Related gene-specific medical variations for Gene (Select 4191) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433682	NM_005918.4(MDH2):c.817G>A (p.Val273Met)	MDH2 (V166M +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 51	GUncertain significance
Select item 2433681	NM_005918.4(MDH2):c.704C>G (p.Thr235Arg)	MDH2 (T128R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 51	GUncertain significance
Select item 979625	GRCh37/hg19 7q11.23(chr7:75680491-75802523)x1	MDH2	Copy number loss	not provided	GUncertain significance

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