| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| - |
no classification for the single variant |
rs387906988 |
- |
| Autosomal dominant non-syndromic intellectual disability |
Uncertain significance |
rs2471173119 |
RCV003315152 |
| Glioma susceptibility 1 |
Likely benign |
rs145790169 |
RCV005931474 |
| Myoclonic epilepsy |
Uncertain significance |
rs2076627525, rs762399074 |
RCV001784138 RCV001837285 |
| Myoclonic epilepsy, progressive, X-linked |
Conflicting classifications of pathogenicity |
rs139747674 |
RCV000987284 |
| Ovarian serous cystadenocarcinoma |
Likely benign |
rs748395499 |
RCV005921029 |
| PRICKLE2-associated epilepsy syndrome |
Uncertain significance |
rs2077107723 |
RCV002227690 |
| PRICKLE2-related disorder |
Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
rs116353694, rs1016920348, rs148689951, rs769615303, rs2471101105, rs144455095, rs149786687, rs143141434 |
RCV003915159 RCV003906478 RCV003977483 RCV003964561 RCV003926939 RCV003960222 RCV003925740 RCV003948264 |
| Progressive myoclonic epilepsy |
Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance |
rs116353694, rs2306380, rs17720698, rs34460293, rs27673, rs727504106, rs146538069, rs180903875, rs200220646, rs571451772, rs153732, rs746249344, rs14056, rs544825776, rs759645403, rs530804190, rs27383, rs62249881, rs866060288, rs886058788, rs886058791, rs26939, rs886058793, rs886058794, rs779719872, rs886058800, rs567814417, rs750990245, rs142388795, rs886058802, rs538069337, rs886058784, rs756531877, rs72874609, rs34723451, rs886058787, rs35969433, rs12494731, rs56262708, rs550841859, rs886058789, rs62249882, rs558482444, rs879297640, rs17069879, rs17069880, rs752334583, rs535354956, rs886058795, rs886058797, rs148724634, rs886058799, rs745530308, rs771168722, rs144338942, rs150393747, rs867607794, rs697287, rs190966782, rs886058782, rs140931283, rs886058786, rs153730, rs153733, rs886058781, rs886058783, rs886058785, rs528929996, rs386661734, rs545276442, rs26938, rs570616523, rs886058790, rs886058792, rs26937, rs886058796, rs370988517, rs35195442, rs886058801, rs886058803, rs886058804, rs139238137, rs886058807, rs370569305, rs886058798, rs569115082, rs886058805, rs886058806, rs550234814, rs139747674, rs202170644, rs144455095, rs367680077, rs202025796, rs773493989, rs144757200, rs749232741, rs368904012, rs772691573, rs1056419773, rs750274826, rs981163962, rs1404217716, rs575410668, rs186186236, rs1389084658, rs2076548758, rs153731, rs574878914, rs904907709, rs140681630, rs977486642, rs538054092, rs1358772449, rs2076560882, rs143062140, rs2076562693, rs911667034, rs531639386, rs1045343958, rs1345198796, rs2076573078, rs140420417, rs905971725, rs184544359, rs192971326, rs2076579772, rs577636282, rs377752523, rs938048041, rs2076586208, rs1405669224, rs2076586727, rs2076588182, rs934193331, rs952345194, rs764784009, rs111362297, rs953505615, rs528463950, rs142263776, rs575414554, rs766757910, rs2076619261, rs763974341, rs1162884450, rs2077471398, rs780089157, rs148888682, rs901964486, rs536662179, rs539401922, rs2079012814, rs1044268884, rs143342419, rs2079017666, rs113321925 View all (142 more) |
RCV000271916 RCV000294317 RCV000338421 RCV000268645 RCV000323664 RCV000349185 RCV001149705 RCV001148150 RCV001149606 RCV000264229 RCV000279392 RCV000374943 RCV000405886 RCV000310632 RCV000317375 RCV000293051 RCV000333957 RCV000288851 RCV000289826 RCV000404256 RCV000297193 RCV000356675 RCV000381276 RCV000283106 RCV000279446 RCV000366463 RCV000278685 RCV000405710 RCV000343791 RCV000403839 RCV000280389 RCV000295542 RCV000396119 RCV000362009 RCV000263457 RCV000318683 RCV000387204 RCV000387885 RCV000343745 RCV000340116 RCV000360262 RCV000331328 RCV000367219 RCV000326703 RCV000291649 RCV000327988 RCV000377942 RCV000342743 RCV000334557 RCV000299408 RCV000314524 RCV000307217 RCV000322488 RCV000377171 RCV000373198 RCV000314151 RCV000358924 RCV000375253 RCV000379157 RCV000334450 RCV000396133 RCV000365561 RCV000302600 RCV000324049 RCV000378575 RCV000349507 RCV000345793 RCV000266932 RCV000403993 RCV000353581 RCV000262084 RCV000305181 RCV000394841 RCV000277401 RCV000378669 RCV000404748 RCV000349463 RCV000397673 RCV000374414 RCV000308829 RCV000263938 RCV000359903 RCV000331128 RCV000369227 RCV000270834 RCV000305121 RCV000260519 RCV000316034 RCV000261850 RCV001149703 RCV001147251 RCV001147249 RCV001148151 RCV001149704 RCV001147253 RCV001145306 RCV001145307 RCV001145305 RCV001145308 RCV001151093 RCV001151094 RCV001144987 RCV001144988 RCV001144989 RCV001146940 RCV001146941 RCV001146942 RCV001147846 RCV001147847 RCV001147848 RCV001147849 RCV001149386 RCV001149387 RCV001149388 RCV001149389 RCV001149390 RCV001149391 RCV001149392 RCV001145091 RCV001145092 RCV001145093 RCV001145094 RCV001147050 RCV001147051 RCV001147937 RCV001147938 RCV001147939 RCV001149480 RCV001149481 RCV001149482 RCV001149483 RCV001145194 RCV001145195 RCV001145196 RCV001147152 RCV001147153 RCV001147154 RCV001147155 RCV001148052 RCV001148053 RCV001149602 RCV001149603 RCV001149604 RCV001149605 RCV001149607 RCV001145304 RCV001147250 RCV001147252 RCV001148152 RCV001149706 RCV001145393 RCV001145394 RCV001145395 RCV001145396 RCV001145397 RCV001147328 RCV001147329 RCV001148261 |
| Seizure |
Uncertain significance |
rs372232760 |
RCV000781985 |
| Self-limited epilepsy with centrotemporal spikes |
Conflicting classifications of pathogenicity |
rs202170644 |
RCV000655990 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
Conflicting classifications of pathogenicity |
rs387906989 |
RCV000679893 |
| Thyroid cancer, nonmedullary, 1 |
Uncertain significance |
rs1447125975 |
RCV005931253 |
|