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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRG1
(R79* +2 more)
Single nucleotide variant
(nonsense +2 more)
Bilateral frontoparietal polymicrogyria
+1 more
GPathogenic
ADGRG1
(L103P +2 more)
Single nucleotide variant
(missense variant +2 more)
Bilateral frontoparietal polymicrogyria
GUncertain significance
ADGRG1
(Q247fs +4 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ADGRG1
(T208I +5 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
GUncertain significance
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