"GeneDx"[submitter] AND "ACTC1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 315653	NM_005159.4(ACTC1):c.*1682A>G	ACTC1, GJD2-DT	Single nucleotide variant	Hypertrophic cardiomyopathy 11 +2 more	GBenign
Select item 315654	NM_005159.4(ACTC1):c.*1674C>T	ACTC1, GJD2-DT	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 315693	NM_005159.4(ACTC1):c.*393G>T	ACTC1, GJD2-DT	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 315694	NM_005159.4(ACTC1):c.*388G>A	ACTC1, GJD2-DT	Single nucleotide variant	not provided +2 more	GBenign
Select item 1235031	NC_000015.10:g.34790111C>T	ACTC1, GJD2-DT	Single nucleotide variant	not provided	GBenign
Select item 315697	NM_005159.4(ACTC1):c.*269C>T	ACTC1, GJD2-DT	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 1282672	NC_000015.10:g.34790188C>T	ACTC1, GJD2-DT	Single nucleotide variant	not provided	GBenign
Select item 888205	NM_005159.4(ACTC1):c.*214G>A	ACTC1, GJD2-DT	Single nucleotide variant	Dilated cardiomyopathy 1R +2 more	GConflicting classifications of pathogenicity
Select item 885082	NM_005159.5(ACTC1):c.*137A>T	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 1264743	NM_005159.5(ACTC1):c.*116G>A	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 885999	NM_005159.5(ACTC1):c.*22C>T	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 1206677	NM_005159.5(ACTC1):c.*16C>T	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 381369	NM_005159.5(ACTC1):c.*5C>G	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 222483	NM_005159.5(ACTC1):c.1124A>G (p.Lys375Arg)	GJD2-DT, ACTC1 (K375R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 180774	NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr)	GJD2-DT, ACTC1 (I371T)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 377437	NM_005159.5(ACTC1):c.1098G>A (p.Glu366=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +5 more	GLikely benign
Select item 1171524	NM_005159.5(ACTC1):c.1093G>A (p.Asp365Asn)	ACTC1, GJD2-DT (D365N)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 45171	NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 452611	NM_005159.5(ACTC1):c.1090T>A (p.Tyr364Asn)	ACTC1, GJD2-DT (Y364N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +3 more	GUncertain significance
Select item 513570	NM_005159.5(ACTC1):c.1083G>A (p.Lys361=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 423456	NM_005159.5(ACTC1):c.1083G>T (p.Lys361Asn)	GJD2-DT, ACTC1 (K361N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1273569	NM_005159.5(ACTC1):c.1068A>G (p.Gln356=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 315702	NM_005159.5(ACTC1):c.1053G>C (p.Leu351=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 1275098	NM_005159.5(ACTC1):c.1050T>A (p.Ser350=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +3 more	GBenign/Likely benign
Select item 1310366	NM_005159.5(ACTC1):c.1021G>C (p.Val341Leu)	ACTC1, GJD2-DT (V341L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180773	NM_005159.5(ACTC1):c.998C>T (p.Ala333Val)	ACTC1, GJD2-DT (A333V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 674093	NM_005159.5(ACTC1):c.991-262C>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678007	NM_005159.5(ACTC1):c.990+236C>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671232	NM_005159.5(ACTC1):c.990+64C>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272947	NM_005159.5(ACTC1):c.990+6G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 180778	NM_005159.5(ACTC1):c.986T>C (p.Ile329Thr)	GJD2-DT, ACTC1 (I329T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 180771	NM_005159.5(ACTC1):c.968C>T (p.Ala323Val)	ACTC1, GJD2-DT (A323V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 2934988	NM_005159.5(ACTC1):c.962C>T (p.Ala321Val)	ACTC1, GJD2-DT (A174V +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +3 more	GUncertain significance
Select item 379262	NM_005159.5(ACTC1):c.954A>C (p.Glu318Asp)	ACTC1, GJD2-DT (E318D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180770	NM_005159.5(ACTC1):c.952G>A (p.Glu318Lys)	ACTC1, GJD2-DT (E318K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 18323	NM_005159.5(ACTC1):c.941G>A (p.Arg314His)	ACTC1, GJD2-DT (R314H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +4 more	GConflicting classifications of pathogenicity
