 587
BMPR1A 10 6 312 219 12 0 559
DSC2 0 0 351 190 17 0 558
RAD51D, RAD51L3-RFFL 26 22 259 204 10 0 521
RAD51C 37 22 283 158 8 0 508
KCNQ1 37 32 167 179 22 0 437
SMAD4 6 1 173 226 6 0 412
PTEN 20 3 152 190 4 0 369
BRCA1, LOC126862571 80 2 168 103 12 0 365
TMEM43 1 0 221 122 20 0 364
LMNA 2 1 180 152 13 0 348
PRKAG2 0 1 160 148 13 0 322
CDKN2A 25 13 160 88 12 0 298
TGFBR2 0 3 160 123 11 0 297
TNNT2 2 5 121 85 12 0 225
RYR1 9 7 41 73 89 0 219
SMAD3 3 4 83 116 5 0 211
TPM1 1 1 68 107 11 0 188
TNNI3 1 6 94 62 8 0 171
TGFBR1 1 1 87 73 6 0 168
LOC110121269, SCN5A 2 0 82 58 7 0 149
LOC126861897, MHRT, MYH7 1 0 83 52 5 0 141
ACTC1, GJD2-DT 0 0 36 93 2 0 131
ACTA2 0 2 60 65 2 0 129
MYL3 0 1 71 44 11 0 127
GLA, RPL36A-HNRNPH2 5 4 62 48 6 0 125
LOC126806068, RYR2 0 0 78 41 5 0 124
MYL2 0 0 63 43 5 0 111
TSC2 1 2 14 29 60 0 106
CACNA1S 1 1 25 36 35 0 98
MHRT, MYH7 0 1 38 48 4 0 91
LOC130062899, STK11 0 0 40 33 1 0 74
LOC126861898, MYH7 2 7 32 27 5 0 73
LOC126806067, RYR2 0 0 51 15 6 0 72
ATP7B 5 2 24 15 15 0 61
APOB 2 0 3 19 33 0 57
RET 3 3 8 16 16 0 46
TSC1 2 0 7 10 25 0 44
KCNQ1, KCNQ1OT1 4 0 21 14 2 0 41
LOC129390903, RAD51C 4 1 26 9 0 0 40
MUTYH, TOE1 0 0 24 13 1 0 38
LOC114827850, MYL2 1 0 18 10 5 0 34
LOC129933707, MSH6 1 1 6 24 1 0 33
LOC126860438, NBN 3 0 14 11 2 0 30
DSC2, DSCAS 0 0 18 9 1 0 28
CDKN2A, LOC130001603 1 0 17 6 2 0 26
LMNA, LOC126805877 0 0 16 8 2 0 26
FBN1, LOC113939944 0 0 15 9 1 0 25
FBN1, LOC126862124 0 0 16 8 1 0 25
APOB, LOC106560211 0 0 13 8 2 0 23
SDHB 7 2 1 2 11 0 23
COL3A1, LOC126806446 0 1 8 11 2 0 22
DSG2, LOC130062340 0 0 14 7 1 0 22
LOC129999660, PRKAG2 0 0 5 14 1 0 20
RB1 0 0 5 3 12 0 20
LOC126861897, MYH7 0 0 13 4 0 0 17
MEN1 1 0 1 7 8 0 17
LDLR, MIR6886 1 1 4 8 1 0 15
LMNA, LOC129931597 0 0 6 7 1 0 14
NF2 0 0 2 7 4 0 13
APOB, APOB3'MAR 0 0 8 3 1 0 12
LOC130061310, RAD51C 0 0 6 6 0 0 12
OTC 1 1 0 3 6 0 11
KCNK12, MSH2 0 0 1 2 6 0 9
LOC126862902, RYR1 0 0 2 1 6 0 9
LOC130057352, SMAD3 1 0 4 2 2 0 9
FBN1, LOC130057019 0 0 5 1 2 0 8
SDHAF2 3 2 0 2 0 0 7
SDHC 1 2 2 0 2 0 7
LOC107982234, WT1 0 0 0 0 5 0 5
SDHD 1 0 1 0 3 0 5
VHL 0 0 2 0 3 0 5
WT1 0 0 0 2 3 0 5
APC, LOC129994371 1 0 2 1 0 0 4
BRCA2, LOC106721785 0 0 3 1 0 0 4
CDH1, LOC130059290 0 0 4 0 0 0 4
DNAAF3, TNNI3 0 0 0 0 3 0 3
BRCA1, LOC111589215 0 0 1 1 0 0 2
LOC130057222, TPM1 0 0 0 2 0 0 2
CDK4 1 0 0 0 0 0 1
COL3A1, MIR3606 0 0 0 1 0 0 1
DNAAF3, TNNI3, TNNT1 0 0 0 0 1 0 1
GLA, HNRNPH2, RPL36A-HNRNPH2 0 1 0 0 0 0 1
LOC106736614, RET 0 0 0 1 0 0 1
LOC126861339, SDHD 0 0 0 0 1 0 1
MITF 0 1 0 0 0 0 1
POLE 0 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign established risk allele total
Hereditary cancer-predisposing syndrome 3078 723 17228 11412 830 1 33270
Cardiomyopathy 133 89 5637 4065 452 0 10376
Familial thoracic aortic aneurysm and aortic dissection 18 25 2319 1845 210 0 4417
Cardiac arrhythmia 74 64 1165 1028 112 0 2443
Familial hypercholesterolemia 111 79 675 581 62 0 1508
Malignant hyperthermia, susceptibility to, 1 9 7 43 74 95 0 228
Fabry disease 5 5 62 48 6 0 126
Tuberous sclerosis 2 1 2 14 29 60 0 106
Malignant hyperthermia, susceptibility to, 5 1 1 25 36 35 0 98
Hypercholesterolemia, familial, 1 0 0 5 31 52 0 87
Wilson disease 5 2 24 15 15 0 61
Multiple endocrine neoplasia, type 2 3 3 8 17 16 0 47
Tuberous sclerosis 1 2 0 7 10 25 0 44
Paragangliomas 4 7 2 1 2 11 0 23
Retinoblastoma 0 0 5 3 12 0 20
Multiple endocrine neoplasia, type 1 1 0 1 7 8 0 17
Neurofibromatosis, type 2 0 0 2 7 4 0 13
Ornithine carbamoyltransferase deficiency 1 1 0 3 6 0 11
Nephroblastoma 0 0 0 2 8 0 10
Paragangliomas 2 3 2 0 2 0 0 7
Paragangliomas 3 1 2 2 0 2 0 7
Paragangliomas 1 1 0 1 0 4 0 6
Von Hippel-Lindau syndrome 0 0 2 0 3 0 5

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