| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Abnormal facial shape |
Pathogenic; Likely pathogenic |
rs797044916, rs797044870, rs864309721, rs1064795845, rs1553196100, rs1553196096, rs1553196101, rs1553196134, rs1553196539 |
RCV001291420 RCV001291422 RCV001291421 RCV001291419 RCV001291424 RCV001291423 RCV001291425 RCV001291426 RCV001291162 |
| Abnormality of blood and blood-forming tissues |
Pathogenic; Likely pathogenic |
rs797044916, rs797044870, rs864309721, rs1064795845, rs1553196100, rs1553196096, rs1553196101, rs1553196134, rs1553196539 |
RCV001291420 RCV001291422 RCV001291421 RCV001291419 RCV001291424 RCV001291423 RCV001291425 RCV001291426 RCV001291162 |
| Abnormality of the immune system |
Pathogenic; Likely pathogenic |
rs797044916, rs797044870, rs864309721, rs1064795845, rs1553196100, rs1553196096, rs1553196101, rs1553196134, rs1553196539 |
RCV001291420 RCV001291422 RCV001291421 RCV001291419 RCV001291424 RCV001291423 RCV001291425 RCV001291426 RCV001291162 |
| CDC42-associated inflammatory disease |
Pathogenic |
rs2522255954 |
RCV005417362 |
| CDC42-related disorder |
Pathogenic; Likely pathogenic |
rs797044916, rs2522255949 |
RCV004739574 RCV003335877 |
| Familial hemophagocytic lymphohistiocytosis |
Pathogenic |
rs2522255954 |
RCV006249826 |
| Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome |
Pathogenic; Likely pathogenic |
rs797044916, rs797044870, rs864309721, rs1645663483, rs1064795845, rs1553196100, rs1553196096, rs1553196101, rs1553196539, rs1570024112 |
RCV002509288 RCV000601199 RCV000203307 RCV003458288 RCV000601771 RCV000604971 RCV001332038 RCV000611080 RCV000607619 RCV000824997 |
| Neurodevelopmental abnormality |
Pathogenic; Likely pathogenic |
rs797044916, rs797044870, rs864309721, rs1064795845, rs1553196100, rs1553196096, rs1553196101, rs1553196134, rs1553196539 |
RCV001291420 RCV001291422 RCV001291421 RCV001291419 RCV001291424 RCV001291423 RCV001291425 RCV001291426 RCV001291162 |
| Neurodevelopmental disorder |
Pathogenic |
rs797044916 |
RCV001374925 |
| Noonan-like syndrome |
Pathogenic |
rs1553196539 |
RCV000577848 |
| Postnatal growth retardation |
Pathogenic; Likely pathogenic |
rs797044916, rs797044870, rs864309721, rs1064795845, rs1553196100, rs1553196096, rs1553196101, rs1553196134, rs1553196539 |
RCV001291420 RCV001291422 RCV001291421 RCV001291419 RCV001291424 RCV001291423 RCV001291425 RCV001291426 RCV001291162 |
| See cases |
Likely pathogenic |
rs2124053783 |
RCV001420290 |
|
| Disease Name |
Relationship Type |
References |
| Aarskog Syndrome |
Associate |
12771149, 21356349 |
| Adams Oliver syndrome |
Associate |
27693507, 36059114 |
| Adenocarcinoma of Lung |
Associate |
32733636 |
| Adenoma |
Stimulate |
37365287 |
| Adenomatous Polyposis Coli |
Associate |
17145773 |
| Anophthalmos with limb anomalies |
Associate |
21565291 |
| Arthritis Rheumatoid |
Associate |
27498552 |
| Asthenozoospermia |
Associate |
23174138 |
| Asthma |
Associate |
28479334, 36194662 |
| Atrial Fibrillation |
Associate |
35003319 |
| Autoimmune Diseases |
Associate |
35104386, 35527674, 36952639 |
| Band Heterotopia of Brain |
Associate |
33672558 |
| Breast Neoplasms |
Associate |
17356711, 17538024, 23420497, 23975422, 25273174, 29971782, 30420728, 35087170, 36077333, 37511111 |
| Breast Neoplasms |
Inhibit |
28423712, 29994716 |
| Carcinogenesis |
Associate |
22589722, 25208761, 27100492, 28035419, 28282856, 32231661 |
| Carcinoma Hepatocellular |
Associate |
23894465, 25472720, 30543848, 33380242, 35340237 |
| Carcinoma Hepatocellular |
Stimulate |
28282856 |
| Carcinoma Non Small Cell Lung |
Associate |
26462147, 32841053 |
| Carcinoma Non Small Cell Lung |
Stimulate |
34952984 |
| Carcinoma Ovarian Epithelial |
Associate |
26391404, 30795761, 32901852 |
| Carcinoma Pancreatic Ductal |
Associate |
32376602 |
| Carcinoma Papillary |
Associate |
30171198 |
| Carcinoma Renal Cell |
Associate |
23521319 |
| Carcinoma Squamous Cell |
Associate |
28204826 |
| Cerebral Infarction |
Inhibit |
23696594 |
| Cleft Lip |
Associate |
34024335 |
| Cleft Palate |
Inhibit |
34024335 |
| Cognitive Dysfunction |
Associate |
37581646 |
| Colitis Ulcerative |
Inhibit |
35527674 |
| Colonic Neoplasms |
Associate |
21943101, 23144867 |
| Colonic Polyps |
Associate |
37365287 |
| Colorectal Neoplasms |
Associate |
15309713, 22543585, 23144867, 24817781, 27769041, 31262449, 32139668, 37950620 |
| Colorectal Neoplasms |
Stimulate |
35735582 |
| Coronary Artery Disease |
Inhibit |
31886261 |
| Developmental Disabilities |
Associate |
29394990, 30290153, 37501076 |
| Diabetes Mellitus Type 2 |
Associate |
33149760 |
| Diabetic Nephropathies |
Associate |
21752957, 23902294 |
| Dyserythropoietic Anemia with Thrombocytopenia |
Associate |
36952639 |
| Esophageal Neoplasms |
Associate |
33484472 |
| Esophageal Squamous Cell Carcinoma |
Associate |
24025765, 25400770, 27120794, 32139664, 32901852, 36112883 |
| Facial Dysmorphism with Multiple Malformations |
Associate |
29394990, 32231661 |
| Fetal Growth Retardation |
Inhibit |
31825077 |
| Fibrosis |
Associate |
35176481 |
| Gait Ataxia |
Associate |
30290153 |
| Genetic Diseases Inborn |
Associate |
33672558 |
| Glioblastoma |
Associate |
23677714, 29207169, 39390804 |
| Glioma |
Associate |
28035419, 36870986 |
| Glomerulonephritis |
Associate |
26986510 |
| Glucosephosphate Dehydrogenase Deficiency |
Associate |
33171523 |
| Growth Disorders |
Stimulate |
24762475 |
| Growth Disorders |
Associate |
29394990 |
| Head and Neck Neoplasms |
Associate |
20345482 |
| Hearing Loss |
Associate |
33809266 |
| Heart Diseases |
Associate |
32303876 |
| Hematologic Diseases |
Associate |
32231661, 32303876, 34504210 |
| Hematologic Neoplasms |
Associate |
29394990 |
| Hepatitis C |
Associate |
33785040 |
| Hereditary Autoinflammatory Diseases |
Associate |
32231661, 37581646 |
| Hernia Inguinal |
Associate |
31910207 |
| HIV Infections |
Inhibit |
15574879 |
| Hodgkin Disease |
Associate |
32231661 |
| Hypersensitivity Delayed |
Associate |
32231661 |
| Hypopharyngeal Neoplasms |
Associate |
35484886 |
| Hypoxia |
Associate |
21357506, 24762475 |
| Hypoxia |
Stimulate |
32671953 |
| Idiopathic Pulmonary Fibrosis |
Inhibit |
33402146 |
| Immunologic Deficiency Syndromes |
Associate |
32231661 |
| Immunologic Deficiency Syndromes |
Stimulate |
37019085 |
| Infections |
Associate |
32231661, 33672558, 37581646, 40353220 |
| Inflammation |
Associate |
28479334, 29921325, 35527674 |
| Inflammatory Bowel Diseases |
Associate |
30581272 |
| Leiomyoma |
Associate |
16854417 |
| Leukoencephalopathies |
Associate |
39202455 |
| Lung Neoplasms |
Associate |
19154401, 26462147, 28204826, 34321041 |
| Lymphatic Metastasis |
Stimulate |
34952984 |
| Lymphohistiocytosis Hemophagocytic |
Associate |
32231661, 37581646 |
| Lymphopenia |
Associate |
37581646 |
| Megalencephaly |
Associate |
