List of variants in gene MYH7 reported as likely pathogenic by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 53

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.2081G>A (p.Arg694His)	rs886039030	0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)	rs45611033	0.00003
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)	rs727503278	0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His)	rs397516260	0.00003
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)	rs727504238	0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met)	rs376897125	0.00002
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile)	rs730880868	0.00001
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)	rs148808089	0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)	rs397516103	0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys)	rs121913651	0.00001
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn)	rs564101364	0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)	rs121913626	0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)	rs727504240	0.00001
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)	rs397516179	0.00001
NM_000257.4(MYH7):c.343T>C (p.Tyr115His)	rs397516183	0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)	rs727504325	0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)	rs397516209	0.00001
NM_000257.4(MYH7):c.550A>C (p.Lys184Gln)	rs730880843	0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)	rs45516091	0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)	rs397516265	0.00001
NM_000257.4(MYH7):c.728G>A (p.Arg243His)	rs267606910	0.00001
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.1219G>T (p.Gly407Cys)
NM_000257.4(MYH7):c.1220G>T (p.Gly407Val)	rs397516095
NM_000257.4(MYH7):c.1319T>C (p.Val440Ala)	rs1244840759
NM_000257.4(MYH7):c.1358G>T (p.Arg453Leu)	rs397516101
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser)	rs727504236
NM_000257.4(MYH7):c.1477A>G (p.Met493Val)	rs730880875
NM_000257.4(MYH7):c.1618T>C (p.Phe540Leu)	rs1060501443
NM_000257.4(MYH7):c.1751G>A (p.Gly584Asp)
NM_000257.4(MYH7):c.1826A>G (p.Tyr609Cys)	rs727504925
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser)	rs397516127
NM_000257.4(MYH7):c.2104A>G (p.Ile702Val)	rs863225101
NM_000257.4(MYH7):c.2129C>A (p.Pro710His)	rs727504272
NM_000257.4(MYH7):c.2711G>C (p.Arg904Pro)	rs397516165
NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys)	rs730880759
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn)	rs727503252
NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn)	rs886039204
NM_000257.4(MYH7):c.2886del (p.Val964fs)	rs886038901
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)	rs397516178
NM_000257.4(MYH7):c.3347AGGAGCTGGAGG[3] (p.1116EELE[3])	rs1064792935
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp)	rs730880910
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln)	rs397516207
NM_000257.4(MYH7):c.596C>T (p.Ala199Val)	rs727504283
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu)	rs397516260
NM_000257.4(MYH7):c.676G>A (p.Ala226Thr)	rs1057517773
NM_000257.4(MYH7):c.732+1G>A	rs730880850
NM_000257.4(MYH7):c.739T>C (p.Phe247Leu)	rs727503276
NM_000257.4(MYH7):c.741C>A (p.Phe247Leu)	rs1566537070
NM_000257.4(MYH7):c.746G>T (p.Arg249Leu)	rs3218713
NM_000257.4(MYH7):c.815G>C (p.Arg272Thr)	rs1555338578
NM_000257.4(MYH7):c.842G>C (p.Arg281Thr)	rs730880856

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