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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CA2
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
CA2
Single nucleotide variant
(splice donor variant)
Osteopetrosis with renal tubular acidosis
+1 more
GPathogenic
CA2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CA2
(R226H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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