| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia with NPM1 somatic mutations |
Uncertain significance |
rs2496938228 |
RCV006254352 |
| B lymphoblastic leukemia lymphoma with hyperdiploidy |
Uncertain significance |
rs143034856 |
RCV000761157 |
| Central nervous system germ cell tumor |
Conflicting classifications of pathogenicity |
rs1303812580 |
RCV006254312 |
| Cervical cancer |
Benign |
rs2276083 |
RCV005901588 |
| Clear cell carcinoma of kidney |
Benign |
rs2229072, rs77284821 |
RCV005889982 RCV005889986 |
| Diffuse midline glioma, H3 K27M-mutant |
Uncertain significance |
rs1303812580 |
RCV006254199 |
| Epilepsy, early-onset |
Uncertain significance |
rs946817829 |
RCV002266595 |
| Gastric cancer |
Likely benign; Benign |
rs147160530, rs2229072, rs2276083 |
RCV005919141 RCV005889983 RCV005901591 |
| Germinoma |
Uncertain significance |
rs2135303712 |
RCV006254309 |
| Growth failure in early childhood |
Conflicting classifications of pathogenicity |
rs374515645 |
RCV006436410 |
| Hepatosplenomegaly |
Conflicting classifications of pathogenicity |
rs763058208 |
RCV002286418 |
| Hereditary cancer-predisposing syndrome |
Benign; Likely benign; Conflicting classifications of pathogenicity |
rs17122769, rs373212940, rs142704935 |
RCV005251065 RCV005394540 RCV005251104 |
| Intellectual disability |
Conflicting classifications of pathogenicity |
rs587777540 |
RCV005621881 |
| Left ventricular noncompaction cardiomyopathy |
Uncertain significance |
rs372452974 |
RCV000853162 |
| Lung cancer |
Benign |
rs2229072, rs77284821 |
RCV005889984 RCV005889987 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs2276083 |
RCV005901589 |
| Malignant tumor of esophagus |
Benign |
rs2276083 |
RCV005901587 |
| Microcephaly |
Uncertain significance |
rs1949969949 |
RCV001252854 |
| Myeloproliferative disorder |
Conflicting classifications of pathogenicity |
rs267606708 |
RCV003447475 |
| Noonan-like syndrome |
Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign |
rs758396206, rs57028199, rs555529036, rs886047787, rs79093187, rs886047800, rs886047814, rs3833768, rs572265582, rs878976124, rs777761446, rs397958007, rs549459958, rs541615597, rs112360309, rs886047763, rs371850672, rs886047782, rs886047785, rs376134331, rs563997189, rs527849757, rs373212940, rs397517078, rs1414848678 View all (10 more) |
RCV000343387 RCV000335228 RCV000372293 RCV000390705 RCV000263494 RCV000306792 RCV000325380 RCV000304904 RCV000392319 RCV000402775 RCV000282354 RCV000324954 RCV000323170 RCV000303771 RCV000374493 RCV000300042 RCV000359684 RCV000273037 RCV000277530 RCV000263896 RCV000365475 RCV000370641 RCV000280443 RCV000393761 RCV000321364 RCV000327907 RCV000363796 RCV000363899 RCV000278774 RCV000405234 RCV001270817 |
| Sarcoma |
Benign |
rs2276083 |
RCV005901590 |
| Thymoma |
Benign |
rs2276083 |
RCV005901593 |
| Uterine carcinosarcoma |
Benign |
rs2276083 |
RCV005901592 |
| Uterine corpus endometrial carcinoma |
Uncertain significance; Benign |
rs751529479, rs77284821, rs2276083 |
RCV005928782 RCV005889988 RCV005901594 |
|
| Disease Name |
Relationship Type |
References |
| Acrocephalosyndactylia |
Associate |
17003487 |
| Anemia Refractory |
Associate |
20678218 |
| Arthritis Rheumatoid |
Associate |
40594127 |
| Autoimmune Diseases |
Associate |
