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Links from MedGen

Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A12
(M34K)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 39
GUncertain significance
SLC25A12
Copy number loss
Developmental and epileptic encephalopathy, 39
GPathogenic
SLC25A12
Deletion
(splice acceptor variant)
Developmental and epileptic encephalopathy, 39
GPathogenic
SLC25A12
(A432V)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 39
GPathogenic
SLC25A12
(E290D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC25A12
(R490Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC25A12
(F137S)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 39
GLikely pathogenic
SLC25A12
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SLC25A12
(E76fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 39
GLikely pathogenic
SLC25A12
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SLC25A12
(E109K)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 39
GUncertain significance
SLC25A12
Copy number loss
Developmental and epileptic encephalopathy, 39
GPathogenic
SLC25A12
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 39
GLikely pathogenic
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 39
+1 more
GConflicting classifications of pathogenicity
SLC25A12
Duplication
(intron variant)
not provided
+1 more
GUncertain significance
SLC25A12
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 39
GUncertain significance
SLC25A12
(R42H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(A552T)
Single nucleotide variant
(missense variant +1 more)
SLC25A12-related condition
+2 more
GConflicting classifications of pathogenicity
SLC25A12
(D540N)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 39
GLikely pathogenic
SLC25A12
Microsatellite
Developmental and epileptic encephalopathy, 39
GUncertain significance
SLC25A12
(V5M)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 39
GUncertain significance
SLC25A12
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 39
+1 more
GBenign
SLC25A12
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 39
GUncertain significance
SLC25A12
(R353Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A12
(Q590R)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 39
GPathogenic
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