"GeneDx"[submitter] AND "ACTN4"[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1190450	NC_000019.10:g.38647490G>C	ACTN4, LOC130064360	Single nucleotide variant	not provided	GLikely benign
Select item 1188589	NC_000019.10:g.38647509C>T	ACTN4, LOC130064360	Single nucleotide variant	not provided	GLikely benign
Select item 1214446	NC_000019.10:g.38647524A>C	ACTN4, LOC130064360	Single nucleotide variant	not provided	GLikely benign
Select item 1706702	NM_004924.6(ACTN4):c.162+33G>A	ACTN4, LOC130064361	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269337	NM_004924.6(ACTN4):c.162+61T>C	ACTN4, LOC130064361	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +2 more	GBenign
Select item 1209060	NM_004924.6(ACTN4):c.163-189C>T	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259575	NM_004924.6(ACTN4):c.246C>T (p.Leu82=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1259827	NM_004924.6(ACTN4):c.277+29G>C	ACTN4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1280340	NM_004924.6(ACTN4):c.278-98G>A	ACTN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 259578	NM_004924.6(ACTN4):c.369C>T (p.Gly123=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +3 more	GBenign/Likely benign
Select item 1286675	NM_004924.6(ACTN4):c.398-271_398-268del	ACTN4	Deletion (intron variant)	not provided	GBenign
Select item 1250934	NM_004924.6(ACTN4):c.398-260T>G	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259579	NM_004924.6(ACTN4):c.398-16C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +2 more	GBenign
Select item 1216826	NM_004924.6(ACTN4):c.484+25G>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191708	NM_004924.6(ACTN4):c.484+75C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign/Likely benign
Select item 1216313	NM_004924.6(ACTN4):c.484+135G>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266299	NM_004924.6(ACTN4):c.485-153C>T	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259580	NM_004924.6(ACTN4):c.536C>T (p.Pro179Leu)	ACTN4 (P179L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 259581	NM_004924.6(ACTN4):c.537G>A (p.Pro179=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +2 more	GBenign
Select item 259582	NM_004924.6(ACTN4):c.546C>T (p.Asn182=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 420801	NM_004924.6(ACTN4):c.573_575del (p.Ser191_Trp192delinsArg)	ACTN4	Deletion (splice acceptor variant)	not specified	GUncertain significance
Select item 1193620	NM_004924.6(ACTN4):c.652-286del	ACTN4	Deletion (intron variant)	not provided	GLikely benign
Select item 1221578	NM_004924.6(ACTN4):c.652-199G>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186479	NM_004924.6(ACTN4):c.652-162C>G	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288878	NM_004924.6(ACTN4):c.652-55G>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign
Select item 1271640	NM_004924.6(ACTN4):c.652-37G>A	ACTN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1227576	NM_004924.6(ACTN4):c.652-34G>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign
Select item 427769	NM_004924.6(ACTN4):c.719T>C (p.Met240Thr)	ACTN4 (M240T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1228667	NM_004924.6(ACTN4):c.734-54C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign
Select item 392912	NM_004924.6(ACTN4):c.738C>G (p.Ile246Met)	ACTN4 (I246M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1214974	NM_004924.6(ACTN4):c.819+41C>T	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250787	NM_004924.6(ACTN4):c.819+292C>G	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268068	NM_004924.6(ACTN4):c.820-264C>T	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183475	NM_004924.6(ACTN4):c.820-263G>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218981	NM_004924.6(ACTN4):c.820-198G>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246417	NM_004924.6(ACTN4):c.820-148G>T	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268256	NM_004924.6(ACTN4):c.820-128T>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182437	NM_004924.6(ACTN4):c.820-94C>T	ACTN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1706782	NM_004924.6(ACTN4):c.912+153C>T	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293784	NM_004924.6(ACTN4):c.913-227_913-226del	ACTN4	Deletion (intron variant)	not provided	GBenign
