"Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU Münc - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1759510	NM_005918.4(MDH2):c.755C>T (p.Ala252Val)	MDH2 (A210V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 51 +1 more	GConflicting classifications of pathogenicity
Select item 1804008	NM_005918.4(MDH2):c.884G>T (p.Gly295Val)	MDH2 (G188V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 51	GLikely pathogenic