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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF12
(R357Q)
Single nucleotide variant
(missense variant)
Cholestasis, progressive familial intrahepatic, 8
GUncertain significance
KIF12
(R357*)
Single nucleotide variant
(nonsense)
Cholestasis, progressive familial intrahepatic, 8
GPathogenic
KIF12
(V342M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
KIF12
(R293*)
Single nucleotide variant
(nonsense)
Cholestasis, progressive familial intrahepatic, 8
GPathogenic
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