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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSHR, CEP128
(E34K)
Single nucleotide variant
(missense variant)
Familial hyperthyroidism due to mutations in TSH receptor
+4 more
GConflicting classifications of pathogenicity
CEP128, TSHR
(P52T)
Single nucleotide variant
(missense variant)
Familial hyperthyroidism due to mutations in TSH receptor
+4 more
GBenign