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Items: 46

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNPO3
(T849A +7 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GConflicting classifications of pathogenicity
TNPO3
(P782R +7 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(D765G +7 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GUncertain significance
TNPO3
(Q731R +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TNPO3
(C665G +7 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(E651D +7 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(V630I +7 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(R593W +6 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(I576T +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TNPO3
(I604V +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TNPO3
(E515K +6 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(L510F +6 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(I495M +5 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(N491S +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GUncertain significance
TNPO3
(R483Q +5 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(V480L +5 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(K521R +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
TNPO3
(G460R +5 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(T426fs +5 more)
Duplication
(frameshift variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GLikely pathogenic
TNPO3
(V473I +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TNPO3
(R468C +5 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(M368V +3 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GUncertain significance
TNPO3
(I321V +2 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GConflicting classifications of pathogenicity
TNPO3
(A283S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TNPO3
(E325D +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GUncertain significance
TNPO3
(R322Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+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
(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)
not provided
+1 more
GConflicting classifications of pathogenicity
TNPO3
(R238C +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TNPO3
(E229D +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GConflicting classifications of pathogenicity
TNPO3
(L215W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TNPO3
(Y206C +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GUncertain significance
TNPO3
(S238L +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(K223fs +1 more)
Deletion
(frameshift variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(D215N +1 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(S207G +1 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(S178N +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(F175L +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(I161V +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(S158fs +1 more)
Deletion
(frameshift variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(M67I)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
TNPO3
(Q55*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GPathogenic
TNPO3
(R54W)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
+1 more
GUncertain significance
LOC129999289, TNPO3
(G3R)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1F
GUncertain significance
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