U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 325

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TG
(W899C)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
Single nucleotide variant
(splice donor variant)
Iodotyrosyl coupling defect
GLikely pathogenic
TG
(Y2184N)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(C2281Y)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(A2613fs)
Duplication
(frameshift variant)
Iodotyrosyl coupling defect
GLikely pathogenic
TG
(R2408W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TG
(F2407S)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R2691C)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
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
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(R1530Q)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(D1014N)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TG
(N484I)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R979Q)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(S747T)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R2532Q)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(E1134D)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(S2092P)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(M425V)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(R1250C)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(Q771*)
Single nucleotide variant
(nonsense)
Iodotyrosyl coupling defect
GLikely pathogenic
TG
(W2062*)
Single nucleotide variant
(nonsense)
Iodotyrosyl coupling defect
GPathogenic
TG
(S2204fs)
Deletion
(frameshift variant)
Iodotyrosyl coupling defect
GPathogenic
TG
(M425T)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(M1I)
Single nucleotide variant
(missense variant +1 more)
Iodotyrosyl coupling defect
GUncertain significance
TG
Single nucleotide variant
(splice donor variant)
Iodotyrosyl coupling defect
GPathogenic
TG
(I1059T)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
SLA, TG
(W2501Q)
Inversion
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TG
Single nucleotide variant
(intron variant)
Iodotyrosyl coupling defect
+1 more
GBenign
TG
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TG
Single nucleotide variant
(intron variant)
Iodotyrosyl coupling defect
+1 more
GBenign
TG
Single nucleotide variant
(intron variant)
Iodotyrosyl coupling defect
+1 more
GBenign
TG
(R2044L)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+2 more
GUncertain significance
TG
(R2555C)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(P880L)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(R320C)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(W2685*)
Single nucleotide variant
(nonsense)
Iodotyrosyl coupling defect
GPathogenic
TG
(V2330M)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R159*)
Single nucleotide variant
(nonsense)
Iodotyrosyl coupling defect
+1 more
GPathogenic/Likely pathogenic
TG
(Y759C)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(W1050L)
Single nucleotide variant
(missense variant)
Autoimmune thyroid disease, susceptibility to, 3
+3 more
GUncertain significance
TG
(C2264Y)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GLikely pathogenic
TG
(W16*)
Single nucleotide variant
(nonsense)
Iodotyrosyl coupling defect
GPathogenic
TG
(T2057N)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(D2001N)
Single nucleotide variant
(missense variant)
Autoimmune thyroid disease, susceptibility to, 3
+2 more
GUncertain significance
TG
(I1989V)
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
(E940A)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(L930F)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(M673T)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(G653D)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
(T621M)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(P612R)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(S163N)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R152H)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+3 more
GConflicting classifications of pathogenicity
TG
(R152C)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
SLA, TG
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
Single nucleotide variant
(intron variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R2379H)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
(R2378W)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(D2553N)
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
(Q2544H)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(F2539L)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R2532W)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(Q2266R)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(A2257V)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
Single nucleotide variant
(intron 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
GConflicting classifications of pathogenicity
TG
(R1136Q)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
TG
Single nucleotide variant
(synonymous variant)
Iodotyrosyl coupling defect
+1 more
GConflicting classifications of pathogenicity
TG
(P588T)
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
(T543S)
Single nucleotide variant
(missense variant)
TG-related disorder
+2 more
GUncertain significance
TG
(V129I)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(P118L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(Q2227H)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R2208W)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(P2202R)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+2 more
GUncertain significance
TG
(R2177H)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R2177C)
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
(T1852A)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R1792H)
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
(A1419V)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(A1419E)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(K1415Q)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(R1066H)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GLikely benign
TG
(F1058Y)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(Q830E)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GLikely benign
TG
(G815E)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
TG
(R455H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TG
(E442G)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(E54Q)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
GUncertain significance
Format
Items per page
Sort by
Choose Destination