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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARFGEF1
(F1040V +3 more)
Single nucleotide variant
(missense variant +1 more)
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
GUncertain significance
ARFGEF1
(D902G +3 more)
Single nucleotide variant
(missense variant +1 more)
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
GUncertain significance