Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr)	SNV Germline	Chr19:15549170	Pathogenic	Autosomal recessive congenital ichthyosis 5 Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA114616	rs_118203935	9 SubmittersRCV000000957 RCV000412942 RCV001582456
NM_173483.4(CYP4F22):c.728G>A (p.Arg243His)	SNV Germline	Chr19:15540506	Pathogenic	Autosomal recessive congenital ichthyosis 5 Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA114618	rs_118203937	4 SubmittersRCV000000959 RCV001731266
NM_001099287.2(NIPAL4):c.247C>T (p.Arg83Ter)	SNV Germline	Chr5:157463303	Pathogenic	Autosomal recessive congenital ichthyosis 6 Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA251936	rs_199422216	6 SubmittersRCV000001799 RCV000436418 RCV004579514
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)	SNV Germline	Chr5:157468728	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 6 Condition: not provided Autosomal recessive congenital ichthyosis Lamellar ichthyosis Ichthyosis and erythrokeratoderma	Criteria Provided Multiple Submitters No Conflicts	CA251939	rs_199422217	25 SubmittersRCV000001801 RCV000254897 RCV001729333 RCV001844003 RCV006249351
NM_173076.3(ABCA12):c.4541G>A (p.Arg1514His)	SNV Germline	Chr2:214982225	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 4A ABCA12-related disorder Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA252477	rs_28940270	3 SubmittersRCV000002991 RCV003407261 RCV004782003
NM_173076.3(ABCA12):c.6610C>T (p.Arg2204Ter)	SNV Germline	Chr2:214953891	Pathogenic	Autosomal recessive congenital ichthyosis 4B Condition: not provided Autosomal recessive congenital ichthyosis 4A Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA252483	rs_137853289	7 SubmittersRCV000002996 RCV000413290 RCV001352680 RCV003317028
NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg)	SNV Germline	Chr9:128352659	Pathogenic/Likely pathogenic	Ichthyosis prematurity syndrome Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA117716	rs_137853134	7 SubmittersRCV000006102 RCV002512818 RCV003398450
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys)	SNV Germline	Chr14:24261779	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 1 Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA256461	rs_121918716	8 SubmittersRCV000013301 RCV000807794 RCV001778651
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)	SNV Germline	Chr14:24259720	Pathogenic	Autosomal recessive congenital ichthyosis 1 Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA256462	rs_121918717	12 SubmittersRCV000013303 RCV000520296 RCV002281702
NM_000359.3(TGM1):c.425G>A (p.Arg142His)	SNV Germline	Chr14:24261778	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 1 Condition: not provided Abnormality of the skin Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA256463	rs_121918718	8 SubmittersRCV000013304 RCV001055476 RCV001813977 RCV003398494
NM_000359.3(TGM1):c.1135G>C (p.Val379Leu)	SNV Germline	Chr14:24259099	Pathogenic	Autosomal recessive congenital ichthyosis 1 Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA256464	rs_121918720	9 SubmittersRCV000013307 RCV000413167 RCV003317033
NM_000359.3(TGM1):c.1147G>A (p.Val383Met)	SNV Germline	Chr14:24259087	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 1 Condition: not provided Lamellar ichthyosis Abnormality of the skin TGM1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256466	rs_121918722	9 SubmittersRCV000013310 RCV001379756 RCV001582478 RCV001813978 RCV003894800
NM_000359.3(TGM1):c.1166G>A (p.Arg389His)	SNV Germline	Chr14:24258667	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 1 Condition: not provided Abnormality of the skin Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA256467	rs_121918723	9 SubmittersRCV000013311 RCV000523198 RCV001813979 RCV004586000
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly)	SNV Germline	Chr14:24256011	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 1 Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA256468	rs_121918724	7 SubmittersRCV000013313 RCV001857339 RCV003226158
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg)	SNV Germline	Chr14:24259984	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 1 Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA256469	rs_121918725	11 SubmittersRCV000013315 RCV000439800 RCV004689415
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp)	SNV Germline	Chr14:24259769	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 1 Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA256476	rs_121918731	8 SubmittersRCV000013322 RCV000795243 RCV002281703
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)	SNV Germline	Chr14:24260555	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 1 Condition: not provided Congenital ichthyosiform erythroderma Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA256477	rs_121918732	10 SubmittersRCV000013323 RCV001219929 RCV001526608 RCV003230360
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys)	SNV Germline	Chr14:24259745	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 1 Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA261151	rs_397514525	9 SubmittersRCV000032727 RCV001852657 RCV003317052
NM_000359.3(TGM1):c.944G>A (p.Arg315His)	SNV Germline	Chr14:24259744	Pathogenic	Autosomal recessive congenital ichthyosis 1 Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA261152	rs_143473912	11 SubmittersRCV000032728 RCV000518957 RCV004700296
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	9 SubmittersRCV000032743 RCV000414417 RCV000626762 RCV002509181
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 SubmittersRCV000032744 RCV000413764 RCV000414880 RCV002222361
NM_000359.3(TGM1):c.1621A>C (p.Thr541Pro)	SNV Germline	Chr14:24255388	Pathogenic	Lamellar ichthyosis	No Assertion Criteria Provided	CA151351	rs_587779765	1 SubmittersRCV000114933
NM_005094.4(SLC27A4):c.1504C>T (p.Arg502Ter)	SNV Germline	Chr9:128355439	Pathogenic/Likely pathogenic	Condition: not provided Lamellar ichthyosis Ichthyosis prematurity syndrome	Criteria Provided Multiple Submitters No Conflicts	CA235561	rs_587776384	4 SubmittersRCV000162300 RCV002265622 RCV005042282
NM_021628.3(ALOXE3):c.418C>T (p.Arg140Ter)	SNV Germline	Chr17:8115623	Pathogenic	Autosomal recessive congenital ichthyosis 3 Ichthyosis Lamellar ichthyosis	Criteria Provided Single Submitter	CA210111	rs_370031870	3 SubmittersRCV000201260 RCV000755138 RCV002469062
NM_173076.3(ABCA12):c.1300C>T (p.Arg434Ter)	SNV Germline	Chr2:215019784	Pathogenic	Condition: not provided Lamellar ichthyosis Autosomal recessive congenital ichthyosis 4B Autosomal recessive congenital ichthyosis 4A	Criteria Provided Multiple Submitters No Conflicts	CA10588335	rs_757520757	4 SubmittersRCV000255533 RCV004800366 RCV004796133