30807392 |
| Autoimmune Lymphoproliferative Syndrome |
Associate |
30807392 |
| Bone Diseases |
Associate |
30674869 |
| Breast Neoplasms |
Associate |
17255943, 27842510, 28415719, 29145193, 29498809 |
| Calcinosis Cutis |
Associate |
35940046 |
| Carcinogenesis |
Associate |
23621189, 27244893, 30355600 |
| Carcinoma Hepatocellular |
Associate |
22860012, 26474280, 31976317, 36749775 |
| Carcinoma Non Small Cell Lung |
Associate |
20126411, 29364514, 35309168 |
| Cardiofaciocutaneous syndrome |
Associate |
20694012 |
| Cell Transformation Viral |
Associate |
22138511 |
| Chromosome 7 monosomy |
Associate |
22733026 |
| Chromosome Disorders |
Associate |
24147083 |
| Chylothorax |
Associate |
25358541 |
| Chylothorax congenital |
Associate |
25358541 |
| Colorectal Neoplasms |
Associate |
22074469, 26206335 |
| Congenital Abnormalities |
Associate |
25939664 |
| Coronavirus Infections |
Associate |
33968364 |
| Costello Syndrome |
Associate |
20694012 |
| Cryptorchidism |
Associate |
20694012, 25952305 |
| Cyclic neutropenia |
Associate |
34413458 |
| Death |
Associate |
33779075 |
| Developmental Disabilities |
Associate |
20694012, 30355600 |
| Edema |
Associate |
25358541 |
| Evans Syndrome |
Associate |
30940614 |
| Gaucher Disease |
Associate |
21098288 |
| Glioma |
Associate |
32322592, 34433654, 34998158, 35027542 |
| Graves Disease |
Inhibit |
39239096 |
| Growth Disorders |
Associate |
20543203, 20694012 |
| Heart Diseases |
Associate |
25952305 |
| Hernia Inguinal |
Associate |
31910207 |
| Histiocytic Sarcoma |
Associate |
30626916 |
| HIV Infections |
Associate |
15892963 |
| Hydrops Fetalis |
Associate |
25358541 |
| Hypereosinophilic Syndrome |
Associate |
27174585 |
| Hypertensive Retinopathy |
Associate |
37711606 |
| Hypomagnesemia primary |
Associate |
35470277 |
| Jacobsen Distal 11q Deletion Syndrome |
Associate |
22138511 |
| Keratosis Seborrheic |
Associate |
36610814 |
| Kidney Diseases |
Associate |
36282402 |
| Kininogen Deficiency High Molecular Weight and Low Molecular Weight |
Associate |
37846894 |
| Learning Disabilities |
Associate |
20543203 |
| Legius syndrome |
Associate |
20694012 |
| Leukemia |
Associate |
25939664, 26676746, 33617900, 37199372, 8900225 |
| Leukemia Lymphocytic Chronic B Cell |
Associate |
17116127 |
| Leukemia Megakaryoblastic Acute |
Associate |
22122069 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate |
19901108, 21346257 |
| Leukemia Myeloid |
Associate |
20678218, 21346257 |
| Leukemia Myeloid Acute |
Associate |
16982329, 17475912, 18974118, 19901108, 20678218, 22131879, 22138511, 22912701, 22929312, 24493670, 25932436, 27983727, 29227476, 37199372, 40280316 |
| Leukemia Myeloid Chronic Atypical BCR ABL Negative |
Associate |
19387008 |
| Leukemia Myelomonocytic Chronic |
Associate |
19074904, 19387008, 19901108, 20008299, 20880116, 21828135, 22138511, 22511494, 22733026, 24817963, 26648538, 33108455, 33512474, 39298477, 40415500 |
| Leukemia Myelomonocytic Juvenile |
Associate |
19571318, 19901108, 20008299, 20408841, 20543203, 20694012, 20955399, 22753870, 22773603, 23696637, 24493670, 25358541, 25939664, 25952305, 26316488, 26457647, 29884903, 30096712, 30803559, 30807392, 32933826, 33375775, 34716204, 39298477 View all (9 more) |
| Leukemia Neutrophilic Chronic |
