NM_001320.7(CSNK2B):c.27del (p.Ser8_Trp9insTer) |
deletion |
not provided [RCV000519863] |
Chr6:31666857 [GRCh38] Chr6:31634634 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.494A>G (p.His165Arg) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV002246284]|See cases [RCV001291643]|not provided [RCV004584874] |
Chr6:31669445 [GRCh38] Chr6:31637222 [GRCh37] Chr6:6p21.33 |
pathogenic|likely pathogenic |
NM_001320.7(CSNK2B):c.292-2A>C |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV001331966] |
Chr6:31669095 [GRCh38] Chr6:31636872 [GRCh37] Chr6:6p21.33 |
pathogenic |
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 |
copy number gain |
See cases [RCV000143497] |
Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3 |
pathogenic |
NM_001320.7(CSNK2B):c.139C>T (p.Arg47Ter) |
single nucleotide variant |
CSNK2B-related disorder [RCV003942606]|Inborn genetic diseases [RCV001267434]|Poirier-Bienvenu neurodevelopmental syndrome [RCV002468581]|not provided [RCV001281589] |
Chr6:31667934 [GRCh38] Chr6:31635711 [GRCh37] Chr6:6p21.33 |
pathogenic|uncertain significance |
NM_001320.7(CSNK2B):c.73-2A>G |
single nucleotide variant |
Inborn genetic diseases [RCV000624000]|Poirier-Bienvenu neurodevelopmental syndrome [RCV004797842] |
Chr6:31667866 [GRCh38] Chr6:31635643 [GRCh37] Chr6:6p21.33 |
pathogenic|likely pathogenic |
NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn) |
single nucleotide variant |
CSNK2B-related disorder [RCV003411469]|Inborn genetic diseases [RCV000624714]|Poirier-Bienvenu neurodevelopmental syndrome [RCV003139949]|Seizure [RCV002221564]|not provided [RCV001860419] |
Chr6:31667889 [GRCh38] Chr6:31635666 [GRCh37] Chr6:6p21.33 |
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records |
NM_001320.7(CSNK2B):c.105dup (p.Leu36fs) |
duplication |
not provided [RCV000598578] |
Chr6:31667899..31667900 [GRCh38] Chr6:31635676..31635677 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.2T>A (p.Met1Lys) |
single nucleotide variant |
not provided [RCV000681657] |
Chr6:31666833 [GRCh38] Chr6:31634610 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.181G>T (p.Glu61Ter) |
single nucleotide variant |
not provided [RCV000681658] |
Chr6:31668544 [GRCh38] Chr6:31636321 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
GRCh37/hg19 6p21.33(chr6:31384577-31902308)x3 |
copy number gain |
See cases [RCV000448679] |
Chr6:31384577..31902308 [GRCh37] Chr6:6p21.33 |
uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 |
copy number gain |
See cases [RCV000512067] |
Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) |
copy number gain |
See cases [RCV000510595] |
Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_001320.7(CSNK2B):c.36G>A (p.Trp12Ter) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV003448326]|not provided [RCV000578649] |
Chr6:31666867 [GRCh38] Chr6:31634644 [GRCh37] Chr6:6p21.33 |
pathogenic|likely pathogenic |
NM_001320.7(CSNK2B):c.108dup (p.Thr37fs) |
duplication |
Intellectual disability and seizures [RCV000495848]|Poirier-Bienvenu neurodevelopmental syndrome [RCV000993566] |
Chr6:31667901..31667902 [GRCh38] Chr6:31635678..31635679 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.491C>T (p.Pro164Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003257416] |
Chr6:31669442 [GRCh38] Chr6:31637219 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.238T>A (p.Tyr80Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV000624903] |
Chr6:31668601 [GRCh38] Chr6:31636378 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.62TCT[1] (p.Phe22del) |
microsatellite |
not provided [RCV001760623] |
Chr6:31666892..31666894 [GRCh38] Chr6:31634669..31634671 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.367+2T>C |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV001003349] |
Chr6:31669174 [GRCh38] Chr6:31636951 [GRCh37] Chr6:6p21.33 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 |
