ClinVar Miner

List of variants in gene FKTN reported as uncertain significance for congenital vitreoretinal dysplasia

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 185
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HGVS dbSNP
NC_000009.11:g.(?_108337304)_(108358948_?)dup
NC_000009.12:g.(?_105575023)_(105635274_?)dup
NM_001079802.2(FKTN):c.*100G>A
NM_001079802.2(FKTN):c.*1010G>A
NM_001079802.2(FKTN):c.*1017A>G rs886063324
NM_001079802.2(FKTN):c.*1175C>T
NM_001079802.2(FKTN):c.*1276C>T rs886063325
NM_001079802.2(FKTN):c.*1511A>G rs886063326
NM_001079802.2(FKTN):c.*166A>G
NM_001079802.2(FKTN):c.*1681G>A rs886063327
NM_001079802.2(FKTN):c.*1845G>T rs886063328
NM_001079802.2(FKTN):c.*2254A>G
NM_001079802.2(FKTN):c.*2265T>C rs76003803
NM_001079802.2(FKTN):c.*2433G>A rs886063329
NM_001079802.2(FKTN):c.*2464G>A
NM_001079802.2(FKTN):c.*2505A>G rs367988702
NM_001079802.2(FKTN):c.*2508G>T rs886063330
NM_001079802.2(FKTN):c.*2516G>T rs886063331
NM_001079802.2(FKTN):c.*2592T>C
NM_001079802.2(FKTN):c.*2640G>C
NM_001079802.2(FKTN):c.*2674A>G
NM_001079802.2(FKTN):c.*2902C>T
NM_001079802.2(FKTN):c.*2904G>A rs138806979
NM_001079802.2(FKTN):c.*2984C>T rs886063332
NM_001079802.2(FKTN):c.*3046T>C rs886063333
NM_001079802.2(FKTN):c.*3156A>T rs886063334
NM_001079802.2(FKTN):c.*324G>C rs536822992
NM_001079802.2(FKTN):c.*3312T>G
NM_001079802.2(FKTN):c.*3352C>A
NM_001079802.2(FKTN):c.*3377A>G rs148172557
NM_001079802.2(FKTN):c.*3432dup rs879020291
NM_001079802.2(FKTN):c.*3460G>A
NM_001079802.2(FKTN):c.*3516T>C
NM_001079802.2(FKTN):c.*3547C>T rs886063336
NM_001079802.2(FKTN):c.*3861T>C rs185745657
NM_001079802.2(FKTN):c.*3918A>G rs17316607
NM_001079802.2(FKTN):c.*3985C>T
NM_001079802.2(FKTN):c.*4238del rs776272545
NM_001079802.2(FKTN):c.*42del rs749100291
NM_001079802.2(FKTN):c.*436C>T rs886063322
NM_001079802.2(FKTN):c.*4491T>C
NM_001079802.2(FKTN):c.*4501A>G
NM_001079802.2(FKTN):c.*4599G>A rs886063338
NM_001079802.2(FKTN):c.*462T>C
NM_001079802.2(FKTN):c.*4646A>G
NM_001079802.2(FKTN):c.*4705G>A
NM_001079802.2(FKTN):c.*4826A>G
NM_001079802.2(FKTN):c.*4859A>G rs1554768242
NM_001079802.2(FKTN):c.*4859A>T rs1554768242
NM_001079802.2(FKTN):c.*4908A>G
NM_001079802.2(FKTN):c.*4940C>G rs886063339
NM_001079802.2(FKTN):c.*5003T>G rs886063340
NM_001079802.2(FKTN):c.*5161C>T rs886063341
NM_001079802.2(FKTN):c.*5303dup rs879263714
NM_001079802.2(FKTN):c.*5356C>T rs553575648
NM_001079802.2(FKTN):c.*5578G>A rs41277801
NM_001079802.2(FKTN):c.*5817A>C rs886063343
NM_001079802.2(FKTN):c.*712C>T
NM_001079802.2(FKTN):c.*71C>T
NM_001079802.2(FKTN):c.*760A>C
NM_001079802.2(FKTN):c.*79C>T
NM_001079802.2(FKTN):c.*954T>A rs886063323
NM_001079802.2(FKTN):c.-114G>A
NM_001079802.2(FKTN):c.-136A>G rs886063318
NM_001079802.2(FKTN):c.-39G>A
NM_001079802.2(FKTN):c.-77A>G rs188804693
NM_001079802.2(FKTN):c.-90del rs727502845
NM_001079802.2(FKTN):c.-96T>C rs151250905
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.1046T>C (p.Val349Ala) rs539089647
