List of variants in gene ALS2 reported by GeneReviews

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020919.4(ALS2):c.1867_1868del (p.Leu623fs)	rs386134181	0.00001
NM_020919.4(ALS2):c.2992C>T (p.Arg998Ter)	rs121908137	0.00001
NM_020919.2(ALS2):c.[1825_1826insCAGTG];[3529G>T]
NM_020919.2(ALS2):c.[3565delG];[3624+5G>C]
NM_020919.3(ALS2):c.1472_1481delTTTCCCCCAG	rs387906316
NM_020919.4(ALS2):c.1007_1008del (p.Ile336fs)	rs386134175
NM_020919.4(ALS2):c.138del (p.Ala47fs)	rs386134173
NM_020919.4(ALS2):c.1427_1428del (p.Glu476fs)	rs386134176
NM_020919.4(ALS2):c.1619G>A (p.Gly540Glu)	rs386134178
NM_020919.4(ALS2):c.1999-2A>T	rs386134182
NM_020919.4(ALS2):c.2143C>T (p.Gln715Ter)	rs121908139
NM_020919.4(ALS2):c.2537_2538del (p.Asn846fs)	rs386134183
NM_020919.4(ALS2):c.2980-2A>G	rs386134184
NM_020919.4(ALS2):c.3619del (p.Lys1206_Met1207insTer)	rs386134187
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr)	rs121908138
NM_020919.4(ALS2):c.4721del (p.Val1574fs)	rs386134188
NM_020919.4(ALS2):c.553del (p.Thr185fs)	rs386134174

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.