"Clinical Genetics and Genomics, Karolinska University Hospital"[submi - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 429913	NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)	ASXL3 (R1036*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GPathogenic/Likely pathogenic
Select item 522179	NM_030632.3(ASXL3):c.4144C>T (p.Gln1382Ter)	ASXL3 (Q1382*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic