"Genome-Nilou Lab"[submitter] AND "ACTB"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 383008	NM_001101.5(ACTB):c.985-6C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1 +3 more	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 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 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 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 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 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 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 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 381870	NM_001101.5(ACTB):c.426G>T (p.Leu142=)	ACTB	Single nucleotide variant (synonymous variant)	Developmental malformations-deafness-dystonia syndrome +2 more	GBenign/Likely benign
Select item 290841	NM_001101.5(ACTB):c.420A>G (p.Leu140=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +3 more	GBenign
Select item 379378	NM_001101.5(ACTB):c.364-16T>C	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1 +2 more	GBenign
Select item 379757	NM_001101.5(ACTB):c.363+16C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1 +2 more	GBenign/Likely benign
Select item 290840	NM_001101.5(ACTB):c.168C>T (p.Asp56=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +3 more	GBenign
Select item 380782	NM_001101.5(ACTB):c.124-4C>T	ACTB	Single nucleotide variant (intron variant)	Developmental malformations-deafness-dystonia syndrome +2 more	GBenign
Select item 698769	NM_001101.5(ACTB):c.124-7T>A	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1 +2 more	GBenign
Select item 502223	NM_001101.5(ACTB):c.96C>T (p.Pro32=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +2 more	GBenign/Likely benign
Select item 195111	NM_001101.5(ACTB):c.-6-4G>T	ACTB	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 561390	NM_001101.5(ACTB):c.-6-33C>T	ACTB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign

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Items: 25