NM_173076.3(ABCA12):c.179G>C (p.Arg60Pro)	SNV Germline	Chr2:215064204	Pathogenic/Likely pathogenic	Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA10588337	rs_762065937	3 SubmittersRCV000256128 RCV005895421
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 SubmittersRCV000255637 RCV001289939 RCV003155138
NM_000359.3(TGM1):c.877-2A>G	SNV Germline	Chr14:24259813	Pathogenic	Condition: not provided Autosomal recessive congenital ichthyosis 1 Autosomal recessive congenital ichthyosis TGM1-related disorder Lamellar ichthyosis Cholangiocarcinoma Lung cancer Familial cancer of breast Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA7131245	rs_142634031	22 SubmittersRCV000290112 RCV000762929 RCV001729500 RCV003930035 RCV004767207 RCV005895473 RCV005895474 RCV005895471 RCV005895472
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter)	SNV Germline	Chr14:24261824	Pathogenic	Condition: not provided Autosomal recessive congenital ichthyosis 1 Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA10603308	rs_886041250	9 SubmittersRCV000381439 RCV000670709 RCV002222463
NM_000359.3(TGM1):c.377G>A (p.Arg126His)	SNV Germline	Chr14:24261826	Pathogenic	Condition: not provided Autosomal recessive congenital ichthyosis 1 Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA501082	rs_200491579	7 SubmittersRCV000329115 RCV000673549 RCV003226271
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu)	SNV Germline	Chr17:8103390	Pathogenic	Autosomal recessive congenital ichthyosis 3 Condition: not provided Autosomal recessive congenital ichthyosis Lamellar ichthyosis ALOXE3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA8367920	rs_147149459	18 SubmittersRCV000032747 RCV000295913 RCV000615069 RCV001844106 RCV003920029
NM_000359.3(TGM1):c.791G>A (p.Arg264Gln)	SNV Germline	Chr14:24260025	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 1 Condition: not provided Lamellar ichthyosis Treacher Collins syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA7131282	rs_781006633	5 SubmittersRCV000320209 RCV001046072 RCV003323509 RCV005863096
NM_001099287.2(NIPAL4):c.502G>A (p.Gly168Arg)	SNV Germline	Chr5:157471733	Pathogenic	Condition: not provided Lamellar ichthyosis Autosomal recessive congenital ichthyosis 6 Autosomal recessive congenital ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA3534666	rs_370356566	4 SubmittersRCV000414650 RCV001797712 RCV000791228 RCV001729571
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly)	SNV Germline	Chr14:24259769	Pathogenic	Condition: not provided Lamellar ichthyosis Autosomal recessive congenital ichthyosis 1	Criteria Provided Multiple Submitters No Conflicts	CA7131235	rs_121918731	12 SubmittersRCV000413014 RCV000599792 RCV000762928
NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro)	SNV Germline	Chr6:36291532	Pathogenic/Likely pathogenic	Congenital ichthyosiform erythroderma Autosomal recessive congenital ichthyosis 10 Lamellar ichthyosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3777677	rs_781053760	6 SubmittersRCV000845143 RCV000504558 RCV004689731 RCV003324746
NM_173483.4(CYP4F22):c.1084C>T (p.Arg362Ter)	SNV Germline	Chr19:15544227	Pathogenic	Condition: not provided Autosomal recessive congenital ichthyosis 5 Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA9269833	rs_745368359	3 SubmittersRCV000426277 RCV000678436 RCV006452634
NM_173076.3(ABCA12):c.7444C>T (p.Arg2482Ter)	SNV Germline	Chr2:214937608	Pathogenic	Condition: not provided Autosomal recessive congenital ichthyosis 4B Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA2090634	rs_199503269	5 SubmittersRCV000480311 RCV000677681 RCV002231097
NM_000359.3(TGM1):c.788G>A (p.Trp263Ter)	SNV Germline	Chr14:24260028	Pathogenic	Condition: not provided Autosomal recessive congenital ichthyosis 1 Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA7131283	rs_367699137	9 SubmittersRCV000483411 RCV000669357 RCV003230514
NM_148897.3(SDR9C7):c.599T>C (p.Ile200Thr)	SNV Germline	Chr12:56929515	Conflicting classifications of pathogenicity	Ichthyosis, congenital, autosomal recessive 13 Condition: not provided SDR9C7-related disorder Lamellar ichthyosis	Criteria Provided Conflicting Classifications	CA6638108	rs_770729222	7 SubmittersRCV000495845 RCV001805113 RCV003419837 RCV004782408
NM_001374623.1(PNPLA1):c.646T>C (p.Cys216Arg)	SNV Germline	Chr6:36294331	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive congenital ichthyosis 10 Congenital ichthyosiform erythroderma Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA363813785	rs_1554138062	4 SubmittersRCV000521104 RCV000782288 RCV000845147 RCV004782423
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp)	SNV Germline	Chr14:24259721	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive congenital ichthyosis 1 Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA7131226	rs_771820315	7 SubmittersRCV000521059 RCV000671220 RCV002271520
NM_000359.3(TGM1):c.232C>T (p.Arg78Ter)	SNV Germline	Chr14:24262121	Pathogenic	Condition: not provided Autosomal recessive congenital ichthyosis 1 Lamellar ichthyosis TGM1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7131506	rs_760429286	9 SubmittersRCV000519659 RCV000665611 RCV001192957 RCV003900087
NM_021628.3(ALOXE3):c.1630C>T (p.Gln544Ter)	SNV Germline	Chr17:8108522	Pathogenic	Condition: not provided Lamellar ichthyosis Congenital nonbullous ichthyosiform erythroderma	Criteria Provided Multiple Submitters No Conflicts	CA8368014	rs_781631629	4 SubmittersRCV000521467 RCV001291298 RCV001849396
NM_000359.3(TGM1):c.1074C>G (p.Ser358Arg)	SNV Germline	Chr14:24259160	Pathogenic	Autosomal recessive congenital ichthyosis 1 Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA7131199	rs_779287673	6 SubmittersRCV000669383 RCV001070662 RCV004800524
NM_000359.3(TGM1):c.431G>A (p.Gly144Glu)	SNV Germline	Chr14:24261772	Likely pathogenic	Autosomal recessive congenital ichthyosis 1 Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA389277846	rs_1465243895	3 SubmittersRCV000671020 RCV004702296
NM_000359.3(TGM1):c.1042C>T (p.Arg348Ter)	SNV Germline	Chr14:24259192	Pathogenic	Autosomal recessive congenital ichthyosis 1 Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA389265004	rs_1296165092	7 SubmittersRCV000672174 RCV001592854 RCV003387906
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu)	SNV Germline	Chr19:15525513	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 5 CYP4F22-related disorder Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA9269479	rs_118091316	9 SubmittersRCV000678420 RCV004758722 RCV001731881 RCV004689851
