ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as pathogenic for not provided

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Total variants: 139
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HGVS dbSNP
NM_000169.2(GLA):c.1019_1020insA (p.Trp340Ter) rs398123197
NM_000169.2(GLA):c.101A>G (p.Asn34Ser) rs104894835
NM_000169.2(GLA):c.1020G>A (p.Trp340Ter) rs104894842
NM_000169.2(GLA):c.1023del (p.Glu341fs) rs886044909
NM_000169.2(GLA):c.1024C>T (p.Arg342Ter) rs104894843
NM_000169.2(GLA):c.1025G>A (p.Arg342Gln) rs28935493
NM_000169.2(GLA):c.1037del (p.Gly346fs) rs879253990
NM_000169.2(GLA):c.1057_1058del (p.Met353fs) rs886044829
NM_000169.2(GLA):c.1069C>T (p.Gln357Ter)
NM_000169.2(GLA):c.1072G>A (p.Glu358Lys) rs797044774
NM_000169.2(GLA):c.1072_1074del (p.Glu358del) rs730880453
NM_000169.2(GLA):c.1077del (p.Ile359fs) rs1569302692
NM_000169.2(GLA):c.1081G>A (p.Gly361Arg) rs28935494
NM_000169.2(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.2(GLA):c.1087C>T (p.Arg363Cys) rs797044776
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000169.2(GLA):c.1118G>A (p.Gly373Asp) rs869312227
NM_000169.2(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.2(GLA):c.1166del (p.Pro389fs) rs886044846
NM_000169.2(GLA):c.1188del (p.Tyr397fs) rs879253955
NM_000169.2(GLA):c.118C>T (p.Pro40Ser) rs104894831
NM_000169.2(GLA):c.1235_1236del (p.Thr412fs) rs797044777
NM_000169.2(GLA):c.1246C>T (p.Gln416Ter)
NM_000169.2(GLA):c.124A>C (p.Met42Leu) rs797044613
NM_000169.2(GLA):c.124A>G (p.Met42Val)
NM_000169.2(GLA):c.125T>C (p.Met42Thr) rs398123201
NM_000169.2(GLA):c.126G>C (p.Met42Ile) rs1569306108
NM_000169.2(GLA):c.128del (p.Gly43fs) rs797044500
NM_000169.2(GLA):c.132G>A (p.Trp44Ter)
NM_000169.2(GLA):c.137A>G (p.His46Arg) rs398123203
NM_000169.2(GLA):c.137A>T (p.His46Leu) rs398123203
NM_000169.2(GLA):c.154T>C (p.Cys52Arg) rs1057521047
NM_000169.2(GLA):c.188G>A (p.Cys63Tyr) rs1569306022
NM_000169.2(GLA):c.195-1G>C rs398123206
NM_000169.2(GLA):c.195-1G>T rs398123206
NM_000169.2(GLA):c.19G>T (p.Glu7Ter) rs398123207
NM_000169.2(GLA):c.235G>T (p.Glu79Ter)
NM_000169.2(GLA):c.242G>A (p.Trp81Ter) rs398123208
NM_000169.2(GLA):c.265del (p.Leu89fs) rs1555986307
NM_000169.2(GLA):c.26del (p.His9fs) rs1555987215
NM_000169.2(GLA):c.272T>C (p.Ile91Thr)
NM_000169.2(GLA):c.274G>A (p.Asp92Asn) rs886041315
NM_000169.2(GLA):c.274G>T (p.Asp92Tyr) rs886041315
NM_000169.2(GLA):c.281G>A (p.Cys94Tyr) rs113173389
NM_000169.2(GLA):c.285G>A (p.Trp95Ter) rs886044900
NM_000169.2(GLA):c.290C>T (p.Ala97Val) rs1569304867
NM_000169.2(GLA):c.295del (p.Gln99fs) rs886039136
NM_000169.2(GLA):c.295dup (p.Gln99fs) rs886039136
NM_000169.2(GLA):c.2T>C (p.Met1Thr) rs1555987232
NM_000169.2(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000169.2(GLA):c.357_360GCTA[1] (p.Ala121fs) rs797044670
NM_000169.2(GLA):c.369+1G>A rs797044669
NM_000169.2(GLA):c.370-2A>G rs730880444
NM_000169.2(GLA):c.394G>A (p.Gly132Arg) rs1555985855
NM_000169.2(GLA):c.402T>G (p.Tyr134Ter) rs1183869568
NM_000169.2(GLA):c.422C>T (p.Thr141Ile) rs886044843
NM_000169.2(GLA):c.424T>C (p.Cys142Arg) rs886044845
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.2(GLA):c.443G>A (p.Ser148Asn) rs1555985829
NM_000169.2(GLA):c.456C>A (p.Tyr152Ter) rs1555985827
NM_000169.2(GLA):c.469C>T (p.Gln157Ter) rs797044702
NM_000169.2(GLA):c.485G>A (p.Trp162Ter) rs727504350
NM_000169.2(GLA):c.509A>G (p.Asp170Gly) rs398123210
NM_000169.2(GLA):c.547G>A (p.Gly183Ser) rs869312324
NM_000169.2(GLA):c.548-1G>A rs730880447
NM_000169.2(GLA):c.548-2A>G rs398123211
NM_000169.2(GLA):c.548G>A (p.Gly183Asp)
NM_000169.2(GLA):c.548G>T (p.Gly183Val) rs398123212
