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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UNC45A
(L222P +2 more)
Single nucleotide variant
(missense variant)
UNC45A-associated Cholestasis
+3 more
GUncertain significance
UNC45A
(A302L +2 more)
Indel
(missense variant)
Increased susceptibility to fractures
+3 more
GUncertain significance