ClinVar Miner

List of variants in gene FGD4 reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 218
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HGVS dbSNP
NC_000012.12:g.(?_32598477)_(32598606_?)del
NC_000012.12:g.(?_32633539)_(32640543_?)dup
NM_001304481.1(FGD4):c.112A>T (p.Ile38Leu) rs886049253
NM_001304481.1(FGD4):c.1488_1490AGA[3] (p.Glu499del) rs1264651352
NM_001304481.1(FGD4):c.1881_1882AG[1] (p.Glu628fs) rs1565921326
NM_001304481.1(FGD4):c.2132_2136AAAAG[2] (p.Lys715fs) rs751035912
NM_001304481.1(FGD4):c.220C>A (p.Pro74Thr) rs199744649
NM_001304481.1(FGD4):c.8del (p.Gly3fs) rs1357153004
NM_139241.3(FGD4):c.*1006C>T rs886049260
NM_139241.3(FGD4):c.*1160G>A rs540745195
NM_139241.3(FGD4):c.*1259A>G
NM_139241.3(FGD4):c.*1274G>A rs570269532
NM_139241.3(FGD4):c.*131A>G
NM_139241.3(FGD4):c.*1351A>T
NM_139241.3(FGD4):c.*1354A>G rs886049261
NM_139241.3(FGD4):c.*1356T>G rs886049262
NM_139241.3(FGD4):c.*1365T>C
NM_139241.3(FGD4):c.*1375C>T
NM_139241.3(FGD4):c.*1485T>C rs55970127
NM_139241.3(FGD4):c.*1530T>C
NM_139241.3(FGD4):c.*1704C>G rs886049263
NM_139241.3(FGD4):c.*1781G>A rs886049264
NM_139241.3(FGD4):c.*1866T>G rs886049265
NM_139241.3(FGD4):c.*1908G>C rs886049266
NM_139241.3(FGD4):c.*2026A>G rs765502938
NM_139241.3(FGD4):c.*2096T>A
NM_139241.3(FGD4):c.*2192G>A
NM_139241.3(FGD4):c.*2264G>A
NM_139241.3(FGD4):c.*2309G>A
NM_139241.3(FGD4):c.*2374G>T rs753715337
NM_139241.3(FGD4):c.*2462C>A rs575272682
NM_139241.3(FGD4):c.*2487C>A
NM_139241.3(FGD4):c.*2648G>A
NM_139241.3(FGD4):c.*2813C>T rs148195158
NM_139241.3(FGD4):c.*2859G>A
NM_139241.3(FGD4):c.*3022A>G
NM_139241.3(FGD4):c.*3037C>A rs886049267
NM_139241.3(FGD4):c.*3044T>C rs747748956
NM_139241.3(FGD4):c.*3113_*3114TA[4] rs57627640
NM_139241.3(FGD4):c.*3113_*3114TA[6] rs57627640
NM_139241.3(FGD4):c.*3150A>G rs542871416
NM_139241.3(FGD4):c.*3195T>G
NM_139241.3(FGD4):c.*3438C>T rs886049269
NM_139241.3(FGD4):c.*3482G>T rs886049270
NM_139241.3(FGD4):c.*3543G>C
NM_139241.3(FGD4):c.*368T>C
NM_139241.3(FGD4):c.*3814A>G rs886049271
NM_139241.3(FGD4):c.*3894_*3895del rs780175220
NM_139241.3(FGD4):c.*3905A>G rs886049273
NM_139241.3(FGD4):c.*3937A>G
NM_139241.3(FGD4):c.*3940G>A
NM_139241.3(FGD4):c.*3994A>G
NM_139241.3(FGD4):c.*4118G>A
NM_139241.3(FGD4):c.*411A>G rs886049256
NM_139241.3(FGD4):c.*4268A>G rs542163387
NM_139241.3(FGD4):c.*4317T>G
NM_139241.3(FGD4):c.*4347T>C
NM_139241.3(FGD4):c.*4446A>G
NM_139241.3(FGD4):c.*4756A>G rs763037960
