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Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSHR
(C398G)
Single nucleotide variant
(missense variant)
Familial gestational hyperthyroidism
GLikely pathogenic
TSHR
(D160E)
Single nucleotide variant
(missense variant)
TSHR-related disorder
+1 more
GUncertain significance
TSHR
(S505R)
Single nucleotide variant
(missense variant)
Familial gestational hyperthyroidism
GPathogenic
TSHR
Single nucleotide variant
(intron variant)
Hypothyroidism due to TSH receptor mutations
+2 more
GBenign
CEP128, TSHR
(L57P)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TSHR
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign
TSHR
(T655fs)
Deletion
(frameshift variant)
Hypothyroidism due to TSH receptor mutations
+3 more
GPathogenic/Likely pathogenic
TSHR
(Q761P)
Single nucleotide variant
(missense variant)
Familial gestational hyperthyroidism
GUncertain significance
TSHR
(P68S)
Single nucleotide variant
(missense variant)
Familial hyperthyroidism due to mutations in TSH receptor
+4 more
GConflicting classifications of pathogenicity
TSHR
(M140fs)
Deletion
(frameshift variant)
Hypothyroidism due to TSH receptor mutations
+3 more
GPathogenic/Likely pathogenic
TSHR
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
TSHR
(G132R)
Single nucleotide variant
(missense variant)
Familial hyperthyroidism due to mutations in TSH receptor
+5 more
GConflicting classifications of pathogenicity
TSHR
(R450H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
TSHR
(R248S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign
TSHR
(E727D)
Single nucleotide variant
(missense variant)
Familial hyperthyroidism due to mutations in TSH receptor
+4 more
GBenign/Likely benign
CEP128, TSHR
(P52T)
Single nucleotide variant
(missense variant)
Familial hyperthyroidism due to mutations in TSH receptor
+4 more
GBenign
TSHR
(K183R)
Single nucleotide variant
(missense variant)
Familial gestational hyperthyroidism
GPathogenic
TSHR
(A553T)
Single nucleotide variant
(missense variant)
Familial hyperthyroidism due to mutations in TSH receptor
+5 more
GConflicting classifications of pathogenicity
TSHR
(C390W)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
+2 more
GLikely pathogenic
TSHR
(P162A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
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