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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASXL3
(E368*)
Single nucleotide variant
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GLikely pathogenic
ASXL3
(L1407fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic