ClinVar Miner

Variants from KCCC/NGS Laboratory, Kuwait Cancer Control Center

Location: Kuwait  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 association likely risk allele total
171 33 283 664 1713 1 1 2866

Gene and significance breakdown #

Total genes and gene combinations: 168
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele total
BRCA2 40 4 63 19 75 0 0 201
BRCA1 37 6 19 13 39 0 0 114
TSC2 0 0 0 27 85 0 0 112
ATM 2 0 32 17 43 0 0 94
POLE 0 1 5 24 55 0 0 85
APC 7 0 8 13 43 0 0 71
NF1 4 1 0 23 39 0 0 67
POLD1 0 0 2 18 41 0 0 61
RECQL4 0 0 0 24 32 0 0 56
ALK 0 0 0 9 45 0 0 54
FANCA 0 0 0 17 37 0 0 54
SLX4 0 0 0 13 41 0 0 54
PALB2 11 2 16 6 18 0 0 53
MSH6 1 0 9 18 22 0 0 50
MSH2 6 2 4 17 20 0 0 49
BRIP1 5 1 21 6 14 0 0 47
CDH1 0 0 8 10 22 0 0 40
BARD1 2 0 15 5 17 0 0 39
PTCH1 1 1 0 10 27 0 0 39
RET 4 0 2 12 21 0 0 39
SDHA 2 0 0 10 27 0 0 39
PMS2 3 0 2 13 19 0 0 37
ATM, C11orf65 3 3 10 5 12 0 0 33
AXIN2 0 0 2 4 26 0 0 32
MLH1 3 0 2 8 19 0 0 32
CHEK2 5 2 17 2 5 0 0 31
TSC1 1 0 0 8 22 0 0 31
ATR 0 0 0 11 19 0 0 30
FANCD2, LOC107303338 0 0 0 5 24 0 0 29
WRN 0 0 0 6 23 0 0 29
FANCI 0 0 0 2 26 0 0 28
TP53 6 0 2 7 12 0 0 27
FANCM 0 0 0 2 24 0 0 26
BAP1 0 0 1 12 12 0 0 25
MLH3 0 0 4 4 17 0 0 25
RAD50 1 0 8 3 13 0 0 25
BLM 0 0 0 2 22 0 0 24
DICER1 0 0 0 8 16 0 0 24
KIT 0 0 0 8 16 0 0 24
RHBDF2 0 0 0 18 6 0 0 24
NBN 0 0 0 3 20 0 0 23
TERT 0 0 0 9 13 0 0 22
SETBP1 0 0 0 14 7 0 0 21
BRCA1, LOC126862571 8 0 5 3 4 0 0 20
MET 0 0 0 5 14 0 0 19
PTCH2 0 1 0 3 15 0 0 19
MUTYH 5 0 1 6 6 0 0 18
RAD51C 0 1 11 0 6 0 0 18
CBL 1 0 0 1 15 0 0 17
EGFR 0 0 0 8 9 0 0 17
ERCC4 0 0 0 5 12 0 0 17
FLCN 0 0 0 6 11 0 0 17
NTRK1 0 0 0 5 12 0 0 17
PALLD 0 0 1 5 11 0 0 17
STK11 0 0 0 5 12 0 0 17
ELAC2 0 0 0 3 13 0 0 16
CACNA1D 0 0 0 3 12 0 0 15
EPCAM 0 0 0 3 12 0 0 15
MRE11 0 0 0 1 14 0 0 15
PDGFRB 0 0 0 2 13 0 0 15
PTEN 2 1 1 5 6 0 0 15
BMPR1A 0 0 0 3 11 0 0 14
HNF1A 0 0 0 1 13 0 0 14
RB1 0 0 0 2 12 0 0 14
AOPEP, FANCC 0 0 0 4 9 0 0 13
BUB1B 0 0 0 2 11 0 0 13
EXT2 0 0 0 4 9 0 0 13
PTPN11 0 0 0 0 13 0 0 13
SPINK1 0 0 0 3 9 0 1 13
XPC 0 0 0 2 11 0 0 13
EXT1 0 0 0 5 7 0 0 12
LOC100507346, PTCH1 1 0 0 2 9 0 0 12
PIK3CA 0 0 0 2 10 0 0 12
RUNX1 0 0 0 2 10 0 0 12
FH 1 1 0 2 7 0 0 11
MEN1 1 0 0 6 4 0 0 11
