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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SZT2
(F1400Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SZT2
(R1606Q +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+1 more
GConflicting classifications of pathogenicity
SZT2
(V2151G +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
GUncertain significance
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