NM_000169.2(GLA):c.59_72dup (p.Asp25fs) rs1555987175
NM_000169.2(GLA):c.59_84del (p.Ala20fs) rs1555987162
NM_000169.2(GLA):c.605G>A (p.Cys202Tyr) rs869312344
NM_000169.2(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.2(GLA):c.620A>G (p.Tyr207Cys) rs797044727
NM_000169.2(GLA):c.630del (p.Gln212fs) rs398123214
NM_000169.2(GLA):c.639+919G>A rs199473684
NM_000169.2(GLA):c.640-1G>A
NM_000169.2(GLA):c.640-1G>T rs398123216
NM_000169.2(GLA):c.644A>G (p.Asn215Ser) rs28935197
NM_000169.2(GLA):c.647A>G (p.Tyr216Cys) rs398123217
NM_000169.2(GLA):c.658C>T (p.Arg220Ter) rs727503949
NM_000169.2(GLA):c.661C>T (p.Gln221Ter) rs797044747
NM_000169.2(GLA):c.662_663del (p.Gln221fs) rs398123218
NM_000169.2(GLA):c.666C>A (p.Tyr222Ter) rs104894851
NM_000169.2(GLA):c.670A>G (p.Asn224Asp) rs1555985175
NM_000169.2(GLA):c.677G>A (p.Trp226Ter) rs398123219
NM_000169.2(GLA):c.679C>T (p.Arg227Ter) rs104894841
NM_000169.2(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.2(GLA):c.704C>G (p.Ser235Cys) rs797044746
NM_000169.2(GLA):c.706T>A (p.Trp236Arg) rs1555985148
NM_000169.2(GLA):c.707G>A (p.Trp236Ter) rs879254022
NM_000169.2(GLA):c.713G>A (p.Ser238Asn) rs730880450
NM_000169.2(GLA):c.718_719del (p.Lys240fs) rs869312389
NM_000169.2(GLA):c.730G>C (p.Asp244His)
NM_000169.2(GLA):c.734G>A (p.Trp245Ter) rs398123220
NM_000169.2(GLA):c.735G>A (p.Trp245Ter) rs1060500747
NM_000169.2(GLA):c.748C>T (p.Gln250Ter) rs398123221
NM_000169.2(GLA):c.776C>G (p.Pro259Arg) rs869312399
NM_000169.2(GLA):c.777del (p.Gly261fs) rs1569303213
NM_000169.2(GLA):c.785G>A (p.Trp262Ter) rs869312402
NM_000169.2(GLA):c.791A>T (p.Asp264Val) rs28935486
NM_000169.2(GLA):c.797A>T (p.Asp266Val) rs28935487
NM_000169.2(GLA):c.800del (p.Met267fs) rs1569303189
NM_000169.2(GLA):c.801+3A>G rs797044748
NM_000169.2(GLA):c.801G>A (p.Met267Ile) rs730880451
NM_000169.2(GLA):c.802-2A>G rs797044499
NM_000169.2(GLA):c.802-3_802-2del rs797044498
NM_000169.2(GLA):c.80del (p.Pro27fs) rs730880454
NM_000169.2(GLA):c.826A>G (p.Ser276Gly)
NM_000169.2(GLA):c.830G>A (p.Trp277Ter) rs886044766
NM_000169.2(GLA):c.842_844del (p.Val281_Thr282delinsAla) rs1555985004
NM_000169.2(GLA):c.847C>T (p.Gln283Ter) rs730880452
NM_000169.2(GLA):c.848dup (p.Met284fs) rs1555985002
NM_000169.2(GLA):c.861G>T (p.Trp287Cys) rs104894839
NM_000169.2(GLA):c.865A>T (p.Ile289Phe) rs140329381
NM_000169.2(GLA):c.870G>C (p.Met290Ile)
NM_000169.2(GLA):c.879_880delinsAATC (p.Leu294fs) rs797044769
NM_000169.2(GLA):c.886A>G (p.Met296Val) rs104894830
NM_000169.2(GLA):c.899T>C (p.Leu300Pro) rs398123223
NM_000169.2(GLA):c.901C>T (p.Arg301Ter) rs398123224
NM_000169.2(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000169.2(GLA):c.916C>T (p.Gln306Ter) rs797044768
NM_000169.2(GLA):c.95T>C (p.Leu32Pro) rs1569306168
NM_000169.2(GLA):c.966C>A (p.Asp322Glu) rs398123226
NM_000169.2(GLA):c.966C>G (p.Asp322Glu) rs398123226
NM_000169.2(GLA):c.974G>A (p.Gly325Asp) rs398123228
NM_000169.2(GLA):c.979C>T (p.Gln327Ter) rs28935491
NM_000169.2(GLA):c.982G>A (p.Gly328Arg) rs104894832
NM_000169.2(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000169.2(GLA):c.983G>C (p.Gly328Ala) rs28935492
NM_000169.2(GLA):c.996_999del (p.Gln333fs) rs398123229
NM_000169.2(GLA):c.999+2T>C rs886044860
NM_001199973.2(RPL36A-HNRNPH2):c.300+2502_300+2517del rs876661347
NM_001199973.2(RPL36A-HNRNPH2):c.300+2608GA[2] rs398123198
NM_001199973.2(RPL36A-HNRNPH2):c.300+2619T>G rs797044497
NM_001199973.2(RPL36A-HNRNPH2):c.300+2954_300+2957del rs398123225
NM_001199973.2(RPL36A-HNRNPH2):c.300+3399C>T rs727503948
NM_001199973.2(RPL36A-HNRNPH2):c.300+5228_300+5229del rs1064796601

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