ClinVar Miner

List of variants in gene MYO7A reported as pathogenic

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Total variants: 213
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HGVS dbSNP
MYO7A, 1-BP INS, EX28
MYO7A, 9-BP DEL, EX22
MYO7A, IVS27AS, G-C, -1
NC_000011.10:g.(?_77166046)_(77177653_?)del
NC_000011.10:g.(?_77208430)_(77211937_?)del
NC_000011.10:g.(?_77212952)_(77214696_?)del
NM_000260.3(MYO7A):c.1556delG (p.Gly519Alafs) rs606231379
NM_000260.3(MYO7A):c.1969C>T rs878853236
NM_000260.3(MYO7A):c.[1969C>T];[29T>C]
NM_000260.4(MYO7A):c.1074del (p.Glu360fs)
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1134_1146dup (p.Ser383fs) rs1591286671
NM_000260.4(MYO7A):c.1184G>A (p.Arg395His) rs387906700
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667
NM_000260.4(MYO7A):c.1198_1199dup (p.Gly401fs) rs1591287317
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587
NM_000260.4(MYO7A):c.133-2A>G rs782064437
NM_000260.4(MYO7A):c.133G>T (p.Glu45Ter) rs368877140
NM_000260.4(MYO7A):c.1344-2A>G rs111033415
NM_000260.4(MYO7A):c.1353_1360del (p.Gln451fs) rs1555069242
NM_000260.4(MYO7A):c.135_136AC[3] (p.Trp47fs) rs1057519225
NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile) rs121965084
NM_000260.4(MYO7A):c.13C>T (p.Gln5Ter)
NM_000260.4(MYO7A):c.141G>A (p.Trp47Ter) rs397516285
NM_000260.4(MYO7A):c.1426G>T (p.Glu476Ter)
NM_000260.4(MYO7A):c.1555-8C>G rs1057517774
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206
NM_000260.4(MYO7A):c.1563del (p.Asp521fs) rs1064794012
NM_000260.4(MYO7A):c.1574T>G (p.Leu525Ter)
NM_000260.4(MYO7A):c.1623del (p.Lys542fs)
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter) rs1591310948
NM_000260.4(MYO7A):c.1771C>T (p.Gln591Ter)
NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile) rs121965082
NM_000260.4(MYO7A):c.1820C>A (p.Ser607Ter) rs782598897
NM_000260.4(MYO7A):c.183del (p.Thr62fs) rs1446588093
NM_000260.4(MYO7A):c.1845del (p.Lys615fs) rs886037762
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.1853T>G (p.Leu618Arg)
NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter) rs121965083
NM_000260.4(MYO7A):c.19-2A>G rs1555051384
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180
NM_000260.4(MYO7A):c.1940del (p.Phe647fs)
NM_000260.4(MYO7A):c.1952T>C (p.Leu651Pro) rs876657416
NM_000260.4(MYO7A):c.1963C>T (p.Gln655Ter) rs397516291
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter) rs878853378
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) rs121965085
NM_000260.4(MYO7A):c.1997G>C (p.Arg666Pro)
NM_000260.4(MYO7A):c.2003G>A (p.Arg668His)
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.4(MYO7A):c.2011G>A (p.Gly671Ser) rs387906699
NM_000260.4(MYO7A):c.2019del (p.Ile674fs)
NM_000260.4(MYO7A):c.2094+1G>A rs111033404
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val) rs781989117
NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter) rs782255281
NM_000260.4(MYO7A):c.2116C>T (p.Gln706Ter)
NM_000260.4(MYO7A):c.2172del (p.Lys725fs) rs397516294
NM_000260.4(MYO7A):c.2187+1G>A rs111033290
NM_000260.4(MYO7A):c.2187+1G>T rs111033290
NM_000260.4(MYO7A):c.223del (p.Asp75fs) rs876657415
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2307del (p.Asn769fs) rs1060499800
NM_000260.4(MYO7A):c.2311G>T (p.Ala771Ser) rs782384464
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914
NM_000260.4(MYO7A):c.2339del (p.Gly780fs) rs1565402473
NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter) rs1279918132
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) rs781790246
NM_000260.4(MYO7A):c.2707C>T (p.Gln903Ter)
NM_000260.4(MYO7A):c.2750del (p.Glu917fs) rs1591378140
NM_000260.4(MYO7A):c.2838del (p.Met946fs)
NM_000260.4(MYO7A):c.285+1G>C rs782661097
NM_000260.4(MYO7A):c.285+2T>C rs782292032
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.285C>A (p.Tyr95Ter)
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter)
NM_000260.4(MYO7A):c.3143del (p.Phe1048fs)
NM_000260.4(MYO7A):c.321_322insA (p.Tyr108fs) rs1324244950
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635
NM_000260.4(MYO7A):c.3327del (p.His1109fs) rs111033433
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817
NM_000260.4(MYO7A):c.338_348dup (p.Glu117fs) rs1064793208
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516
NM_000260.4(MYO7A):c.3504-1G>C rs1555090171
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214
NM_000260.4(MYO7A):c.3541_3542CA[3] (p.Asn1182fs) rs111033390
NM_000260.4(MYO7A):c.3564_3571delinsA (p.Tyr1188_Gly1191delinsTer) rs797044513
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.3587_3588CT[2] (p.Cys1198fs) rs1555090368
NM_000260.4(MYO7A):c.3590T>C (p.Leu1197Pro) rs1565430886
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter) rs782694195
NM_000260.4(MYO7A):c.3696_3706del (p.Arg1232fs) rs397516303
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg) rs750358148
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs) rs397516304
NM_000260.4(MYO7A):c.3729dup (p.Pro1244fs)
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.385G>T (p.Glu129Ter)
NM_000260.4(MYO7A):c.3872_3873TC[3] (p.Leu1293fs) rs760251968
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.3944_3945dup (p.Ser1316fs)
NM_000260.4(MYO7A):c.3957dup (p.Met1320fs)
NM_000260.4(MYO7A):c.397del (p.His133fs)
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs) rs1480697910
