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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAF1
(V218M +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability
GLikely pathogenic
TAF1
(R977L +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability
GUncertain significance
TAF1
(R1041C +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability
GLikely pathogenic
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