| 405282586 | CV3213008 | single nucleotide variant | NM_001320.7(CSNK2B):c.-1G>C | CSNK2B-related disorder [RCV003957109] | likely benign | 6 | 31666831 | 31666831 | Human | | name , trait , alternate_id |
| 150476460 | CV1239883 | single nucleotide variant | NM_001320.7(CSNK2B):c.*31A>T | not provided [RCV001652060] | benign | 6 | 31669957 | 31669957 | Human | | name |
| 150430387 | CV1242962 | single nucleotide variant | NM_001320.7(CSNK2B):c.*104C>T | not provided [RCV001662895] | benign | 6 | 31670030 | 31670030 | Human | | name |
| 153001466 | CV1319626 | single nucleotide variant | NM_001320.7(CSNK2B):c.73-1G>A | Poirier-Bienvenu neurodevelopmental syndrome [RCV002255105]|not provided [RCV005416545] | pathogenic|likely pathogenic | 6 | 31667867 | 31667867 | Human | 1 | name |
| 151729482 | CV1517674 | single nucleotide variant | NM_001320.7(CSNK2B):c.72+2T>G | Autosomal dominant non-syndromic intellectual disability [RCV002052288] | likely pathogenic | 6 | 31666905 | 31666905 | Human | 1 | name |
| 156435017 | CV2403304 | single nucleotide variant | NM_001320.7(CSNK2B):c.72+1G>T | Autism spectrum disorder [RCV003127240] | likely pathogenic | 6 | 31666904 | 31666904 | Human | 2 | name |
| 13532200 | CV511652 | single nucleotide variant | NM_001320.7(CSNK2B):c.73-2A>G | Inborn genetic diseases [RCV000624000]|Poirier-Bienvenu neurodevelopmental syndrome [RCV004797842] | pathogenic|likely pathogenic | 6 | 31667866 | 31667866 | Human | 2 | name |
| 40886685 | CV973536 | single nucleotide variant | NM_001320.7(CSNK2B):c.72+1G>A | Inborn genetic diseases [RCV001265893]|Poirier-Bienvenu neurodevelopmental syndrome [RCV001732100]|not provided [RCV004727061] | pathogenic|likely pathogenic | 6 | 31666904 | 31666904 | Human | 2 | name |
| 126726432 | CV1016713 | single nucleotide variant | NM_001320.7(CSNK2B):c.292-2A>C | Poirier-Bienvenu neurodevelopmental syndrome [RCV001331966] | pathogenic|likely pathogenic | 6 | 31669095 | 31669095 | Human | 1 | name |
| 150335700 | CV1165782 | single nucleotide variant | NM_001320.7(CSNK2B):c.292-2A>T | not provided [RCV001531621] | pathogenic|likely pathogenic | 6 | 31669095 | 31669095 | Human | | name |
| 150467817 | CV1269295 | single nucleotide variant | NM_001320.7(CSNK2B):c.72+78G>A | not provided [RCV001694703] | benign | 6 | 31666981 | 31666981 | Human | | name |
| 150452490 | CV1275270 | single nucleotide variant | NM_001320.7(CSNK2B):c.367+6T>C | Poirier-Bienvenu neurodevelopmental syndrome [RCV001706783] | uncertain significance | 6 | 31669178 | 31669178 | Human | 1 | name |
| 150547745 | CV1292166 | single nucleotide variant | NM_001320.7(CSNK2B):c.367+1G>A | Poirier-Bienvenu neurodevelopmental syndrome [RCV001733825] | pathogenic | 6 | 31669173 | 31669173 | Human | 1 | name |
| 150557121 | CV1310460 | single nucleotide variant | NM_001320.7(CSNK2B):c.292-2A>G | Poirier-Bienvenu neurodevelopmental syndrome [RCV001775388] | pathogenic|likely pathogenic | 6 | 31669095 | 31669095 | Human | 1 | name |
| 151234543 | CV1320311 | single nucleotide variant | NM_001320.7(CSNK2B):c.557+1G>A | not provided [RCV001799935] | pathogenic | 6 | 31669509 | 31669509 | Human | | name |
| 152041110 | CV1519456 | single nucleotide variant | NM_001320.7(CSNK2B):c.291+1G>T | Poirier-Bienvenu neurodevelopmental syndrome [RCV002071022] | likely pathogenic | 6 | 31668655 | 31668655 | Human | 1 | name |
| 243065094 | CV2409590 | single nucleotide variant | NM_001320.7(CSNK2B):c.557+1G>C | Poirier-Bienvenu neurodevelopmental syndrome [RCV003143862] | likely pathogenic | 6 | 31669509 | 31669509 | Human | 1 | name |
| 243055741 | CV2416056 | single nucleotide variant | NM_001320.7(CSNK2B):c.291+5G>C | Poirier-Bienvenu neurodevelopmental syndrome [RCV003149116] | likely pathogenic | 6 | 31668659 | 31668659 | Human | 1 | name |
| 401907172 | CV2800129 | single nucleotide variant | NM_001320.7(CSNK2B):c.175+1G>A | CSNK2B-related disorder [RCV003397265]|Poirier-Bienvenu neurodevelopmental syndrome [RCV004798041] | pathogenic|likely pathogenic | 6 | 31667971 | 31667971 | Human | 1 | name , trait , alternate_id |
| 407500597 | CV3495526 | single nucleotide variant | NM_001320.7(CSNK2B):c.367+1G>C | not provided [RCV004697366] | pathogenic | 6 | 31669173 | 31669173 | Human | | name |
