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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806316, PAX8
+1 more
(P252A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC126806316, PAX8
+1 more
(R224C)
Single nucleotide variant
(missense variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance