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Links from MedGen

Items: 1 to 100 of 153

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TPO
Single nucleotide variant
(intron variant)
Deficiency of iodide peroxidase
GBenign
LOC126806104, TPO
(W700* +3 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
TPO
(R152K)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GLikely pathogenic
TPO
(L658* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
TPO
(E337K)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GLikely pathogenic
TPO
(N307T)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Duplication
Deficiency of iodide peroxidase
GLikely pathogenic
TPO
(R411W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
TPO
(R89*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
TPO
(C652R +2 more)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GLikely pathogenic
TPO
(G387R)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GLikely pathogenic
TPO
(E423* +2 more)
Single nucleotide variant
(nonsense)
Deficiency of iodide peroxidase
+1 more
GPathogenic
TPO
(E17fs)
Duplication
(frameshift variant)
not provided
GPathogenic
TPO
(G687R +3 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
+1 more
GPathogenic/Likely pathogenic
TPO
(S131P)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GLikely pathogenic
TPO
(G320S +1 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
+2 more
GPathogenic
TPO
(S594P +2 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(Q72*)
Single nucleotide variant
(nonsense)
Deficiency of iodide peroxidase
GPathogenic
TPO
(R438C)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(G410C +1 more)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Deletion
(inframe_deletion)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(Y599C +2 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GLikely pathogenic
TPO
Single nucleotide variant
(3 prime UTR variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GUncertain significance
TPO
Single nucleotide variant
(3 prime UTR variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(G747R +3 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(R673W +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
(R627H +2 more)
Single nucleotide variant
(missense 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)
Deficiency of iodide peroxidase
+1 more
GConflicting classifications of pathogenicity
TPO
Single nucleotide variant
(intron variant)
Deficiency of iodide peroxidase
+1 more
GConflicting classifications of pathogenicity
TPO
(D238Y)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(R206Q)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(5 prime UTR variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(L196S)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
+1 more
GUncertain significance
TPO
(A168T)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO, LOC126806104
(V729L +3 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
LOC126806104, TPO
Single nucleotide variant
(synonymous variant)
Deficiency of iodide peroxidase
GUncertain significance
LOC126806104, TPO
(I840M +3 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(R438H)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(G380S)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(synonymous variant)
TPO-related disorder
+1 more
GConflicting classifications of pathogenicity
TPO
(T116A)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(R89Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TPO
(P70A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TPO
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
(A346V)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(G302D)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(intron 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
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
(V803M +3 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(R673Q +3 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(D240G)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GLikely pathogenic
LOC126806104, TPO
(L825V +3 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(A495T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 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
(synonymous variant)
Deficiency of iodide peroxidase
+1 more
GConflicting classifications of pathogenicity
TPO
(L529F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
TPO
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
TPO
(A426G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
TPO
Single nucleotide variant
(synonymous variant)
TPO-related disorder
+2 more
GConflicting classifications of pathogenicity
TPO
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
(R712W +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TPO
(R361L)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
TPO
(C635fs +2 more)
Deletion
(frameshift variant +1 more)
Deficiency of iodide peroxidase
+1 more
GPathogenic
TPO
(G256fs)
Duplication
(frameshift variant)
Deficiency of iodide peroxidase
GPathogenic
TPO
(C808fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
ASXL1
(R693* +1 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
TPO
(N129fs)
Deletion
(frameshift variant)
not provided
GPathogenic
TPO
(A397fs)
Duplication
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
TPO
(R665Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
TPO
(H520Y +1 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
+7 more
GLikely pathogenic
TPO
Single nucleotide variant
(3 prime UTR variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(3 prime UTR variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
TPO
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
TPO
Duplication
(3 prime UTR variant)
Congenital hypothyroidism
+1 more
GUncertain significance
TPO
Single nucleotide variant
(3 prime UTR variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(intron variant)
Deficiency of iodide peroxidase
+1 more
GConflicting classifications of pathogenicity
LOC126806104, TPO
(P906L +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC126806104, TPO
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC126806104, TPO
(A901G +3 more)
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
(G842R +3 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
+1 more
GConflicting classifications of pathogenicity
TPO
(D834N +2 more)
Single nucleotide variant
(missense variant +1 more)
Deficiency of iodide peroxidase
GUncertain significance
TPO
Single nucleotide variant
(synonymous variant +1 more)
TPO-related disorder
+2 more
GConflicting classifications of pathogenicity
TPO
Single nucleotide variant
(synonymous variant +1 more)
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
(R769Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TPO
Single nucleotide variant
(synonymous variant)
Deficiency of iodide peroxidase
+1 more
GBenign
TPO
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
Single nucleotide variant
(intron variant)
Deficiency of iodide peroxidase
+1 more
GBenign
TPO
(Q738E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
TPO
(M727I +2 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
TPO
(M706V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TPO
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
(A654V +2 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
GUncertain significance
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