| 28901034 | CV878803 | single nucleotide variant | NM_001139.3(ALOX12B):c.-2C>T | Autosomal recessive congenital ichthyosis 2 [RCV001124610] | uncertain significance | 17 | 8087444 | 8087444 | Human | 1 | name |
| 11629121 | CV346360 | single nucleotide variant | NM_001139.3(ALOX12B):c.*66C>T | Autosomal recessive congenital ichthyosis 2 [RCV000315291] | benign|uncertain significance | 17 | 8072705 | 8072705 | Human | 1 | name |
| 11631366 | CV346384 | single nucleotide variant | NM_001139.3(ALOX12B):c.-48C>A | Autosomal recessive congenital ichthyosis 2 [RCV000375393]|not provided [RCV004694382] | uncertain significance | 17 | 8087490 | 8087490 | Human | 1 | name |
| 11614076 | CV330521 | single nucleotide variant | NM_001139.3(ALOX12B):c.*101A>G | Autosomal recessive congenital ichthyosis 2 [RCV000274257] | uncertain significance | 17 | 8072670 | 8072670 | Human | 1 | name |
| 11615493 | CV330547 | single nucleotide variant | NM_001139.3(ALOX12B):c.-158G>T | Autosomal recessive congenital ichthyosis 2 [RCV000286559]|not provided [RCV004709804] | benign|likely benign | 17 | 8087600 | 8087600 | Human | 1 | name |
| 11619131 | CV340784 | single nucleotide variant | NM_001139.3(ALOX12B):c.-155T>C | Autosomal recessive congenital ichthyosis 2 [RCV000321985]|not provided [RCV001618574] | benign | 17 | 8087597 | 8087597 | Human | 1 | name |
| 11649963 | CV340788 | single nucleotide variant | NM_001139.3(ALOX12B):c.-212C>T | Autosomal recessive congenital ichthyosis 2 [RCV000290242] | uncertain significance | 17 | 8087654 | 8087654 | Human | 1 | name |
| 11645259 | CV346388 | single nucleotide variant | NM_001139.3(ALOX12B):c.-110C>A | Autosomal recessive congenital ichthyosis 2 [RCV000264384] | uncertain significance | 17 | 8087552 | 8087552 | Human | 1 | name |
| 11661688 | CV346392 | single nucleotide variant | NM_001139.3(ALOX12B):c.-157C>T | Congenital ichthyosiform erythroderma [RCV000378887] | uncertain significance | 17 | 8087599 | 8087599 | Human | 2 | name |
| 11662044 | CV346395 | single nucleotide variant | NM_001139.3(ALOX12B):c.-201C>G | Autosomal recessive congenital ichthyosis 2 [RCV000382225] | uncertain significance | 17 | 8087643 | 8087643 | Human | 1 | name |
| 11635600 | CV347722 | duplication | NM_001139.3(ALOX12B):c.*118dup | Congenital ichthyosiform erythroderma [RCV000369002] | uncertain significance | 17 | 8072652 | 8072653 | Human | 2 | name |
| 11657780 | CV347737 | single nucleotide variant | NM_001139.3(ALOX12B):c.-199G>A | Autosomal recessive congenital ichthyosis 2 [RCV000343905] | uncertain significance | 17 | 8087641 | 8087641 | Human | 1 | name |
| 28901038 | CV878804 | single nucleotide variant | NM_001139.3(ALOX12B):c.-141C>T | Autosomal recessive congenital ichthyosis 2 [RCV001124611] | uncertain significance | 17 | 8087583 | 8087583 | Human | 1 | name |
| 11552387 | CV256545 | single nucleotide variant | NM_001139.3(ALOX12B):c.650+7C>G | Autosomal recessive congenital ichthyosis 2 [RCV000359110]|not provided [RCV001636763]|not specified [RCV000254306] | benign | 17 | 8080651 | 8080651 | Human | 1 | name |
| 405026689 | CV3000001 | single nucleotide variant | NM_001139.3(ALOX12B):c.527+3A>C | not provided [RCV003695266] | uncertain significance | 17 | 8080881 | 8080881 | Human | | name |
| 11622406 | CV340770 | single nucleotide variant | NM_001139.3(ALOX12B):c.528-8C>T | Autosomal recessive congenital ichthyosis 2 [RCV000360100]|not provided [RCV000903104] | benign|uncertain significance | 17 | 8080788 | 8080788 | Human | 1 | name |
| 408384085 | CV3525739 | single nucleotide variant | NM_001139.3(ALOX12B):c.352+2T>G | Lamellar ichthyosis [RCV004766649] | likely pathogenic | 17 | 8086014 | 8086014 | Human | 1 | name |
| 13216644 | CV431019 | single nucleotide variant | NM_001139.3(ALOX12B):c.527+2T>G | Autosomal recessive congenital ichthyosis 2 [RCV000504018] | pathogenic|likely pathogenic | 17 | 8080882 | 8080882 | Human | 1 | name |
| 13216928 | CV431020 | single nucleotide variant | NM_001139.3(ALOX12B):c.353-2A>G | Autosomal recessive congenital ichthyosis 2 [RCV000504373]|not provided [RCV003766860] | pathogenic|likely pathogenic|uncertain significance | 17 | 8081189 | 8081189 | Human | 1 | name |
| 8570493 | CV48143 | single nucleotide variant | NM_001139.3(ALOX12B):c.353-1G>A | Autosomal recessive congenital ichthyosis 2 [RCV000032742] | pathogenic | 17 | 8081188 | 8081188 | Human | 1 | name |
| 14693599 | CV620892 | single nucleotide variant | NM_001139.3(ALOX12B):c.928-2A>G | Lamellar ichthyosis [RCV003226390]|not provided [RCV002535648] | pathogenic|likely pathogenic|uncertain significance | 17 | 8079541 | 8079541 | Human | 1 | name |
| 15187261 | CV745012 | single nucleotide variant | NM_001139.3(ALOX12B):c.927+7C>A | not provided [RCV000909042] | benign | 17 | 8079762 | 8079762 | Human | | name |
| 21072944 | CV791844 | single nucleotide variant | NM_001139.3(ALOX12B):c.435-2A>G | Autosomal recessive congenital ichthyosis 2 [RCV000989745] | pathogenic | 17 | 8080978 | 8080978 | Human | 1 | name |
| 28897746 | CV880620 | single nucleotide variant | NM_001139.3(ALOX12B):c.927+5G>A | Autosomal recessive congenital ichthyosis 2 [RCV001123324] | uncertain significance | 17 | 8079764 | 8079764 | Human | 1 | name |
| 41407287 | CV983424 | single nucleotide variant | NM_001139.3(ALOX12B):c.928-1G>C | Autosomal recessive congenital ichthyosis 2 [RCV001289519] | pathogenic | 17 | 8079540 | 8079540 | Human | 1 | name |
| 41407529 | CV983436 | single nucleotide variant | NM_001139.3(ALOX12B):c.527+1G>A | Autosomal recessive congenital ichthyosis 2 [RCV001289975] | pathogenic | 17 | 8080883 | 8080883 | Human | 1 | name |
| 150333992 | CV1169758 | single nucleotide variant | NM_001139.3(ALOX12B):c.651-25C>T | not provided [RCV001537568] | benign | 17 | 8080363 | 8080363 | Human | | name |
| 150468057 | CV1256997 | single nucleotide variant | NM_001139.3(ALOX12B):c.147+47G>C | not provided [RCV001670643] | benign | 17 | 8087249 | 8087249 | Human | | name |
| 150449098 | CV1260777 | single nucleotide variant | NM_001139.3(ALOX12B):c.527+45T>G | not provided [RCV001680446] | benign | 17 | 8080839 | 8080839 | Human | | name |
| 150474480 | CV1272342 | single nucleotide variant | NM_001139.3(ALOX12B):c.927+75C>T | not provided [RCV001695880] | benign | 17 | 8079694 | 8079694 | Human | | name |
| 150478664 | CV1282029 | duplication | NM_001139.3(ALOX12B):c.148-67dup | not provided [RCV001714333] | benign | 17 | 8086286 | 8086287 | Human | | name |
| 151879797 | CV1506360 | single nucleotide variant | NM_001139.3(ALOX12B):c.1926+1G>A | Autosomal recessive congenital ichthyosis 2 [RCV005016729]|Lamellar ichthyosis [RCV002282629]|not provided [RCV001886306] | pathogenic|likely pathogenic | 17 | 8073147 | 8073147 | Human | 2 | name |
| 156053857 | CV1935031 | single nucleotide variant | NM_001139.3(ALOX12B):c.1071+2T>C | Lamellar ichthyosis [RCV002510317] | likely pathogenic | 17 | 8079394 | 8079394 | Human | 1 | name |
| 156394429 | CV1958753 | single nucleotide variant | NM_001139.3(ALOX12B):c.755-13G>T | not provided [RCV002584216] | likely benign | 17 | 8079954 | 8079954 | Human | | name |
| 156088227 | CV1983886 | single nucleotide variant | NM_001139.3(ALOX12B):c.1655-7C>G | not provided [RCV002621769] | likely benign | 17 | 8073764 | 8073764 | Human | | name |
| 402525201 | CV3175961 | single nucleotide variant | NM_001139.3(ALOX12B):c.528-18C>G | not provided [RCV003880061] | likely benign | 17 | 8080798 | 8080798 | Human | | name |
| 11623234 | CV340749 | single nucleotide variant | NM_001139.3(ALOX12B):c.1926+9C>T | Autosomal recessive congenital ichthyosis 2 [RCV000370109] | uncertain significance | 17 | 8073139 | 8073139 | Human | 1 | name |
| 11644706 | CV340751 | single nucleotide variant | NM_001139.3(ALOX12B):c.1926+4C>T | Autosomal recessive congenital ichthyosis 2 [RCV000261385] | uncertain significance | 17 | 8073144 | 8073144 | Human | 1 | name |
| 11612703 | CV340755 | single nucleotide variant | NM_001139.3(ALOX12B):c.1655-9G>A | Autosomal recessive congenital ichthyosis 2 [RCV000261608]|not provided [RCV000974545] | likely benign|uncertain significance | 17 | 8073766 | 8073766 | Human | 1 | name |
| 11661324 | CV346361 | single nucleotide variant | NM_001139.3(ALOX12B):c.1756-9C>T | Autosomal recessive congenital ichthyosis 2 [RCV000375043] | uncertain significance | 17 | 8073327 | 8073327 | Human | 1 | name |
| 597854721 | CV3762538 | single nucleotide variant | NM_001139.3(ALOX12B):c.1532+3G>A | not specified [RCV005088455] | uncertain significance | 17 | 8076172 | 8076172 | Human | | name |
| 28907108 | CV880619 | single nucleotide variant | NM_001139.3(ALOX12B):c.1362+4A>C | Autosomal recessive congenital ichthyosis 2 [RCV001127395] | uncertain significance | 17 | 8076653 | 8076653 | Human | 1 | name |
| 28897749 | CV880621 | single nucleotide variant | NM_001139.3(ALOX12B):c.754+14C>G | Autosomal recessive congenital ichthyosis 2 [RCV001123325] | uncertain significance | 17 | 8080221 | 8080221 | Human | 1 | name |
| 28900558 | CV880622 | single nucleotide variant | NM_001139.3(ALOX12B):c.434+11G>T | Autosomal recessive congenital ichthyosis 2 [RCV001124415] | uncertain significance | 17 | 8081095 | 8081095 | Human | 1 | name |
| 28898275 | CV880623 | single nucleotide variant | NM_001139.3(ALOX12B):c.147+13G>A | Autosomal recessive congenital ichthyosis 2 [RCV001123521] | uncertain significance | 17 | 8087283 | 8087283 | Human | 1 | name |
| 41407489 | CV983377 | single nucleotide variant | NM_001139.3(ALOX12B):c.1926+2T>G | Autosomal recessive congenital ichthyosis 2 [RCV001289940] | pathogenic | 17 | 8073146 | 8073146 | Human | 1 | name |
| 41407277 | CV983389 | single nucleotide variant | NM_001139.3(ALOX12B):c.1655-7C>A | Autosomal recessive congenital ichthyosis 2 [RCV001289507] | pathogenic | 17 | 8073764 | 8073764 | Human | 1 | name |
| 41407300 | CV983390 | single nucleotide variant | NM_001139.3(ALOX12B):c.1654+3A>G | Autosomal recessive congenital ichthyosis 2 [RCV001289533]|not provided [RCV002538380] | pathogenic | 17 | 8075592 | 8075592 | Human | 1 | name |
