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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPR2, SPAG8
(I908T +1 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 1, Maroteaux type
+2 more
GUncertain significance
SPAG8, NPR2
Single nucleotide variant
(synonymous variant +1 more)
Tall stature-scoliosis-macrodactyly of the great toes syndrome
+2 more
GConflicting classifications of pathogenicity