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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NHERF1
(R153Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NHERF1
(I219M)
Single nucleotide variant
(missense variant)
Hypophosphatemic nephrolithiasis/osteoporosis 2
+1 more
GUncertain significance
BTBD17, ARMC7
+40 more
Copy number gain
not provided
GPathogenic
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