ClinVar Miner

List of variants in gene GAA reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 208
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HGVS dbSNP
NM_000152.3(GAA):c.1019A>G (p.Tyr340Cys) rs144857480
NM_000152.3(GAA):c.1123C>T (p.Arg375Cys) rs372486238
NM_000152.3(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.3(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.3(GAA):c.1378G>A (p.Glu460Lys) rs771213237
NM_000152.3(GAA):c.1504A>G (p.Met502Val) rs376067362
NM_000152.3(GAA):c.1630G>A (p.Val544Met) rs567695610
NM_000152.3(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.3(GAA):c.2156C>A (p.Ala719Glu) rs146762316
NM_000152.3(GAA):c.32G>A (p.Arg11Gln) rs138812846
NM_000152.3(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.3(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.3(GAA):c.841C>T (p.Arg281Trp) rs142967546
NM_000152.3(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000152.4(GAA):c.1000G>T (p.Gly334Cys) rs886042960
NM_000152.4(GAA):c.1053G>T (p.Val351=) rs773063199
NM_000152.4(GAA):c.1075+4G>A rs754290055
NM_000152.4(GAA):c.1075+9T>C rs751918816
NM_000152.4(GAA):c.1082C>G (p.Pro361Arg) rs755253527
NM_000152.4(GAA):c.1083G>A (p.Pro361=) rs781379047
NM_000152.4(GAA):c.1143C>T (p.Thr381=) rs111832449
NM_000152.4(GAA):c.1147A>G (p.Ile383Val) rs794727837
NM_000152.4(GAA):c.1188C>G (p.Phe396Leu) rs756126944
NM_000152.4(GAA):c.1192C>T (p.Leu398=) rs369707231
NM_000152.4(GAA):c.1194+3G>C rs368539333
NM_000152.4(GAA):c.1195-4G>T rs886042626
NM_000152.4(GAA):c.11G>A (p.Arg4Lys) rs372147077
NM_000152.4(GAA):c.1211A>T (p.Asp404Val) rs886042961
NM_000152.4(GAA):c.1219T>C (p.Tyr407His) rs727503939
NM_000152.4(GAA):c.1240T>C (p.Phe414Leu) rs886042630
NM_000152.4(GAA):c.1265G>A (p.Arg422Gln) rs2229224
NM_000152.4(GAA):c.1273C>T (p.Pro425Ser) rs1283810246
NM_000152.4(GAA):c.1288G>A (p.Glu430Lys) rs375433002
NM_000152.4(GAA):c.1320G>T (p.Met440Ile) rs550837627
NM_000152.4(GAA):c.1324G>A (p.Val442Met) rs377559348
NM_000152.4(GAA):c.1347G>A (p.Ser449=) rs756938942
NM_000152.4(GAA):c.1375G>C (p.Asp459His) rs535644999
NM_000152.4(GAA):c.1387C>T (p.Arg463Trp) rs199748889
NM_000152.4(GAA):c.1402A>T (p.Ile468Phe) rs886043148
NM_000152.4(GAA):c.1410C>T (p.Asn470=) rs886043068
NM_000152.4(GAA):c.1416C>T (p.Thr472=) rs368492669
NM_000152.4(GAA):c.1418G>C (p.Gly473Ala) rs886043976
NM_000152.4(GAA):c.1425G>A (p.Pro475=) rs753140491
NM_000152.4(GAA):c.1434G>A (p.Gly478=) rs886043285
NM_000152.4(GAA):c.1438-7_1438-5delTGT rs764583466
NM_000152.4(GAA):c.1438-9G>A rs202211401
NM_000152.4(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.4(GAA):c.1482A>G (p.Thr494=) rs202064115