| 41407479 | CV983391 | single nucleotide variant | NM_001139.3(ALOX12B):c.1654+1G>A | Autosomal recessive congenital ichthyosis 2 [RCV001289931] | pathogenic | 17 | 8075594 | 8075594 | Human | 1 | name |
| 41407284 | CV983397 | single nucleotide variant | NM_001139.3(ALOX12B):c.1533-1G>T | Autosomal recessive congenital ichthyosis 2 [RCV001289516] | pathogenic | 17 | 8075717 | 8075717 | Human | 1 | name |
| 41407462 | CV983417 | single nucleotide variant | NM_001139.3(ALOX12B):c.1071+1G>C | Autosomal recessive congenital ichthyosis 2 [RCV001289918] | pathogenic | 17 | 8079395 | 8079395 | Human | 1 | name |
| 41407295 | CV983418 | duplication | NM_001139.3(ALOX12B):c.1071+1dup | Autosomal recessive congenital ichthyosis 2 [RCV001289528] | pathogenic | 17 | 8079394 | 8079395 | Human | 1 | name |
| 150404707 | CV1178997 | single nucleotide variant | NM_001139.3(ALOX12B):c.1655-30T>C | Autosomal recessive congenital ichthyosis 2 [RCV001549117]|not provided [RCV001676054] | benign | 17 | 8073787 | 8073787 | Human | 1 | name |
| 150404709 | CV1178998 | single nucleotide variant | NM_001139.3(ALOX12B):c.1532+30T>C | Autosomal recessive congenital ichthyosis 2 [RCV001549118]|not provided [RCV001713029] | benign | 17 | 8076145 | 8076145 | Human | 1 | name |
| 150502692 | CV1212296 | single nucleotide variant | NM_001139.3(ALOX12B):c.651-143T>C | not provided [RCV001595170] | benign | 17 | 8080481 | 8080481 | Human | | name |
| 150516055 | CV1216424 | single nucleotide variant | NM_001139.3(ALOX12B):c.1654+94A>T | not provided [RCV001608615] | benign | 17 | 8075501 | 8075501 | Human | | name |
| 150491876 | CV1238073 | single nucleotide variant | NM_001139.3(ALOX12B):c.1655-80G>A | not provided [RCV001654919] | benign | 17 | 8073837 | 8073837 | Human | | name |
| 150471111 | CV1258743 | single nucleotide variant | NM_001139.3(ALOX12B):c.352+287C>A | not provided [RCV001684289] | benign | 17 | 8085729 | 8085729 | Human | | name |
| 150487125 | CV1262688 | single nucleotide variant | NM_001139.3(ALOX12B):c.352+275G>A | not provided [RCV001687085] | benign | 17 | 8085741 | 8085741 | Human | | name |
| 150444599 | CV1266554 | single nucleotide variant | NM_001139.3(ALOX12B):c.1755+58T>A | not provided [RCV001690991] | benign | 17 | 8073599 | 8073599 | Human | | name |
| 150493539 | CV1282032 | single nucleotide variant | NM_001139.3(ALOX12B):c.927+110C>T | not provided [RCV001717029] | benign | 17 | 8079659 | 8079659 | Human | | name |
| 405112890 | CV3118614 | single nucleotide variant | NM_001139.3(ALOX12B):c.1927-17G>C | not provided [RCV003813842] | likely benign | 17 | 8072967 | 8072967 | Human | | name |
| 405217841 | CV3135634 | single nucleotide variant | NM_001139.3(ALOX12B):c.1655-13C>T | not provided [RCV003824259] | likely benign | 17 | 8073770 | 8073770 | Human | | name |
| 11615627 | CV330524 | single nucleotide variant | NM_001139.3(ALOX12B):c.1532+15G>T | Autosomal recessive congenital ichthyosis 2 [RCV000287791] | uncertain significance | 17 | 8076160 | 8076160 | Human | 1 | name |
| 11621466 | CV340761 | single nucleotide variant | NM_001139.3(ALOX12B):c.1276-13G>C | Congenital ichthyosiform erythroderma [RCV000348699] | uncertain significance | 17 | 8076756 | 8076756 | Human | 2 | name |
| 28907101 | CV880618 | single nucleotide variant | NM_001139.3(ALOX12B):c.1533-11C>G | Autosomal recessive congenital ichthyosis 2 [RCV001127391]|not provided [RCV002070084] | benign | 17 | 8075727 | 8075727 | Human | 1 | name |
| 150487093 | CV1225851 | single nucleotide variant | NM_001139.3(ALOX12B):c.1072-271A>G | not provided [RCV001618012] | benign | 17 | 8077464 | 8077464 | Human | | name |
| 150431634 | CV1234224 | microsatellite | NM_001139.3(ALOX12B):c.147+7GT[14] | not provided [RCV001641877] | benign | 17 | 8087260 | 8087261 | Human | | name |
| 150474497 | CV1234460 | single nucleotide variant | NM_001139.3(ALOX12B):c.1655-293G>A | not provided [RCV001651780] | benign | 17 | 8074050 | 8074050 | Human | | name |
| 150445777 | CV1271765 | single nucleotide variant | NM_001139.3(ALOX12B):c.1654+162C>T | not provided [RCV001691179] | benign | 17 | 8075433 | 8075433 | Human | | name |
| 150404710 | CV1178999 | deletion | NM_001139.3(ALOX12B):c.147+59_147+60del | Autosomal recessive congenital ichthyosis 2 [RCV001549119]|not provided [RCV001673190] | benign | 17 | 8087236 | 8087237 | Human | 1 | name |
| 150501326 | CV1223676 | deletion | NM_001139.3(ALOX12B):c.147+37_147+44del | not provided [RCV001620797] | benign | 17 | 8087252 | 8087259 | Human | | name |
| 150501769 | CV1224281 | deletion | NM_001139.3(ALOX12B):c.147+37_147+42del | not provided [RCV001620922] | benign | 17 | 8087254 | 8087259 | Human | | name |
| 150483178 | CV1245067 | deletion | NM_001139.3(ALOX12B):c.147+57_147+68del | not provided [RCV001653244] | benign | 17 | 8087228 | 8087239 | Human | | name |
| 11618864 | CV340782 | single nucleotide variant | NM_001139.3(ALOX12B):c.39C>T (p.Asp13=) | ALOX12B-related disorder [RCV003950110]|Autosomal recessive congenital ichthyosis 2 [RCV000318545]|not provided [RCV000982772] | likely benign|uncertain significance | 17 | 8087404 | 8087404 | Human | 1 | name , trait , alternate_id |
| 11626307 | CV346383 | single nucleotide variant | NM_001139.3(ALOX12B):c.42C>T (p.Leu14=) | Autosomal recessive congenital ichthyosis 2 [RCV000260983]|not provided [RCV002056644] | benign|likely benign | 17 | 8087401 | 8087401 | Human | 1 | name |
| 11630600 | CV347731 | single nucleotide variant | NM_001139.3(ALOX12B):c.48G>A (p.Ser16=) | Autosomal recessive congenital ichthyosis 2 [RCV000353549] | uncertain significance | 17 | 8087395 | 8087395 | Human | 1 | name |
| 597645324 | CV3712450 | single nucleotide variant | NM_001139.3(ALOX12B):c.1A>G (p.Met1Val) | Autosomal recessive congenital ichthyosis 2 [RCV005026159] | likely pathogenic | 17 | 8087442 | 8087442 | Human | 1 | name |
| 405203675 | CV3144005 | single nucleotide variant | NM_001139.3(ALOX12B):c.180C>T (p.Asp60=) | not provided [RCV003844795] | likely benign | 17 | 8086188 | 8086188 | Human | | name |
| 11614387 | CV330538 | single nucleotide variant | NM_001139.3(ALOX12B):c.135T>C (p.Phe45=) | ALOX12B-related disorder [RCV003910248]|Autosomal recessive congenital ichthyosis 2 [RCV000276430]|not provided [RCV000887907] | benign|likely benign|uncertain significance | 17 | 8087308 | 8087308 | Human | 1 | name , trait , alternate_id |
| 11623033 | CV340780 | single nucleotide variant | NM_001139.3(ALOX12B):c.144G>A (p.Gly48=) | Autosomal recessive congenital ichthyosis 2 [RCV000367116]|not provided [RCV003884475] | likely benign|uncertain significance | 17 | 8087299 | 8087299 | Human | 1 | name |
| 11627674 | CV346380 | single nucleotide variant | NM_001139.3(ALOX12B):c.222C>T (p.Tyr74=) | Autosomal recessive congenital ichthyosis 2 [RCV000286320]|not provided [RCV000892113] | benign|uncertain significance | 17 | 8086146 | 8086146 | Human | 1 | name |
| 15132536 | CV741193 | single nucleotide variant | NM_001139.3(ALOX12B):c.162C>T (p.Thr54=) | not provided [RCV000897973] | likely benign | 17 | 8086206 | 8086206 | Human | | name |
| 28901032 | CV878802 | single nucleotide variant | NM_001139.3(ALOX12B):c.25G>A (p.Ala9Thr) | Autosomal recessive congenital ichthyosis 2 [RCV001124609] | uncertain significance | 17 | 8087418 | 8087418 | Human | 1 | name |
| 126914879 | CV1038902 | single nucleotide variant | NM_001139.3(ALOX12B):c.88C>T (p.Gln30Ter) | not provided [RCV001358651] | pathogenic | 17 | 8087355 | 8087355 | Human | | name |
| 153305497 | CV1688579 | single nucleotide variant | NM_001139.3(ALOX12B):c.56G>A (p.Arg19Gln) | not specified [RCV002266315] | likely benign | 17 | 8087387 | 8087387 | Human | | name |
| 156410703 | CV1882695 | single nucleotide variant | NM_001139.3(ALOX12B):c.831C>T (p.Ile277=) | not provided [RCV003072177] | likely benign | 17 | 8079865 | 8079865 | Human | | name |
| 156088291 | CV1983892 | single nucleotide variant | NM_001139.3(ALOX12B):c.603C>A (p.Arg201=) | not provided [RCV002621771] | likely benign | 17 | 8080705 | 8080705 | Human | | name |
| 11560260 | CV260200 | deletion | NM_001139.3(ALOX12B):c.242del (p.Pro81fs) | not provided [RCV000256043] | pathogenic | 17 | 8086126 | 8086126 | Human | | name |
| 405093398 | CV3025971 | single nucleotide variant | NM_001139.3(ALOX12B):c.735C>T (p.Gly245=) | not provided [RCV003699784] | uncertain significance | 17 | 8080254 | 8080254 | Human | | name |
| 405801602 | CV3271812 | single nucleotide variant | NM_001139.3(ALOX12B):c.55C>T (p.Arg19Trp) | Inborn genetic diseases [RCV004403510] | uncertain significance | 17 | 8087388 | 8087388 | Human | 1 | name |
| 11623419 | CV330535 | single nucleotide variant | NM_001139.3(ALOX12B):c.324C>T (p.Tyr108=) | ALOX12B-related disorder [RCV004730934]|Autosomal recessive congenital ichthyosis 2 [RCV000372402]|Inborn genetic diseases [RCV004021721]|not provided [RCV000883102] | benign|likely benign|uncertain significance | 17 | 8086044 | 8086044 | Human | 2 | name , trait , alternate_id |
| 11629468 | CV346366 | single nucleotide variant | NM_001139.3(ALOX12B):c.561C>T (p.Leu187=) | ALOX12B-related disorder [RCV003922384]|Autosomal recessive congenital ichthyosis 2 [RCV000324119] | likely benign|uncertain significance | 17 | 8080747 | 8080747 | Human | 1 | name , trait , alternate_id |
| 597698678 | CV3683195 | single nucleotide variant | NM_001139.3(ALOX12B):c.35C>T (p.Thr12Ile) | Inborn genetic diseases [RCV004987649] | uncertain significance | 17 | 8087408 | 8087408 | Human | 1 | name |
| 597871469 | CV3880677 | single nucleotide variant | NM_001139.3(ALOX12B):c.77T>C (p.Ile26Thr) | Autosomal recessive congenital ichthyosis 2 [RCV005215805] | likely pathogenic | 17 | 8087366 | 8087366 | Human | 1 | name |
| 598178531 | CV3975181 | single nucleotide variant | NM_001139.3(ALOX12B):c.39C>A (p.Asp13Glu) | Inborn genetic diseases [RCV005352000] | uncertain significance | 17 | 8087404 | 8087404 | Human | 1 | name |
| 13489904 | CV445916 | deletion | NM_001139.3(ALOX12B):c.292del (p.His98fs) | not provided [RCV000524038] | pathogenic|likely pathogenic | 17 | 8086076 | 8086076 | Human | | name |
