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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1555653	NM_001101.5(ACTB):c.1122C>T (p.Cys374=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1919118	NM_001101.5(ACTB):c.1115G>A (p.Arg372His)	ACTB (R372H)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2842305	NM_001101.5(ACTB):c.1109T>G (p.Val370Gly)	ACTB (V370G)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 516170	NM_001101.5(ACTB):c.1107C>T (p.Ile369=)	ACTB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1939090	NM_001101.5(ACTB):c.1101C>G (p.Pro367=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 707530	NM_001101.5(ACTB):c.1095C>T (p.Ser365=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 3013715	NM_001101.5(ACTB):c.1094C>G (p.Ser365Cys)	ACTB (S365C)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 516169	NM_001101.5(ACTB):c.1089C>T (p.Asp363=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +2 more	GLikely benign
Select item 561721	NM_001101.5(ACTB):c.1078dup (p.Gln360fs)	ACTB (Q360fs)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2078369	NM_001101.5(ACTB):c.1074C>T (p.Ser358=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1078155	NM_001101.5(ACTB):c.1059G>A (p.Gln353=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2139009	NM_001101.5(ACTB):c.1056C>T (p.Phe352=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1157195	NM_001101.5(ACTB):c.1053C>T (p.Thr351=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2165699	NM_001101.5(ACTB):c.1047G>A (p.Leu349=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 381956	NM_001101.5(ACTB):c.1044G>A (p.Ser348=)	ACTB	Single nucleotide variant (synonymous variant)	Developmental malformations-deafness-dystonia syndrome +2 more	GBenign
Select item 1167827	NM_001101.5(ACTB):c.1041C>T (p.Ala347=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GBenign
Select item 1083765	NM_001101.5(ACTB):c.1026C>T (p.Gly342=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 128263	NM_001101.5(ACTB):c.1023C>T (p.Ile341=)	ACTB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 697397	NM_001101.5(ACTB):c.1017G>C (p.Val339=)	ACTB	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1107606	NM_001101.5(ACTB):c.1014C>T (p.Ser338=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +1 more	GLikely benign
Select item 534592	NM_001101.5(ACTB):c.1011C>T (p.Tyr337=)	ACTB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1044904	NM_001101.5(ACTB):c.1004G>C (p.Arg335Pro)	ACTB (R335P)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2875503	NM_001101.5(ACTB):c.996T>G (p.Pro332=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1127802	NM_001101.5(ACTB):c.985-5_985-3del	ACTB	Microsatellite (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
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 1396478	NM_001101.5(ACTB):c.985-7T>A	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2046943	NM_001101.5(ACTB):c.985-8C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1573918	NM_001101.5(ACTB):c.985-9C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GBenign
Select item 1636309	NM_001101.5(ACTB):c.985-10C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2916387	NM_001101.5(ACTB):c.985-13C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2072212	NM_001101.5(ACTB):c.985-15C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2180465	NM_001101.5(ACTB):c.985-16C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2174080	NM_001101.5(ACTB):c.984+19T>A	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1550860	NM_001101.5(ACTB):c.984+16G>C	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
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 1586775	NM_001101.5(ACTB):c.984+12dup	ACTB	Duplication (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 3011106	NM_001101.5(ACTB):c.984+10T>C	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2762096	NM_001101.5(ACTB):c.984+10T>A	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2741610	NM_001101.5(ACTB):c.984+9C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1518951	NM_001101.5(ACTB):c.984G>A (p.Lys328=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 3007687	NM_001101.5(ACTB):c.966C>T (p.Pro322=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2750509	NM_001101.5(ACTB):c.955G>A (p.Ala319Thr)	ACTB (A319T)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2177739	NM_001101.5(ACTB):c.955G>T (p.Ala319Ser)	ACTB (A319S)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 516229	NM_001101.5(ACTB):c.951C>T (p.Ile317=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +3 more	GBenign
Select item 2738336	NM_001101.5(ACTB):c.948G>A (p.Glu316=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 644089	NM_001101.5(ACTB):c.943_945del (p.Lys315del)	ACTB (K315del)	Deletion (inframe_deletion)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 128264	NM_001101.5(ACTB):c.942G>A (p.Gln314=)	ACTB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 498078	NM_001101.5(ACTB):c.930C>T (p.Ala310=)	ACTB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2796886	NM_001101.5(ACTB):c.925A>T (p.Ile309Phe)	ACTB (I309F)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 1369630	NM_001101.5(ACTB):c.924C>T (p.Gly308=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2078288	NM_001101.5(ACTB):c.903C>A (p.Gly301=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 466233	NM_001101.5(ACTB):c.903C>T (p.Gly301=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +1 more	GBenign/Likely benign
