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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC22A5
(Y396* +1 more)
Single nucleotide variant
(nonsense)
Renal carnitine transport defect
GPathogenic
RNF167
(P237fs +5 more)
Duplication
(frameshift variant)
Renal carnitine transport defect
GBenign