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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LHX3
(R307P +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LHX3
Single nucleotide variant
(synonymous variant)
Non-acquired combined pituitary hormone deficiency with spine abnormalities
+1 more
GLikely benign
LHX3
Single nucleotide variant
(synonymous variant)
LHX3-related disorder
+2 more
GLikely benign
LHX3
(R143L +2 more)
Single nucleotide variant
(missense variant)
Non-acquired combined pituitary hormone deficiency with spine abnormalities
GUncertain significance
LHX3
Single nucleotide variant
(intron variant)
Non-acquired combined pituitary hormone deficiency with spine abnormalities
+1 more
GUncertain significance
LHX3
(A3V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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