"ACTB-related BAFopathy"[Disease/phenotype] AND "Baylor Genetics"[subm - ClinVar - NCBI

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Items: 9

	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 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 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