"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ACTB"[gene - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2657286	NM_001101.5(ACTB):c.1116C>T (p.Arg372=)	ACTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 279997	NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu)	ACTB (S348L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 871389	NM_001101.5(ACTB):c.1003C>T (p.Arg335Cys)	ACTB (R335C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2657287	NM_001101.5(ACTB):c.934A>C (p.Arg312=)	ACTB	Single nucleotide variant (synonymous variant)	not provided	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 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 387743	NM_001101.5(ACTB):c.762G>C (p.Arg254=)	ACTB	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 696892	NM_001101.5(ACTB):c.720C>T (p.Tyr240=)	ACTB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 127172	NM_001101.5(ACTB):c.625G>A (p.Val209Met)	ACTB (V209M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 29599	NM_001101.5(ACTB):c.587G>A (p.Arg196His)	ACTB (R196H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 871390	NM_001101.5(ACTB):c.583G>A (p.Glu195Lys)	ACTB (E195K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 18275	NM_001101.5(ACTB):c.547C>T (p.Arg183Trp)	ACTB (R183W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 1695182	NM_001101.5(ACTB):c.476T>C (p.Val159Ala)	ACTB (V159A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 698838	NM_001101.5(ACTB):c.453C>T (p.Ile151=)	ACTB	Single nucleotide variant (synonymous variant)	not provided +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 +3 more	GBenign/Likely benign
Select item 2657288	NM_001101.5(ACTB):c.424C>T (p.Leu142=)	ACTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1701517	NM_001101.5(ACTB):c.364-3C>G	ACTB	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1695183	NM_001101.5(ACTB):c.364-4_364-3insAA	ACTB	Insertion (intron variant)	not provided +1 more	GLikely benign
Select item 695454	NM_001101.5(ACTB):c.364-7C>T	ACTB	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 534591	NM_001101.5(ACTB):c.198C>T (p.Thr66=)	ACTB	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 932625	NM_001101.5(ACTB):c.166G>A (p.Asp56Asn)	ACTB (D56N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 561793	NM_001101.5(ACTB):c.124G>A (p.Gly42Ser)	ACTB (G42S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 810065	NM_001101.5(ACTB):c.78C>T (p.Ala26=)	ACTB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2657289	NM_001101.5(ACTB):c.24C>A (p.Leu8=)	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)	ACTB-related condition +3 more	GLikely benign
Select item 195111	NM_001101.5(ACTB):c.-6-4G>T	ACTB	Single nucleotide variant (intron variant)	not provided +3 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 27