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Items: 1 to 100 of 199

  • The following term was not found in ClinVar: Methylphenylzinc.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TPO
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
TPO
Single nucleotide variant
(5 prime UTR variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(5 prime UTR variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(5 prime UTR variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(intron variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(intron variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
TPO
(E17fs)
Duplication
(frameshift variant)
not provided
GPathogenic
TPO
Single nucleotide variant
(synonymous variant)
Deficiency of iodide peroxidase
+2 more
GConflicting classifications of pathogenicity
TPO
Single nucleotide variant
(intron variant)
Deficiency of iodide peroxidase
+1 more
GConflicting classifications of pathogenicity
TPO
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TPO
(P70A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TPO
(Q72*)
Single nucleotide variant
(nonsense)
Deficiency of iodide peroxidase
GPathogenic
TPO
(R89*)
Single nucleotide variant
(nonsense)
Deficiency of iodide peroxidase
+1 more
GPathogenic
TPO
(R89Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TPO
(T116A)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(synonymous variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(N129fs)
Deletion
(frameshift variant)
not provided
GPathogenic
TPO
(S131P)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GLikely pathogenic
TPO
(P135H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
TPO
(A148V)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(R152K)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GLikely pathogenic
TPO
(P164H)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
(A168T)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(R175Q)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
+1 more
GConflicting classifications of pathogenicity
TPO
(L196S)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
+1 more
GUncertain significance
TPO
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
TPO
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
(R206Q)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(N217S)
Single nucleotide variant
(missense variant)
Hypothyroidism due to TSH receptor mutations
+2 more
GUncertain significance
TPO
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TPO
(D238Y)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(D240G)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GLikely pathogenic
TPO
(G256fs)
Duplication
(frameshift variant)
Deficiency of iodide peroxidase
GPathogenic
TPO
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
(A257S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
TPO
Single nucleotide variant
(synonymous variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(intron variant)
Deficiency of iodide peroxidase
+1 more
GConflicting classifications of pathogenicity
TPO
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of iodide peroxidase
+1 more
GConflicting classifications of pathogenicity
TPO
(G302D)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(N307T)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(E337K)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GLikely pathogenic
TPO
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of iodide peroxidase
+1 more
GBenign/Likely benign
TPO
(A346V)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
(R361L)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
+2 more
GConflicting classifications of pathogenicity
TPO
(A373S)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
TPO
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
(E378K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TPO
(G380S)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(G387R)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GLikely pathogenic
TPO
(A397fs)
Duplication
(frameshift variant +1 more)
Deficiency of iodide peroxidase
+1 more
GPathogenic/Likely pathogenic
TPO
(S398T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
TPO
(A426G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
TPO
(A432T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TPO
(R438C)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(R438H)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of iodide peroxidase
+2 more
GConflicting classifications of pathogenicity
TPO
Single nucleotide variant
(intron variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(intron variant)
Deficiency of iodide peroxidase
GBenign
TPO
(I447F +1 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GPathogenic
TPO
(Y453D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TPO
Deletion
(inframe_deletion)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(R491H +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TPO
(G320S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
TPO
(A495T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
(P326fs +1 more)
Deletion
(frameshift variant)
Deficiency of iodide peroxidase
GPathogenic
TPO
(H520Y +1 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
+7 more
GLikely pathogenic
TPO
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
TPO
(L529F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
TPO
(R540* +1 more)
Single nucleotide variant
(nonsense +1 more)
Deficiency of iodide peroxidase
+1 more
GPathogenic
TPO
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
TPO
(G410C +1 more)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(R411W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
TPO
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of iodide peroxidase
+1 more
GConflicting classifications of pathogenicity
TPO
(G590S +1 more)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GPathogenic
TPO
(E423* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
TPO
(V618M +2 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
+1 more
GBenign
TPO
Single nucleotide variant
(synonymous variant)
Deficiency of iodide peroxidase
+2 more
GConflicting classifications of pathogenicity
TPO
Single nucleotide variant
(synonymous variant)
Deficiency of iodide peroxidase
+1 more
GConflicting classifications of pathogenicity
TPO
Single nucleotide variant
(synonymous variant)
Deficiency of iodide peroxidase
+1 more
GConflicting classifications of pathogenicity
TPO
(R648Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TPO
(F596fs +2 more)
Duplication
(frameshift variant)
not provided
GPathogenic
TPO
(A654V +2 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(Q660E +2 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
+1 more
GPathogenic/Likely pathogenic
TPO
(R665W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TPO
(R665Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
TPO
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
TPO
Single nucleotide variant
(intron variant)
Deficiency of iodide peroxidase
+1 more
GConflicting classifications of pathogenicity
TPO
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
(R627H +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TPO
(R693W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TPO
(M706V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TPO
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
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