| 408377677 | CV3501618 | single nucleotide variant | NM_001320.7(CSNK2B):c.558-2A>G | not provided [RCV004727677] | pathogenic | 6 | 31669834 | 31669834 | Human | | name |
| 408370070 | CV3507772 | single nucleotide variant | NM_001320.7(CSNK2B):c.558-2A>C | CSNK2B-related disorder [RCV004739039] | likely pathogenic | 6 | 31669834 | 31669834 | Human | | name , trait , alternate_id |
| 596921923 | CV3535552 | single nucleotide variant | NM_001320.7(CSNK2B):c.291+1G>A | Poirier-Bienvenu neurodevelopmental syndrome [RCV004785107] | pathogenic|likely pathogenic | 6 | 31668655 | 31668655 | Human | 1 | name |
| 598199513 | CV3892559 | single nucleotide variant | NM_001320.7(CSNK2B):c.292-1G>A | not provided [RCV005254392] | pathogenic | 6 | 31669096 | 31669096 | Human | | name |
| 598160247 | CV3959418 | single nucleotide variant | NM_001320.7(CSNK2B):c.291+2T>C | Inborn genetic diseases [RCV005328731] | uncertain significance | 6 | 31668656 | 31668656 | Human | 1 | name |
| 616940231 | CV4014741 | single nucleotide variant | NM_001320.7(CSNK2B):c.176-2A>C | not provided [RCV005414235] | pathogenic | 6 | 31668537 | 31668537 | Human | | name |
| 14746803 | CV672066 | deletion | NM_001320.7(CSNK2B):c.367+5del | Poirier-Bienvenu neurodevelopmental syndrome [RCV002221588]|Seizure [RCV000845042]|not provided [RCV001560828] | pathogenic|likely pathogenic|not provided | 6 | 31669177 | 31669177 | Human | 5 | name |
| 21068688 | CV794103 | single nucleotide variant | NM_001320.7(CSNK2B):c.175+2T>G | Poirier-Bienvenu neurodevelopmental syndrome [RCV000993565]|not provided [RCV004818102] | pathogenic | 6 | 31667972 | 31667972 | Human | 1 | name |
| 21068821 | CV794108 | single nucleotide variant | NM_001320.7(CSNK2B):c.368-2A>G | Poirier-Bienvenu neurodevelopmental syndrome [RCV000993570] | pathogenic | 6 | 31669317 | 31669317 | Human | 1 | name |
| 21405279 | CV800763 | single nucleotide variant | NM_001320.7(CSNK2B):c.367+2T>C | Poirier-Bienvenu neurodevelopmental syndrome [RCV001003349] | pathogenic | 6 | 31669174 | 31669174 | Human | 1 | name |
| 150459690 | CV1236130 | single nucleotide variant | NM_001320.7(CSNK2B):c.-11-28A>C | not provided [RCV001649101] | benign | 6 | 31666793 | 31666793 | Human | | name |
| 155730783 | CV1780891 | single nucleotide variant | NM_001320.7(CSNK2B):c.558-11C>T | not specified [RCV002308681] | uncertain significance | 6 | 31669825 | 31669825 | Human | | name |
| 150334013 | CV1171547 | single nucleotide variant | NM_001320.7(CSNK2B):c.292-132A>G | not provided [RCV001539744] | benign | 6 | 31668965 | 31668965 | Human | 2 | name |
| 405275105 | CV3204640 | single nucleotide variant | NM_001320.7(CSNK2B):c.6C>T (p.Ser2=) | CSNK2B-related disorder [RCV003952045] | likely benign | 6 | 31666837 | 31666837 | Human | | name , trait , alternate_id |
| 150507320 | CV1244536 | single nucleotide variant | NM_001320.7(CSNK2B):c.2T>G (p.Met1Arg) | not provided [RCV001658785] | pathogenic | 6 | 31666833 | 31666833 | Human | | name |
| 408380555 | CV3501198 | single nucleotide variant | NM_001320.7(CSNK2B):c.3G>A (p.Met1Ile) | Poirier-Bienvenu neurodevelopmental syndrome [RCV005250354]|not provided [RCV004727286] | pathogenic|likely pathogenic | 6 | 31666834 | 31666834 | Human | 1 | name |
| 597716181 | CV3733244 | duplication | NM_001320.7(CSNK2B):c.19dup (p.Val7fs) | not provided [RCV005052434] | pathogenic | 6 | 31666848 | 31666849 | Human | | name |
| 13794617 | CV553382 | single nucleotide variant | NM_001320.7(CSNK2B):c.2T>A (p.Met1Lys) | not provided [RCV000681657] | likely pathogenic | 6 | 31666833 | 31666833 | Human | | name |
| 38467344 | CV920754 | single nucleotide variant | NM_001320.7(CSNK2B):c.1A>G (p.Met1Val) | Poirier-Bienvenu neurodevelopmental syndrome [RCV004726946]|not provided [RCV001200288] | pathogenic|likely pathogenic | 6 | 31666832 | 31666832 | Human | 1 | name |
| 155644502 | CV1707962 | duplication | NM_001320.7(CSNK2B):c.99dup (p.Phe34fs) | Poirier-Bienvenu neurodevelopmental syndrome [RCV002289423] | likely pathogenic | 6 | 31667891 | 31667892 | Human | 1 | name |
| 243050093 | CV2419557 | single nucleotide variant | NM_001320.7(CSNK2B):c.27G>A (p.Trp9Ter) | not provided [RCV003156489] | pathogenic | 6 | 31666858 | 31666858 | Human | | name |
| 401920485 | CV2822884 | single nucleotide variant | NM_001320.7(CSNK2B):c.13G>T (p.Glu5Ter) | not provided [RCV003431756] | pathogenic | 6 | 31666844 | 31666844 | Human | | name |
| 405291599 | CV3205899 | single nucleotide variant | NM_001320.7(CSNK2B):c.252C>T (p.His84=) | CSNK2B-related disorder [RCV003964014] | likely benign | 6 | 31668615 | 31668615 | Human | | name , trait , alternate_id |
| 405293128 | CV3221287 | single nucleotide variant | NM_001320.7(CSNK2B):c.292T>C (p.Leu98=) | CSNK2B-related disorder [RCV003966810] | likely benign | 6 | 31669097 | 31669097 | Human | | name , trait , alternate_id |
| 15176524 | CV721949 | single nucleotide variant | NM_001320.7(CSNK2B):c.108T>A (p.Leu36=) | not provided [RCV000884603] | benign | 6 | 31667903 | 31667903 | Human | | name |
| 127244291 | CV1053753 | single nucleotide variant | NM_001320.7(CSNK2B):c.91C>T (p.Gln31Ter) | Poirier-Bienvenu neurodevelopmental syndrome [RCV001376051] | pathogenic | 6 | 31667886 | 31667886 | Human | 1 | name |
| 150429453 | CV1189209 | duplication | NM_001320.7(CSNK2B):c.268dup (p.Thr90fs) | CSNK2B-related intellectual disability with or without epilepsy [RCV001563630] | pathogenic | 6 | 31668630 | 31668631 | Human | | name , trait |
| 150432262 | CV1236701 | deletion | NM_001320.7(CSNK2B):c.175+217_175+220del | not provided [RCV001642106] | benign | 6 | 31668187 | 31668190 | Human | | name |
| 150471144 | CV1259054 | deletion | NM_001320.7(CSNK2B):c.175+213_175+215del | not provided [RCV001684298] | benign | 6 | 31668182 | 31668184 | Human | | name |
| 151353456 | CV1326590 | duplication | NM_001320.7(CSNK2B):c.194dup (p.Asn65fs) | not provided [RCV001816422] | likely pathogenic | 6 | 31668555 | 31668556 | Human | | name |
| 151663333 | CV1331074 | single nucleotide variant | NM_001320.7(CSNK2B):c.70G>T (p.Glu24Ter) | CSNK2B-related disorder [RCV004545832] | not provided | 6 | 31666901 | 31666901 | Human | | name , trait , alternate_id |
| 152154027 | CV1667815 | single nucleotide variant | NM_001320.7(CSNK2B):c.94G>C (p.Asp32His) | Intellectual disability-craniodigital syndrome [RCV002221707] | pathogenic | 6 | 31667889 | 31667889 | Human | | name |
| 152982833 | CV1677694 | single nucleotide variant | NM_001320.7(CSNK2B):c.94G>T (p.Asp32Tyr) | Poirier-Bienvenu neurodevelopmental syndrome [RCV002249847]|not provided [RCV004820239] | pathogenic | 6 | 31667889 | 31667889 | Human | 1 | name |
| 155797397 | CV1860355 | single nucleotide variant | NM_001320.7(CSNK2B):c.32C>T (p.Ser11Phe) | not provided [RCV002466997] | uncertain significance | 6 | 31666863 | 31666863 | Human | | name |
| 156329622 | CV2216454 | single nucleotide variant | NM_001320.7(CSNK2B):c.67T>C (p.Cys23Arg) | Inborn genetic diseases [RCV002717833] | uncertain significance | 6 | 31666898 | 31666898 | Human | 1 | name |
| 243062531 | CV2404978 | single nucleotide variant | NM_001320.7(CSNK2B):c.501C>T (p.Leu167=) | Poirier-Bienvenu neurodevelopmental syndrome [RCV003225802] | uncertain significance | 6 | 31669452 | 31669452 | Human | 1 | name |
| 401858427 | CV2750605 | deletion | NM_001320.7(CSNK2B):c.192del (p.Asp64fs) | not provided [RCV003334278] | pathogenic | 6 | 31668555 | 31668555 | Human | | name |
| 401920486 | CV2822885 | single nucleotide variant | NM_001320.7(CSNK2B):c.582G>A (p.Pro194=) | not provided [RCV003431757] | likely benign | 6 | 31669860 | 31669860 | Human | | name |
| 405261932 | CV3184846 | single nucleotide variant | NM_001320.7(CSNK2B):c.95A>C (p.Asp32Ala) | Poirier-Bienvenu neurodevelopmental syndrome [RCV003885419] | pathogenic | 6 | 31667890 | 31667890 | Human | 1 | name |
| 405278612 | CV3216705 | single nucleotide variant | NM_001320.7(CSNK2B):c.639G>A (p.Thr213=) | CSNK2B-related disorder [RCV003954591] | likely benign | 6 | 31669917 | 31669917 | Human | | name , trait , alternate_id |
| 405289799 | CV3219731 | single nucleotide variant | NM_001320.7(CSNK2B):c.462G>A (p.Thr154=) | CSNK2B-related disorder [RCV003961971] | likely benign | 6 | 31669413 | 31669413 | Human | | name , trait , alternate_id |
| 408380443 | CV3501134 | single nucleotide variant | NM_001320.7(CSNK2B):c.516C>T (p.Pro172=) | not provided [RCV004727222] | likely benign | 6 | 31669467 | 31669467 | Human | | name |
| 598233121 | CV3886529 | single nucleotide variant | NM_001320.7(CSNK2B):c.50G>A (p.Arg17His) | Poirier-Bienvenu neurodevelopmental syndrome [RCV005255973] | uncertain significance | 6 | 31666881 | 31666881 | Human | 1 | name |
| 598224836 | CV3894171 | single nucleotide variant | NM_001320.7(CSNK2B):c.468C>T (p.Gly156=) | not provided [RCV005257414] | likely benign | 6 | 31669419 | 31669419 | Human | | name |
| 617154314 | CV4022711 | single nucleotide variant | NM_001320.7(CSNK2B):c.88A>C (p.Ile30Leu) | not provided [RCV005430069] | uncertain significance | 6 | 31667883 | 31667883 | Human | | name |
| 13208056 | CV424262 | duplication | NM_001320.7(CSNK2B):c.108dup (p.Thr37fs) | Intellectual disability and seizures [RCV000495848]|Poirier-Bienvenu neurodevelopmental syndrome [RCV000993566] | pathogenic | 6 | 31667901 | 31667902 | Human | 1 | name |
| 13509006 | CV481759 | single nucleotide variant | NM_001320.7(CSNK2B):c.36G>A (p.Trp12Ter) | Poirier-Bienvenu neurodevelopmental syndrome [RCV003448326]|not provided [RCV000578649] | pathogenic|likely pathogenic | 6 | 31666867 | 31666867 | Human | 1 | name |
| 13520365 | CV495277 | duplication | NM_001320.7(CSNK2B):c.105dup (p.Leu36fs) | not provided [RCV000598578] | pathogenic | 6 | 31667899 | 31667900 | Human | | name |
| 13532946 | CV511653 | single nucleotide variant | NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn) | CSNK2B-related disorder [RCV003411469]|Inborn genetic diseases [RCV000624714]|Poirier-Bienvenu neurodevelopmental syndrome [RCV003139949]|Seizure [RCV002221564]|not provided [RCV001860419] | pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records | 6 | 31667889 | 31667889 | Human | 19 | name , trait , alternate_id |
| 15115366 | CV782508 | single nucleotide variant | NM_001320.7(CSNK2B):c.462G>T (p.Thr154=) | not provided [RCV000978390] | likely benign | 6 | 31669413 | 31669413 | Human | | name |
| 21068819 | CV794107 | deletion | NM_001320.7(CSNK2B):c.265del (p.Thr90fs) | Poirier-Bienvenu neurodevelopmental syndrome [RCV000993569] | pathogenic|uncertain significance | 6 | 31668627 | 31668627 | Human | 1 | name |
| 28877671 | CV859502 | single nucleotide variant | NM_001320.7(CSNK2B):c.68G>T (p.Cys23Phe) | not provided [RCV001090483] | uncertain significance | 6 | 31666899 | 31666899 | Human | | name |
| 150427685 | CV1187056 | single nucleotide variant | NM_001320.7(CSNK2B):c.229G>A (p.Glu77Lys) | Poirier-Bienvenu neurodevelopmental syndrome [RCV005419180]|not provided [RCV001561261] | pathogenic|uncertain significance | 6 | 31668592 | 31668592 | Human | 1 | name |
| 150481608 | CV1265655 | single nucleotide variant | NM_001320.7(CSNK2B):c.101T>G (p.Phe34Cys) | not provided [RCV001682651] | likely pathogenic | 6 | 31667896 | 31667896 | Human | | name |
| 150520403 | CV1289587 | deletion | NM_001320.7(CSNK2B):c.472del (p.Tyr158fs) | Poirier-Bienvenu neurodevelopmental syndrome [RCV001730004] | pathogenic | 6 | 31669423 | 31669423 | Human | 1 | name |
| 150535750 | CV1312016 | single nucleotide variant | NM_001320.7(CSNK2B):c.236T>C (p.Leu79Pro) | not provided [RCV001779827] | uncertain significance | 6 | 31668599 | 31668599 | Human | | name |
| 151352217 | CV1322316 | single nucleotide variant | NM_001320.7(CSNK2B):c.146C>A (p.Ala49Asp) | not provided [RCV001806939] | uncertain significance | 6 | 31667941 | 31667941 | Human | | name |
| 152981447 | CV1676603 | single nucleotide variant | NM_001320.7(CSNK2B):c.202C>T (p.Gln68Ter) | Poirier-Bienvenu neurodevelopmental syndrome [RCV002246197]|not provided [RCV004729111] | likely pathogenic | 6 | 31668565 | 31668565 | Human | 1 | name |
| 152982371 | CV1677310 | single nucleotide variant | NM_001320.7(CSNK2B):c.116T>G (p.Leu39Arg) | Poirier-Bienvenu neurodevelopmental syndrome [RCV002249016] | likely pathogenic | 6 | 31667911 | 31667911 | Human | 1 | name |
| 152982372 | CV1677311 | single nucleotide variant | NM_001320.7(CSNK2B):c.291G>A (p.Met97Ile) | Poirier-Bienvenu neurodevelopmental syndrome [RCV002249017] | likely pathogenic | 6 | 31668654 | 31668654 | Human | 1 | name |
