"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502357	NM_001958.5(EEF1A2):c.1145G>C (p.Arg382Pro)	EEF1A2 (R382P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 577676	NM_001958.5(EEF1A2):c.1141C>T (p.Arg381Trp)	EEF1A2 (R381W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33 +1 more	GConflicting classifications of pathogenicity
Select item 1285456	NM_001958.5(EEF1A2):c.490G>A (p.Glu164Lys)	EEF1A2, LOC132090595 (E164K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 982593	NM_001958.5(EEF1A2):c.465G>A (p.Met155Ile)	EEF1A2, LOC132090595 (M155I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1330184	GRCh37/hg19 20q13.33(chr20:61828010-62324686)x1	ARFGAP1, BIRC7 +14 more	Copy number loss	Developmental and epileptic encephalopathy, 2	GPathogenic

ClinVar