C3661900[trait identifier] AND "Center for Human Genetics, University - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 242003	NM_170707.4(LMNA):c.1517A>C (p.His506Pro)	LMNA (H506P +2 more)	Single nucleotide variant (missense variant)	not provided +20 more	GUncertain significance
Select item 66860	NM_170707.4(LMNA):c.1622G>A (p.Arg541His)	LMNA (R541H +2 more)	Single nucleotide variant (missense variant +1 more)	Hutchinson-Gilford syndrome +7 more	GPathogenic/Likely pathogenic
Select item 43676	NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys)	TNNT2 (R286C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 619282	NM_001276345.2(TNNT2):c.884G>A (p.Gly295Glu)	TNNT2 (G285E +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 12411	NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)	TNNT2 (R278C +5 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 43627	NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)	TNNT2 (R102W +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +7 more	GPathogenic
Select item 43928	NM_001103.4(ACTN2):c.2386C>T (p.Arg796Cys)	ACTN2 (R796C +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 427953	NM_001035.3(RYR2):c.1392C>A (p.His464Gln)	RYR2 (H464Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 201225	NM_001035.3(RYR2):c.1973A>G (p.Asn658Ser)	RYR2 (N658S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GUncertain significance
Select item 532370	NM_001035.3(RYR2):c.2573C>T (p.Thr858Met)	RYR2 (T858M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +7 more	GConflicting classifications of pathogenicity
Select item 201243	NM_001035.3(RYR2):c.4010A>G (p.Tyr1337Cys)	LOC126806067, RYR2 (Y1337C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 30381	NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)	SIX3 (G37C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 374145	NM_001267550.2(TTN):c.103360del (p.Glu34454fs)	TTN, TTN-AS1 (E25514fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype +12 more	GConflicting classifications of pathogenicity
Select item 47599	NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)	TTN, TTN-AS1 (R23702fs +4 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 223353	NM_001267550.2(TTN):c.91715dup (p.Asn30572fs)	TTN, TTN-AS1 (N28004fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GConflicting classifications of pathogenicity
Select item 451748	NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter)	TTN, TTN-AS1 (E28483* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GPathogenic/Likely pathogenic
Select item 223288	NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter)	TTN, TTN-AS1 (R20311* +5 more)	Single nucleotide variant (nonsense)	Cardiomyopathy +5 more	GLikely pathogenic
Select item 1299910	NM_001267550.2(TTN):c.52334_52335del (p.Val17445fs)	TTN, TTN-AS1 (V14877fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 202384	NM_001267550.2(TTN):c.51436+1G>A	TTN-AS1, TTN	Single nucleotide variant (splice donor variant)	Primary dilated cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 656793	NM_001267550.2(TTN):c.11444del (p.Lys3815fs)	TTN (K3452fs +4 more)	Deletion (frameshift variant +1 more)	Primary dilated cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 66402	NM_001927.4(DES):c.1360C>T (p.Arg454Trp)	DES (R454W)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 216841	NM_000335.5(SCN5A):c.5846A>G (p.Tyr1949Cys)	SCN5A (Y1949C +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 48309	NM_000335.5(SCN5A):c.5537G>A (p.Arg1846His)	SCN5A (R1846H +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 31780	NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)	MYL3 (A57G)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 181567	NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp)	TNNC1 (N144D)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 915456	NM_005573.4(LMNB1):c.124C>T (p.Arg42Trp)	LMNB1 (R42W)	Single nucleotide variant (missense variant +2 more)	Microcephaly 26, primary, autosomal dominant +1 more	GPathogenic
Select item 574272	NM_001458.5(FLNC):c.3499C>T (p.Arg1167Cys)	FLNC (R1167C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +6 more	GUncertain significance
Select item 620373	NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)	FLNC (R1341*)	Single nucleotide variant (nonsense)	FLNC-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 619271	NM_001458.5(FLNC):c.4708G>T (p.Gly1570Cys)	FLNC (G1570C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 472101	NM_001458.5(FLNC):c.5296T>C (p.Trp1766Arg)	FLNC (W1766R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 200473	NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu)	KCNH2 (P529L +1 more)	Single nucleotide variant (missense variant)	not provided +6 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 12198	NM_014000.3(VCL):c.829C>A (p.Leu277Met)	VCL (L277M)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 166551	NM_014000.3(VCL):c.2046A>T (p.Leu682Phe)	VCL (L682F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +7 more	GConflicting classifications of pathogenicity
Select item 201857	NM_007078.3(LDB3):c.91C>T (p.Arg31Trp)	LDB3 (R31W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 3135	NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)	KCNQ1	Single nucleotide variant (synonymous variant)	Beckwith-Wiedemann syndrome +6 more	GPathogenic
Select item 427960	NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser)	KCNQ1, KCNQ1-AS1 (G502S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GUncertain significance
Select item 163009	NM_003476.5(CSRP3):c.437G>A (p.Arg146His)	CSRP3 (R146H +1 more)	Single nucleotide variant (missense variant)	Prolonged QT interval +5 more	GUncertain significance
Select item 8778	NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)	CSRP3 (L44P)	Single nucleotide variant (missense variant +1 more)	See cases +6 more	GConflicting classifications of pathogenicity
Select item 180415	NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His)	MYBPC3 (R1267H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 42735	NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	MYBPC3 (Q1233*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 181102	NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)	MYBPC3 (Y1136del)	Microsatellite (inframe_deletion)	Brugada syndrome +8 more	GConflicting classifications of pathogenicity
Select item 454326	NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys)	MYBPC3 (R1120C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GUncertain significance
Select item 181100	NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs)	MYBPC3	Duplication (frameshift variant)	Cardiomyopathy +3 more	GPathogenic
