C3463992[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 190328	NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln)	KCNA2 (R297Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 932944	NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	CFAP96, UFSP2 (V115E)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 495141	NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	PACS2 (E209K +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 646598	NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met)	TBC1D24 (V10M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1333390	NM_139058.3(ARX):c.1073G>A (p.Arg358Lys)	ARX (R358K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1	GUncertain significance
Select item 11186	NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)	ARX, LOC109610631	Microsatellite (inframe_insertion)	Developmental and epileptic encephalopathy, 1 +5 more	GPathogenic/Likely pathogenic

ClinVar