"3billion"[submitter] AND "ASXL1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 280245	NM_015338.6(ASXL1):c.1544_1545del (p.Val515fs)	ASXL1 (V454fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 1705316	NM_015338.6(ASXL1):c.2068_2069del (p.Asp690fs)	ASXL1 (D629fs +1 more)	Deletion (frameshift variant)	Myelodysplastic syndrome	GLikely pathogenic
Select item 1705710	NM_015338.6(ASXL1):c.3677_3678del (p.Leu1226fs)	ASXL1 (L1165fs +1 more)	Deletion (frameshift variant)	Bohring-Opitz syndrome	GLikely pathogenic

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