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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF22
(P148L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
KIF22
(R149L +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
DOC2A, GDPD3
+31 more
Deletion
Proximal 16p11.2 microdeletion syndrome
Grisk factor
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