U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MDH2
(V166M +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 51
GUncertain significance
MDH2
(T128R +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 51
GUncertain significance
MDH2
(M144V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MDH2
(G188V +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 51
GLikely pathogenic
MDH2
(A210V +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 51
+1 more
GConflicting classifications of pathogenicity
MDH2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
MDH2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MDH2
(D173N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MDH2
(E193G +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 51
+1 more
GUncertain significance
MDH2
(F48L +1 more)
Single nucleotide variant
(intron variant +1 more)
Developmental and epileptic encephalopathy, 51
GUncertain significance
MDH2
(L2V)
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy, 51
GUncertain significance
MDH2
(A141T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MDH2
(A126T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MDH2
(R122Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
Infantile encephalopathy
GPathogenic
MDH2
(G37R)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 51
GPathogenic
MDH2
(G92fs +2 more)
Deletion
(frameshift variant)
Infantile encephalopathy
GPathogenic
MDH2
(P207L +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 51
+1 more
GPathogenic
MDH2
(P133L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
Format
Items per page
Sort by
Choose Destination