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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDEM2, MMP24-AS1-EDEM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ACSS2, ACTL10
+51 more
Deletion
Glutathione synthetase deficiency with 5-oxoprolinuria
GPathogenic
ACSS2, ACTL10
+53 more
Deletion
not provided
GPathogenic
ACSS2, ACTL10
+25 more
Deletion
Long QT syndrome
GUncertain significance
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