C0949658[trait identifier] AND "Molecular Diagnostic Laboratory for In - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 201919	NM_144573.4(NEXN):c.856C>T (p.Arg286Trp)	NEXN (R286W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 47886	NM_144573.4(NEXN):c.1053+1G>A	NEXN	Single nucleotide variant (splice donor variant)	NEXN-related condition +7 more	GConflicting classifications of pathogenicity
Select item 201925	NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe)	NEXN (L479F +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 47900	NM_144573.4(NEXN):c.1996A>G (p.Thr666Ala)	NEXN (T666A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 424107	NM_144573.4(NEXN):c.2005C>T (p.Leu669Phe)	NEXN (L669F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 66856	NM_170707.4(LMNA):c.1609-3C>G	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +7 more	GPathogenic/Likely pathogenic
Select item 177636	NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)	TNNT2 (W287* +5 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 12411	NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)	TNNT2 (R278C +5 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 43670	NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile)	TNNT2 (K258I +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 43669	NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg)	TNNT2 (K253R +5 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy +11 more	GBenign/Likely benign
Select item 181635	NM_001276345.2(TNNT2):c.451del (p.Arg151fs)	TNNT2 (R151fs +3 more)	Deletion (frameshift variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 177807	NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu)	TNNT2 (F110L +2 more)	Single nucleotide variant (missense variant +1 more)	Wolff-Parkinson-White pattern +7 more	GPathogenic/Likely pathogenic
Select item 177633	NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val)	TNNT2 (A104V +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 2 +6 more	GConflicting classifications of pathogenicity
Select item 684850	NM_001276345.2(TNNT2):c.328_333del (p.Asn110_Glu111del)	TNNT2	Deletion (inframe_deletion +1 more)	Primary familial hypertrophic cardiomyopathy	GPathogenic
Select item 18313	NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)	ACTN2 (Q9R)	Single nucleotide variant (missense variant +1 more)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 463210	NM_001103.4(ACTN2):c.375C>T (p.Gly125=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 417192	NM_001103.4(ACTN2):c.744C>T (p.Tyr248=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 296503	NM_001103.4(ACTN2):c.983G>A (p.Arg328Gln)	ACTN2 (R328Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 43894	NM_001103.4(ACTN2):c.1089C>T (p.Ser363=)	ACTN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1AA +4 more	GConflicting classifications of pathogenicity
Select item 43897	NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met)	ACTN2 (T412M +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 429637	NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu)	ACTN2 (S431L +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 177977	NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu)	ACTN2 (S433L +1 more)	Single nucleotide variant (missense variant)	ACTN2-related condition +6 more	GBenign/Likely benign
Select item 201638	NM_001103.4(ACTN2):c.1307A>C (p.Glu436Ala)	ACTN2 (E436A +1 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 978316	NM_001103.4(ACTN2):c.1359G>A (p.Ala453=)	ACTN2	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 192111	NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr)	ACTN2 (A476T +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 520509	NM_001103.4(ACTN2):c.1447T>A (p.Cys483Ser)	ACTN2 (C483S +1 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 532043	NM_001103.4(ACTN2):c.1625T>C (p.Met542Thr)	ACTN2 (M542T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +3 more	GConflicting classifications of pathogenicity
Select item 520511	NM_001103.4(ACTN2):c.1775G>T (p.Arg592Ile)	ACTN2 (R592I +1 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 978317	NM_001103.4(ACTN2):c.1794G>C (p.Pro598=)	ACTN2	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +5 more	GLikely benign
Select item 201643	NM_001103.4(ACTN2):c.1799G>A (p.Ser600Asn)	ACTN2 (S600N +1 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 296506	NM_001103.4(ACTN2):c.1823G>A (p.Arg608Gln)	ACTN2 (R608Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 43920	NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr)	ACTN2 (A644T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +7 more	GConflicting classifications of pathogenicity
Select item 35650	NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met)	ACTN2 (T716M +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 177937	NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser)	ACTN2 (R721S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +7 more	GConflicting classifications of pathogenicity
Select item 429493	NM_001103.4(ACTN2):c.2231C>T (p.Thr744Met)	ACTN2 (T744M +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 520508	NM_001103.4(ACTN2):c.2485G>T (p.Glu829Ter)	ACTN2 (E829* +1 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 684853	NM_001103.4(ACTN2):c.2596A>T (p.Met866Leu)	ACTN2 (M658L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 43769	NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)	RYR2 (E1127G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 180500	NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser)	RYR2 (N3308S)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GLikely benign
Select item 177842	NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)	RAF1 (Y574C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 40623	NM_002880.4(RAF1):c.1657A>C (p.Asn553His)	RAF1 (N553H +5 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 229175	NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile)	RAF1 (A42I)	Indel (missense variant +2 more)	RASopathy	GLikely benign FDA Recognized database
Select item 9392	NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln)	SCN5A (R1193Q +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +13 more	GBenign/Likely benign
Select item 177841	NM_000258.3(MYL3):c.466G>T (p.Val156Leu)	MYL3 (V156L)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 31778	NM_000258.3(MYL3):c.466G>A (p.Val156Met)	MYL3 (V156M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 213655	NM_016599.5(MYOZ2):c.479C>T (p.Pro160Leu)	MYOZ2 (P160L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16 +4 more	GUncertain significance
Select item 192120	NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr)	LAMA4 (M419T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +3 more	GConflicting classifications of pathogenicity
Select item 67299	NM_000238.4(KCNH2):c.1862G>A (p.Ser621Asn)	KCNH2 (S281N +4 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 45705	NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter)	PRKAG2 (Q563* +4 more)	Single nucleotide variant (nonsense)	not specified +4 more	GUncertain significance