| 153001922 | CV1682733 | single nucleotide variant | NM_001320.7(CSNK2B):c.107T>C (p.Leu36Pro) | Inborn genetic diseases [RCV004612160]|not provided [RCV002251812] | pathogenic|likely pathogenic | 6 | 31667902 | 31667902 | Human | 1 | name |
| 155714691 | CV1760371 | single nucleotide variant | NM_001320.7(CSNK2B):c.286C>T (p.Gln96Ter) | not provided [RCV002300878] | pathogenic | 6 | 31668649 | 31668649 | Human | | name |
| 155798161 | CV1860608 | single nucleotide variant | NM_001320.7(CSNK2B):c.257G>C (p.Arg86Pro) | not provided [RCV002467250] | likely pathogenic | 6 | 31668620 | 31668620 | Human | | name |
| 155794728 | CV1860980 | duplication | NM_001320.7(CSNK2B):c.592dup (p.Gln198fs) | Poirier-Bienvenu neurodevelopmental syndrome [RCV002468693] | likely pathogenic | 6 | 31669868 | 31669869 | Human | 1 | name |
| 156227729 | CV2212830 | single nucleotide variant | NM_001320.7(CSNK2B):c.116T>C (p.Leu39Pro) | Inborn genetic diseases [RCV002712549] | uncertain significance | 6 | 31667911 | 31667911 | Human | 1 | name |
| 156434817 | CV2403135 | single nucleotide variant | NM_001320.7(CSNK2B):c.277G>A (p.Gly93Ser) | not provided [RCV003127091] | uncertain significance | 6 | 31668640 | 31668640 | Human | | name |
| 329848136 | CV2667755 | single nucleotide variant | NM_001320.7(CSNK2B):c.257G>A (p.Arg86His) | Poirier-Bienvenu neurodevelopmental syndrome [RCV005429433]|not provided [RCV003229322] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 6 | 31668620 | 31668620 | Human | 1 | name |
| 401830115 | CV2743994 | single nucleotide variant | NM_001320.7(CSNK2B):c.278G>T (p.Gly93Val) | not provided [RCV003327262] | uncertain significance | 6 | 31668641 | 31668641 | Human | | name |
| 401830999 | CV2748647 | single nucleotide variant | NM_001320.7(CSNK2B):c.124C>T (p.Gln42Ter) | Inborn genetic diseases [RCV004614421]|Poirier-Bienvenu neurodevelopmental syndrome [RCV003330297]|not provided [RCV004823148] | pathogenic | 6 | 31667919 | 31667919 | Human | 2 | name |
| 405261912 | CV3184840 | single nucleotide variant | NM_001320.7(CSNK2B):c.289A>G (p.Met97Val) | Poirier-Bienvenu neurodevelopmental syndrome [RCV003885413] | uncertain significance | 6 | 31668652 | 31668652 | Human | 1 | name |
| 407425488 | CV3409533 | single nucleotide variant | NM_001320.7(CSNK2B):c.203A>T (p.Gln68Leu) | not provided [RCV004585465] | uncertain significance | 6 | 31668566 | 31668566 | Human | | name |
| 407496518 | CV3496634 | duplication | NM_001320.7(CSNK2B):c.216dup (p.Glu73Ter) | not provided [RCV004696835] | likely pathogenic | 6 | 31668577 | 31668578 | Human | | name |
| 596943964 | CV3543105 | deletion | NM_001320.7(CSNK2B):c.481del (p.Thr161fs) | Poirier-Bienvenu neurodevelopmental syndrome [RCV004798689] | pathogenic | 6 | 31669432 | 31669432 | Human | 1 | name |
| 596944588 | CV3543439 | single nucleotide variant | NM_001320.7(CSNK2B):c.251A>T (p.His84Leu) | not provided [RCV004801560] | uncertain significance | 6 | 31668614 | 31668614 | Human | | name |
| 598215188 | CV3890802 | single nucleotide variant | NM_001320.7(CSNK2B):c.109A>C (p.Thr37Pro) | not provided [RCV005251655] | uncertain significance | 6 | 31667904 | 31667904 | Human | | name |
| 12906333 | CV415042 | single nucleotide variant | NM_001320.7(CSNK2B):c.139C>T (p.Arg47Ter) | CSNK2B-related disorder [RCV003942606]|Inborn genetic diseases [RCV001267434]|Poirier-Bienvenu neurodevelopmental syndrome [RCV002468581]|not provided [RCV001281589] | pathogenic|uncertain significance | 6 | 31667934 | 31667934 | Human | 2 | name , trait , alternate_id |
| 13533143 | CV511654 | single nucleotide variant | NM_001320.7(CSNK2B):c.238T>A (p.Tyr80Asn) | Inborn genetic diseases [RCV000624903] | uncertain significance | 6 | 31668601 | 31668601 | Human | 1 | name |
| 13794672 | CV553383 | single nucleotide variant | NM_001320.7(CSNK2B):c.181G>T (p.Glu61Ter) | not provided [RCV000681658] | likely pathogenic | 6 | 31668544 | 31668544 | Human | | name |
| 14978986 | CV677963 | single nucleotide variant | NM_001320.7(CSNK2B):c.229G>T (p.Glu77Ter) | not provided [RCV000851179] | likely pathogenic | 6 | 31668592 | 31668592 | Human | | name |
