ClinVar Miner

List of variants reported as pathogenic for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 162
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HGVS dbSNP
LARGE1, 63-KB DEL
LARGE1, GLN87FS
NC_000001.10:g.(?_235628916)_(235629051_?)del
NC_000007.13:g.(?_16131300)_(16255842_?)del
NC_000007.13:g.(?_16255671)_(16415886_?)del
NC_000007.13:g.(?_16341026)_(16348272_?)del
NC_000007.13:g.(?_16341036)_(16348262_?)del
NC_000007.13:g.(?_16348138)_(16415876_?)del
NC_000007.13:g.(?_16348148)_(16729531_?)del
NC_000008.10:g.(?_42958682)_(42958983_?)del
NC_000009.11:g.(?_108308639)_(108382342_?)del
NC_000019.9:g.(?_47258688)_(47260215_?)del
NM_001101426.3(CRPPA):c.(535_684)+6399_(535_684)+14526del
NM_001101426.3(CRPPA):c.535-?_933+?del
NM_001101426.4(CRPPA):c.1120-1G>T rs397515396
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) rs1202301143
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)
NM_001101426.4(CRPPA):c.256A>T (p.Arg86Ter) rs397514548
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398
NM_001101426.4(CRPPA):c.364G>C (p.Ala122Pro) rs387907162
NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn) rs397514547
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302
NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg) rs397515408
NM_001101426.4(CRPPA):c.647C>A (p.Ala216Asp) rs387907160
NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile) rs397515409
NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter)
NM_001101426.4(CRPPA):c.789+2T>G rs397515397
NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter) rs368593151
NM_001101426.4(CRPPA):c.832A>T (p.Lys278Ter) rs387907161
NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs) rs1554305719
NM_001165928.3(DAG1):c.2006G>T (p.Cys669Phe) rs797045023
NM_001165928.3(DAG1):c.235C>T (p.Arg79Ter)
NM_001165928.3(DAG1):c.440del (p.Gln147fs) rs1553652503
NM_001165928.3(DAG1):c.743del (p.Ala248fs) rs869320680
NM_002291.3(LAMB1):c.1442G>T (p.Cys481Phe) rs879255267
NM_002291.3(LAMB1):c.2109+1G>T rs387907344
NM_002291.3(LAMB1):c.2931del (p.Gln977fs) rs879255266
NM_002291.3(LAMB1):c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT (p.Lys1049_Gln1053delinsProValLeuValSerSerTer) rs387907343
NM_004737.6(LARGE1):c.1483T>C (p.Trp495Arg) rs267607209
NM_004737.6(LARGE1):c.283C>T (p.Arg95Ter) rs761071115
NM_004737.6(LARGE1):c.992C>T (p.Ser331Phe) rs267607210
NM_006731.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_006731.2(FKTN):c.1153A>T (p.Lys385Ter)
NM_006731.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_006731.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990
NM_006731.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs) rs1564290459
NM_006731.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512
NM_006731.2(FKTN):c.432del (p.Arg146fs)
NM_006731.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_006731.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506
NM_006731.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_006731.2(FKTN):c.868A>T (p.Lys290Ter)
NM_006731.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814
NM_006876.2(B4GAT1):[c.1168A>G;c.1217C>T]
NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs) rs730882237
NM_007171.3(POMT1):c.1044C>A (p.Tyr348Ter)
NM_007171.3(POMT1):c.1056T>A (p.Tyr352Ter) rs765230689
NM_007171.3(POMT1):c.1153C>T (p.Gln385Ter) rs200056620
NM_007171.3(POMT1):c.1260_1262del (p.Leu421del) rs587777818
NM_007171.3(POMT1):c.1261_1262del (p.Leu421fs) rs1564364615
NM_007171.3(POMT1):c.1427T>G (p.Leu476Ter) rs1554780670
NM_007171.3(POMT1):c.1864C>T (p.Arg622Ter) rs794727208
NM_007171.3(POMT1):c.1903_1918dup (p.Gly640fs)
NM_007171.3(POMT1):c.2110dup (p.Ala704fs) rs587777817
NM_007171.3(POMT1):c.2167dup (p.Asp723fs) rs398124245
NM_007171.3(POMT1):c.2177_2178TC[1] (p.Ser727fs) rs587777819
NM_007171.3(POMT1):c.2210_2213dup (p.Asp738fs)
NM_007171.3(POMT1):c.226G>A (p.Gly76Arg) rs28941782
NM_007171.3(POMT1):c.418_420del (p.Met140del) rs587777820
NM_007171.3(POMT1):c.605+1G>C rs766648827
NM_007171.3(POMT1):c.606del (p.Ile203fs)
NM_007171.3(POMT1):c.761del (p.Gln254fs) rs1356791510
NM_007171.3(POMT1):c.907C>T (p.Gln303Ter) rs119462981
NM_013334.3(GMPPB):c.220C>T (p.Arg74Ter) rs397509423
NM_013334.3(GMPPB):c.271_283del (p.Ala91fs)
