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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TPO
(Q72*)
Single nucleotide variant
(nonsense)
Deficiency of iodide peroxidase
GPathogenic
TPO
(R438C)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(R665Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
TPO
(S594P +2 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
ASXL1
(R693* +1 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
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