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Items: 1 to 100 of 236

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TG
(T9I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(E39G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(T40K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(V49M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(R88Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(S115F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(P118T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(A127P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(R159Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(R169H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(R170H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(R170P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(M190T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(K195E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(S222I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(R305W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(R321Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(A327T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(Q331H)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+2 more
GUncertain significance
TG
(T332M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(G343R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TG
(R350Q)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(F377L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(D387E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(M425V)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(E442G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TG
(R455H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TG
(A457V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(L510S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TG
(S530F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(T543S)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+3 more
GUncertain significance
TG
(V549M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(G596R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(T601M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TG
(T621M)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(N640S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(R668C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(M673T)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(Y704F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(I720T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(P727L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(Q736H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(S749T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(S749C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(M751V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(N775H)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(E779K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(M807V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(L819P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(G828D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(R854W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TG
(P880R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TG
(P880L)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(E903D)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(E907Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TG
(K917N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(P919S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(T920K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(G923R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(R931G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(E938K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(E940A)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(R950P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(P974L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(R979W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(R988S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TG
(I994V)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+2 more
GConflicting classifications of pathogenicity
TG
(R995G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(R995C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(R995H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(A997E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(Q1006E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(R1008L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(R1023G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(A1033V)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(R1066C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TG
(P1074L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(P1106S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(E1113K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(G1121E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TG
(E1133K)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+2 more
GUncertain significance
TG
(A1168T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(C1190Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(P1208S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(P1208L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(E1211A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(A1221V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TG
(T1233A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(P1237T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(G1269R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TG
(P1284T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(P1302L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(G1303D)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TG
(D1323E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(R1328H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
TG
(C1331F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(Q1332H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TG
(I1333M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TG
(F1338L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TG
(S1351A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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