"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663907	NM_001099922.3(ALG13):c.131G>A (p.Gly44Glu)	ALG13 (G44E)	Single nucleotide variant (missense variant +3 more)	Developmental and epileptic encephalopathy, 36	GLikely pathogenic
Select item 66086	NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)	ALG13 (N107S +3 more)	Single nucleotide variant (missense variant +2 more)	Seizure +5 more	GPathogenic