Select item 1766875	NM_005159.5(ACTC1):c.940C>T (p.Arg314Cys)	ACTC1, GJD2-DT (R167C +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 487317	NM_005159.5(ACTC1):c.930T>C (p.Gly310=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +6 more	GConflicting classifications of pathogenicity
Select item 45194	NM_005159.5(ACTC1):c.927T>C (p.Pro309=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 373651	NM_005159.5(ACTC1):c.908G>T (p.Gly303Val)	ACTC1, GJD2-DT (G303V)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +3 more	GUncertain significance
Select item 45192	NM_005159.5(ACTC1):c.903A>G (p.Leu301=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	not specified +6 more	GLikely benign
Select item 3364608	NM_005159.5(ACTC1):c.889G>C (p.Ala297Pro)	ACTC1, GJD2-DT (A150P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180769	NM_005159.5(ACTC1):c.886T>C (p.Tyr296His)	GJD2-DT, ACTC1 (Y296H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 177886	NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr)	ACTC1, GJD2-DT (I289T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2444739	NM_005159.5(ACTC1):c.847A>C (p.Ser283Arg)	ACTC1, GJD2-DT (S136R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385329	NM_005159.5(ACTC1):c.840T>C (p.Thr280=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2575660	NM_005159.5(ACTC1):c.830A>G (p.His277Arg)	ACTC1, GJD2-DT (H130R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364889	NM_005159.5(ACTC1):c.817T>A (p.Ser273Thr)	ACTC1, GJD2-DT (S126T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180767	NM_005159.5(ACTC1):c.812T>C (p.Met271Thr)	ACTC1, GJD2-DT (M271T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 669963	NM_005159.5(ACTC1):c.809-8G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GLikely benign
Select item 315710	NM_005159.5(ACTC1):c.809-58TG[25]	GJD2-DT, ACTC1	Microsatellite (intron variant)	Atrial septal defect +9 more	GConflicting classifications of pathogenicity
Select item 315706	NM_005159.5(ACTC1):c.809-58TG[26]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Atrial septal defect +9 more	GConflicting classifications of pathogenicity
Select item 315705	NM_005159.5(ACTC1):c.809-58TG[24]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Atrial septal defect +9 more	GConflicting classifications of pathogenicity
Select item 136281	NM_005159.5(ACTC1):c.809-12A>G	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1R +3 more	GConflicting classifications of pathogenicity
Select item 929118	NM_005159.5(ACTC1):c.809-58TG[15]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Atrial septal defect 5 +4 more	GBenign/Likely benign
Select item 928599	NM_005159.5(ACTC1):c.809-58TG[14]	GJD2-DT, ACTC1	Microsatellite (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 315708	NM_005159.5(ACTC1):c.809-58TG[21]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Atrial septal defect +10 more	GConflicting classifications of pathogenicity
Select item 1292063	NM_005159.5(ACTC1):c.809-14T>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243873	NM_005159.5(ACTC1):c.809-67G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681195	NM_005159.5(ACTC1):c.809-304G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675627	NM_005159.5(ACTC1):c.808+185A>G	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675314	NM_005159.5(ACTC1):c.808+169G>A	GJD2-DT, ACTC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292062	NM_005159.5(ACTC1):c.808+76G>C	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 180766	NM_005159.5(ACTC1):c.808+1G>C	ACTC1, GJD2-DT	Single nucleotide variant (splice donor variant)	not provided +3 more	GUncertain significance
Select item 45190	NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr)	ACTC1, GJD2-DT (I269T)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 3364826	NM_005159.5(ACTC1):c.795G>T (p.Gln265His)	GJD2-DT, ACTC1 (Q118H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180765	NM_005159.5(ACTC1):c.769T>C (p.Phe257Leu)	ACTC1, GJD2-DT (F257L)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 180763	NM_005159.5(ACTC1):c.755T>C (p.Ile252Thr)	ACTC1, GJD2-DT (I252T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1191942	NM_005159.5(ACTC1):c.730C>A (p.Leu244Met)	ACTC1, GJD2-DT (L244M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +3 more	GUncertain significance
