C4750837[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931362	NM_030632.3(ASXL3):c.3039+2T>G	ASXL3	Single nucleotide variant (splice donor variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 930730	NM_030632.3(ASXL3):c.3785_3786del (p.Ser1262fs)	ASXL3 (S1262fs)	Microsatellite (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic