"Baylor Genetics"[submitter] AND "ASXL3"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028388	NM_030632.3(ASXL3):c.314C>A (p.Thr105Lys)	ASXL3 (T105K)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2442230	NM_030632.3(ASXL3):c.1377_1378del (p.Glu459fs)	ASXL3 (E459fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1031441	NM_030632.3(ASXL3):c.1444del (p.Ser482fs)	ASXL3 (S482fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 441020	NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs)	ASXL3 (D660fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 1031442	NM_030632.3(ASXL3):c.3049del (p.Ser1017fs)	ASXL3 (S1017fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 279694	NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter)	ASXL3 (R1117*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GPathogenic/Likely pathogenic
Select item 520661	NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter)	ASXL3 (R1444*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1028389	NM_030632.3(ASXL3):c.4439C>T (p.Thr1480Met)	ASXL3 (T1480M)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 1028390	NM_030632.3(ASXL3):c.5096C>A (p.Ala1699Asp)	ASXL3 (A1699D)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 1028391	NM_030632.3(ASXL3):c.6107C>G (p.Pro2036Arg)	ASXL3 (P2036R)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1028392	NM_030632.3(ASXL3):c.6190A>G (p.Thr2064Ala)	ASXL3 (T2064A)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance