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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX1
(G843D +2 more)
Single nucleotide variant
(missense variant)
PEX1-related condition
+10 more
GPathogenic
PEX1
(I643fs +2 more)
Duplication
(frameshift variant)
PEX1-RELATED DISORDERS
+9 more
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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