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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTCHD1-AS, PHEX
(R567*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
PHEX, PTCHD1-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial X-linked hypophosphatemic vitamin D refractory rickets
GPathogenic/Likely pathogenic