"Revvity Omics, Revvity"[submitter] AND "PHACTR1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434678	NM_030948.6(PHACTR1):c.206C>A (p.Thr69Lys)	PHACTR1 (T69K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 2434677	NM_030948.6(PHACTR1):c.917_918delinsTT (p.His306Leu)	PHACTR1 (H214L +4 more)	Indel (missense variant)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 2434680	NM_030948.6(PHACTR1):c.920C>T (p.Pro307Leu)	PHACTR1 (P215L +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2689688	NM_030948.6(PHACTR1):c.1000G>C (p.Val334Leu)	PHACTR1 (V242L +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 2434676	NM_030948.6(PHACTR1):c.1043G>A (p.Gly348Asp)	PHACTR1 (G256D +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 2434679	NM_030948.6(PHACTR1):c.1388C>T (p.Thr463Ile)	PHACTR1 (T371I +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 70	GUncertain significance

ClinVar