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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TG
(G77S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TG
(R296*)
Single nucleotide variant
(nonsense)
Autoimmune thyroid disease, susceptibility to, 3
+2 more
GPathogenic
TG
(M425V)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(N484I)
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
(P612R)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(F693L)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(S747T)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(Q771*)
Single nucleotide variant
(nonsense)
Iodotyrosyl coupling defect
GLikely pathogenic
TG
(R979Q)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(A993T)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(D1014N)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TG
(E1134D)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R1250C)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R1328H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TG
(R1530Q)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(S1619F)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(Q1870E)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(S2092P)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
Single nucleotide variant
(splice donor variant)
Iodotyrosyl coupling defect
GPathogenic
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(R2177C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(Y2184N)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
SLA, TG
(R2455C)
Single nucleotide variant
(missense variant +1 more)
Iodotyrosyl coupling defect
+2 more
GUncertain significance
SLA, TG
(W2501Q)
Inversion
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TG
(R2532Q)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R2585W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(R2691C)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
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