ClinVar Miner

Variants with conflicting interpretations studied for Rasopathy

Coded as:
Minimum review status of the submission for Rasopathy: Y axis collection method of the submission for Rasopathy:
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
284 211 24 206 100 1 17 299

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
Rasopathy pathogenic likely pathogenic uncertain significance likely benign benign drug response
pathogenic 13 48 2 0 0 0
likely pathogenic 25 0 2 0 0 0
uncertain significance 6 13 0 38 7 1
likely benign 0 0 40 0 55 0
benign 0 0 37 105 11 0

Condition to condition summary #

Total conditions: 77
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
not specified 0 128 10 84 41 0 1 129
not provided 0 203 2 63 48 0 12 117
Noonan syndrome 0 80 1 46 19 0 0 65
Rasopathy 627 122 6 27 10 0 2 45
Noonan syndrome with multiple lentigines 0 7 4 16 10 0 1 31
Cardio-facio-cutaneous syndrome 0 15 0 18 5 0 3 26
Noonan-Like Syndrome Disorder 0 7 0 11 2 0 0 13
Cardiovascular phenotype 0 22 0 8 3 0 1 11
LEOPARD syndrome 1 0 2 8 1 0 0 0 9
Lung adenocarcinoma 0 0 0 7 0 0 1 8
Malignant melanoma of skin 0 0 0 7 0 0 1 8
Multiple myeloma 0 0 0 7 0 0 1 8
Adenocarcinoma of stomach 0 0 0 6 0 0 1 7
Gingival fibromatosis 0 2 0 4 3 0 0 7
Noonan syndrome 1 0 26 1 5 1 0 0 7
Noonan syndrome-like disorder with loose anagen hair 1 0 3 0 5 1 0 1 7
Acute myeloid leukemia 0 1 0 5 0 0 1 6
Cutaneous melanoma 0 3 0 3 0 0 3 6
Malignant neoplasm of body of uterus 0 0 0 5 0 0 1 6
Metachondromatosis 0 0 0 2 4 0 0 6
Neoplasm of the large intestine 0 4 0 5 0 0 1 6
Transitional cell carcinoma of the bladder 0 0 0 5 0 0 1 6
Costello syndrome 0 10 0 4 2 0 0 5
History of neurodevelopmental disorder 0 2 0 4 2 0 0 5
Adenocarcinoma of prostate 0 0 0 4 0 0 0 4
Glioblastoma 0 0 0 3 0 0 1 4
Hepatocellular carcinoma 0 0 0 3 0 0 1 4
Inborn genetic diseases 0 17 0 3 0 0 1 4
Neoplasm of the breast 0 1 0 4 0 0 0 4
Squamous cell carcinoma of the skin 0 0 0 4 0 0 0 4
Chronic lymphocytic leukemia 0 2 0 2 0 0 1 3
Myelodysplastic syndrome 0 0 0 3 0 0 0 3
Nasopharyngeal Neoplasms 0 0 0 2 0 0 1 3
Neoplasm 0 2 0 3 0 0 0 3
Neoplasm of the thyroid gland 0 2 0 3 0 0 0 3
Ovarian Serous Cystadenocarcinoma 0 0 0 2 0 0 1 3
Pancreatic adenocarcinoma 0 0 0 3 0 0 0 3
Squamous cell carcinoma of the head and neck 0 0 0 3 0 0 0 3
Squamous cell lung carcinoma 0 0 0 3 0 0 0 3
Uterine cervical neoplasms 0 0 0 3 0 0 0 3
Adenoid cystic carcinoma 0 0 0 2 0 0 0 2
Carcinoma of esophagus 0 0 0 2 0 0 0 2
Cardiofaciocutaneous syndrome 4 0 3 0 2 0 0 0 2
Non-small cell lung cancer 0 5 0 1 0 0 1 2
Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 0 19 0 1 2 0 0 2
Noonan syndrome 3 0 18 0 1 0 0 1 2
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 0 7 0 1 0 0 1 2
Papillary renal cell carcinoma, sporadic 0 0 0 2 0 0 0 2
Uterine Carcinosarcoma 0 0 0 2 0 0 0 2
Vascular Tumors Including Pyogenic Granuloma 0 0 0 1 0 0 1 2
Acute monocytic leukemia; Acute monoblastic leukemia 0 0 0 0 1 0 0 1
Adrenocortical carcinoma 0 0 0 0 0 0 1 1
Astrocytoma 0 0 0 1 0 0 0 1
B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged 0 0 0 0 1 0 0 1
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 0 1 0 0 1 0 0 1
Bladder carcinoma 0 0 0 1 0 0 0 1