NM_139241.3(FGD4):c.*4772dup rs567814235
NM_139241.3(FGD4):c.*4832G>A
NM_139241.3(FGD4):c.*4862C>A rs886049275
NM_139241.3(FGD4):c.*4925A>T rs886049276
NM_139241.3(FGD4):c.*4977G>C rs575914495
NM_139241.3(FGD4):c.*497T>C rs886049257
NM_139241.3(FGD4):c.*5020G>C rs886049277
NM_139241.3(FGD4):c.*5072A>G rs886049278
NM_139241.3(FGD4):c.*5152C>T rs886049279
NM_139241.3(FGD4):c.*5153G>A
NM_139241.3(FGD4):c.*5177G>A rs777896036
NM_139241.3(FGD4):c.*5223G>A rs886049280
NM_139241.3(FGD4):c.*5243C>T
NM_139241.3(FGD4):c.*5265A>G
NM_139241.3(FGD4):c.*5309C>T rs556209722
NM_139241.3(FGD4):c.*5321G>A
NM_139241.3(FGD4):c.*5329G>C rs886049281
NM_139241.3(FGD4):c.*5389A>G
NM_139241.3(FGD4):c.*5484T>C rs577630567
NM_139241.3(FGD4):c.*69T>C
NM_139241.3(FGD4):c.*712C>T
NM_139241.3(FGD4):c.*734G>A rs886049258
NM_139241.3(FGD4):c.*762G>T rs886049259
NM_139241.3(FGD4):c.*795G>A rs112398567
NM_139241.3(FGD4):c.-246+9C>T rs531501340
NM_139241.3(FGD4):c.-289A>G rs56168193
NM_139241.3(FGD4):c.-370G>A rs184708096
NM_139241.3(FGD4):c.-421A>C rs192626243
NM_139241.3(FGD4):c.-433C>G
NM_139241.3(FGD4):c.-447T>C rs886049252
NM_139241.3(FGD4):c.-448C>G
NM_139241.3(FGD4):c.-455C>A
NM_139241.3(FGD4):c.1033A>G (p.Met345Val) rs1404084092
NM_139241.3(FGD4):c.1043C>A (p.Pro348His)
NM_139241.3(FGD4):c.1061G>A (p.Arg354Gln) rs1415031307
NM_139241.3(FGD4):c.1080G>T (p.Lys360Asn)
NM_139241.3(FGD4):c.1091G>C (p.Arg364Thr) rs755934741
NM_139241.3(FGD4):c.1103C>T (p.Pro368Leu)
NM_139241.3(FGD4):c.1132+13T>C rs762177862
NM_139241.3(FGD4):c.1132+1G>A rs1592388367
NM_139241.3(FGD4):c.1135T>G (p.Ser379Ala) rs1396328756
NM_139241.3(FGD4):c.1175G>A (p.Ser392Asn) rs781528826
NM_139241.3(FGD4):c.1191+6T>C
NM_139241.3(FGD4):c.1192-9A>G rs1555217855
NM_139241.3(FGD4):c.1192G>A (p.Glu398Lys) rs756885149
NM_139241.3(FGD4):c.1194G>T (p.Glu398Asp)
NM_139241.3(FGD4):c.1198C>G (p.Leu400Val) rs750265200
NM_139241.3(FGD4):c.1246A>G (p.Ile416Val) rs1060501903
NM_139241.3(FGD4):c.1256C>T (p.Pro419Leu)
NM_139241.3(FGD4):c.1258T>A (p.Ser420Thr) rs759385629
NM_139241.3(FGD4):c.1324C>T (p.Arg442Cys)
NM_139241.3(FGD4):c.1325G>A (p.Arg442His) rs281865063
NM_139241.3(FGD4):c.1327T>C (p.Tyr443His) rs1555217941
NM_139241.3(FGD4):c.1338+3G>A rs542398408
NM_139241.3(FGD4):c.1348A>G (p.Met450Val) rs201186597
NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr) rs138160928
NM_139241.3(FGD4):c.1429A>C (p.Lys477Gln)
NM_139241.3(FGD4):c.1511+4A>G rs760192025