NM_173483.4(CYP4F22):c.242G>A (p.Gly81Asp)	SNV Germline	Chr19:15529728	Pathogenic	Autosomal recessive congenital ichthyosis 5 Lamellar ichthyosis	Criteria Provided Single Submitter	CA305819020	rs_369811073	2 SubmittersRCV000678397 RCV005240452
NM_173483.4(CYP4F22):c.727C>T (p.Arg243Cys)	SNV Germline	Chr19:15540505	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 5 Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA9269686	rs_768098854	4 SubmittersRCV000678426 RCV001552346 RCV003155281
NM_173483.4(CYP4F22):c.844C>T (p.Arg282Trp)	SNV Germline	Chr19:15540622	Pathogenic	Autosomal recessive congenital ichthyosis 5 Lamellar ichthyosis	Criteria Provided Single Submitter	CA9269712	rs_767352854	2 SubmittersRCV000678430 RCV005240453
NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln)	SNV Germline	Chr19:15544228	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 5 Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA9269834	rs_769229606	3 SubmittersRCV000678433 RCV003117484
NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp)	SNV Germline	Chr19:15544257	Likely pathogenic	Autosomal recessive congenital ichthyosis 5 Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA305829729	rs_201129618	3 SubmittersRCV000678424 RCV006459804
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 SubmittersRCV002535648 RCV003226390
NM_173076.3(ABCA12):c.7277G>A (p.Arg2426Gln)	SNV Germline	Chr2:214945067	Likely pathogenic	Autosomal recessive congenital ichthyosis 4B Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA2090692	rs_761068277	3 SubmittersRCV000782386 RCV003718291 RCV005240565
NM_148897.3(SDR9C7):c.355G>A (p.Glu119Lys)	SNV Germline	Chr12:56930431	Pathogenic/Likely pathogenic	Congenital ichthyosis of skin Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA385385524	rs_538068583	2 SubmittersRCV000782400 RCV005240566
NM_148897.3(SDR9C7):c.112G>A (p.Gly38Arg)	SNV Germline	Chr12:56934150	Conflicting classifications of pathogenicity	Congenital ichthyosis of skin Ichthyosis, congenital, autosomal recessive 13 Lamellar ichthyosis Intellectual disability, autosomal recessive 53	Criteria Provided Conflicting Classifications	CA6638263	rs_764593071	6 SubmittersRCV000782399 RCV003338790 RCV004586924 RCV005861173
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys)	SNV Germline	Chr14:24258647	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 1 Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA7131152	rs_543521135	8 SubmittersRCV000782372 RCV001576631 RCV004576967
NM_000359.3(TGM1):c.400T>C (p.Tyr134His)	SNV Germline	Chr14:24261803	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 1 Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA389278223	rs_1230140208	4 SubmittersRCV000782403 RCV005407956
NM_021628.3(ALOXE3):c.2065C>T (p.Arg689Trp)	SNV Germline	Chr17:8096698	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 2 Lamellar ichthyosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397965087	rs_1311967606	3 SubmittersRCV000782398 RCV003117573 RCV006464226
NM_021628.3(ALOXE3):c.1208A>G (p.His403Arg)	SNV Germline	Chr17:8110189	Likely pathogenic	Autosomal recessive congenital ichthyosis 2 Autosomal recessive congenital ichthyosis 3 Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA397973526	rs_1296095311	3 SubmittersRCV000782397 RCV001289504 RCV004768646
NM_001374623.1(PNPLA1):c.205+5G>A	SNV Germline	Chr6:36270669	Conflicting classifications of pathogenicity	Autosomal recessive congenital ichthyosis 10 Lamellar ichthyosis	Criteria Provided Conflicting Classifications	CA913189742	rs_1561853887	2 SubmittersRCV000782385 RCV003987705
NM_001099287.2(NIPAL4):c.703G>A (p.Gly235Arg)	SNV Germline	Chr5:157472448	Pathogenic	Autosomal recessive congenital ichthyosis 6 Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA3534718	rs_375688767	4 SubmittersRCV000791234 RCV001560911 RCV003155312
NM_001099287.2(NIPAL4):c.277+5G>A	SNV Germline	Chr5:157463338	Conflicting classifications of pathogenicity	Autosomal recessive congenital ichthyosis 6 Lamellar ichthyosis Condition: not provided Cervical cancer	Criteria Provided Conflicting Classifications	CA3534570	rs_376074083	5 SubmittersRCV000791221 RCV003387930 RCV005056554 RCV005901944
NM_001374623.1(PNPLA1):c.157T>C (p.Ser53Pro)	SNV Germline	Chr6:36270616	Pathogenic	Congenital ichthyosiform erythroderma Lamellar ichthyosis	Criteria Provided Single Submitter	CA363805419	rs_1582046125	2 SubmittersRCV000845153 RCV006459975
NM_001374623.1(PNPLA1):c.464C>T (p.Pro155Leu)	SNV Germline	Chr6:36293086	Likely pathogenic	Congenital ichthyosiform erythroderma Lamellar ichthyosis Autosomal recessive congenital ichthyosis 10	Criteria Provided Multiple Submitters No Conflicts	CA3777716	rs_766188849	3 SubmittersRCV000845140 RCV005432462 RCV004720283
NM_001374623.1(PNPLA1):c.514G>A (p.Asp172Asn)	SNV Germline	Chr6:36294199	Pathogenic	Congenital ichthyosiform erythroderma Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA3777758	rs_373148099	4 SubmittersRCV000845144 RCV001093081 RCV005432463
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly)	SNV Germline	Chr12:56930235	Conflicting classifications of pathogenicity	Ichthyosis, congenital, autosomal recessive 13 Condition: not provided Lamellar ichthyosis Ichthyosis and erythrokeratoderma	Criteria Provided Conflicting Classifications	CA6638140	rs_138435128	9 SubmittersRCV000995866 RCV001092490 RCV003226414 RCV005862519
NM_152792.4(ASPRV1):c.343A>G (p.Lys115Glu)	SNV Germline	Chr2:69961094	Pathogenic	Autosomal dominant lamellar ichthyosis	No Assertion Criteria Provided	CA347153288	rs_1678079858	1 SubmittersRCV001254868
NM_152792.4(ASPRV1):c.688C>A (p.Pro230Thr)	SNV Germline	Chr2:69960749	Pathogenic	Autosomal dominant lamellar ichthyosis	No Assertion Criteria Provided	CA347150590	rs_756352033	1 SubmittersRCV001254869
NM_152792.4(ASPRV1):c.680G>C (p.Arg227Pro)	SNV Germline	Chr2:69960757	Pathogenic	Autosomal dominant lamellar ichthyosis	No Assertion Criteria Provided	CA347150603	rs_373824162	1 SubmittersRCV001254870
NM_021628.3(ALOXE3):c.680+1G>A	SNV Germline	Chr17:8114483	Pathogenic	Autosomal recessive congenital ichthyosis 3 Lamellar ichthyosis Trichohepatoenteric syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA8368339	rs_764781178	4 SubmittersRCV001262620 RCV002282503 RCV005861223
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 SubmittersRCV001289957 RCV001773594 RCV005236767
NM_001139.3(ALOX12B):c.1463G>A (p.Arg488His)	SNV Germline	Chr17:8076244	Pathogenic	Autosomal recessive congenital ichthyosis 2 Lamellar ichthyosis ALOX12B-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8367295	rs_763468558	5 SubmittersRCV001289523 RCV002222692 RCV003405498 RCV006270486
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 SubmittersRCV001289944 RCV003492244