Carcinoma of colon 0 0 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 1 0 9 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 2 0 2 0 1 0 0 0 1
Congenital giant melanocytic nevus 0 0 0 0 0 0 1 1
Congenital giant melanocytic nevus; Epidermal nevus syndrome; Bladder cancer, somatic; Costello syndrome; Epidermal nevus; Follicular thyroid carcinoma 0 2 0 1 0 0 0 1
Craniopharyngioma 0 0 0 0 1 0 0 1
Hematologic neoplasm 0 0 0 1 0 0 0 1
Juvenile myelomonocytic leukemia 0 3 0 0 0 0 1 1
LEOPARD syndrome 3 0 1 0 1 0 0 0 1
Lung cancer 0 1 0 1 0 0 0 1
Malignant germ cell tumor of ovary 0 0 0 0 0 0 1 1
Medulloblastoma 0 0 0 0 1 0 0 1
Neoplasm of brain 0 1 0 0 0 0 1 1
Neuroblastoma 0 2 0 1 0 0 0 1
Neurocutaneous melanosis 0 0 0 0 0 0 1 1
Noonan syndrome 3; Cardiofaciocutaneous syndrome 2 0 0 0 1 0 0 0 1
Noonan syndrome 5 0 3 0 1 0 0 0 1
Noonan syndrome 7 0 3 0 1 0 0 0 1
Primary familial hypertrophic cardiomyopathy 0 3 0 0 0 0 1 1
RAS Inhibitor response 0 0 0 0 0 1 0 1
Renal cell carcinoma, papillary, 1 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 299
Download table as spreadsheet
HGVS dbSNP
NM_002524.3(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.4(NRAS):c.112-8A>G rs9724626
NM_002524.4(NRAS):c.159G>A (p.Leu53=) rs114668710
NM_002524.4(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.4(NRAS):c.225C>T (p.Gly75=) rs142739534
NM_002524.4(NRAS):c.360G>A (p.Leu120=) rs143020946
NM_002524.4(NRAS):c.553C>T (p.Pro185Ser) rs374061873
NM_002755.3(MAP2K1):c.1023-8C>T rs41306345
NM_002755.3(MAP2K1):c.1068+12_1068+15delTATT rs397516788
NM_002755.3(MAP2K1):c.1068+9A>G rs368800650
NM_002755.3(MAP2K1):c.1137C>T (p.Ile379=) rs150841154
NM_002755.3(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.3(MAP2K1):c.237C>T (p.Gly79=) rs148656020
NM_002755.3(MAP2K1):c.315C>T (p.Pro105=) rs144166521
NM_002755.3(MAP2K1):c.438+8A>T rs550240942
NM_002755.3(MAP2K1):c.648C>T (p.Ile216=) rs148968935
NM_002755.3(MAP2K1):c.694-8_694-7dup rs113913469
NM_002755.3(MAP2K1):c.69C>T (p.Thr23=) rs140749690
NM_002755.3(MAP2K1):c.848C>T (p.Ala283Val) rs144080051
NM_002755.3(MAP2K1):c.871A>G (p.Arg291Gly) rs747807884
NM_002755.3(MAP2K1):c.927A>T (p.Ala309=) rs146869577
NM_002834.4(PTPN11):c.1028G>A (p.Arg343Gln) rs535800148
NM_002834.4(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_002834.4(PTPN11):c.1093-9C>A rs12301915
NM_002834.4(PTPN11):c.1281C>T (p.Gly427=) rs753173299
NM_002834.4(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.4(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.4(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.4(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546
NM_002834.4(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.4(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.4(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.4(PTPN11):c.1620C>T (p.His540=) rs587781132
NM_002834.4(PTPN11):c.1650G>A (p.Ala550=) rs374896287
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.166A>G (p.Ile56Val) rs397507504
NM_002834.4(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.4(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_002834.4(PTPN11):c.1746C>T (p.Asn582=) rs397516800
