"OMIM"[submitter] AND "MDH2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 267277	NM_005918.4(MDH2):c.109G>A (p.Gly37Arg)	MDH2 (G37R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 51	GPathogenic
Select item 265769	NM_005918.4(MDH2):c.398C>T (p.Pro133Leu)	MDH2 (P133L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1407836	NM_005918.4(MDH2):c.517G>A (p.Asp173Asn)	MDH2 (D173N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 266121	NM_005918.4(MDH2):c.596del (p.Gly199fs)	MDH2 (G92fs +2 more)	Deletion (frameshift variant)	Infantile encephalopathy	GPathogenic
Select item 265770	NM_005918.4(MDH2):c.620C>T (p.Pro207Leu)	MDH2 (P207L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 51 +1 more	GPathogenic
Select item 2227825	NM_005918.4(MDH2):c.751A>G (p.Met251Val)	MDH2 (M144V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1475511	NM_005918.4(MDH2):c.885+5G>A	MDH2	Single nucleotide variant (intron variant)	not provided	GUncertain significance

ClinVar