Associate |
33822276 |
| Leukemia Prolymphocytic T Cell |
Associate |
17116127 |
| Leukocytosis |
Associate |
39298477 |
| Lung Neoplasms |
Associate |
18505685, 20126411, 23621189, 37328769 |
| Lupus Erythematosus Systemic |
Associate |
11086108, 17195233, 23434382 |
| Lymphoma |
Associate |
27805921 |
| Lymphoma B Cell |
Associate |
25358541 |
| Lymphoma T Cell Cutaneous |
Associate |
25140833, 27805921 |
| Lymphoma T Cell Cutaneous |
Stimulate |
25666675 |
| Mastocytosis Systemic |
Associate |
22905207, 23958953, 27214377 |
| Melanoma |
Associate |
31773704, 35940046, 36543142 |
| Meningeal Neoplasms |
Associate |
32711494 |
| Methylmalonic acidemia |
Associate |
1671869 |
| Mixed Tumor Malignant |
Associate |
34531437 |
| Multiple Pterygium Syndrome Autosomal Dominant |
Associate |
30803559 |
| Mycosis Fungoides |
Stimulate |
27805921 |
| Myelodysplastic Myeloproliferative Diseases |
Associate |
19074904, 21346257, 22733026, 39337700 |
| Myelodysplastic Syndromes |
Associate |
19074904, 20678218, 22131879, 22138511, 23300180, 25428262, 29618722, 31772163, 36380727 |
| Nasal Polyps |
Associate |
32047813 |
| Nasopharyngeal Carcinoma |
Associate |
28827787 |
| Neoplasm Metastasis |
Associate |
20126411, 30429477, 32711494, 36543142 |
| Neoplasms |
Associate |
17255943, 19074904, 19387008, 19901108, 20126411, 20619386, 21173100, 22511494, 22733026, 23025505, 23279575, 23621189, 24147083, 25592571, 25952305, 26676746, 27244893, 30803559, 33375775, 33507258, 33512474, 34413458, 34661724, 34911786, 34998158, 36543142 View all (11 more) |
| Neoplasms Germ Cell and Embryonal |
Associate |
24896186 |
| Neurofibromatosis 1 |
Associate |
20694012 |
| Noonan like syndrome |
Associate |
25358541, 34716204 |
| Noonan Syndrome |
Associate |
20619386, 20694012, 25952305 |
| Optic atrophy X linked |
Associate |
24463883 |
| Osteogenesis Imperfecta |
Associate |
21596750 |
| Platelet Disorder Familial with Associated Myeloid Malignancy |
Associate |
22138511 |
| Pleural Effusion |
Associate |
25358541 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate |
23025505, 36380727 |
| Primary Immunodeficiency Diseases |
Associate |
30940614, 34786962 |
| Primary Myelofibrosis |
Associate |
19387008, 22511494, 30622146, 32777067, 33666653, 34911786, 37846894 |
| Prostatic Neoplasms |
Associate |
19002168 |
| Rhabdomyosarcoma |
Associate |
34095712 |
| Rhabdomyosarcoma Embryonal |
Associate |
30803559 |
| Sarcoma Kaposi |
Associate |
21937638 |
| Sezary Syndrome |
Associate |
27805921 |
| Skin Diseases |
Associate |
27805921 |
| Splenomegaly |
Associate |
39298477 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
23621189, 27244893, 32064753 |
| Stomach Neoplasms |
Associate |
20038312, 21725207, 22262855, 28972304 |
| Syndrome |
Associate |
20543203 |
| Thyroid Cancer Papillary |
Associate |
25803323, 34531437 |
| Thyroid Diseases |
Inhibit |
39239096 |
| Thyroid Nodule |
Associate |
34531437 |
| Transcobalamin I Deficiency |
Associate |
7342493 |
| Uniparental Disomy |
Associate |
19074904, 19387008, 20008299, 23696637, 24147083, 33375775 |
| Urinary Bladder Neoplasms |
Associate |
40594127 |
| Uterine Cervical Neoplasms |
Associate |
38537385 |
| Vasculitis |
Associate |
20694012 |
| Venous Thromboembolism |
Associate |
34381164 |
|