PRF1 1 0 0 1 9 0 0 11
SDHB 0 2 0 3 6 0 0 11
LIG4 0 0 0 4 6 0 0 10
SPRED1 0 0 0 3 7 0 0 10
FANCB 0 0 0 0 8 0 0 8
FANCE 0 0 0 0 8 0 0 8
NF2 0 0 0 3 5 0 0 8
PRKAR1A 0 0 0 2 6 0 0 8
WAS 1 1 0 3 3 0 0 8
AKT1 0 0 0 2 5 0 0 7
CDC73 0 0 0 3 4 0 0 7
ERCC2 0 0 0 2 5 0 0 7
FANCC 0 0 0 1 6 0 0 7
FANCL 0 0 0 2 5 0 0 7
GPC3 0 0 0 1 6 0 0 7
PRSS1, TRB 0 0 1 1 5 0 0 7
TGFBR1 0 0 0 0 7 0 0 7
WT1 0 0 0 2 5 0 0 7
CBR4, PALLD 0 0 0 2 4 0 0 6
CDKN1B 0 0 0 0 6 0 0 6
HOXB13 0 0 0 2 4 0 0 6
LOC107982234, WT1 0 0 0 1 5 0 0 6
MITF 0 0 0 2 4 0 0 6
SBDS 0 1 0 0 5 0 0 6
SMAD4 0 0 0 2 4 0 0 6
TMEM127 0 0 2 0 4 0 0 6
CDKN2A 0 0 0 1 4 0 0 5
FANCD2, FANCD2OS 0 0 0 2 3 0 0 5
FANCF 0 0 0 1 4 0 0 5
FANCG 1 0 0 1 3 0 0 5
HNF1B 0 0 0 2 3 0 0 5
MTAP 0 0 0 3 2 0 0 5
POLH, POLR1C 1 0 0 0 4 0 0 5
RAD51D, RAD51L3-RFFL 0 2 3 0 0 0 0 5
SMARCB1 0 0 0 2 3 0 0 5
SUFU 0 0 0 0 5 0 0 5
XRCC2 0 0 0 1 4 0 0 5
CYLD 0 0 0 2 2 0 0 4
ERCC3 0 0 0 4 0 0 0 4
FANCG, VCP 0 0 0 0 4 0 0 4
PHOX2B 0 0 0 0 4 0 0 4
SDHD 0 0 0 0 4 0 0 4
SMARCE1 0 0 0 3 1 0 0 4
BUB1B, BUB1B-PAK6 0 0 0 0 3 0 0 3
FANCA, LOC112486223 0 0 0 0 3 0 0 3
FANCE, LOC129996245 0 0 0 2 1 0 0 3
LOC107303340, VHL 0 0 1 2 0 0 0 3
RAD50, TH2-LCR, TH2LCRR 0 0 2 1 0 0 0 3
RNF168 0 0 0 0 3 0 0 3
XPA 0 0 0 2 1 0 0 3
AIP 0 0 0 0 2 0 0 2
ANTXR1 0 0 0 1 1 0 0 2
CBL, LOC130006895 0 0 0 2 0 0 0 2
CDKN2A, LOC130001603 0 0 0 1 1 0 0 2
FANCA, LOC132090450 0 0 0 0 2 0 0 2
FANCD2 0 0 0 1 1 0 0 2
FANCI, POLG 0 0 0 1 1 0 0 2
LOC126860438, NBN 0 0 0 0 2 0 0 2
LOC129936244, XPC 0 0 0 0 2 0 0 2
LOC130001411, RECQL4 0 0 0 0 2 0 0 2
LOC130009266, POLE 0 0 0 1 1 0 0 2
LOC130062899, STK11 0 0 0 2 0 0 0 2
PPM1D 0 0 0 1 1 0 0 2
RAD50, TH2LCRR 0 0 1 0 1 0 0 2
SDHC 0 0 0 0 2 0 0 2
SH2D1A 0 0 0 2 0 0 0 2
VHL 0 0 0 1 1 0 0 2
ABL1 0 0 0 0 0 1 0 1
AIP, LOC130006206 0 0 0 0 1 0 0 1
BUB1B, LOC130056830 0 0 0 0 1 0 0 1
CACNA1D, LOC129936904 0 0 0 1 0 0 0 1
CDH1, LOC130059290 0 0 0 0 1 0 0 1
CDK4 0 0 0 0 1 0 0 1
CDK4, TSPAN31 0 0 0 0 1 0 0 1
CUX2, SH2B3 0 0 0 1 0 0 0 1
DMD, FANCA 1 0 0 0 0 0 0 1
ERCC4, LOC130058543 0 0 0 0 1 0 0 1
FANCA, LOC130059837 0 0 0 1 0 0 0 1
FANCF, LOC130005443 0 0 0 0 1 0 0 1
KDR 0 0 0 1 0 0 0 1
LOC100506321, MAX 1 0 0 0 0 0 0 1
LOC107988030, MITF 0 0 0 1 0 0 0 1
LOC126860342, WRN 0 0 0 0 1 0 0 1
