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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126805616, PEX14
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 13A (Zellweger)
+1 more
GBenign
LOC126805616, PEX14
(V173F)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder, complementation group K
GUncertain significance
LOC126805616, PEX14
(A193T)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder, complementation group K
+1 more
GUncertain significance
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