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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
+1 more
GBenign/Likely benign
CEP120
Duplication
(intron variant)
not provided
GLikely benign