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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHEX
(S68fs)
Deletion
(frameshift variant)
Familial X-linked hypophosphatemic vitamin D refractory rickets
GPathogenic
PHEX
(S336fs)
Duplication
(frameshift variant)
Familial X-linked hypophosphatemic vitamin D refractory rickets
GPathogenic
PHEX
Single nucleotide variant
(intron variant)
Familial X-linked hypophosphatemic vitamin D refractory rickets
GUncertain significance
PHEX, PTCHD1-AS
(Y626*)
Duplication
(nonsense)
Familial X-linked hypophosphatemic vitamin D refractory rickets
GPathogenic
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