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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC22A5
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
SLC22A5
(P46S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SLC22A5
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
SLC22A5
Single nucleotide variant
(splice acceptor variant)
Renal carnitine transport defect
GLikely pathogenic
SLC22A5
(I312V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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