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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR72
(R896*)
Single nucleotide variant
(nonsense +1 more)
Amelogenesis imperfecta hypomaturation type 2A3
GPathogenic
WDR72
(L841Q)
Single nucleotide variant
(missense variant +1 more)
Renal tubular acidosis, distal, 4, with hemolytic anemia
GPathogenic
WDR72
(R593G)
Single nucleotide variant
(missense variant +1 more)
Amelogenesis imperfecta hypomaturation type 2A3
GUncertain significance
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