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Links from MedGen

Items: 1 to 100 of 200

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TG
(R1328H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TG
(D1014H)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
Single nucleotide variant
(intron variant)
TG-related disorder
+1 more
GUncertain significance
TG
(V1664M)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TG
(L1457V)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(V316I)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
TG
(N2616I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
TG
(Y1165C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TG
(V1495A)
Single nucleotide variant
(missense 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
(intron variant)
not provided
+1 more
GBenign/Likely benign
TG
(R854Q)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
(G67S)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
Iodotyrosyl coupling defect
+1 more
GBenign
TG
(D2091G)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GBenign/Likely benign
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
TG
(I109V)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+2 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
(T1498M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
TG
(S1222L)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+2 more
GBenign/Likely benign
TG
(R2676W)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TG
(R988H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLA, TG
(V2472L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
SLA, TG
Single nucleotide variant
(synonymous variant +1 more)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(intron variant)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
Iodotyrosyl coupling defect
+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
GBenign
SLA, TG
(R2455H)
Single nucleotide variant
(missense variant +1 more)
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
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(R1952Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TG
(T1620M)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
(G525R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(R1691C)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+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
SLA, TG
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(V1105I)
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
Single nucleotide variant
(synonymous variant)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(T1740K)
Single nucleotide variant
(missense 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
(splice donor variant)
not provided
+1 more
GPathogenic
TG
(R445*)
Single nucleotide variant
(nonsense)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
(V1460I)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
(R787*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(Q2736fs)
Deletion
(frameshift variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R2585W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(Y1965*)
Single nucleotide variant
(nonsense)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
(Q655*)
Single nucleotide variant
(nonsense)
Iodotyrosyl coupling defect
GUncertain significance
TG
(G2341S)
Single nucleotide variant
(missense variant)
TG-related disorder
GLikely pathogenic
TG
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(intron variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(V90fs)
Duplication
(frameshift variant)
Iodotyrosyl coupling defect
GPathogenic
TG
(G77S)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(E2641Q)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(N2616S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TG
(E2550K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TG
(L2547Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
TG
(F2526L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TG
Single nucleotide variant
(intron variant)
Iodotyrosyl coupling defect
GUncertain significance
SLA, TG
Single nucleotide variant
(synonymous variant +1 more)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
SLA, TG
(A2422T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
TG
(A2401V)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(G2388R)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(R2371Q)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(D2318N)
Single nucleotide variant
(missense 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
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(I2216V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(G2061R)
Single nucleotide variant
(missense variant)
TG-related disorder
+2 more
GConflicting classifications of pathogenicity
TG
(E1995G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TG
(R1829W)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(Q1796*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(I1790M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
TG
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TG
(R1730C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TG
(D1729A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
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