"Baylor Genetics"[submitter] AND "ACTB"[gene] - ClinVar - NCBI

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

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2442085	NM_001101.5(ACTB):c.1058A>C (p.Gln353Pro)	ACTB (Q353P)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
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 1029077	NM_001101.5(ACTB):c.880T>G (p.Tyr294Asp)	ACTB (Y294D)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	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 1177326	NM_001101.5(ACTB):c.587G>T (p.Arg196Leu)	ACTB (R196L)	Single nucleotide variant (missense variant)	ACTB-related BAFopathy +1 more	GLikely pathogenic
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 1319338	NM_001101.5(ACTB):c.454G>A (p.Val152Met)	ACTB (V152M)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2442032	NM_001101.5(ACTB):c.373G>A (p.Glu125Lys)	ACTB (E125K)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 998240	NM_001101.5(ACTB):c.257G>A (p.Trp86Ter)	ACTB (W86*)	Single nucleotide variant (nonsense)	Developmental malformations-deafness-dystonia syndrome	GUncertain significance
Select item 1177325	NM_001101.5(ACTB):c.118C>T (p.His40Tyr)	ACTB (H40Y)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1 +1 more	GLikely pathogenic
Select item 279942	NM_001101.5(ACTB):c.82C>G (p.Arg28Gly)	ACTB (R28G)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1177309	NM_001101.5(ACTB):c.70G>A (p.Asp24Asn)	ACTB (D24N)	Single nucleotide variant (missense variant)	ACTB-related BAFopathy	GLikely pathogenic
Select item 1177308	NM_001101.5(ACTB):c.20C>T (p.Ala7Val)	ACTB (A7V)	Single nucleotide variant (missense variant)	ACTB-related BAFopathy	GUncertain significance