copy number gain |
not provided [RCV000745403] |
Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 |
copy number gain |
not provided [RCV000745400] |
Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 |
copy number gain |
not provided [RCV000745404] |
Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)x3 |
copy number gain |
not provided [RCV000745592] |
Chr6:28130359..32108367 [GRCh37] Chr6:6p22.1-21.32 |
uncertain significance |
NM_001320.7(CSNK2B):c.175+2T>G |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV000993565]|not provided [RCV004818102] |
Chr6:31667972 [GRCh38] Chr6:31635749 [GRCh37] Chr6:6p21.33 |
pathogenic |
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) |
copy number gain |
not provided [RCV000767714] |
Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1 |
pathogenic |
NM_001320.7(CSNK2B):c.108T>A (p.Leu36=) |
single nucleotide variant |
not provided [RCV000884603] |
Chr6:31667903 [GRCh38] Chr6:31635680 [GRCh37] Chr6:6p21.33 |
benign |
NM_001320.7(CSNK2B):c.265del (p.Thr90fs) |
deletion |
Poirier-Bienvenu neurodevelopmental syndrome [RCV000993569] |
Chr6:31668627 [GRCh38] Chr6:31636404 [GRCh37] Chr6:6p21.33 |
pathogenic|uncertain significance |
NM_001320.7(CSNK2B):c.621dup (p.Lys208fs) |
duplication |
Poirier-Bienvenu neurodevelopmental syndrome [RCV000993568] |
Chr6:31669898..31669899 [GRCh38] Chr6:31637675..31637676 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.340T>C (p.Cys114Arg) |
single nucleotide variant |
not provided [RCV001090484] |
Chr6:31669145 [GRCh38] Chr6:31636922 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.367+5del |
deletion |
Poirier-Bienvenu neurodevelopmental syndrome [RCV002221588]|Seizure [RCV000845042]|not provided [RCV001560828] |
Chr6:31669177 [GRCh38] Chr6:31636954 [GRCh37] Chr6:6p21.33 |
pathogenic|likely pathogenic|not provided |
NM_001320.7(CSNK2B):c.533_534insGT (p.Pro179fs) |
insertion |
Poirier-Bienvenu neurodevelopmental syndrome [RCV000993567] |
Chr6:31669484..31669485 [GRCh38] Chr6:31637261..31637262 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.318T>G (p.Phe106Leu) |
single nucleotide variant |
not provided [RCV000998553] |
Chr6:31669123 [GRCh38] Chr6:31636900 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.229G>T (p.Glu77Ter) |
single nucleotide variant |
not provided [RCV000851179] |
Chr6:31668592 [GRCh38] Chr6:31636369 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.368-2A>G |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV000993570] |
Chr6:31669317 [GRCh38] Chr6:31637094 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.291+1G>A |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV004785107] |
Chr6:31668655 [GRCh38] Chr6:31636432 [GRCh37] Chr6:6p21.33 |
pathogenic|likely pathogenic |
NM_001320.7(CSNK2B):c.575T>G (p.Ile192Ser) |
single nucleotide variant |
not provided [RCV004784794] |
Chr6:31669853 [GRCh38] Chr6:31637630 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.72+1G>T |
single nucleotide variant |
Autism spectrum disorder [RCV003127240] |
Chr6:31666904 [GRCh38] Chr6:31634681 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.277G>A (p.Gly93Ser) |
single nucleotide variant |
not provided [RCV003127091] |
Chr6:31668640 [GRCh38] Chr6:31636417 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NC_000006.11:g.(?_30695893)_(31937492_?)dup |
duplication |
not provided [RCV003107453] |
Chr6:30695893..31937492 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.367+6T>C |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV001706783] |
Chr6:31669178 [GRCh38] Chr6:31636955 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.229G>A (p.Glu77Lys) |
single nucleotide variant |
not provided [RCV001561261] |
Chr6:31668592 [GRCh38] Chr6:31636369 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.175+217_175+220del |
