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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX11B
(Q28* +1 more)
Single nucleotide variant
(nonsense +1 more)
Peroxisome biogenesis disorder 14B
GLikely pathogenic
PEX11B
(M1V)
Single nucleotide variant
(missense variant +2 more)
Peroxisome biogenesis disorder 14B
GPathogenic/Likely pathogenic