A total 168 pathogenic variants reported in gene arachidonate 12-lipoxygenase, 12R type (ALOX12B)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001139.3(ALOX12B):c.1277T>C (p.Leu426Pro) SNV
Germline		 Chr17:8076742 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA253765 rs_137853023

2 SubmittersRCV000006456
NM_001139.3(ALOX12B):c.1734C>A (p.His578Gln) SNV
Germline		 Chr17:8073678 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA253766 rs_137853024

2 SubmittersRCV000006457
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp) SNV
Germline		 Chr17:8086028 Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA261161 rs_397514526

5 SubmittersRCV000032736RCV003992165
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter) SNV
Germline		 Chr17:8076725 Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA261162 rs_397514527

4 SubmittersRCV000032737RCV000760415
NM_001139.3(ALOX12B):c.2036G>T (p.Arg679Leu) SNV
Germline		 Chr17:8072841 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA261164 rs_397514528

2 SubmittersRCV000032738
NM_001139.3(ALOX12B):c.1180G>A (p.Glu394Lys) SNV
Germline		 Chr17:8077085 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA261165 rs_397514529

2 SubmittersRCV000032739
NM_001139.3(ALOX12B):c.353-1G>A SNV
Germline		 Chr17:8081188 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397996590 rs_1598181810

1 SubmittersRCV000032742
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp) SNV
Germline		 Chr17:8075607 Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 2
Condition: not provided
Congenital ichthyosiform erythroderma
Congenital nonbullous ichthyosiform erythroderma
Lamellar ichthyosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA261171 rs_397514532

8 SubmittersRCV000032743RCV000414417RCV000626762RCV002509181
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys) SNV
Germline		 Chr17:8075687 Pathogenic Autosomal recessive congenital ichthyosis 2
Condition: not provided
Ichthyosis
Lamellar ichthyosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA261173 rs_199766569

16 SubmittersRCV000032744RCV000413764RCV000414880RCV002222361
NM_001139.3(ALOX12B):c.199A>T (p.Ile67Phe) SNV
Germline		 Chr17:8086169 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA261174 rs_397514533

2 SubmittersRCV000032745
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) SNV
Germline		 Chr17:8075670 Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA277196 rs_199545653

7 SubmittersRCV000193750RCV000421593
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu) SNV
Germline		 Chr17:8073284 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive congenital ichthyosis 2
Lamellar ichthyosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8367177 rs_752509098

7 SubmittersRCV000255637RCV001289939RCV003155138
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys) SNV
Germline		 Chr17:8077109 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive congenital ichthyosis 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8367385 rs_750066836

6 SubmittersRCV000255072RCV001289511
NM_001139.3(ALOX12B):c.252C>A (p.Cys84Ter) SNV
Germline		 Chr17:8086116 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA10603473 rs_886041394

1 SubmittersRCV000267897
NM_001139.3(ALOX12B):c.135T>C (p.Phe45=) SNV
Germline		 Chr17:8087308 Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2
Condition: not provided
ALOX12B-related disorder		 Criteria Provided
Conflicting Classifications
 CA8367805 rs_117483056

4 SubmittersRCV000276430RCV000887907RCV003910248
NM_001139.3(ALOX12B):c.1655-9G>A SNV
Germline		 Chr17:8073766 Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8367217 rs_751773510

2 SubmittersRCV000261608RCV000974545
NM_001139.3(ALOX12B):c.528-8C>T SNV
Germline		 Chr17:8080788 Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8367618 rs_200448967

2 SubmittersRCV000360100RCV000903104
NM_001139.3(ALOX12B):c.301G>A (p.Ala101Thr) SNV
Germline		 Chr17:8086067 Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8367715 rs_200663524

3 SubmittersRCV000280497RCV003765890
NM_001139.3(ALOX12B):c.144G>A (p.Gly48=) SNV
Germline		 Chr17:8087299 Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8367801 rs_146260899

