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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MRPS22
(R125Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MRPS22
(R134G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MRPS22
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
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