"GeneDx"[submitter] AND "ACTN1"[gene] - ClinVar

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Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2501828	NM_001130004.2(ACTN1):c.2726A>G (p.Tyr909Cys)	ACTN1 (Y822C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326697	NM_001130004.2(ACTN1):c.2651C>T (p.Ala884Val)	ACTN1 (A857V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426733	NM_001130004.2(ACTN1):c.2612G>A (p.Arg871His)	ACTN1 (R871H +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1181648	NM_001130004.2(ACTN1):c.2587-172C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240537	NM_001130004.2(ACTN1):c.2587-178T>C	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257717	NM_001130004.2(ACTN1):c.2586+95C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 389235	NM_001130004.2(ACTN1):c.2473C>T (p.Arg825Cys)	ACTN1 (R825C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662744	NM_001130004.2(ACTN1):c.2444C>T (p.Ala815Val)	ACTN1 (A518V +19 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1270898	NM_001130004.2(ACTN1):c.2427+206C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267638	NM_001130004.2(ACTN1):c.2361+59G>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1698087	NM_001130004.2(ACTN1):c.2342A>G (p.Asp781Gly)	ACTN1 (D781G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1233114	NM_001130004.2(ACTN1):c.2280+253del	ACTN1	Deletion (intron variant)	not provided	GBenign
Select item 2579802	NM_001130004.2(ACTN1):c.2200C>A (p.Gln734Lys)	ACTN1 (Q459K +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306091	NM_001130004.2(ACTN1):c.2141G>A (p.Arg714His)	ACTN1 (R714H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1314568	NM_001130004.2(ACTN1):c.2140C>G (p.Arg714Gly)	ACTN1 (R714G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1233615	NM_001130004.2(ACTN1):c.2134-99G>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233933	NM_001130004.2(ACTN1):c.2028G>A (p.Lys676=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1247591	NM_001130004.2(ACTN1):c.1954-49G>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287740	NM_001130004.2(ACTN1):c.1954-246C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228294	NM_001130004.2(ACTN1):c.1953+324G>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288762	NM_001130004.2(ACTN1):c.1953+310G>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246745	NM_001130004.2(ACTN1):c.1953+251T>C	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266003	NM_001130004.2(ACTN1):c.1953+137T>C	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235981	NM_001130004.2(ACTN1):c.1953+121A>G	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221904	NM_001130004.2(ACTN1):c.1953+114G>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257444	NM_001130004.2(ACTN1):c.1818+62T>C	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3371450	NM_001130004.2(ACTN1):c.1780A>C (p.Thr594Pro)	ACTN1 (T319P +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1274233	NM_001130004.2(ACTN1):c.1636-286G>C	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225619	NM_001130004.2(ACTN1):c.1635+124C>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773042	NM_001130004.2(ACTN1):c.1410C>T (p.Pro470=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1271138	NM_001130004.2(ACTN1):c.1297C>T (p.Leu433=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2507345	NM_001130004.2(ACTN1):c.1197C>G (p.Phe399Leu)	ACTN1 (F334L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1230566	NM_001130004.2(ACTN1):c.1087-172C>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278779	NM_001130004.2(ACTN1):c.1087-262G>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297950	NM_001130004.2(ACTN1):c.1086+144C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 812968	NM_001130004.2(ACTN1):c.1019C>T (p.Thr340Met)	ACTN1 (T340M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810649	NM_001130004.2(ACTN1):c.1004A>C (p.Glu335Ala)	ACTN1 (E335A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364337	NM_001130004.2(ACTN1):c.947_955del (p.Phe316_Asp318del)	ACTN1	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 1261184	NM_001130004.2(ACTN1):c.856-197C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257237	NM_001130004.2(ACTN1):c.855+12_855+13insT	ACTN1	Insertion (intron variant)	not provided	GBenign
Select item 1294074	NM_001130004.2(ACTN1):c.855+12C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231211	NM_001130004.2(ACTN1):c.763-167A>G	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2505623	NM_001130004.2(ACTN1):c.716T>C (p.Met239Thr)	ACTN1 (M174T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137600	NM_001130004.2(ACTN1):c.682G>A (p.Val228Ile)	ACTN1 (V228I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1279154	NM_001130004.2(ACTN1):c.676+217A>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240810	NM_001130004.2(ACTN1):c.676+167G>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245279	NM_001130004.2(ACTN1):c.594+196C>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302149	NM_001130004.2(ACTN1):c.535T>C (p.Phe179Leu)	ACTN1 (F179L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1276093	NM_001130004.2(ACTN1):c.516-52G>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259997	NM_001130004.2(ACTN1):c.516-86T>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253725	NM_001130004.2(ACTN1):c.516-221A>G	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294078	NM_001130004.2(ACTN1):c.515+193T>C	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246776	NM_001130004.2(ACTN1):c.515+49C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250870	NM_001130004.2(ACTN1):c.515+14T>G	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272766	NM_001130004.2(ACTN1):c.428-16A>G	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257313	NM_001130004.2(ACTN1):c.428-51C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289343	NM_001130004.2(ACTN1):c.428-88A>G	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257371	NM_001130004.2(ACTN1):c.428-212C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278329	NM_001130004.2(ACTN1):c.428-224A>G	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290436	NM_001130004.2(ACTN1):c.427+175G>A	LOC130055955, ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238323	NM_001130004.2(ACTN1):c.427+158A>G	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226079	NM_001130004.2(ACTN1):c.427+10T>C	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2582163	NM_001130004.2(ACTN1):c.391A>G (p.Ile131Val)	ACTN1 (I108V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1294077	NM_001130004.2(ACTN1):c.341-94T>C	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295059	NM_001130004.2(ACTN1):c.220+217_220+218dup	ACTN1	Duplication (intron variant)	not provided	GBenign
Select item 1252144	NM_001130004.2(ACTN1):c.220+239del	ACTN1	Deletion (intron variant)	not provided	GBenign
Select item 1235003	NM_001130004.2(ACTN1):c.220+238_220+239del	ACTN1	Deletion (intron variant)	not provided	GBenign
Select item 1228907	NM_001130004.2(ACTN1):c.220+216T>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288985	NM_001130004.2(ACTN1):c.106-56C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179966	NM_001130004.2(ACTN1):c.105+284C>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269561	NM_001130004.2(ACTN1):c.105+23T>C	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268737	NM_001130004.2(ACTN1):c.105+18C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280201	NM_001130004.2(ACTN1):c.-105AGCCC[5]	ACTN1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1253662	NC_000014.9:g.68979396C>A	ACTN1	Single nucleotide variant	not provided	GBenign
Select item 3361965	NM_001130004.2(ACTN1):c.1968C>G (p.Ile656Met)	ACTN1 (I381M +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360535	NM_001130004.2(ACTN1):c.790A>T (p.Lys264Ter)	ACTN1 (K199* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance

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Items: 76