NM_002834.4(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.4(PTPN11):c.182A>C (p.Asp61Ala) rs121918461
NM_002834.4(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.4(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.4(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.4(PTPN11):c.332+17T>G rs115658366
NM_002834.4(PTPN11):c.333-3T>C rs146749153
NM_002834.4(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.4(PTPN11):c.486C>T (p.Asp162=) rs397507522
NM_002834.4(PTPN11):c.48A>G (p.Ala16=) rs372736227
NM_002834.4(PTPN11):c.526-8C>A rs184804143
NM_002834.4(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002834.4(PTPN11):c.558G>T (p.Arg186=) rs200920312
NM_002834.4(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381
NM_002834.4(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.4(PTPN11):c.781C>T (p.Leu261Phe) rs397507525
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.4(PTPN11):c.879C>T (p.His293=) rs117730996
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.4(PTPN11):c.925A>G (p.Ile309Val) rs201787206
NM_002834.4(PTPN11):c.951G>A (p.Lys317=) rs576405446
NM_002834.4(PTPN11):c.990A>C (p.Thr330=) rs369739920
NM_002834.4(PTPN11):c.996C>T (p.Gly332=) rs397507533
NM_002880.3(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.3(RAF1):c.1108+9_1108+21delGGGGCCCTCCCTT rs727504451
NM_002880.3(RAF1):c.1141G>A (p.Asp381Asn) rs559632360
NM_002880.3(RAF1):c.119G>A (p.Arg40His) rs192632236
NM_002880.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_002880.3(RAF1):c.124_125delGCinsAT (p.Ala42Ile) rs876657965
NM_002880.3(RAF1):c.125C>T (p.Ala42Val) rs11549992
NM_002880.3(RAF1):c.1431T>C (p.His477=) rs770034641
NM_002880.3(RAF1):c.1457A>G (p.Asp486Gly) rs397516815
NM_002880.3(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.3(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002880.3(RAF1):c.1668+10_1668+11delTG rs730880997
NM_002880.3(RAF1):c.1668+4A>G rs771344560
NM_002880.3(RAF1):c.1755A>G (p.Val585=) rs3730296
NM_002880.3(RAF1):c.1830A>G (p.Gln610=) rs141791080
NM_002880.3(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.3(RAF1):c.1914G>A (p.Thr638=) rs144876026
NM_002880.3(RAF1):c.212A>G (p.Asn71Ser) rs184022679
NM_002880.3(RAF1):c.391C>T (p.Leu131=) rs878854566
NM_002880.3(RAF1):c.570C>T (p.Ile190=) rs780912024
NM_002880.3(RAF1):c.639T>C (p.Thr213=) rs397516823
NM_002880.3(RAF1):c.66T>G (p.Phe22Leu) rs397516824
NM_002880.3(RAF1):c.680+6T>C rs371846795
NM_002880.3(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.3(RAF1):c.768G>T (p.Arg256Ser) rs397516826
NM_002880.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002880.3(RAF1):c.776C>T (p.Ser259Phe) rs397516827
NM_002880.3(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_002880.3(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_002880.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.3(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_002880.3(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_002880.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_002880.3(RAF1):c.835G>A (p.Asp279Asn) rs368796800
NM_002880.3(RAF1):c.907A>G (p.Thr303Ala) rs775898894
NM_002880.3(RAF1):c.909A>C (p.Thr303=) rs5746219
NM_002880.3(RAF1):c.923C>T (p.Pro308Leu) rs5746220
