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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993895, CCNO
(Q88fs)
Microsatellite
(frameshift variant +1 more)
not provided
+2 more
GPathogenic
CCNO, LOC129993895
(G85fs)
Duplication
(frameshift variant +1 more)
Primary ciliary dyskinesia 29
+1 more
GPathogenic
GCDH
(R402W)
Single nucleotide variant
(missense variant +1 more)
Abnormality of metabolism/homeostasis
+4 more
GPathogenic/Likely pathogenic
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