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 SubmittersRCV001289949 RCV004699274 RCV004797925
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 SubmittersRCV001289514 RCV002509651 RCV003238858
NM_001139.3(ALOX12B):c.1496G>A (p.Arg499His)	SNV Germline	Chr17:8076211	Conflicting classifications of pathogenicity	Autosomal recessive congenital ichthyosis 2 Condition: not provided Lamellar ichthyosis	Criteria Provided Conflicting Classifications	CA8367290	rs_768784091	4 SubmittersRCV001330370 RCV001871811 RCV005432674
NM_000359.3(TGM1):c.1438A>T (p.Ile480Phe)	SNV Germline	Chr14:24256042	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive congenital ichthyosis 1 Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA7131083	rs_377119683	3 SubmittersRCV001379755 RCV004570936 RCV006457073
NM_173076.3(ABCA12):c.1210C>T (p.Arg404Ter)	SNV Germline	Chr2:215025750	Pathogenic	Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA350449124	rs_1458824013	3 SubmittersRCV001902814 RCV002266049
NM_173076.3(ABCA12):c.2956C>T (p.Arg986Trp)	SNV Germline	Chr2:215000928	Pathogenic/Likely pathogenic	Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA2091832	rs_375702318	2 SubmittersRCV001946750 RCV004801109
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 SubmittersRCV001886306 RCV002282629 RCV005016729
NM_173076.3(ABCA12):c.4540C>T (p.Arg1514Cys)	SNV Germline	Chr2:214982226	Pathogenic	Autosomal recessive congenital ichthyosis 4A Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA350461712	rs_1266760446	3 SubmittersRCV002052258 RCV003773526 RCV004801139
NM_001374623.1(PNPLA1):c.100G>C (p.Ala34Pro)	SNV Germline	Chr6:36270559	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 10 Lamellar ichthyosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA363805265	rs_1182312612	3 SubmittersRCV002254388 RCV005930089 RCV006470310
NM_005094.4(SLC27A4):c.-6-2A>G	SNV Germline	Chr9:128343125	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter	CA375027128	rs_2131249868	1 SubmittersRCV002266409
NM_000359.3(TGM1):c.814T>C (p.Ser272Pro)	SNV Germline	Chr14:24260002	Likely pathogenic	Autosomal recessive congenital ichthyosis 1 Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA7131276	rs_764040146	2 SubmittersRCV002272734 RCV003324012
NM_001099287.2(NIPAL4):c.4G>T (p.Glu2Ter)	SNV Germline	Chr5:157460324	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter	CA361979289	rs_1258173126	1 SubmittersRCV002302480
NM_000359.3(TGM1):c.1491+1G>T	SNV Germline	Chr14:24255988	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter	CA389255522	rs_2502496203	1 SubmittersRCV002308533
NM_001099287.2(NIPAL4):c.587-2A>G	SNV Germline	Chr5:157472330	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter	CA361973023	rs_2532907239	1 SubmittersRCV002470008
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_005094.4(SLC27A4):c.1463-2A>C	SNV Germline	Chr9:128355396	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter	CA375036417	rs_1832802732	1 SubmittersRCV002510421
NM_001378789.1(CERS3):c.686G>A (p.Arg229His)	SNV Germline	Chr15:100472976	Pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter	CA7758971	rs_752230253	1 SubmittersRCV003123559
NM_001374623.1(PNPLA1):c.736C>T (p.Arg246Ter)	SNV Germline	Chr6:36295385	Likely pathogenic	Lamellar ichthyosis Autosomal recessive congenital ichthyosis 10	Criteria Provided Single Submitter	CA3777835	rs_777268917	2 SubmittersRCV003155798 RCV003327596
NM_021628.3(ALOXE3):c.1563-2A>G	SNV Germline	Chr17:8108591	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter	CA8368032	rs_141115577	1 SubmittersRCV003226839
NM_173076.3(ABCA12):c.3470C>T (p.Ser1157Leu)	SNV Germline	Chr2:214990856	Pathogenic/Likely pathogenic	Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA2091728	rs_780940154	2 SubmittersRCV003554990 RCV005240822
NM_005094.4(SLC27A4):c.1628-1G>A	SNV Germline	Chr9:128355649	Likely pathogenic	Condition: not provided Ichthyosis prematurity syndrome Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA375037018	rs_1454874748	3 SubmittersRCV003563480 RCV003985904 RCV005407195
NM_173076.3(ABCA12):c.196G>A (p.Gly66Arg)	SNV Germline	Chr2:215064187	Likely pathogenic	Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA500009	rs_201526979	2 SubmittersRCV003697278 RCV006455722
NM_001374623.1(PNPLA1):c.158C>T (p.Ser53Leu)	SNV Germline	Chr6:36270617	Likely pathogenic	Lamellar ichthyosis Autosomal recessive congenital ichthyosis 10	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004690855 RCV005038776
NM_148897.3(SDR9C7):c.826C>T (p.Arg276Cys)	SNV Germline	Chr12:56923949	Pathogenic/Likely pathogenic	Lamellar ichthyosis Ichthyosis and erythrokeratoderma	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004690987 RCV005860422
NM_001139.3(ALOX12B):c.352+2T>G	SNV Germline	Chr17:8086014	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter			1 SubmittersRCV004766649
NM_173076.3(ABCA12):c.3548A>G (p.Tyr1183Cys)	SNV Germline	Chr2:214990778	Pathogenic/Likely pathogenic	Lamellar ichthyosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV004766930 RCV005059921
NM_001139.3(ALOX12B):c.324C>G (p.Tyr108Ter)	SNV Germline	Chr17:8086044	Pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter			1 SubmittersRCV004783369
NM_001374623.1(PNPLA1):c.301A>G (p.Arg101Gly)	SNV Germline	Chr6:36291415	Pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter			1 SubmittersRCV004783374
NM_001378789.1(CERS3):c.685C>T (p.Arg229Cys)	SNV Germline	Chr15:100472977	Pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter			1 SubmittersRCV004799889
NM_173483.4(CYP4F22):c.1189C>T (p.Arg397Cys)	SNV Germline	Chr19:15548160	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter			1 SubmittersRCV004799890
NM_021628.3(ALOXE3):c.1981G>T (p.Glu661Ter)	SNV Germline	Chr17:8096782	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter			1 SubmittersRCV004800934
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.1654G>T (p.Gly552Cys)	SNV Germline	Chr17:8075595	Pathogenic/Likely pathogenic	Lamellar ichthyosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005408446 RCV005422620
NM_000359.3(TGM1):c.1070G>A (p.Gly357Asp)	SNV Germline	Chr14:24259164	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter			1 SubmittersRCV006249067
NM_173076.3(ABCA12):c.1657+1G>A	SNV Germline	Chr2:215019335	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter			1 SubmittersRCV006266238
NM_001139.3(ALOX12B):c.1248C>A (p.Asn416Lys)	SNV Germline	Chr17:8077017	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter			1 SubmittersRCV006266465
NM_173483.4(CYP4F22):c.982G>A (p.Glu328Lys)	SNV Germline	Chr19:15544013	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter			1 SubmittersRCV006453118

NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr)

SNV
Germline

Chr19:15549170

Pathogenic

Autosomal recessive congenital ichthyosis 5
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA114616

rs_118203935

9 SubmittersRCV000000957 RCV000412942 RCV001582456

NM_173483.4(CYP4F22):c.728G>A (p.Arg243His)

SNV
Germline

Chr19:15540506

Pathogenic

Autosomal recessive congenital ichthyosis 5
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA114618

rs_118203937

4 SubmittersRCV000000959 RCV001731266

NM_001099287.2(NIPAL4):c.247C>T (p.Arg83Ter)

SNV
Germline

Chr5:157463303

Pathogenic

Autosomal recessive congenital ichthyosis 6
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA251936

rs_199422216

6 SubmittersRCV000001799 RCV000436418 RCV004579514

NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)

SNV
Germline

Chr5:157468728

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 6
Condition: not provided
Autosomal recessive congenital ichthyosis
Lamellar ichthyosis
Ichthyosis and erythrokeratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA251939

rs_199422217

25 SubmittersRCV000001801 RCV000254897 RCV001729333 RCV001844003 RCV006249351

NM_173076.3(ABCA12):c.4541G>A (p.Arg1514His)

SNV
Germline

Chr2:214982225

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 4A
ABCA12-related disorder
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA252477

rs_28940270

3 SubmittersRCV000002991 RCV003407261 RCV004782003

NM_173076.3(ABCA12):c.6610C>T (p.Arg2204Ter)

SNV
Germline

Chr2:214953891

Pathogenic

Autosomal recessive congenital ichthyosis 4B
Condition: not provided
Autosomal recessive congenital ichthyosis 4A
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA252483

rs_137853289

7 SubmittersRCV000002996 RCV000413290 RCV001352680 RCV003317028

NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg)

SNV
Germline

Chr9:128352659

Pathogenic/Likely pathogenic

Ichthyosis prematurity syndrome
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA117716

rs_137853134

7 SubmittersRCV000006102 RCV002512818 RCV003398450

NM_000359.3(TGM1):c.424C>T (p.Arg142Cys)

SNV
Germline

Chr14:24261779

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA256461

rs_121918716

8 SubmittersRCV000013301 RCV000807794 RCV001778651

NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)

SNV
Germline

Chr14:24259720

Pathogenic

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA256462

rs_121918717

12 SubmittersRCV000013303 RCV000520296 RCV002281702

NM_000359.3(TGM1):c.425G>A (p.Arg142His)

SNV
Germline

Chr14:24261778

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Abnormality of the skin
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA256463

rs_121918718

8 SubmittersRCV000013304 RCV001055476 RCV001813977 RCV003398494

NM_000359.3(TGM1):c.1135G>C (p.Val379Leu)

