List of variants in gene ASXL1 reported as uncertain significance for central nervous system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_015338.6(ASXL1):c.3351C>A (p.Pro1117=)	rs373603259	0.00029
NM_015338.6(ASXL1):c.1556_1557del	rs770877952	0.00026
NM_015338.6(ASXL1):c.4493C>T (p.Thr1498Met)	rs150119795	0.00024
NM_015338.6(ASXL1):c.1589C>T (p.Ala530Val)	rs988568801	0.00002
NM_015338.6(ASXL1):c.3401C>T (p.Pro1134Leu)	rs367744979	0.00002
NM_015338.6(ASXL1):c.1387A>G (p.Ser463Gly)	rs1161459110	0.00001
NM_015338.6(ASXL1):c.-88GCC[5]	rs886056593
NM_015338.6(ASXL1):c.1073A>G (p.Tyr358Cys)
NM_015338.6(ASXL1):c.1225A>G (p.Lys409Glu)	rs2011593291
NM_015338.6(ASXL1):c.1610A>G (p.Glu537Gly)	rs2123268579
NM_015338.6(ASXL1):c.1693G>C (p.Glu565Gln)	rs2123271125
NM_015338.6(ASXL1):c.1928G>C (p.Gly643Ala)	rs201649676
NM_015338.6(ASXL1):c.2029C>T (p.Pro677Ser)	rs2145361163
NM_015338.6(ASXL1):c.2171T>C (p.Leu724Pro)
NM_015338.6(ASXL1):c.2309C>T (p.Ser770Leu)
NM_015338.6(ASXL1):c.2878T>G (p.Trp960Gly)
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del)	rs762939072
NM_015338.6(ASXL1):c.3302T>A (p.Val1101Glu)	rs2145379665
NM_015338.6(ASXL1):c.3425A>G (p.Gln1142Arg)	rs2011847101
NM_015338.6(ASXL1):c.3460G>A (p.Gly1154Ser)	rs199571804
NM_015338.6(ASXL1):c.3506C>T (p.Ser1169Phe)
NM_015338.6(ASXL1):c.3565G>A (p.Ala1189Thr)
NM_015338.6(ASXL1):c.3847G>A (p.Gly1283Ser)
NM_015338.6(ASXL1):c.3915T>G (p.Phe1305Leu)	rs2145389443
NM_015338.6(ASXL1):c.3946C>G (p.Arg1316Gly)	rs773951405
NM_015338.6(ASXL1):c.4046T>C (p.Val1349Ala)
NM_015338.6(ASXL1):c.4109AGA[1] (p.Lys1371del)	rs752856195
NM_015338.6(ASXL1):c.4136A>C (p.Lys1379Thr)
NM_015338.6(ASXL1):c.4150A>G (p.Asn1384Asp)
NM_015338.6(ASXL1):c.4204A>G (p.Met1402Val)
NM_015338.6(ASXL1):c.4281_4282delinsGC (p.Ser1428Pro)	rs2145394485
NM_015338.6(ASXL1):c.4282TCT[1] (p.Ser1429del)	rs1203207717
NM_015338.6(ASXL1):c.453C>A (p.Ser151Arg)	rs750955319
NM_015338.6(ASXL1):c.4624_4626TAA[1] (p.Ter1542_Ter(1542_?)(?))	rs2145398075

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