LOC129390903, RAD51C 0 0 1 0 0 0 0 1
LOC129933707, MSH6 0 0 0 0 1 0 0 1
LOC129934333, TMEM127 0 0 0 0 1 0 0 1
LOC130002133, PTCH1 0 0 0 1 0 0 0 1
MPL 1 0 0 0 0 0 0 1
MPZ, SDHC 0 0 0 0 1 0 0 1
NTRK1, SH2D2A 0 0 0 0 1 0 0 1
RNASEL 0 0 1 0 0 0 0 1
SH2B3 1 0 0 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 124
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele total
Familial cancer of breast 23 7 113 40 106 0 0 289
Breast-ovarian cancer, familial, susceptibility to, 2 39 4 58 19 75 0 0 195
Breast-ovarian cancer, familial, susceptibility to, 1 45 6 24 16 43 0 0 134
Tuberous sclerosis 2 0 0 0 27 85 0 0 112
Colorectal cancer, susceptibility to, 12 0 1 5 25 56 0 0 87
Familial adenomatous polyposis 1 7 0 8 13 43 0 0 71
Neurofibromatosis, familial spinal 0 0 0 23 39 0 0 62
Colorectal cancer, susceptibility to, 10 0 0 2 18 41 0 0 61
Fanconi anemia complementation group A 1 0 0 18 42 0 0 61
Rothmund-Thomson syndrome type 2 0 0 0 24 34 0 0 58
Fanconi anemia complementation group P 0 0 0 13 41 0 0 54
Neuroblastoma, susceptibility to, 3 0 0 0 9 45 0 0 54
Gorlin syndrome 2 1 0 13 36 0 0 52
Lynch syndrome 5 1 0 9 18 23 0 0 51
Breast-ovarian cancer, familial, susceptibility to, 5 10 2 14 6 18 0 0 50
Lynch syndrome 1 6 2 4 17 20 0 0 49
Paragangliomas 5 1 0 0 10 27 0 0 38
Wiskott-Aldrich syndrome 1 1 0 9 27 0 0 38
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB 2 0 2 12 21 0 0 37
Fanconi anemia complementation group D2 0 0 0 8 28 0 0 36
Malignant tumor of prostate 0 0 2 10 23 0 0 35
Acute myeloid leukemia 0 0 0 11 23 0 0 34
Lynch syndrome 4 1 0 1 13 19 0 0 34
Juvenile myelomonocytic leukemia 1 0 0 3 28 0 0 32
Oligodontia-cancer predisposition syndrome 0 0 2 4 26 0 0 32
Colorectal cancer, hereditary nonpolyposis, type 2 3 0 1 8 19 0 0 31
Tuberous sclerosis 1 1 0 0 8 22 0 0 31
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 0 0 0 11 19 0 0 30
Fanconi anemia complementation group I 0 0 0 3 27 0 0 30
Li-Fraumeni syndrome 1 5 0 2 7 12 0 0 26
Premature ovarian failure 15 0 0 0 2 24 0 0 26
Acute lymphoid leukemia 0 0 0 3 22 0 0 25
Colorectal cancer, hereditary nonpolyposis, type 7 0 0 4 4 17 0 0 25
Exostoses, multiple, type 1 0 0 0 9 16 0 0 25
Bloom syndrome 0 0 0 2 22 0 0 24
