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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126807125, SLC39A8
(C342* +1 more)
Single nucleotide variant
(nonsense)
SLC39A8-CDG
GLikely pathogenic
LOC126807125, SLC39A8
(I273M +1 more)
Single nucleotide variant
(missense variant)
SLC39A8-CDG
GUncertain significance
LOC126807125, SLC39A8
(T241M +1 more)
Single nucleotide variant
(missense variant)
SLC39A8-CDG
GUncertain significance
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