List of variants reported as uncertain significance for Fukuyama congenital muscular dystrophy

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 98

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HGVS	dbSNP
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.1112A>G (p.Tyr371Cys)	rs119464998
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg)	rs148975262
NM_001079802.2(FKTN):c.1188G>A (p.Lys396=)	rs886063320
NM_001079802.2(FKTN):c.1201del (p.Trp401fs)	rs1554766841
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del)	rs1554766855
NM_001079802.2(FKTN):c.1249G>T (p.Glu417Ter)	rs765934383
NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs)	rs1554766898
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala)	rs141918432
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile)	rs374912618
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)	rs146951171
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.277A>G (p.Thr93Ala)	rs886063319
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr)	rs119463995
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)	rs34006675
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val)	rs142783718
NM_001079802.2(FKTN):c.397A>G (p.Met133Val)	rs569778463
NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg)	rs200686690
NM_001079802.2(FKTN):c.557A>G (p.His186Arg)	rs1448279636
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile)
NM_001079802.2(FKTN):c.681G>A (p.Leu227=)	rs142604625
NM_001079802.2(FKTN):c.705A>G (p.Pro235=)
NM_001079802.2(FKTN):c.766C>A (p.Arg256=)	rs377417974
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp)	rs558187116
NM_001079802.2(FKTN):c.910+7T>G
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=)	rs752921570
NM_006731.2(FKTN):c.911-13A>G	rs766103012

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