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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP76, PSMG2
Single nucleotide variant
(synonymous variant +2 more)
CEP76-related disorder
GLikely benign
CEP76, PSMG2
Single nucleotide variant
(intron variant)
CEP76-related disorder
GLikely benign
CEP76, PSMG2
Single nucleotide variant
(synonymous variant +2 more)
CEP76-related disorder
GBenign
CEP76, PSMG2
(G128R +1 more)
Single nucleotide variant
(missense variant +2 more)
CEP76-related disorder
GBenign
CEP76, PSMG2
(S172N)
Single nucleotide variant
(missense variant +2 more)
CEP76-related disorder
GBenign
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