"Baylor Genetics"[submitter] AND "CPEB1-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031454	NM_001278512.2(AP3B2):c.3293C>A (p.Ala1098Asp)	AP3B2, CPEB1-AS1 (A1098D +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 48 +1 more	GUncertain significance
Select item 786277	NM_001278512.2(AP3B2):c.3143C>A (p.Ser1048Tyr)	AP3B2, CPEB1-AS1 (S92Y +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1034107	NM_001278512.2(AP3B2):c.2679C>G (p.Asp893Glu)	AP3B2, CPEB1-AS1 (D842E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1034106	NM_001278512.2(AP3B2):c.2633G>A (p.Arg878Gln)	AP3B2, CPEB1-AS1 (R827Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1034105	NM_001278512.2(AP3B2):c.1636G>C (p.Ala546Pro)	AP3B2, CPEB1-AS1 (A514P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1034104	NM_001278512.2(AP3B2):c.1183-19T>G	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1031455	NM_001278512.2(AP3B2):c.940C>T (p.Gln314Ter)	AP3B2, CPEB1-AS1 (Q282* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 48	GPathogenic

ClinVar