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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UNC119
(R130W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
UNC119
(P116L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
UNC119
(P103H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
UNC119
(P197A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
UNC119
(Q170R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
UNC119
(L140R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
UNC119
(T134M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
UNC119
(N124S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
UNC119
(R24W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
UNC119
(R94Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
UNC119
(R94W)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
UNC119
(G73S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
UNC119
(R70W)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
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