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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SIN3A
(T1218S)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GConflicting classifications of pathogenicity
SIN3A
(I1016fs)
Microsatellite
(frameshift variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GLikely pathogenic
SIN3A
Single nucleotide variant
(splice acceptor variant)
SIN3A-related intellectual disability syndrome due to a point mutation
GLikely pathogenic
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