NM_013334.3(GMPPB):c.365_366dup (p.Phe123fs) rs1553691975
NM_013334.3(GMPPB):c.456_457CA[1] (p.Thr153fs) rs1553691918
NM_013334.3(GMPPB):c.553C>T (p.Arg185Cys) rs397509425
NM_013334.3(GMPPB):c.79G>C (p.Asp27His) rs142336618
NM_013334.3(GMPPB):c.860G>A (p.Arg287Gln) rs202160208
NM_013382.5(POMT2):c.1006+1G>A rs533916138
NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser) rs267606970
NM_013382.5(POMT2):c.1117G>T (p.Val373Phe) rs267606965
NM_013382.5(POMT2):c.1238G>C (p.Arg413Pro) rs190285831
NM_013382.5(POMT2):c.1261del (p.Arg421fs) rs587777815
NM_013382.5(POMT2):c.1293dup (p.Met432fs) rs1555352706
NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter) rs368817785
NM_013382.5(POMT2):c.1445G>T (p.Gly482Val) rs267606968
NM_013382.5(POMT2):c.1912C>T (p.Arg638Ter) rs119463989
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778
NM_013382.5(POMT2):c.2177G>A (p.Gly726Glu) rs267606969
NM_013382.5(POMT2):c.593T>A (p.Ile198Asn) rs267606972
NM_013382.5(POMT2):c.648C>A (p.Cys216Ter) rs147871747
NM_013382.5(POMT2):c.673del (p.Trp225fs)
NM_013382.5(POMT2):c.924-2A>C rs886044256
NM_013382.5(POMT2):c.958C>T (p.Gln320Ter) rs775932206
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997
NM_014254.3(RXYLT1):c.1018C>T (p.Arg340Ter) rs397514695
NM_014254.3(RXYLT1):c.1019_1020delinsTT (p.Arg340Leu) rs397514544
NM_014254.3(RXYLT1):c.1064_1091del (p.Asp355fs) rs397514545
NM_014254.3(RXYLT1):c.123_150del (p.Leu43fs) rs748590408
NM_014254.3(RXYLT1):c.139del (p.Ala47fs) rs397514696
NM_014254.3(RXYLT1):c.279del (p.Gly94fs) rs397514546
NM_014254.3(RXYLT1):c.649del (p.Arg217fs) rs948674144
NM_014254.3(RXYLT1):c.795del (p.Arg266fs) rs397514543
NM_017739.3(POMGNT1):c.1285-2A>G rs386834012
NM_017739.3(POMGNT1):c.1340_1344CTGGG[2] (p.Trp451fs) rs386834015
NM_017739.3(POMGNT1):c.1413+1G>C rs587777821
NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960
NM_017739.3(POMGNT1):c.1539+1G>A rs138642840
NM_017739.3(POMGNT1):c.1539+1G>T rs138642840
NM_017739.3(POMGNT1):c.458C>G (p.Ser153Ter) rs1048865247
NM_021971.2(GMPPB):c.1000G>A rs397509422
NM_021971.2(GMPPB):c.656T>C (p.Ile219Thr)
NM_021971.2(GMPPB):c.790C>T (p.Gln264Ter)
NM_021971.2(GMPPB):c.859C>T (p.Arg287Trp) rs142908436
NM_021971.2:c.109C>T
NM_024301.5(FKRP):c.-39-2934_564del
NM_024301.5(FKRP):c.1077_1078dup (p.Asp360fs) rs1568419860
NM_024301.5(FKRP):c.1083C>A (p.Tyr361Ter) rs1060502109
NM_024301.5(FKRP):c.1141dup (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter) rs104894680
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110
NM_024301.5(FKRP):c.142del (p.Arg48fs) rs1555738103
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) rs104894682
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs) rs1290836394
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) rs886042506
NM_024301.5(FKRP):c.1A>G (p.Met1Val) rs587777223
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) rs770711331
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) rs775681117
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692
NM_024301.5(FKRP):c.948del (p.Cys317fs)
NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr) rs104894684
NM_032237.5(POMK):c.238_239del (p.Glu80fs) rs1454006905
NM_032237.5(POMK):c.288del (p.Leu97fs) rs606231306
NM_032237.5(POMK):c.325C>T (p.Gln109Ter) rs587777423
NM_032237.5(POMK):c.410T>G (p.Leu137Arg) rs397509385
NM_032237.5(POMK):c.773A>G (p.Gln258Arg) rs397509386
NM_032237.5(POMK):c.905T>A (p.Val302Asp) rs199756983
NM_032806.6(POMGNT2):c.1333C>T (p.Arg445Ter) rs387907299
NM_032806.6(POMGNT2):c.473G>A (p.Arg158His) rs387907300
NM_032806.6(POMGNT2):c.745C>T (p.Gln249Ter) rs1553618354
NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu) rs374042455
NM_152490.5(B3GALNT2):c.1223del (p.Pro408fs) rs1553342786
NM_152490.5(B3GALNT2):c.1423C>T (p.Gln475Ter) rs367543077
NM_152490.5(B3GALNT2):c.306_307TG[1] (p.Val103fs) rs367543070
NM_152490.5(B3GALNT2):c.448C>T (p.Arg150Ter) rs1282726649
NM_152490.5(B3GALNT2):c.51_73dup (p.Ser25fs) rs367543069
NM_152490.5(B3GALNT2):c.699del (p.Val234fs)
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.763-1G>A
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.875G>C (p.Arg292Pro) rs367543076
POMT2, IVS12AS, G-A, -14
Single allele

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