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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GABBR2, LOC126860700
(D235N)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
+1 more
GUncertain significance
LOC126860700, GABBR2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
GABBR2, LOC126860700
(S231N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GABBR2, LOC126860700
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
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