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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC17A5
(V296I)
Single nucleotide variant
(missense variant)
Salla disease
+3 more
GBenign/Likely benign
SLC17A5
(R39C)
Single nucleotide variant
(missense variant)
Salla disease
+2 more
GPathogenic