Select item 8616	NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)	MYBPC3 (E1096*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +5 more	GPathogenic/Likely pathogenic
Select item 42663	NC_000011.10:g.47335082_47335083del	MYBPC3	Deletion	Primary familial hypertrophic cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 37039	NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)	MYBPC3 (R943*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic
Select item 427958	NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)	MYBPC3 (S928L)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 619256	NM_000256.3(MYBPC3):c.2737+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy	GPathogenic/Likely pathogenic
Select item 407320	NM_000256.3(MYBPC3):c.2683C>T (p.Arg895Cys)	MYBPC3 (R895C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 181083	NM_000256.3(MYBPC3):c.2610del (p.Ser871fs)	MYBPC3	Deletion (frameshift variant)	Cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 177700	NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)	MYBPC3 (K814del)	Microsatellite (inframe_deletion)	not specified +6 more	GUncertain significance
Select item 42619	NC_000011.10:g.47337730dup	MYBPC3 (W792fs)	Duplication	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 42605	NM_000256.3(MYBPC3):c.2182G>T (p.Glu728Ter)	MYBPC3 (E728*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 42585	NM_000256.3(MYBPC3):c.1928-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Primary familial hypertrophic cardiomyopathy +7 more	GPathogenic
Select item 180955	NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)	MYBPC3 (E611K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 164098	NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)	MYBPC3 (R597Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 42533	NM_000256.3(MYBPC3):c.1458-6G>A	MYBPC3	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 254153	NM_000256.3(MYBPC3):c.1404delG	MYBPC3	Deletion	Hypertrophic cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 42806	NM_000256.3(MYBPC3):c.927-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Primary familial hypertrophic cardiomyopathy +5 more	GPathogenic
Select item 42801	NM_000256.3(MYBPC3):c.913_914delTT	MYBPC3	Deletion	Primary familial hypertrophic cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 181052	NM_000256.3(MYBPC3):c.841C>T (p.Arg281Trp)	MYBPC3 (R281W)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 42798	NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala)	MYBPC3 (G279A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 42796	NM_000256.3(MYBPC3):c.821+5G>A	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 228869	NM_000256.3(MYBPC3):c.821+3G>T	MYBPC3	Single nucleotide variant (intron variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 161312	NM_000256.3(MYBPC3):c.818G>A (p.Arg273His)	MYBPC3 (R273H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GUncertain significance
Select item 188532	NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs)	MYBPC3	Duplication	Hypertrophic cardiomyopathy 4 +1 more	GPathogenic
Select item 42775	NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)	MYBPC3 (Q208H)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 164151	NM_000256.3(MYBPC3):c.505+5G>C	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GLikely pathogenic
Select item 619248	NM_000256.3(MYBPC3):c.313del (p.Ala105fs)	MYBPC3 (A105fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GPathogenic
Select item 161313	NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn)	MYBPC3 (D75N)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 14065	NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)	MYL2, LOC114827850 (E22K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 178868	NM_002471.4(MYH6):c.5072G>A (p.Arg1691His)	LOC126861896, MYH6 (R1691H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +8 more	GUncertain significance
Select item 164221	NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp)	MYH6 (A1443D)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 470525	NM_002471.4(MYH6):c.3476C>T (p.Thr1159Met)	MYH6 (T1159M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +7 more	GUncertain significance
Select item 470519	NM_002471.4(MYH6):c.2827C>T (p.Arg943Cys)	MYH6 (R943C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +7 more	GUncertain significance
Select item 427959	NM_000257.4(MYH7):c.5471A>G (p.Asn1824Ser)	MYH7 (N1824S)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 177846	NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)	LOC126861897, MYH7 (A1763T)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 177788	NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)	MYH7 (R1382Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 42958	NM_000257.4(MYH7):c.3637G>A (p.Val1213Met)	MYH7 (V1213M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 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 181202	NM_000257.4(MYH7):c.2707G>A (p.Glu903Lys)	MYH7 (E903K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 164324	NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	LOC126861898, MYH7 (R858C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +10 more	GPathogenic/Likely pathogenic
Select item 265252	NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu)	LOC126861898, MYH7 (D778E)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 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 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)	Primary familial hypertrophic cardiomyopathy +9 more	GPathogenic/Likely pathogenic
Select item 177623	NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser)	MYH7 (N479S)	Single nucleotide variant (missense variant)	MYH7-related disorder +3 more	GPathogenic/Likely pathogenic
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 181343	NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser)	MYH7 (N444S)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 177897	NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)	MYH7 (R442C)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
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 181170	NM_000257.4(MYH7):c.1128C>A (p.Asp376Glu)	MYH7 (D376E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 43117	NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)	MYH7 (A326P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +10 more	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 14088	NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	MYH7 (R249Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +9 more	GPathogenic/Likely pathogenic

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