Select item 520490	NM_016203.4(PRKAG2):c.1681G>C (p.Ala561Pro)	PRKAG2 (A561P +4 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 6846	NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)	PRKAG2 (R302Q +4 more)	Single nucleotide variant (missense variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +8 more	GPathogenic
Select item 520489	NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu)	PRKAG2 (K11E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 520385	NM_032578.4(MYPN):c.2114C>T (p.Thr705Ile)	MYPN (T705I +1 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 201849	NM_007078.3(LDB3):c.1487T>C (p.Phe496Ser)	LDB3 (F496S +4 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 518679	NM_014391.3(ANKRD1):c.944G>C (p.Arg315Pro)	ANKRD1 (R315P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 45639	NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val)	ANKRD1 (A276V)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 520519	NM_003476.5(CSRP3):c.568G>T (p.Val190Leu)	CSRP3 (V190L +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 684785	NM_003476.5(CSRP3):c.209G>A (p.Gly70Glu)	CSRP3 (G70E)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 163013	NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg)	CSRP3 (G6R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 42746	NM_000256.3(MYBPC3):c.3815-1G>A	MYBPC3	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 8603	NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)	MYBPC3	Duplication (inframe_insertion)	Hypertrophic cardiomyopathy +6 more	GPathogenic
Select item 42739	NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg)	MYBPC3 (G1248R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GUncertain significance
Select item 42733	NM_000256.3(MYBPC3):c.3694A>T (p.Lys1232Ter)	MYBPC3 (K1232*)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 177689	NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His)	MYBPC3 (R1138H)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 181102	NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)	MYBPC3 (Y1136del)	Microsatellite (inframe_deletion)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 164050	NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile)	MYBPC3 (T1028I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 42682	NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)	MYBPC3 (R1022P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 36610	NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu)	MYBPC3 (Q998E)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +8 more	GBenign/Likely benign
Select item 164055	NM_000256.3(MYBPC3):c.2920C>T (p.Gln974Ter)	MYBPC3 (Q974*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 42665	NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu)	MYBPC3 (P961L)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 36607	NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)	MYBPC3 (T957S)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 228370	NM_000256.3(MYBPC3):c.2789del (p.Leu930fs)	MYBPC3 (L930fs)	Deletion (frameshift variant)	Cardiomyopathy +2 more	GPathogenic
Select item 42656	NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr)	MYBPC3 (P910T)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 42652	NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)	MYBPC3 (V896M)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign
Select item 42642	NM_000256.3(MYBPC3):c.2560A>G (p.Met854Val)	MYBPC3 (M854V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 181127	NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu)	MYBPC3 (R810L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 42619	NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)	MYBPC3 (W792fs)	Duplication	Cardiovascular phenotype +6 more	GPathogenic
Select item 42615	NM_000256.3(MYBPC3):c.2311dup (p.Val771fs)	MYBPC3 (V771fs)	Duplication	Primary familial hypertrophic cardiomyopathy +4 more	GPathogenic
Select item 161308	NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)	MYBPC3 (V771M)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +6 more	GConflicting classifications of pathogenicity
Select item 42613	NM_000256.3(MYBPC3):c.2309-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +6 more	GPathogenic
Select item 42610	NM_000256.3(MYBPC3):c.2308+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
Select item 36604	NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)	MYBPC3 (D770N)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 437425	NM_000256.3(MYBPC3):c.2149-2del	MYBPC3	Deletion (splice acceptor variant)	Primary familial hypertrophic cardiomyopathy +2 more	GPathogenic
Select item 264066	NM_000256.3(MYBPC3):c.2125G>A (p.Asp709Asn)	MYBPC3 (D709N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 454309	NM_000256.3(MYBPC3):c.2063C>T (p.Thr688Met)	MYBPC3 (T688M)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 42586	NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu)	MYBPC3 (P645L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 42585	NM_000256.3(MYBPC3):c.1928-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +7 more	GPathogenic
Select item 161303	NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys)	MYBPC3 (E619K)	Single nucleotide variant (missense variant)	MYBPC3-related condition +7 more	GConflicting classifications of pathogenicity
Select item 42576	NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His)	MYBPC3 (D610H)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 42562	NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln)	MYBPC3 (R574Q)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 8608	NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	MYBPC3 (E542Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GPathogenic
Select item 42545	NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr)	MYBPC3 (A522T)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 42543	NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)	MYBPC3 (G507R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 42540	NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)	MYBPC3 (R502W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +8 more	GPathogenic/Likely pathogenic
Select item 520448	NM_000256.3(MYBPC3):c.1466A>T (p.Asp489Val)	MYBPC3 (D489V)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 36601	NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)	MYBPC3 (E441K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 42513	NM_000256.3(MYBPC3):c.1227-13G>A	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 181061	NM_000256.3(MYBPC3):c.1120C>T (p.Gln374Ter)	MYBPC3 (Q374*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +2 more	GPathogenic
Select item 42505	NM_000256.3(MYBPC3):c.1112C>G (p.Pro371Arg)	MYBPC3 (P371R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 177850	NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter)	MYBPC3 (E334*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic

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