Gastrointestinal stromal tumor 0 0 0 8 16 0 0 24
Melanoma, uveal, susceptibility to, 2 0 0 0 12 12 0 0 24
Palmoplantar keratoderma-esophageal carcinoma syndrome 0 0 0 18 6 0 0 24
Pleuropulmonary blastoma 0 0 0 8 16 0 0 24
Pancreatic cancer, susceptibility to, 1 0 0 1 7 15 0 0 23
Schinzel-Giedion syndrome 0 0 0 14 7 0 0 21
Fanconi anemia complementation group C 0 0 0 5 15 0 0 20
Hereditary pancreatitis 0 0 1 4 14 0 1 20
Juvenile polyposis syndrome 0 0 0 5 15 0 0 20
Breast-ovarian cancer, familial, susceptibility to, 3 0 1 12 0 6 0 0 19
Nonpapillary renal cell carcinoma 0 0 0 3 16 0 0 19
Papillary renal cell carcinoma type 1 0 0 0 5 14 0 0 19
Peutz-Jeghers syndrome 0 0 0 7 12 0 0 19
Basal cell carcinoma, susceptibility to, 1 0 0 0 3 15 0 0 18
Familial adenomatous polyposis 2 5 0 1 6 6 0 0 18
Xeroderma pigmentosum group A 0 0 0 4 14 0 0 18
Xeroderma pigmentosum, group F 0 0 0 5 13 0 0 18
Birt-Hogg-Dube syndrome 0 0 0 6 11 0 0 17
Colorectal cancer 0 0 0 2 15 0 0 17
Hereditary insensitivity to pain with anhidrosis 0 0 0 5 12 0 0 17
Lung cancer 0 0 0 8 9 0 0 17
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 0 4 12 0 0 16
Prostate cancer, hereditary, 2 0 0 0 3 13 0 0 16
Ataxia-telangiectasia-like disorder 1 0 0 0 1 14 0 0 15
Lynch syndrome 8 0 0 0 3 12 0 0 15
Myeloproliferative disorder, chronic, with eosinophilia 0 0 0 2 13 0 0 15
Cowden syndrome 1 2 1 0 5 6 0 0 14
Retinoblastoma 0 0 0 2 12 0 0 14
Wilms tumor 1 0 0 0 3 10 0 0 13
Cowden syndrome 5 0 0 0 2 10 0 0 12
Fanconi anemia complementation group E 0 0 0 2 9 0 0 11
Hereditary leiomyomatosis and renal cell cancer 1 1 0 2 7 0 0 11
Multiple endocrine neoplasia, type 1 1 0 0 6 4 0 0 11
Paragangliomas 4 0 2 0 3 6 0 0 11
DNA ligase IV deficiency 0 0 0 4 6 0 0 10
Legius syndrome 0 0 0 3 7 0 0 10
Lymphoma, non-Hodgkin, familial 0 0 0 1 9 0 0 10
Fanconi anemia complementation group G 1 0 0 1 7 0 0 9
Rhabdoid tumor predisposition syndrome 1 0 0 0 5 4 0 0 9
Familial atrial myxoma 0 0 0 2 6 0 0 8
Fanconi anemia complementation group B 0 0 0 0 8 0 0 8
Neurofibromatosis, type 2 0 0 0 3 5 0 0 8
Pheochromocytoma 1 0 2 0 5 0 0 8
Cowden syndrome 6 0 0 0 2 5 0 0 7
Fanconi anemia complementation group L 0 0 0 2 5 0 0 7
Hyperparathyroidism 2 with jaw tumors 0 0 0 3 4 0 0 7
