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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TANC2
Single nucleotide variant
(splice donor variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GPathogenic
LOC105371856, TANC2
(L1087V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TANC2
(Y1554H +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
ACE, AMZ2
+77 more
Copy number gain
not provided
GPathogenic
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