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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126805616, PEX14
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 13A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
LOC126805616, PEX14
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC126805616, PEX14
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC126805616, PEX14
(A192T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126805616, PEX14
(A192G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
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