| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| KIF11-related disorder |
Likely pathogenic; Pathogenic |
rs2492536774, rs1844462368 |
RCV003402518 RCV003396636 |
| Lymphedema |
Likely pathogenic |
rs1057518980 |
RCV000415366 |
| Malignant tumor of urinary bladder |
Pathogenic |
rs1554863201 |
RCV005899877 |
| Microcephaly |
Pathogenic; Likely pathogenic |
rs1554863201, rs1057518980 |
RCV001720283 RCV000415366 |
| Microcephaly and chorioretinopathy 1 |
Pathogenic |
rs2492536872 |
RCV001527631 |
| Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) |
Pathogenic |
rs730882122 |
RCV001270814 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability |
Likely pathogenic; Pathogenic |
rs1844845643, rs2135900558, rs2135905068, rs1844462612, rs2135904919, rs2135901156, rs2135923459, rs2135923352, rs2135902435, rs2135923477, rs2135923421, rs2135904871, rs2135925601, rs2492519143, rs2492520861, rs2492525408, rs730882121, rs730882122, rs1472205853, rs2492490344, rs2492476596, rs786205900, rs797045649, rs797045650, rs797045651, rs2492475559, rs2492490361, rs2492528918, rs2492543409, rs2492476656, rs2492482259, rs2492515124, rs2492480959, rs2492512589, rs2492525042, rs1057516208, rs1057524736, rs387906641, rs730882061, rs730882062, rs730882063, rs1064796738, rs1554859309, rs1554859966, rs1554862197, rs1554862218, rs1554863016, rs1554863201, rs1554862427, rs1227480400, rs1554863246, rs1564713037, rs1589595589, rs1589608594, rs1589600695, rs1589590737, rs1589591659, rs1844907904, rs2492454012, rs2492481008, rs2492482275, rs2492536798, rs2492536872, rs2492536937, rs527562872, rs2492536331, rs1844750166, rs1844517913 View all (53 more) |
RCV001331253 RCV003314007 RCV003485716 RCV001775280 RCV001823032 RCV001843708 RCV002226859 RCV002250890 RCV002250948 RCV002250971 RCV005869764 RCV002273123 RCV002273127 RCV002284016 RCV002289094 RCV002290242 RCV000161138 RCV000161139 RCV002466878 RCV002468726 RCV002472078 RCV000172876 RCV000172877 RCV000192737 RCV000193017 RCV000193886 RCV002789990 RCV002789991 RCV003226073 RCV003330301 RCV003494070 RCV003494079 RCV003986048 RCV003988698 RCV003988930 RCV004588571 RCV000408821 RCV003225941 RCV000022634 RCV000022635 RCV000022637 RCV000022638 RCV000678377 RCV000501993 RCV000500129 RCV000501841 RCV000503314 RCV000502364 RCV000578314 RCV000544300 RCV001255733 RCV000585854 RCV000825016 RCV001007655 RCV000988434 RCV000995792 RCV001030780 RCV001002700 RCV001198017 RCV001255743 RCV001255789 RCV001255842 RCV001255729 RCV001255840 RCV001255829 RCV001255779 RCV001255834 RCV001261950 RCV001283810 |
| Neurodevelopmental delay |
Likely pathogenic; Pathogenic |
rs2135905068 |
RCV002274195 |
| Neurodevelopmental disorder |
Likely pathogenic |
rs2135904903 |
RCV002277694 |
| Retinal dysplasia |
Likely pathogenic |
rs1057518980 |
RCV000415366 |
| Retinal dystrophy |
Likely pathogenic; Pathogenic |
rs1227480400, rs1844909478, rs1844615558, rs1844944116 |
RCV004817776 RCV001075451 RCV001074293 RCV001074664 |
| Retinitis pigmentosa |
Pathogenic |
rs2135925949 |
RCV001724869 |
| Syndromic retinitis pigmentosa |
Likely pathogenic; Pathogenic |
rs1589590737 |
RCV001003069 |
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign; Likely benign |
rs7067733, rs12248860, rs75382300, rs75876570, rs148976883 |
RCV005912975 RCV005918849 RCV005925302 RCV005892317 RCV005906467 |
| Cervical cancer |
Benign; Likely benign |
rs7067733, rs540078122, rs187038614, rs113197692 |
RCV005912976 RCV005914743 RCV005916313 RCV005920435 |
| Clear cell carcinoma of kidney |
Likely benign |
rs148976883 |
RCV005906469 |
| CTCF-related neurodevelopmental disorder |
Conflicting classifications of pathogenicity |
rs1589597598 |
RCV001838339 |
| Decreased total lymphocyte count |