| 14696386 | CV622252 | single nucleotide variant | NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu) | Autosomal recessive congenital ichthyosis 2 [RCV000782405] | likely pathogenic|conflicting interpretations of pathogenicity | 17 | 8087360 | 8087360 | Human | 1 | name |
| 15172057 | CV715815 | single nucleotide variant | NM_001139.3(ALOX12B):c.954C>T (p.Tyr318=) | not provided [RCV000972324] | benign | 17 | 8079513 | 8079513 | Human | | name |
| 41407282 | CV983449 | single nucleotide variant | NM_001139.3(ALOX12B):c.71T>C (p.Leu24Pro) | Autosomal recessive congenital ichthyosis 2 [RCV001289514]|Lamellar ichthyosis [RCV002509651]|not provided [RCV003238858] | pathogenic|likely pathogenic | 17 | 8087372 | 8087372 | Human | 2 | name |
| 41407534 | CV983450 | single nucleotide variant | NM_001139.3(ALOX12B):c.67T>C (p.Ser23Pro) | Autosomal recessive congenital ichthyosis 2 [RCV001289980] | pathogenic | 17 | 8087376 | 8087376 | Human | 1 | name |
| 41407523 | CV983451 | single nucleotide variant | NM_001139.3(ALOX12B):c.58G>T (p.Asp20Tyr) | Autosomal recessive congenital ichthyosis 2 [RCV001289970] | pathogenic | 17 | 8087385 | 8087385 | Human | 1 | name |
| 41407532 | CV983452 | single nucleotide variant | NM_001139.3(ALOX12B):c.47C>T (p.Ser16Leu) | Autosomal recessive congenital ichthyosis 2 [RCV001289978]|not provided [RCV005057217] | pathogenic | 17 | 8087396 | 8087396 | Human | 1 | name |
| 41407536 | CV983453 | single nucleotide variant | NM_001139.3(ALOX12B):c.47C>G (p.Ser16Trp) | Autosomal recessive congenital ichthyosis 2 [RCV001289982] | pathogenic | 17 | 8087396 | 8087396 | Human | 1 | name |
| 156354605 | CV1962285 | single nucleotide variant | NM_001139.3(ALOX12B):c.1572C>T (p.Asp524=) | not provided [RCV002581302] | likely benign | 17 | 8075677 | 8075677 | Human | | name |
| 156285109 | CV2317604 | single nucleotide variant | NM_001139.3(ALOX12B):c.203G>A (p.Arg68His) | Inborn genetic diseases [RCV002935190] | uncertain significance | 17 | 8086165 | 8086165 | Human | 1 | name |
| 156163011 | CV2389521 | single nucleotide variant | NM_001139.3(ALOX12B):c.287T>C (p.Ile96Thr) | Inborn genetic diseases [RCV002764841] | uncertain significance | 17 | 8086081 | 8086081 | Human | 1 | name |
| 11632586 | CV264881 | single nucleotide variant | NM_001139.3(ALOX12B):c.252C>A (p.Cys84Ter) | not provided [RCV000267897] | pathogenic | 17 | 8086116 | 8086116 | Human | | name |
| 401796852 | CV2739827 | single nucleotide variant | NM_001139.3(ALOX12B):c.214G>A (p.Glu72Lys) | not provided [RCV003319788] | uncertain significance | 17 | 8086154 | 8086154 | Human | | name |
| 405032010 | CV3074919 | single nucleotide variant | NM_001139.3(ALOX12B):c.1329C>T (p.Ala443=) | ALOX12B-related disorder [RCV003929343]|not provided [RCV003739219] | likely benign | 17 | 8076690 | 8076690 | Human | 1 | name , trait , alternate_id |
| 405255380 | CV3172361 | duplication | NM_001139.3(ALOX12B):c.799dup (p.Gln267fs) | Autosomal recessive congenital ichthyosis 2 [RCV005030353]|not provided [RCV003872299] | pathogenic|likely pathogenic | 17 | 8079896 | 8079897 | Human | 1 | name |
| 405294313 | CV3214783 | single nucleotide variant | NM_001139.3(ALOX12B):c.1431C>T (p.Asp477=) | ALOX12B-related disorder [RCV003934201]|not provided [RCV005426274] | likely benign | 17 | 8076276 | 8076276 | Human | 1 | name , trait , alternate_id |
| 11618620 | CV340753 | single nucleotide variant | NM_001139.3(ALOX12B):c.1854G>T (p.Thr618=) | Autosomal recessive congenital ichthyosis 2 [RCV000315763] | uncertain significance | 17 | 8073220 | 8073220 | Human | 1 | name |
| 11658238 | CV340759 | single nucleotide variant | NM_001139.3(ALOX12B):c.1413G>A (p.Leu471=) | Autosomal recessive congenital ichthyosis 2 [RCV000347385] | uncertain significance | 17 | 8076294 | 8076294 | Human | 1 | name |
| 11625437 | CV340763 | single nucleotide variant | NM_001139.3(ALOX12B):c.1179C>T (p.His393=) | Autosomal recessive congenital ichthyosis 2 [RCV000398440]|not provided [RCV000959368] | benign|likely benign|uncertain significance | 17 | 8077086 | 8077086 | Human | 1 | name |
| 11618301 | CV340772 | single nucleotide variant | NM_001139.3(ALOX12B):c.163G>A (p.Val55Met) | Autosomal recessive congenital ichthyosis 2 [RCV000312435] | uncertain significance | 17 | 8086205 | 8086205 | Human | 1 | name |
| 407517266 | CV3455516 | single nucleotide variant | NM_001139.3(ALOX12B):c.202C>T (p.Arg68Cys) | Inborn genetic diseases [RCV004628474] | uncertain significance | 17 | 8086166 | 8086166 | Human | 1 | name |
| 11631994 | CV346376 | single nucleotide variant | NM_001139.3(ALOX12B):c.280G>A (p.Gly94Ser) | Autosomal recessive congenital ichthyosis 2 [RCV000394469]|not provided [RCV000947766] | benign|uncertain significance | 17 | 8086088 | 8086088 | Human | 1 | name |
| 11629051 | CV347730 | single nucleotide variant | NM_001139.3(ALOX12B):c.1050G>A (p.Lys350=) | Autosomal recessive congenital ichthyosis 2 [RCV000313860] | uncertain significance | 17 | 8079417 | 8079417 | Human | 1 | name |
| 408379072 | CV3515019 | single nucleotide variant | NM_001139.3(ALOX12B):c.1350G>T (p.Gly450=) | ALOX12B-related disorder [RCV004752540] | likely benign | 17 | 8076669 | 8076669 | Human | | name , trait , alternate_id |
| 408381134 | CV3523772 | single nucleotide variant | NM_001139.3(ALOX12B):c.284G>A (p.Arg95His) | not provided [RCV004766170] | uncertain significance | 17 | 8086084 | 8086084 | Human | | name |
| 597698692 | CV3683217 | single nucleotide variant | NM_001139.3(ALOX12B):c.272C>T (p.Ala91Val) | Inborn genetic diseases [RCV004987651] | uncertain significance | 17 | 8086096 | 8086096 | Human | 1 | name |
| 597854477 | CV3747617 | single nucleotide variant | NM_001139.3(ALOX12B):c.1188C>T (p.Ile396=) | not provided [RCV005066628] | likely benign | 17 | 8077077 | 8077077 | Human | | name |
| 597859919 | CV3782810 | single nucleotide variant | NM_001139.3(ALOX12B):c.200T>A (p.Ile67Asn) | not provided [RCV005134350] | likely pathogenic | 17 | 8086168 | 8086168 | Human | | name |
| 598124995 | CV3885519 | single nucleotide variant | NM_001139.3(ALOX12B):c.245G>C (p.Trp82Ser) | not specified [RCV005240097] | uncertain significance | 17 | 8086123 | 8086123 | Human | | name |
| 598217734 | CV3895393 | single nucleotide variant | NM_001139.3(ALOX12B):c.1926G>A (p.Arg642=) | Autosomal recessive congenital ichthyosis 2 [RCV005360275] | uncertain significance | 17 | 8073148 | 8073148 | Human | 1 | name |
| 13486236 | CV445917 | single nucleotide variant | NM_001139.3(ALOX12B):c.166C>T (p.Gln56Ter) | not provided [RCV000522841] | likely pathogenic | 17 | 8086202 | 8086202 | Human | | name |
| 8604284 | CV48146 | single nucleotide variant | NM_001139.3(ALOX12B):c.199A>T (p.Ile67Phe) | Autosomal recessive congenital ichthyosis 2 [RCV000032745] | pathogenic | 17 | 8086169 | 8086169 | Human | 1 | name |
| 14688215 | CV620613 | single nucleotide variant | NM_001139.3(ALOX12B):c.235A>T (p.Lys79Ter) | Autosomal recessive congenital ichthyosis 2 [RCV000779238] | uncertain significance | 17 | 8086133 | 8086133 | Human | | name |
| 14704431 | CV626264 | single nucleotide variant | NM_001139.3(ALOX12B):c.1566G>T (p.Pro522=) | not provided [RCV000791166] | conflicting interpretations of pathogenicity|uncertain significance | 17 | 8075683 | 8075683 | Human | | name |
| 15195815 | CV727553 | single nucleotide variant | NM_001139.3(ALOX12B):c.1512G>A (p.Ala504=) | ALOX12B-related disorder [RCV003940643]|not provided [RCV000889609] | likely benign | 17 | 8076195 | 8076195 | Human | 1 | name , trait , alternate_id |
| 15139215 | CV756261 | single nucleotide variant | NM_001139.3(ALOX12B):c.1497C>T (p.Arg499=) | Autosomal recessive congenital ichthyosis 2 [RCV001127392]|not provided [RCV000921467] | likely benign|uncertain significance | 17 | 8076210 | 8076210 | Human | 1 | name |
| 15166022 | CV756262 | single nucleotide variant | NM_001139.3(ALOX12B):c.1440C>T (p.Tyr480=) | not provided [RCV000926769] | likely benign | 17 | 8076267 | 8076267 | Human | | name |
| 15106572 | CV756263 | single nucleotide variant | NM_001139.3(ALOX12B):c.1101C>T (p.Pro367=) | Autosomal recessive congenital ichthyosis 2 [RCV001123322]|not provided [RCV000915780] | likely benign|uncertain significance | 17 | 8077164 | 8077164 | Human | 1 | name |
| 15133819 | CV771969 | single nucleotide variant | NM_001139.3(ALOX12B):c.1461G>A (p.Glu487=) | not provided [RCV000942634] | likely benign | 17 | 8076246 | 8076246 | Human | | name |
| 28900332 | CV878790 | single nucleotide variant | NM_001139.3(ALOX12B):c.2082G>T (p.Leu694=) | Autosomal recessive congenital ichthyosis 2 [RCV001124314] | uncertain significance | 17 | 8072795 | 8072795 | Human | 1 | name |
| 28906291 | CV878792 | single nucleotide variant | NM_001139.3(ALOX12B):c.1842C>T (p.Thr614=) | Autosomal recessive congenital ichthyosis 2 [RCV001126976] | uncertain significance | 17 | 8073232 | 8073232 | Human | 1 | name |
| 28907487 | CV878801 | single nucleotide variant | NM_001139.3(ALOX12B):c.228C>A (p.Phe76Leu) | Autosomal recessive congenital ichthyosis 2 [RCV001127619] | uncertain significance | 17 | 8086140 | 8086140 | Human | 1 | name |
| 41407276 | CV983426 | deletion | NM_001139.3(ALOX12B):c.864del (p.Val289fs) | Autosomal recessive congenital ichthyosis 2 [RCV001289506] | pathogenic | 17 | 8079832 | 8079832 | Human | 1 | name |
| 41407301 | CV983444 | single nucleotide variant | NM_001139.3(ALOX12B):c.297C>A (p.Phe99Leu) | Autosomal recessive congenital ichthyosis 2 [RCV001289534] | pathogenic | 17 | 8086071 | 8086071 | Human | 1 | name |
| 41407467 | CV983447 | single nucleotide variant | NM_001139.3(ALOX12B):c.209A>C (p.His70Pro) | Autosomal recessive congenital ichthyosis 2 [RCV001289922] | pathogenic | 17 | 8086159 | 8086159 | Human | 1 | name |
| 126912087 | CV1038638 | single nucleotide variant | NM_001139.3(ALOX12B):c.583T>C (p.Phe195Leu) | not provided [RCV001356124]|not specified [RCV004800989] | likely benign|uncertain significance | 17 | 8080725 | 8080725 | Human | | name |