NM_002880.3(RAF1):c.934G>A (p.Val312Met) rs555034652
NM_002880.3(RAF1):c.935T>C (p.Val312Ala) rs370243307
NM_002880.3(RAF1):c.94A>G (p.Ile32Val) rs372738063
NM_004333.4(BRAF):c.-19C>T rs71645935
NM_004333.4(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.4(BRAF):c.1411G>T (p.Val471Phe) rs121913376
NM_004333.4(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.4(BRAF):c.1802A>C (p.Lys601Thr) rs397507484
NM_004333.4(BRAF):c.2128-4G>T rs956143558
NM_004333.4(BRAF):c.2128-5delT rs373442098
NM_004333.4(BRAF):c.2128-5dupT rs373442098
NM_004333.4(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.4(BRAF):c.723G>A (p.Thr241=) rs369182143
NM_004333.4(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.4(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.5(BRAF):c.1024A>G (p.Ile342Val) rs201481342
NM_004333.5(BRAF):c.1068A>G (p.Gln356=) rs143335467
NM_004333.5(BRAF):c.111G>A (p.Ser37=) rs727502906
NM_004333.5(BRAF):c.1150A>G (p.Arg384Gly) rs545495379
NM_004333.5(BRAF):c.1227A>G (p.Ser409=) rs145035762
NM_004333.5(BRAF):c.1332G>A (p.Arg444=) rs56101602
NM_004333.5(BRAF):c.1383A>G (p.Gln461=) rs56216404
NM_004333.5(BRAF):c.1390G>A (p.Gly464Arg) rs121913349
NM_004333.5(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.5(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.5(BRAF):c.1433-19A>G rs369635503
NM_004333.5(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.5(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.5(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.5(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.5(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.5(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.5(BRAF):c.1992+16G>C rs3789806
NM_004333.5(BRAF):c.2127+3A>G rs371976102
NM_004333.5(BRAF):c.2235A>G (p.Leu745=) rs56046546
NM_004333.5(BRAF):c.36G>A (p.Ala12=) rs397507454
NM_004333.5(BRAF):c.375T>G (p.Ser125=) rs201507202
NM_004333.5(BRAF):c.399A>G (p.Ser133=) rs397507463
NM_004333.5(BRAF):c.483G>C (p.Leu161=) rs61730029
NM_004333.5(BRAF):c.64G>A (p.Asp22Asn) rs397507456
NM_004333.5(BRAF):c.68T>A (p.Met23Lys)
NM_004333.5(BRAF):c.708C>T (p.Asn236=) rs138333692
NM_004333.5(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.5(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_004333.5(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004333.5(BRAF):c.92C>G (p.Ala31Gly) rs397516906
NM_004333.5(BRAF):c.95_100del (p.Gly32_Ala33del) rs397507458
NM_004333.5(BRAF):c.968C>T (p.Ser323Leu) rs397516907
NM_004333.5(BRAF):c.976A>G (p.Ile326Val) rs775040765
NM_004985.4(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.4(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004985.4(KRAS):c.179G>T (p.Gly60Val) rs727503108
NM_004985.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_004985.4(KRAS):c.24A>G (p.Val8=) rs147406419
NM_004985.4(KRAS):c.35G>A (p.Gly12Asp) rs121913529
NM_004985.4(KRAS):c.451-14T>C rs372508498
NM_004985.4(KRAS):c.451-9G>A rs12313763
NM_004985.4(KRAS):c.458A>G (p.Asp153Gly) rs104894360
NM_004985.4(KRAS):c.519T>C (p.Asp173=) rs1137282
NM_004985.4(KRAS):c.531_533delGAA (p.Lys180del) rs397517043
NM_004985.4(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_004985.4(KRAS):c.90C>T (p.Asp30=) rs113623140
