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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP128, TSHR
(C29W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CEP128, TSHR
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
TSHR
(P68S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
TSHR
(P162A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
TSHR
(R450H)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
+4 more
GPathogenic/Likely pathogenic
TSHR
(W546*)
Single nucleotide variant
(nonsense)
Familial hyperthyroidism due to mutations in TSH receptor
+4 more
GConflicting classifications of pathogenicity
TSHR
(V595I)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
TSHR
(Y601*)
Single nucleotide variant
(nonsense)
not provided
GConflicting classifications of pathogenicity
TSHR
(L732fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
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