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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSHR
(P68S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
TSHR
(G132R)
Single nucleotide variant
(missense variant)
Familial hyperthyroidism due to mutations in TSH receptor
+5 more
GConflicting classifications of pathogenicity
TSHR
(P162A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
TSHR
(V424I)
Single nucleotide variant
(missense variant)
Familial hyperthyroidism due to mutations in TSH receptor
+2 more
GUncertain significance
TSHR
(A553T)
Single nucleotide variant
(missense variant)
Familial gestational hyperthyroidism
+4 more
GConflicting classifications of pathogenicity
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