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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEK8
(R45W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
+1 more
GConflicting classifications of pathogenicity
NEK8
(R140L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
NEK8
(V334M)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+2 more
GUncertain significance
NEK8
(R352L)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+2 more
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
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