ClinVar Miner

List of variants in gene MYO7A reported as pathogenic

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Total variants: 138
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HGVS dbSNP
MYO7A, 1-BP INS, EX28
MYO7A, 9-BP DEL, EX22
MYO7A, IVS27AS, G-C, -1
NM_000260.3(MYO7A):c.1184G>A (p.Arg395His) rs387906700
NM_000260.3(MYO7A):c.1200+1G>A rs397516283
NM_000260.3(MYO7A):c.133-2A>G rs782064437
NM_000260.3(MYO7A):c.133G>T (p.Glu45Ter) rs368877140
NM_000260.3(MYO7A):c.1344-2A>G rs111033415
NM_000260.3(MYO7A):c.1353_1360delGCTCTGCA (p.Gln451Hisfs) rs1555069242
NM_000260.3(MYO7A):c.1373A>T (p.Asn458Ile) rs121965084
NM_000260.3(MYO7A):c.141G>A (p.Trp47Ter) rs397516285
NM_000260.3(MYO7A):c.1555-8C>G rs1057517774
NM_000260.3(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206
NM_000260.3(MYO7A):c.1556delG (p.Gly519Alafs) rs606231379
NM_000260.3(MYO7A):c.1563delC (p.Asp521Glufs) rs1064794012
NM_000260.3(MYO7A):c.1623dup (p.Lys542Glnfs) rs782077721
NM_000260.3(MYO7A):c.1797G>A (p.Met599Ile) rs121965082
NM_000260.3(MYO7A):c.1845delG (p.Lys615Asnfs) rs886037762
NM_000260.3(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.3(MYO7A):c.1884C>A (p.Cys628Ter) rs121965083
NM_000260.3(MYO7A):c.19-2A>G rs1555051384
NM_000260.3(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180
NM_000260.3(MYO7A):c.1952T>C (p.Leu651Pro) rs876657416
NM_000260.3(MYO7A):c.1963C>T (p.Gln655Ter) rs397516291
NM_000260.3(MYO7A):c.1969C>T rs878853236
NM_000260.3(MYO7A):c.1976C>A (p.Ser659Ter) rs878853378
NM_000260.3(MYO7A):c.1996C>T (p.Arg666Ter) rs121965085
NM_000260.3(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.3(MYO7A):c.2011G>A (p.Gly671Ser) rs387906699
NM_000260.3(MYO7A):c.2094+1G>A rs111033404
NM_000260.3(MYO7A):c.2172delC (p.Lys725Argfs) rs397516294
NM_000260.3(MYO7A):c.2187+1G>A rs111033290
NM_000260.3(MYO7A):c.223delG (p.Asp75ThrfsTer31) rs876657415
NM_000260.3(MYO7A):c.2283-1G>T (p.Ser762CysfsTer61) rs397516295
NM_000260.3(MYO7A):c.2307delC (p.Asn769Lysfs) rs1060499800
NM_000260.3(MYO7A):c.2311G>T (p.Ala771Ser) rs782384464
NM_000260.3(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914
NM_000260.3(MYO7A):c.2461C>T (p.Gln821Ter) rs1279918132
NM_000260.3(MYO7A):c.247C>A (p.Arg83Ser)
NM_000260.3(MYO7A):c.285+1G>C rs782661097
NM_000260.3(MYO7A):c.285+2T>C rs782292032
NM_000260.3(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233
NM_000260.3(MYO7A):c.3327delC (p.His1109Glnfs) rs111033433
NM_000260.3(MYO7A):c.3364C>A (p.Leu1122Ile)
NM_000260.3(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298
NM_000260.3(MYO7A):c.348_349insTCTACTCGCCA (p.Glu117Serfs) rs1064793208
NM_000260.3(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516
NM_000260.3(MYO7A):c.3504-1G>C rs1555090171
NM_000260.3(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214
NM_000260.3(MYO7A):c.3564_3571delTGCCCGGGinsA (p.Tyr1188Terfs) rs797044513
NM_000260.3(MYO7A):c.3590T>C (p.Leu1197Pro)
NM_000260.3(MYO7A):c.3591_3592delCT (p.Cys1198Argfs) rs1555090368
NM_000260.3(MYO7A):c.3594C>A (p.Cys1198Ter) rs782694195
NM_000260.3(MYO7A):c.3696_3706delAAGGACCTTTG (p.Arg1232Serfs) rs397516303
NM_000260.3(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.3(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.3(MYO7A):c.3728_3729insC (p.Pro1244Alafs) rs397516304
NM_000260.3(MYO7A):c.3764delA (p.Lys1255Argfs) rs111033347
NM_000260.3(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.3(MYO7A):c.4006C>T (p.Gln1336Ter)
NM_000260.3(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715
NM_000260.3(MYO7A):c.4225delC (p.Leu1409Serfs) rs1398609491
NM_000260.3(MYO7A):c.4293G>A (p.Trp1431Ter) rs397516308
NM_000260.3(MYO7A):c.4297delC (p.Gln1433Serfs) rs1555096223
NM_000260.3(MYO7A):c.448C>T (p.Arg150Ter) rs121965079
NM_000260.3(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257
NM_000260.3(MYO7A):c.4544_4551delAGATCATGinsCA (p.Glu1515_Met1517delinsAla) rs111033259
NM_000260.3(MYO7A):c.4555delG (p.Val1519Cysfs) rs876657712
