"3billion"[submitter] AND "ASXL3"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705471	NM_030632.3(ASXL3):c.1243G>T (p.Glu415Ter)	ASXL3 (E415*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 1320104	NM_030632.3(ASXL3):c.1269C>A (p.Cys423Ter)	ASXL3 (C423*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 1320195	NM_030632.3(ASXL3):c.1402G>T (p.Glu468Ter)	ASXL3 (E468*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 1320131	NM_030632.3(ASXL3):c.1864dup (p.Cys622fs)	ASXL3 (C622fs)	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 1320174	NM_030632.3(ASXL3):c.4403C>G (p.Ser1468Ter)	ASXL3 (S1468*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 2444182	NM_030632.3(ASXL3):c.4624del (p.Ala1542fs)	ASXL3 (A1542fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 1320244	NM_030632.3(ASXL3):c.4899T>A (p.Tyr1633Ter)	ASXL3 (Y1633*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 1705636	NM_030632.3(ASXL3):c.6684_6687dup (p.Cys2230fs)	ASXL3 (C2230fs)	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic