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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GHSR
(S252L)
Single nucleotide variant
(missense variant)
Short stature due to growth hormone secretagogue receptor deficiency
+1 more
GUncertain significance
GHSR
(W193fs)
Duplication
(frameshift variant)
Short stature due to growth hormone secretagogue receptor deficiency
GUncertain significance
GHSR
(R141P)
Single nucleotide variant
(missense variant)
Short stature due to growth hormone secretagogue receptor deficiency
+2 more
GUncertain significance
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