ClinVar Miner

List of variants studied for cobblestone lissencephaly by OMIM

Included ClinVar conditions (33):
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ClinVar version:
Total variants: 69
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HGVS dbSNP
LARGE1, 63-KB DEL
LARGE1, GLN87FS
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.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.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.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_001165928.3(DAG1):c.2006G>T (p.Cys669Phe) rs797045023
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.992C>T (p.Ser331Phe) rs267607210
NM_006731.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675
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.1260_1262del (p.Leu421del) rs587777818
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.226G>A (p.Gly76Arg) rs28941782
NM_007171.3(POMT1):c.418_420del (p.Met140del) rs587777820
NM_007171.3(POMT1):c.907C>T (p.Gln303Ter) rs119462981
NM_013334.3(GMPPB):c.220C>T (p.Arg74Ter) rs397509423
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.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_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.139del (p.Ala47fs) rs397514696
NM_014254.3(RXYLT1):c.279del (p.Gly94fs) rs397514546
NM_014254.3(RXYLT1):c.795del (p.Arg266fs) rs397514543
NM_021971.2(GMPPB):c.1000G>A rs397509422
NM_024301.5(FKRP):c.1A>G (p.Met1Val) rs587777223
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692
NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr) rs104894684
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_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.740G>A (p.Gly247Glu) rs367543072
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly) rs367543073
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) rs367543074
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro) rs367543076
POMT2, IVS12AS, G-A, -14

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