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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMLHE
(I321fs)
Microsatellite
(frameshift variant)
Epsilon-trimethyllysine hydroxylase deficiency
GPathogenic
BRCC3, CLIC2
+22 more
Copy number loss
not provided
GLikely pathogenic
ABCD1, ADGRG4
+160 more
Copy number gain
not provided
GPathogenic
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