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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EHMT1, LOC130003141
+1 more
Duplication
Kleefstra syndrome 1
GPathogenic
EHMT1
(G839V +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GLikely pathogenic