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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 58507	GRCh38/hg38 7p22.1(chr7:5117519-5880375)x1	ACTB, FBXL18 +69 more	Copy number loss	See cases	GPathogenic
Select item 151554	GRCh38/hg38 7p22.1(chr7:5171797-5635439)x3	ACTB, FBXL18 +52 more	Copy number gain	See cases	GUncertain significance
Select item 58511	GRCh38/hg38 7p22.1(chr7:5497215-5531287)x1	ACTB, FBXL18 +10 more	Copy number loss	See cases	GPathogenic
Select item 1218686	NM_001101.5(ACTB):c.*280G>A	ACTB	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1260131	NM_001101.5(ACTB):c.*267G>A	ACTB	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1185839	NM_001101.5(ACTB):c.*260G>A	ACTB	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1249295	NM_001101.5(ACTB):c.*125G>T	ACTB	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1245930	NM_001101.5(ACTB):c.*124dup	ACTB	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1272390	NM_001101.5(ACTB):c.*124del	ACTB	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1213113	NM_001101.5(ACTB):c.*96dup	ACTB	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 1706977	NM_001101.5(ACTB):c.1125C>T (p.Phe375=)	ACTB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2580466	NM_001101.5(ACTB):c.1121G>A (p.Cys374Tyr)	ACTB (C374Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 516170	NM_001101.5(ACTB):c.1107C>T (p.Ile369=)	ACTB	Single nucleotide variant (synonymous variant)	Developmental malformations-deafness-dystonia syndrome +2 more	GBenign/Likely benign
Select item 373015	NM_001101.5(ACTB):c.1092_1105dup (p.Ile369fs)	ACTB (I369fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 516169	NM_001101.5(ACTB):c.1089C>T (p.Asp363=)	ACTB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2443462	NM_001101.5(ACTB):c.1085A>G (p.Tyr362Cys)	ACTB (Y362C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 561721	NM_001101.5(ACTB):c.1078dup (p.Gln360fs)	ACTB (Q360fs)	Duplication (frameshift variant)	Baraitser-Winter syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1177327	NM_001101.5(ACTB):c.1066T>C (p.Trp356Arg)	ACTB (W356R)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1200439	NM_001101.5(ACTB):c.1045C>G (p.Leu349Val)	ACTB (L349V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 381956	NM_001101.5(ACTB):c.1044G>A (p.Ser348=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +2 more	GBenign
Select item 279997	NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu)	ACTB (S348L)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 393092	NM_001101.5(ACTB):c.1028G>A (p.Gly343Asp)	ACTB (G343D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128263	NM_001101.5(ACTB):c.1023C>T (p.Ile341=)	ACTB	Single nucleotide variant (synonymous variant)	Developmental malformations-deafness-dystonia syndrome +2 more	GBenign
Select item 279990	NM_001101.5(ACTB):c.1021A>C (p.Ile341Leu)	ACTB (I341L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372965	NM_001101.5(ACTB):c.1020G>C (p.Trp340Cys)	ACTB (W340C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 280619	NM_001101.5(ACTB):c.1020G>T (p.Trp340Cys)	ACTB (W340C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 697397	NM_001101.5(ACTB):c.1017G>C (p.Val339=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +2 more	GBenign
Select item 534592	NM_001101.5(ACTB):c.1011C>T (p.Tyr337=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +1 more	GLikely benign
Select item 3369117	NM_001101.5(ACTB):c.1004G>A (p.Arg335His)	ACTB (R335H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1800651	NM_001101.5(ACTB):c.985-43_993dup	ACTB	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 383008	NM_001101.5(ACTB):c.985-6C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1 +3 more	GBenign
Select item 1222366	NM_001101.5(ACTB):c.985-38A>G	ACTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561391	NM_001101.5(ACTB):c.984+39G>A	ACTB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1242471	NM_001101.5(ACTB):c.984+15T>C	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1 +2 more	GBenign/Likely benign