30290153 |
| Melanoma |
Stimulate |
10587647 |
| Melanoma |
Associate |
12482591, 18835169, 27347659, 30582770, 37114375, 38008393 |
| Melanoma Cutaneous Malignant |
Associate |
27347659 |
| Menkes Kinky Hair Syndrome |
Associate |
27685868 |
| Mesothelioma Malignant |
Associate |
29845703 |
| Metabolic Syndrome |
Inhibit |
26004609 |
| Microcephaly |
Associate |
37501076 |
| Microvillus inclusion disease |
Associate |
26526116 |
| Muscle Neoplasms |
Associate |
36194662 |
| Myocardial Infarction |
Stimulate |
35537778 |
| Myotonic Dystrophy |
Associate |
30667325 |
| Nasopharyngeal Carcinoma |
Associate |
22589722 |
| Necrosis |
Associate |
19430526 |
| Neoplasm Metastasis |
Associate |
15309713, 19154401, 26462147, 28281966, 32139668, 33946672, 34952984, 37024613 |
| Neoplasm Metastasis |
Inhibit |
23420497 |
| Neoplasms |
Associate |
10480914, 10587647, 12482591, 15928809, 18541705, 18835169, 19416857, 19568410, 20067638, 21295525, 24025765, 24747643, 25097177, 25379703, 25400770, 26071482, 26339654, 26462147, 27248291, 27289231, 27341132, 28035419, 28282856, 28859048, 29994716, 30504808, 32139668, 32143485, 32231661, 32901852, 33171523, 34374417, 34782370, 34952984, 36369429, 36792578, 36936942, 37024613, 37114375, 37950620 View all (25 more) |
| Nephrosis congenital |
Associate |
26986510 |
| Neurilemmoma |
Associate |
19409384 |
| Neuroblastoma |
Associate |
15350548, 28860601 |
| Neuroblastoma |
Stimulate |
25264923 |
| Neurofibromatosis Noonan syndrome |
Associate |
30290153 |
| Non alcoholic Fatty Liver Disease |
Associate |
26845596 |
| Noonan Syndrome |
Associate |
29394990 |
| Obesity |
Associate |
28479334, 36194662 |
| Osteoarthritis |
Associate |
31886203 |
| Ovarian Cysts |
Associate |
16854417 |
| Ovarian Diseases |
Associate |
16854417 |
| Ovarian Neoplasms |
Associate |
22610942, 26071482, 31262449 |
| Pancreatic Neoplasms |
Associate |
23426533, 27145964, 29853638, 32232899, 34782370 |
| Pancreatitis |
Associate |
27100492 |
| Pancytopenia |
Associate |
33672558 |
| Parkinson Disease |
Associate |
22135858 |
| Pneumonia |
Associate |
15574879 |
| Primary Immunodeficiency Diseases |
Associate |
32265901 |
| Primary Myelofibrosis |
Associate |
27341078, 32303876 |
| Proteinuria |
Associate |
26986510 |
| Psoriasis |
Associate |
33416099 |
| Pulmonary Disease Chronic Obstructive |
Associate |
36221429 |
| Seizures |
Associate |
30290153 |
| Severe Combined Immunodeficiency |
Associate |
32265901 |
| Smoke Inhalation Injury |
Associate |
28816646 |
| Spondylitis Ankylosing |
Associate |
35104386 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
25405202 |
| Squamous Intraepithelial Lesions |
Stimulate |
28859048 |
| Stomach Diseases |
Associate |
36356476 |
| Stomach Neoplasms |
Associate |
32679742, 34650666, 36064550, 36356476, 36631800, 36792578, 38336288 |
| Stroke |
Inhibit |
23696594 |
| Thrombocytopenia |
Associate |
37581646 |
| Thrombocytopenia 1 |
Associate |
20130240 |
| Thyroid Cancer Papillary |
Associate |
17296934 |
| Trichohepatoenteric Syndrome |
Associate |
26526116 |
| Triple Negative Breast Neoplasms |
Associate |
33205415, 35087170, 36077333, 36693952 |
| Uterine Cervical Neoplasms |
Associate |
30962261, 36929174 |
| Wiskott Aldrich Syndrome |
Associate |
10953003, 16246732, 18393378, 27685868 |
| Wiskott Aldrich Syndrome |
Stimulate |
23455509 |
| X Linked Combined Immunodeficiency Diseases |
Associate |
37581646 |
|