"GenomeConnect - Simons Searchlight"[submitter] AND "ASXL3"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 210364	NM_030632.3(ASXL3):c.1192_1195del (p.Thr398fs)	ASXL3 (T398fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 984871	NM_030632.3(ASXL3):c.1189C>T (p.Gln397Ter)	ASXL3 (Q397*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 984874	NM_030632.3(ASXL3):c.1207C>T (p.Gln403Ter)	ASXL3 (Q403*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 521261	NM_030632.3(ASXL3):c.1354del (p.Glu452fs)	ASXL3 (E452fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 417928	NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter)	ASXL3 (Q491*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 984873	NM_030632.3(ASXL3):c.1479_1480del (p.Pro494fs)	ASXL3 (P494fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 620449	NM_030632.3(ASXL3):c.1535T>A (p.Leu512Ter)	ASXL3 (L512*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 984868	NM_030632.3(ASXL3):c.1579dup (p.Gln527fs)	ASXL3 (Q527fs)	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 426466	NM_030632.3(ASXL3):c.1627_1628del (p.Leu543fs)	ASXL3 (L543fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 504223	NM_030632.3(ASXL3):c.1738G>T (p.Glu580Ter)	ASXL3 (E580*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 984877	NM_030632.3(ASXL3):c.1821del (p.Ala606_Cys607insTer)	ASXL3	Deletion (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 635047	NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs)	ASXL3 (S617fs)	Microsatellite (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic/Likely pathogenic
Select item 280574	NM_030632.3(ASXL3):c.1939dup (p.Thr647fs)	ASXL3 (T647fs)	Duplication (frameshift variant)	not provided	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 522818	NM_030632.3(ASXL3):c.3039+1G>A	ASXL3	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 429913	NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)	ASXL3 (R1036*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GPathogenic/Likely pathogenic
Select item 984875	NM_030632.3(ASXL3):c.3315_3318del (p.Thr1106fs)	ASXL3 (T1106fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 984876	NM_030632.3(ASXL3):c.3321_3325del (p.Lys1109fs)	ASXL3 (K1109fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
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 984869	NM_030632.3(ASXL3):c.3374_3377dup (p.Thr1127fs)	ASXL3 (T1127fs)	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 426517	NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter)	ASXL3 (S1155*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 984872	NM_030632.3(ASXL3):c.3500C>A (p.Ser1167Tyr)	ASXL3 (S1167Y)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 984878	NM_030632.3(ASXL3):c.3621dup (p.Pro1208fs)	ASXL3 (P1208fs)	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 451766	NM_030632.3(ASXL3):c.3964C>T (p.Gln1322Ter)	ASXL3 (Q1322*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 280684	NM_030632.3(ASXL3):c.4022_4023del (p.Val1341fs)	ASXL3 (V1341fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 547900	NM_030632.3(ASXL3):c.4072_4085del (p.Val1358fs)	ASXL3 (V1358fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 817452	NM_030632.3(ASXL3):c.4087_4088delinsG (p.Met1363fs)	ASXL3 (M1363fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 984870	NM_030632.3(ASXL3):c.4156del (p.Ser1386fs)	ASXL3 (S1386fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 984845	NM_030632.3(ASXL3):c.4164dup (p.Thr1389fs)	ASXL3 (T1389fs)	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 450046	NM_030632.3(ASXL3):c.4211_4212del (p.Thr1404fs)	ASXL3 (T1404fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 524030	NM_030632.3(ASXL3):c.4219_4220del (p.Leu1407fs)	ASXL3 (L1407fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 984803	NM_030632.3(ASXL3):c.4322C>G (p.Ser1441Ter)	ASXL3 (S1441*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
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 452589	NM_030632.3(ASXL3):c.4399C>T (p.Arg1467Ter)	ASXL3 (R1467*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder +2 more	GPathogenic
Select item 817642	NM_030632.3(ASXL3):c.4462_4465del (p.Thr1488fs)	ASXL3 (T1488fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 504200	NM_030632.3(ASXL3):c.4509_4513dup (p.Val1505fs)	ASXL3 (V1505fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 984846	NM_030632.3(ASXL3):c.4904dup (p.Gln1636fs)	ASXL3 (Q1636fs)	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 451162	NM_030632.3(ASXL3):c.6165del (p.Lys2055fs)	ASXL3 (K2055fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic

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Items: 38