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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHEX
(E217*)
Single nucleotide variant
(nonsense)
Familial X-linked hypophosphatemic vitamin D refractory rickets
+1 more
GPathogenic
PHEX
Single nucleotide variant
(intron variant)
Familial X-linked hypophosphatemic vitamin D refractory rickets
GUncertain significance
PHEX, PTCHD1-AS
(G719A +1 more)
Single nucleotide variant
(missense variant)
Familial X-linked hypophosphatemic vitamin D refractory rickets
GLikely pathogenic
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