deletion |
not provided [RCV001642106] |
Chr6:31668187..31668190 [GRCh38] Chr6:31635964..31635967 [GRCh37] Chr6:6p21.33 |
benign |
NM_001320.7(CSNK2B):c.462G>T (p.Thr154=) |
single nucleotide variant |
not provided [RCV000978390] |
Chr6:31669413 [GRCh38] Chr6:31637190 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_001320.7(CSNK2B):c.1A>G (p.Met1Val) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV004726946]|not provided [RCV001200288] |
Chr6:31666832 [GRCh38] Chr6:31634609 [GRCh37] Chr6:6p21.33 |
pathogenic|likely pathogenic |
NM_001320.7(CSNK2B):c.32C>T (p.Ser11Phe) |
single nucleotide variant |
not provided [RCV002466997] |
Chr6:31666863 [GRCh38] Chr6:31634640 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.268dup (p.Thr90fs) |
duplication |
CSNK2B-related intellectual disability with or without epilepsy [RCV001563630] |
Chr6:31668630..31668631 [GRCh38] Chr6:31636407..31636408 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.307C>T (p.Gln103Ter) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV004796791]|not provided [RCV003234508] |
Chr6:31669112 [GRCh38] Chr6:31636889 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.*104C>T |
single nucleotide variant |
not provided [RCV001662895] |
Chr6:31670030 [GRCh38] Chr6:31637807 [GRCh37] Chr6:6p21.33 |
benign |
NM_001320.7(CSNK2B):c.73-1G>A |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV002255105] |
Chr6:31667867 [GRCh38] Chr6:31635644 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.257G>C (p.Arg86Pro) |
single nucleotide variant |
not provided [RCV002467250] |
Chr6:31668620 [GRCh38] Chr6:31636397 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.325T>C (p.Cys109Arg) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV002472183] |
Chr6:31669130 [GRCh38] Chr6:31636907 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.332G>T (p.Arg111Leu) |
single nucleotide variant |
not provided [RCV004814775] |
Chr6:31669137 [GRCh38] Chr6:31636914 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.396_411delinsACTG (p.Met132_Cys137delinsIleLeu) |
indel |
Poirier-Bienvenu neurodevelopmental syndrome [RCV004799136] |
Chr6:31669347..31669362 [GRCh38] Chr6:31637124..31637139 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.101T>G (p.Phe34Cys) |
single nucleotide variant |
not provided [RCV001682651] |
Chr6:31667896 [GRCh38] Chr6:31635673 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3 |
copy number gain |
not provided [RCV001005791] |
Chr6:31036397..34088832 [GRCh37] Chr6:6p21.33-21.31 |
likely pathogenic |
NM_001320.7(CSNK2B):c.2T>G (p.Met1Arg) |
single nucleotide variant |
not provided [RCV001658785] |
Chr6:31666833 [GRCh38] Chr6:31634610 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.175+213_175+215del |
deletion |
not provided [RCV001684298] |
Chr6:31668182..31668184 [GRCh38] Chr6:31635959..31635961 [GRCh37] Chr6:6p21.33 |
benign |
NM_001320.7(CSNK2B):c.491C>G (p.Pro164Arg) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV001706908]|not provided [RCV004774462] |
Chr6:31669442 [GRCh38] Chr6:31637219 [GRCh37] Chr6:6p21.33 |
likely pathogenic|uncertain significance |
NM_001320.7(CSNK2B):c.-11-28A>C |
single nucleotide variant |
not provided [RCV001649101] |
Chr6:31666793 [GRCh38] Chr6:31634570 [GRCh37] Chr6:6p21.33 |
benign |
NM_001320.7(CSNK2B):c.*31A>T |
single nucleotide variant |
not provided [RCV001652060] |
Chr6:31669957 [GRCh38] Chr6:31637734 [GRCh37] Chr6:6p21.33 |
benign |
NM_001320.7(CSNK2B):c.292-2A>T |
single nucleotide variant |
not provided [RCV001531621] |
Chr6:31669095 [GRCh38] Chr6:31636872 [GRCh37] Chr6:6p21.33 |
pathogenic|likely pathogenic |
NM_001320.7(CSNK2B):c.303C>G (p.Tyr101Ter) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV001249833] |
Chr6:31669108 [GRCh38] Chr6:31636885 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.68G>T (p.Cys23Phe) |
