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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP6V0A4
(D411Y)
Single nucleotide variant
(missense variant)
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
+3 more
GPathogenic/Likely pathogenic
ATP6V0A4
(N74fs)
Deletion
(frameshift variant)
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
GLikely pathogenic