SNV
Germline

Chr14:24259099

Pathogenic

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA256464

rs_121918720

9 SubmittersRCV000013307 RCV000413167 RCV003317033

NM_000359.3(TGM1):c.1147G>A (p.Val383Met)

SNV
Germline

Chr14:24259087

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Lamellar ichthyosis
Abnormality of the skin
TGM1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256466

rs_121918722

9 SubmittersRCV000013310 RCV001379756 RCV001582478 RCV001813978 RCV003894800

NM_000359.3(TGM1):c.1166G>A (p.Arg389His)

SNV
Germline

Chr14:24258667

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Abnormality of the skin
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA256467

rs_121918723

9 SubmittersRCV000013311 RCV000523198 RCV001813979 RCV004586000

NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly)

SNV
Germline

Chr14:24256011

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA256468

rs_121918724

7 SubmittersRCV000013313 RCV001857339 RCV003226158

NM_000359.3(TGM1):c.832G>A (p.Gly278Arg)

SNV
Germline

Chr14:24259984

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA256469

rs_121918725

11 SubmittersRCV000013315 RCV000439800 RCV004689415

NM_000359.3(TGM1):c.919C>T (p.Arg307Trp)

SNV
Germline

Chr14:24259769

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA256476

rs_121918731

8 SubmittersRCV000013322 RCV000795243 RCV002281703

NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)

SNV
Germline

Chr14:24260555

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Congenital ichthyosiform erythroderma
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA256477

rs_121918732

10 SubmittersRCV000013323 RCV001219929 RCV001526608 RCV003230360

NM_000359.3(TGM1):c.943C>T (p.Arg315Cys)

SNV
Germline

Chr14:24259745

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA261151

rs_397514525

9 SubmittersRCV000032727 RCV001852657 RCV003317052

NM_000359.3(TGM1):c.944G>A (p.Arg315His)

SNV
Germline

Chr14:24259744

Pathogenic

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA261152

rs_143473912

11 SubmittersRCV000032728 RCV000518957 RCV004700296

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

9 SubmittersRCV000032743 RCV000414417 RCV000626762 RCV002509181

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 SubmittersRCV000032744 RCV000413764 RCV000414880 RCV002222361

NM_000359.3(TGM1):c.1621A>C (p.Thr541Pro)

SNV
Germline

Chr14:24255388

Pathogenic

Lamellar ichthyosis

No Assertion Criteria Provided

CA151351

rs_587779765

1 SubmittersRCV000114933

NM_005094.4(SLC27A4):c.1504C>T (p.Arg502Ter)

SNV
Germline

Chr9:128355439

Pathogenic/Likely pathogenic

Condition: not provided
Lamellar ichthyosis
Ichthyosis prematurity syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA235561

rs_587776384

4 SubmittersRCV000162300 RCV002265622 RCV005042282

NM_021628.3(ALOXE3):c.418C>T (p.Arg140Ter)

SNV
Germline

Chr17:8115623

Pathogenic

Autosomal recessive congenital ichthyosis 3
Ichthyosis
Lamellar ichthyosis

Criteria Provided
Single Submitter

CA210111

rs_370031870

3 SubmittersRCV000201260 RCV000755138 RCV002469062

NM_173076.3(ABCA12):c.1300C>T (p.Arg434Ter)

SNV
Germline

Chr2:215019784

Pathogenic

Condition: not provided
Lamellar ichthyosis
Autosomal recessive congenital ichthyosis 4B
Autosomal recessive congenital ichthyosis 4A

Criteria Provided
Multiple Submitters
No Conflicts

CA10588335

rs_757520757

4 SubmittersRCV000255533 RCV004800366 RCV004796133

NM_173076.3(ABCA12):c.179G>C (p.Arg60Pro)

SNV
Germline

Chr2:215064204

Pathogenic/Likely pathogenic

Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10588337

rs_762065937

3 SubmittersRCV000256128 RCV005895421

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 SubmittersRCV000255637 RCV001289939 RCV003155138

NM_000359.3(TGM1):c.877-2A>G

SNV
Germline

Chr14:24259813

Pathogenic

Condition: not provided
Autosomal recessive congenital ichthyosis 1
Autosomal recessive congenital ichthyosis
TGM1-related disorder
Lamellar ichthyosis
Cholangiocarcinoma
Lung cancer
Familial cancer of breast
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA7131245

rs_142634031

22 SubmittersRCV000290112 RCV000762929 RCV001729500 RCV003930035 RCV004767207 RCV005895473 RCV005895474 RCV005895471 RCV005895472

NM_000359.3(TGM1):c.379C>T (p.Arg127Ter)

SNV
Germline

Chr14:24261824

Pathogenic

Condition: not provided
Autosomal recessive congenital ichthyosis 1
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10603308

rs_886041250

9 SubmittersRCV000381439 RCV000670709 RCV002222463

NM_000359.3(TGM1):c.377G>A (p.Arg126His)

SNV
Germline

Chr14:24261826

Pathogenic

Condition: not provided
Autosomal recessive congenital ichthyosis 1
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA501082

rs_200491579

7 SubmittersRCV000329115 RCV000673549 RCV003226271

NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu)

SNV
Germline

Chr17:8103390

Pathogenic

Autosomal recessive congenital ichthyosis 3
Condition: not provided
Autosomal recessive congenital ichthyosis
Lamellar ichthyosis
ALOXE3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8367920

rs_147149459

18 SubmittersRCV000032747 RCV000295913 RCV000615069 RCV001844106 RCV003920029

NM_000359.3(TGM1):c.791G>A (p.Arg264Gln)

SNV
Germline

Chr14:24260025

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Lamellar ichthyosis
Treacher Collins syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA7131282

rs_781006633

5 SubmittersRCV000320209 RCV001046072 RCV003323509 RCV005863096

NM_001099287.2(NIPAL4):c.502G>A (p.Gly168Arg)