NM_001079802.2(FKTN):c.1056C>G (p.Ser352Arg) rs149085844
NM_001079802.2(FKTN):c.1086T>A (p.Asp362Glu)
NM_001079802.2(FKTN):c.1088T>G (p.Val363Gly)
NM_001079802.2(FKTN):c.10A>C (p.Ile4Leu) rs757900916
NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu)
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_001079802.2(FKTN):c.1129A>G (p.Met377Val) rs1200757732
NM_001079802.2(FKTN):c.1135A>G (p.Asn379Asp)
NM_001079802.2(FKTN):c.1157C>T (p.Thr386Ile)
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262
NM_001079802.2(FKTN):c.1174T>C (p.Tyr392His)
NM_001079802.2(FKTN):c.1178T>C (p.Leu393Pro) rs374962879
NM_001079802.2(FKTN):c.1188G>A (p.Lys396=) rs886063320
NM_001079802.2(FKTN):c.1196T>C (p.Leu399Pro)
NM_001079802.2(FKTN):c.1201del (p.Trp401fs) rs1554766841
NM_001079802.2(FKTN):c.1205C>T (p.Thr402Ile) rs371464705
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) rs146272618
NM_001079802.2(FKTN):c.1249G>T (p.Glu417Ter) rs765934383
NM_001079802.2(FKTN):c.124A>G (p.Lys42Glu) rs752663857
NM_001079802.2(FKTN):c.1250A>T (p.Glu417Val) rs543684877
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)
NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs) rs1554766898
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser) rs752358445
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_001079802.2(FKTN):c.1298C>T (p.Thr433Met) rs201590151
NM_001079802.2(FKTN):c.12C>G (p.Ile4Met)
NM_001079802.2(FKTN):c.1312C>T (p.Arg438Cys) rs150852885
NM_001079802.2(FKTN):c.1315_1316TC[3] (p.Pro440fs) rs886042778
NM_001079802.2(FKTN):c.1319C>T (p.Pro440Leu) rs1564357396
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys)
NM_001079802.2(FKTN):c.1369G>A (p.Val457Ile)
NM_001079802.2(FKTN):c.1371_1381dup (p.Tyr461fs) rs727502847
NM_001079802.2(FKTN):c.1379T>C (p.Leu460Ser)
NM_001079802.2(FKTN):c.13A>G (p.Asn5Asp) rs765929865
NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln)
NM_001079802.2(FKTN):c.14A>G (p.Asn5Ser) rs751473818
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171
NM_001079802.2(FKTN):c.170C>T (p.Ala57Val) rs1554751104
NM_001079802.2(FKTN):c.175_180del (p.Lys59_Lys60del) rs1554751112
NM_001079802.2(FKTN):c.189_191del (p.Met63_Leu64delinsIle) rs1554751136
NM_001079802.2(FKTN):c.220C>A (p.Leu74Ile) rs1060501407
NM_001079802.2(FKTN):c.22G>A (p.Val8Met) rs368981218
NM_001079802.2(FKTN):c.22G>T (p.Val8Leu) rs368981218
NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala) rs886063319
NM_001079802.2(FKTN):c.292A>G (p.Thr98Ala)
NM_001079802.2(FKTN):c.293C>G (p.Thr98Ser) rs376452959
NM_001079802.2(FKTN):c.293C>T (p.Thr98Ile) rs376452959
NM_001079802.2(FKTN):c.29T>C (p.Leu10Ser)
NM_001079802.2(FKTN):c.300A>G (p.Gln100=)
NM_001079802.2(FKTN):c.301T>C (p.Cys101Arg) rs886044095
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_001079802.2(FKTN):c.34C>G (p.Leu12Val) rs939985733
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675
NM_001079802.2(FKTN):c.374G>A (p.Gly125Asp)
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_001079802.2(FKTN):c.382C>T (p.Arg128Trp) rs767026996
