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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASXL3
(R301fs)
Deletion
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
ASXL3
(S617fs)
Microsatellite
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic/Likely pathogenic
ASXL3
Insertion
(frameshift variant)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
GPathogenic
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