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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP128, TSHR
(L57P)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TSHR
(M140fs)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
TSHR
(P162A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
TSHR
(C390W)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
+2 more
GLikely pathogenic
TSHR
(T655fs)
Deletion
(frameshift variant)
Familial gestational hyperthyroidism
+3 more
GPathogenic/Likely pathogenic
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