single nucleotide variant |
not provided [RCV001090483] |
Chr6:31666899 [GRCh38] Chr6:31634676 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.554_555dup (p.Arg186fs) |
duplication |
Poirier-Bienvenu neurodevelopmental syndrome [RCV001253734] |
Chr6:31669503..31669504 [GRCh38] Chr6:31637280..31637281 [GRCh37] Chr6:6p21.33 |
likely pathogenic|uncertain significance |
NM_001320.7(CSNK2B):c.72+1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV001265893]|Poirier-Bienvenu neurodevelopmental syndrome [RCV001732100]|not provided [RCV004727061] |
Chr6:31666904 [GRCh38] Chr6:31634681 [GRCh37] Chr6:6p21.33 |
pathogenic|likely pathogenic |
NM_001320.7(CSNK2B):c.245T>A (p.Leu82Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV001266304] |
Chr6:31668608 [GRCh38] Chr6:31636385 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.560T>C (p.Leu187Pro) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV001261948] |
Chr6:31669838 [GRCh38] Chr6:31637615 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.256C>T (p.Arg86Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV001266165]|Poirier-Bienvenu neurodevelopmental syndrome [RCV004796398]|not provided [RCV001664792] |
Chr6:31668619 [GRCh38] Chr6:31636396 [GRCh37] Chr6:6p21.33 |
pathogenic|likely pathogenic|uncertain significance |
NM_001320.7(CSNK2B):c.566G>T (p.Gly189Val) |
single nucleotide variant |
Inborn genetic diseases [RCV001265804] |
Chr6:31669844 [GRCh38] Chr6:31637621 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.577del (p.His193fs) |
deletion |
not provided [RCV001280794] |
Chr6:31669854 [GRCh38] Chr6:31637631 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.91C>T (p.Gln31Ter) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV001376051] |
Chr6:31667886 [GRCh38] Chr6:31635663 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.72+78G>A |
single nucleotide variant |
not provided [RCV001694703] |
Chr6:31666981 [GRCh38] Chr6:31634758 [GRCh37] Chr6:6p21.33 |
benign |
NM_001320.7(CSNK2B):c.292-132A>G |
single nucleotide variant |
not provided [RCV001539744] |
Chr6:31668965 [GRCh38] Chr6:31636742 [GRCh37] Chr6:6p21.33 |
benign |
NM_001320.7(CSNK2B):c.94G>T (p.Asp32Tyr) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV002249847]|not provided [RCV004820239] |
Chr6:31667889 [GRCh38] Chr6:31635666 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.107T>C (p.Leu36Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004612160]|not provided [RCV002251812] |
Chr6:31667902 [GRCh38] Chr6:31635679 [GRCh37] Chr6:6p21.33 |
pathogenic|likely pathogenic |
NM_001320.7(CSNK2B):c.472del (p.Tyr158fs) |
deletion |
Poirier-Bienvenu neurodevelopmental syndrome [RCV001730004] |
Chr6:31669423 [GRCh38] Chr6:31637200 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.292-2A>G |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV001775388] |
Chr6:31669095 [GRCh38] Chr6:31636872 [GRCh37] Chr6:6p21.33 |
pathogenic|likely pathogenic |
NM_001320.7(CSNK2B):c.367+1G>A |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV001733825] |
Chr6:31669173 [GRCh38] Chr6:31636950 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.557+1G>A |
single nucleotide variant |
not provided [RCV001799935] |
Chr6:31669509 [GRCh38] Chr6:31637286 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.557G>T (p.Arg186Met) |
single nucleotide variant |
not provided [RCV001766909] |
Chr6:31669508 [GRCh38] Chr6:31637285 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.332G>C (p.Arg111Pro) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV001775375]|not provided [RCV004815630] |
Chr6:31669137 [GRCh38] Chr6:31636914 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.565G>A (p.Gly189Ser) |
single nucleotide variant |
not provided [RCV001770655] |
Chr6:31669843 [GRCh38] Chr6:31637620 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.236T>C (p.Leu79Pro) |
