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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KDM5C
(E1131fs +2 more)
Microsatellite
(frameshift variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
+3 more
GPathogenic
KDM5C
(R599C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic