| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Microcephaly |
Pathogenic |
rs1751797979 |
RCV001252943 |
| Microcephaly 26, primary, autosomal dominant |
Likely pathogenic; Pathogenic |
rs2479520123, rs1750497172, rs1245844735, rs935132421, rs1751587092, rs1750506249 |
RCV003153029 RCV001292578 RCV001292579 RCV001292576 RCV001292580 RCV001292581 |
| Syndrome with microcephaly as major feature |
Pathogenic |
rs1750497172, rs1245844735, rs935132421, rs1751587092 |
RCV001254641 RCV001254642 RCV001254640 RCV001254643 |
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs74480742, rs6867254 |
RCV005916508 RCV005921612 |
| Adult-onset autosomal dominant demyelinating leukodystrophy |
Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity |
rs376081850, rs74640805, rs757576125, rs34224885, rs748056618, rs765894554, rs372142905, rs867579692, rs561989552, rs886059858, rs6875053, rs755177047, rs74362780, rs886059859, rs140296800, rs185784874, rs761208282, rs77429268, rs200907573, rs372510778, rs181936031, rs111865788, rs886059857, rs142016804, rs746416284, rs201050320, rs1051643, rs1051644, rs2479404161, rs2230151, rs36105360, rs3749830, rs61726489, rs1371898314, rs755396585, rs771251880, rs575662572, rs374998378, rs1751792373, rs994236399, rs150504258, rs370551700, rs1752249694, rs1021872186, rs550205958, rs960666703, rs569902214, rs1382551348, rs1294635743, rs765920630, rs1205547665 View all (36 more) |
RCV001334424 RCV002501846 RCV005397078 RCV000294151 RCV002466949 RCV005254737 RCV003333616 RCV003338060 RCV000263750 RCV000395495 RCV000356354 RCV000295130 RCV000333700 RCV000339403 RCV000259722 RCV000386736 RCV000271365 RCV000382569 RCV000346610 RCV000384885 RCV000329948 RCV000316347 RCV000373329 RCV000791125 RCV000305501 RCV000395587 RCV000369546 RCV000277393 RCV000328799 RCV003990662 RCV000298597 RCV000299258 RCV000386109 RCV000345073 RCV001155358 RCV001155359 RCV001157047 RCV001157048 RCV001157049 RCV001157050 RCV001157051 RCV001253966 RCV001154643 RCV001154644 RCV001154645 RCV001154646 RCV001155478 RCV001155479 RCV001155480 RCV001155481 RCV001253965 RCV001198634 |
| Cervical cancer |
Likely benign; Conflicting classifications of pathogenicity |
rs182569011, rs370551700 |
RCV005935592 RCV005913940 |
| Cholangiocarcinoma |
Benign |
rs6867254 |
RCV005921615 |
| Gastric cancer |
Benign |
rs74480742 |
RCV005916510 |
| Leukodystrophy, Adult-Onset |
Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign |
rs780324372, rs886059852, rs886059853, rs886059854, rs35091677, rs763586250, rs554454508, rs886059851, rs62391732, rs138982187, rs573576730, rs201308997, rs886059855, rs886059856, rs190689756 |
RCV000280096 RCV000397776 RCV000295564 RCV000361970 RCV000397765 RCV000363219 RCV000401968 RCV000335252 RCV000350508 RCV000264862 RCV000308589 RCV000304925 RCV000322264 RCV000356167 RCV000367531 |
| LMNB1-related disorder |
Benign; Likely benign; Uncertain significance |
rs540123967, rs780849458, rs368823823, rs748388376, rs2479520553, rs778185749, rs375873636, rs182569011, rs77877457, rs1230042682 |
RCV003911282 RCV003903781 RCV003420400 RCV003434754 RCV003402808 RCV003414412 RCV003909298 RCV003964633 RCV003975674 RCV003923310 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs74480742, rs6867254 |
RCV005916509 RCV005921613 |
| Thymoma |
Benign |
rs74480742 |
RCV005916512 |
| Uterine carcinosarcoma |
Benign |
rs74480742, rs6867254 |
RCV005916511 RCV005921614 |
| Uterine corpus endometrial carcinoma |
Benign |
rs74480742 |
RCV005916513 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate |
32149105 |
| Adenomatous Polyposis Coli |
