ClinVar Miner

List of variants in gene ALS2 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.-60-2A>G rs532217889 0.00006
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733 0.00002
NM_020919.4(ALS2):c.1867_1868del (p.Leu623fs) rs386134181 0.00001
NM_020919.4(ALS2):c.2221C>T (p.Arg741Ter) rs759408917 0.00001
NM_020919.4(ALS2):c.2737C>T (p.Arg913Ter) rs371140239 0.00001
NM_020919.4(ALS2):c.2992C>T (p.Arg998Ter) rs121908137 0.00001
NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter) rs1064797281 0.00001
NM_020919.4(ALS2):c.4626+1G>A rs1234882220 0.00001
NM_020919.4(ALS2):c.535C>T (p.Gln179Ter) rs746255868 0.00001
NM_020919.4(ALS2):c.575C>T (p.Pro192Leu) rs778003334 0.00001
NC_000002.11:g.(?_202587756)_(202589192_?)del
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_020919.3(ALS2):c.[1911C>A;4261C>T]
NM_020919.4(ALS2):c.1007_1008del (p.Ile336fs) rs386134175
NM_020919.4(ALS2):c.1044C>G (p.Tyr348Ter) rs1693726956
NM_020919.4(ALS2):c.1054_1061del (p.Leu352fs) rs1574786170
NM_020919.4(ALS2):c.114G>A (p.Trp38Ter)
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter) rs369577952
NM_020919.4(ALS2):c.138del (p.Ala47fs) rs386134173
NM_020919.4(ALS2):c.1425_1428del (p.Gly477fs) rs878855058
NM_020919.4(ALS2):c.1427_1428del (p.Glu476fs) rs386134176
NM_020919.4(ALS2):c.158_160del (p.Gly53del) rs2106102271
NM_020919.4(ALS2):c.1619G>A (p.Gly540Glu) rs386134178
NM_020919.4(ALS2):c.1622del (p.His541fs) rs2106074302
NM_020919.4(ALS2):c.1640+1G>A rs2106074229
NM_020919.4(ALS2):c.1652T>A (p.Leu551Ter) rs1693173657
NM_020919.4(ALS2):c.1921C>T (p.Gln641Ter) rs1553511680
NM_020919.4(ALS2):c.1999-2A>T rs386134182
NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter) rs730882255
NM_020919.4(ALS2):c.2016_2026del (p.Val673fs) rs1692492382
NM_020919.4(ALS2):c.2110C>T (p.Arg704Ter)
NM_020919.4(ALS2):c.2143C>T (p.Gln715Ter) rs121908139
NM_020919.4(ALS2):c.2417+1G>C rs1275973309
NM_020919.4(ALS2):c.2527C>T (p.Arg843Ter)
NM_020919.4(ALS2):c.2537_2538del (p.Asn846fs) rs386134183
NM_020919.4(ALS2):c.2580+2T>C rs2106023727
NM_020919.4(ALS2):c.2707dup (p.Met903fs) rs2106012637
NM_020919.4(ALS2):c.2713-2A>C rs2106011709
NM_020919.4(ALS2):c.275_276del (p.Tyr92fs) rs1693780539
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter) rs587777132
NM_020919.4(ALS2):c.2839C>T (p.Gln947Ter)
NM_020919.4(ALS2):c.2845_2854dup (p.His952fs) rs1553506317
NM_020919.4(ALS2):c.2880G>A (p.Trp960Ter)
NM_020919.4(ALS2):c.2980-2A>G rs386134184
NM_020919.4(ALS2):c.3070C>T (p.Gln1024Ter)
NM_020919.4(ALS2):c.3221G>A (p.Gly1074Asp) rs2106005994
NM_020919.4(ALS2):c.326del (p.Asn109fs) rs2106089798
NM_020919.4(ALS2):c.347G>A (p.Gly116Glu) rs2106089689
NM_020919.4(ALS2):c.3513-1G>A rs2105999102
NM_020919.4(ALS2):c.3513-2del rs2105999112
NM_020919.4(ALS2):c.3517delG rs1317051984
NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter) rs757972700
NM_020919.4(ALS2):c.3583G>T (p.Gly1195Ter) rs1574698048
NM_020919.4(ALS2):c.3619del (p.Lys1206_Met1207insTer) rs386134187
NM_020919.4(ALS2):c.3703-2A>C
NM_020919.4(ALS2):c.3703-2A>G rs1690532210
NM_020919.4(ALS2):c.3799dup (p.Ser1267fs)
NM_020919.4(ALS2):c.3829A>T (p.Lys1277Ter)
NM_020919.4(ALS2):c.4223T>A (p.Leu1408Ter) rs2105972075
NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter) rs1689931402
NM_020919.4(ALS2):c.4368del (p.Lys1457fs) rs2105969251
NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter) rs374047961
NM_020919.4(ALS2):c.4528C>T (p.Arg1510Ter) rs1391892163
NM_020919.4(ALS2):c.4544_4547dup (p.Ile1517fs) rs1337097412
NM_020919.4(ALS2):c.4573dup (p.Val1525fs) rs730882256
NM_020919.4(ALS2):c.460C>T (p.Gln154Ter)
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr) rs121908138
NM_020919.4(ALS2):c.4721del (p.Val1574fs) rs386134188
NM_020919.4(ALS2):c.4832G>A (p.Arg1611Gln) rs1689578912
NM_020919.4(ALS2):c.4838+1del rs1167814155
NM_020919.4(ALS2):c.4897C>T (p.Gln1633Ter) rs797044934
NM_020919.4(ALS2):c.553del (p.Thr185fs) rs386134174
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter) rs1574787779
NM_020919.4(ALS2):c.641T>G (p.Leu214Ter)
NM_020919.4(ALS2):c.735_738del (p.Glu246fs) rs1064793583
NM_020919.4(ALS2):c.864del (p.Val289fs) rs2106088185
NM_020919.4(ALS2):c.913del (p.Glu304_Leu305insTer) rs1574786641
NM_020919.4(ALS2):c.977del (p.Gly326fs)

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.