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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KDM5C
(G1191fs +2 more)
Deletion
(frameshift variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GPathogenic
KDM5C
(R198Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
KDM5C, LOC130068308
(I34fs)
Deletion
(frameshift variant +1 more)
Syndromic X-linked intellectual disability Claes-Jensen type
GLikely pathogenic
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