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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHEX
(A62V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PHEX
Single nucleotide variant
(synonymous variant)
Familial X-linked hypophosphatemic vitamin D refractory rickets
+1 more
GPathogenic/Likely pathogenic
PHEX, PHEX-AS1
(V476I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PHEX, PTCHD1-AS
(G649D)
Single nucleotide variant
(missense variant)
Familial X-linked hypophosphatemic vitamin D refractory rickets
GConflicting classifications of pathogenicity
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