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 total
221 62 458 665 2307 1 3624

Gene and significance breakdown #

Total genes and gene combinations: 172
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association total
BRCA2 50 6 77 19 109 0 254
ATM 6 2 71 17 56 0 152
BRCA1 47 8 30 13 50 0 148
TSC2 0 0 0 26 105 0 131
POLE 0 1 6 24 73 0 104
APC 8 1 9 13 55 0 86
NF1 8 3 0 23 58 0 86
POLD1 0 0 5 18 62 0 85
PALB2 16 2 23 6 24 0 71
BRIP1 5 1 39 6 19 0 70
RECQL4 0 0 0 24 58 0 70
MSH6 1 1 13 15 33 0 63
ALK 0 0 0 9 53 0 62
SLX4 0 0 0 13 48 0 61
ATM, C11orf65 3 5 21 5 23 0 57
FANCA 0 0 0 17 40 0 57
CDH1 1 3 16 10 28 0 54
BARD1 3 0 26 5 19 0 53
MSH2 7 2 4 17 23 0 53
PTCH1 1 1 0 10 37 0 49
CHEK2 6 4 30 2 8 0 48
RET 4 0 3 12 35 0 48
RAD50 1 1 21 3 20 0 45
PMS2 3 0 3 13 25 0 44
TSC1 1 0 0 8 35 0 44
AXIN2 0 0 3 4 35 0 42
SDHA 2 1 0 10 27 0 40
MLH1 4 0 2 8 29 0 37
TP53 6 2 3 7 18 0 36
WRN 0 0 0 6 32 0 36
DICER1 1 0 0 8 26 0 35
BAP1 0 0 1 12 27 0 34
FANCI 0 0 0 3 31 0 34
ATR 0 0 0 11 20 0 31
TERT 0 0 0 9 27 0 30
FANCD2, LOC107303338 0 0 0 5 24 0 29
KIT 0 0 0 8 21 0 29
FANCM 0 0 0 2 26 0 28
BLM 0 0 0 2 25 0 27
MLH3 0 0 4 4 22 0 27
NBN 0 0 0 3 26 0 27
BRCA1, LOC126862571 12 0 5 3 6 0 26
MET 0 0 0 5 21 0 26
SETBP1 0 0 0 14 12 0 26
STK11 0 0 0 5 21 0 26
RAD51C 0 1 15 0 9 0 25
RHBDF2 0 0 0 18 6 0 24
CBL 1 0 0 1 18 0 20
EGFR 0 1 0 8 11 0 20
EPCAM 0 1 1 3 15 0 20
MEN1 1 0 0 6 13 0 20
MRE11 0 0 0 1 19 0 20
MUTYH 6 1 1 6 6 0 20
PKD1, TSC2 0 0 0 1 20 0 20
PTCH2 0 1 0 3 17 0 20
BMPR1A 0 0 0 3 16 0 19
EXT2 0 2 0 4 16 0 19
FLCN 0 0 0 6 13 0 19
PALLD 0 0 1 5 13 0 19
ELAC2 0 0 0 3 15 0 18
NTRK1 0 0 0 5 13 0 18
CACNA1D 0 0 0 3 14 0 17
ERCC4 0 0 0 5 12 0 17
PTEN 3 2 1 5 6 0 17
PTPN11 1 0 0 0 16 0 17
RB1 0 0 0 2 15 0 17
HNF1A 0 0 0 1 16 0 16
PDGFRB 0 0 0 2 15 0 15
RUNX1 0 0 0 2 14 0 15
AOPEP, FANCC 0 0 0 4 10 0 14
BUB1B 0 0 0 3 12 0 14
PIK3CA 0 0 0 2 12 0 14
FH 1 1 0 2 9 0 13
RAD51D, RAD51L3-RFFL 0 2 11 0 0 0 13
SDHB 0 2 0 3 8 0 13
SPINK1 0 1 0 3 9 0 13
XPC 0 0 0 2 13 0 13
BIVM-ERCC5, ERCC5 0 0 0 0 12 0 12
EXT1 0 0 0 5 7 0 12
GPC3 0 0 0 1 11 0 12
LOC100507346, PTCH1 1 0 0 2 9 0 12
AKT1 0 0 0 2 9 0 11
NF2 0 0 0 3 8 0 11
PRF1 1 0 0 1 10 0 11
LIG4 0 0 0 4 6 0 10
SPRED1 0 0 0 3 7 0 10
TGFBR1 0 0 0 0 10 0 10
WT1 0 0 0 2 8 0 10
FANCB 0 0 0 0 9 0 9
FANCG 1 0 0 1 7 0 9
WAS 2 1 0 3 3 0 9
CDC73 0 0 0 3 5 0 8
CDKN1B 0 0 1 0 7 0 8
FANCC 0 0 0 1 7 0 8
FANCE 0 0 0 0 8 0 8
FANCF 0 0 0 1 7 0 8
FANCL 0 0 0 2 6 0 8
PRKAR1A 0 0 0 2 6 0 8
