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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC16A12
(S406C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
SLC16A12
(F301fs)
Microsatellite
(frameshift variant)
Juvenile cataract-microcornea-renal glucosuria syndrome
+1 more
GUncertain significance
SLC16A12
(S253F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC16A12
(R204W)
Single nucleotide variant
(missense variant)
Juvenile cataract-microcornea-renal glucosuria syndrome
GUncertain significance
SLC16A12
(S158P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC16A12, SLC16A12-AS1
(S41Y)
Single nucleotide variant
(missense variant)
Juvenile cataract-microcornea-renal glucosuria syndrome
+1 more
GUncertain significance
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