ClinVar Miner

Variants with conflicting interpretations studied for Neoplasm of the large intestine

Coded as:
Minimum review status of the submission for Neoplasm of the large intestine: Y axis collection method of the submission for Neoplasm of the large intestine:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
21 188 8 148 0 11 68 211

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Neoplasm of the large intestine pathogenic likely pathogenic uncertain significance likely benign drug response other
pathogenic 6 38 3 0 3 0
likely pathogenic 110 2 64 1 3 5

Condition to condition summary #

Total conditions: 124
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Li-Fraumeni syndrome 0 17 0 23 0 0 42 64
not provided 0 32 2 40 0 0 9 50
Hereditary cancer-predisposing syndrome 0 41 0 28 0 0 20 47
Malignant melanoma of skin 0 173 0 26 0 0 0 26
Adenocarcinoma of stomach 0 241 0 23 0 0 0 23
Acute myeloid leukemia 0 73 0 22 0 0 0 22
Lung adenocarcinoma 0 245 0 22 0 0 0 22
Transitional cell carcinoma of the bladder 0 179 0 20 0 0 0 20
Malignant neoplasm of body of uterus 0 199 0 19 0 0 0 19
Cutaneous melanoma 0 14 0 17 0 0 0 17
Squamous cell carcinoma of the head and neck 0 228 0 17 0 0 0 17
Multiple myeloma 0 105 0 16 0 0 0 16
Adenocarcinoma of prostate 0 127 0 15 0 0 0 15
Glioblastoma 0 152 0 15 0 0 0 15
Neoplasm of brain 0 177 0 15 0 0 0 15
Hepatocellular carcinoma 0 172 0 14 0 0 0 14
Uterine cervical neoplasms 0 86 0 14 0 0 0 14
Squamous cell lung carcinoma 0 181 0 13 0 0 0 13
Li-Fraumeni syndrome 1 0 3 0 10 0 0 2 12
Carcinoma of esophagus 0 166 0 10 0 0 0 10
Uterine Carcinosarcoma 0 130 0 10 0 0 0 10
Pancreatic adenocarcinoma 0 194 0 9 0 0 0 9
Medulloblastoma 0 41 0 7 0 1 0 8
Ovarian Serous Cystadenocarcinoma 0 185 0 8 0 0 0 8
Renal cell carcinoma, papillary, 1 0 68 0 8 0 0 0 8
Brainstem glioma 0 59 0 7 0 0 0 7
Neoplasm of the thyroid gland 0 25 0 7 0 0 0 7
Ovarian Neoplasms 0 71 0 7 0 0 0 7
Costello syndrome 0 2 0 6 0 0 0 6
Nasopharyngeal Neoplasms 0 13 0 6 0 0 0 6
Papillary renal cell carcinoma, sporadic 0 39 0 6 0 0 0 6
Rasopathy 0 4 0 5 0 0 1 6
Small cell lung cancer 0 78 0 6 0 0 0 6
Adrenocortical carcinoma 0 55 0 5 0 0 0 5
Cowden syndrome 0 1 0 4 0 0 1 5
Myelodysplastic syndrome 0 21 0 5 0 0 0 5
Neoplasm of the breast 0 250 0 5 0 0 0 5
Non-small cell lung cancer 0 40 0 5 0 0 0 5
PIK3CA related overgrowth spectrum 0 2 0 5 0 0 0 5
not specified 0 4 0 1 0 0 4 5
Carcinoma of gallbladder 0 18 0 4 0 0 0 4
Chronic lymphocytic leukemia 0 61 0 4 0 0 0 4
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 0 0 3 1 0 0 0 4
Familial adenomatous polyposis 1 0 0 0 4 0 0 0 4
Juvenile myelomonocytic leukemia 0 5 0 4 0 0 0 4
Neoplasm 0 14 0 4 0 0 0 4
Carcinoma of colon 0 7 0 3 0 0 0 3
Congenital giant melanocytic nevus; Epidermal nevus syndrome; Bladder cancer, somatic; Costello syndrome; Epidermal nevus; Follicular thyroid carcinoma 0 0 0 3 0 0 0 3
Familial adenomatous polyposis 0 0 0 3 0 0 0 3
Inborn genetic diseases 0 1 0 3 0 0 0 3
McCune-Albright syndrome 0 0 0 3 0 0 0 3
Nevus sebaceous 0 2 0 3 0 0 0 3
Noonan syndrome 0 2 0 3 0 0 0 3
PTEN hamartoma tumor syndrome 0 2 0 1 0 0 2 3
Pilomatrixoma 0 0 0 3 0 0 0 3
Squamous cell carcinoma of the skin 0 63 0 3 0 0 0 3
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma 0 0 0 2 0 0 0 2
Breast adenocarcinoma 0 6 0 2 0 0 0 2
Cushing's syndrome 0 0 0 2 0 0 0 2
Epidermal nevus 0 4 0 2 0 0 0 2
Focal cortical dysplasia type II 0 0 0 2 0 0 0 2
Hepatoblastoma 0 0 0 2 0 1 0 2
JP and JP/HHT 0 1 0 2 0 0 0 2
Li-Fraumeni-like syndrome 0 0 0 2 0 0 0 2
Lung cancer 0 4 0 2 0 0 0 2
Malignant tumor of prostate 0 0 0 1 0 0 1 2
Megalencephaly cutis marmorata telangiectatica congenita 0 0 1 1 0 0 0 2
Osteosarcoma 0 0 0 2 0 0 0 2
PARP Inhibitor response 0 0 0 0 0 2 0 2
PITUITARY ADENOMA 3, MULTIPLE TYPES 0 0 0 2 0 0 0 2
Sex cord-stromal tumor 0 0 0 2 0 0 0 2
Vascular Tumors Including Pyogenic Granuloma 0 0 0 2 0 0 0 2
ADRENAL CORTICAL NEOPLASM 0 0 0 0 0 1 0 1
Anaplastic thyroid carcinoma 0 0 0 1 0 0 0 1
Anti-PDL1 response 0 0 0 0 0 1 0 1
Astrocytoma, anaplastic 0 0 0 1 0 0 0 1
Astrocytoma, anaplastic; Pleomorphic xanthoastrocytoma 0 0 0 1 0 0 0 1
Atypical teratoid/rhabdoid tumor 0 0 0 1 0 0 0 1
Bladder cancer, transitional cell, somatic 0 0 0 1 0 0 0 1
Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 0 2 0 1 0 0 0 1
Cardio-facio-cutaneous syndrome 0 2 0 1 0 0 0 1
Colorectal cancer, susceptibility to, 12 0 0 0 0 0 0 1 1
Congenital giant melanocytic nevus 0 2 0 1 0 0 0 1
Cowden syndrome 1 0 1 0 1 0 0 0 1
Cowden syndrome 5 0 0 0 1 0 0 0 1
D-2-hydroxyglutaric aciduria 2 0 0 0 1 0 0 0 1
Desmoid tumor, somatic 0 0 0 1 0 0 0 1
Embryonal rhabdomyosarcoma 0 0 0 0 0 1 0 1
Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation 0 0 0 1 0 0 0 1
Endometrial carcinoma 0 1 0 1 0 0 0 1
Epidermal nevus syndrome 0 2 0 1 0 0 0 1
Epidermal nevus with urothelial cancer, somatic 0 0 0 1 0 0 0 1
Familial cancer of breast; Megalencephaly cutis marmorata telangiectatica congenita; Lung cancer; Congenital macrodactylia; Keratosis, seborrheic; Epidermal nevus; Neoplasm of ovary; Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth; Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma 0 0 0 1 0 0 0 1
Gastrointestinal stroma tumor 0 1 0 1 0 0 0 1
Glioblastoma multiforme, somatic 0 0 0 1 0 0 0 1
Head and Neck Neoplasms 0 1 0 1 0 0 0 1
Hereditary cutaneous melanoma 0 0 0 0 0 0 1 1
Histone Methylation Therapy response 0 0 0 0 0 1 0 1
Juvenile polyposis syndrome 0 3 1 0 0 0 0 1
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 1 0 1 0 0 0 1
LEOPARD syndrome 2 0 0 0 1 0 0 0 1
LEOPARD syndrome 2; Noonan syndrome 5; Cardiomyopathy, dilated, 1NN 0 0 0 1 0 0 0 1
Malignant Colorectal Neoplasm 0 1 0 1 0 0 0 1
Medullary thyroid carcinoma 0 0 0 1 0 0 0 1
Meningeal Neoplasms 0 0 0 1 0 0 0 1
Myopathy, congenital, with excess of muscle spindles 0 0 0 1 0 0 0 1
NEVUS SPILUS, SOMATIC 0 0 0 1 0 0 0 1
Neoplasm of ovary 0 7 0 1 0 0 0 1
Neoplasm of the colon 0 0 0 1 0 0 0 1
Nevus, woolly hair 0 0 0 1 0 0 0 1
Non-Hodgkin lymphoma 0 31 0 1 0 0 0 1
Noonan syndrome 5 0 0 0 1 0 0 0 1
Noonan syndrome 6 0 0 0 1 0 0 0 1
Noonan syndrome with multiple lentigines 0 0 0 1 0 0 0 1
Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue 0 0 0 1 0 0 0 1
Prostate neoplasm 0 0 0 1 0 0 0 1
Proteus syndrome 0 0 1 0 0 0 0 1
RAS Inhibitor response 0 0 0 0 0 1 0 1
RAS-associated autoimmune leukoproliferative disorder 0 3 0 1 0 0 0 1
SPITZ NEVUS, SOMATIC 0 0 0 1 0 0 0 1
Sarcoma 0 1 0 1 0 0 0 1
Wilms Tumor 0 0 0 0 0 1 0 1
cetuximab response - Dosage 0 0 0 0 0 1 0 1
panitumumab response - Dosage 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 211
Download table as spreadsheet
HGVS dbSNP
NM_000038.5(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.5(APC):c.3340C>T (p.Arg1114Ter) rs121913331
NM_000038.5(APC):c.4012C>T (p.Gln1338Ter) rs121913327
NM_000038.5(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000077.4(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000314.4(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.6(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.6(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.6(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000516.5(GNAS):c.601C>T (p.Arg201Cys) rs11554273
NM_000516.5(GNAS):c.602G>A (p.Arg201His) rs121913495
NM_000516.5(GNAS):c.602G>T (p.Arg201Leu) rs121913495
NM_000546.5(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.5(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.5(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_000546.5(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.5(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.5(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.5(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.5(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.5(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.5(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.5(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.5(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.5(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.5(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_000546.5(TP53):c.488A>G (p.Tyr163Cys) rs148924904
NM_000546.5(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.5(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.5(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.5(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.5(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_000546.5(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.5(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.5(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.5(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.5(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_000546.5(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_000546.5(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.5(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.5(TP53):c.581T>A (p.Leu194His) rs1057519998
NM_000546.5(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_000546.5(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.5(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.5(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.5(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.5(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.5(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.5(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.5(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.5(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.5(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.5(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.5(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.5(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.5(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.5(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_000546.5(TP53):c.706T>G (p.Tyr236Asp) rs587782289
NM_000546.5(TP53):c.709A>G (p.Met237Val) rs730882004
NM_000546.5(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_000546.5(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.5(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_000546.5(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.5(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.5(TP53):c.716A>C (p.Asn239Thr) rs1057519999
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.5(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.5(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_000546.5(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_000546.5(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.5(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_000546.5(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.5(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.5(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_000546.5(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.5(TP53):c.820G>C (p.Val274Leu) rs1057520005
NM_000546.5(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_000546.5(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_000546.5(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.5(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.5(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.5(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.5(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.5(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.5(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_000546.5(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.5(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.5(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_000546.5(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_001005862.2(ERBB2):c.2173_2174delTTinsCC (p.Leu725Pro) rs121913469
NM_001005862.2(ERBB2):c.2239G>T (p.Val747Leu) rs121913471
NM_001126115.1(TP53):c.401G>A (p.Gly134Glu) rs193920774
NM_001282386.1(IDH1):c.395G>A (p.Arg132His) rs121913500
NM_001282387.1(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_001282387.1(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_001282387.1(IDH1):c.394C>T (p.Arg132Cys) rs121913499
NM_001289910.1(IDH2):c.359G>A (p.Arg120Lys) rs121913503
NM_001289910.1(IDH2):c.359G>T (p.Arg120Met) rs121913503
NM_001904.3(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.3(CTNNB1):c.122C>T (p.Thr41Ile) rs121913413
NM_001904.3(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.3(CTNNB1):c.134C>A (p.Ser45Tyr) rs121913409
NM_001904.3(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_001904.3(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_001904.3(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_001904.3(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_002168.3(IDH2):c.418C>T (p.Arg140Trp) rs267606870