| 21068817 | CV794106 | duplication | NM_001320.7(CSNK2B):c.621dup (p.Lys208fs) | Poirier-Bienvenu neurodevelopmental syndrome [RCV000993568] | pathogenic | 6 | 31669898 | 31669899 | Human | 1 | name |
| 40886962 | CV973537 | single nucleotide variant | NM_001320.7(CSNK2B):c.245T>A (p.Leu82Ter) | Inborn genetic diseases [RCV001266304] | pathogenic | 6 | 31668608 | 31668608 | Human | 1 | name |
| 40886873 | CV973538 | single nucleotide variant | NM_001320.7(CSNK2B):c.256C>T (p.Arg86Cys) | Inborn genetic diseases [RCV001266165]|Poirier-Bienvenu neurodevelopmental syndrome [RCV004796398]|not provided [RCV001664792] | pathogenic|likely pathogenic|uncertain significance | 6 | 31668619 | 31668619 | Human | 2 | name |
| 41406196 | CV980240 | deletion | NM_001320.7(CSNK2B):c.577del (p.His193fs) | not provided [RCV001280794] | uncertain significance | 6 | 31669854 | 31669854 | Human | | name |
| 150453185 | CV1275394 | single nucleotide variant | NM_001320.7(CSNK2B):c.491C>G (p.Pro164Arg) | Poirier-Bienvenu neurodevelopmental syndrome [RCV001706908]|not provided [RCV004774462] | likely pathogenic|uncertain significance | 6 | 31669442 | 31669442 | Human | 1 | name |
| 150554042 | CV1297134 | single nucleotide variant | NM_001320.7(CSNK2B):c.565G>A (p.Gly189Ser) | not provided [RCV001770655] | uncertain significance | 6 | 31669843 | 31669843 | Human | | name |
| 150551185 | CV1297227 | single nucleotide variant | NM_001320.7(CSNK2B):c.557G>T (p.Arg186Met) | not provided [RCV001766909] | uncertain significance | 6 | 31669508 | 31669508 | Human | | name |
| 150557111 | CV1310447 | single nucleotide variant | NM_001320.7(CSNK2B):c.332G>C (p.Arg111Pro) | Poirier-Bienvenu neurodevelopmental syndrome [RCV001775375]|not provided [RCV004815630] | pathogenic | 6 | 31669137 | 31669137 | Human | 1 | name |
| 151233345 | CV1317049 | single nucleotide variant | NM_001320.7(CSNK2B):c.631G>A (p.Val211Ile) | not provided [RCV001786870] | uncertain significance | 6 | 31669909 | 31669909 | Human | | name |
| 151349778 | CV1324476 | single nucleotide variant | NM_001320.7(CSNK2B):c.560T>G (p.Leu187Arg) | Poirier-Bienvenu neurodevelopmental syndrome [RCV001808922] | pathogenic|likely pathogenic | 6 | 31669838 | 31669838 | Human | 1 | name |
| 151714160 | CV1334517 | single nucleotide variant | NM_001320.7(CSNK2B):c.467G>A (p.Gly156Asp) | Poirier-Bienvenu neurodevelopmental syndrome [RCV001842238] | pathogenic|conflicting interpretations of pathogenicity | 6 | 31669418 | 31669418 | Human | 1 | name |
| 151750569 | CV1335564 | single nucleotide variant | NM_001320.7(CSNK2B):c.474C>G (p.Tyr158Ter) | not provided [RCV001847406] | pathogenic | 6 | 31669425 | 31669425 | Human | | name |
| 152154015 | CV1667804 | single nucleotide variant | NM_001320.7(CSNK2B):c.374C>G (p.Ser125Ter) | Poirier-Bienvenu neurodevelopmental syndrome [RCV002221700] | pathogenic | 6 | 31669325 | 31669325 | Human | 1 | name |
| 152978339 | CV1671531 | single nucleotide variant | NM_001320.7(CSNK2B):c.349C>T (p.Gln117Ter) | Poirier-Bienvenu neurodevelopmental syndrome [RCV002227636] | pathogenic | 6 | 31669154 | 31669154 | Human | 1 | name |
| 152980474 | CV1675977 | single nucleotide variant | NM_001320.7(CSNK2B):c.304C>T (p.Gln102Ter) | Poirier-Bienvenu neurodevelopmental syndrome [RCV002468656]|not provided [RCV002244566] | pathogenic | 6 | 31669109 | 31669109 | Human | 1 | name |
| 153346877 | CV1694250 | single nucleotide variant | NM_001320.7(CSNK2B):c.410G>A (p.Cys137Tyr) | Neurodevelopmental disorder [RCV002277666]|Poirier-Bienvenu neurodevelopmental syndrome [RCV004596533] | pathogenic|likely pathogenic | 6 | 31669361 | 31669361 | Human | 2 | name |
| 155644506 | CV1708088 | single nucleotide variant | NM_001320.7(CSNK2B):c.446C>G (p.Ser149Ter) | Inborn genetic diseases [RCV003308101]|Poirier-Bienvenu neurodevelopmental syndrome [RCV002290076] | pathogenic|likely pathogenic | 6 | 31669397 | 31669397 | Human | 2 | name |
| 155800049 | CV1862776 | single nucleotide variant | NM_001320.7(CSNK2B):c.325T>C (p.Cys109Arg) | Poirier-Bienvenu neurodevelopmental syndrome [RCV002472183] | uncertain significance | 6 | 31669130 | 31669130 | Human | 1 | name |
| 155796560 | CV1862920 | single nucleotide variant | NM_001320.7(CSNK2B):c.569T>C (p.Phe190Ser) | Poirier-Bienvenu neurodevelopmental syndrome [RCV002470194] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 6 | 31669847 | 31669847 | Human | 1 | name |