NM_000152.4(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.4(GAA):c.1556T>C (p.Met519Thr) rs786204720
NM_000152.4(GAA):c.1560C>T (p.Asn520=) rs116322271
NM_000152.4(GAA):c.1583G>C (p.Gly528Ala) rs794727016
NM_000152.4(GAA):c.1593C>T (p.Asp531=) rs138732016
NM_000152.4(GAA):c.1599C>T (p.Cys533=) rs142766716
NM_000152.4(GAA):c.1607A>G (p.Asn536Ser) rs368568190
NM_000152.4(GAA):c.1629C>T (p.Tyr543=) rs372193105
NM_000152.4(GAA):c.1637G>T (p.Gly546Val) rs886043918
NM_000152.4(GAA):c.1661C>T (p.Ala554Val) rs772260861
NM_000152.4(GAA):c.1692T>G (p.Phe564Leu) rs886043997
NM_000152.4(GAA):c.1712T>C (p.Leu571Pro) rs886042498
NM_000152.4(GAA):c.1722C>T (p.Leu574=) rs561357893
NM_000152.4(GAA):c.1725C>T (p.Tyr575=) rs112517802
NM_000152.4(GAA):c.1757C>T (p.Ala586Val) rs770021831
NM_000152.4(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000152.4(GAA):c.17C>T (p.Pro6Leu) rs771409180
NM_000152.4(GAA):c.1823G>A (p.Arg608Gln) rs377126280
NM_000152.4(GAA):c.1828G>A (p.Ala610Thr) rs144731405
NM_000152.4(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.4(GAA):c.1842G>A (p.Thr614=) rs373955374
NM_000152.4(GAA):c.1848C>T (p.Asp616=) rs377175810
NM_000152.4(GAA):c.1849G>A (p.Val617Met) rs767977395
NM_000152.4(GAA):c.1851G>A (p.Val617=) rs886042906
NM_000152.4(GAA):c.1860C>T (p.Ser620=) rs370369972
NM_000152.4(GAA):c.1884G>C (p.Val628=) rs780130036
NM_000152.4(GAA):c.1886C>T (p.Pro629Leu) rs746961289
NM_000152.4(GAA):c.1888+10_1888+11insC rs748036956
NM_000152.4(GAA):c.1888+5G>T rs528282884
NM_000152.4(GAA):c.1889-5C>T rs794727115
NM_000152.4(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.4(GAA):c.1930G>C (p.Ala644Pro) rs752735168
NM_000152.4(GAA):c.1947C>T (p.Phe649=) rs770248553
NM_000152.4(GAA):c.2040+7T>G rs1555601667
NM_000152.4(GAA):c.2041-4G>T rs775757700
NM_000152.4(GAA):c.2051C>T (p.Pro684Leu) rs147327209
NM_000152.4(GAA):c.2052G>A (p.Pro684=) rs546463058
NM_000152.4(GAA):c.2092G>A (p.Ala698Thr) rs367632754
NM_000152.4(GAA):c.2109C>T (p.Tyr703=) rs150728610
NM_000152.4(GAA):c.2122C>T (p.His708Tyr) rs149916476
NM_000152.4(GAA):c.212A>G (p.His71Arg) rs760205477
NM_000152.4(GAA):c.2132C>G (p.Thr711Arg) rs759292700
NM_000152.4(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.4(GAA):c.2155G>A (p.Ala719Thr) rs143324027
NM_000152.4(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000152.4(GAA):c.2157G>A (p.Ala719=) rs201523530
NM_000152.4(GAA):c.2161G>C (p.Glu721Gln) rs140376273
NM_000152.4(GAA):c.216C>T (p.Pro72=) rs753287841
NM_000152.4(GAA):c.2190-4G>A rs759974338
NM_000152.4(GAA):c.2222A>T (p.Asp741Val) rs886044665
NM_000152.4(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.4(GAA):c.2253C>T (p.Leu751=) rs140441758
NM_000152.4(GAA):c.2275G>A (p.Gly759Arg) rs138183791
NM_000152.4(GAA):c.2297A>G (p.Tyr766Cys) rs144016984
NM_000152.4(GAA):c.2323C>A (p.Leu775Met) rs147290429
NM_000152.4(GAA):c.2332-10C>G rs373606162
NM_000152.4(GAA):c.2332-12A>T rs200965268
NM_000152.4(GAA):c.2361A>C (p.Pro787=) rs1555602853
NM_000152.4(GAA):c.2365C>G (p.Pro789Ala) rs201485261
NM_000152.4(GAA):c.2380C>G (p.Arg794Gly) rs367779589
NM_000152.4(GAA):c.2383G>A (p.Glu795Lys) rs886043882
NM_000152.4(GAA):c.2391C>T (p.Ala797=) rs767494597
NM_000152.4(GAA):c.2395C>T (p.His799Tyr) rs143347747
NM_000152.4(GAA):c.2404G>A (p.Gly802Arg) rs148412962
NM_000152.4(GAA):c.2408A>G (p.Gln803Arg) rs142487534
NM_000152.4(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.4(GAA):c.2417C>T (p.Thr806Met) rs139850074
NM_000152.4(GAA):c.2418G>A (p.Thr806=) rs371528938
NM_000152.4(GAA):c.2423C>T (p.Pro808Leu) rs773498009
NM_000152.4(GAA):c.2427C>G (p.Ala809=) rs766325117
NM_000152.4(GAA):c.2474C>G (p.Pro825Arg) rs886042703
NM_000152.4(GAA):c.247G>A (p.Asp83Asn) rs771101156
NM_000152.4(GAA):c.2481+16G>A rs41292408
NM_000152.4(GAA):c.249C>T (p.Asp83=) rs377351519
NM_000152.4(GAA):c.250G>A (p.Val84Ile)
NM_000152.4(GAA):c.2510G>A (p.Arg837His) rs746095374
NM_000152.4(GAA):c.2523G>C (p.Met841Ile) rs1555603087
NM_000152.4(GAA):c.2540T>G (p.Leu847Arg) rs1555603096
NM_000152.4(GAA):c.25T>C (p.Ser9Pro) rs886042671
NM_000152.4(GAA):c.2647-6G>A rs201525743
NM_000152.4(GAA):c.2652G>A (p.Thr884=) rs143642048
NM_000152.4(GAA):c.2656G>A (p.Val886Met) rs372802420
NM_000152.4(GAA):c.266G>A (p.Arg89His) rs200586324
NM_000152.4(GAA):c.2712G>A (p.Val904=) rs886043848
NM_000152.4(GAA):c.271_272delGAinsAG (p.Asp91Ser) rs797044668
NM_000152.4(GAA):c.2725G>A (p.Val909Met) rs138407065
NM_000152.4(GAA):c.2736G>A (p.Ala912=) rs142472738
NM_000152.4(GAA):c.2739C>G (p.Pro913=) rs370765733
NM_000152.4(GAA):c.2799+4A>G rs778032599
NM_000152.4(GAA):c.2800-9_2800-8delCT rs770227589
NM_000152.4(GAA):c.297C>T (p.Thr99=) rs771846178
NM_000152.4(GAA):c.310G>A (p.Glu104Lys) rs201902338
NM_000152.4(GAA):c.317G>A (p.Arg106His) rs772534106
NM_000152.4(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000152.4(GAA):c.362A>G (p.Gln121Arg) rs150284874
NM_000152.4(GAA):c.412C>G (p.Leu138Val) rs761221259
NM_000152.4(GAA):c.444C>T (p.Tyr148=) rs886043112
NM_000152.4(GAA):c.460C>T (p.Arg154Cys) rs539841659
NM_000152.4(GAA):c.468C>T (p.Thr156=) rs145849611
NM_000152.4(GAA):c.510C>T (p.Asp170=) rs564758226
NM_000152.4(GAA):c.534C>G (p.Arg178=) rs765613378
NM_000152.4(GAA):c.545C>G (p.Thr182Arg) rs200524747
NM_000152.4(GAA):c.546+3G>A rs371405931
NM_000152.4(GAA):c.546+6C>T rs375727055
