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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129997052, RSPH4A
(R56fs)
Duplication
(frameshift variant)
Kartagener syndrome
Gnot provided
RSPH4A
(Q109*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
GPathogenic
RSPH4A
(Q154*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
GPathogenic
RSPH4A
Deletion
(splice donor variant)
not provided
+3 more
GPathogenic
RSPH4A
(R490*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
GPathogenic
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