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Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TG
Single nucleotide variant
(synonymous variant)
Iodotyrosyl coupling defect
+3 more
GConflicting classifications of pathogenicity
TG
(Q62K)
Single nucleotide variant
(missense variant)
TG-related disorder
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
TG
(T309A)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+2 more
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TG
(A341P)
Single nucleotide variant
(missense variant)
TG-related disorder
+1 more
GLikely benign
TG
(A402G)
Single nucleotide variant
(missense variant)
TG-related disorder
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TG
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
TG
(Q515E)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TG
(S523P)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TG
(T543S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
TG-related disorder
+1 more
GLikely benign
TG
(S734A)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
TG
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
TG
(G815R)
Single nucleotide variant
(missense variant)
TG-related disorder
+2 more
GBenign/Likely benign
TG
Single nucleotide variant
(synonymous variant)
TG-related disorder
+1 more
GLikely benign
TG
(E907Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TG
Deletion
(intron variant)
not provided
+1 more
GBenign/Likely benign
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TG
(R988P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
TG
Single nucleotide variant
(intron variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
Single nucleotide variant
(intron variant)
not specified
GLikely benign
TG
(M1028V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
TG
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TG
(V1105I)
Single nucleotide variant
(missense variant)
TG-related disorder
+2 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TG
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
TG
(D1312G)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
TG
Single nucleotide variant
(synonymous variant)
TG-related disorder
+1 more
GLikely benign
TG
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TG
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
TG
(D1513Y)
Single nucleotide variant
(missense variant)
TG-related disorder
+2 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(synonymous variant)
TG-related disorder
+1 more
GLikely benign
TG
(T1621K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
TG
(R1661H)
Single nucleotide variant
(missense variant)
TG-related disorder
+2 more
GUncertain significance
TG
Single nucleotide variant
(intron variant)
TG-related disorder
GLikely benign
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TG
Single nucleotide variant
(intron variant)
TG-related disorder
+1 more
GLikely benign
TG
(D1838N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
TG
(T1910fs)
Deletion
(frameshift variant)
TG-related disorder
GLikely pathogenic
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TG
(M1974T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
TG
Single nucleotide variant
(splice acceptor variant)
TG-related disorder
GLikely pathogenic
TG
(R1999W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
TG
Single nucleotide variant
(intron variant)
TG-related disorder
GLikely benign
TG
(G2061R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(intron variant)
Iodotyrosyl coupling defect
+2 more
GConflicting classifications of pathogenicity
TG
(N2070S)
Single nucleotide variant
(missense variant)
TG-related disorder
GUncertain significance
TG
(S2132L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
TG
(R2208Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+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)
not provided
+1 more
GBenign
TG
Single nucleotide variant
(synonymous variant)
TG-related disorder
+1 more
GLikely benign
TG
Single nucleotide variant
(synonymous variant)
TG-related disorder
+1 more
GBenign/Likely benign
TG, SLA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
SLA, TG
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
SLA, TG
(W2501R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
TG
(R2530Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
TG
(L2547Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TG
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TG
(N2616I)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+2 more
GBenign/Likely benign
TG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TG
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
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