Likely benign; Benign |
rs147164679, rs200188195 |
RCV002227522 RCV002227504 |
| Decreased total neutrophil count |
Likely benign; Benign |
rs147164679, rs200188195 |
RCV002227522 RCV002227504 |
| Developmental disorder |
Uncertain significance |
rs2492480944 |
RCV003127308 |
| Exudative vitreoretinopathy 1 |
Conflicting classifications of pathogenicity |
rs1554861545 |
RCV003987579 |
| Familial cancer of breast |
Uncertain significance; Likely benign |
rs778431479, rs187038614 |
RCV005911088 RCV005916311 |
| Gastric cancer |
Likely benign; Benign |
rs187038614, rs12248860, rs148976883, rs200188195 |
RCV005916315 RCV005918850 RCV005906470 RCV005907508 |
| Hereditary ataxia |
Conflicting classifications of pathogenicity |
rs201865099 |
RCV005626306 |
| Intellectual disability |
Likely benign |
rs1844750557 |
RCV001252290 |
| Long QT syndrome |
Likely benign |
rs796052144 |
RCV000190130 |
| Lung cancer |
Benign; Likely benign |
rs12248860, rs75876570 |
RCV005918854 RCV005892318 |
| Malignant tumor of esophagus |
Likely benign; Benign |
rs187038614, rs75382300, rs148976883 |
RCV005916312 RCV005925303 RCV005906468 |
| Melanoma |
Likely benign |
rs148976883 |
RCV005906471 |
| Optic atrophy |
Conflicting classifications of pathogenicity |
rs200410468 |
RCV004813964 |
| Ovarian serous cystadenocarcinoma |
Benign; Likely benign |
rs12248860, rs200188195 |
RCV005918851 RCV005907509 |
| Sarcoma |
Benign; Likely benign |
rs7067733, rs540078122, rs187038614, rs75382300 |
RCV005912977 RCV005914744 RCV005916314 RCV005925304 |
| Thymoma |
Benign; Likely benign |
rs7067733, rs187038614, rs12248860, rs10882089, rs75382300 |
RCV005912979 RCV005916317 RCV005918853 RCV005924805 RCV005925306 |
| Uterine carcinosarcoma |
Benign; Likely benign |
rs7067733, rs187038614, rs12248860, rs10882089, rs75382300 |
RCV005912978 RCV005916316 RCV005918852 RCV005924804 RCV005925305 |
| Uterine corpus endometrial carcinoma |
Benign |
rs7067733, rs113197692 |
RCV005912980 RCV005920436 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Stimulate |
37330525 |
| Adenocarcinoma of Lung |
Associate |
37619315 |
| Aicardi Syndrome |
Associate |
39187757 |
| Albinism |
Associate |
39596324 |
| Allan Herndon Dudley syndrome |
Associate |
36611072 |
| Alzheimer Disease |
Associate |
23036584 |
| Arthritis Rheumatoid |
Associate |
32840301, 34079550 |
| Astigmatism |
Associate |
39187757 |
| Ataxia Telangiectasia |
Associate |
35782055 |
| Attention Deficit Disorder with Hyperactivity |
Associate |
35052433 |
| Auditory Perceptual Disorders |
Associate |
35052433 |
| Brain Neoplasms |
Associate |
38256095 |
| Breast Neoplasms |
Associate |
32210727, 32346924, 32616754, 33285689, 34675265 |
| Carcinogenesis |
Associate |
18845538, 21303978, 35403252, 35782055, 36742345 |
| Carcinoma Adenoid Cystic |
Associate |
31914060 |
| Carcinoma Hepatocellular |
Associate |
28684886, 28901309, 33111935, 34257537, 34359867, 36120772 |
| Carcinoma Large Cell |
Associate |
28993508 |
| Carcinoma Non Small Cell Lung |
Associate |
28101582, 31805030, 34825846 |
| Carcinoma Pancreatic Ductal |
Associate |
35403252, 35619540 |
| Carcinoma Renal Cell |
Associate |
30819726, 35979754 |
| Carcinoma Squamous Cell |
Associate |
28993508 |
| Cataract |
Associate |
39187757 |
| Cholangiocarcinoma |
Associate |
36123339 |
| Chorioretinitis |
Associate |
22653704, 35456519, 36672954 |
| Ciliopathies |
Associate |
39596324 |
| Colorectal Neoplasms |
Associate |
34575892, 36611072 |
| COVID 19 |
Associate |
33839760, 36389792, 36856850 |
| Diabetes Mellitus Type 2 |
Associate |
19862325, 22506066, 22998375 |
| Diabetic Retinopathy |
Associate |
28821857, 32290826 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
32346924 |
| Ependymoma |
