ClinVar Miner

List of variants reported as benign for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 115
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HGVS dbSNP
NM_001077365.2(POMT1):c.699+52C>T rs3887873
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803
NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser) rs373134516
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) rs61744487
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789
NM_001101426.4(CRPPA):c.534+13T>A rs6461252
NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg) rs7782939
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) rs187484645
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936
NM_001165928.3(DAG1):c.1233G>A (p.Val411=) rs145765079
NM_001165928.3(DAG1):c.1701C>T (p.Ser567=) rs142579425
NM_001165928.3(DAG1):c.2231G>C (p.Ser744Thr) rs114357468
NM_001165928.3(DAG1):c.2271C>T (p.Ala757=) rs78281659
NM_001165928.3(DAG1):c.2520T>C (p.Thr840=) rs149564053
NM_001165928.3(DAG1):c.259A>G (p.Ile87Val) rs116717961
NM_001165928.3(DAG1):c.331G>A (p.Asp111Asn) rs117209107
NM_001165928.3(DAG1):c.384G>T (p.Val128=) rs143829263
NM_001165928.3(DAG1):c.41G>C (p.Trp14Ser) rs1553648360
NM_004737.6(LARGE1):c.-240C>T rs3210587
NM_004737.6(LARGE1):c.435C>T (p.Ala145=) rs86487
NM_006731.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_006731.2(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_006731.2(FKTN):c.106-10G>A rs148384394
NM_006731.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301
NM_006731.2(FKTN):c.166-4A>G rs193922689
NM_006731.2(FKTN):c.166-6A>G rs41277795
NM_006731.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_006731.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675
NM_006731.2(FKTN):c.42G>A (p.Thr14=) rs78794935
NM_006731.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_006731.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846
NM_006876.3(B4GAT1):c.1161G>A (p.Glu387=) rs139287952
NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr) rs765114036
NM_006876.3(B4GAT1):c.828G>T (p.Val276=) rs142956522
NM_006876.3(B4GAT1):c.987C>T (p.Tyr329=) rs1190625
NM_007171.3(POMT1):c.1113C>T (p.Asp371=) rs3739494
NM_007171.3(POMT1):c.1191C>T (p.His397=) rs35242383
NM_007171.3(POMT1):c.1192G>A (p.Gly398Arg) rs146869947
NM_007171.3(POMT1):c.1215C>T (p.His405=) rs202121299
NM_007171.3(POMT1):c.1299C>A (p.Asp433Glu) rs11243406
NM_007171.3(POMT1):c.1341A>G (p.Glu447=) rs62620174
NM_007171.3(POMT1):c.1482C>T (p.Val494=) rs139687326
NM_007171.3(POMT1):c.1545C>T (p.Tyr515=) rs62636653
NM_007171.3(POMT1):c.1758G>A (p.Arg586=) rs34954751
NM_007171.3(POMT1):c.1764C>T (p.Ser588=) rs150814269
NM_007171.3(POMT1):c.1922C>T (p.Ala641Val) rs12115566
NM_007171.3(POMT1):c.1998C>T (p.Tyr666=) rs146512619
NM_007171.3(POMT1):c.2126C>T (p.Ala709Val) rs138171526
NM_007171.3(POMT1):c.2181G>A (p.Ser727=) rs76092524
NM_007171.3(POMT1):c.2203C>T (p.Arg735Cys) rs147266709
NM_007171.3(POMT1):c.752G>A (p.Arg251Gln) rs2296949
NM_007171.3(POMT1):c.78G>A (p.Gly26=) rs149554732
