"ClinGen Cardiomyopathy Variant Curation Expert Panel"[submitter] AND - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 43088	NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)	MYH7 (E1914K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 43086	NM_000257.4(MYH7):c.5736C>T (p.Ile1912=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43085	NM_000257.4(MYH7):c.5726G>C (p.Arg1909Pro)	MYH7 (R1909P)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance FDA Recognized database
Select item 43082	NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln)	MYH7 (E1902Q)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 14121	NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys)	MYH7 (E1883K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 43076	NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln)	MYH7 (R1863Q)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance FDA Recognized database
Select item 181286	NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln)	MYH7 (R1845Q)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance FDA Recognized database
Select item 181285	NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys)	MYH7 (E1844K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance FDA Recognized database
Select item 181282	NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp)	MYH7 (R1820W)	Single nucleotide variant (missense variant)	Myosin storage myopathy	GUncertain significance FDA Recognized database
Select item 217468	NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser)	MYH7 (G1808S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 43069	NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)	MYH7 (E1801K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 181278	NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys)	MYH7 (E1799K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance FDA Recognized database
Select item 43064	NM_000257.4(MYH7):c.5342G>A (p.Arg1781His)	MYH7 (R1781H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 177697	NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)	MYH7 (A1777T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance FDA Recognized database
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 161323	NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met)	LOC126861897, MYH7 (L1769M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 43059	NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys)	LOC126861897, MYH7 (E1768K)	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 14118	NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)	LOC126861897, MHRT +1 more (R1712W)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GLikely pathogenic 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 43048	NM_000257.4(MYH7):c.4974C>T (p.Asp1658=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43044	NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)	LOC126861897, MHRT +1 more (A1637T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 43035	NM_000257.4(MYH7):c.4788G>A (p.Ser1596=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43032	NM_000257.4(MYH7):c.4716C>T (p.Ile1572=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43031	NM_000257.4(MYH7):c.4671G>A (p.Lys1557=)	MHRT, LOC126861897 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43029	NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)	MHRT, MYH7 (R1530*)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance FDA Recognized database
Select item 43027	NM_000257.4(MYH7):c.4566T>C (p.Thr1522=)	MHRT, MYH7	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 180439	NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln)	MHRT, MYH7 (R1500Q)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance FDA Recognized database
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 43019	NM_000257.4(MYH7):c.4452C>T (p.Leu1484=)	MHRT, MYH7	Single nucleotide variant (non-coding transcript variant +1 more)	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 43011	NM_000257.4(MYH7):c.4354-7C>T	MHRT, MYH7	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 164289	NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)	MHRT, MYH7 (L1428S)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 43005	NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys)	MHRT, MYH7 (E1426K)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance FDA Recognized database
Select item 43003	NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)	MYH7 (R1420W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 42999	NM_000257.4(MYH7):c.4210G>A (p.Val1404Met)	MYH7 (V1404M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 42992	NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)	MYH7 (T1377M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 164294	NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys)	MYH7 (E1356K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 42988	NM_000257.4(MYH7):c.4005G>A (p.Ser1335=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 36641	NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)	MYH7 (N1327K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely benign FDA Recognized database
Select item 42980	NM_000257.4(MYH7):c.3918C>T (p.Leu1306=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 181236	NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys)	MYH7 (E1295K)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance FDA Recognized database
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 42977	NM_000257.4(MYH7):c.3853+7C>T	MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42974	NM_000257.4(MYH7):c.3777C>T (p.His1259=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 188628	NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser)	MYH7 (N1257S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42968	NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del)	MYH7 (E1220del)	Deletion (inframe_deletion)	Ebstein anomaly	GUncertain significance FDA Recognized database
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 42959	NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr)	MYH7 (A1128T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 42957	NM_000257.4(MYH7):c.3351G>A (p.Glu1117=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 36638	NM_000257.4(MYH7):c.3337G>A (p.Ala1113Thr)	MYH7 (A1113T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 42956	NM_000257.4(MYH7):c.3337-4dup	MYH7	Duplication	Cardiomyopathy	GBenign FDA Recognized database
Select item 42953	NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)	MYH7 (D1096Y)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 42950	NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)	MYH7 (G1057S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 155814	NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)	MYH7 (R1053Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 42949	NM_000257.4(MYH7):c.3156G>A (p.Lys1052=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
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 42948	NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)	MYH7 (R1045L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 177753	NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)	MYH7 (R1045C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance 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 181210	NM_000257.4(MYH7):c.3020T>C (p.Leu1007Pro)	MYH7 (L1007P)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance 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 42939	NM_000257.4(MYH7):c.2907C>T (p.His969=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 14093	NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)	MYH7 (E949K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 181207	NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)	MYH7 (E935V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 42934	NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del)	MYH7 (E931del)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
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 14097	NM_000257.4(MYH7):c.2722C>G (p.Leu908Val)	MYH7 (L908V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14125	NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)	MYH7 (D906G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 181203	NM_000257.4(MYH7):c.2714G>C (p.Cys905Ser)	MYH7 (C905S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
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 164316	NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys)	MYH7 (R904C)	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 177763	NM_000257.4(MYH7):c.2678C>T (p.Ala893Val)	LOC126861898, MYH7 (A893V)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance FDA Recognized database
Select item 164319	NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu)	LOC126861898, MYH7 (A893E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 36637	NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del)	LOC126861898, MYH7 (K884del)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 14120	NM_000257.4(MYH7):c.2609G>A (p.Arg870His)	LOC126861898, MYH7 (R870H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 161326	NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)	LOC126861898, MYH7 (R870C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic 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 177847	NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro)	LOC126861898, MYH7 (A868P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 181195	NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu)	LOC126861898, MYH7 (K865E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 42915	NM_000257.4(MYH7):c.2553C>A (p.Ser851=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42913	NM_000257.4(MYH7):c.2539_2541del (p.Lys847del)	LOC126861898, MYH7 (K847del)	Deletion (inframe_deletion)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 177757	NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu)	LOC126861898, MYH7 (K847E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 42911	NM_000257.4(MYH7):c.2514G>A (p.Pro838=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42910	NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu)	LOC126861898, MYH7 (P838L)	Single nucleotide variant (missense variant)	Restrictive cardiomyopathy	GPathogenic FDA Recognized database
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 164334	NM_000257.4(MYH7):c.2358G>T (p.Thr786=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign 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 14098	NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)	MYH7 (G741R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 181368	NM_000257.4(MYH7):c.2213G>C (p.Ser738Thr)	MYH7 (S738T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 164342	NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)	MYH7 (I736T)	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 14095	NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)	MYH7 (R723C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 42884	NM_000257.4(MYH7):c.2162+4G>A	MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy	GBenign 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 14105	NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg)	MYH7 (G716R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 177734	NM_000257.4(MYH7):c.2129C>A (p.Pro710His)	MYH7 (P710H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database

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