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715
NM_000260.4(MYO7A):c.4153-2A>G rs1060499803
NM_000260.4(MYO7A):c.4225del (p.Leu1409fs) rs1398609491
NM_000260.4(MYO7A):c.4248C>A (p.Tyr1416Ter) rs760292207
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs) rs1555096070
NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter) rs397516308
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs) rs1555096223
NM_000260.4(MYO7A):c.4354C>T (p.Gln1452Ter)
NM_000260.4(MYO7A):c.4398G>A (p.Trp1466Ter)
NM_000260.4(MYO7A):c.4439C>A (p.Ser1480Ter) rs1565455391
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) rs751769391
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter) rs121965079
NM_000260.4(MYO7A):c.4500_4501TG[1] (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257
NM_000260.4(MYO7A):c.4544_4551delinsCA (p.Glu1515_Met1517delinsAla) rs111033259
NM_000260.4(MYO7A):c.4555del (p.Val1519fs) rs876657712
NM_000260.4(MYO7A):c.4613del (p.Cys1538fs)
NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter)
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer) rs1555100273
NM_000260.4(MYO7A):c.470+1G>A rs797044510
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter) rs1052030
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) rs397516315
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) rs1199012623
NM_000260.4(MYO7A):c.4852+1G>A
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) rs111033174
NM_000260.4(MYO7A):c.496del (p.Glu166fs) rs111033448
NM_000260.4(MYO7A):c.4996_4997del (p.Ser1666fs) rs1591467894
NM_000260.4(MYO7A):c.5069_5070insC (p.Gln1690fs) rs1591470904
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182
NM_000260.4(MYO7A):c.5143_5145GAG[1] (p.Glu1716del) rs1555102843
NM_000260.4(MYO7A):c.5146G>T (p.Glu1716Ter)
NM_000260.4(MYO7A):c.5156_5157del (p.Ser1718_Tyr1719insTer)
NM_000260.4(MYO7A):c.5168+2T>C rs1192104600
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter) rs111033477
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) rs1555051455
NM_000260.4(MYO7A):c.5326+3A>G rs1565469959
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) rs751242455
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) rs397516317
NM_000260.4(MYO7A):c.5420_5421dup (p.Pro1808fs) rs1591479405
NM_000260.4(MYO7A):c.5458C>T (p.Gln1820Ter)
NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg) rs746667217
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) rs878864531
NM_000260.4(MYO7A):c.5581dup (p.Arg1861fs) rs397516320
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer) rs1299898646
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215
NM_000260.4(MYO7A):c.565_566del (p.Val189fs) rs1060499651
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter)
NM_000260.4(MYO7A):c.5785C>T (p.Gln1929Ter)
NM_000260.4(MYO7A):c.5820_5821AG[1] (p.Glu1941fs)
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192
NM_000260.4(MYO7A):c.582del (p.Ile195fs) rs111033238
NM_000260.4(MYO7A):c.5837_5838del (p.Phe1946fs)
NM_000260.4(MYO7A):c.5845_5855del (p.Ile1949fs) rs876657713
NM_000260.4(MYO7A):c.5856+5G>C rs1386887007
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=) rs1453053718
NM_000260.4(MYO7A):c.5880_5882CTT[2] (p.Phe1963del) rs111033232
NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs) rs1397834886
NM_000260.4(MYO7A):c.5887_5889del (p.Phe1963del)
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423
NM_000260.4(MYO7A):c.5944G>A (p.Gly1982Arg) rs761469964
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter) rs773844428
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966
NM_000260.4(MYO7A):c.6029A>G (p.Asp2010Gly) rs111033175
NM_000260.4(MYO7A):c.6044_6047dup (p.Tyr2016Ter) rs1591496649
NM_000260.4(MYO7A):c.6051+1G>A rs1403288739
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.4(MYO7A):c.6196del (p.Gln2066fs) rs1472611150
NM_000260.4(MYO7A):c.620A>G (p.Asn207Ser) rs878853235
NM_000260.4(MYO7A):c.6211C>T (p.Gln2071Ter) rs1060499802
NM_000260.4(MYO7A):c.6230G>A (p.Trp2077Ter) rs776930594
NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs) rs730880367
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486
NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter) rs773945008
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys) rs121965080
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283
NM_000260.4(MYO7A):c.6439-1G>A rs1591514873
NM_000260.4(MYO7A):c.6439-2A>G rs397516330
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448
NM_000260.4(MYO7A):c.6498C>A (p.Tyr2166Ter) rs397516331
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845
NM_000260.4(MYO7A):c.652_657del (p.Asp218_Ile219del) rs1555062984
NM_000260.4(MYO7A):c.655_660del (p.Ile219_His220del)
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) rs41298133
NM_000260.4(MYO7A):c.731G>C (p.Arg244Pro) rs121965081
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.4(MYO7A):c.77C>A (p.Ala26Glu) rs369125667
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000260.4(MYO7A):c.973_976del (p.Ile325fs) rs797044490
NM_000260.4(MYO7A):c.999T>A (p.Tyr333Ter)
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) rs111033285
NM_000260.4(MYO7A):c.99_100del (p.Gly34fs)
NP_000251.3(MYO7A):p.Tyr1302fsTer97

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