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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHAMP1
(P212fs)
Deletion
(frameshift variant)
intellectual disability with severe speech impairment
GPathogenic
CHAMP1
(R398*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic
CHAMP1
(Q590*)
Single nucleotide variant
(nonsense)
intellectual disability with severe speech impairment
GPathogenic
CHAMP1
(D622fs)
Deletion
(frameshift variant)
intellectual disability with severe speech impairment
GPathogenic
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