| 155800609 | CV1863732 | single nucleotide variant | NM_001320.7(CSNK2B):c.365T>C (p.Ile122Thr) | not provided [RCV002474155] | uncertain significance | 6 | 31669170 | 31669170 | Human | | name |
| 329848485 | CV2523253 | single nucleotide variant | NM_001320.7(CSNK2B):c.310G>T (p.Gly104Ter) | Poirier-Bienvenu neurodevelopmental syndrome [RCV003225013] | pathogenic | 6 | 31669115 | 31669115 | Human | 1 | name |
| 329848131 | CV2667750 | single nucleotide variant | NM_001320.7(CSNK2B):c.475T>G (p.Phe159Val) | not provided [RCV003229317] | uncertain significance | 6 | 31669426 | 31669426 | Human | | name |
| 329953172 | CV2669884 | single nucleotide variant | NM_001320.7(CSNK2B):c.307C>T (p.Gln103Ter) | Poirier-Bienvenu neurodevelopmental syndrome [RCV004796791]|not provided [RCV003234508] | pathogenic | 6 | 31669112 | 31669112 | Human | 1 | name |
| 401761021 | CV2706186 | single nucleotide variant | NM_001320.7(CSNK2B):c.491C>T (p.Pro164Leu) | Inborn genetic diseases [RCV003257416] | uncertain significance | 6 | 31669442 | 31669442 | Human | 1 | name |
| 401827977 | CV2744348 | single nucleotide variant | NM_001320.7(CSNK2B):c.368G>A (p.Gly123Asp) | not provided [RCV003327745] | pathogenic|likely pathogenic | 6 | 31669319 | 31669319 | Human | | name |
| 401856218 | CV2752381 | single nucleotide variant | NM_001320.7(CSNK2B):c.581C>T (p.Pro194Leu) | Poirier-Bienvenu neurodevelopmental syndrome [RCV003340718] | uncertain significance | 6 | 31669859 | 31669859 | Human | 1 | name |
| 401908167 | CV2801296 | single nucleotide variant | NM_001320.7(CSNK2B):c.505A>G (p.Met169Val) | CSNK2B-related disorder [RCV003397536] | uncertain significance | 6 | 31669456 | 31669456 | Human | | name , trait , alternate_id |
| 405270245 | CV3187660 | duplication | NM_001320.7(CSNK2B):c.59_62dup (p.Phe21fs) | not provided [RCV003887744] | pathogenic | 6 | 31666889 | 31666890 | Human | | name |
| 407427968 | CV3412290 | single nucleotide variant | NM_001320.7(CSNK2B):c.422T>C (p.Met141Thr) | not provided [RCV004592461] | uncertain significance | 6 | 31669373 | 31669373 | Human | | name |
| 407429129 | CV3413516 | single nucleotide variant | NM_001320.7(CSNK2B):c.408C>G (p.Tyr136Ter) | Poirier-Bienvenu neurodevelopmental syndrome [RCV004594924] | pathogenic | 6 | 31669359 | 31669359 | Human | 1 | name |
| 407429131 | CV3413518 | single nucleotide variant | NM_001320.7(CSNK2B):c.463G>C (p.Asp155His) | Poirier-Bienvenu neurodevelopmental syndrome [RCV004594926] | uncertain significance | 6 | 31669414 | 31669414 | Human | 1 | name |
| 407574151 | CV3498500 | single nucleotide variant | NM_001320.7(CSNK2B):c.517G>A (p.Glu173Lys) | not specified [RCV004702975] | uncertain significance | 6 | 31669468 | 31669468 | Human | | name |
| 408377664 | CV3501617 | single nucleotide variant | NM_001320.7(CSNK2B):c.409T>C (p.Cys137Arg) | not provided [RCV004727676] | pathogenic | 6 | 31669360 | 31669360 | Human | | name |
| 408384198 | CV3520046 | single nucleotide variant | NM_001320.7(CSNK2B):c.647G>C (p.Ter216Ser) | not provided [RCV004759867] | uncertain significance | 6 | 31669925 | 31669925 | Human | | name |
| 596921613 | CV3535235 | single nucleotide variant | NM_001320.7(CSNK2B):c.575T>G (p.Ile192Ser) | not provided [RCV004784794] | uncertain significance | 6 | 31669853 | 31669853 | Human | | name |
| 596925474 | CV3542094 | single nucleotide variant | NM_001320.7(CSNK2B):c.341G>A (p.Cys114Tyr) | Poirier-Bienvenu neurodevelopmental syndrome [RCV004795810]|not provided [RCV005402189] | uncertain significance | 6 | 31669146 | 31669146 | Human | 1 | name |
| 596940303 | CV3550875 | single nucleotide variant | NM_001320.7(CSNK2B):c.332G>T (p.Arg111Leu) | not provided [RCV004814775] | likely pathogenic | 6 | 31669137 | 31669137 | Human | | name |
| 597665145 | CV3654714 | indel | NM_001320.7(CSNK2B):c.367+3_367+5delinsAAA | Inborn genetic diseases [RCV004979264] | likely pathogenic | 6 | 31669175 | 31669177 | Human | | name |
| 597714278 | CV3733096 | single nucleotide variant | NM_001320.7(CSNK2B):c.475T>C (p.Phe159Leu) | Poirier-Bienvenu neurodevelopmental syndrome [RCV005052285] | uncertain significance | 6 | 31669426 | 31669426 | Human | 1 | name |