PRSS1, TRB 0 0 1 1 6 0 8
SMAD4 0 0 0 2 8 0 8
SUFU 0 0 0 0 8 0 8
CBR4, PALLD 0 0 0 2 5 0 7
ERCC2 0 0 0 2 5 0 7
HNF1B 0 0 0 2 7 0 7
SMARCB1 0 0 0 2 6 0 7
VHL 1 0 1 1 4 0 7
CDKN2A 0 0 0 1 6 0 6
HOXB13 0 0 0 2 4 0 6
LOC107982234, WT1 0 0 0 1 5 0 6
MITF 0 0 0 2 5 0 6
MTAP 0 0 0 3 3 0 6
PHOX2B 0 0 0 0 6 0 6
SBDS 0 1 0 0 5 0 6
SDHC 0 1 0 0 5 0 6
SMARCE1 0 0 0 3 5 0 6
TMEM127 0 0 2 0 4 0 6
FANCD2, FANCD2OS 0 0 0 2 3 0 5
FBXO11, MSH6 0 0 0 3 5 0 5
POLH 1 0 0 0 4 0 5
SDHD 0 0 0 0 5 0 5
XRCC2 0 0 0 1 4 0 5
CYLD 0 0 0 2 2 0 4
ERCC3 0 0 0 4 0 0 4
LOC107303340, VHL 1 0 1 2 0 0 4
RAD50, TH2-LCR, TH2LCRR 0 0 3 1 0 0 4
AIP 0 0 0 0 3 0 3
BUB1B, BUB1B-PAK6 0 0 0 0 3 0 3
CDK4 0 0 0 0 3 0 3
FANCA, LOC112486223 0 0 0 0 3 0 3
FANCE, LOC129996245 0 0 0 2 1 0 3
LOC130062899, STK11 0 0 0 2 1 0 3
RAD50, TH2LCRR 0 0 1 0 2 0 3
RNF168 0 0 0 0 3 0 3
XPA 0 0 0 2 1 0 3
ANTXR1 0 0 0 1 1 0 2
CBL, LOC130006895 0 0 0 2 0 0 2
CDH1, LOC130059290 0 0 0 0 2 0 2
CDK4, TSPAN31 0 0 0 0 2 0 2
CDKN2A, LOC130001603 0 0 0 1 1 0 2
FANCA, LOC132090450 0 0 0 0 2 0 2
FANCD2 0 0 0 1 1 0 2
LOC126860438, NBN 0 0 0 0 2 0 2
LOC129390903, RAD51C 0 0 2 0 0 0 2
LOC129936244, XPC 0 0 0 0 2 0 2
LOC130001411, RECQL4 0 0 0 0 2 0 2
LOC130009266, POLE 0 0 0 1 1 0 2
PPM1D 0 0 0 1 2 0 2
SH2B3 1 0 0 1 0 0 2
SH2D1A 0 0 0 2 0 0 2
ABL1 0 0 0 0 0 1 1
AIP, LOC130006206 0 0 0 0 1 0 1
BIVM-ERCC5, ERCC5, LOC126861834 0 0 0 0 1 0 1
BUB1B, LOC130056830 0 0 0 0 1 0 1
CACNA1D, LOC129936904 0 0 0 1 0 0 1
CIAO1, LOC129934333, TMEM127 0 0 0 0 1 0 1
DMD, FANCA 1 0 0 0 0 0 1
ERCC4, LOC130058543 0 0 0 0 1 0 1
FANCA, LOC130059837 0 0 0 1 0 0 1
FANCF, LOC130005443 0 0 0 0 1 0 1
KDR 0 0 0 1 0 0 1
LOC107988030, MITF 0 0 0 1 1 0 1
LOC110806263, TERT 0 0 0 0 1 0 1
LOC126860342, WRN 0 0 0 0 1 0 1
LOC129933707, MSH6 0 0 0 0 1 0 1
LOC130002133, PTCH1 0 0 0 1 0 0 1
LOC130002223, TGFBR1 0 0 0 0 1 0 1
MAX 1 0 0 0 0 0 1
MPL 1 0 0 0 0 0 1
NTRK1, SH2D2A 0 0 0 0 1 0 1
RAD51C, TEX14 0 0 0 0 1 0 1
RNASEL 0 0 1 0 0 0 1
SDHAF2 0 0 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 155
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association total
Familial cancer of breast 30 16 211 40 228 0 525
Breast-ovarian cancer, familial, susceptibility to, 2 48 6 69 19 75 0 217
Breast-ovarian cancer, familial, susceptibility to, 1 59 7 34 16 56 0 172
Tuberous sclerosis 2 0 0 0 27 116 0 143
Colorectal cancer, susceptibility to, 12 0 1 6 25 74 0 106
Colorectal cancer, susceptibility to, 10 0 0 5 18 62 0 85