SNV
Germline

Chr5:157471733

Pathogenic

Condition: not provided
Lamellar ichthyosis
Autosomal recessive congenital ichthyosis 6
Autosomal recessive congenital ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA3534666

rs_370356566

4 SubmittersRCV000414650 RCV001797712 RCV000791228 RCV001729571

NM_000359.3(TGM1):c.919C>G (p.Arg307Gly)

SNV
Germline

Chr14:24259769

Pathogenic

Condition: not provided
Lamellar ichthyosis
Autosomal recessive congenital ichthyosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA7131235

rs_121918731

12 SubmittersRCV000413014 RCV000599792 RCV000762928

NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro)

SNV
Germline

Chr6:36291532

Pathogenic/Likely pathogenic

Congenital ichthyosiform erythroderma
Autosomal recessive congenital ichthyosis 10
Lamellar ichthyosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3777677

rs_781053760

6 SubmittersRCV000845143 RCV000504558 RCV004689731 RCV003324746

NM_173483.4(CYP4F22):c.1084C>T (p.Arg362Ter)

SNV
Germline

Chr19:15544227

Pathogenic

Condition: not provided
Autosomal recessive congenital ichthyosis 5
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA9269833

rs_745368359

3 SubmittersRCV000426277 RCV000678436 RCV006452634

NM_173076.3(ABCA12):c.7444C>T (p.Arg2482Ter)

SNV
Germline

Chr2:214937608

Pathogenic

Condition: not provided
Autosomal recessive congenital ichthyosis 4B
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2090634

rs_199503269

5 SubmittersRCV000480311 RCV000677681 RCV002231097

NM_000359.3(TGM1):c.788G>A (p.Trp263Ter)

SNV
Germline

Chr14:24260028

Pathogenic

Condition: not provided
Autosomal recessive congenital ichthyosis 1
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7131283

rs_367699137

9 SubmittersRCV000483411 RCV000669357 RCV003230514

NM_148897.3(SDR9C7):c.599T>C (p.Ile200Thr)

SNV
Germline

Chr12:56929515

Conflicting classifications of pathogenicity

Ichthyosis, congenital, autosomal recessive 13
Condition: not provided
SDR9C7-related disorder
Lamellar ichthyosis

Criteria Provided
Conflicting Classifications

CA6638108

rs_770729222

7 SubmittersRCV000495845 RCV001805113 RCV003419837 RCV004782408

NM_001374623.1(PNPLA1):c.646T>C (p.Cys216Arg)

SNV
Germline

Chr6:36294331

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive congenital ichthyosis 10
Congenital ichthyosiform erythroderma
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA363813785

rs_1554138062

4 SubmittersRCV000521104 RCV000782288 RCV000845147 RCV004782423

NM_000359.3(TGM1):c.967C>T (p.Arg323Trp)

SNV
Germline

Chr14:24259721

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive congenital ichthyosis 1
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7131226

rs_771820315

7 SubmittersRCV000521059 RCV000671220 RCV002271520

NM_000359.3(TGM1):c.232C>T (p.Arg78Ter)

SNV
Germline

Chr14:24262121

Pathogenic

Condition: not provided
Autosomal recessive congenital ichthyosis 1
Lamellar ichthyosis
TGM1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7131506

rs_760429286

9 SubmittersRCV000519659 RCV000665611 RCV001192957 RCV003900087

NM_021628.3(ALOXE3):c.1630C>T (p.Gln544Ter)

SNV
Germline

Chr17:8108522

Pathogenic

Condition: not provided
Lamellar ichthyosis
Congenital nonbullous ichthyosiform erythroderma

Criteria Provided
Multiple Submitters
No Conflicts

CA8368014

rs_781631629

4 SubmittersRCV000521467 RCV001291298 RCV001849396

NM_000359.3(TGM1):c.1074C>G (p.Ser358Arg)

SNV
Germline

Chr14:24259160

Pathogenic

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7131199

rs_779287673

6 SubmittersRCV000669383 RCV001070662 RCV004800524

NM_000359.3(TGM1):c.431G>A (p.Gly144Glu)

SNV
Germline

Chr14:24261772

Likely pathogenic

Autosomal recessive congenital ichthyosis 1
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA389277846

rs_1465243895

3 SubmittersRCV000671020 RCV004702296

NM_000359.3(TGM1):c.1042C>T (p.Arg348Ter)

SNV
Germline

Chr14:24259192

Pathogenic

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA389265004

rs_1296165092

7 SubmittersRCV000672174 RCV001592854 RCV003387906

NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu)

SNV
Germline

Chr19:15525513

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 5
CYP4F22-related disorder
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA9269479

rs_118091316

9 SubmittersRCV000678420 RCV004758722 RCV001731881 RCV004689851

NM_173483.4(CYP4F22):c.242G>A (p.Gly81Asp)

SNV
Germline

Chr19:15529728

Pathogenic

Autosomal recessive congenital ichthyosis 5
Lamellar ichthyosis

Criteria Provided
Single Submitter

CA305819020

rs_369811073

2 SubmittersRCV000678397 RCV005240452

NM_173483.4(CYP4F22):c.727C>T (p.Arg243Cys)

SNV
Germline

Chr19:15540505

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 5
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA9269686

rs_768098854

4 SubmittersRCV000678426 RCV001552346 RCV003155281

NM_173483.4(CYP4F22):c.844C>T (p.Arg282Trp)

SNV
Germline

Chr19:15540622

Pathogenic

Autosomal recessive congenital ichthyosis 5
Lamellar ichthyosis

Criteria Provided
Single Submitter

CA9269712

rs_767352854

2 SubmittersRCV000678430 RCV005240453

NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln)

SNV
Germline

Chr19:15544228

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 5
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA9269834

rs_769229606

3 SubmittersRCV000678433 RCV003117484

NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp)

SNV
Germline

Chr19:15544257

Likely pathogenic

Autosomal recessive congenital ichthyosis 5
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA305829729

rs_201129618

3 SubmittersRCV000678424 RCV006459804

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 SubmittersRCV002535648 RCV003226390

NM_173076.3(ABCA12):c.7277G>A (p.Arg2426Gln)

