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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC34A3
(V354M)
Single nucleotide variant
(missense variant)
Autosomal recessive hypophosphatemic bone disease
+1 more
GUncertain significance
SLC34A3
(L416fs)
Deletion
(frameshift variant)
Autosomal recessive hypophosphatemic bone disease
+1 more
GPathogenic/Likely pathogenic