single nucleotide variant |
not provided [RCV001779827] |
Chr6:31668599 [GRCh38] Chr6:31636376 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.631G>A (p.Val211Ile) |
single nucleotide variant |
not provided [RCV001786870] |
Chr6:31669909 [GRCh38] Chr6:31637686 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.194dup (p.Asn65fs) |
duplication |
not provided [RCV001816422] |
Chr6:31668555..31668556 [GRCh38] Chr6:31636332..31636333 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NC_000006.11:g.28005012_31683185del |
deletion |
Megacolon [RCV001290055] |
Chr6:28005012..31683185 [GRCh37] Chr6:6p22.1-21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.560T>G (p.Leu187Arg) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV001808922] |
Chr6:31669838 [GRCh38] Chr6:31637615 [GRCh37] Chr6:6p21.33 |
pathogenic|likely pathogenic |
NM_001320.7(CSNK2B):c.146C>A (p.Ala49Asp) |
single nucleotide variant |
not provided [RCV001806939] |
Chr6:31667941 [GRCh38] Chr6:31635718 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.251A>T (p.His84Leu) |
single nucleotide variant |
not provided [RCV004801560] |
Chr6:31668614 [GRCh38] Chr6:31636391 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.70G>T (p.Glu24Ter) |
single nucleotide variant |
CSNK2B-related disorder [RCV004545832] |
Chr6:31666901 [GRCh38] Chr6:31634678 [GRCh37] Chr6:6p21.33 |
not provided |
NM_001320.7(CSNK2B):c.467G>A (p.Gly156Asp) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV001842238] |
Chr6:31669418 [GRCh38] Chr6:31637195 [GRCh37] Chr6:6p21.33 |
pathogenic|conflicting interpretations of pathogenicity |
NM_001320.7(CSNK2B):c.474C>G (p.Tyr158Ter) |
single nucleotide variant |
not provided [RCV001847406] |
Chr6:31669425 [GRCh38] Chr6:31637202 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.467_468delinsTT (p.Gly156Val) |
indel |
Poirier-Bienvenu neurodevelopmental syndrome [RCV001842244] |
Chr6:31669418..31669419 [GRCh38] Chr6:31637195..31637196 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.72+2T>G |
single nucleotide variant |
Autosomal dominant non-syndromic intellectual disability [RCV002052288] |
Chr6:31666905 [GRCh38] Chr6:31634682 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
GRCh37/hg19 6p21.33(chr6:31384577-31902308) |
copy number gain |
not specified [RCV002053564] |
Chr6:31384577..31902308 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.583_586dup (p.Ala196fs) |
duplication |
Poirier-Bienvenu neurodevelopmental syndrome [RCV001825158] |
Chr6:31669859..31669860 [GRCh38] Chr6:31637636..31637637 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.291+1G>T |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV002071022] |
Chr6:31668655 [GRCh38] Chr6:31636432 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.202C>T (p.Gln68Ter) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV002246197]|not provided [RCV004729111] |
Chr6:31668565 [GRCh38] Chr6:31636342 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.304C>T (p.Gln102Ter) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV002468656]|not provided [RCV002244566] |
Chr6:31669109 [GRCh38] Chr6:31636886 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.374C>G (p.Ser125Ter) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV002221700] |
|
pathogenic |
NM_001320.7(CSNK2B):c.94G>C (p.Asp32His) |
single nucleotide variant |
Intellectual disability-craniodigital syndrome [RCV002221707] |
|
pathogenic |
NC_000006.11:g.(?_30695893)_(36953949_?)dup |
duplication |
Proteasome-associated autoinflammatory syndrome 1 [RCV003113679] |
Chr6:30695893..36953949 [GRCh37] Chr6:6p21.33-21.2 |
uncertain significance |
NM_001320.7(CSNK2B):c.27G>A (p.Trp9Ter) |
single nucleotide variant |
not provided [RCV003156489] |
Chr6:31666858 [GRCh38] Chr6:31634635 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.349C>T (p.Gln117Ter) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV002227636] |
Chr6:31669154 [GRCh38] Chr6:31636931 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.116T>G (p.Leu39Arg) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV002249016] |
Chr6:31667911 [GRCh38] Chr6:31635688 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.291G>A (p.Met97Ile) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV002249017] |
Chr6:31668654 [GRCh38] Chr6:31636431 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.495_496del (p.Met166fs) |
microsatellite |
Inborn genetic diseases [RCV003164406]|Neurodevelopmental disorder [RCV002277651]|Poirier-Bienvenu neurodevelopmental syndrome [RCV004770436] |
Chr6:31669444..31669445 [GRCh38] Chr6:31637221..31637222 [GRCh37] Chr6:6p21.33 |
pathogenic|likely pathogenic |
NM_001320.7(CSNK2B):c.410G>A (p.Cys137Tyr) |
single nucleotide variant |
Neurodevelopmental disorder [RCV002277666]|Poirier-Bienvenu neurodevelopmental syndrome [RCV004596533] |
Chr6:31669361 [GRCh38] Chr6:31637138 [GRCh37] Chr6:6p21.33 |
pathogenic|likely pathogenic |
NM_001320.7(CSNK2B):c.99dup (p.Phe34fs) |
duplication |
Poirier-Bienvenu neurodevelopmental syndrome [RCV002289423] |
Chr6:31667891..31667892 [GRCh38] Chr6:31635668..31635669 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.446C>G (p.Ser149Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV003308101]|Poirier-Bienvenu neurodevelopmental syndrome [RCV002290076] |
Chr6:31669397 [GRCh38] Chr6:31637174 [GRCh37] Chr6:6p21.33 |
pathogenic|likely pathogenic |
NM_001320.7(CSNK2B):c.365T>C (p.Ile122Thr) |
single nucleotide variant |
not provided [RCV002474155] |
Chr6:31669170 [GRCh38] Chr6:31636947 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.569T>C (p.Phe190Ser) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV002470194] |
Chr6:31669847 [GRCh38] Chr6:31637624 [GRCh37] Chr6:6p21.33 |
likely pathogenic|uncertain significance |
NM_001320.7(CSNK2B):c.592dup (p.Gln198fs) |
duplication |
Poirier-Bienvenu neurodevelopmental syndrome [RCV002468693] |
Chr6:31669868..31669869 [GRCh38] Chr6:31637645..31637646 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.286C>T (p.Gln96Ter) |
single nucleotide variant |
not provided [RCV002300878] |
Chr6:31668649 [GRCh38] Chr6:31636426 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.558-11C>T |
single nucleotide variant |
not specified [RCV002308681] |
Chr6:31669825 [GRCh38] Chr6:31637602 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.116T>C (p.Leu39Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002712549] |
Chr6:31667911 [GRCh38] Chr6:31635688 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.67T>C (p.Cys23Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002717833] |
Chr6:31666898 [GRCh38] Chr6:31634675 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.464_467del (p.Asp155fs) |
deletion |
Inborn genetic diseases [RCV002831557]|not provided [RCV004786857] |
Chr6:31669413..31669416 [GRCh38] Chr6:31637190..31637193 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.291+5G>C |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV003149116] |
Chr6:31668659 [GRCh38] Chr6:31636436 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.368G>A (p.Gly123Asp) |
single nucleotide variant |
not provided [RCV003327745] |
Chr6:31669319 [GRCh38] Chr6:31637096 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.257G>A (p.Arg86His) |
single nucleotide variant |
not provided [RCV003229322] |
Chr6:31668620 [GRCh38] Chr6:31636397 [GRCh37] Chr6:6p21.33 |
pathogenic|conflicting interpretations of pathogenicity |
NM_001320.7(CSNK2B):c.475T>G (p.Phe159Val) |
single nucleotide variant |
not provided [RCV003229317] |
Chr6:31669426 [GRCh38] Chr6:31637203 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.310G>T (p.Gly104Ter) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV003225013] |
Chr6:31669115 [GRCh38] Chr6:31636892 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.557+1G>C |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV003143862] |
Chr6:31669509 [GRCh38] Chr6:31637286 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.501C>T (p.Leu167=) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV003225802] |
Chr6:31669452 [GRCh38] Chr6:31637229 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.278G>T (p.Gly93Val) |
single nucleotide variant |
not provided [RCV003327262] |
Chr6:31668641 [GRCh38] Chr6:31636418 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.124C>T (p.Gln42Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV004614421]|Poirier-Bienvenu neurodevelopmental syndrome [RCV003330297]|not provided [RCV004823148] |
Chr6:31667919 [GRCh38] Chr6:31635696 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.581C>T (p.Pro194Leu) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV003340718] |
Chr6:31669859 [GRCh38] Chr6:31637636 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.192del (p.Asp64fs) |
deletion |
not provided [RCV003334278] |
Chr6:31668555 [GRCh38] Chr6:31636332 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.341G>A (p.Cys114Tyr) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV004795810] |
Chr6:31669146 [GRCh38] Chr6:31636923 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.582G>A (p.Pro194=) |
single nucleotide variant |
not provided [RCV003431757] |
Chr6:31669860 [GRCh38] Chr6:31637637 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_001320.7(CSNK2B):c.13G>T (p.Glu5Ter) |
single nucleotide variant |
not provided [RCV003431756] |
Chr6:31666844 [GRCh38] Chr6:31634621 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.505A>G (p.Met169Val) |
single nucleotide variant |
CSNK2B-related disorder [RCV003397536] |
Chr6:31669456 [GRCh38] Chr6:31637233 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.175+1G>A |
single nucleotide variant |
CSNK2B-related disorder [RCV003397265]|Poirier-Bienvenu neurodevelopmental syndrome [RCV004798041] |
Chr6:31667971 [GRCh38] Chr6:31635748 [GRCh37] Chr6:6p21.33 |
pathogenic|likely pathogenic |
NM_001320.7(CSNK2B):c.289A>G (p.Met97Val) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV003885413] |
Chr6:31668652 [GRCh38] Chr6:31636429 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.6C>T (p.Ser2=) |
single nucleotide variant |
CSNK2B-related disorder [RCV003952045] |
Chr6:31666837 [GRCh38] Chr6:31634614 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_021221.3(LY6G5B):c.-3007T>C |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV003983759] |
Chr6:31667944 [GRCh38] Chr6:31635721 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.252C>T (p.His84=) |
single nucleotide variant |
CSNK2B-related disorder [RCV003964014] |
Chr6:31668615 [GRCh38] Chr6:31636392 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_001320.7(CSNK2B):c.292T>C (p.Leu98=) |
single nucleotide variant |
CSNK2B-related disorder [RCV003966810] |
Chr6:31669097 [GRCh38] Chr6:31636874 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_001320.7(CSNK2B):c.462G>A (p.Thr154=) |
single nucleotide variant |
CSNK2B-related disorder [RCV003961971] |
Chr6:31669413 [GRCh38] Chr6:31637190 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_001320.7(CSNK2B):c.95A>C (p.Asp32Ala) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV003885419] |
Chr6:31667890 [GRCh38] Chr6:31635667 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.639G>A (p.Thr213=) |
single nucleotide variant |
CSNK2B-related disorder [RCV003954591] |
Chr6:31669917 [GRCh38] Chr6:31637694 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_001320.7(CSNK2B):c.59_62dup (p.Phe21fs) |
duplication |
not provided [RCV003887744] |
Chr6:31666889..31666890 [GRCh38] Chr6:31634666..31634667 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.-1G>C |
single nucleotide variant |
CSNK2B-related disorder [RCV003957109] |
Chr6:31666831 [GRCh38] Chr6:31634608 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_001320.7(CSNK2B):c.203A>T (p.Gln68Leu) |
single nucleotide variant |
not provided [RCV004585465] |
Chr6:31668566 [GRCh38] Chr6:31636343 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NC_000006.11:g.(?_31631971)_(31895135_?)del |
deletion |
not provided [RCV004578802] |
Chr6:31631971..31895135 [GRCh37] Chr6:6p21.33 |
pathogenic |
NC_000006.11:g.(?_31620520)_(31937492_?)del |
deletion |
not provided [RCV004578883] |
Chr6:31620520..31937492 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.367+1G>C |
single nucleotide variant |
not provided [RCV004697366] |
Chr6:31669173 [GRCh38] Chr6:31636950 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.422T>C (p.Met141Thr) |
single nucleotide variant |
not provided [RCV004592461] |
Chr6:31669373 [GRCh38] Chr6:31637150 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.408C>G (p.Tyr136Ter) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV004594924] |
Chr6:31669359 [GRCh38] Chr6:31637136 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.463G>C (p.Asp155His) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV004594926] |
Chr6:31669414 [GRCh38] Chr6:31637191 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.216dup (p.Glu73Ter) |
duplication |
not provided [RCV004696835] |
Chr6:31668577..31668578 [GRCh38] Chr6:31636354..31636355 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.419_420delinsTA (p.Cys140Leu) |
indel |
not provided [RCV004779941] |
Chr6:31669370..31669371 [GRCh38] Chr6:31637147..31637148 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.3G>A (p.Met1Ile) |
single nucleotide variant |
not provided [RCV004727286] |
Chr6:31666834 [GRCh38] Chr6:31634611 [GRCh37] Chr6:6p21.33 |
pathogenic|likely pathogenic |
NM_001320.7(CSNK2B):c.558-2A>G |
single nucleotide variant |
not provided [RCV004727677] |
Chr6:31669834 [GRCh38] Chr6:31637611 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.647G>C (p.Ter216Ser) |
single nucleotide variant |
not provided [RCV004759867] |
|
uncertain significance |
NM_001320.7(CSNK2B):c.409T>C (p.Cys137Arg) |
single nucleotide variant |
not provided [RCV004727676] |
Chr6:31669360 [GRCh38] Chr6:31637137 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.516C>T (p.Pro172=) |
single nucleotide variant |
not provided [RCV004727222] |
Chr6:31669467 [GRCh38] Chr6:31637244 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_001320.7(CSNK2B):c.558-2A>C |
single nucleotide variant |
CSNK2B-related disorder [RCV004739039] |
Chr6:31669834 [GRCh38] Chr6:31637611 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.481del (p.Thr161fs) |
deletion |
Poirier-Bienvenu neurodevelopmental syndrome [RCV004798689] |
Chr6:31669432 [GRCh38] Chr6:31637209 [GRCh37] Chr6:6p21.33 |
pathogenic |
GRCh37/hg19 6p21.33(chr6:31630124-31657924)x1 |
copy number loss |
Poirier-Bienvenu neurodevelopmental syndrome [RCV004767742] |
Chr6:31630124..31657924 [GRCh37] Chr6:6p21.33 |
likely pathogenic |
NM_001320.7(CSNK2B):c.517G>A (p.Glu173Lys) |
single nucleotide variant |
not specified [RCV004702975] |
Chr6:31669468 [GRCh38] Chr6:31637245 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.475T>C (p.Phe159Leu) |
single nucleotide variant |
Poirier-Bienvenu neurodevelopmental syndrome [RCV005052285] |
Chr6:31669426 [GRCh38] Chr6:31637203 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_001320.7(CSNK2B):c.19dup (p.Val7fs) |
duplication |
not provided [RCV005052434] |
Chr6:31666848..31666849 [GRCh38] Chr6:31634625..31634626 [GRCh37] Chr6:6p21.33 |
pathogenic |
NM_001320.7(CSNK2B):c.367+3_367+5delinsAAA |
indel |
Inborn genetic diseases [RCV004979264] |
Chr6:31669175..31669177 [GRCh38] Chr6:31636952..31636954 [GRCh37] Chr6:6p21.33 |
likely pathogenic |