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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP128, TSHR
(E34K)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
+4 more
GConflicting classifications of pathogenicity
TSHR
(P68S)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
+3 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSHR
(T477P)
Single nucleotide variant
(missense variant)
Familial hyperthyroidism due to mutations in TSH receptor
GBenign
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