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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT80, TRIM59-IFT80
(V294I +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GBenign/Likely benign
IFT80, TRIM59-IFT80
Single nucleotide variant
(non-coding transcript variant +2 more)
Jeune thoracic dystrophy
+1 more
GLikely benign
SMC4, TRIM59-IFT80
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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