Select item 2157763	NM_001101.5(ACTB):c.900T>G (p.Ser300=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +1 more	GLikely benign
Select item 2717595	NM_001101.5(ACTB):c.891A>G (p.Thr297=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2191479	NM_001101.5(ACTB):c.890C>T (p.Thr297Ile)	ACTB (T297I)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2893461	NM_001101.5(ACTB):c.886A>G (p.Asn296Asp)	ACTB (N296D)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2882351	NM_001101.5(ACTB):c.885C>T (p.Ala295=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 466232	NM_001101.5(ACTB):c.882C>T (p.Tyr294=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +1 more	GLikely benign
Select item 2004243	NM_001101.5(ACTB):c.877C>T (p.Leu293=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1718305	NM_001101.5(ACTB):c.876C>A (p.Asp292Glu)	ACTB (D292E)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2919777	NM_001101.5(ACTB):c.873A>G (p.Lys291=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1641248	NM_001101.5(ACTB):c.864C>T (p.Asp288=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 701157	NM_001101.5(ACTB):c.858C>T (p.Asp286=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +2 more	GLikely benign
Select item 1114471	NM_001101.5(ACTB):c.834C>G (p.Thr278=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 771981	NM_001101.5(ACTB):c.834C>A (p.Thr278=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1385188	NM_001101.5(ACTB):c.828A>C (p.Glu276Asp)	ACTB (E276D)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 1564593	NM_001101.5(ACTB):c.825C>T (p.His275=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1145999	NM_001101.5(ACTB):c.822C>T (p.Ile274=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 699688	NM_001101.5(ACTB):c.822C>A (p.Ile274=)	ACTB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2159180	NM_001101.5(ACTB):c.819C>T (p.Gly273=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2714871	NM_001101.5(ACTB):c.813C>T (p.Ser271=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2714775	NM_001101.5(ACTB):c.813C>G (p.Ser271=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
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 2912215	NM_001101.5(ACTB):c.803-6T>G	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2918337	NM_001101.5(ACTB):c.803-7C>G	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 699353	NM_001101.5(ACTB):c.803-7C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1 +1 more	GLikely benign
Select item 1981445	NM_001101.5(ACTB):c.803-9C>G	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1092993	NM_001101.5(ACTB):c.803-9C>T	ACTB	Single nucleotide variant (intron variant)	ACTB-related condition +1 more	GLikely benign
Select item 2041679	NM_001101.5(ACTB):c.803-13A>G	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1639285	NM_001101.5(ACTB):c.803-14C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 3020477	NM_001101.5(ACTB):c.803-16C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2181057	NM_001101.5(ACTB):c.803-17C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1458655	NM_001101.5(ACTB):c.803-18C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2017604	NM_001101.5(ACTB):c.803-20T>A	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1561725	NM_001101.5(ACTB):c.802+15_802+22del	ACTB	Deletion (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2738136	NM_001101.5(ACTB):c.802+13_802+19dup	ACTB	Duplication (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1562587	NM_001101.5(ACTB):c.802+20C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2808380	NM_001101.5(ACTB):c.802+17dup	ACTB	Duplication (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2181455	NM_001101.5(ACTB):c.802+18C>A	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2061048	NM_001101.5(ACTB):c.802+18C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2726165	NM_001101.5(ACTB):c.802+12C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2079729	NM_001101.5(ACTB):c.802+10G>C	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2009504	NM_001101.5(ACTB):c.802+10G>A	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1993447	NM_001101.5(ACTB):c.802+6dup	ACTB	Duplication (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1507775	NM_001101.5(ACTB):c.801G>T (p.Leu267=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2060208	NM_001101.5(ACTB):c.799C>T (p.Leu267=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2721207	NM_001101.5(ACTB):c.798C>T (p.Phe266=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2095576	NM_001101.5(ACTB):c.787del (p.Gln263fs)	ACTB (Q263fs)	Deletion (frameshift variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 1153800	NM_001101.5(ACTB):c.786C>T (p.Phe262=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1657023	NM_001101.5(ACTB):c.783C>A (p.Leu261=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign

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