"PreventionGenetics, part of Exact Sciences"[submitter] AND "ACTB"[gen - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 516169	NM_001101.5(ACTB):c.1089C>T (p.Asp363=)	ACTB	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 3028959	NM_001101.5(ACTB):c.1010dup (p.Tyr337Ter)	ACTB (Y337*)	Duplication (nonsense +1 more)	ACTB-related disorder	GLikely pathogenic
Select item 516229	NM_001101.5(ACTB):c.951C>T (p.Ile317=)	ACTB	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2157763	NM_001101.5(ACTB):c.900T>G (p.Ser300=)	ACTB	Single nucleotide variant (synonymous variant)	ACTB-related disorder +1 more	GLikely benign
Select item 1092993	NM_001101.5(ACTB):c.803-9C>T	ACTB	Single nucleotide variant (intron variant)	ACTB-related disorder +1 more	GLikely benign
Select item 387743	NM_001101.5(ACTB):c.762G>C (p.Arg254=)	ACTB	Single nucleotide variant (synonymous variant)	Developmental malformations-deafness-dystonia syndrome +4 more	GBenign/Likely benign
Select item 695586	NM_001101.5(ACTB):c.732C>T (p.Asp244=)	ACTB	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3061510	NM_001101.5(ACTB):c.666C>G (p.Asp222Glu)	ACTB (D222E)	Single nucleotide variant (missense variant)	ACTB-related disorder	GUncertain significance
Select item 1269505	NM_001101.5(ACTB):c.642G>A (p.Glu214=)	ACTB	Single nucleotide variant (synonymous variant)	ACTB-related disorder +3 more	GBenign/Likely benign
Select item 696765	NM_001101.5(ACTB):c.609G>C (p.Thr203=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +3 more	GBenign/Likely benign
Select item 699879	NM_001101.5(ACTB):c.582C>T (p.Thr194=)	ACTB	Single nucleotide variant (synonymous variant)	ACTB-related disorder +1 more	GLikely benign
Select item 3032321	NM_001101.5(ACTB):c.532C>T (p.Leu178=)	ACTB	Single nucleotide variant (synonymous variant)	ACTB-related disorder	GLikely benign
Select item 2730606	NM_001101.5(ACTB):c.495C>T (p.Ile165=)	ACTB	Single nucleotide variant (synonymous variant)	ACTB-related disorder +1 more	GLikely benign
Select item 696626	NM_001101.5(ACTB):c.429C>T (p.Tyr143=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +2 more	GLikely benign
Select item 381870	NM_001101.5(ACTB):c.426G>T (p.Leu142=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +3 more	GBenign/Likely benign
Select item 290841	NM_001101.5(ACTB):c.420A>G (p.Leu140=)	ACTB	Single nucleotide variant (synonymous variant)	Developmental malformations-deafness-dystonia syndrome +4 more	GBenign
Select item 1614558	NM_001101.5(ACTB):c.364-9G>C	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1 +1 more	GLikely benign
Select item 2637391	NM_001101.5(ACTB):c.301C>T (p.His101Tyr)	ACTB (H101Y)	Single nucleotide variant (missense variant)	ACTB-related disorder	GUncertain significance
Select item 388655	NM_001101.5(ACTB):c.280C>T (p.Leu94=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +2 more	GLikely benign
Select item 488462	NM_001101.5(ACTB):c.269_271del (p.Phe90del)	ACTB (F90del)	Deletion (inframe_deletion)	Baraitser-Winter syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 534591	NM_001101.5(ACTB):c.198C>T (p.Thr66=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +2 more	GLikely benign
Select item 290840	NM_001101.5(ACTB):c.168C>T (p.Asp56=)	ACTB	Single nucleotide variant (synonymous variant)	Developmental malformations-deafness-dystonia syndrome +4 more	GBenign
Select item 380782	NM_001101.5(ACTB):c.124-4C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1 +3 more	GBenign
Select item 2635166	NM_001101.5(ACTB):c.95C>G (p.Pro32Arg)	ACTB (P32R)	Single nucleotide variant (missense variant)	ACTB-related disorder	GLikely pathogenic
Select item 1328552	NM_001101.5(ACTB):c.83G>A (p.Arg28Gln)	ACTB (R28Q)	Single nucleotide variant (missense variant)	ACTB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2050555	NM_001101.5(ACTB):c.60C>T (p.Gly20=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +1 more	GLikely benign
Select item 2193778	NM_001101.5(ACTB):c.30C>T (p.Val10=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +1 more	GLikely benign
Select item 697942	NM_001101.5(ACTB):c.24C>G (p.Leu8=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +3 more	GLikely benign

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Items: 29