ClinVar Miner

List of variants in gene MYH7 reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 123
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HGVS dbSNP
NM_000257.4(MYH7):c.1003G>C (p.Ala335Pro) rs727503272
NM_000257.4(MYH7):c.1012G>A (p.Val338Met) rs727503271
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1130G>A (p.Gly377Asp) rs1085307959
NM_000257.4(MYH7):c.1148A>G (p.Lys383Arg) rs397516092
NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) rs727503269
NM_000257.4(MYH7):c.1316T>G (p.Met439Arg) rs730880927
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1396G>C (p.Glu466Gln) rs4981473
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.1479G>A (p.Met493Ile) rs730880876
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911
NM_000257.4(MYH7):c.1571T>C (p.Ile524Thr) rs730880929
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238
NM_000257.4(MYH7):c.1801C>G (p.Leu601Val) rs1131691685
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2018T>G (p.Ile673Ser) rs730880884
NM_000257.4(MYH7):c.2063T>C (p.Leu688Pro) rs730880731
NM_000257.4(MYH7):c.2081G>A (p.Arg694His) rs886039030
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn) rs397516132
NM_000257.4(MYH7):c.2123G>C (p.Gly708Ala) rs397516134
NM_000257.4(MYH7):c.2149G>A (p.Asp717Asn) rs1057524857
NM_000257.4(MYH7):c.2153T>G (p.Phe718Cys) rs1060501432
NM_000257.4(MYH7):c.2160G>C (p.Gln720His) rs730880733
NM_000257.4(MYH7):c.2198G>T (p.Gly733Val) rs727504241
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val) rs397516138
NM_000257.4(MYH7):c.2212A>T (p.Ser738Cys) rs1064796729
NM_000257.4(MYH7):c.2213G>C (p.Ser738Thr) rs730880894
NM_000257.4(MYH7):c.2222G>A (p.Gly741Glu) rs1057520814
NM_000257.4(MYH7):c.2229G>C (p.Glu743Asp) rs397516139
NM_000257.4(MYH7):c.2282C>A (p.Thr761Asn) rs1555337846
NM_000257.4(MYH7):c.2346C>A (p.Ser782Arg) rs730880736
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142
NM_000257.4(MYH7):c.2378G>A (p.Arg793Gln) rs730880896
NM_000257.4(MYH7):c.2455C>T (p.Arg819Trp) rs1064793206
NM_000257.4(MYH7):c.2464A>C (p.Met822Leu) rs730880742
NM_000257.4(MYH7):c.2464A>T (p.Met822Leu) rs730880742
NM_000257.4(MYH7):c.2473A>C (p.Lys825Gln) rs730880743
NM_000257.4(MYH7):c.2478T>A (p.Asn826Lys) rs730880898
NM_000257.4(MYH7):c.2495T>C (p.Leu832Pro) rs730880745
NM_000257.4(MYH7):c.2518C>A (p.Leu840Met) rs730880747
NM_000257.4(MYH7):c.2519T>C (p.Leu840Pro) rs1131691577
NM_000257.4(MYH7):c.2525G>A (p.Ser842Asn) rs397516154
NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly) rs727504311
NM_000257.4(MYH7):c.2555T>A (p.Met852Lys) rs397516157
NM_000257.4(MYH7):c.2560_2562GAG[1] (p.Glu855del) rs730880887
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu) rs730880749
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2666_2667delinsAA (p.Leu889Gln) rs730880888
NM_000257.4(MYH7):c.2696C>A (p.Ala899Glu) rs730880753
NM_000257.4(MYH7):c.2698G>A (p.Asp900Asn) rs730880754
NM_000257.4(MYH7):c.2734A>C (p.Lys912Gln) rs730880758
NM_000257.4(MYH7):c.2785G>A (p.Glu929Lys) rs730880161
NM_000257.4(MYH7):c.2791G>A (p.Glu931Lys) rs1131691514
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761
NM_000257.4(MYH7):c.2822G>C (p.Arg941Pro) rs765458590
NM_000257.4(MYH7):c.2893G>A (p.Glu965Lys) rs863225100
NM_000257.4(MYH7):c.2959G>A (p.Glu987Lys) rs730880902
NM_000257.4(MYH7):c.2974C>A (p.Leu992Met) rs149840927
NM_000257.4(MYH7):c.29G>C (p.Gly10Ala) rs730880826
NM_000257.4(MYH7):c.3020T>C (p.Leu1007Pro) rs730880763
NM_000257.4(MYH7):c.3037G>A (p.Glu1013Lys) rs730880764
NM_000257.4(MYH7):c.3094G>A (p.Asp1032Asn) rs730880765
NM_000257.4(MYH7):c.3126G>T (p.Lys1042Asn) rs730880766
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033
NM_000257.4(MYH7):c.3160A>G (p.Lys1054Glu) rs730880768
NM_000257.4(MYH7):c.3163C>A (p.Leu1055Met) rs730880769
NM_000257.4(MYH7):c.3337G>A (p.Ala1113Thr) rs193922388
NM_000257.4(MYH7):c.3341G>A (p.Arg1114His) rs730880773
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr) rs730880833
NM_000257.4(MYH7):c.3597C>G (p.Ser1199Arg) rs730880779
NM_000257.4(MYH7):c.3621C>G (p.Ile1207Met) rs529700838
NM_000257.4(MYH7):c.3627C>G (p.Asn1209Lys) rs730880782
NM_000257.4(MYH7):c.3705_3716del (p.Met1235_Ile1238del) rs730880890
NM_000257.4(MYH7):c.3812_3823del (p.Asn1271_Thr1274del) rs1555337023
NM_000257.4(MYH7):c.3814G>A (p.Asp1272Asn) rs730880906
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys) rs730880785
NM_000257.4(MYH7):c.3901_3903del (p.Leu1301del) rs730880934
NM_000257.4(MYH7):c.3991C>G (p.His1331Asp) rs1057517881
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.4070T>C (p.Leu1357Pro) rs730880788
NM_000257.4(MYH7):c.4093A>G (p.Asn1365Asp) rs730880907
NM_000257.4(MYH7):c.4126G>A (p.Glu1376Lys) rs730880791
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201
NM_000257.4(MYH7):c.4238C>T (p.Ser1413Leu) rs730880796
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209
NM_000257.4(MYH7):c.442A>C (p.Ser148Arg) rs730880836
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu) rs730880837
NM_000257.4(MYH7):c.485A>G (p.Tyr162Cys) rs1057517771
NM_000257.4(MYH7):c.494T>A (p.Met165Lys) rs730880920
NM_000257.4(MYH7):c.511A>C (p.Asn171His) rs730880842
NM_000257.4(MYH7):c.5254G>A (p.Glu1752Lys) rs730880916
NM_000257.4(MYH7):c.5359G>C (p.Glu1787Gln) rs1085308025
NM_000257.4(MYH7):c.5364_5366del (p.Gln1788_Thr1789delinsHis) rs876661179
NM_000257.4(MYH7):c.5380C>A (p.Gln1794Lys) rs397516247
NM_000257.4(MYH7):c.5380C>G (p.Gln1794Glu) rs397516247
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys) rs730880816
NM_000257.4(MYH7):c.5398G>C (p.Ala1800Pro) rs730880917
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp) rs763073072
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.4(MYH7):c.550A>C (p.Lys184Gln) rs730880843
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys) rs730880821
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
NM_000257.4(MYH7):c.5659del (p.Glu1887fs) rs730880892
NM_000257.4(MYH7):c.5690G>A (p.Arg1897His) rs727503240
NM_000257.4(MYH7):c.596C>T (p.Ala199Val) rs727504283
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) rs397516258
NM_000257.4(MYH7):c.617A>G (p.Lys206Arg) rs730880846
NM_000257.4(MYH7):c.649G>C (p.Glu217Gln) rs730880847
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091
NM_000257.4(MYH7):c.725C>G (p.Ser242Cys) rs730880921
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000257.4(MYH7):c.748A>T (p.Ile250Phe) rs397516268
NM_000257.4(MYH7):c.758G>T (p.Gly253Val) rs730880853
NM_000257.4(MYH7):c.842G>C (p.Arg281Thr) rs730880856
NM_000257.4(MYH7):c.848A>G (p.Tyr283Cys) rs727503274
NM_000257.4(MYH7):c.871T>C (p.Ser291Pro) rs730880857
NM_000257.4(MYH7):c.964T>A (p.Ser322Thr) rs730880859

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