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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EHMT1
(Q139fs +1 more)
Deletion
(frameshift variant)
Kleefstra syndrome 1
GPathogenic
EHMT1, LOC130003148
(R530* +2 more)
Single nucleotide variant
(nonsense)
Kleefstra syndrome 1
+1 more
GPathogenic