ClinVar Miner

List of variants reported as likely pathogenic for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 146
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HGVS dbSNP
NC_000007.13:g.(?_16297995)_(16298657_?)del
NC_000007.13:g.(?_16298005)_(16298647_?)del
NC_000007.13:g.(?_16415697)_(16415886_?)del
NM_001079802.1(FKTN):c.528dupT
NM_001101426.4(CRPPA):c.1105_1107GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.258-1G>C rs767978961
NM_001101426.4(CRPPA):c.835+2T>C
NM_001165928.3(DAG1):c.454_467del (p.Phe152fs) rs1553652513
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010
NM_002291.3(LAMB1):c.2684G>A (p.Cys895Tyr) rs1554406824
NM_002291.3(LAMB1):c.4393G>A (p.Val1465Ile) rs1554402678
NM_004737.6(LARGE1):c.1033_1034dup (p.Asn345fs) rs1569112355
NM_006731.2(FKTN):c.-1_2del (p.Met1del) rs1180986256
NM_006731.2(FKTN):c.106-2A>G rs1554748292
NM_006731.2(FKTN):c.1099del (p.Val367fs) rs1554761310
NM_006731.2(FKTN):c.109G>T (p.Gly37Ter) rs773884973
NM_006731.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_006731.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_006731.2(FKTN):c.1129_1130del (p.Met377fs) rs1554761402
NM_006731.2(FKTN):c.1172+1G>A rs1554761462
NM_006731.2(FKTN):c.1173-1G>A rs557699482
NM_006731.2(FKTN):c.1173-1G>C rs557699482
NM_006731.2(FKTN):c.1173-2A>G rs1554766808
NM_006731.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_006731.2(FKTN):c.370-2A>G rs1554752805
NM_006731.2(FKTN):c.429del (p.Asp144fs) rs1057516258
NM_006731.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512
NM_006731.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_006731.2(FKTN):c.648-1243G>T rs1554754182
NM_006731.2(FKTN):c.658_661del (p.Gln220fs) rs1057517160
NM_006731.2(FKTN):c.770del (p.Ala257fs) rs1057516966
NM_006731.2(FKTN):c.780+1G>A rs370819786
NM_006731.2(FKTN):c.780+2T>C
NM_006731.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814
NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs) rs730882237
NM_007171.3(POMT1):c.1053-2A>C rs1453773610
NM_007171.3(POMT1):c.1338+2T>C rs1564365317
NM_007171.3(POMT1):c.1958C>T (p.Pro653Leu) rs149682171
NM_007171.3(POMT1):c.2005G>A (p.Ala669Thr) rs119462987
NM_007171.3(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_007171.3(POMT1):c.558G>A (p.Trp186Ter) rs772370177
NM_013334.3(GMPPB):c.1069G>A (p.Val357Ile) rs199922550
NM_013382.5(POMT2):c.1485-2_1485-1del rs1185491348
NM_013382.5(POMT2):c.1752_1753CA[1] (p.Thr585fs) rs1555351894
NM_013382.5(POMT2):c.248+1G>C
NM_013382.5(POMT2):c.49_50delinsA (p.Arg18fs) rs1555356398
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997
NM_014254.3(RXYLT1):c.170-1del rs1565898123
NM_014254.3(RXYLT1):c.390G>A (p.Trp130Ter) rs1565899712
NM_014254.3(RXYLT1):c.743+1G>A
NM_014254.3(RXYLT1):c.970C>T (p.Gln324Ter) rs1555228198
NM_017739.3(POMGNT1):c.1011dup (p.Asp338Ter) rs751254522
NM_017739.3(POMGNT1):c.1027-2_1027-1del rs1057516536
NM_017739.3(POMGNT1):c.1102_1103GT[1] (p.Gln370fs) rs1553163360
NM_017739.3(POMGNT1):c.1113del (p.Tyr372fs) rs1057517369
NM_017739.3(POMGNT1):c.1152+2T>C rs1553163335
NM_017739.3(POMGNT1):c.121-2A>G rs1057516871
NM_017739.3(POMGNT1):c.1212-1G>C rs1553163254
NM_017739.3(POMGNT1):c.1274G>C (p.Trp425Ser) rs386834011
NM_017739.3(POMGNT1):c.1284+2_1284+19del rs1057516409
NM_017739.3(POMGNT1):c.1285-2A>G rs386834012
NM_017739.3(POMGNT1):c.1319T>G (p.Leu440Arg) rs386834013
NM_017739.3(POMGNT1):c.1340_1344CTGGG[2] (p.Trp451fs) rs386834015
NM_017739.3(POMGNT1):c.1342G>C (p.Gly448Arg) rs386834014
NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960
NM_017739.3(POMGNT1):c.1538_1539+2del rs1057516576
NM_017739.3(POMGNT1):c.1539+1G>A rs138642840
NM_017739.3(POMGNT1):c.1539+1del rs1553163077
NM_017739.3(POMGNT1):c.1540-2A>G rs386834016
NM_017739.3(POMGNT1):c.1562del (p.Lys521fs) rs1057517422
NM_017739.3(POMGNT1):c.1604+1G>A rs1553162873
NM_017739.3(POMGNT1):c.1604+2T>C rs1553162872
NM_017739.3(POMGNT1):c.1605-1G>C rs770219373
NM_017739.3(POMGNT1):c.1649+2T>G rs1268759044
NM_017739.3(POMGNT1):c.1649G>A (p.Ser550Asn) rs193919335
NM_017739.3(POMGNT1):c.1692_1693CT[1] (p.Ser565fs) rs1057516903
NM_017739.3(POMGNT1):c.1695_1698del (p.Phe566fs) rs1057516986
NM_017739.3(POMGNT1):c.1719del (p.His573fs) rs386834017
NM_017739.3(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018
NM_017739.3(POMGNT1):c.1741_1745del (p.Met581fs) rs749332339
NM_017739.3(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019
NM_017739.3(POMGNT1):c.1785+2T>G rs386834020
NM_017739.3(POMGNT1):c.1786-1G>A rs1457667479
NM_017739.3(POMGNT1):c.1786-2A>G rs1057517340
NM_017739.3(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017739.3(POMGNT1):c.1852A>T (p.Lys618Ter) rs1553162663
NM_017739.3(POMGNT1):c.185_186insA (p.Arg63fs) rs1057517153
NM_017739.3(POMGNT1):c.1864del (p.Leu622fs) rs386834021
NM_017739.3(POMGNT1):c.1876del (p.Val626fs) rs386834022
NM_017739.3(POMGNT1):c.1895+1G>A rs386834024
NM_017739.3(POMGNT1):c.1895+1G>C rs386834024
NM_017739.3(POMGNT1):c.1895+1G>T rs386834024
NM_017739.3(POMGNT1):c.1895+5_1895+8del rs386834023
NM_017739.3(POMGNT1):c.1896-1G>C rs386834025
NM_017739.3(POMGNT1):c.1905del (p.Lys635fs) rs1553162601
NM_017739.3(POMGNT1):c.1928del (p.Phe643fs) rs386834026
NM_017739.3(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer) rs1553164129
NM_017739.3(POMGNT1):c.236-1G>T rs1057516477
NM_017739.3(POMGNT1):c.25dup (p.Leu9fs) rs386834027
NM_017739.3(POMGNT1):c.351del (p.Thr118fs) rs386834028
NM_017739.3(POMGNT1):c.354+1G>A rs1057517449
NM_017739.3(POMGNT1):c.447del (p.Phe149fs) rs386834029
NM_017739.3(POMGNT1):c.478del (p.Met160fs) rs1057517355
NM_017739.3(POMGNT1):c.526A>C (p.Thr176Pro) rs386834030
NM_017739.3(POMGNT1):c.593del (p.Ser198fs) rs386834031
NM_017739.3(POMGNT1):c.594C>G (p.Ser198Arg) rs386834032
NM_017739.3(POMGNT1):c.60_63delinsGTGA (p.Ser20_Trp21delinsArgTer) rs1057516478
NM_017739.3(POMGNT1):c.630G>T (p.Trp210Cys) rs386834033
NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034
NM_017739.3(POMGNT1):c.652+1G>A rs386834035
NM_017739.3(POMGNT1):c.653-2A>C rs1553163721
NM_017739.3(POMGNT1):c.667G>A (p.Glu223Lys) rs386834036
NM_017739.3(POMGNT1):c.806G>A (p.Cys269Tyr) rs386834037
NM_017739.3(POMGNT1):c.875del (p.Asp292fs) rs1057517247
NM_017739.3(POMGNT1):c.879+1G>C rs1553163590
NM_017739.3(POMGNT1):c.879+2T>C rs1057516318
NM_017739.3(POMGNT1):c.879+5G>A rs386834038
NM_017739.3(POMGNT1):c.879+5G>T rs386834038
NM_017739.3(POMGNT1):c.880-1G>A rs1317832573
NM_017739.3(POMGNT1):c.880-2A>G rs1057516830
NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039
NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336
NM_017739.3(POMGNT1):c.982dup (p.Val328fs) rs386834040
NM_017739.3(POMGNT1):c.987del (p.Pro330fs) rs1057516955
NM_021971.2(GMPPB):c.1000G>A rs397509422
NM_021971.2(GMPPB):c.1070G>A (p.Arg357His)
NM_021971.2(GMPPB):c.402+1G>A
NM_021971.2(GMPPB):c.640+1G>A
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681
NM_024301.5(FKRP):c.402_403del (p.Arg134_Ala135insTer) rs886041004
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter) rs886044183
NM_032806.6(POMGNT2):c.1042C>T (p.Gln348Ter)
NM_152490.4(B3GALNT2):c.[1438_1455dup18];[979G>A]
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842
NM_152490.5(B3GALNT2):c.652-2A>G rs1553347936
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly) rs367543073
NM_152490.5(B3GALNT2):c.762+1G>A rs757347274
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) rs367543074
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152490.5(B3GALNT2):c.842-1G>C
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro) rs367543076

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