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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TANC2
(L280fs +1 more)
Duplication
(frameshift variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GPathogenic
LOC105371856, TANC2
(Y878* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GPathogenic
TANC2
(R1700* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GLikely pathogenic
MARCHF10, MRC2
+1 more
Copy number loss
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
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