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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT, ABCA3
+822 more
Copy number gain
See cases
GPathogenic
EEF2KMT, ELOB
+917 more
Copy number gain
See cases
GPathogenic
ABAT, ABCA3
+843 more
Copy number gain
See cases
GPathogenic
ABAT, ABCA3
+926 more
Copy number gain
See cases
GPathogenic
ABAT, ABCC1
+852 more
Copy number gain
See cases
GPathogenic
LOC112486224, LOC112486225
+58 more
Copy number gain
See cases
GUncertain significance
LOC130058406, LOC130058407
+33 more
Copy number loss
Autism spectrum disorder
GPathogenic
GRIN2A, HAPSTR1
+21 more
Copy number gain
See cases
GLikely pathogenic
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