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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC34A3
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC34A3
(R485H)
Single nucleotide variant
(missense variant)
Autosomal recessive hypophosphatemic bone disease
+2 more
GConflicting classifications of pathogenicity
SLC34A3
(I529F)
Single nucleotide variant
(missense variant)
Autosomal recessive hypophosphatemic bone disease
+2 more
GConflicting classifications of pathogenicity
SLC34A3
(R547C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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