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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP128, TSHR
(C29W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CEP128, TSHR
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic