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Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNPO3
(A914V +7 more)
Single nucleotide variant
(missense variant +2 more)
TNPO3-related condition
+2 more
GConflicting classifications of pathogenicity
TNPO3
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GConflicting classifications of pathogenicity
TNPO3
(T903S +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
TNPO3
(V888I +7 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GUncertain significance
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GBenign
TNPO3
(V885M +7 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GUncertain significance
TNPO3
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+3 more
GBenign
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GConflicting classifications of pathogenicity
TNPO3
(W871R +7 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GUncertain significance
TNPO3
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GConflicting classifications of pathogenicity
TNPO3
(W858R +7 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GUncertain significance
TNPO3
(Y784fs +7 more)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
TNPO3
(R818W +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TNPO3
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GUncertain significance
TNPO3
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
TNPO3
(I776V +7 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+2 more
GConflicting classifications of pathogenicity
TNPO3
(R769Q +7 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GConflicting classifications of pathogenicity
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
TNPO3
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GConflicting classifications of pathogenicity
TNPO3
Deletion
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+2 more
GBenign
TNPO3
(E714V +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TNPO3
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GConflicting classifications of pathogenicity
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
TNPO3
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TNPO3
(A654V +6 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GUncertain significance
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GConflicting classifications of pathogenicity
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GConflicting classifications of pathogenicity
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
TNPO3
(I604V +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GUncertain significance
TNPO3
(R546C +5 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GUncertain significance
TNPO3
(Q536P +5 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GUncertain significance
TNPO3
(K521R +5 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GUncertain significance
TNPO3
(S517A +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TNPO3
(C511R +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TNPO3
(R494Q +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TNPO3
(V485I +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TNPO3
(R468H +5 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GUncertain significance
TNPO3
(N456S +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
TNPO3
(N455K +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TNPO3
(L486F)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GConflicting classifications of pathogenicity
TNPO3
(D395E +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TNPO3
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GConflicting classifications of pathogenicity
TNPO3
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GConflicting classifications of pathogenicity
TNPO3
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
TNPO3
(E325D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TNPO3
(R322Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TNPO3
(R322* +2 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GUncertain significance
TNPO3
(G315R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TNPO3
(C312S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GConflicting classifications of pathogenicity
TNPO3
(D288H +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GUncertain significance
TNPO3
(R286H +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GConflicting classifications of pathogenicity
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GConflicting classifications of pathogenicity
TNPO3
(Q268K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TNPO3
(D235V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TNPO3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TNPO3
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GConflicting classifications of pathogenicity
TNPO3
(G192R +1 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GUncertain significance
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TNPO3
(R160* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
TNPO3
(I146N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TNPO3
(A111V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GConflicting classifications of pathogenicity
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
TNPO3
(T92I)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GConflicting classifications of pathogenicity
TNPO3
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+2 more
GConflicting classifications of pathogenicity
TNPO3
(R54W)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GUncertain significance
TNPO3
Single nucleotide variant
(intron variant)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+2 more
GConflicting classifications of pathogenicity
LOC129999289, TNPO3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
LOC129999289, TNPO3
(V15A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
TNPO3, LOC129999289
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC129999289, TNPO3
(M1T)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
LOC129999289, TNPO3
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GBenign/Likely benign
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