"Genome-Nilou Lab"[submitter] AND "ASXL3"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1273037	NM_030632.3(ASXL3):c.137+66G>A	ASXL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1290602	NM_030632.3(ASXL3):c.195G>A (p.Gly65=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1192335	NM_030632.3(ASXL3):c.246+64G>T	ASXL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192336	NM_030632.3(ASXL3):c.356-83C>G	ASXL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1246157	NM_030632.3(ASXL3):c.514T>C (p.Ser172Pro)	ASXL3 (S172P)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +2 more	GBenign/Likely benign
Select item 1192337	NM_030632.3(ASXL3):c.716-49G>A	ASXL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192338	NM_030632.3(ASXL3):c.976+78T>C	ASXL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1275032	NM_030632.3(ASXL3):c.977-78A>G	ASXL3	Single nucleotide variant (intron variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GBenign
Select item 1287074	NM_030632.3(ASXL3):c.1082+10A>T	ASXL3	Single nucleotide variant (intron variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GBenign
Select item 1296058	NM_030632.3(ASXL3):c.1083-75A>G	ASXL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 778150	NM_030632.3(ASXL3):c.1116C>T (p.Leu372=)	ASXL3	Single nucleotide variant (synonymous variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GBenign/Likely benign
Select item 445897	NM_030632.3(ASXL3):c.1409A>C (p.His470Pro)	ASXL3 (H470P)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GBenign/Likely benign
Select item 210366	NM_030632.3(ASXL3):c.1654C>T (p.His552Tyr)	ASXL3 (H552Y)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +2 more	GBenign/Likely benign
Select item 1257691	NM_030632.3(ASXL3):c.1890G>A (p.Gly630=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 210370	NM_030632.3(ASXL3):c.2457T>C (p.Ala819=)	ASXL3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 780477	NM_030632.3(ASXL3):c.2511C>T (p.Thr837=)	ASXL3	Single nucleotide variant (synonymous variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GBenign
Select item 1261189	NM_030632.3(ASXL3):c.2731G>A (p.Val911Met)	ASXL3 (V911M)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +2 more	GBenign
Select item 1192339	NM_030632.3(ASXL3):c.2861A>G (p.Asn954Ser)	ASXL3 (N954S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 389938	NM_030632.3(ASXL3):c.2965C>G (p.Arg989Gly)	ASXL3 (R989G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1271875	NM_030632.3(ASXL3):c.3162C>T (p.Leu1054=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided +2 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 445597	NM_030632.3(ASXL3):c.3389C>G (p.Pro1130Arg)	ASXL3 (P1130R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1268012	NM_030632.3(ASXL3):c.3465G>A (p.Ser1155=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1193089	NM_030632.3(ASXL3):c.3555T>C (p.Ser1185=)	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 1266822	NM_030632.3(ASXL3):c.4036A>G (p.Ile1346Val)	ASXL3 (I1346V)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GBenign
Select item 1183931	NM_030632.3(ASXL3):c.4239C>T (p.Val1413=)	ASXL3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1246475	NM_030632.3(ASXL3):c.5001T>G (p.Pro1667=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 377349	NM_030632.3(ASXL3):c.5002G>A (p.Val1668Met)	ASXL3 (V1668M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1175100	NM_030632.3(ASXL3):c.5122A>G (p.Met1708Val)	ASXL3 (M1708V)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GBenign
Select item 434424	NM_030632.3(ASXL3):c.5173G>A (p.Asp1725Asn)	ASXL3 (D1725N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1186352	NM_030632.3(ASXL3):c.5991A>G (p.Lys1997=)	ASXL3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 769440	NM_030632.3(ASXL3):c.6072T>C (p.Pro2024=)	ASXL3	Single nucleotide variant (synonymous variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GBenign/Likely benign
Select item 218805	NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg)	ASXL3 (L2067R)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +2 more	GBenign/Likely benign

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Items: 33