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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UNC80
Single nucleotide variant
(synonymous variant)
UNC80-related condition
+2 more
GBenign
UNC80
(A231T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
UNC80
(R253G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UNC80
(R671H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC121725110, UNC80
(N1272S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UNC80
(P1383A +2 more)
Single nucleotide variant
(missense variant)
UNC80-related condition
+1 more
GConflicting classifications of pathogenicity
UNC80
(L2406fs +2 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
UNC80
(S2755G +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
(W2834fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic/Likely pathogenic
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