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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDHR5, CEND1
+20 more
Duplication
Neutral lipid storage myopathy
GUncertain significance
CDHR5, DEAF1
+11 more
Duplication
not provided
GUncertain significance
ANO9, B4GALNT4
+27 more
Duplication
Immunodeficiency 39
GUncertain significance
PTDSS2, RASSF7
+89 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
INS-IGF2, IRF7
+63 more
Duplication
Neuronal ceroid lipofuscinosis
GUncertain significance
CDHR5, CEND1
+17 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
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