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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IYD
(R101W)
Single nucleotide variant
(missense variant +2 more)
IYD-related condition
+1 more
GLikely pathogenic
IYD
Deletion
(inframe_indel +2 more)
not specified
+2 more
GConflicting classifications of pathogenicity
IYD
(N108S)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GBenign
IYD
(A220T +1 more)
Single nucleotide variant
(missense variant +1 more)
Iodotyrosine deiodination defect
GLikely pathogenic
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