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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RSPH1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 24
+1 more
GBenign/Likely benign
RSPH1
Deletion
(intron variant)
Primary ciliary dyskinesia
+2 more
GBenign/Likely benign
RSPH1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+1 more
GBenign/Likely benign
RSPH1
(L217W +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 24
+3 more
GBenign/Likely benign
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