NM_139241.3(FGD4):c.1525_1527del (p.Lys509del) rs1565920164
NM_139241.3(FGD4):c.1562A>G (p.Asp521Gly) rs141237776
NM_139241.3(FGD4):c.1564G>A (p.Ala522Thr)
NM_139241.3(FGD4):c.1569T>C (p.Phe523=)
NM_139241.3(FGD4):c.1619T>G (p.Ile540Ser)
NM_139241.3(FGD4):c.1624T>A (p.Ser542Thr) rs150746174
NM_139241.3(FGD4):c.1630G>A (p.Val544Ile)
NM_139241.3(FGD4):c.1692G>A (p.Met564Ile) rs1267580970
NM_139241.3(FGD4):c.1698G>A (p.Met566Ile) rs281865064
NM_139241.3(FGD4):c.1706A>G (p.Lys569Arg)
NM_139241.3(FGD4):c.1711C>G (p.Pro571Ala) rs144693221
NM_139241.3(FGD4):c.1711C>T (p.Pro571Ser) rs144693221
NM_139241.3(FGD4):c.1712C>A (p.Pro571His) rs145071617
NM_139241.3(FGD4):c.1761+12T>G
NM_139241.3(FGD4):c.1762-2A>G rs281865065
NM_139241.3(FGD4):c.1772G>A (p.Trp591Ter) rs1592488602
NM_139241.3(FGD4):c.1814G>A (p.Gly605Asp) rs886049255
NM_139241.3(FGD4):c.182C>T (p.Thr61Ile)
NM_139241.3(FGD4):c.1832G>T (p.Cys611Phe)
NM_139241.3(FGD4):c.1838A>C (p.Asp613Ala)
NM_139241.3(FGD4):c.184C>T (p.Pro62Ser) rs1555209302
NM_139241.3(FGD4):c.185C>T (p.Pro62Leu)
NM_139241.3(FGD4):c.1877A>T (p.Glu626Val) rs1484964809
NM_139241.3(FGD4):c.1878A>C (p.Glu626Asp)
NM_139241.3(FGD4):c.1886_1889del (p.Arg629fs) rs1592489096
NM_139241.3(FGD4):c.1890_1894del (p.Lys630fs) rs1592489165
NM_139241.3(FGD4):c.1929C>A (p.Asn643Lys) rs1555224749
NM_139241.3(FGD4):c.192A>G (p.Gln64=) rs771558628
NM_139241.3(FGD4):c.1934T>C (p.Val645Ala) rs1296247975
NM_139241.3(FGD4):c.196CTC[1] (p.Leu67del)
NM_139241.3(FGD4):c.1991G>C (p.Cys664Ser) rs749404822
NM_139241.3(FGD4):c.199C>G (p.Leu67Val)
NM_139241.3(FGD4):c.2014C>G (p.Leu672Val)
NM_139241.3(FGD4):c.2041del (p.Gln681fs) rs1060501904
NM_139241.3(FGD4):c.2088G>A (p.Val696=)
NM_139241.3(FGD4):c.2095A>G (p.Met699Val) rs140220443
NM_139241.3(FGD4):c.20C>G (p.Ala7Gly)
NM_139241.3(FGD4):c.2101A>G (p.Arg701Gly) rs756201273
NM_139241.3(FGD4):c.2143A>G (p.Lys715Glu)
NM_139241.3(FGD4):c.2149G>A (p.Val717Met) rs61753359
NM_139241.3(FGD4):c.2149G>T (p.Val717Leu)
NM_139241.3(FGD4):c.2179C>G (p.Leu727Val) rs1592515601
NM_139241.3(FGD4):c.2180T>A (p.Leu727Gln) rs1592515619
NM_139241.3(FGD4):c.2186A>G (p.Gln729Arg) rs777302433
NM_139241.3(FGD4):c.2197A>G (p.Lys733Glu) rs746459196
NM_139241.3(FGD4):c.2199A>C (p.Lys733Asn) rs770729087
NM_139241.3(FGD4):c.227G>A (p.Gly76Glu)
NM_139241.3(FGD4):c.255A>T (p.Ala85=) rs139357821
NM_139241.3(FGD4):c.263G>A (p.Cys88Tyr)
NM_139241.3(FGD4):c.272A>G (p.Asn91Ser)
NM_139241.3(FGD4):c.297G>T (p.Gln99His)
