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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC16A12
(D341G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC16A12
(G221fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
SLC16A12, SLC16A12-AS1
(W49G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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