Associate |
19845967 |
| Agenesis of Corpus Callosum |
Associate |
32910914 |
| Ameloblastoma |
Associate |
25991665 |
| Ataxia |
Associate |
26053668 |
| Ataxia Telangiectasia |
Stimulate |
22246186 |
| Autosomal Recessive Primary Microcephaly |
Associate |
32910914, 33033404 |
| Breast Neoplasms |
Associate |
24293108, 32705365, 33948615, 34237080 |
| Breast Neoplasms |
Stimulate |
34459389 |
| Carcinoma Hepatocellular |
Stimulate |
30897324, 34810266, 35436411 |
| Carcinoma Hepatocellular |
Associate |
34511484, 36405011 |
| Central Nervous System Diseases |
Associate |
23873483 |
| Central Nervous System Vascular Malformations |
Associate |
23733478 |
| Cirrhosis Cryptogenic |
Associate |
30878663 |
| Colonic Diseases |
Inhibit |
10517909 |
| Colorectal Neoplasms |
Inhibit |
10517909, 29115590 |
| Colorectal Neoplasms |
Associate |
20846378, 24732130, 39390002 |
| Demyelinating Diseases |
Associate |
23873483, 35247231 |
| Down Syndrome |
Associate |
37451904 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
24990611 |
| Dystonia |
Associate |
34438319 |
| Endometriosis |
Associate |
35269619, 36277723, 39411815 |
| Esophageal Neoplasms |
Associate |
34511484 |
| Gastrointestinal Neoplasms |
Associate |
10517909 |
| Genetic Diseases Inborn |
Associate |
23873483 |
| Glioma |
Associate |
33956061 |
| Growth Disorders |
Associate |
32910914 |
| Heredodegenerative Disorders Nervous System |
Associate |
26053668, 35247231 |
| Intellectual Disability |
Associate |
32910914 |
| Laminopathies |
Associate |
29753763, 33033404, 36461070 |
| Leukemia |
Associate |
24990611 |
| Leukemia Myeloid Acute |
Associate |
32161403, 35395184 |
| Leukemia Prolymphocytic T Cell |
Associate |
28804121 |
| Leukodystrophy Metachromatic |
Associate |
23261988, 23439683, 23649844, 23873483, 26053668, 30192380, 32910914, 33034697 |
| Lung Neoplasms |
Associate |
10517909 |
| Lupus Erythematosus Systemic |
Associate |
12384929 |
| Lymphoma |
Associate |
28804121 |
| Lymphoma B Cell |
Associate |
28804121 |
| Lymphoma Follicular |
Associate |
28804121 |
| Lymphoma Non Hodgkin |
Associate |
36945359 |
| Melanoma |
Associate |
35883595 |
| Microcephaly |
Associate |
32910914 |
| Microcephaly autosomal dominant |
Associate |
32910914 |
| Mitochondrial Diseases |
Associate |
30692212 |
| Mouth Diseases |
Associate |
35269619 |
| Muscular Dystrophy Congenital Megaconial Type |
Associate |
37448194 |
| Myelodysplastic Syndromes |
Associate |
35395184 |
| Neoplasm Metastasis |
Associate |
34459389, 35436411, 39390002 |
| Neoplasms |
Associate |
23934658, 32987785, 34511484, 34639214, 34810266, 35395184, 35436411, 36461070 |
| Neoplasms |
Inhibit |
27449096 |
| Neural Tube Defects |
Associate |
23733478 |
| Neuroaxonal Dystrophies |
Associate |
35247231 |
| Oncogene Addiction |
Associate |
22246186 |
| Osteoarthritis |
Associate |
25797039 |
| Pelger Huet Anomaly |
Associate |
35395184 |
| Progeria |
Associate |
23439683 |
| Progeria |
Inhibit |
23873483 |
| Progeroid syndrome neonatal |
Associate |
37451904 |
| Prostatic Neoplasms |
Associate |
31306099, 34511484 |
| Pulmonary Disease Chronic Obstructive |
Inhibit |
30692212 |
| Sarcoma |
Stimulate |
35356902 |
| Sarcoma Ewing |
Associate |
39367409 |
| Spastic Paraplegia Hereditary |
Associate |
26053668 |
| Spinal Cord Diseases |
Associate |
26053668 |
| Stomach Neoplasms |
Inhibit |
10517909 |
| Stomach Neoplasms |
Associate |
27449096 |
| Thrombosis |
Associate |
12384929 |
| Urinary Bladder Neoplasms |
Associate |
35685866 |
| Uterine Cervical Neoplasms |
Associate |
34511484 |
|