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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2576577	NM_015213.4(DENND5A):c.3388C>T (p.Arg1130Ter)	DENND5A (R1034* +2 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 49	GLikely pathogenic
Select item 2576578	NM_015213.4(DENND5A):c.1411C>T (p.Arg471Trp)	DENND5A (R375W +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 49	GUncertain significance