NM_007171.3(POMT1):c.942C>T (p.Thr314=) rs10901065
NM_007171.3(POMT1):c.957G>A (p.Leu319=) rs76109289
NM_007171.3(POMT1):c.979G>A (p.Val327Ile) rs4740164
NM_013334.3(GMPPB):c.330C>T (p.Asp110=) rs11547261
NM_013334.3(GMPPB):c.376C>G (p.His126Asp) rs34345884
NM_013334.3(GMPPB):c.551G>A (p.Arg184Gln) rs1466685
NM_013382.5(POMT2):c.1262G>A (p.Arg421Gln) rs151078549
NM_013382.5(POMT2):c.1383A>G (p.Arg461=) rs2270419
NM_013382.5(POMT2):c.1537A>G (p.Asn513Asp) rs117173425
NM_013382.5(POMT2):c.1593G>A (p.Leu531=) rs147934334
NM_013382.5(POMT2):c.161C>A (p.Ala54Glu) rs8177536
NM_013382.5(POMT2):c.1683T>C (p.Asn561=) rs146307965
NM_013382.5(POMT2):c.1881G>A (p.Ala627=) rs146588608
NM_013382.5(POMT2):c.1911G>T (p.Leu637=) rs3209079
NM_013382.5(POMT2):c.1935C>T (p.Leu645=) rs141193672
NM_013382.5(POMT2):c.2057G>A (p.Arg686Gln) rs200163818
NM_013382.5(POMT2):c.2175C>T (p.Tyr725=) rs116434191
NM_013382.5(POMT2):c.652G>A (p.Asp218Asn) rs140785104
NM_013382.5(POMT2):c.66C>T (p.Gly22=) rs200670377
NM_013382.5(POMT2):c.924-10C>T rs142122657
NM_014254.3(RXYLT1):c.1226A>G (p.Glu409Gly) rs141536395
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=) rs141095352
NM_014254.3(RXYLT1):c.275C>T (p.Thr92Met) rs73122634
NM_014254.3(RXYLT1):c.294C>T (p.Leu98=) rs114694892
NM_014254.3(RXYLT1):c.469G>A (p.Val157Ile) rs114036100
NM_014254.3(RXYLT1):c.603C>T (p.Leu201=) rs146732392
NM_014254.3(RXYLT1):c.825G>A (p.Thr275=) rs115076664
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928
NM_024301.5(FKRP):c.1027G>C (p.Glu343Gln) rs587780334
NM_024301.5(FKRP):c.1179A>G (p.Val393=) rs145894568
NM_024301.5(FKRP):c.1440C>T (p.Asn480=) rs115365212
NM_024301.5(FKRP):c.192C>T (p.Pro64=) rs111754012
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647
NM_024301.5(FKRP):c.567C>T (p.Pro189=) rs201454433
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578
NM_024301.5(FKRP):c.636G>A (p.Ala212=) rs370099812
NM_032237.5(POMK):c.1006G>A (p.Asp336Asn) rs113361507
NM_032237.5(POMK):c.618C>T (p.Asn206=) rs7005111
NM_032237.5(POMK):c.624G>C (p.Leu208=) rs34040483
NM_032237.5(POMK):c.714C>T (p.Ser238=) rs148949414
NM_032237.5(POMK):c.795C>T (p.Asp265=) rs36071326
NM_032237.5(POMK):c.902T>C (p.Met301Thr) rs33920561
NM_032806.6(POMGNT2):c.1233G>A (p.Gln411=) rs9811883
NM_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp) rs147175064
NM_032806.6(POMGNT2):c.1385G>T (p.Arg462Leu) rs34083889
NM_032806.6(POMGNT2):c.1488C>T (p.Gly496=) rs35207939
NM_032806.6(POMGNT2):c.239G>A (p.Arg80His) rs146511234
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met) rs149948290
NM_032806.6(POMGNT2):c.450A>G (p.Pro150=) rs142190930
NM_032806.6(POMGNT2):c.537G>C (p.Leu179=) rs149932476
NM_032806.6(POMGNT2):c.762G>A (p.Lys254=) rs115870061
NM_032806.6(POMGNT2):c.966C>G (p.Ser322=) rs141319921
NM_152490.5(B3GALNT2):c.152A>G (p.Tyr51Cys) rs61742900
NM_152490.5(B3GALNT2):c.397G>A (p.Glu133Lys) rs146090744
NM_152490.5(B3GALNT2):c.465C>T (p.Ile155=) rs138058326
NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His) rs201345883

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