"3billion"[submitter] AND "ACTB"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 449190	NM_001101.5(ACTB):c.826G>A (p.Glu276Lys)	ACTB (E276K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 29599	NM_001101.5(ACTB):c.587G>A (p.Arg196His)	ACTB (R196H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 1320256	NM_001101.5(ACTB):c.142G>T (p.Gly48Cys)	ACTB (G48C)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	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 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 1333448	NM_001101.5(ACTB):c.59G>A (p.Gly20Asp)	ACTB (G20D)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance

ClinVar