Associate |
20885975 |
| Epilepsy |
Associate |
24281367 |
| Esotropia |
Associate |
39187757 |
| Eye Abnormalities |
Associate |
24281367 |
| Familial Exudative Vitreoretinopathies |
Associate |
27212378, 30181612, 33137195, 34128965, 34526760, 34860240, 34924743, 35456519, 35876299, 37089697 |
| Fever |
Associate |
33537819 |
| Genomic Instability |
Associate |
34575892 |
| Glioblastoma |
Associate |
28993509, 33491154 |
| Glioma |
Associate |
33491154, 35774141 |
| Gyrate Atrophy |
Associate |
39596324 |
| Heart Diseases |
Associate |
24281367 |
| Hematologic Neoplasms |
Inhibit |
16627469 |
| Hepatitis B |
Associate |
33102593, 33376723 |
| HIV Infections |
Associate |
36389792 |
| Hypertensive Retinopathy |
Associate |
35456519, 36672954 |
| Hypoxia |
Associate |
34526760 |
| Insulin Resistance |
Associate |
22998375 |
| Intellectual Disability |
Associate |
25934493, 25996076, 27212378, 37089697, 39187757 |
| Laryngeal Neoplasms |
Associate |
35312942 |
| Learning Disabilities |
Associate |
24281367 |
| Liver Cirrhosis |
Associate |
28684886 |
| Lung Neoplasms |
Associate |
28993508, 32831194 |
| Lupus Erythematosus Systemic |
Associate |
34079550 |
| Lymphedema |
Associate |
22284827, 22653704, 25996076, 27212378, 39187757 |
| Lymphoma Non Hodgkin |
Associate |
36945359 |
| Mesothelioma Malignant |
Associate |
27279560 |
| Microcephaly |
Associate |
22284827, 22653704, 24281367, 25934493, 27212378, 30181612, 33137195, 37089697 |
| Microcephaly autosomal dominant |
Associate |
22284827 |
| Microcephaly with Chorioretinopathy Autosomal Dominant |
Associate |
22284827, 33137195, 39187757 |
| Mouth Neoplasms |
Associate |
29115586 |
| Multiple Myeloma |
Associate |
16627469 |
| Myopia |
Associate |
29346494 |
| Neoplasm Metastasis |
Associate |
36611072 |
| Neoplasms |
Associate |
23034402, 24074379, 24222652, 25277178, 28993508, 30819726, 33491154, 34359867, 34575892, 35164221, 35619540 |
| Neoplasms |
Stimulate |
36742345 |
| Neuroectodermal Tumors Primitive |
Associate |
36524840 |
| Neurofibrosarcoma |
Associate |
37837931 |
| Norrie disease |
Associate |
35328049, 37089697 |
| Ovarian Neoplasms |
Associate |
31871312, 31987036, 32693821, 34253236 |
| Pancreatic Neoplasms |
Associate |
21986572, 35403252 |
| Parkinson Disease |
Associate |
18845538 |
| Peripheral Nervous System Diseases |
Associate |
35456519 |
| Peripheral Vascular Diseases |
Associate |
34128965 |
| Pituitary Neoplasms |
Associate |
24222652 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate |
37656243 |
| Prostate Cancer Hereditary 7 |
Associate |
25277178 |
| Prostatic Neoplasms |
Associate |
20515952, 25277178 |
| Retinal Cone Dystrophy 1 |
Associate |
39596324 |
| Retinal Detachment |
Associate |
34128965, 34526760, 36672954 |
| Retinal Diseases |
Associate |
25996076, 33137195 |
| Retinal Dystrophies |
Associate |
39596324 |
| Retinitis |
Associate |
35456519, 36672954 |
| Retinoblastoma |
Associate |
33217867 |
| Simpson Golabi Behmel syndrome |
Associate |
22998375 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
35312942 |
| Stomach Neoplasms |
Associate |
31683688, 33537819, 35164221, 35421138 |
| Sveinsson Chorioretinal Atrophy |
Associate |
31077665, 33137195 |
| Syndrome |
Associate |
25996076 |
| Thyroid Carcinoma Anaplastic |
Associate |
33025856 |
| Tongue Diseases |
Associate |
22653704 |
| Triple Negative Breast Neoplasms |
Associate |
34582664 |
| Urinary Bladder Neoplasms |
Associate |
22361733, 35669725 |
| Urinary Bladder Neoplasms |
Stimulate |
33217824 |
| Uterine Cervical Neoplasms |
Associate |
30816541 |
| Vision Disorders |
Associate |
36672954 |
| von Hippel Lindau Disease |
Associate |
30819726 |
| Xeroderma Pigmentosum |
Associate |
35977011 |
|