Select item 1207996	NM_004924.6(ACTN4):c.913-144G>C	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259583	NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln)	ACTN4 (R310Q)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 259584	NM_004924.6(ACTN4):c.978G>A (p.Gln326=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1193924	NM_004924.6(ACTN4):c.1143+257G>C	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3368793	NM_004924.6(ACTN4):c.1174C>T (p.Gln392Ter)	ACTN4 (Q392*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 710144	NM_004924.6(ACTN4):c.1218C>A (p.Arg406=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +2 more	GBenign/Likely benign
Select item 599123	NM_004924.6(ACTN4):c.1279G>A (p.Ala427Thr)	ACTN4 (A427T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +2 more	GConflicting classifications of pathogenicity
Select item 1237308	NM_004924.6(ACTN4):c.1291+81C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign
Select item 1293785	NM_004924.6(ACTN4):c.1292-126T>C	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327185	NM_004924.6(ACTN4):c.1338A>C (p.Leu446=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1261328	NM_004924.6(ACTN4):c.1442+64C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +2 more	GBenign
Select item 1185898	NM_004924.6(ACTN4):c.1442+65G>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248068	NM_004924.6(ACTN4):c.1442+72C>T	ACTN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 808577	NM_004924.6(ACTN4):c.1443-4G>A	ACTN4	Single nucleotide variant (intron variant)	Kidney disorder +1 more	GConflicting classifications of pathogenicity
Select item 1312423	NM_004924.6(ACTN4):c.1535G>T (p.Arg512Leu)	ACTN4 (R512L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1288503	NM_004924.6(ACTN4):c.1551+49C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign
Select item 259567	NM_004924.6(ACTN4):c.1608C>T (p.Arg536=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +3 more	GBenign/Likely benign
Select item 259568	NM_004924.6(ACTN4):c.1611G>A (p.Ala537=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +3 more	GBenign/Likely benign
Select item 1308814	NM_004924.6(ACTN4):c.1923G>C (p.Gln641His)	ACTN4 (Q641H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259571	NM_004924.6(ACTN4):c.1977T>C (p.Asn659=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +2 more	GBenign
Select item 259572	NM_004924.6(ACTN4):c.1998G>A (p.Gln666=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +3 more	GBenign/Likely benign
Select item 1183403	NM_004924.6(ACTN4):c.2010+128C>T	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281798	NM_004924.6(ACTN4):c.2011-173G>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246854	NM_004924.6(ACTN4):c.2011-161T>C	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 585360	NM_004924.6(ACTN4):c.2016C>T (p.Ile672=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign/Likely benign
Select item 1207056	NM_004924.6(ACTN4):c.2190+246A>G	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205254	NM_004924.6(ACTN4):c.2190+306G>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276880	NM_004924.6(ACTN4):c.2191-90G>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170555	NM_004924.6(ACTN4):c.2191-5C>T	ACTN4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1256728	NM_004924.6(ACTN4):c.2338-192A>G	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239589	NM_004924.6(ACTN4):c.2338-191A>C	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259574	NM_004924.6(ACTN4):c.2401G>A (p.Val801Met)	ACTN4 (V801M)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 1 +3 more	GBenign/Likely benign
Select item 1250001	NM_004924.6(ACTN4):c.2418+28A>G	ACTN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1246606	NM_004924.6(ACTN4):c.2419-76G>T	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259576	NM_004924.6(ACTN4):c.2563T>C (p.Leu855=)	ACTN4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 383178	NM_004924.6(ACTN4):c.2641G>A (p.Ala881Thr)	ACTN4 (A881T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 259577	NM_004924.6(ACTN4):c.2670C>A (p.Asp890Glu)	ACTN4 (D890E +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +3 more	GBenign
Select item 994767	NM_004924.6(ACTN4):c.2680G>A (p.Gly894Ser)	ACTN4 (G889S +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GConflicting classifications of pathogenicity
Select item 1275240	NM_144691.4(CAPN12):c.*197T>C	ACTN4, CAPN12	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1261296	NM_144691.4(CAPN12):c.2134-6C>T	ACTN4, CAPN12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1293786	NM_144691.4(CAPN12):c.2074+22_2074+31del	ACTN4, CAPN12	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1293783	NM_144691.4(CAPN12):c.1958-84T>A	ACTN4, CAPN12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

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Items: 83