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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HESX1
(R159W)
Single nucleotide variant
(missense variant +1 more)
Septo-optic dysplasia sequence
+2 more
GConflicting classifications of pathogenicity
HESX1
(N118K)
Single nucleotide variant
(missense variant)
Septo-optic dysplasia sequence
GUncertain significance
HESX1
(S4N)
Single nucleotide variant
(missense variant)
GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
+1 more
GUncertain significance
HESX1
(M1I)
Single nucleotide variant
(missense variant +1 more)
Septo-optic dysplasia sequence
+1 more
GConflicting classifications of pathogenicity
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