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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPECC1L, SPECC1L-ADORA2A
(E279G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Teebi hypertelorism syndrome
GUncertain significance
ADORA2A, C22orf15
+25 more
Copy number gain
Cerebellar ataxia
GUncertain significance