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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EHMT1
(R68fs +1 more)
Deletion
(frameshift variant)
Kleefstra syndrome 1
GPathogenic
EHMT1
(E363fs +2 more)
Deletion
(frameshift variant)
Kleefstra syndrome 1
GLikely pathogenic
EHMT1
(I611* +2 more)
Duplication
(nonsense)
Kleefstra syndrome 1
GLikely pathogenic
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