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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HUWE1
Single nucleotide variant
(synonymous variant)
HUWE1-related disorder
+2 more
GConflicting classifications of pathogenicity
HUWE1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
HUWE1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
HUWE1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
HUWE1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
HUWE1, LOC126863263
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HUWE1
(T1028A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
HUWE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HUWE1
(D252N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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