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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RSPH1
(K136fs +1 more)
Microsatellite
(frameshift variant)
Primary ciliary dyskinesia 24
GLikely pathogenic
RSPH1
Single nucleotide variant
(splice acceptor variant)
RSPH1-related condition
+3 more
GPathogenic
LOC126653391, RSPH1
(E29*)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia 24
+1 more
GPathogenic
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