2 SubmittersRCV000367116RCV003884475
NM_001139.3(ALOX12B):c.39C>T (p.Asp13=) SNV
Germline		 Chr17:8087404 Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2
Condition: not provided
ALOX12B-related disorder		 Criteria Provided
Conflicting Classifications
 CA8367819 rs_201251213

3 SubmittersRCV000318545RCV000982772RCV003950110
NM_001139.3(ALOX12B):c.1394G>T (p.Gly465Val) SNV
Germline		 Chr17:8076313 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive congenital ichthyosis 2
ALOX12B-related disorder		 Criteria Provided
Conflicting Classifications
 CA8367313 rs_145344421

3 SubmittersRCV000910551RCV000397420RCV003912358
NM_001139.3(ALOX12B):c.530G>A (p.Trp177Ter) SNV
Germline		 Chr17:8080778 Pathogenic Condition: not provided
Autosomal recessive congenital ichthyosis 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043057 rs_959284348

2 SubmittersRCV000413742RCV005027475
NM_001139.3(ALOX12B):c.1859C>A (p.Pro620Gln) SNV
Germline		 Chr17:8073215 Conflicting classifications of pathogenicity Ichthyosis
Autosomal recessive congenital ichthyosis 2
not specified		 Criteria Provided
Conflicting Classifications
 CA8367165 rs_780420901

3 SubmittersRCV000414766RCV001289513RCV005238969
NM_001139.3(ALOX12B):c.1163C>T (p.Ala388Val) SNV
Germline		 Chr17:8077102 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive congenital ichthyosis 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8367380 rs_202128350

3 SubmittersRCV000440598RCV001289950
NM_001139.3(ALOX12B):c.397A>G (p.Arg133Gly) SNV
Germline		 Chr17:8081143 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA397996365 rs_1085307988

1 SubmittersRCV000489870
NM_001139.3(ALOX12B):c.527+2T>G SNV
Germline		 Chr17:8080882 Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 2 Criteria Provided
Multiple Submitters
No Conflicts
 CA397995635 rs_1555643304

2 SubmittersRCV000504018
NM_001139.3(ALOX12B):c.353-2A>G SNV
Germline		 Chr17:8081189 Pathogenic Autosomal recessive congenital ichthyosis 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8367693 rs_775524204

3 SubmittersRCV000504373RCV003766860
NM_001139.3(ALOX12B):c.166C>T (p.Gln56Ter) SNV
Germline		 Chr17:8086202 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA8367739 rs_764105296

1 SubmittersRCV000522841
NM_001139.3(ALOX12B):c.928-2A>G SNV
Germline		 Chr17:8079541 Pathogenic/Likely pathogenic Condition: not provided
Lamellar ichthyosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397993510 rs_1567982673

3 SubmittersRCV002535648RCV003226390
NM_001139.3(ALOX12B):c.1697A>G (p.Tyr566Cys) SNV
Germline		 Chr17:8073715 Likely pathogenic Autosomal recessive congenital ichthyosis 2 Criteria Provided
Single Submitter
 CA397987797 rs_1567980596

1 SubmittersRCV000782410
NM_001139.3(ALOX12B):c.1325G>T (p.Arg442Leu) SNV
Germline		 Chr17:8076694 Likely pathogenic Autosomal recessive congenital ichthyosis 2 Criteria Provided
Single Submitter
 CA397991337 rs_1028050037

1 SubmittersRCV000782407
NM_001139.3(ALOX12B):c.338T>C (p.Leu113Pro) SNV
Germline		 Chr17:8086030 Likely pathogenic Autosomal recessive congenital ichthyosis 2 Criteria Provided
Single Submitter
 CA397998880 rs_1567985231

1 SubmittersRCV000782406
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu) SNV
Germline		 Chr17:8087360 Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2 Criteria Provided
Conflicting Classifications
 CA398000697 rs_1567985822

3 SubmittersRCV000782405
NM_001139.3(ALOX12B):c.1566G>T (p.Pro522=) SNV
Germline		 Chr17:8075683 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA497758105 rs_936466427

