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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHKA
(F201L +5 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
+3 more
GLikely pathogenic
CHKA
(P176S +4 more)
Single nucleotide variant
(missense variant +2 more)
Microcephaly
+2 more
GLikely pathogenic
CHKA
(R141W +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly
+2 more
GLikely pathogenic
CHKA
(C6fs)
Duplication
(frameshift variant +2 more)
Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
+3 more
GLikely pathogenic
CHKA
(M1T)
Single nucleotide variant
(missense variant +3 more)
Microcephaly
+2 more
GUncertain significance
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