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Links from Gene

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LHX3
Deletion
not provided
GPathogenic
LHX3
(E201del +2 more)
Deletion
(inframe_deletion)
Non-acquired combined pituitary hormone deficiency with spine abnormalities
GUncertain significance
LHX3
(S324P +2 more)
Single nucleotide variant
(missense variant)
Non-acquired combined pituitary hormone deficiency with spine abnormalities
GUncertain significance
LHX3
(G301S +2 more)
Single nucleotide variant
(missense variant)
Amenorrhea
GUncertain significance
LHX3
(Q83* +2 more)
Single nucleotide variant
(nonsense)
Non-acquired combined pituitary hormone deficiency with spine abnormalities
GLikely pathogenic
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