ClinVar Miner

List of variants reported as uncertain significance for cobblestone lissencephaly by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 102
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HGVS dbSNP
NM_004737.6(LARGE1):c.*100C>A rs567278765
NM_004737.6(LARGE1):c.*1201A>G rs11544101
NM_004737.6(LARGE1):c.*1235A>G rs1801820
NM_004737.6(LARGE1):c.*455C>T rs886057460
NM_004737.6(LARGE1):c.*479A>T rs886057459
NM_004737.6(LARGE1):c.*499G>A rs886057458
NM_004737.6(LARGE1):c.*501T>C rs886057457
NM_004737.6(LARGE1):c.*580C>T rs776235903
NM_004737.6(LARGE1):c.*770A>T rs886057456
NM_004737.6(LARGE1):c.*796C>T rs144150303
NM_004737.6(LARGE1):c.*798G>A rs778063005
NM_004737.6(LARGE1):c.*823_*824dup rs140177888
NM_004737.6(LARGE1):c.*833A>G rs748248240
NM_004737.6(LARGE1):c.*849C>T rs149508241
NM_004737.6(LARGE1):c.*998A>G rs886057455
NM_004737.6(LARGE1):c.-121G>C rs114574565
NM_004737.6(LARGE1):c.-145-9A>C rs759992064
NM_004737.6(LARGE1):c.-212G>C rs143403352
NM_004737.6(LARGE1):c.-305C>T rs886057462
NM_004737.6(LARGE1):c.-310T>G rs886057463
NM_004737.6(LARGE1):c.-334G>A rs185068235
NM_004737.6(LARGE1):c.-340T>G rs886057464
NM_004737.6(LARGE1):c.-34G>A rs759430272
NM_004737.6(LARGE1):c.-350A>G rs886057465
NM_004737.6(LARGE1):c.-355G>C rs886057466
NM_004737.6(LARGE1):c.-406C>A rs886057467
NM_004737.6(LARGE1):c.-422C>G rs886057468
NM_004737.6(LARGE1):c.-462A>T rs535216289
NM_004737.6(LARGE1):c.-518G>A rs532736408
NM_004737.6(LARGE1):c.-543C>T rs886057469
NM_004737.6(LARGE1):c.-544G>T rs537756491
NM_004737.6(LARGE1):c.1092C>T (p.Thr364=) rs144216539
NM_004737.6(LARGE1):c.1287C>T (p.Asn429=) rs561439887
NM_004737.6(LARGE1):c.1320C>T (p.Asp440=) rs772615481
NM_004737.6(LARGE1):c.163A>G (p.Thr55Ala) rs34642406
NM_004737.6(LARGE1):c.1788G>A (p.Ala596=) rs74550830
NM_004737.6(LARGE1):c.178C>T (p.Arg60Trp) rs142135345
NM_004737.6(LARGE1):c.1962G>A (p.Glu654=) rs141089495
NM_004737.6(LARGE1):c.1994G>A (p.Arg665His) rs1046166
NM_004737.6(LARGE1):c.2073+11C>T rs774384587
NM_004737.6(LARGE1):c.211G>A (p.Glu71Lys) rs116164106
NM_004737.6(LARGE1):c.2208G>A (p.Gln736=) rs759427879
NM_004737.6(LARGE1):c.251G>C (p.Ser84Thr) rs398124184
NM_004737.6(LARGE1):c.26G>A (p.Arg9Gln) rs763697782
NM_004737.6(LARGE1):c.506A>G (p.His169Arg) rs886057461
NM_004737.6(LARGE1):c.552G>A (p.Thr184=) rs8142483
NM_004737.6(LARGE1):c.857G>A (p.Arg286His) rs200035534
NM_006731.2(FKTN):c.*1017A>G rs886063324
NM_006731.2(FKTN):c.*1018T>A rs16924759
NM_006731.2(FKTN):c.*1133A>G rs2768282
NM_006731.2(FKTN):c.*1249C>T rs79589823
NM_006731.2(FKTN):c.*1276C>T rs886063325
NM_006731.2(FKTN):c.*1511A>G rs886063326
NM_006731.2(FKTN):c.*1681G>A rs886063327
NM_006731.2(FKTN):c.*1845G>T rs886063328
NM_006731.2(FKTN):c.*2265T>C rs76003803
NM_006731.2(FKTN):c.*2433G>A rs886063329
NM_006731.2(FKTN):c.*2505A>G rs367988702
NM_006731.2(FKTN):c.*2508G>T rs886063330
NM_006731.2(FKTN):c.*2516G>T rs886063331
NM_006731.2(FKTN):c.*2904G>A rs138806979
NM_006731.2(FKTN):c.*2910C>A rs148937517
NM_006731.2(FKTN):c.*2984C>T rs886063332
NM_006731.2(FKTN):c.*3046T>C rs886063333
NM_006731.2(FKTN):c.*3156A>T rs886063334
NM_006731.2(FKTN):c.*324G>C rs536822992
NM_006731.2(FKTN):c.*3377A>G rs148172557
NM_006731.2(FKTN):c.*3432dup rs879020291
NM_006731.2(FKTN):c.*3547C>T rs886063336
NM_006731.2(FKTN):c.*3861T>C rs185745657
NM_006731.2(FKTN):c.*3918A>G rs17316607
NM_006731.2(FKTN):c.*4238del rs776272545
NM_006731.2(FKTN):c.*42del rs749100291
NM_006731.2(FKTN):c.*436C>T rs886063322
NM_006731.2(FKTN):c.*4599G>A rs886063338
NM_006731.2(FKTN):c.*4825T>C rs115155934
NM_006731.2(FKTN):c.*4940C>G rs886063339
NM_006731.2(FKTN):c.*5003T>G rs886063340
NM_006731.2(FKTN):c.*5041G>A rs1854124
NM_006731.2(FKTN):c.*5062G>A rs1854125
NM_006731.2(FKTN):c.*5161C>T rs886063341
NM_006731.2(FKTN):c.*5260G>T rs2010861
NM_006731.2(FKTN):c.*5303dup rs879263714
NM_006731.2(FKTN):c.*5356C>T rs553575648
NM_006731.2(FKTN):c.*5517T>C rs114655654
NM_006731.2(FKTN):c.*5578G>A rs41277801
NM_006731.2(FKTN):c.*5817A>C rs886063343
NM_006731.2(FKTN):c.*818C>T rs79162268
NM_006731.2(FKTN):c.*954T>A rs886063323
NM_006731.2(FKTN):c.-88-1200del rs727502845
NM_006731.2(FKTN):c.-88-1206T>C rs151250905
NM_006731.2(FKTN):c.-88-1246A>G rs886063318
NM_006731.2(FKTN):c.-89+1G>T rs574535599
NM_006731.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262
NM_006731.2(FKTN):c.1188G>A (p.Lys396=) rs886063320
NM_006731.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_006731.2(FKTN):c.166-4A>G rs193922689
NM_006731.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_006731.2(FKTN):c.277A>G (p.Thr93Ala) rs886063319
NM_006731.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_006731.2(FKTN):c.397A>G (p.Met133Val) rs569778463
NM_006731.2(FKTN):c.681G>A (p.Leu227=) rs142604625

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