C4750837[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 974836	NM_030632.3(ASXL3):c.3592_3593insGAT (p.Leu1198Ter)	ASXL3 (L1198*)	Insertion (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 1334032	NM_030632.3(ASXL3):c.5798A>G (p.Gln1933Arg)	ASXL3 (Q1933R)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance