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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHEX, PTCHD1-AS
(F560fs)
Microsatellite
(frameshift variant)
Familial X-linked hypophosphatemic vitamin D refractory rickets
GLikely pathogenic
PHEX, PTCHD1-AS
(G649D)
Single nucleotide variant
(missense variant)
Familial X-linked hypophosphatemic vitamin D refractory rickets
GConflicting classifications of pathogenicity
PHEX, PTCHD1-AS
(E670K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial X-linked hypophosphatemic vitamin D refractory rickets
GUncertain significance
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