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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARHGEF9
(I259V +6 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 8
+1 more
GUncertain significance
ARHGEF9
(R289* +7 more)
Single nucleotide variant
(nonsense)
Global developmental delay
+2 more
GPathogenic
ARHGEF9
(L109P +7 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 8
GUncertain significance
ARHGEF9
(M153I +7 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 8
GConflicting classifications of pathogenicity
ARHGEF9
Single nucleotide variant
(synonymous variant +2 more)
Developmental and epileptic encephalopathy, 8
GConflicting classifications of pathogenicity
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