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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPAG1
(L138P)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
LOC130000832, SPAG1
Microsatellite
(inframe_insertion)
Primary ciliary dyskinesia 28
+1 more
GUncertain significance
SPAG1
(M521R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
(D903N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
+2 more
GUncertain significance
SPAG1
(S905L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
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