Select item 180762	NM_005159.5(ACTC1):c.700T>C (p.Ser234Pro)	ACTC1, GJD2-DT (S234P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180761	NM_005159.5(ACTC1):c.695C>T (p.Ala232Val)	ACTC1, GJD2-DT (A232V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 430202	NM_005159.5(ACTC1):c.694G>A (p.Ala232Thr)	ACTC1, GJD2-DT (A232T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 652722	NM_005159.5(ACTC1):c.687G>A (p.Met229Ile)	ACTC1, GJD2-DT (M229I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +4 more	GUncertain significance
Select item 1307279	NM_005159.5(ACTC1):c.664G>T (p.Ala222Ser)	ACTC1, GJD2-DT (A222S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 444338	NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr)	ACTC1, GJD2-DT (A222T)	Single nucleotide variant (missense variant)	ACTC1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 508728	NM_005159.5(ACTC1):c.663C>T (p.Val221=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 636820	NM_005159.5(ACTC1):c.658T>C (p.Tyr220His)	GJD2-DT, ACTC1 (Y220H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304717	NM_005159.5(ACTC1):c.656G>A (p.Cys219Tyr)	ACTC1, GJD2-DT (C219Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306876	NM_005159.5(ACTC1):c.635G>C (p.Arg212Pro)	ACTC1, GJD2-DT (R212P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45186	NM_005159.5(ACTC1):c.635G>A (p.Arg212His)	ACTC1, GJD2-DT (R212H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 509022	NM_005159.5(ACTC1):c.633C>A (p.Val211=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 520473	NM_005159.5(ACTC1):c.623G>A (p.Arg208His)	ACTC1, GJD2-DT (R208H)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +8 more	GUncertain significance
Select item 2574201	NM_005159.5(ACTC1):c.622C>A (p.Arg208Ser)	ACTC1, GJD2-DT (R163S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 179863	NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys)	ACTC1, GJD2-DT (R208C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +5 more	GUncertain significance
Select item 417998	NM_005159.5(ACTC1):c.616+5GT[4]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Hypertrophic cardiomyopathy 11 +4 more	GBenign/Likely benign
Select item 180255	NM_005159.5(ACTC1):c.602C>T (p.Ser201Phe)	ACTC1, GJD2-DT (S201F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314000	NM_005159.5(ACTC1):c.601T>C (p.Ser201Pro)	ACTC1, GJD2-DT (S201P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 180760	NM_005159.5(ACTC1):c.579G>T (p.Lys193Asn)	GJD2-DT, ACTC1 (K193N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 180759	NM_005159.5(ACTC1):c.563C>T (p.Thr188Ile)	ACTC1, GJD2-DT (T188I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1748233	NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)	ACTC1, GJD2-DT (R140Q +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2953352	NM_005159.5(ACTC1):c.541G>A (p.Asp181Asn)	ACTC1, GJD2-DT (D181N +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +3 more	GUncertain significance
Select item 180758	NM_005159.5(ACTC1):c.541G>C (p.Asp181His)	ACTC1, GJD2-DT (D181H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 925192	NM_005159.5(ACTC1):c.537T>C (p.Arg179=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GBenign/Likely benign
Select item 315711	NM_005159.5(ACTC1):c.537T>A (p.Arg179=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 566055	NM_005159.5(ACTC1):c.524A>C (p.His175Pro)	GJD2-DT, ACTC1 (H175P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 180754	NM_005159.5(ACTC1):c.523dup (p.His175fs)	ACTC1, GJD2-DT (H175fs)	Duplication (frameshift variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 1305594	NM_005159.5(ACTC1):c.521C>T (p.Pro174Leu)	ACTC1, GJD2-DT (P174L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45182	NM_005159.5(ACTC1):c.516T>C (p.Ala172=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +6 more	GLikely benign

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