C4310637[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1098698	NM_001278512.2(AP3B2):c.2930G>A (p.Arg977Gln)	AP3B2, CPEB1-AS1 (R21Q +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 48 +1 more	GUncertain significance
Select item 2435024	NM_001278512.2(AP3B2):c.2929C>T (p.Arg977Ter)	AP3B2, CPEB1-AS1 (R21* +3 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 48	GPathogenic
Select item 374851	NM_001278512.2(AP3B2):c.1837del (p.Glu613fs)	AP3B2, CPEB1-AS1 (E613fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 48	GPathogenic
Select item 1442192	NM_001278512.2(AP3B2):c.1767C>A (p.Ser589=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 48 +1 more	GConflicting classifications of pathogenicity
Select item 2434281	NM_001278512.2(AP3B2):c.1750C>T (p.Gln584Ter)	AP3B2, CPEB1-AS1 (Q552* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 48	GLikely pathogenic
Select item 807299	NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr)	AP3B2, CPEB1-AS1 (K262T +1 more)	Single nucleotide variant (missense variant)	not provided +12 more	GUncertain significance
Select item 1323917	NM_001278512.2(AP3B2):c.454G>T (p.Glu152Ter)	AP3B2, CPEB1-AS1 (E120* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 48	GLikely pathogenic

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