| 616940209 | CV4014718 | single nucleotide variant | NM_001320.7(CSNK2B):c.326G>A (p.Cys109Tyr) | not provided [RCV005414212] | likely pathogenic | 6 | 31669131 | 31669131 | Human | | name |
| 617151249 | CV4017800 | single nucleotide variant | NM_001320.7(CSNK2B):c.323A>G (p.Tyr108Cys) | Poirier-Bienvenu neurodevelopmental syndrome [RCV005417588] | uncertain significance | 6 | 31669128 | 31669128 | Human | 1 | name |
| 21069232 | CV795816 | single nucleotide variant | NM_001320.7(CSNK2B):c.318T>G (p.Phe106Leu) | not provided [RCV000998553] | uncertain significance | 6 | 31669123 | 31669123 | Human | | name |
| 28877676 | CV859503 | single nucleotide variant | NM_001320.7(CSNK2B):c.340T>C (p.Cys114Arg) | not provided [RCV001090484] | uncertain significance | 6 | 31669145 | 31669145 | Human | | name |
| 38464876 | CV961649 | single nucleotide variant | NM_001320.7(CSNK2B):c.303C>G (p.Tyr101Ter) | Poirier-Bienvenu neurodevelopmental syndrome [RCV001249833] | likely pathogenic | 6 | 31669108 | 31669108 | Human | 1 | name |
| 40815854 | CV970495 | single nucleotide variant | NM_001320.7(CSNK2B):c.560T>C (p.Leu187Pro) | Poirier-Bienvenu neurodevelopmental syndrome [RCV001261948] | pathogenic | 6 | 31669838 | 31669838 | Human | 1 | name |
| 40886626 | CV973539 | single nucleotide variant | NM_001320.7(CSNK2B):c.566G>T (p.Gly189Val) | Inborn genetic diseases [RCV001265804] | uncertain significance | 6 | 31669844 | 31669844 | Human | 1 | name |
| 42723660 | CV984575 | single nucleotide variant | NM_001320.7(CSNK2B):c.494A>G (p.His165Arg) | Poirier-Bienvenu neurodevelopmental syndrome [RCV002246284]|See cases [RCV001291643]|not provided [RCV004584874] | pathogenic|likely pathogenic | 6 | 31669445 | 31669445 | Human | 1 | name |
| 150540752 | CV1298475 | microsatellite | NM_001320.7(CSNK2B):c.62TCT[1] (p.Phe22del) | not provided [RCV001760623] | uncertain significance | 6 | 31666892 | 31666894 | Human | | name |
| 151663185 | CV1330985 | duplication | NM_001320.7(CSNK2B):c.583_586dup (p.Ala196fs) | Poirier-Bienvenu neurodevelopmental syndrome [RCV001825158] | likely pathogenic | 6 | 31669859 | 31669860 | Human | 1 | name |
| 153346848 | CV1694235 | microsatellite | NM_001320.7(CSNK2B):c.495_496del (p.Met166fs) | Inborn genetic diseases [RCV003164406]|Neurodevelopmental disorder [RCV002277651]|Poirier-Bienvenu neurodevelopmental syndrome [RCV004770436] | pathogenic|likely pathogenic | 6 | 31669444 | 31669445 | Human | | name |
| 156258453 | CV2264958 | deletion | NM_001320.7(CSNK2B):c.464_467del (p.Asp155fs) | Inborn genetic diseases [RCV002831557]|not provided [RCV004786857] | pathogenic | 6 | 31669413 | 31669416 | Human | 1 | name |
| 38598533 | CV964272 | duplication | NM_001320.7(CSNK2B):c.554_555dup (p.Arg186fs) | Poirier-Bienvenu neurodevelopmental syndrome [RCV001253734] | likely pathogenic|uncertain significance | 6 | 31669503 | 31669504 | Human | 1 | name |
| 598122469 | CV3889879 | insertion | NM_001320.7(CSNK2B):c.342_343insTT (p.Glu115fs) | Poirier-Bienvenu neurodevelopmental syndrome [RCV005247983] | pathogenic | 6 | 31669146 | 31669147 | Human | 1 | name |
| 13475335 | CV443944 | deletion | NM_001320.7(CSNK2B):c.27del (p.Ser8_Trp9insTer) | not provided [RCV000519863] | pathogenic | 6 | 31666857 | 31666857 | Human | | name |
| 21068689 | CV794105 | insertion | NM_001320.7(CSNK2B):c.533_534insGT (p.Pro179fs) | Poirier-Bienvenu neurodevelopmental syndrome [RCV000993567] | pathogenic | 6 | 31669484 | 31669485 | Human | 1 | name |
| 151713435 | CV1334526 | indel | NM_001320.7(CSNK2B):c.467_468delinsTT (p.Gly156Val) | Poirier-Bienvenu neurodevelopmental syndrome [RCV001842244] | uncertain significance | 6 | 31669418 | 31669419 | Human | | name |
| 596930116 | CV3531367 | indel | NM_001320.7(CSNK2B):c.419_420delinsTA (p.Cys140Leu) | not provided [RCV004779941] | uncertain significance | 6 | 31669370 | 31669371 | Human | | name |
| 596944615 | CV3543264 | indel | NM_001320.7(CSNK2B):c.396_411delinsACTG (p.Met132_Cys137delinsIleLeu) | Poirier-Bienvenu neurodevelopmental syndrome [RCV004799136] | pathogenic | 6 | 31669347 | 31669362 | Human | | name |
