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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGF23
(R179W)
Single nucleotide variant
(missense variant)
Autosomal dominant hypophosphatemic rickets
+1 more
GPathogenic/Likely pathogenic
FGF23
(R176Q)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
FGF23
(S129F)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 2
GPathogenic
FGF23
(M96T)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 2
+1 more
GPathogenic
FGF23
(S71G)
Single nucleotide variant
(missense variant)
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
+2 more
GConflicting classifications of pathogenicity
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