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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR1C, RSPH9
(A94V)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 12
+1 more
GUncertain significance
POLR1C, RSPH9
(K268del +1 more)
Microsatellite
(inframe_deletion)
Primary ciliary dyskinesia
+2 more
GPathogenic