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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSTD3, USP45
(G664* +4 more)
Single nucleotide variant
(nonsense +1 more)
Short stature
GPathogenic
TSTD3, USP45
(S523G +4 more)
Single nucleotide variant
(missense variant +1 more)
Short stature
GLikely pathogenic
TSTD3, USP45
(V243M +1 more)
Single nucleotide variant
(missense variant +2 more)
Short stature
GLikely pathogenic
TSTD3, USP45
(S60A +1 more)
Single nucleotide variant
(missense variant +2 more)
Short stature
GLikely pathogenic
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