| 150422815 | CV1181593 | single nucleotide variant | NM_001139.3(ALOX12B):c.759C>A (p.Tyr253Ter) | not provided [RCV001553158] | pathogenic | 17 | 8079937 | 8079937 | Human | | name |
| 150454000 | CV1276926 | deletion | NM_001139.3(ALOX12B):c.1275+108_1275+118del | not provided [RCV001708717] | benign | 17 | 8076872 | 8076882 | Human | | name |
| 150520517 | CV1289704 | single nucleotide variant | NM_001139.3(ALOX12B):c.805C>T (p.Leu269Phe) | Autosomal recessive congenital ichthyosis 2 [RCV001730123] | likely pathogenic | 17 | 8079891 | 8079891 | Human | 1 | name |
| 150529771 | CV1293179 | single nucleotide variant | NM_001139.3(ALOX12B):c.877A>G (p.Met293Val) | not provided [RCV001756397] | uncertain significance | 17 | 8079819 | 8079819 | Human | | name |
| 151843428 | CV1379904 | single nucleotide variant | NM_001139.3(ALOX12B):c.982G>A (p.Glu328Lys) | not provided [RCV001936396] | uncertain significance | 17 | 8079485 | 8079485 | Human | | name |
| 151743001 | CV1430996 | duplication | NM_001139.3(ALOX12B):c.1158dup (p.Tyr387fs) | Autosomal recessive congenital ichthyosis 2 [RCV005023403]|not provided [RCV001893456] | pathogenic|likely pathogenic | 17 | 8077106 | 8077107 | Human | 1 | name |
| 155688985 | CV1777843 | single nucleotide variant | NM_001139.3(ALOX12B):c.809A>G (p.Asn270Ser) | not provided [RCV002299192] | uncertain significance | 17 | 8079887 | 8079887 | Human | | name |
| 155800645 | CV1863767 | single nucleotide variant | NM_001139.3(ALOX12B):c.347C>A (p.Ala116Asp) | not provided [RCV002474190] | uncertain significance | 17 | 8086021 | 8086021 | Human | | name |
| 156394116 | CV2019484 | single nucleotide variant | NM_001139.3(ALOX12B):c.326A>C (p.Glu109Ala) | not provided [RCV002725359] | uncertain significance | 17 | 8086042 | 8086042 | Human | | name |
| 8597023 | CV21121 | deletion | NM_001139.3(ALOX12B):c.1389del (p.Phe463fs) | Autosomal recessive congenital ichthyosis 2 [RCV000006455] | pathogenic | 17 | 8076318 | 8076318 | Human | 1 | name |
| 156274113 | CV2254756 | single nucleotide variant | NM_001139.3(ALOX12B):c.634G>T (p.Val212Phe) | Inborn genetic diseases [RCV002792665] | likely benign | 17 | 8080674 | 8080674 | Human | 1 | name |
| 156363324 | CV2265711 | single nucleotide variant | NM_001139.3(ALOX12B):c.664A>G (p.Lys222Glu) | Inborn genetic diseases [RCV002813159] | uncertain significance | 17 | 8080325 | 8080325 | Human | 1 | name |
| 155901066 | CV2298168 | single nucleotide variant | NM_001139.3(ALOX12B):c.620C>A (p.Thr207Lys) | Inborn genetic diseases [RCV002901074] | uncertain significance | 17 | 8080688 | 8080688 | Human | 1 | name |
| 405142222 | CV2958780 | duplication | NM_001139.3(ALOX12B):c.1018dup (p.Leu340fs) | not provided [RCV003673333] | pathogenic | 17 | 8079448 | 8079449 | Human | | name |
| 402513356 | CV2991427 | deletion | NM_001139.3(ALOX12B):c.1693del (p.Arg565fs) | not provided [RCV003689732] | pathogenic | 17 | 8073719 | 8073719 | Human | | name |
| 405801609 | CV3271815 | single nucleotide variant | NM_001139.3(ALOX12B):c.638G>T (p.Arg213Leu) | Inborn genetic diseases [RCV004403513] | uncertain significance | 17 | 8080670 | 8080670 | Human | 1 | name |
| 405801631 | CV3271825 | single nucleotide variant | NM_001139.3(ALOX12B):c.832C>T (p.Arg278Cys) | Inborn genetic diseases [RCV004403523] | uncertain significance | 17 | 8079864 | 8079864 | Human | 1 | name |
| 405801633 | CV3271826 | single nucleotide variant | NM_001139.3(ALOX12B):c.858G>T (p.Lys286Asn) | Inborn genetic diseases [RCV004403524] | uncertain significance | 17 | 8079838 | 8079838 | Human | 1 | name |
| 405801640 | CV3271829 | single nucleotide variant | NM_001139.3(ALOX12B):c.898G>A (p.Glu300Lys) | Inborn genetic diseases [RCV004403527] | uncertain significance | 17 | 8079798 | 8079798 | Human | 1 | name |
| 11613012 | CV330531 | single nucleotide variant | NM_001139.3(ALOX12B):c.567C>A (p.Asn189Lys) | Autosomal recessive congenital ichthyosis 2 [RCV000264460] | uncertain significance | 17 | 8080741 | 8080741 | Human | 1 | name |
| 11614865 | CV340771 | single nucleotide variant | NM_001139.3(ALOX12B):c.301G>A (p.Ala101Thr) | Autosomal recessive congenital ichthyosis 2 [RCV000280497]|not provided [RCV003765890] | likely benign|uncertain significance | 17 | 8086067 | 8086067 | Human | 1 | name |
| 407517241 | CV3455507 | single nucleotide variant | NM_001139.3(ALOX12B):c.823G>T (p.Gly275Cys) | Inborn genetic diseases [RCV004628466] | uncertain significance | 17 | 8079873 | 8079873 | Human | 1 | name |
| 407511930 | CV3455527 | single nucleotide variant | NM_001139.3(ALOX12B):c.503G>A (p.Arg168Lys) | Inborn genetic diseases [RCV004626627] | uncertain significance | 17 | 8080908 | 8080908 | Human | 1 | name |
| 11628350 | CV346365 | single nucleotide variant | NM_001139.3(ALOX12B):c.715A>G (p.Ile239Val) | Autosomal recessive congenital ichthyosis 2 [RCV000299741]|Inborn genetic diseases [RCV004021720] | uncertain significance | 17 | 8080274 | 8080274 | Human | 2 | name |
| 11626822 | CV346373 | single nucleotide variant | NM_001139.3(ALOX12B):c.526G>A (p.Glu176Lys) | Autosomal recessive congenital ichthyosis 2 [RCV000270215]|not provided [RCV002523034]|not specified [RCV002298570] | uncertain significance | 17 | 8080885 | 8080885 | Human | 1 | name |
| 596920699 | CV3534150 | single nucleotide variant | NM_001139.3(ALOX12B):c.324C>G (p.Tyr108Ter) | Lamellar ichthyosis [RCV004783369] | pathogenic | 17 | 8086044 | 8086044 | Human | 1 | name |
| 596925105 | CV3541828 | single nucleotide variant | NM_001139.3(ALOX12B):c.802T>C (p.Tyr268His) | Autosomal recessive congenital ichthyosis 2 [RCV004795540] | uncertain significance | 17 | 8079894 | 8079894 | Human | 1 | name |
| 12742470 | CV360345 | single nucleotide variant | NM_001139.3(ALOX12B):c.530G>A (p.Trp177Ter) | Autosomal recessive congenital ichthyosis 2 [RCV005027475]|not provided [RCV000413742] | pathogenic | 17 | 8080778 | 8080778 | Human | 1 | name |
| 597698745 | CV3683246 | single nucleotide variant | NM_001139.3(ALOX12B):c.718A>G (p.Arg240Gly) | Inborn genetic diseases [RCV004987660] | uncertain significance | 17 | 8080271 | 8080271 | Human | 1 | name |
| 597629221 | CV3712444 | deletion | NM_001139.3(ALOX12B):c.1861del (p.Asp621fs) | Autosomal recessive congenital ichthyosis 2 [RCV005022820] | likely pathogenic | 17 | 8073213 | 8073213 | Human | 1 | name |
| 597950327 | CV3759675 | single nucleotide variant | NM_001139.3(ALOX12B):c.311G>A (p.Trp104Ter) | not provided [RCV005079275] | pathogenic | 17 | 8086057 | 8086057 | Human | | name |
| 12896829 | CV390231 | single nucleotide variant | NM_001139.3(ALOX12B):c.379C>T (p.Pro127Ser) | Autosomal recessive congenital ichthyosis 2 [RCV001125417]|not provided [RCV001653782]|not specified [RCV000455882] | benign|likely benign | 17 | 8081161 | 8081161 | Human | 1 | name |
| 598248347 | CV3975201 | single nucleotide variant | NM_001139.3(ALOX12B):c.748G>C (p.Val250Leu) | Inborn genetic diseases [RCV005345429] | uncertain significance | 17 | 8080241 | 8080241 | Human | 1 | name |
| 598248372 | CV3975215 | single nucleotide variant | NM_001139.3(ALOX12B):c.350C>T (p.Thr117Ile) | Inborn genetic diseases [RCV005345434] | uncertain significance | 17 | 8086018 | 8086018 | Human | 1 | name |
| 598178721 | CV3975226 | single nucleotide variant | NM_001139.3(ALOX12B):c.608C>T (p.Ser203Phe) | Inborn genetic diseases [RCV005352032] | uncertain significance | 17 | 8080700 | 8080700 | Human | 1 | name |
| 598178473 | CV3978949 | single nucleotide variant | NM_001139.3(ALOX12B):c.974C>G (p.Pro325Arg) | Inborn genetic diseases [RCV005351991] | uncertain significance | 17 | 8079493 | 8079493 | Human | 1 | name |
| 616934303 | CV4012299 | single nucleotide variant | NM_001139.3(ALOX12B):c.772T>C (p.Trp258Arg) | not specified [RCV005409335] | uncertain significance | 17 | 8079924 | 8079924 | Human | | name |
| 12899042 | CV410307 | single nucleotide variant | NM_001139.3(ALOX12B):c.673G>A (p.Gly225Ser) | not provided [RCV000479292] | uncertain significance | 17 | 8080316 | 8080316 | Human | | name |
| 12906971 | CV415591 | single nucleotide variant | NM_001139.3(ALOX12B):c.397A>G (p.Arg133Gly) | not provided [RCV000489870] | likely pathogenic | 17 | 8081143 | 8081143 | Human | | name |
| 13212508 | CV426259 | single nucleotide variant | NM_001139.3(ALOX12B):c.791T>C (p.Phe264Ser) | not provided [RCV000498911] | uncertain significance | 17 | 8079905 | 8079905 | Human | | name |
| 8604276 | CV48137 | single nucleotide variant | NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp) | Autosomal recessive congenital ichthyosis 2 [RCV000032736]|not provided [RCV003992165] | pathogenic|likely pathogenic | 17 | 8086028 | 8086028 | Human | 1 | name |
| 8604280 | CV48141 | single nucleotide variant | NM_001139.3(ALOX12B):c.410T>A (p.Ile137Asn) | Autosomal recessive congenital ichthyosis 2 [RCV000032740]|not provided [RCV000487263]|not specified [RCV003478981] | pathogenic|uncertain significance | 17 | 8081130 | 8081130 | Human | 1 | name |
| 14696269 | CV622246 | duplication | NM_001139.3(ALOX12B):c.1350dup (p.Leu451fs) | Autosomal recessive congenital ichthyosis 2 [RCV000782413]|not provided [RCV002225728] | pathogenic|likely pathogenic | 17 | 8076668 | 8076669 | Human | 1 | name |
| 14696396 | CV622249 | single nucleotide variant | NM_001139.3(ALOX12B):c.787T>C (p.Phe263Leu) | Autosomal recessive congenital ichthyosis 2 [RCV000782412] | uncertain significance | 17 | 8079909 | 8079909 | Human | 1 | name |
| 14696388 | CV622250 | single nucleotide variant | NM_001139.3(ALOX12B):c.338T>C (p.Leu113Pro) | Autosomal recessive congenital ichthyosis 2 [RCV000782406] | likely pathogenic | 17 | 8086030 | 8086030 | Human | 1 | name |
| 28891581 | CV860449 | deletion | NM_001139.3(ALOX12B):c.1153del (p.Val385fs) | not provided [RCV001092406] | pathogenic | 17 | 8077112 | 8077112 | Human | | name |
| 28900561 | CV878799 | single nucleotide variant | NM_001139.3(ALOX12B):c.380C>T (p.Pro127Leu) | Autosomal recessive congenital ichthyosis 2 [RCV001124416] | uncertain significance | 17 | 8081160 | 8081160 | Human | 1 | name |
| 28903167 | CV878800 | single nucleotide variant | NM_001139.3(ALOX12B):c.345G>T (p.Glu115Asp) | Autosomal recessive congenital ichthyosis 2 [RCV001125519] | uncertain significance | 17 | 8086023 | 8086023 | Human | 1 | name |
| 28890332 | CV903625 | single nucleotide variant | NM_001139.3(ALOX12B):c.305A>G (p.Tyr102Cys) | not provided [RCV001169999] | likely pathogenic | 17 | 8086063 | 8086063 | Human | | name |
| 38460958 | CV919782 | single nucleotide variant | NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro) | Autosomal recessive congenital ichthyosis 2 [RCV001197085] | likely pathogenic|conflicting interpretations of pathogenicity | 17 | 8079523 | 8079523 | Human | 1 | name |
| 40815393 | CV971099 | duplication | NM_001139.3(ALOX12B):c.1272dup (p.Lys425fs) | Autosomal recessive congenital ichthyosis 2 [RCV001262748]|Lamellar ichthyosis [RCV003226454]|not provided [RCV001838469] | pathogenic | 17 | 8076992 | 8076993 | Human | 2 | name |
| 41408186 | CV980961 | single nucleotide variant | NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn) | Autosomal recessive congenital ichthyosis 2 [RCV001283779] | likely pathogenic|uncertain significance | 17 | 8079866 | 8079866 | Human | 1 | name |
| 41407485 | CV983371 | deletion | NM_001139.3(ALOX12B):c.2012del (p.Gln671fs) | Autosomal recessive congenital ichthyosis 2 [RCV001289935] | pathogenic | 17 | 8072865 | 8072865 | Human | 1 | name |
| 41407514 | CV983373 | deletion | NM_001139.3(ALOX12B):c.1977del (p.Arg660fs) | Autosomal recessive congenital ichthyosis 2 [RCV001289962] | pathogenic | 17 | 8072900 | 8072900 | Human | 1 | name |
| 41407281 | CV983375 | duplication | NM_001139.3(ALOX12B):c.1937dup (p.His647fs) | Autosomal recessive congenital ichthyosis 2 [RCV001289512] | pathogenic | 17 | 8072939 | 8072940 | Human | 1 | name |
| 41407297 | CV983404 | deletion | NM_001139.3(ALOX12B):c.1350del (p.Leu451fs) | Autosomal recessive congenital ichthyosis 2 [RCV001289530] | pathogenic | 17 | 8076669 | 8076669 | Human | 1 | name |
| 41407460 | CV983421 | deletion | NM_001139.3(ALOX12B):c.1018del (p.Leu340fs) | Autosomal recessive congenital ichthyosis 2 [RCV001289916] | pathogenic | 17 | 8079449 | 8079449 | Human | 1 | name |
| 41407292 | CV983423 | single nucleotide variant | NM_001139.3(ALOX12B):c.938T>C (p.Ile313Thr) | Autosomal recessive congenital ichthyosis 2 [RCV001289525] | pathogenic|uncertain significance | 17 | 8079529 | 8079529 | Human | 1 | name |
| 41407525 | CV983425 | single nucleotide variant | NM_001139.3(ALOX12B):c.893T>C (p.Leu298Pro) | Autosomal recessive congenital ichthyosis 2 [RCV001289972] | pathogenic | 17 | 8079803 | 8079803 | Human | 1 | name |
| 41407526 | CV983428 | single nucleotide variant | NM_001139.3(ALOX12B):c.814G>T (p.Val272Phe) | Autosomal recessive congenital ichthyosis 2 [RCV001289973] | pathogenic | 17 | 8079882 | 8079882 | Human | 1 | name |
| 41407524 | CV983429 | single nucleotide variant | NM_001139.3(ALOX12B):c.793G>A (p.Gly265Arg) | Autosomal recessive congenital ichthyosis 2 [RCV001289971] | pathogenic | 17 | 8079903 | 8079903 | Human | 1 | name |
| 41407531 | CV983432 | single nucleotide variant | NM_001139.3(ALOX12B):c.769C>G (p.His257Asp) | Autosomal recessive congenital ichthyosis 2 [RCV001289977]|not provided [RCV001724288] | pathogenic|likely pathogenic|uncertain significance | 17 | 8079927 | 8079927 | Human | 1 | name |
| 41407288 | CV983434 | single nucleotide variant | NM_001139.3(ALOX12B):c.698G>A (p.Trp233Ter) | Autosomal recessive congenital ichthyosis 2 [RCV001289520] | pathogenic | 17 | 8080291 | 8080291 | Human | 1 | name |
| 41407488 | CV983439 | single nucleotide variant | NM_001139.3(ALOX12B):c.371A>T (p.Asp124Val) | Autosomal recessive congenital ichthyosis 2 [RCV001289938] | pathogenic | 17 | 8081169 | 8081169 | Human | 1 | name |
| 41407289 | CV983440 | single nucleotide variant | NM_001139.3(ALOX12B):c.341G>A (p.Arg114Gln) | Autosomal recessive congenital ichthyosis 2 [RCV001289522]|not specified [RCV005419072] | pathogenic|uncertain significance | 17 | 8086027 | 8086027 | Human | 1 | name |
| 41407484 | CV983441 | single nucleotide variant | NM_001139.3(ALOX12B):c.325G>T (p.Glu109Ter) | Autosomal recessive congenital ichthyosis 2 [RCV001289934] | pathogenic | 17 | 8086043 | 8086043 | Human | 1 | name |
| 41407283 | CV983442 | single nucleotide variant | NM_001139.3(ALOX12B):c.307C>T (p.Gln103Ter) | Autosomal recessive congenital ichthyosis 2 [RCV001289515] | pathogenic | 17 | 8086061 | 8086061 | Human | 1 | name |
| 41407508 | CV983443 | single nucleotide variant | NM_001139.3(ALOX12B):c.299C>T (p.Pro100Leu) | Autosomal recessive congenital ichthyosis 2 [RCV001289959] | pathogenic | 17 | 8086069 | 8086069 | Human | 1 | name |
| 126744134 | CV1018389 | single nucleotide variant | NM_001139.3(ALOX12B):c.1496G>A (p.Arg499His) | Autosomal recessive congenital ichthyosis 2 [RCV001330370]|not provided [RCV001871811]|not specified [RCV005236808] | likely pathogenic|uncertain significance | 17 | 8076211 | 8076211 | Human | 1 | name |
| 126744129 | CV1018390 | single nucleotide variant | NM_001139.3(ALOX12B):c.1126T>C (p.Trp376Arg) | Autosomal recessive congenital ichthyosis 2 [RCV001330369] | uncertain significance | 17 | 8077139 | 8077139 | Human | 1 | name |
| 150452758 | CV1275325 | single nucleotide variant | NM_001139.3(ALOX12B):c.1144A>G (p.Lys382Glu) | Autosomal recessive congenital ichthyosis 2 [RCV001706838] | uncertain significance | 17 | 8077121 | 8077121 | Human | 1 | name |
| 150545371 | CV1293771 | single nucleotide variant | NM_001139.3(ALOX12B):c.1412T>C (p.Leu471Pro) | not provided [RCV001762952] | uncertain significance | 17 | 8076295 | 8076295 | Human | | name |
| 151739323 | CV1390189 | single nucleotide variant | NM_001139.3(ALOX12B):c.1349G>C (p.Gly450Ala) | not provided [RCV001893113] | uncertain significance | 17 | 8076670 | 8076670 | Human | | name |
| 152164592 | CV1625437 | single nucleotide variant | NM_001139.3(ALOX12B):c.1229G>T (p.Cys410Phe) | ALOX12B-related disorder [RCV003903434]|not provided [RCV002160280] | benign|likely benign|conflicting interpretations of pathogenicity | 17 | 8077036 | 8077036 | Human | 1 | name , trait , alternate_id |
| 156405237 | CV1913008 | single nucleotide variant | NM_001139.3(ALOX12B):c.1303G>A (p.Val435Ile) | not provided [RCV002606284] | uncertain significance | 17 | 8076716 | 8076716 | Human | | name |
| 156357899 | CV2006737 | single nucleotide variant | NM_001139.3(ALOX12B):c.1375G>A (p.Gly459Ser) | not provided [RCV002676051] | uncertain significance | 17 | 8076332 | 8076332 | Human | | name |
| 155984331 | CV2070288 | single nucleotide variant | NM_001139.3(ALOX12B):c.1793C>T (p.Ser598Phe) | not provided [RCV002842671] | uncertain significance | 17 | 8073281 | 8073281 | Human | | name |
| 156139591 | CV2082247 | single nucleotide variant | NM_001139.3(ALOX12B):c.1463G>C (p.Arg488Pro) | not provided [RCV002871934] | pathogenic|uncertain significance | 17 | 8076244 | 8076244 | Human | | name |
| 10404717 | CV209356 | single nucleotide variant | NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) | Autosomal recessive congenital ichthyosis 2 [RCV000193750]|not provided [RCV000421593] | pathogenic|likely pathogenic | 17 | 8075670 | 8075670 | Human | 1 | name |
| 8597024 | CV21122 | single nucleotide variant | NM_001139.3(ALOX12B):c.1277T>C (p.Leu426Pro) | Autosomal recessive congenital ichthyosis 2 [RCV000006456] | pathogenic | 17 | 8076742 | 8076742 | Human | 1 | name |
| 8597025 | CV21123 | single nucleotide variant | NM_001139.3(ALOX12B):c.1734C>A (p.His578Gln) | Autosomal recessive congenital ichthyosis 2 [RCV000006457] | pathogenic | 17 | 8073678 | 8073678 | Human | 1 | name |
| 156227143 | CV2115381 | single nucleotide variant | NM_001139.3(ALOX12B):c.1273A>T (p.Lys425Ter) | not provided [RCV002918793] | pathogenic | 17 | 8076992 | 8076992 | Human | | name |
| 156026483 | CV2145722 | single nucleotide variant | NM_001139.3(ALOX12B):c.1290T>A (p.His430Gln) | not provided [RCV003018484] | uncertain significance | 17 | 8076729 | 8076729 | Human | | name |
| 156025468 | CV2273981 | single nucleotide variant | NM_001139.3(ALOX12B):c.1941C>G (p.His647Gln) | Inborn genetic diseases [RCV002844969] | uncertain significance | 17 | 8072936 | 8072936 | Human | 1 | name |
| 156030000 | CV2278678 | single nucleotide variant | NM_001139.3(ALOX12B):c.1345G>C (p.Gly449Arg) | Inborn genetic diseases [RCV002845316] | uncertain significance | 17 | 8076674 | 8076674 | Human | 1 | name |
| 156180549 | CV2374762 | single nucleotide variant | NM_001139.3(ALOX12B):c.1406G>A (p.Arg469Gln) | Inborn genetic diseases [RCV002699355] | uncertain significance | 17 | 8076301 | 8076301 | Human | 1 | name |
| 11560079 | CV260198 | single nucleotide variant | NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu) | Autosomal recessive congenital ichthyosis 2 [RCV001289939]|Lamellar ichthyosis [RCV003155138]|not provided [RCV000255637] | pathogenic|likely pathogenic | 17 | 8073284 | 8073284 | Human | 2 | name |
| 11559829 | CV260199 | single nucleotide variant | NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys) | Autosomal recessive congenital ichthyosis 2 [RCV001289511]|not provided [RCV000255072] | pathogenic|likely pathogenic | 17 | 8077109 | 8077109 | Human | 1 | name |
| 329951804 | CV2671459 | single nucleotide variant | NM_001139.3(ALOX12B):c.1235C>A (p.Ala412Asp) | Autosomal recessive congenital ichthyosis 2 [RCV003236683] | uncertain significance | 17 | 8077030 | 8077030 | Human | 1 | name |
| 401752569 | CV2682864 | single nucleotide variant | NM_001139.3(ALOX12B):c.1573G>A (p.Ala525Thr) | Inborn genetic diseases [RCV003254376] | uncertain significance | 17 | 8075676 | 8075676 | Human | 1 | name |
| 405055022 | CV2890384 | single nucleotide variant | NM_001139.3(ALOX12B):c.1615G>A (p.Glu539Lys) | not provided [RCV003580072] | uncertain significance | 17 | 8075634 | 8075634 | Human | | name |
| 405208444 | CV2909236 | single nucleotide variant | NM_001139.3(ALOX12B):c.2088G>C (p.Glu696Asp) | not provided [RCV003566789] | uncertain significance | 17 | 8072789 | 8072789 | Human | | name |
| 405248056 | CV2983925 | single nucleotide variant | NM_001139.3(ALOX12B):c.1517G>A (p.Trp506Ter) | not provided [RCV003685874] | pathogenic | 17 | 8076190 | 8076190 | Human | | name |
| 405217705 | CV3034744 | single nucleotide variant | NM_001139.3(ALOX12B):c.1462C>T (p.Arg488Cys) | not provided [RCV003709536] | pathogenic|uncertain significance | 17 | 8076245 | 8076245 | Human | | name |
| 405801559 | CV3271792 | single nucleotide variant | NM_001139.3(ALOX12B):c.1001A>G (p.Gln334Arg) | Inborn genetic diseases [RCV004403490] | uncertain significance | 17 | 8079466 | 8079466 | Human | 1 | name |
| 405801563 | CV3271794 | single nucleotide variant | NM_001139.3(ALOX12B):c.1295G>A (p.Arg432Gln) | Inborn genetic diseases [RCV004403492] | uncertain significance | 17 | 8076724 | 8076724 | Human | 1 | name |
| 405801582 | CV3271803 | single nucleotide variant | NM_001139.3(ALOX12B):c.1655G>A (p.Gly552Asp) | Inborn genetic diseases [RCV004403501] | uncertain significance | 17 | 8073757 | 8073757 | Human | 1 | name |
| 405801588 | CV3271806 | single nucleotide variant | NM_001139.3(ALOX12B):c.2012A>G (p.Gln671Arg) | Inborn genetic diseases [RCV004403504] | uncertain significance | 17 | 8072865 | 8072865 | Human | 1 | name |
| 405801597 | CV3271810 | single nucleotide variant | NM_001139.3(ALOX12B):c.2066A>G (p.Tyr689Cys) | Inborn genetic diseases [RCV004403508] | uncertain significance | 17 | 8072811 | 8072811 | Human | 1 | name |
| 11661441 | CV330522 | single nucleotide variant | NM_001139.3(ALOX12B):c.1570G>A (p.Asp524Asn) | Autosomal recessive congenital ichthyosis 2 [RCV000376337] | uncertain significance | 17 | 8075679 | 8075679 | Human | 1 | name |
| 11615487 | CV330523 | single nucleotide variant | NM_001139.3(ALOX12B):c.1565C>T (p.Pro522Leu) | Autosomal recessive congenital ichthyosis 2 [RCV000286517]|not provided [RCV000900138] | benign|likely benign|uncertain significance | 17 | 8075684 | 8075684 | Human | 1 | name |
| 11621988 | CV330530 | single nucleotide variant | NM_001139.3(ALOX12B):c.1040C>T (p.Pro347Leu) | Autosomal recessive congenital ichthyosis 2 [RCV000354653]|Inborn genetic diseases [RCV004629189]|not provided [RCV001764295] | uncertain significance | 17 | 8079427 | 8079427 | Human | 2 | name |
| 405854235 | CV3392921 | single nucleotide variant | NM_001139.3(ALOX12B):c.1448A>G (p.Asn483Ser) | not specified [RCV004527078] | uncertain significance | 17 | 8076259 | 8076259 | Human | | name |
| 11624135 | CV340757 | single nucleotide variant | NM_001139.3(ALOX12B):c.1541C>T (p.Thr514Met) | Congenital ichthyosiform erythroderma [RCV000382037] | uncertain significance | 17 | 8075708 | 8075708 | Human | 2 | name |
| 11662868 | CV340769 | single nucleotide variant | NM_001139.3(ALOX12B):c.1004A>G (p.His335Arg) | Congenital ichthyosiform erythroderma [RCV000390018] | uncertain significance | 17 | 8079463 | 8079463 | Human | 2 | name |
| 407517185 | CV3455485 | single nucleotide variant | NM_001139.3(ALOX12B):c.1318A>G (p.Ile440Val) | Inborn genetic diseases [RCV004628447] | uncertain significance | 17 | 8076701 | 8076701 | Human | 1 | name |
| 407517213 | CV3455496 | single nucleotide variant | NM_001139.3(ALOX12B):c.1726G>C (p.Ala576Pro) | Inborn genetic diseases [RCV004628457] | uncertain significance | 17 | 8073686 | 8073686 | Human | 1 | name |
| 11632089 | CV346363 | single nucleotide variant | NM_001139.3(ALOX12B):c.1394G>T (p.Gly465Val) | ALOX12B-related disorder [RCV003912358]|Autosomal recessive congenital ichthyosis 2 [RCV000397420]|not provided [RCV000910551] | likely benign|uncertain significance | 17 | 8076313 | 8076313 | Human | 1 | name , trait , alternate_id |
| 11629364 | CV347725 | single nucleotide variant | NM_001139.3(ALOX12B):c.1592C>T (p.Pro531Leu) | Autosomal recessive congenital ichthyosis 2 [RCV000321416] | uncertain significance | 17 | 8075657 | 8075657 | Human | 1 | name |
| 11654144 | CV347734 | deletion | NM_001139.3(ALOX12B):c.46_48del (p.Ser16del) | Congenital ichthyosiform erythroderma [RCV000315149]|not provided [RCV001550859] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 17 | 8087395 | 8087397 | Human | 2 | name |
| 407502265 | CV3495662 | single nucleotide variant | NM_001139.3(ALOX12B):c.1878C>A (p.Cys626Ter) | not provided [RCV004697502] | likely pathogenic | 17 | 8073196 | 8073196 | Human | | name |
| 596928839 | CV3541693 | single nucleotide variant | NM_001139.3(ALOX12B):c.1693C>T (p.Arg565Ter) | Autosomal recessive congenital ichthyosis 2 [RCV004797567] | pathogenic | 17 | 8073719 | 8073719 | Human | 1 | name |
| 596926574 | CV3542325 | single nucleotide variant | NM_001139.3(ALOX12B):c.1798C>T (p.Arg600Trp) | Autosomal recessive congenital ichthyosis 2 [RCV004796540] | uncertain significance | 17 | 8073276 | 8073276 | Human | 1 | name |
| 596941781 | CV3543859 | duplication | NM_001139.3(ALOX12B):c.1662dup (p.Arg555Ter) | Lamellar ichthyosis [RCV004799848] | pathogenic | 17 | 8073749 | 8073750 | Human | 1 | name |
| 12738980 | CV361028 | single nucleotide variant | NM_001139.3(ALOX12B):c.1859C>A (p.Pro620Gln) | Autosomal recessive congenital ichthyosis 2 [RCV001289513]|Ichthyosis [RCV000414766]|not specified [RCV005238969] | pathogenic|uncertain significance | 17 | 8073215 | 8073215 | Human | 3 | name |
| 597698664 | CV3683166 | single nucleotide variant | NM_001139.3(ALOX12B):c.1046G>A (p.Gly349Asp) | Inborn genetic diseases [RCV004987646] | uncertain significance | 17 | 8079421 | 8079421 | Human | 1 | name |
| 597698668 | CV3683177 | single nucleotide variant | NM_001139.3(ALOX12B):c.1569T>G (p.Ser523Arg) | Inborn genetic diseases [RCV004987647] | uncertain significance | 17 | 8075680 | 8075680 | Human | 1 | name |
| 597698674 | CV3683186 | single nucleotide variant | NM_001139.3(ALOX12B):c.1511C>T (p.Ala504Val) | Inborn genetic diseases [RCV004987648] | uncertain significance | 17 | 8076196 | 8076196 | Human | 1 | name |
| 597698685 | CV3683207 | single nucleotide variant | NM_001139.3(ALOX12B):c.1921G>C (p.Asp641His) | Inborn genetic diseases [RCV004987650] | uncertain significance | 17 | 8073153 | 8073153 | Human | 1 | name |
| 597698735 | CV3683224 | single nucleotide variant | NM_001139.3(ALOX12B):c.1177C>G (p.His393Asp) | Inborn genetic diseases [RCV004987658] | uncertain significance | 17 | 8077088 | 8077088 | Human | 1 | name |
| 597698740 | CV3683235 | single nucleotide variant | NM_001139.3(ALOX12B):c.1189G>A (p.Ala397Thr) | Inborn genetic diseases [RCV004987659] | uncertain significance | 17 | 8077076 | 8077076 | Human | 1 | name |
| 597870870 | CV3749972 | single nucleotide variant | NM_001139.3(ALOX12B):c.1972C>T (p.Pro658Ser) | not provided [RCV005068653] | likely pathogenic | 17 | 8072905 | 8072905 | Human | | name |
| 12840944 | CV375758 | single nucleotide variant | NM_001139.3(ALOX12B):c.1907G>T (p.Ser636Ile) | not provided [RCV000431667] | uncertain significance | 17 | 8073167 | 8073167 | Human | | name |
| 12845878 | CV376789 | single nucleotide variant | NM_001139.3(ALOX12B):c.1163C>T (p.Ala388Val) | Autosomal recessive congenital ichthyosis 2 [RCV001289950]|not provided [RCV000440598] | pathogenic|likely pathogenic|uncertain significance | 17 | 8077102 | 8077102 | Human | 1 | name |
| 597908045 | CV3834163 | single nucleotide variant | NM_001139.3(ALOX12B):c.2069T>C (p.Leu690Pro) | not provided [RCV005182925] | likely pathogenic | 17 | 8072808 | 8072808 | Human | | name |
| 598123468 | CV3884838 | single nucleotide variant | NM_001139.3(ALOX12B):c.1990G>C (p.Ala664Pro) | Lamellar ichthyosis [RCV005238446] | likely pathogenic | 17 | 8072887 | 8072887 | Human | 1 | name |
| 598220909 | CV3891864 | single nucleotide variant | NM_001139.3(ALOX12B):c.1161T>A (p.Tyr387Ter) | Autosomal recessive congenital ichthyosis 2 [RCV005253202] | likely pathogenic | 17 | 8077104 | 8077104 | Human | 1 | name |
| 598217741 | CV3895394 | single nucleotide variant | NM_001139.3(ALOX12B):c.2008A>T (p.Asn670Tyr) | Autosomal recessive congenital ichthyosis 2 [RCV005360276] | uncertain significance | 17 | 8072869 | 8072869 | Human | 1 | name |
| 598178568 | CV3975191 | single nucleotide variant | NM_001139.3(ALOX12B):c.2040C>G (p.Asn680Lys) | Inborn genetic diseases [RCV005352005] | uncertain significance | 17 | 8072837 | 8072837 | Human | 1 | name |
| 598178662 | CV3975209 | single nucleotide variant | NM_001139.3(ALOX12B):c.2075C>G (p.Pro692Arg) | Inborn genetic diseases [RCV005352019] | uncertain significance | 17 | 8072802 | 8072802 | Human | 1 | name |
| 598178761 | CV3975236 | single nucleotide variant | NM_001139.3(ALOX12B):c.2045G>A (p.Cys682Tyr) | Inborn genetic diseases [RCV005352039] | uncertain significance | 17 | 8072832 | 8072832 | Human | 1 | name |
| 616933924 | CV4011897 | single nucleotide variant | NM_001139.3(ALOX12B):c.1654G>T (p.Gly552Cys) | Lamellar ichthyosis [RCV005408446]|not provided [RCV005422620] | pathogenic|likely pathogenic | 17 | 8075595 | 8075595 | Human | 1 | name |
| 12900675 | CV410306 | single nucleotide variant | NM_001139.3(ALOX12B):c.1498G>C (p.Asp500His) | Autosomal recessive congenital ichthyosis 2 [RCV001289920]|not provided [RCV000482923] | pathogenic|uncertain significance | 17 | 8076209 | 8076209 | Human | 1 | name |
| 13212083 | CV426258 | single nucleotide variant | NM_001139.3(ALOX12B):c.1859C>T (p.Pro620Leu) | not provided [RCV000498313] | uncertain significance | 17 | 8073215 | 8073215 | Human | | name |
| 8604277 | CV48138 | single nucleotide variant | NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter) | Autosomal recessive congenital ichthyosis 2 [RCV000032737]|not provided [RCV000760415] | pathogenic|likely pathogenic|uncertain significance | 17 | 8076725 | 8076725 | Human | 1 | name |
| 8604278 | CV48139 | single nucleotide variant | NM_001139.3(ALOX12B):c.2036G>T (p.Arg679Leu) | Autosomal recessive congenital ichthyosis 2 [RCV000032738] | pathogenic | 17 | 8072841 | 8072841 | Human | 1 | name |
| 8604279 | CV48140 | single nucleotide variant | NM_001139.3(ALOX12B):c.1180G>A (p.Glu394Lys) | Autosomal recessive congenital ichthyosis 2 [RCV000032739] | pathogenic | 17 | 8077085 | 8077085 | Human | 1 | name |
| 8604281 | CV48142 | single nucleotide variant | NM_001139.3(ALOX12B):c.1207C>T (p.His403Tyr) | Autosomal recessive congenital ichthyosis 2 [RCV000032741]|not specified [RCV005406766] | pathogenic|uncertain significance | 17 | 8077058 | 8077058 | Human | 1 | name |
| 8604282 | CV48144 | single nucleotide variant | NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp) | Autosomal recessive congenital ichthyosis 2 [RCV000032743]|Congenital ichthyosiform erythroderma [RCV000626762]|Lamellar ichthyosis [RCV002509181]|not provided [RCV000414417] | pathogenic|likely pathogenic|uncertain significance | 17 | 8075607 | 8075607 | Human | 4 | name |
| 8604283 | CV48145 | single nucleotide variant | NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys) | Autosomal recessive congenital ichthyosis 2 [RCV000032744]|Ichthyosis [RCV000414880]|Lamellar ichthyosis [RCV002222361]|not provided [RCV000413764] | pathogenic | 17 | 8075687 | 8075687 | Human | 4 | name |
| 14396524 | CV612323 | single nucleotide variant | NM_001139.3(ALOX12B):c.1214T>G (p.Ile405Ser) | Autosomal recessive congenital ichthyosis 2 [RCV000761504] | uncertain significance | 17 | 8077051 | 8077051 | Human | 1 | name |
| 14696394 | CV622245 | single nucleotide variant | NM_001139.3(ALOX12B):c.1697A>G (p.Tyr566Cys) | Autosomal recessive congenital ichthyosis 2 [RCV000782410] | likely pathogenic | 17 | 8073715 | 8073715 | Human | 1 | name |
| 14696391 | CV622247 | single nucleotide variant | NM_001139.3(ALOX12B):c.1349G>T (p.Gly450Val) | Autosomal recessive congenital ichthyosis 2 [RCV000782408] | uncertain significance | 17 | 8076670 | 8076670 | Human | 1 | name |
| 14696389 | CV622248 | single nucleotide variant | NM_001139.3(ALOX12B):c.1325G>T (p.Arg442Leu) | Autosomal recessive congenital ichthyosis 2 [RCV000782407] | likely pathogenic | 17 | 8076694 | 8076694 | Human | 1 | name |
| 21072283 | CV788917 | single nucleotide variant | NM_001139.3(ALOX12B):c.1958T>G (p.Phe653Cys) | Autosomal recessive congenital ichthyosis 2 [RCV000985210] | uncertain significance | 17 | 8072919 | 8072919 | Human | 1 | name |
| 21075567 | CV797623 | single nucleotide variant | NM_001139.3(ALOX12B):c.1258T>G (p.Cys420Gly) | Autosomal recessive congenital ichthyosis 2 [RCV001289521]|not provided [RCV000996481] | pathogenic|uncertain significance | 17 | 8077007 | 8077007 | Human | 1 | name |
| 28891596 | CV860450 | single nucleotide variant | NM_001139.3(ALOX12B):c.1148C>T (p.Thr383Met) | Autosomal recessive congenital ichthyosis 2 [RCV001289945]|not provided [RCV001092407] | pathogenic|likely pathogenic | 17 | 8077117 | 8077117 | Human | 1 | name |
| 28900334 | CV878791 | single nucleotide variant | NM_001139.3(ALOX12B):c.1966G>A (p.Glu656Lys) | Autosomal recessive congenital ichthyosis 2 [RCV001124315] | uncertain significance | 17 | 8072911 | 8072911 | Human | 1 | name |
| 28906294 | CV878793 | single nucleotide variant | NM_001139.3(ALOX12B):c.1586G>A (p.Gly529Asp) | Autosomal recessive congenital ichthyosis 2 [RCV001126977] | uncertain significance | 17 | 8075663 | 8075663 | Human | 1 | name |
| 28906296 | CV878794 | single nucleotide variant | NM_001139.3(ALOX12B):c.1577C>A (p.Ala526Asp) | Autosomal recessive congenital ichthyosis 2 [RCV001126978] | uncertain significance | 17 | 8075672 | 8075672 | Human | 1 | name |
| 28907104 | CV878795 | single nucleotide variant | NM_001139.3(ALOX12B):c.1460A>G (p.Glu487Gly) | Autosomal recessive congenital ichthyosis 2 [RCV001127393] | uncertain significance | 17 | 8076247 | 8076247 | Human | 1 | name |
| 28907107 | CV878796 | single nucleotide variant | NM_001139.3(ALOX12B):c.1408G>T (p.Ala470Ser) | Autosomal recessive congenital ichthyosis 2 [RCV001127394] | uncertain significance | 17 | 8076299 | 8076299 | Human | 1 | name |
| 28897736 | CV878797 | single nucleotide variant | NM_001139.3(ALOX12B):c.1325G>A (p.Arg442Gln) | Autosomal recessive congenital ichthyosis 2 [RCV001123321]|not provided [RCV005056911] | likely pathogenic|uncertain significance | 17 | 8076694 | 8076694 | Human | 1 | name |
| 28897743 | CV878798 | single nucleotide variant | NM_001139.3(ALOX12B):c.1015C>G (p.Pro339Ala) | Autosomal recessive congenital ichthyosis 2 [RCV001123323] | uncertain significance | 17 | 8079452 | 8079452 | Human | 1 | name |
| 40815218 | CV971098 | single nucleotide variant | NM_001139.3(ALOX12B):c.1799G>A (p.Arg600Gln) | Autosomal recessive congenital ichthyosis 2 [RCV001262494] | likely pathogenic | 17 | 8073275 | 8073275 | Human | 1 | name |
| 41407279 | CV983363 | single nucleotide variant | NM_001139.3(ALOX12B):c.2094C>A (p.Ser698Arg) | Autosomal recessive congenital ichthyosis 2 [RCV001289509]|not provided [RCV005094342] | pathogenic|uncertain significance | 17 | 8072783 | 8072783 | Human | 1 | name |
| 41407481 | CV983364 | single nucleotide variant | NM_001139.3(ALOX12B):c.2064C>G (p.Tyr688Ter) | Autosomal recessive congenital ichthyosis 2 [RCV001289932] | pathogenic | 17 | 8072813 | 8072813 | Human | 1 | name |
| 41407516 | CV983365 | single nucleotide variant | NM_001139.3(ALOX12B):c.2060A>G (p.Tyr687Cys) | Autosomal recessive congenital ichthyosis 2 [RCV001289964] | pathogenic | 17 | 8072817 | 8072817 | Human | 1 | name |
| 41407515 | CV983366 | single nucleotide variant | NM_001139.3(ALOX12B):c.2041A>T (p.Lys681Ter) | Autosomal recessive congenital ichthyosis 2 [RCV001289963] | pathogenic | 17 | 8072836 | 8072836 | Human | 1 | name |
| 41407475 | CV983368 | single nucleotide variant | NM_001139.3(ALOX12B):c.2036G>A (p.Arg679His) | Autosomal recessive congenital ichthyosis 2 [RCV001289927] | pathogenic | 17 | 8072841 | 8072841 | Human | 1 | name |
| 41407473 | CV983369 | single nucleotide variant | NM_001139.3(ALOX12B):c.2035C>A (p.Arg679Ser) | Autosomal recessive congenital ichthyosis 2 [RCV001289926] | pathogenic | 17 | 8072842 | 8072842 | Human | 1 | name |
| 41407299 | CV983372 | single nucleotide variant | NM_001139.3(ALOX12B):c.2000A>C (p.Gln667Pro) | Autosomal recessive congenital ichthyosis 2 [RCV001289532] | pathogenic | 17 | 8072877 | 8072877 | Human | 1 | name |
| 41407468 | CV983374 | single nucleotide variant | NM_001139.3(ALOX12B):c.1963G>A (p.Glu655Lys) | Autosomal recessive congenital ichthyosis 2 [RCV001289923] | pathogenic | 17 | 8072914 | 8072914 | Human | 1 | name |
| 41407512 | CV983376 | single nucleotide variant | NM_001139.3(ALOX12B):c.1936G>A (p.Gly646Arg) | Autosomal recessive congenital ichthyosis 2 [RCV001289961] | pathogenic | 17 | 8072941 | 8072941 | Human | 1 | name |
| 41407518 | CV983378 | single nucleotide variant | NM_001139.3(ALOX12B):c.1871C>T (p.Thr624Ile) | Autosomal recessive congenital ichthyosis 2 [RCV001289966] | pathogenic | 17 | 8073203 | 8073203 | Human | 1 | name |
| 41407486 | CV983379 | single nucleotide variant | NM_001139.3(ALOX12B):c.1861G>T (p.Asp621Tyr) | Autosomal recessive congenital ichthyosis 2 [RCV001289936] | pathogenic | 17 | 8073213 | 8073213 | Human | 1 | name |
| 41407510 | CV983380 | single nucleotide variant | NM_001139.3(ALOX12B):c.1829C>T (p.Thr610Ile) | Autosomal recessive congenital ichthyosis 2 [RCV001289960] | pathogenic | 17 | 8073245 | 8073245 | Human | 1 | name |
| 41407487 | CV983381 | single nucleotide variant | NM_001139.3(ALOX12B):c.1821G>C (p.Lys607Asn) | Autosomal recessive congenital ichthyosis 2 [RCV001289937] | pathogenic | 17 | 8073253 | 8073253 | Human | 1 | name |
| 41407517 | CV983382 | single nucleotide variant | NM_001139.3(ALOX12B):c.1797G>T (p.Met599Ile) | Autosomal recessive congenital ichthyosis 2 [RCV001289965] | pathogenic | 17 | 8073277 | 8073277 | Human | 1 | name |
| 41407293 | CV983383 | single nucleotide variant | NM_001139.3(ALOX12B):c.1787C>T (p.Pro596Leu) | Autosomal recessive congenital ichthyosis 2 [RCV001289526] | pathogenic | 17 | 8073287 | 8073287 | Human | 1 | name |
| 41407476 | CV983384 | single nucleotide variant | NM_001139.3(ALOX12B):c.1742T>G (p.Val581Gly) | Autosomal recessive congenital ichthyosis 2 [RCV001289928] | pathogenic | 17 | 8073670 | 8073670 | Human | 1 | name |
| 41407478 | CV983385 | single nucleotide variant | NM_001139.3(ALOX12B):c.1732C>T (p.His578Tyr) | Autosomal recessive congenital ichthyosis 2 [RCV001289930] | pathogenic | 17 | 8073680 | 8073680 | Human | 1 | name |
| 41407482 | CV983386 | single nucleotide variant | NM_001139.3(ALOX12B):c.1694G>C (p.Arg565Pro) | Autosomal recessive congenital ichthyosis 2 [RCV001289933] | pathogenic | 17 | 8073718 | 8073718 | Human | 1 | name |
| 41407294 | CV983388 | single nucleotide variant | NM_001139.3(ALOX12B):c.1676C>T (p.Thr559Ile) | Autosomal recessive congenital ichthyosis 2 [RCV001289527] | pathogenic | 17 | 8073736 | 8073736 | Human | 1 | name |
| 41407477 | CV983392 | single nucleotide variant | NM_001139.3(ALOX12B):c.1634T>G (p.Leu545Arg) | Autosomal recessive congenital ichthyosis 2 [RCV001289929]|not specified [RCV005236766] | pathogenic|uncertain significance | 17 | 8075615 | 8075615 | Human | 1 | name |
| 41407286 | CV983393 | single nucleotide variant | NM_001139.3(ALOX12B):c.1630T>C (p.Cys544Arg) | Autosomal recessive congenital ichthyosis 2 [RCV001289518] | pathogenic | 17 | 8075619 | 8075619 | Human | 1 | name |
| 41407471 | CV983394 | single nucleotide variant | NM_001139.3(ALOX12B):c.1613A>C (p.Gln538Pro) | Autosomal recessive congenital ichthyosis 2 [RCV001289925] | pathogenic | 17 | 8075636 | 8075636 | Human | 1 | name |
| 41407503 | CV983395 | single nucleotide variant | NM_001139.3(ALOX12B):c.1609G>A (p.Val537Met) | Autosomal recessive congenital ichthyosis 2 [RCV001289955]|not provided [RCV001773593] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 17 | 8075640 | 8075640 | Human | 1 | name |
| 41407506 | CV983396 | single nucleotide variant | NM_001139.3(ALOX12B):c.1594G>A (p.Glu532Lys) | Autosomal recessive congenital ichthyosis 2 [RCV001289958]|not specified [RCV004699275] | pathogenic|uncertain significance | 17 | 8075655 | 8075655 | Human | 1 | name |