NM_139241.3(FGD4):c.308_322del (p.Glu103_Ala107del) rs1314855895
NM_139241.3(FGD4):c.310G>A (p.Glu104Lys) rs752621629
NM_139241.3(FGD4):c.316A>G (p.Lys106Glu)
NM_139241.3(FGD4):c.322G>A (p.Ala108Thr)
NM_139241.3(FGD4):c.329T>C (p.Leu110Pro) rs142609007
NM_139241.3(FGD4):c.374C>G (p.Thr125Arg) rs200732890
NM_139241.3(FGD4):c.374C>T (p.Thr125Met) rs200732890
NM_139241.3(FGD4):c.379A>G (p.Ile127Val)
NM_139241.3(FGD4):c.381A>G (p.Ile127Met) rs774466701
NM_139241.3(FGD4):c.397G>A (p.Asp133Asn)
NM_139241.3(FGD4):c.398A>G (p.Asp133Gly) rs759415605
NM_139241.3(FGD4):c.427A>G (p.Thr143Ala)
NM_139241.3(FGD4):c.437G>T (p.Ser146Ile) rs1208033042
NM_139241.3(FGD4):c.443A>T (p.Asp148Val) rs1565869688
NM_139241.3(FGD4):c.460A>G (p.Ser154Gly)
NM_139241.3(FGD4):c.479G>A (p.Gly160Asp) rs201826412
NM_139241.3(FGD4):c.50C>G (p.Pro17Arg) rs371407163
NM_139241.3(FGD4):c.514dup (p.Ala172fs) rs1565869918
NM_139241.3(FGD4):c.539A>G (p.Glu180Gly) rs1452437045
NM_139241.3(FGD4):c.542G>A (p.Arg181Lys) rs750143546
NM_139241.3(FGD4):c.544G>A (p.Glu182Lys) rs1592295272
NM_139241.3(FGD4):c.547A>G (p.Asn183Asp)
NM_139241.3(FGD4):c.569T>A (p.Leu190Gln) rs144980336
NM_139241.3(FGD4):c.569T>C (p.Leu190Pro) rs144980336
NM_139241.3(FGD4):c.573G>T (p.Glu191Asp)
NM_139241.3(FGD4):c.58G>A (p.Val20Ile) rs755068251
NM_139241.3(FGD4):c.593A>G (p.Glu198Gly) rs1304257221
NM_139241.3(FGD4):c.597G>C (p.Met199Ile) rs1592295526
NM_139241.3(FGD4):c.61T>C (p.Ser21Pro)
NM_139241.3(FGD4):c.635A>G (p.Asn212Ser) rs147969494
NM_139241.3(FGD4):c.667A>C (p.Asn223His) rs761788290
NM_139241.3(FGD4):c.671G>A (p.Arg224Gln) rs903824731
NM_139241.3(FGD4):c.690+6A>T
NM_139241.3(FGD4):c.691-5T>A
NM_139241.3(FGD4):c.731C>T (p.Ser244Leu)
NM_139241.3(FGD4):c.740C>T (p.Ala247Val) rs1295394925
NM_139241.3(FGD4):c.76C>T (p.Arg26Cys) rs758603361
NM_139241.3(FGD4):c.837-1G>A rs1592368399
NM_139241.3(FGD4):c.837-2A>G rs1592368395
NM_139241.3(FGD4):c.852A>G (p.Arg284=) rs773609461
NM_139241.3(FGD4):c.88_90dup (p.Gly30dup)
NM_139241.3(FGD4):c.893T>C (p.Met298Thr) rs63749871
NM_139241.3(FGD4):c.893T>G (p.Met298Arg) rs63749871
NM_139241.3(FGD4):c.894G>T (p.Met298Ile)
NM_139241.3(FGD4):c.955C>T (p.Arg319Cys) rs1131691854
NM_139241.3(FGD4):c.956G>A (p.Arg319His) rs533939591
NM_139241.3(FGD4):c.95C>T (p.Ser32Leu) rs143251785
NM_139241.3(FGD4):c.993+4A>T rs767855809
NM_139241.3(FGD4):c.993+5T>C
NM_139241.3(FGD4):c.994-4A>G rs886049254

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