Select item 516229	NM_001101.5(ACTB):c.951C>T (p.Ile317=)	ACTB	Single nucleotide variant (synonymous variant)	Developmental malformations-deafness-dystonia syndrome +2 more	GBenign
Select item 1310154	NM_001101.5(ACTB):c.946_948del (p.Glu316del)	ACTB (E316del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 128264	NM_001101.5(ACTB):c.942G>A (p.Gln314=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +2 more	GBenign
Select item 3338764	NM_001101.5(ACTB):c.931G>A (p.Asp311Asn)	ACTB (D311N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309165	NM_001101.5(ACTB):c.914T>C (p.Met305Thr)	ACTB (M305T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574241	NM_001101.5(ACTB):c.905G>C (p.Gly302Ala)	ACTB (G302A)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3365363	NM_001101.5(ACTB):c.892G>A (p.Val298Met)	ACTB (V298M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432794	NM_001101.5(ACTB):c.890_891del (p.Thr297fs)	ACTB (T297fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 372616	NM_001101.5(ACTB):c.868C>T (p.Arg290Cys)	ACTB (R290C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 701157	NM_001101.5(ACTB):c.858C>T (p.Asp286=)	ACTB	Single nucleotide variant (synonymous variant)	Developmental malformations-deafness-dystonia syndrome +2 more	GLikely benign
Select item 449190	NM_001101.5(ACTB):c.826G>A (p.Glu276Lys)	ACTB (E276K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2578165	NM_001101.5(ACTB):c.825C>G (p.His275Gln)	ACTB (H275Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 699688	NM_001101.5(ACTB):c.822C>A (p.Ile274=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +2 more	GBenign/Likely benign
Select item 1305456	NM_001101.5(ACTB):c.810G>C (p.Glu270Asp)	ACTB (E270D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216440	NM_001101.5(ACTB):c.804C>T (p.Gly268=)	ACTB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1238470	NM_001101.5(ACTB):c.803-26A>C	ACTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286535	NM_001101.5(ACTB):c.803-37C>T	ACTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252611	NM_001101.5(ACTB):c.803-38G>A	ACTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3378018	NM_001101.5(ACTB):c.791C>A (p.Pro264His)	ACTB (P264H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 389760	NM_001101.5(ACTB):c.783C>G (p.Leu261=)	ACTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 516168	NM_001101.5(ACTB):c.774T>C (p.Pro258=)	ACTB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1699807	NM_001101.5(ACTB):c.770G>A (p.Cys257Tyr)	ACTB (C257Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 387743	NM_001101.5(ACTB):c.762G>C (p.Arg254=)	ACTB	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 3372234	NM_001101.5(ACTB):c.755A>G (p.Asn252Ser)	ACTB (N252S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308773	NM_001101.5(ACTB):c.754A>G (p.Asn252Asp)	ACTB (N252D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708686	NM_001101.5(ACTB):c.739G>T (p.Val247Phe)	ACTB (V247F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 695586	NM_001101.5(ACTB):c.732C>T (p.Asp244=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +1 more	GLikely benign
Select item 1698347	NM_001101.5(ACTB):c.721G>A (p.Glu241Lys)	ACTB (E241K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 696892	NM_001101.5(ACTB):c.720C>T (p.Tyr240=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +1 more	GLikely benign
Select item 1274877	NM_001101.5(ACTB):c.702C>T (p.Ser234=)	ACTB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 696040	NM_001101.5(ACTB):c.687G>A (p.Thr229=)	ACTB	Single nucleotide variant (synonymous variant)	Developmental malformations-deafness-dystonia syndrome +2 more	GBenign/Likely benign
Select item 1310267	NM_001101.5(ACTB):c.673C>G (p.Gln225Glu)	ACTB (Q225E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340361	NM_001101.5(ACTB):c.670G>C (p.Glu224Gln)	ACTB (E224Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343538	NM_001101.5(ACTB):c.668T>C (p.Phe223Ser)	ACTB (F223S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218368	NM_001101.5(ACTB):c.657C>T (p.Val219=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +1 more	GLikely benign
Select item 511115	NM_001101.5(ACTB):c.645G>A (p.Lys215=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +2 more	GLikely benign
Select item 1269505	NM_001101.5(ACTB):c.642G>A (p.Glu214=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +2 more	GBenign/Likely benign
Select item 1700883	NM_001101.5(ACTB):c.634A>G (p.Ile212Val)	ACTB (I212V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418804	NM_001101.5(ACTB):c.629G>A (p.Arg210His)	ACTB (R210H)	Single nucleotide variant (missense variant)	ACTB-related BAFopathy +2 more	GPathogenic/Likely pathogenic
Select item 127172	NM_001101.5(ACTB):c.625G>A (p.Val209Met)	ACTB (V209M)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 265318	NM_001101.5(ACTB):c.617G>A (p.Arg206Gln)	ACTB (R206Q)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 860924	NM_001101.5(ACTB):c.616C>T (p.Arg206Trp)	ACTB (R206W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 372914	NM_001101.5(ACTB):c.616C>G (p.Arg206Gly)	ACTB (R206G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 696765	NM_001101.5(ACTB):c.609G>C (p.Thr203=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +2 more	GBenign/Likely benign
Select item 279938	NM_001101.5(ACTB):c.597C>G (p.Ser199Arg)	ACTB (S199R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 522017	NM_001101.5(ACTB):c.589G>A (p.Gly197Ser)	ACTB (G197S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 29599	NM_001101.5(ACTB):c.587G>A (p.Arg196His)	ACTB (R196H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 1193058	NM_001101.5(ACTB):c.586C>G (p.Arg196Gly)	ACTB (R196G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 29600	NM_001101.5(ACTB):c.586C>T (p.Arg196Cys)	ACTB (R196C)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1 +1 more	GPathogenic
Select item 3368521	NM_001101.5(ACTB):c.580A>G (p.Thr194Ala)	ACTB (T194A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 279937	NM_001101.5(ACTB):c.559_562del (p.Asp187fs)	ACTB (D187fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 426872	NM_001101.5(ACTB):c.561C>G (p.Asp187Glu)	ACTB (D187E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580833	NM_001101.5(ACTB):c.553C>G (p.Leu185Val)	ACTB (L185V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676923	NM_001101.5(ACTB):c.548G>A (p.Arg183Gln)	ACTB (R183Q)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 18275	NM_001101.5(ACTB):c.547C>T (p.Arg183Trp)	ACTB (R183W)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1 +4 more	GPathogenic
Select item 423458	NM_001101.5(ACTB):c.535G>C (p.Asp179His)	ACTB (D179H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389497	NM_001101.5(ACTB):c.526C>T (p.Leu176=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +1 more	GLikely benign
Select item 2159436	NM_001101.5(ACTB):c.511C>T (p.Leu171Phe)	ACTB (L171F)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 561747	NM_001101.5(ACTB):c.495C>G (p.Ile165Met)	ACTB (I165M)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1202044	NM_001101.5(ACTB):c.484A>G (p.Thr162Ala)	ACTB (T162A)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 372917	NM_001101.5(ACTB):c.479C>T (p.Thr160Ile)	ACTB (T160I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 387382	NM_001101.5(ACTB):c.474G>A (p.Gly158=)	ACTB	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 698838	NM_001101.5(ACTB):c.453C>T (p.Ile151=)	ACTB	Single nucleotide variant (synonymous variant)	Developmental malformations-deafness-dystonia syndrome +2 more	GBenign/Likely benign
Select item 1306168	NM_001101.5(ACTB):c.432C>T (p.Ala144=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +1 more	GConflicting classifications of pathogenicity

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