NM_002168.3(IDH2):c.419G>A (p.Arg140Gln) rs121913502
NM_002168.3(IDH2):c.419G>T (p.Arg140Leu) rs121913502
NM_002524.3(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.3(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.3(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.3(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.3(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.3(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.3(NRAS):c.35G>A (p.Gly12Asp) rs121913237
NM_002524.3(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.3(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.4(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.4(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.4(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.4(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.4(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.3(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002834.4(PTPN11):c.1508G>T (p.Gly503Val) rs397507546
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.4(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_004333.4(BRAF):c.1397G>T (p.Gly466Val) rs121913351
NM_004333.4(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.4(BRAF):c.1406G>C (p.Gly469Ala) rs121913355
NM_004333.4(BRAF):c.1406G>T (p.Gly469Val) rs121913355
NM_004333.4(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.4(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.4(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.4(BRAF):c.1786G>C (p.Gly596Arg) rs121913361
NM_004333.5(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.5(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004380.2(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004448.3(ERBB2):c.2524G>A (p.Val842Ile) rs1057519738
NM_004958.3(MTOR):c.6644C>A (p.Ser2215Tyr) rs587777894
NM_004958.3(MTOR):c.6644C>T (p.Ser2215Phe) rs587777894
NM_004985.4(KRAS):c.182A>C (p.Gln61Pro) rs121913240
NM_004985.4(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_004985.4(KRAS):c.351A>C (p.Lys117Asn) rs770248150
NM_004985.4(KRAS):c.35G>A (p.Gly12Asp) rs121913529
NM_004985.4(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.4(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005343.2(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.2(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.2(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.3(HRAS):c.34G>C (p.Gly12Arg) rs104894229
NM_005343.3(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.3(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.3(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005359.5(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.5(SMAD4):c.1157G>A (p.Gly386Asp) rs121912580
NM_005896.3(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_006218.2(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006218.3(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_006218.3(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.3(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.3(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.3(PIK3CA):c.1636C>G (p.Gln546Glu) rs121913286
NM_006218.3(PIK3CA):c.1637A>T (p.Gln546Leu) rs397517201
NM_006218.3(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.3(PIK3CA):c.3129G>T (p.Met1043Ile) rs121913283
NM_006218.3(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.3(PIK3CA):c.317G>T (p.Gly106Val) rs1057519930
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro) rs397517201
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006231.3(POLE):c.857C>G (p.Pro286Arg) rs1057519943
NM_033360.3(KRAS):c.175G>A (p.Ala59Thr) rs121913528
NM_033360.3(KRAS):c.182A>T (p.Gln61Leu) rs121913240
NM_033360.3(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_033360.3(KRAS):c.34G>A (p.Gly12Ser) rs121913530
NM_033360.3(KRAS):c.34G>T (p.Gly12Cys) rs121913530
NM_033360.3(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_033360.3(KRAS):c.38G>A (p.Gly13Asp) rs112445441
NM_033360.3(KRAS):c.38G>T (p.Gly13Val) rs112445441
NM_033632.3(FBXW7):c.1514G>A (p.Arg505His) rs1057519896
NM_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229

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