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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCF20
(S1482fs)
Duplication
(frameshift variant)
Developmental delay with variable intellectual impairment and behavioral abnormalities
GPathogenic
TCF20
(D1315fs)
Microsatellite
(frameshift variant)
Developmental delay with variable intellectual impairment and behavioral abnormalities
GLikely pathogenic
TCF20
(G734*)
Single nucleotide variant
(nonsense)
Developmental delay with variable intellectual impairment and behavioral abnormalities
GPathogenic
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