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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNH1
(G348R +1 more)
Single nucleotide variant
(missense variant)
Zimmermann-Laband syndrome 1
GPathogenic
KCNH1
(R357Q +1 more)
Single nucleotide variant
(missense variant)
Temple-Baraitser syndrome
+4 more
GPathogenic/Likely pathogenic