Familial adenomatous polyposis 1 8 1 8 13 55 0 85
Breast-ovarian cancer, familial, susceptibility to, 5 15 2 21 6 24 0 68
Lynch syndrome 5 1 1 13 18 35 0 68
Fanconi anemia complementation group A 1 0 0 18 45 0 64
Neurofibromatosis, type 1 8 3 0 0 52 0 63
Neuroblastoma, susceptibility to, 3 0 0 0 9 53 0 62
Neurofibromatosis, familial spinal 0 0 0 23 39 0 62
Fanconi anemia complementation group P 0 0 0 13 48 0 61
Rothmund-Thomson syndrome type 2 0 0 0 24 34 0 58
Lynch syndrome 1 7 2 4 17 23 0 53
Gorlin syndrome 2 1 0 13 36 0 52
Rapadilino syndrome 0 0 0 0 51 0 51
Tuberous sclerosis 1 1 0 0 8 35 0 44
Oligodontia-cancer predisposition syndrome 0 0 3 4 35 0 42
Pheochromocytoma 2 0 2 0 38 0 42
Lynch syndrome 4 1 0 2 13 25 0 41
Hereditary diffuse gastric adenocarcinoma 1 1 10 0 28 0 40
Pheochromocytoma/paraganglioma syndrome 5 1 1 0 10 27 0 39
Wiskott-Aldrich syndrome 1 1 0 9 27 0 38
Multiple endocrine neoplasia type 2B 2 0 2 12 21 0 37
Fanconi anemia complementation group D2 0 0 0 8 28 0 36
Juvenile myelomonocytic leukemia 1 0 0 3 31 0 35
Li-Fraumeni syndrome 1 5 2 3 7 18 0 35
Pleuropulmonary blastoma 1 0 0 8 26 0 35
Prostate cancer 0 0 2 10 23 0 35
Acute myeloid leukemia 0 0 0 11 23 0 34
Fanconi anemia complementation group I 0 0 0 3 31 0 34
Werner syndrome 0 0 0 0 33 0 33
Colorectal cancer, hereditary nonpolyposis, type 2 4 0 1 8 19 0 32
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 0 0 0 11 20 0 31
Breast-ovarian cancer, familial, susceptibility to, 3 0 1 18 0 10 0 29
Gastrointestinal stromal tumor 0 0 0 8 21 0 29
Peutz-Jeghers syndrome 0 0 0 7 22 0 29
CHEK2-related cancer predisposition 1 4 15 0 8 0 28
Premature ovarian failure 15 0 0 0 2 26 0 28
BAP1-related tumor predisposition syndrome 0 0 1 0 26 0 27
Bloom syndrome 0 0 0 2 25 0 27
Melanoma, cutaneous malignant, susceptibility to, 9 0 0 0 0 27 0 27
Microcephaly, normal intelligence and immunodeficiency 0 0 0 0 27 0 27
Muir-Torré syndrome 0 0 0 0 26 0 26
Pancreatic cancer, susceptibility to, 1 0 0 1 7 18 0 26
Papillary renal cell carcinoma type 1 0 0 0 5 21 0 26
Schinzel-Giedion syndrome 0 0 0 14 12 0 26
Acute lymphoid leukemia 0 0 0 3 22 0 25
Basal cell nevus syndrome 1 0 0 0 0 25 0 25
Colorectal cancer, hereditary nonpolyposis, type 7 0 0 4 4 17 0 25
Exostoses, multiple, type 1 0 0 0 9 16 0 25
Juvenile polyposis syndrome 0 0 0 5 20 0 25
Melanoma, uveal, susceptibility to, 2 0 0 0 12 12 0 24
Palmoplantar keratoderma-esophageal carcinoma syndrome 0 0 0 18 6 0 24
Endometrial carcinoma 0 0 1 0 22 0 23
Fanconi anemia complementation group C 0 0 0 5 17 0 22
Hereditary pancreatitis 0 1 1 4 15 0 21
Nijmegen breakage syndrome-like disorder 0 0 0 0 21 0 21
Ataxia-telangiectasia-like disorder 1 0 0 0 1 19 0 20
Familial adenomatous polyposis 2 6 1 1 6 6 0 20
Lung cancer 0 1 0 8 11 0 20
Multiple endocrine neoplasia, type 1 1 0 0 6 13 0 20
Polycystic kidney disease, adult type 0 0 0 0 20 0 20
Lynch syndrome 8 0 0 1 3 15 0 19
Nonpapillary renal cell carcinoma 0 0 0 3 16 0 19
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 0 4 14 0 18
Basal cell carcinoma, susceptibility to, 1 0 0 0 3 15 0 18
Hereditary insensitivity to pain with anhidrosis 0 0 0 5 13 0 18
Prostate cancer, hereditary, 2 0 0 0 3 15 0 18
Xeroderma pigmentosum group A 0 0 0 4 14 0 18
Xeroderma pigmentosum, group F 0 0 0 5 13 0 18
Birt-Hogg-Dube syndrome 0 0 0 6 11 0 17
Colorectal cancer 0 0 0 2 15 0 17
Premature chromatid separation trait 0 0 0 1 16 0 17
Retinoblastoma 0 0 0 2 15 0 17
Cowden syndrome 1 3 2 0 5 6 0 16
Maturity-onset diabetes of the young type 3 0 0 0 0 16 0 16
Wilms tumor 1 0 0 0 3 13 0 16
Exostoses, multiple, type 2 0 2 0 0 13 0 15
Myeloproliferative disorder, chronic, with eosinophilia 0 0 0 2 13 0 15
Myofibromatosis, infantile, 1 0 0 0 0 15 0 15
Cowden syndrome 5 0 0 0 2 12 0 14
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 0 0 0 0 14 0 14
Metachondromatosis 0 0 0 0 14 0 14
Breast-ovarian cancer, familial, susceptibility to, 4 0 2 11 0 0 0 13
Hereditary leiomyomatosis and renal cell cancer 1 1 0 2 9 0 13
Pheochromocytoma/paraganglioma syndrome 4 0 2 0 3 8 0 13
Xeroderma pigmentosum, group G 0 0 0 0 13 0 13
Simpson-Golabi-Behmel syndrome type 1 0 0 0 1 11 0 12
Xeroderma pigmentosum, group C 0 0 0 0 12 0 12
Cowden syndrome 6 0 0 0 2 9 0 11
Fanconi anemia complementation group E 0 0 0 2 9 0 11
Multiple self-healing squamous epithelioma 0 0 0 0 11 0 11
Neurofibromatosis, type 2 0 0 0 3 8 0 11
DNA ligase IV deficiency 0 0 0 4 6 0 10
Familial hemophagocytic lymphohistiocytosis 2 1 0 0 0 9 0 10
Legius syndrome 0 0 0 3 7 0 10
Lymphoma, non-Hodgkin, familial 0 0 0 1 9 0 10
Pheochromocytoma/paraganglioma syndrome 3 0 1 0 0 9 0 10
SMARCB1-related schwannomatosis 0 0 0 0 10 0 10
Von Hippel-Lindau syndrome 1 0 2 3 4 0 10
Fanconi anemia complementation group B 0 0 0 0 9 0 9
Fanconi anemia complementation group F 0 0 0 1 8 0 9
Fanconi anemia complementation group G 1 0 0 1 7 0 9
Rhabdoid tumor predisposition syndrome 1 0 0 0 5 4 0 9
Familial atrial myxoma 0 0 0 2 6 0 8
Familial meningioma 0 0 0 0 8 0 8
Fanconi anemia complementation group L 0 0 0 2 6 0 8
Hyperparathyroidism 2 with jaw tumors 0 0 0 3 5 0 8
Multiple endocrine neoplasia type 4 0 0 1 0 7 0 8
Melanoma, cutaneous malignant, susceptibility to, 8 0 0 0 3 4 0 7
Melanoma-pancreatic cancer syndrome 0 0 0 2 5 0 7
Myhre syndrome 0 0 0 0 7 0 7
Renal cysts and diabetes syndrome 0 0 0 0 7 0 7
Xeroderma pigmentosum, group D 0 0 0 2 5 0 7
Aplastic anemia 0 1 0 0 5 0 6
Diaphyseal medullary stenosis-bone malignancy syndrome 0 0 0 3 3 0 6
Melanoma, cutaneous malignant, susceptibility to, 2 0 0 0 0 6 0 6
Prostate cancer, hereditary, 9 0 0 0 2 4 0 6
Waardenburg syndrome type 2A 0 0 0 0 6 0 6
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 0 0 0 0 5 0 5
Fanconi anemia complementation group U 0 0 0 1 4 0 5
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 0 0 0 5 0 5
Melanoma, cutaneous malignant, susceptibility to, 3 0 0 0 0 5 0 5
Pheochromocytoma/paraganglioma syndrome 1 0 0 0 0 5 0 5
Shwachman-Diamond syndrome 1 0 0 0 0 5 0 5
Xeroderma pigmentosum variant type 1 0 0 0 4 0 5
Mismatch repair cancer syndrome 4 2 0 2 0 0 0 4
Neuroblastoma, susceptibility to, 2 0 0 0 0 4 0 4
Somatotroph adenoma 0 0 0 0 4 0 4
Trichoepithelioma, multiple familial, 1 0 0 0 2 2 0 4
Xeroderma pigmentosum group B 0 0 0 4 0 0 4
Capillary infantile hemangioma 0 0 0 2 1 0 3
Hereditary cancer-predisposing syndrome 0 0 3 0 0 0 3
Malignant tumor of breast 1 0 2 0 0 0 3
RIDDLE syndrome 0 0 0 0 3 0 3
X-linked lymphoproliferative disease due to SH2D1A deficiency 0 0 0 2 1 0 3
Birt-Hogg-Dube syndrome 1 0 0 0 0 2 0 2
Colon cancer 1 0 1 0 0 0 2
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 0 0 0 2 0 2
Multiple endocrine neoplasia type 2A 1 0 1 0 0 0 2
Thrombocythemia 1 1 0 0 1 0 0 2
Ataxia-telangiectasia syndrome 1 0 0 0 0 0 1
Chronic myeloid leukemia 0 0 0 0 0 1 1
Colorectal cancer, susceptibility to, 1 0 0 1 0 0 0 1
Familial medullary thyroid carcinoma 1 0 0 0 0 0 1
Gastric adenocarcinoma and proximal polyposis of the stomach 0 0 1 0 0 0 1
Multiple mitochondrial dysfunctions syndrome 10 0 0 0 0 1 0 1
Noonan syndrome 1 1 0 0 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 2 0 0 0 0 1 0 1
Prostate cancer, hereditary, 1 0 0 1 0 0 0 1
Thrombocythemia 2 1 0 0 0 0 0 1
Thrombocytopenia 1 1 0 0 0 0 0 1

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