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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP6V1B1
(T30I)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
ATP6V1B1
(V66I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP6V1B1
(E161K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ATP6V1B1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
ATP6V1B1
(A272V)
Single nucleotide variant
(missense variant)
Renal tubular acidosis with progressive nerve deafness
+3 more
GConflicting classifications of pathogenicity
ATP6V1B1
(V426M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATP6V1B1
(R465H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ATP6V1B1
(D495Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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