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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC01780, LINC02868
+563 more
Copy number gain
See cases
GPathogenic
ADORA3, AHCYL1
+391 more
Copy number gain
See cases
GPathogenic
TAFA3, WNT2B
+61 more
Copy number gain
See cases
GUncertain significance
CAPZA1, LINC01356
+27 more
Copy number gain
See cases
GLikely benign
LINC01356, LINC01357
+32 more
Copy number gain
See cases
GUncertain significance
SLC16A1, SLC16A1-AS1
(R313*)
Single nucleotide variant
(nonsense)
Ketoacidosis due to monocarboxylate transporter-1 deficiency
+1 more
GPathogenic
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