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Items: 1 to 100 of 264

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TG
Single nucleotide variant
Iodotyrosyl coupling defect
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R32C)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TG
(E54Q)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
TG-related condition
+2 more
GConflicting classifications of pathogenicity
TG
(G67S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(G77S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TG
(I109V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TG
(P118L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(A127T)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(V129I)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(R152C)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R152H)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+2 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
TG
(S163N)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(A185V)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(intron variant)
Iodotyrosyl coupling defect
GConflicting classifications of pathogenicity
TG
(G233E)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R283Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TG
(R296*)
Single nucleotide variant
(nonsense)
Autoimmune thyroid disease, susceptibility to, 3
+2 more
GPathogenic
TG
(T309A)
Single nucleotide variant
(missense variant)
TG-related condition
+2 more
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
(Q331H)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+2 more
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
Iodotyrosyl coupling defect
+2 more
GConflicting classifications of pathogenicity
TG
(R350Q)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
(E442G)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
TG
(R445*)
Single nucleotide variant
(nonsense)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
(R455H)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
(N511S)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(Q515E)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TG
(S523P)
Single nucleotide variant
(missense variant)
TG-related condition
+3 more
GConflicting classifications of pathogenicity
TG
(G525R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(T543S)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+2 more
GUncertain significance
TG
(N561D)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(P588T)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(T601M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
TG
(P612T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(P612R)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(T621M)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
TG
(G634R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(G653D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(Q655*)
Single nucleotide variant
(nonsense)
Iodotyrosyl coupling defect
GUncertain significance
TG
(M673T)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(G679D)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(F693L)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R717Q)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(S734A)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(G767R)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(N775H)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(P777L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
TG
(R787*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(G815R)
Single nucleotide variant
(missense variant)
TG-related condition
+2 more
GBenign/Likely benign
TG
(G815E)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(L819F)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(Q830E)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GLikely benign
TG
(R854W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TG
(R854Q)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
(Q870H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
(R896W)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(E903D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TG
(S913P)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
Single nucleotide variant
(splice donor variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
TG
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
TG
Single nucleotide variant
(intron variant)
Iodotyrosyl coupling defect
+2 more
GConflicting classifications of pathogenicity
TG
(L930F)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
(E940A)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(R988H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(R988P)
Single nucleotide variant
(missense variant)
TG-related condition
+2 more
GBenign/Likely benign
TG
(A993T)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(I994V)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+2 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(intron variant)
TG-related condition
+1 more
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(P1012L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TG
(D1014H)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(M1028V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
TG
(A1033V)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
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