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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEK1
Single nucleotide variant
(synonymous variant +1 more)
Connective tissue disorder
+3 more
GConflicting classifications of pathogenicity
NEK1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
NEK1
(A463V +3 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 6 with or without polydactyly
+2 more
GBenign/Likely benign
NEK1
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 6 with or without polydactyly
GUncertain significance
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