NM_005188.2(CBL):c.127_128insACC (p.His42_Leu43insHis) rs373212940
NM_005188.3(CBL):c.1096-4_1096-1delAAAG rs397517077
NM_005188.3(CBL):c.1111T>C (p.Tyr371His) rs267606706
NM_005188.3(CBL):c.1227+4C>T rs201747825
NM_005188.3(CBL):c.1228-2A>G rs727504426
NM_005188.3(CBL):c.125_127delACC (p.His42del) rs373212940
NM_005188.3(CBL):c.1287C>T (p.Ile429=) rs148368481
NM_005188.3(CBL):c.12C>T (p.Asn4=) rs371567712
NM_005188.3(CBL):c.1459A>G (p.Met487Val) rs17848896
NM_005188.3(CBL):c.1485G>A (p.Pro495=) rs2229072
NM_005188.3(CBL):c.1528C>G (p.Pro510Ala) rs538054260
NM_005188.3(CBL):c.1629A>G (p.Pro543=) rs558577411
NM_005188.3(CBL):c.1641T>C (p.Pro547=) rs61755280
NM_005188.3(CBL):c.1647C>A (p.Asp549Glu) rs369030902
NM_005188.3(CBL):c.1858C>T (p.Leu620Phe) rs2227988
NM_005188.3(CBL):c.2036+9G>T rs142704935
NM_005188.3(CBL):c.2052A>C (p.Pro684=) rs886047771
NM_005188.3(CBL):c.2190G>C (p.Thr730=) rs143840974
NM_005188.3(CBL):c.2269G>A (p.Ala757Thr) rs146517083
NM_005188.3(CBL):c.2312A>T (p.Asp771Val) rs199788586
NM_005188.3(CBL):c.2345C>T (p.Pro782Leu) rs2229073
NM_005188.3(CBL):c.2359C>T (p.Arg787Cys) rs143132980
NM_005188.3(CBL):c.2360G>A (p.Arg787His) rs200220863
NM_005188.3(CBL):c.2363G>A (p.Arg788Gln) rs150811339
NM_005188.3(CBL):c.2588A>G (p.Asn863Ser) rs146250423
NM_005188.3(CBL):c.2710G>A (p.Val904Ile) rs17122769
NM_005188.3(CBL):c.513T>C (p.Ser171=) rs2227987
NM_005188.3(CBL):c.801C>G (p.Gly267=) rs727502913
NM_005343.2(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.2(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051
NM_005343.4(HRAS):c.309G>A (p.Val103=) rs575789207
NM_005343.4(HRAS):c.369C>T (p.Arg123=) rs200945755
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424
NM_005343.4(HRAS):c.378A>G (p.Glu126=) rs397517140
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409
NM_005343.4(HRAS):c.510G>A (p.Lys170=) rs397517143
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628
NM_005633.3(SOS1):c.1018C>T (p.Pro340Ser) rs190222208
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.115G>A (p.Glu39Lys)
NM_005633.3(SOS1):c.1202+5A>G rs1021449471
NM_005633.3(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.3(SOS1):c.1269C>G (p.Asn423Lys) rs138459502
NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.3(SOS1):c.1646C>A (p.Thr549Lys) rs730881046
NM_005633.3(SOS1):c.1647A>G (p.Thr549=) rs139683425
NM_005633.3(SOS1):c.1655G>T (p.Arg552Met) rs397517154
NM_005633.3(SOS1):c.1705C>G (p.Leu569Val) rs200786705
NM_005633.3(SOS1):c.1770G>A (p.Glu590=) rs553331572
NM_005633.3(SOS1):c.1772A>G (p.Asn591Ser) rs757213444
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.3(SOS1):c.2010G>C (p.Leu670Phe) rs200712930
NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) rs140811086
NM_005633.3(SOS1):c.2156G>C (p.Gly719Ala) rs200794965
NM_005633.3(SOS1):c.2167+6T>G rs186640807
NM_005633.3(SOS1):c.2238T>C (p.Asn746=) rs75877625
NM_005633.3(SOS1):c.2371C>A (p.Leu791Ile) rs142004123
NM_005633.3(SOS1):c.2760G>A (p.Arg920=) rs149092581
NM_005633.3(SOS1):c.2791+7_2791+10delATTT rs760707217
NM_005633.3(SOS1):c.280A>G (p.Ile94Val) rs144757941
NM_005633.3(SOS1):c.2966G>A (p.Arg989Lys) rs202043599
NM_005633.3(SOS1):c.2997T>C (p.Asn999=) rs145364368
