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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC5A7
(A222V +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuronopathy, distal hereditary motor, type 7A
+1 more
GUncertain significance
SLC5A7
(V436M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SLC5A7
(R548Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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