NM_000152.4(GAA):c.546+8G>A rs200107080
NM_000152.4(GAA):c.576G>C (p.Glu192Asp) rs760655446
NM_000152.4(GAA):c.5G>C (p.Gly2Ala) rs1245992455
NM_000152.4(GAA):c.600C>T (p.Val200=) rs150895924
NM_000152.4(GAA):c.614C>T (p.Pro205Leu) rs775065551
NM_000152.4(GAA):c.615G>A (p.Pro205=) rs141427808
NM_000152.4(GAA):c.663C>T (p.Ile221=) rs142878958
NM_000152.4(GAA):c.667C>T (p.Arg223Cys) rs886043961
NM_000152.4(GAA):c.685C>T (p.Arg229Cys) rs375295347
NM_000152.4(GAA):c.692+9T>C rs367661167
NM_000152.4(GAA):c.693-4G>T rs200088236
NM_000152.4(GAA):c.702G>A (p.Thr234=) rs755337511
NM_000152.4(GAA):c.705G>A (p.Thr235=) rs2304846
NM_000152.4(GAA):c.70G>A (p.Ala24Thr) rs139716763
NM_000152.4(GAA):c.711G>A (p.Ala237=) rs368328598
NM_000152.4(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.4(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.4(GAA):c.74C>T (p.Ala25Val) rs768867363
NM_000152.4(GAA):c.794G>A (p.Ser265Asn) rs772002851
NM_000152.4(GAA):c.834G>A (p.Leu278=) rs776314424
NM_000152.4(GAA):c.83G>T (p.Gly28Val) rs886042598
NM_000152.4(GAA):c.851C>G (p.Ala284Gly) rs147569830
NM_000152.4(GAA):c.858+10C>T rs758283022
NM_000152.4(GAA):c.858+4C>G rs886042706
NM_000152.4(GAA):c.858+7_858+8insAGTGGGC rs3071247
NM_000152.4(GAA):c.861C>T (p.Pro287=) rs778580823
NM_000152.4(GAA):c.866C>T (p.Ala289Val) rs145903608
NM_000152.4(GAA):c.868A>G (p.Asn290Asp) rs552929702
NM_000152.4(GAA):c.906G>A (p.Glu302=) rs1488323868
NM_000152.4(GAA):c.910G>A (p.Gly304Ser) rs140301384
NM_000152.4(GAA):c.913G>A (p.Gly305Arg) rs200154987
NM_000152.4(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000152.4(GAA):c.927G>A (p.Gly309=) rs886043779
NM_000152.4(GAA):c.952A>T (p.Met318Leu) rs886044506
NM_000152.4(GAA):c.993G>A (p.Arg331=) rs749831587
NM_000152.5(GAA):c.1047C>T (p.Ser349=)
NM_000152.5(GAA):c.116C>T (p.Pro39Leu)
NM_000152.5(GAA):c.1257_1289del (p.Asp419_Gln429del)
NM_000152.5(GAA):c.1381G>A (p.Gly461Ser)
NM_000152.5(GAA):c.1416C>G (p.Thr472=)
NM_000152.5(GAA):c.1418G>A (p.Gly473Asp)
NM_000152.5(GAA):c.1438-15_1438-1del
NM_000152.5(GAA):c.1572C>A (p.Asn524Lys)
NM_000152.5(GAA):c.1642G>T (p.Val548Phe)
NM_000152.5(GAA):c.1835A>C (p.His612Pro)
NM_000152.5(GAA):c.18G>A (p.Pro6=)
NM_000152.5(GAA):c.18G>C (p.Pro6=)
NM_000152.5(GAA):c.1964A>G (p.Glu655Gly)
NM_000152.5(GAA):c.2052G>C (p.Pro684=)
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser)
NM_000152.5(GAA):c.2256C>T (p.Ile752=)
NM_000152.5(GAA):c.370C>G (p.Gln124Glu)
NM_000152.5(GAA):c.67A>G (p.Thr23Ala)
NM_000152.5(GAA):c.76C>T (p.Leu26Phe)
NM_000152.5(GAA):c.900G>A (p.Ala300=)
NM_000152.5(GAA):c.924C>A (p.His308Gln)

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