NM_005633.3(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671
NM_005633.3(SOS1):c.3072C>T (p.Leu1024=) rs558386297
NM_005633.3(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.3(SOS1):c.3391+7A>G rs201982464
NM_005633.3(SOS1):c.345+12_345+13dupCT rs397517167
NM_005633.3(SOS1):c.350T>G (p.Val117Gly) rs201085754
NM_005633.3(SOS1):c.3600C>G (p.Asp1200Glu) rs141594736
NM_005633.3(SOS1):c.3709C>A (p.Pro1237Thr) rs371408734
NM_005633.3(SOS1):c.3729C>G (p.Asp1243Glu) rs730881026
NM_005633.3(SOS1):c.39A>G (p.Glu13=) rs763337946
NM_005633.3(SOS1):c.512T>G (p.Val171Gly) rs397517174
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005633.3(SOS1):c.570C>T (p.Asp190=) rs55980502
NM_005633.3(SOS1):c.643T>C (p.Tyr215His) rs730881039
NM_005633.3(SOS1):c.698A>G (p.Asn233Ser) rs144934321
NM_005633.3(SOS1):c.73C>T (p.Pro25Ser) rs139592595
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_007373.3(SHOC2):c.10A>C (p.Ser4Arg) rs397517231
NM_007373.3(SHOC2):c.1161+9A>G rs201795589
NM_007373.3(SHOC2):c.1302C>T (p.Asn434=) rs146147503
NM_007373.3(SHOC2):c.1423-7C>T rs180671383
NM_007373.3(SHOC2):c.1540+8C>T rs771283010
NM_007373.3(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534
NM_007373.3(SHOC2):c.38A>C (p.Glu13Ala) rs730881018
NM_007373.3(SHOC2):c.457C>T (p.Leu153=) rs34081996
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_007373.3(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_007373.3(SHOC2):c.610A>G (p.Ile204Val) rs200015085
NM_007373.3(SHOC2):c.842-3C>T rs1485718634
NM_007373.3(SHOC2):c.973-5delT rs730881016
NM_030662.3(MAP2K2):c.*8C>T rs377675706
NM_030662.3(MAP2K2):c.1074G>A (p.Ala358=) rs140896887
NM_030662.3(MAP2K2):c.1093-6T>C rs369681843
NM_030662.3(MAP2K2):c.1112G>A (p.Arg371Gln) rs730880514
NM_030662.3(MAP2K2):c.1140C>T (p.Ala380=) rs146618055
NM_030662.3(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241
NM_030662.3(MAP2K2):c.1194C>T (p.Thr398=) rs144850779
NM_030662.3(MAP2K2):c.207C>T (p.Asp69=) rs199850535
NM_030662.3(MAP2K2):c.240G>A (p.Ala80=) rs543217722
NM_030662.3(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799
NM_030662.3(MAP2K2):c.33G>A (p.Ala11=) rs368233443
NM_030662.3(MAP2K2):c.395G>A (p.Gly132Asp) rs387906800
NM_030662.3(MAP2K2):c.39C>T (p.Thr13=) rs752951050
NM_030662.3(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.3(MAP2K2):c.498C>T (p.Pro166=) rs139404261
NM_030662.3(MAP2K2):c.525C>T (p.Ile175=) rs150833333
NM_030662.3(MAP2K2):c.535C>T (p.Arg179Trp) rs370799450
NM_030662.3(MAP2K2):c.546G>A (p.Ala182=) rs141402203
NM_030662.3(MAP2K2):c.580+6G>A rs201435249
NM_030662.3(MAP2K2):c.603C>T (p.Leu201=) rs148291450
NM_030662.3(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_030662.3(MAP2K2):c.678C>T (p.Ser226=) rs200874968
NM_030662.3(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511
NM_030662.3(MAP2K2):c.784G>A (p.Val262Ile) rs138873805
NM_030662.3(MAP2K2):c.813C>T (p.Asp271=) rs201726622
NM_030662.3(MAP2K2):c.823C>T (p.Leu275=) rs145934142
NM_030662.3(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980
NM_030662.3(MAP2K2):c.93-6C>T rs727504836
NM_030662.3(MAP2K2):c.981C>T (p.Asn327=) rs143275018
NM_033360.3(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229

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