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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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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