"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024543	NM_030632.3(ASXL3):c.1220_1226dup (p.Ser410fs)	ASXL3 (S410fs)	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 1285539	NM_030632.3(ASXL3):c.1714del (p.Lys571_Ile572insTer)	ASXL3	Deletion (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 3024523	NM_030632.3(ASXL3):c.2127del (p.Leu710fs)	ASXL3 (L710fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 982886	NM_030632.3(ASXL3):c.2672A>G (p.Asp891Gly)	ASXL3 (D891G)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 1285433	NM_030632.3(ASXL3):c.3352dup (p.Ala1118fs)	ASXL3 (A1118fs)	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 976033	NM_030632.3(ASXL3):c.3423_3429del (p.Asn1141fs)	ASXL3 (N1141fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GConflicting classifications of pathogenicity
Select item 976381	NM_030632.3(ASXL3):c.3944C>G (p.Ser1315Ter)	ASXL3 (S1315*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 817954	NM_030632.3(ASXL3):c.4336_4337del (p.Arg1446fs)	ASXL3 (R1446fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GConflicting classifications of pathogenicity
Select item 817642	NM_030632.3(ASXL3):c.4462_4465del (p.Thr1488fs)	ASXL3 (T1488fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GConflicting classifications of pathogenicity