2 SubmittersRCV000791166
NM_001139.3(ALOX12B):c.1497C>T (p.Arg499=) SNV
Germline		 Chr17:8076210 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive congenital ichthyosis 2		 Criteria Provided
Conflicting Classifications
 CA8367289 rs_371016744

2 SubmittersRCV000921467RCV001127392
NM_001139.3(ALOX12B):c.1101C>T (p.Pro367=) SNV
Germline		 Chr17:8077164 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive congenital ichthyosis 2		 Criteria Provided
Conflicting Classifications
 CA8367397 rs_753070490

2 SubmittersRCV000915780RCV001123322
NM_001139.3(ALOX12B):c.435-2A>G SNV
Unknown		 Chr17:8080978 Pathogenic Autosomal recessive congenital ichthyosis 2 Criteria Provided
Single Submitter
 CA397996114 rs_1598181642

1 SubmittersRCV000989745
NM_001139.3(ALOX12B):c.1148C>T (p.Thr383Met) SNV
Germline		 Chr17:8077117 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive congenital ichthyosis 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8367388 rs_760428119

3 SubmittersRCV001092407RCV001289945
NM_001139.3(ALOX12B):c.1325G>A (p.Arg442Gln) SNV
Germline		 Chr17:8076694 Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA287544275 rs_1028050037

3 SubmittersRCV001123321RCV005056911
NM_001139.3(ALOX12B):c.305A>G (p.Tyr102Cys) SNV
Unknown		 Chr17:8086063 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA397999129 rs_1978296638

1 SubmittersRCV001169999
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro) SNV
Germline		 Chr17:8079523 Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2 Criteria Provided
Conflicting Classifications
 CA397993435 rs_1977160529

2 SubmittersRCV001197085
NM_001139.3(ALOX12B):c.1799G>A (p.Arg600Gln) SNV
Unknown		 Chr17:8073275 Likely pathogenic Autosomal recessive congenital ichthyosis 2 Criteria Provided
Single Submitter
 CA397986519 rs_1333287390

1 SubmittersRCV001262494
NM_001139.3(ALOX12B):c.2064C>G (p.Tyr688Ter) SNV
Unknown		 Chr17:8072813 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397985345 rs_1977007859

1 SubmittersRCV001289932
NM_001139.3(ALOX12B):c.2060A>G (p.Tyr687Cys) SNV
Unknown		 Chr17:8072817 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397985365 rs_1482844053

1 SubmittersRCV001289964
NM_001139.3(ALOX12B):c.2041A>T (p.Lys681Ter) SNV
Unknown		 Chr17:8072836 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397985438 rs_1977008620

1 SubmittersRCV001289963
NM_001139.3(ALOX12B):c.2036G>A (p.Arg679His) SNV
Unknown		 Chr17:8072841 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA8367107 rs_397514528

1 SubmittersRCV001289927
NM_001139.3(ALOX12B):c.2035C>A (p.Arg679Ser) SNV
Unknown		 Chr17:8072842 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397985468 rs_1977008879

1 SubmittersRCV001289926
NM_001139.3(ALOX12B):c.2000A>C (p.Gln667Pro) SNV
Unknown		 Chr17:8072877 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397985613 rs_1977009717

1 SubmittersRCV001289532
NM_001139.3(ALOX12B):c.1963G>A (p.Glu655Lys) SNV
Unknown		 Chr17:8072914 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397985754 rs_1977010880

1 SubmittersRCV001289923
NM_001139.3(ALOX12B):c.1936G>A (p.Gly646Arg) SNV
Unknown		 Chr17:8072941 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397985872 rs_1398340320

1 SubmittersRCV001289961
NM_001139.3(ALOX12B):c.1926+2T>G SNV
Unknown		 Chr17:8073146 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397985951 rs_1977016035

1 SubmittersRCV001289940
NM_001139.3(ALOX12B):c.1871C>T (p.Thr624Ile) SNV
Unknown		 Chr17:8073203 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397986187 rs_1977016836

1 SubmittersRCV001289966
NM_001139.3(ALOX12B):c.1861G>T (p.Asp621Tyr) SNV
Unknown		 Chr17:8073213 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397986238 rs_1977016973

1 SubmittersRCV001289936
NM_001139.3(ALOX12B):c.1829C>T (p.Thr610Ile) SNV
Unknown		 Chr17:8073245 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA8367171 rs_773052129

1 SubmittersRCV001289960
NM_001139.3(ALOX12B):c.1821G>C (p.Lys607Asn) SNV
Unknown		 Chr17:8073253 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397986413 rs_1977018125

1 SubmittersRCV001289937
NM_001139.3(ALOX12B):c.1797G>T (p.Met599Ile) SNV
Unknown		 Chr17:8073277 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397986525 rs_1977018643

1 SubmittersRCV001289965
NM_001139.3(ALOX12B):c.1787C>T (p.Pro596Leu) SNV
Unknown		 Chr17:8073287 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397986559 rs_1360781582

1 SubmittersRCV001289526
NM_001139.3(ALOX12B):c.1742T>G (p.Val581Gly) SNV
Unknown		 Chr17:8073670 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397987568 rs_1977027551

1 SubmittersRCV001289928
NM_001139.3(ALOX12B):c.1732C>T (p.His578Tyr) SNV
Unknown		 Chr17:8073680 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397987598 rs_1977027733

1 SubmittersRCV001289930
NM_001139.3(ALOX12B):c.1694G>C (p.Arg565Pro) SNV
Unknown		 Chr17:8073718 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397987818 rs_1567980597

1 SubmittersRCV001289933
NM_001139.3(ALOX12B):c.1676C>T (p.Thr559Ile) SNV
Unknown		 Chr17:8073736 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397987913 rs_1977028854

1 SubmittersRCV001289527
NM_001139.3(ALOX12B):c.1655-7C>A SNV
Unknown		 Chr17:8073764 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA1139665209 rs_201543289

1 SubmittersRCV001289507
NM_001139.3(ALOX12B):c.1654+3A>G SNV
Germline		 Chr17:8075592 Pathogenic Autosomal recessive congenital ichthyosis 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8367240 rs_371537819

3 SubmittersRCV001289533RCV002538380
NM_001139.3(ALOX12B):c.1654+1G>A SNV
Unknown		 Chr17:8075594 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397988283 rs_1977061578

1 SubmittersRCV001289931
NM_001139.3(ALOX12B):c.1630T>C (p.Cys544Arg) SNV
Unknown		 Chr17:8075619 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397989585 rs_1364754878

1 SubmittersRCV001289518
NM_001139.3(ALOX12B):c.1613A>C (p.Gln538Pro) SNV
Unknown		 Chr17:8075636 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397989760 rs_1977062849

1 SubmittersRCV001289925
NM_001139.3(ALOX12B):c.1609G>A (p.Val537Met) SNV
Germline		 Chr17:8075640 Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA287543316 rs_962267153

4 SubmittersRCV001289955RCV001773593
NM_001139.3(ALOX12B):c.1533-1G>T SNV
Unknown		 Chr17:8075717 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397990114 rs_1977066082

1 SubmittersRCV001289516
NM_001139.3(ALOX12B):c.1495C>T (p.Arg499Cys) SNV
Germline		 Chr17:8076212 Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2
Condition: not provided
Lamellar ichthyosis		 Criteria Provided
Conflicting Classifications
 CA8367291 rs_368323729

3 SubmittersRCV001289957RCV001773594RCV005236767
NM_001139.3(ALOX12B):c.1463G>A (p.Arg488His) SNV
Germline		 Chr17:8076244 Pathogenic Autosomal recessive congenital ichthyosis 2
Lamellar ichthyosis
ALOX12B-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8367295 rs_763468558

4 SubmittersRCV001289523RCV002222692RCV003405498
NM_001139.3(ALOX12B):c.1427A>G (p.Tyr476Cys) SNV
Unknown		 Chr17:8076280 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397990676 rs_1977079083

1 SubmittersRCV001289952
NM_001139.3(ALOX12B):c.1405C>T (p.Arg469Trp) SNV
Germline		 Chr17:8076302 Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2
Condition: not provided
Autosomal recessive congenital ichthyosis		 Criteria Provided
Conflicting Classifications
 CA8367311 rs_559401066

5 SubmittersRCV001289921RCV001586112RCV005626385
NM_001139.3(ALOX12B):c.1385G>A (p.Gly462Asp) SNV
Unknown		 Chr17:8076322 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA8367315 rs_774958790

1 SubmittersRCV001289956
NM_001139.3(ALOX12B):c.1309A>T (p.Ile437Phe) SNV
Unknown		 Chr17:8076710 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397991432 rs_1977091512

1 SubmittersRCV001289531
NM_001139.3(ALOX12B):c.1265C>T (p.Pro422Leu) SNV
Germline		 Chr17:8077000 Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8367365 rs_774333332

3 SubmittersRCV001289947RCV003558795
NM_001139.3(ALOX12B):c.1261C>T (p.His421Tyr) SNV
Germline		 Chr17:8077004 Likely pathogenic Autosomal recessive congenital ichthyosis 2
Lamellar ichthyosis		 Criteria Provided
Single Submitter
 CA397991860 rs_1977099347

2 SubmittersRCV001289944RCV003492244
NM_001139.3(ALOX12B):c.1211T>G (p.Leu404Arg) SNV
Unknown		 Chr17:8077054 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397992030 rs_1977100621

1 SubmittersRCV001289535
NM_001139.3(ALOX12B):c.1192C>T (p.His398Tyr) SNV
Germline		 Chr17:8077073 Likely pathogenic Autosomal recessive congenital ichthyosis 2
Lamellar ichthyosis
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8367373 rs_752176414

3 SubmittersRCV001289949RCV004699274RCV004797925
NM_001139.3(ALOX12B):c.1157G>A (p.Arg386His) SNV
Germline		 Chr17:8077108 Likely pathogenic Autosomal recessive congenital ichthyosis 2 Criteria Provided
Single Submitter
 CA8367384 rs_759484732

2 SubmittersRCV001289946
NM_001139.3(ALOX12B):c.1127G>A (p.Trp376Ter) SNV
Unknown		 Chr17:8077138 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397992294 rs_1977104461

1 SubmittersRCV001289943
NM_001139.3(ALOX12B):c.1078C>G (p.Gln360Glu) SNV
Unknown		 Chr17:8077187 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397992466 rs_1977105578

1 SubmittersRCV001289942
NM_001139.3(ALOX12B):c.1071+1G>C SNV
Unknown		 Chr17:8079395 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397992983 rs_1598180319

1 SubmittersRCV001289918
NM_001139.3(ALOX12B):c.1057C>A (p.Pro353Thr) SNV
Unknown		 Chr17:8079410 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397993034 rs_1977157245

1 SubmittersRCV001289941
NM_001139.3(ALOX12B):c.1025T>C (p.Leu342Pro) SNV
Unknown		 Chr17:8079442 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397993147 rs_1202860455

1 SubmittersRCV001289917
NM_001139.3(ALOX12B):c.928-1G>C SNV
Unknown		 Chr17:8079540 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397993505 rs_1977161156

1 SubmittersRCV001289519
NM_001139.3(ALOX12B):c.893T>C (p.Leu298Pro) SNV
Unknown		 Chr17:8079803 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397994201 rs_1977168456

1 SubmittersRCV001289972
NM_001139.3(ALOX12B):c.814G>T (p.Val272Phe) SNV
Unknown		 Chr17:8079882 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397994454 rs_1308351316

1 SubmittersRCV001289973
NM_001139.3(ALOX12B):c.793G>A (p.Gly265Arg) SNV
Unknown		 Chr17:8079903 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397994514 rs_1977171852

1 SubmittersRCV001289971
NM_001139.3(ALOX12B):c.698G>A (p.Trp233Ter) SNV
Unknown		 Chr17:8080291 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397994896 rs_1977185603

1 SubmittersRCV001289520
NM_001139.3(ALOX12B):c.527+1G>A SNV
Unknown		 Chr17:8080883 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397995644 rs_1356373737

1 SubmittersRCV001289975
NM_001139.3(ALOX12B):c.371A>T (p.Asp124Val) SNV
Unknown		 Chr17:8081169 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA8367691 rs_138503921

1 SubmittersRCV001289938
NM_001139.3(ALOX12B):c.325G>T (p.Glu109Ter) SNV
Unknown		 Chr17:8086043 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397998962 rs_536446862

1 SubmittersRCV001289934
NM_001139.3(ALOX12B):c.307C>T (p.Gln103Ter) SNV
Unknown		 Chr17:8086061 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397999118 rs_1978296625

1 SubmittersRCV001289515
NM_001139.3(ALOX12B):c.299C>T (p.Pro100Leu) SNV
Unknown		 Chr17:8086069 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397999160 rs_1256507861

1 SubmittersRCV001289959
NM_001139.3(ALOX12B):c.297C>A (p.Phe99Leu) SNV
Unknown		 Chr17:8086071 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397999189 rs_1978296717

1 SubmittersRCV001289534
NM_001139.3(ALOX12B):c.209A>C (p.His70Pro) SNV
Unknown		 Chr17:8086159 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA397999884 rs_1978297441

1 SubmittersRCV001289922
NM_001139.3(ALOX12B):c.71T>C (p.Leu24Pro) SNV
Germline		 Chr17:8087372 Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 2
Lamellar ichthyosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8367812 rs_201575829

5 SubmittersRCV001289514RCV002509651RCV003238858
NM_001139.3(ALOX12B):c.67T>C (p.Ser23Pro) SNV
Unknown		 Chr17:8087376 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA398000747 rs_1978304974

1 SubmittersRCV001289980
NM_001139.3(ALOX12B):c.58G>T (p.Asp20Tyr) SNV
Unknown		 Chr17:8087385 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA398000780 rs_1978305028

1 SubmittersRCV001289970
NM_001139.3(ALOX12B):c.47C>T (p.Ser16Leu) SNV
Germline		 Chr17:8087396 Pathogenic Autosomal recessive congenital ichthyosis 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA8367817 rs_147784568

2 SubmittersRCV001289978RCV005057217
NM_001139.3(ALOX12B):c.47C>G (p.Ser16Trp) SNV
Unknown		 Chr17:8087396 Pathogenic Autosomal recessive congenital ichthyosis 2 No Assertion Criteria Provided
 CA398000810 rs_147784568

1 SubmittersRCV001289982
NM_001139.3(ALOX12B):c.1496G>A (p.Arg499His) SNV
Germline		 Chr17:8076211 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive congenital ichthyosis 2
Lamellar ichthyosis		 Criteria Provided
Conflicting Classifications
 CA8367290 rs_768784091

4 SubmittersRCV001871811RCV001330370RCV005432674
NM_001139.3(ALOX12B):c.88C>T (p.Gln30Ter) SNV
Germline		 Chr17:8087355 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA398000685 rs_1271517650

1 SubmittersRCV001358651
NM_001139.3(ALOX12B):c.759C>A (p.Tyr253Ter) SNV
Germline		 Chr17:8079937 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA397994611 rs_2151823018

1 SubmittersRCV001553158
NM_001139.3(ALOX12B):c.805C>T (p.Leu269Phe) SNV
Germline		 Chr17:8079891 Likely pathogenic Autosomal recessive congenital ichthyosis 2 Criteria Provided
Single Submitter
 CA397994475 rs_532842455

1 SubmittersRCV001730123
NM_001139.3(ALOX12B):c.1926+1G>A SNV
Germline		 Chr17:8073147 Pathogenic/Likely pathogenic Condition: not provided
Lamellar ichthyosis
Autosomal recessive congenital ichthyosis 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397985957 rs_2151820983

3 SubmittersRCV001886306RCV002282629RCV005016729
NM_001139.3(ALOX12B):c.1229G>T (p.Cys410Phe) SNV
Germline		 Chr17:8077036 Conflicting classifications of pathogenicity Condition: not provided
ALOX12B-related disorder		 Criteria Provided
Conflicting Classifications
 CA8367370 rs_138729161

5 SubmittersRCV002160280RCV003903434
NM_001139.3(ALOX12B):c.1071+2T>C SNV
Germline		 Chr17:8079394 Likely pathogenic Lamellar ichthyosis Criteria Provided
Single Submitter
 CA397992976 rs_1336771064

1 SubmittersRCV002510317
NM_001139.3(ALOX12B):c.1463G>C (p.Arg488Pro) SNV
Germline		 Chr17:8076244 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA397990485 rs_763468558

1 SubmittersRCV002871934
NM_001139.3(ALOX12B):c.1273A>T (p.Lys425Ter) SNV
Germline		 Chr17:8076992 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA397991795 rs_1399602547

1 SubmittersRCV002918793
NM_001139.3(ALOX12B):c.1517G>A (p.Trp506Ter) SNV
Germline		 Chr17:8076190 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA397990251 rs_2507691699

1 SubmittersRCV003685874
NM_001139.3(ALOX12B):c.1462C>T (p.Arg488Cys) SNV
Germline		 Chr17:8076245 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA397990490 rs_1221632429

1 SubmittersRCV003709536
NM_001139.3(ALOX12B):c.1878C>A (p.Cys626Ter) SNV
Germline		 Chr17:8073196 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004697502
NM_001139.3(ALOX12B):c.352+2T>G SNV
Germline		 Chr17:8086014 Likely pathogenic Lamellar ichthyosis Criteria Provided
Single Submitter

1 SubmittersRCV004766649
NM_001139.3(ALOX12B):c.324C>G (p.Tyr108Ter) SNV
Germline		 Chr17:8086044 Pathogenic Lamellar ichthyosis Criteria Provided
Single Submitter

1 SubmittersRCV004783369
NM_001139.3(ALOX12B):c.1693C>T (p.Arg565Ter) SNV
Germline		 Chr17:8073719 Pathogenic Autosomal recessive congenital ichthyosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV004797567
NM_001139.3(ALOX12B):c.1A>G (p.Met1Val) SNV
Germline		 Chr17:8087442 Likely pathogenic Autosomal recessive congenital ichthyosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005026159
NM_001139.3(ALOX12B):c.1972C>T (p.Pro658Ser) SNV
Germline		 Chr17:8072905 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005068653
NM_001139.3(ALOX12B):c.311G>A (p.Trp104Ter) SNV
Germline		 Chr17:8086057 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005079275
NM_001139.3(ALOX12B):c.200T>A (p.Ile67Asn) SNV
Germline		 Chr17:8086168 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005134350
NM_001139.3(ALOX12B):c.2069T>C (p.Leu690Pro) SNV
Germline		 Chr17:8072808 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005182925
NM_001139.3(ALOX12B):c.77T>C (p.Ile26Thr) SNV
Germline		 Chr17:8087366 Likely pathogenic Autosomal recessive congenital ichthyosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005215805
NM_001139.3(ALOX12B):c.1990G>C (p.Ala664Pro) SNV
Germline		 Chr17:8072887 Likely pathogenic Lamellar ichthyosis Criteria Provided
Single Submitter

1 SubmittersRCV005238446
NM_001139.3(ALOX12B):c.1161T>A (p.Tyr387Ter) SNV
Germline		 Chr17:8077104 Likely pathogenic Autosomal recessive congenital ichthyosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005253202
NM_001139.3(ALOX12B):c.1654G>T (p.Gly552Cys) SNV
Germline		 Chr17:8075595 Pathogenic/Likely pathogenic Lamellar ichthyosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005408446RCV005422620