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) rs146049441
NM_001079802.2(FKTN):c.397A>G (p.Met133Val) rs569778463
NM_001079802.2(FKTN):c.400G>A (p.Gly134Arg) rs1554752862
NM_001079802.2(FKTN):c.400_408del (p.Gly134_Gln136del)
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met) rs149033995
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939
NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg) rs200686690
NM_001079802.2(FKTN):c.482A>G (p.His161Arg) rs727502848
NM_001079802.2(FKTN):c.489C>G (p.Ile163Met) rs980208971
NM_001079802.2(FKTN):c.508G>A (p.Ala170Thr) rs778818366
NM_001079802.2(FKTN):c.511A>T (p.Ile171Phe)
NM_001079802.2(FKTN):c.545A>G (p.Asn182Ser)
NM_001079802.2(FKTN):c.556C>T (p.His186Tyr)
NM_001079802.2(FKTN):c.557A>G (p.His186Arg) rs1448279636
NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) rs1187674499
NM_001079802.2(FKTN):c.569G>A (p.Arg190Lys)
NM_001079802.2(FKTN):c.584T>C (p.Ile195Thr)
NM_001079802.2(FKTN):c.586G>T (p.Asp196Tyr) rs756748012
NM_001079802.2(FKTN):c.58T>G (p.Phe20Val) rs1554731003
NM_001079802.2(FKTN):c.623G>A (p.Gly208Asp) rs778048703
NM_001079802.2(FKTN):c.643G>C (p.Asp215His) rs745975808
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile)
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195
NM_001079802.2(FKTN):c.705A>G (p.Pro235=)
NM_001079802.2(FKTN):c.711C>G (p.His237Gln)
NM_001079802.2(FKTN):c.719_721AAG[1] (p.Glu241del) rs1437925297
NM_001079802.2(FKTN):c.727C>G (p.Pro243Ala)
NM_001079802.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_001079802.2(FKTN):c.774C>G (p.Phe258Leu)
NM_001079802.2(FKTN):c.780G>A (p.Gln260=) rs1459814015
NM_001079802.2(FKTN):c.787C>G (p.Leu263Val)
NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly) rs1037406947
NM_001079802.2(FKTN):c.802G>T (p.Val268Leu) rs878854165
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116
NM_001079802.2(FKTN):c.822G>T (p.Arg274=) rs997235832
NM_001079802.2(FKTN):c.83A>G (p.Tyr28Cys) rs374203636
NM_001079802.2(FKTN):c.854C>T (p.Ala285Val) rs137951613
NM_001079802.2(FKTN):c.877G>C (p.Val293Leu) rs146900302
NM_001079802.2(FKTN):c.885C>G (p.Phe295Leu) rs1564319328
NM_001079802.2(FKTN):c.905G>A (p.Cys302Tyr) rs1554757939
NM_001079802.2(FKTN):c.910+7T>G
NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly) rs267606814
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304
NM_001079802.2(FKTN):c.92A>G (p.Tyr31Cys) rs533603648
NM_001079802.2(FKTN):c.938C>T (p.Pro313Leu)
NM_001079802.2(FKTN):c.941A>G (p.Tyr314Cys) rs1451453111
NM_001079802.2(FKTN):c.952G>A (p.Val318Ile) rs141120187
NM_006731.2(FKTN):c.-88-6T>C rs115730708
NM_006731.2(FKTN):c.-89+1G>C rs574535599
NM_006731.2(FKTN):c.-89+1G>T rs574535599
NM_006731.2(FKTN):c.166-4A>G rs193922689
NM_006731.2(FKTN):c.207T>C (p.Asn69=)
NM_006731.2(FKTN):c.369+4A>G
NM_006731.2(FKTN):c.369+6T>G rs1554751423
NM_006731.2(FKTN):c.911-13A>G rs766103012

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