ClinVar for MedGen (Select 1372686) - ClinVar

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Items: 23

	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 2227825	NM_005918.4(MDH2):c.751A>G (p.Met251Val)	MDH2 (M144V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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
Select item 1781861	NM_005918.4(MDH2):c.187G>A (p.Gly63Arg)	MDH2 (G63R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 51 +1 more	GConflicting classifications of pathogenicity
Select item 1779552	NM_005918.4(MDH2):c.175G>A (p.Ala59Thr)	MDH2 (A59T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1759510	NM_005918.4(MDH2):c.755C>T (p.Ala252Val)	MDH2 (A210V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1746283	NM_005918.4(MDH2):c.523G>A (p.Val175Ile)	MDH2 (V175I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1629809	NM_005918.4(MDH2):c.177G>A (p.Ala59=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1475511	NM_005918.4(MDH2):c.885+5G>A	MDH2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1385252	NM_005918.4(MDH2):c.580G>A (p.Val194Ile)	MDH2 (V194I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1098585	NM_005918.4(MDH2):c.899A>G (p.Glu300Gly)	MDH2 (E193G +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 51 +1 more	GUncertain significance
Select item 1033044	NM_005918.4(MDH2):c.465C>G (p.Phe155Leu)	MDH2 (F48L +1 more)	Single nucleotide variant (intron variant +1 more)	Developmental and epileptic encephalopathy, 51	GUncertain significance
Select item 1030036	NM_005918.4(MDH2):c.4C>G (p.Leu2Val)	MDH2 (L2V)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 51	GUncertain significance
Select item 1030035	NM_005918.4(MDH2):c.421G>A (p.Ala141Thr)	MDH2 (A141T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1030034	NM_005918.4(MDH2):c.376G>A (p.Ala126Thr)	MDH2 (A126T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 983138	NM_005918.4(MDH2):c.686G>A (p.Arg229Gln)	MDH2 (R122Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 427831	NM_005918.3(MDH2):c.[109G>A];[398C>T]			Infantile encephalopathy	GPathogenic
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 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 265769	NM_005918.4(MDH2):c.398C>T (p.Pro133Leu)	MDH2 (P133L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 51 +2 more	GPathogenic

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Items: 23