| 41407505 | CV983398 | single nucleotide variant | NM_001139.3(ALOX12B):c.1495C>T (p.Arg499Cys) | Autosomal recessive congenital ichthyosis 2 [RCV001289957]|Lamellar ichthyosis [RCV005236767]|not provided [RCV001773594] | pathogenic|likely pathogenic|uncertain significance | 17 | 8076212 | 8076212 | Human | 2 | name |
| 41407290 | CV983399 | single nucleotide variant | NM_001139.3(ALOX12B):c.1463G>A (p.Arg488His) | ALOX12B-related disorder [RCV003405498]|Autosomal recessive congenital ichthyosis 2 [RCV001289523]|Lamellar ichthyosis [RCV002222692] | pathogenic | 17 | 8076244 | 8076244 | Human | 2 | name , trait , alternate_id |
| 41407500 | CV983400 | single nucleotide variant | NM_001139.3(ALOX12B):c.1427A>G (p.Tyr476Cys) | Autosomal recessive congenital ichthyosis 2 [RCV001289952] | pathogenic | 17 | 8076280 | 8076280 | Human | 1 | name |
| 41407466 | CV983401 | single nucleotide variant | NM_001139.3(ALOX12B):c.1405C>T (p.Arg469Trp) | Autosomal recessive congenital ichthyosis 2 [RCV001289921]|not provided [RCV001586112] | pathogenic|likely pathogenic|uncertain significance | 17 | 8076302 | 8076302 | Human | 1 | name |
| 41407504 | CV983402 | single nucleotide variant | NM_001139.3(ALOX12B):c.1385G>A (p.Gly462Asp) | Autosomal recessive congenital ichthyosis 2 [RCV001289956] | pathogenic | 17 | 8076322 | 8076322 | Human | 1 | name |
| 41407502 | CV983403 | single nucleotide variant | NM_001139.3(ALOX12B):c.1369T>C (p.Ser457Pro) | Autosomal recessive congenital ichthyosis 2 [RCV001289954]|not specified [RCV005057216] | pathogenic|uncertain significance | 17 | 8076338 | 8076338 | Human | 1 | name |
| 41407501 | CV983405 | single nucleotide variant | NM_001139.3(ALOX12B):c.1349G>A (p.Gly450Glu) | Autosomal recessive congenital ichthyosis 2 [RCV001289953]|not specified [RCV004770006] | pathogenic|uncertain significance | 17 | 8076670 | 8076670 | Human | 1 | name |
| 41407464 | CV983407 | single nucleotide variant | NM_001139.3(ALOX12B):c.1324C>T (p.Arg442Trp) | Autosomal recessive congenital ichthyosis 2 [RCV001289919]|not specified [RCV003317474] | pathogenic|uncertain significance | 17 | 8076695 | 8076695 | Human | 1 | name |
| 41407298 | CV983408 | single nucleotide variant | NM_001139.3(ALOX12B):c.1309A>T (p.Ile437Phe) | Autosomal recessive congenital ichthyosis 2 [RCV001289531] | pathogenic | 17 | 8076710 | 8076710 | Human | 1 | name |
| 41407496 | CV983409 | single nucleotide variant | NM_001139.3(ALOX12B):c.1265C>T (p.Pro422Leu) | Autosomal recessive congenital ichthyosis 2 [RCV001289947]|not provided [RCV003558795] | pathogenic|likely pathogenic | 17 | 8077000 | 8077000 | Human | 1 | name |
| 41407493 | CV983410 | single nucleotide variant | NM_001139.3(ALOX12B):c.1261C>T (p.His421Tyr) | Autosomal recessive congenital ichthyosis 2 [RCV001289944]|Lamellar ichthyosis [RCV003492244] | pathogenic|likely pathogenic | 17 | 8077004 | 8077004 | Human | 2 | name |
| 41407497 | CV983411 | single nucleotide variant | NM_001139.3(ALOX12B):c.1219G>A (p.Glu407Lys) | Autosomal recessive congenital ichthyosis 2 [RCV001289948]|not specified [RCV005057215] | pathogenic|uncertain significance | 17 | 8077046 | 8077046 | Human | 1 | name |
| 41407302 | CV983412 | single nucleotide variant | NM_001139.3(ALOX12B):c.1211T>G (p.Leu404Arg) | Autosomal recessive congenital ichthyosis 2 [RCV001289535] | pathogenic | 17 | 8077054 | 8077054 | Human | 1 | name |
| 41407498 | CV983413 | single nucleotide variant | NM_001139.3(ALOX12B):c.1192C>T (p.His398Tyr) | Autosomal recessive congenital ichthyosis 2 [RCV001289949]|Lamellar ichthyosis [RCV004699274]|See cases [RCV004797925] | pathogenic|likely pathogenic | 17 | 8077073 | 8077073 | Human | 2 | name |
| 41407495 | CV983414 | single nucleotide variant | NM_001139.3(ALOX12B):c.1157G>A (p.Arg386His) | Autosomal recessive congenital ichthyosis 2 [RCV001289946] | pathogenic|likely pathogenic | 17 | 8077108 | 8077108 | Human | 1 | name |
| 41407492 | CV983415 | single nucleotide variant | NM_001139.3(ALOX12B):c.1127G>A (p.Trp376Ter) | Autosomal recessive congenital ichthyosis 2 [RCV001289943] | pathogenic | 17 | 8077138 | 8077138 | Human | 1 | name |
| 41407491 | CV983416 | single nucleotide variant | NM_001139.3(ALOX12B):c.1078C>G (p.Gln360Glu) | Autosomal recessive congenital ichthyosis 2 [RCV001289942] | pathogenic | 17 | 8077187 | 8077187 | Human | 1 | name |
| 41407490 | CV983419 | single nucleotide variant | NM_001139.3(ALOX12B):c.1057C>A (p.Pro353Thr) | Autosomal recessive congenital ichthyosis 2 [RCV001289941] | pathogenic | 17 | 8079410 | 8079410 | Human | 1 | name |
| 41407461 | CV983420 | single nucleotide variant | NM_001139.3(ALOX12B):c.1025T>C (p.Leu342Pro) | Autosomal recessive congenital ichthyosis 2 [RCV001289917] | pathogenic | 17 | 8079442 | 8079442 | Human | 1 | name |
| 401909347 | CV2804001 | deletion | NM_001139.3(ALOX12B):c.212_213del (p.Lys71fs) | ALOX12B-related disorder [RCV003397856] | likely pathogenic | 17 | 8086155 | 8086156 | Human | | name , trait , alternate_id |
| 14696395 | CV622251 | duplication | NM_001139.3(ALOX12B):c.286_287dup (p.Tyr97fs) | Autosomal recessive congenital ichthyosis 2 [RCV000782411] | pathogenic | 17 | 8086080 | 8086081 | Human | 1 | name |
| 14696268 | CV622265 | deletion | NM_001139.3(ALOX12B):c.149_353del (p.Val50fs) | Autosomal recessive congenital ichthyosis 2 [RCV000782409] | pathogenic | 17 | 8081187 | 8087294 | Human | 1 | name |
| 41407296 | CV983445 | deletion | NM_001139.3(ALOX12B):c.195_220del (p.Ile66fs) | Autosomal recessive congenital ichthyosis 2 [RCV001289529] | pathogenic | 17 | 8086148 | 8086173 | Human | 1 | name |
| 41407519 | CV983446 | microsatellite | NM_001139.3(ALOX12B):c.208_211dup (p.Lys71fs) | Autosomal recessive congenital ichthyosis 2 [RCV001289967] | pathogenic | 17 | 8086156 | 8086157 | Human | | name |
| 41407499 | CV983448 | microsatellite | NM_001139.3(ALOX12B):c.130_131del (p.Asp44fs) | Autosomal recessive congenital ichthyosis 2 [RCV001289951] | pathogenic | 17 | 8087312 | 8087313 | Human | | name |
| 150416371 | CV1198991 | microsatellite | NM_001139.3(ALOX12B):c.403GAG[1] (p.Glu136del) | Autosomal recessive congenital ichthyosis 2 [RCV004558630]|not provided [RCV001575817] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 17 | 8081132 | 8081134 | Human | | name |
| 597645303 | CV3712446 | duplication | NM_001139.3(ALOX12B):c.660_666dup (p.Val223fs) | Autosomal recessive congenital ichthyosis 2 [RCV005026156] | likely pathogenic | 17 | 8080322 | 8080323 | Human | 1 | name |
| 14396525 | CV612324 | microsatellite | NM_001139.3(ALOX12B):c.628TTC[1] (p.Phe211del) | Autosomal recessive congenital ichthyosis 2 [RCV000761505] | uncertain significance | 17 | 8080675 | 8080677 | Human | | name |
| 41407535 | CV983422 | duplication | NM_001139.3(ALOX12B):c.938_941dup (p.Ala316fs) | Autosomal recessive congenital ichthyosis 2 [RCV001289981] | pathogenic | 17 | 8079525 | 8079526 | Human | 1 | name |
| 41407522 | CV983430 | microsatellite | NM_001139.3(ALOX12B):c.786CTT[1] (p.Phe264del) | Autosomal recessive congenital ichthyosis 2 [RCV001289969] | pathogenic | 17 | 8079905 | 8079907 | Human | | name |
| 41407533 | CV983431 | deletion | NM_001139.3(ALOX12B):c.771_772del (p.His257fs) | Autosomal recessive congenital ichthyosis 2 [RCV001289979] | pathogenic | 17 | 8079924 | 8079925 | Human | 1 | name |
| 41407530 | CV983435 | deletion | NM_001139.3(ALOX12B):c.632_633del (p.Phe211fs) | Autosomal recessive congenital ichthyosis 2 [RCV001289976] | pathogenic | 17 | 8080675 | 8080676 | Human | 1 | name |
| 41407291 | CV983437 | duplication | NM_001139.3(ALOX12B):c.467_470dup (p.His158fs) | Autosomal recessive congenital ichthyosis 2 [RCV001289524] | pathogenic | 17 | 8080940 | 8080941 | Human | 1 | name |
| 41407527 | CV983438 | deletion | NM_001139.3(ALOX12B):c.416_417del (p.Ala139fs) | Autosomal recessive congenital ichthyosis 2 [RCV001289974]|Lamellar ichthyosis [RCV002265978] | pathogenic|likely pathogenic | 17 | 8081123 | 8081124 | Human | 2 | name |
| 150465566 | CV1218042 | microsatellite | NM_001139.3(ALOX12B):c.147+46_147+47insTGTGTGTC | not provided [RCV001614168] | benign | 17 | 8087249 | 8087250 | Human | | name |
| 41407280 | CV983406 | microsatellite | NM_001139.3(ALOX12B):c.1333CTC[1] (p.Leu446del) | Autosomal recessive congenital ichthyosis 2 [RCV001289510] | pathogenic | 17 | 8076681 | 8076683 | Human | | name |
| 41407520 | CV983427 | indel | NM_001139.3(ALOX12B):c.845delinsAA (p.Arg282fs) | Autosomal recessive congenital ichthyosis 2 [RCV001289968] | pathogenic | 17 | 8079851 | 8079851 | Human | | name |
| 151727939 | CV1517452 | deletion | NM_001139.3(ALOX12B):c.1625_1626del (p.Lys542fs) | Autosomal recessive congenital ichthyosis 2 [RCV002052067]|not provided [RCV005095533] | pathogenic | 17 | 8075623 | 8075624 | Human | 1 | name |
| 597839248 | CV3758356 | deletion | NM_001139.3(ALOX12B):c.1924_1925del (p.Arg642fs) | not provided [RCV005086191] | pathogenic | 17 | 8073149 | 8073150 | Human | | name |
| 41407278 | CV983370 | microsatellite | NM_001139.3(ALOX12B):c.2021_2022dup (p.Asp675fs) | Autosomal recessive congenital ichthyosis 2 [RCV001289508] | pathogenic | 17 | 8072854 | 8072855 | Human | | name |
| 41407470 | CV983387 | deletion | NM_001139.3(ALOX12B):c.1669_1681del (p.Arg558fs) | Autosomal recessive congenital ichthyosis 2 [RCV001289924] | pathogenic | 17 | 8073731 | 8073743 | Human | 1 | name |
| 41407303 | CV983433 | deletion | NM_001139.3(ALOX12B):c.734_745del (p.Gly245_Ser248del) | Autosomal recessive congenital ichthyosis 2 [RCV001289536] | pathogenic | 17 | 8080244 | 8080255 | Human | 1 | name |
| 41407285 | CV983367 | duplication | NM_001139.3(ALOX12B):c.2005_2037dup (p.Leu669_Arg679dup) | Autosomal recessive congenital ichthyosis 2 [RCV001289517] | pathogenic | 17 | 8072839 | 8072840 | Human | 1 | name |
| 156229071 | CV2085128 | duplication | NM_001139.3(ALOX12B):c.1984_1986dup (p.Ile662_Glu663insIle) | not provided [RCV002876166] | uncertain significance | 17 | 8072890 | 8072891 | Human | | name |
| 151759069 | CV1355102 | deletion | NM_001139.3(ALOX12B):c.1785_1790del (p.Phe595_Ala597delinsLeu) | not provided [RCV001948927] | pathogenic|uncertain significance | 17 | 8073284 | 8073289 | Human | | name |
