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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A22
(Q319*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 3
GUncertain significance
SLC25A22
(F225C)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 3
GUncertain significance
SLC25A22
(R175H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 3
+2 more
GUncertain significance
SLC25A22
(R132H +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 3
GUncertain significance
SLC25A22
(Q93H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 3
+1 more
GUncertain significance
SLC25A22
(R67L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 3
GUncertain significance
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