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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC34A1
(S176fs)
Microsatellite
(frameshift variant)
Hypercalcemia, infantile, 2
GLikely pathogenic
SLC34A1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC34A1
(T413I)
Single nucleotide variant
(missense variant)
Hypercalcemia, infantile, 2
GUncertain significance
SLC34A1
(G450S)
Single nucleotide variant
(missense variant)
Fanconi renotubular syndrome 2
+2 more
GConflicting classifications of pathogenicity
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