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Links from MedGen

Items: 1 to 100 of 121

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSHR
(R450fs)
Deletion
(frameshift variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GPathogenic
TSHR
(R528C)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
GLikely pathogenic
TSHR
(Y613*)
Single nucleotide variant
(nonsense)
Hypothyroidism due to TSH receptor mutations
GPathogenic
TSHR
(D403N)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
GLikely pathogenic
TSHR
(A593fs)
Deletion
(frameshift variant)
Hypothyroidism due to TSH receptor mutations
GLikely pathogenic
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
(I654F)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
GLikely pathogenic
TSHR
Single nucleotide variant
(intron variant)
Hypothyroidism due to TSH receptor mutations
GPathogenic
TSHR
Single nucleotide variant
(synonymous variant)
Familial hyperthyroidism due to mutations in TSH receptor
+2 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(synonymous variant)
Familial hyperthyroidism due to mutations in TSH receptor
+2 more
GConflicting classifications of pathogenicity
TSHR
(I155L)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
+2 more
GConflicting classifications of pathogenicity
TSHR
(T136A)
Single nucleotide variant
(missense variant)
Familial hyperthyroidism due to mutations in TSH receptor
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(3 prime UTR variant)
Familial hyperthyroidism due to mutations in TSH receptor
+1 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(synonymous variant)
Hypothyroidism due to TSH receptor mutations
+2 more
GConflicting classifications of pathogenicity
TSHR
(I541V)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GConflicting classifications of pathogenicity
TSHR
(R528H)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
(S305R)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
+2 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(synonymous variant)
TSHR-related disorder
+3 more
GConflicting classifications of pathogenicity
TSHR
(T66N)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(synonymous variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
(G753S)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
(R519H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(synonymous variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
(I253T)
Single nucleotide variant
(missense variant)
Familial hyperthyroidism due to mutations in TSH receptor
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(synonymous variant)
Familial hyperthyroidism due to mutations in TSH receptor
+1 more
GUncertain significance
TSHR, CEP128
(E34K)
Single nucleotide variant
(missense variant)
Familial hyperthyroidism due to mutations in TSH receptor
+4 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GConflicting classifications of pathogenicity
TSHR
(A204V)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GConflicting classifications of pathogenicity
TSHR, CEP128
Single nucleotide variant
Familial hyperthyroidism due to mutations in TSH receptor
+1 more
GUncertain significance
CEP128, TSHR
Single nucleotide variant
Familial hyperthyroidism due to mutations in TSH receptor
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(synonymous variant)
Familial hyperthyroidism due to mutations in TSH receptor
+2 more
GConflicting classifications of pathogenicity
TSHR
(C408R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TSHR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
IGSF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
TSHR
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TSHR
(P162S)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
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
TPO
(N217S)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
+2 more
GUncertain significance
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GBenign/Likely benign
TSHR
Single nucleotide variant
(3 prime UTR variant)
Familial hyperthyroidism due to mutations in TSH receptor
+1 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(3 prime UTR variant)
Familial hyperthyroidism due to mutations in TSH receptor
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(3 prime UTR variant)
Familial hyperthyroidism due to mutations in TSH receptor
+1 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GBenign
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GBenign/Likely benign
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GBenign
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GBenign
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GBenign
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GBenign/Likely benign
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GBenign
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(3 prime UTR variant)
Familial hyperthyroidism due to mutations in TSH receptor
+1 more
GBenign
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GBenign/Likely benign
TSHR
(R707Q)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
+2 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(synonymous variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(intron variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR
(G132R)
Single nucleotide variant
(missense variant)
Familial hyperthyroidism due to mutations in TSH receptor
+5 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(synonymous variant)
Hypothyroidism due to TSH receptor mutations
+3 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CEP128, TSHR
(S53R)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GUncertain significance
TSHR, CEP128
Single nucleotide variant
(5 prime UTR variant)
Familial hyperthyroidism due to mutations in TSH receptor
+1 more
GConflicting classifications of pathogenicity
TSHR
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
TSHR
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
TSHR
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
TSHR
(G245S)
Single nucleotide variant
(missense variant)
Familial hyperthyroidism due to mutations in TSH receptor
+2 more
GConflicting classifications of pathogenicity
TSHR
(R450H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
TSHR
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TSHR
(V448I)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
+2 more
GConflicting classifications of pathogenicity
TSHR
Microsatellite
(splice donor variant)
not provided
+1 more
GLikely pathogenic
TSHR
(R248S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign
TSHR
(R310H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSHR
(E727D)
Single nucleotide variant
(missense variant)
Familial hyperthyroidism due to mutations in TSH receptor
+4 more
GBenign/Likely benign
TSHR
(V721F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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