"Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 487639	NM_000257.4(MYH7):c.5779A>T (p.Ile1927Phe)	MYH7 (I1927F)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 684825	NM_000257.4(MYH7):c.5616G>T (p.Gln1872His)	MYH7 (Q1872H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 43073	NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr)	MYH7 (A1834T)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 177629	NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)	MYH7 (S1776G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 36642	NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	LOC126861897, MHRT +1 more (R1712Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 43056	NM_000257.4(MYH7):c.5106G>A (p.Ala1702=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 432229	NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val)	LOC126861897, MHRT +1 more (A1639V)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +9 more	GUncertain significance
Select item 228913	NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val)	LOC126861897, MHRT +1 more (A1611V)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1A +4 more	GUncertain significance
Select item 43039	NM_000257.4(MYH7):c.4817G>A (p.Arg1606His)	LOC126861897, MHRT +1 more (R1606H)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 660218	NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr)	LOC126861897, MHRT +1 more (A1586T)	Single nucleotide variant (non-coding transcript variant +1 more)	Conduction disorder of the heart +8 more	GUncertain significance
Select item 978280	NM_000257.4(MYH7):c.4543C>G (p.Gln1515Glu)	MHRT, MYH7 (Q1515E)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 43020	NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)	MHRT, MYH7 (S1491C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43012	NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)	MHRT, MYH7 (K1459N)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 188632	NM_000257.4(MYH7):c.4182C>T (p.Ala1394=)	MYH7	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 181244	NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys)	MYH7 (E1387K)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 42979	NM_000257.4(MYH7):c.3864C>G (p.Ser1288=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 234775	NM_000257.4(MYH7):c.3676C>G (p.Leu1226Val)	MYH7 (L1226V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 523704	NM_000257.4(MYH7):c.3634C>T (p.Arg1212Trp)	MYH7 (R1212W)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 520451	NM_000257.4(MYH7):c.3592G>T (p.Asp1198Tyr)	MYH7 (D1198Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 42965	NM_000257.4(MYH7):c.3578G>A (p.Arg1193His)	MYH7 (R1193H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 684861	NM_000257.4(MYH7):c.3577C>T (p.Arg1193Cys)	MYH7 (R1193C)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 181384	NM_000257.4(MYH7):c.3407G>A (p.Arg1136His)	MYH7 (R1136H)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 407199	NM_000257.4(MYH7):c.3376C>T (p.Arg1126Cys)	MYH7 (R1126C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 42956	NM_000257.4(MYH7):c.3337-4dup	MYH7	Duplication	Cardiomyopathy	GBenign FDA Recognized database
Select item 161325	NM_000257.4(MYH7):c.3301G>A (p.Gly1101Ser)	MYH7 (G1101S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 164304	NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)	MYH7 (R1079W)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 42946	NM_000257.4(MYH7):c.3153G>A (p.Ala1051=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42945	NM_000257.4(MYH7):c.3036C>T (p.Ala1012=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42942	NM_000257.4(MYH7):c.2967T>C (p.Ile989=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42941	NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)	MYH7 (M982T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 525096	NM_000257.4(MYH7):c.2862C>T (p.Ile954=)	MYH7	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 164312	NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)	MYH7 (E930Q)	Single nucleotide variant (missense variant)	MYH7-related disorder +10 more	GPathogenic/Likely pathogenic
Select item 42931	NM_000257.4(MYH7):c.2769C>T (p.Asn923=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42927	NM_000257.4(MYH7):c.2744T>C (p.Leu915Pro)	MYH7 (L915P)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely pathogenic
Select item 42926	NM_000257.4(MYH7):c.2711G>A (p.Arg904His)	MYH7 (R904H)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GPathogenic FDA Recognized database
Select item 42922	NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)	MYH7 (E894G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 177667	NM_000257.4(MYH7):c.2606G>A (p.Arg869His)	LOC126861898, MYH7 (R869H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 42901	NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	LOC126861898, MYH7 (A797T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +18 more	GPathogenic/Likely pathogenic
Select item 42900	NM_000257.4(MYH7):c.2360G>A (p.Arg787His)	LOC126861898, MYH7 (R787H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely benign FDA Recognized database
Select item 177665	NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp)	MYH7 (G741W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 42885	NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly)	MYH7 (R723G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14107	NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)	MYH7 (R719Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14104	NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)	MYH7 (R719W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 164349	NM_000257.4(MYH7):c.2052G>A (p.Met684Ile)	MYH7 (M684I)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 42875	NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	MYH7 (R663H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14091	NM_000257.4(MYH7):c.1816G>A (p.Val606Met)	MYH7 (V606M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +9 more	GPathogenic/Likely pathogenic
Select item 520452	NM_000257.4(MYH7):c.1750G>T (p.Gly584Cys)	MYH7 (G584C)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GLikely pathogenic
Select item 14090	NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg)	MYH7 (G584R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 177624	NM_000257.4(MYH7):c.1549C>A (p.Leu517Met)	MYH7 (L517M)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +1 more	GLikely pathogenic
Select item 684868	NM_000257.4(MYH7):c.1547A>G (p.Asp516Gly)	MYH7 (D516G)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 138393	NM_000257.4(MYH7):c.1407T>C (p.Asp469=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 42838	NM_000257.4(MYH7):c.1358G>A (p.Arg453His)	MYH7 (R453H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14089	NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)	MYH7 (R453C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 42835	NM_000257.4(MYH7):c.1318G>A (p.Val440Met)	MYH7 (V440M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 14087	NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)	MYH7 (R403Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 42823	NM_000257.4(MYH7):c.1128C>T (p.Asp376=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42821	NM_000257.4(MYH7):c.1095G>A (p.Lys365=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42820	NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)	MYH7 (A355T)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 42819	NM_000257.4(MYH7):c.1062C>T (p.Gly354=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42817	NM_000257.4(MYH7):c.1002C>T (p.Asn334=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43116	NM_000257.4(MYH7):c.975C>T (p.Asp325=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 684823	NM_000257.4(MYH7):c.936C>A (p.Phe312Leu)	MYH7 (F312L)	Single nucleotide variant (missense variant)	Cardiomyopathy +9 more	GUncertain significance
Select item 684854	NM_000257.4(MYH7):c.803T>G (p.Leu268Arg)	MYH7 (L268R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction	GUncertain significance
Select item 43106	NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)	MYH7 (I263T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 43103	NM_000257.4(MYH7):c.732C>T (p.Phe244=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43101	NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)	MYH7 (R243C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +9 more	GConflicting classifications of pathogenicity
Select item 43100	NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)	MYH7 (D239N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 429960	NM_000257.4(MYH7):c.646C>G (p.Leu216Val)	MYH7 (L216V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 164395	NM_000257.4(MYH7):c.632C>T (p.Pro211Leu)	MYH7 (P211L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 177869	NM_000257.4(MYH7):c.611G>T (p.Arg204Leu)	MYH7 (R204L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 43095	NM_000257.4(MYH7):c.611G>A (p.Arg204His)	MYH7 (R204H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +8 more	GConflicting classifications of pathogenicity
Select item 43092	NM_000257.4(MYH7):c.597A>G (p.Ala199=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43038	NM_000257.4(MYH7):c.480C>T (p.Asn160=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43006	NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)	MYH7 (R143Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 164401	NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)	MYH7 (R143W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 862006	NM_000257.4(MYH7):c.345+1G>A	MYH7	Single nucleotide variant (splice donor variant)	Myosin storage myopathy +8 more	GUncertain significance
Select item 42944	NM_000257.4(MYH7):c.297C>T (p.Pro99=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 37375	NM_000257.4(MYH7):c.77C>T (p.Ala26Val)	MYH7 (A26V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GBenign FDA Recognized database

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Items: 78