Melanoma, cutaneous malignant, susceptibility to, 8 0 0 0 3 4 0 0 7
Melanoma-pancreatic cancer syndrome 0 0 0 2 5 0 0 7
Multiple self-healing squamous epithelioma 0 0 0 0 7 0 0 7
Paragangliomas 3 0 0 0 0 7 0 0 7
Simpson-Golabi-Behmel syndrome type 1 0 0 0 1 6 0 0 7
Xeroderma pigmentosum, group D 0 0 0 2 5 0 0 7
Fanconi anemia complementation group F 0 0 0 1 5 0 0 6
Multiple endocrine neoplasia type 4 0 0 0 0 6 0 0 6
Prostate cancer, hereditary, 9 0 0 0 2 4 0 0 6
Breast-ovarian cancer, familial, susceptibility to, 4 0 2 3 0 0 0 0 5
Diaphyseal medullary stenosis-bone malignancy syndrome 0 0 0 3 2 0 0 5
Familial meningioma 0 0 0 0 5 0 0 5
Fanconi anemia complementation group U 0 0 0 1 4 0 0 5
Neurofibromatosis, type 1 4 1 0 0 0 0 0 5
Shwachman-Diamond syndrome 1 0 0 0 0 5 0 0 5
Von Hippel-Lindau syndrome 0 0 1 3 1 0 0 5
Xeroderma pigmentosum variant type 1 0 0 0 4 0 0 5
Hereditary diffuse gastric adenocarcinoma 0 0 4 0 0 0 0 4
Mismatch repair cancer syndrome 4 2 0 2 0 0 0 0 4
Neuroblastoma, susceptibility to, 2 0 0 0 0 4 0 0 4
Trichoepithelioma, multiple familial, 1 0 0 0 2 2 0 0 4
Xeroderma pigmentosum group B 0 0 0 4 0 0 0 4
Capillary infantile hemangioma 0 0 0 2 1 0 0 3
Hereditary cancer-predisposing syndrome 0 0 3 0 0 0 0 3
Malignant tumor of breast 1 0 2 0 0 0 0 3
RIDDLE syndrome 0 0 0 0 3 0 0 3
Somatotroph adenoma 0 0 0 0 3 0 0 3
X-linked lymphoproliferative disease due to SH2D1A deficiency 0 0 0 2 1 0 0 3
Colon cancer 1 0 1 0 0 0 0 2
Li-Fraumeni syndrome 2 0 1 1 0 0 0 0 2
Melanoma, cutaneous malignant, susceptibility to, 3 0 0 0 0 2 0 0 2
Thrombocythemia 1 1 0 0 1 0 0 0 2
Aplastic anemia 0 1 0 0 0 0 0 1
Ataxia-telangiectasia syndrome 1 0 0 0 0 0 0 1
BAP1-related tumor predisposition syndrome 0 0 1 0 0 0 0 1
Chronic myelogenous leukemia, BCR-ABL1 positive 0 0 0 0 0 1 0 1
Colorectal cancer, susceptibility to, 1 0 0 1 0 0 0 0 1
Endometrial carcinoma 0 0 1 0 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 2 1 0 0 0 0 0 0 1
Familial medullary thyroid carcinoma 1 0 0 0 0 0 0 1
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 1 0 0 0 0 0 0 1
Prostate cancer, hereditary, 1 0 0 1 0 0 0 0 1
Thrombocythemia 2 1 0 0 0 0 0 0 1

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