"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ASXL3"[gene] - ClinVar - NCBI

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Items: 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1236928	NM_030632.3(ASXL3):c.1995A>G (p.Arg665=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1174209	NM_030632.3(ASXL3):c.3324T>G (p.Ala1108=)	ASXL3	Single nucleotide variant (synonymous variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +2 more	GBenign/Likely benign
Select item 434427	NM_030632.3(ASXL3):c.3464C>T (p.Ser1155Leu)	ASXL3 (S1155L)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1191541	NM_030632.3(ASXL3):c.4817G>A (p.Arg1606Gln)	ASXL3 (R1606Q)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GBenign/Likely benign
Select item 975646	NM_030632.3(ASXL3):c.6359C>T (p.Ala2120Val)	ASXL3 (A2120V)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GBenign/Likely benign
Select item 1201651	NM_030632.3(ASXL3):c.6603C>T (p.Ala2201=)	ASXL3	Single nucleotide variant (synonymous variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GLikely benign