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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC22A5
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
+1 more
GConflicting classifications of pathogenicity
SLC22A5
(S494F)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
+1 more
GConflicting classifications of pathogenicity
SLC22A5
(R488H +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
+2 more
GConflicting classifications of pathogenicity
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