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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHOX
(K79M)
Single nucleotide variant
(missense variant)
SHOX-related short stature
GUncertain significance
SHOX
(P226fs)
Insertion
(frameshift variant +1 more)
Leri-Weill dyschondrosteosis
GLikely pathogenic