NM_000260.3(MYO7A):c.470+1G>A rs797044510
NM_000260.3(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944
NM_000260.3(MYO7A):c.4821T>A (p.Tyr1607Ter) rs397516315
NM_000260.3(MYO7A):c.4838delA (p.Asp1613Valfs) rs1199012623
NM_000260.3(MYO7A):c.494C>T (p.Thr165Met) rs111033174
NM_000260.3(MYO7A):c.496delG (p.Glu166Argfs) rs111033448
NM_000260.3(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182
NM_000260.3(MYO7A):c.5146_5148delGAG (p.Glu1716del) rs1555102843
NM_000260.3(MYO7A):c.52C>T (p.Gln18Ter) rs1555051455
NM_000260.3(MYO7A):c.5326+3A>G
NM_000260.3(MYO7A):c.5345G>C (p.Gly1782Ala)
NM_000260.3(MYO7A):c.5392C>T (p.Gln1798Ter) rs397516317
NM_000260.3(MYO7A):c.5522C>G (p.Thr1841Arg)
NM_000260.3(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015
NM_000260.3(MYO7A):c.5581C>T (p.Arg1861Ter) rs878864531
NM_000260.3(MYO7A):c.5581_5582insC (p.Arg1861Profs) rs397516320
NM_000260.3(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321
NM_000260.3(MYO7A):c.5632delC (p.Leu1878Terfs) rs1299898646
NM_000260.3(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215
NM_000260.3(MYO7A):c.565_566delGT (p.Val189Leufs) rs1060499651
NM_000260.3(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180
NM_000260.3(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192
NM_000260.3(MYO7A):c.582delC (p.Ile195Phefs) rs111033238
NM_000260.3(MYO7A):c.5845_5855delATTGCAGACAA (p.Ile1949Glyfs) rs876657713
NM_000260.3(MYO7A):c.5856+5G>C
NM_000260.3(MYO7A):c.5886_5888delCTT (p.Phe1963del) rs111033232
NM_000260.3(MYO7A):c.5886_5889delCTTT (p.Phe1962Leufs) rs1397834886
NM_000260.3(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423
NM_000260.3(MYO7A):c.5944G>A (p.Gly1982Arg) rs761469964
NM_000260.3(MYO7A):c.5968C>T (p.Gln1990Ter) rs773844428
NM_000260.3(MYO7A):c.6025delG (p.Ala2009Profs) rs397516326
NM_000260.3(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966
NM_000260.3(MYO7A):c.6029A>G (p.Asp2010Gly) rs111033175
NM_000260.3(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198
NM_000260.3(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.3(MYO7A):c.620A>G (p.Asn207Ser) rs878853235
NM_000260.3(MYO7A):c.6211C>T (p.Gln2071Ter) rs1060499802
NM_000260.3(MYO7A):c.6231_6232insG (p.Lys2078Glufs) rs730880367
NM_000260.3(MYO7A):c.6321G>A (p.Trp2107Ter) rs773945008
NM_000260.3(MYO7A):c.634C>T (p.Arg212Cys) rs121965080
NM_000260.3(MYO7A):c.635G>A (p.Arg212His) rs28934610
NM_000260.3(MYO7A):c.640G>A (p.Gly214Arg) rs111033283
NM_000260.3(MYO7A):c.6439-2A>G rs397516330
NM_000260.3(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448
NM_000260.3(MYO7A):c.6498C>A (p.Tyr2166Ter) rs397516331
NM_000260.3(MYO7A):c.652G>A (p.Asp218Asn) rs201539845
NM_000260.3(MYO7A):c.652_657delGACATC (p.Asp218_Ile219del) rs1555062984
NM_000260.3(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000260.3(MYO7A):c.700C>T (p.Gln234Ter) rs41298133
NM_000260.3(MYO7A):c.731G>C (p.Arg244Pro) rs121965081
NM_000260.3(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.3(MYO7A):c.77C>A (p.Ala26Glu) rs369125667
NM_000260.3(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000260.3(MYO7A):c.973_976delATCC (p.Ile325Cysfs) rs797044490
NM_000260.3(MYO7A):c.999T>G (p.Tyr333Ter) rs111033285
NM_000260.3(MYO7A):c.[1969C>T];[29T>C]
NM_000260.3:c.(?_6355)_(6648_?)del
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587
NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter) rs782255281
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.4439C>A (p.Ser1480Ter)
NM_000260.4(MYO7A):c.6230G>A (p.Trp2077Ter)
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135
NM_001127180.1(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_001127180.1(MYO7A):c.20G>T (p.Gly7Val)
NM_001127180.1(MYO7A):c.2339delG (p.Gly780Valfs)
NM_001127180.1(MYO7A):c.3728C>G (p.Pro1243Arg)
NM_001127180.1(MYO7A):c.4153-2A>G rs1060499803
NP_000251.3(MYO7A):p.Tyr1302fsTer97

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