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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130000829, LOC130000830
+2 more
Deletion
Primary ciliary dyskinesia 28
+1 more
GPathogenic
SPAG1
(M1R)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 28
GPathogenic
SPAG1
(Q672*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 28
+2 more
GPathogenic/Likely pathogenic
SPAG1
(D848fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 28
GPathogenic
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