SNV
Germline

Chr2:214945067

Likely pathogenic

Autosomal recessive congenital ichthyosis 4B
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2090692

rs_761068277

3 SubmittersRCV000782386 RCV003718291 RCV005240565

NM_148897.3(SDR9C7):c.355G>A (p.Glu119Lys)

SNV
Germline

Chr12:56930431

Pathogenic/Likely pathogenic

Congenital ichthyosis of skin
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385385524

rs_538068583

2 SubmittersRCV000782400 RCV005240566

NM_148897.3(SDR9C7):c.112G>A (p.Gly38Arg)

SNV
Germline

Chr12:56934150

Conflicting classifications of pathogenicity

Congenital ichthyosis of skin
Ichthyosis, congenital, autosomal recessive 13
Lamellar ichthyosis
Intellectual disability, autosomal recessive 53

Criteria Provided
Conflicting Classifications

CA6638263

rs_764593071

6 SubmittersRCV000782399 RCV003338790 RCV004586924 RCV005861173

NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys)

SNV
Germline

Chr14:24258647

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7131152

rs_543521135

8 SubmittersRCV000782372 RCV001576631 RCV004576967

NM_000359.3(TGM1):c.400T>C (p.Tyr134His)

SNV
Germline

Chr14:24261803

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 1
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA389278223

rs_1230140208

4 SubmittersRCV000782403 RCV005407956

NM_021628.3(ALOXE3):c.2065C>T (p.Arg689Trp)

SNV
Germline

Chr17:8096698

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 2
Lamellar ichthyosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397965087

rs_1311967606

3 SubmittersRCV000782398 RCV003117573 RCV006464226

NM_021628.3(ALOXE3):c.1208A>G (p.His403Arg)

SNV
Germline

Chr17:8110189

Likely pathogenic

Autosomal recessive congenital ichthyosis 2
Autosomal recessive congenital ichthyosis 3
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA397973526

rs_1296095311

3 SubmittersRCV000782397 RCV001289504 RCV004768646

NM_001374623.1(PNPLA1):c.205+5G>A

SNV
Germline

Chr6:36270669

Conflicting classifications of pathogenicity

Autosomal recessive congenital ichthyosis 10
Lamellar ichthyosis

Criteria Provided
Conflicting Classifications

CA913189742

rs_1561853887

2 SubmittersRCV000782385 RCV003987705

NM_001099287.2(NIPAL4):c.703G>A (p.Gly235Arg)

SNV
Germline

Chr5:157472448

Pathogenic

Autosomal recessive congenital ichthyosis 6
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA3534718

rs_375688767

4 SubmittersRCV000791234 RCV001560911 RCV003155312

NM_001099287.2(NIPAL4):c.277+5G>A

SNV
Germline

Chr5:157463338

Conflicting classifications of pathogenicity

Autosomal recessive congenital ichthyosis 6
Lamellar ichthyosis
Condition: not provided
Cervical cancer

Criteria Provided
Conflicting Classifications

CA3534570

rs_376074083

5 SubmittersRCV000791221 RCV003387930 RCV005056554 RCV005901944

NM_001374623.1(PNPLA1):c.157T>C (p.Ser53Pro)

SNV
Germline

Chr6:36270616

Pathogenic

Congenital ichthyosiform erythroderma
Lamellar ichthyosis

Criteria Provided
Single Submitter

CA363805419

rs_1582046125

2 SubmittersRCV000845153 RCV006459975

NM_001374623.1(PNPLA1):c.464C>T (p.Pro155Leu)

SNV
Germline

Chr6:36293086

Likely pathogenic

Congenital ichthyosiform erythroderma
Lamellar ichthyosis
Autosomal recessive congenital ichthyosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA3777716

rs_766188849

3 SubmittersRCV000845140 RCV005432462 RCV004720283

NM_001374623.1(PNPLA1):c.514G>A (p.Asp172Asn)

SNV
Germline

Chr6:36294199

Pathogenic

Congenital ichthyosiform erythroderma
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA3777758

rs_373148099

4 SubmittersRCV000845144 RCV001093081 RCV005432463

NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly)

SNV
Germline

Chr12:56930235

Conflicting classifications of pathogenicity

Ichthyosis, congenital, autosomal recessive 13
Condition: not provided
Lamellar ichthyosis
Ichthyosis and erythrokeratoderma

Criteria Provided
Conflicting Classifications

CA6638140

rs_138435128

9 SubmittersRCV000995866 RCV001092490 RCV003226414 RCV005862519

NM_152792.4(ASPRV1):c.343A>G (p.Lys115Glu)

SNV
Germline

Chr2:69961094

Pathogenic

Autosomal dominant lamellar ichthyosis

No Assertion Criteria Provided

CA347153288

rs_1678079858

1 SubmittersRCV001254868

NM_152792.4(ASPRV1):c.688C>A (p.Pro230Thr)

SNV
Germline

Chr2:69960749

Pathogenic

Autosomal dominant lamellar ichthyosis

No Assertion Criteria Provided

CA347150590

rs_756352033

1 SubmittersRCV001254869

NM_152792.4(ASPRV1):c.680G>C (p.Arg227Pro)

SNV
Germline

Chr2:69960757

Pathogenic

Autosomal dominant lamellar ichthyosis

No Assertion Criteria Provided

CA347150603

rs_373824162

1 SubmittersRCV001254870

NM_021628.3(ALOXE3):c.680+1G>A

SNV
Germline

Chr17:8114483

Pathogenic

Autosomal recessive congenital ichthyosis 3
Lamellar ichthyosis
Trichohepatoenteric syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA8368339

rs_764781178

4 SubmittersRCV001262620 RCV002282503 RCV005861223

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 SubmittersRCV001289957 RCV001773594 RCV005236767

NM_001139.3(ALOX12B):c.1463G>A (p.Arg488His)

SNV
Germline

Chr17:8076244

Pathogenic

Autosomal recessive congenital ichthyosis 2
Lamellar ichthyosis
ALOX12B-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8367295

rs_763468558

5 SubmittersRCV001289523 RCV002222692 RCV003405498 RCV006270486

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 SubmittersRCV001289944 RCV003492244

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 SubmittersRCV001289949 RCV004699274 RCV004797925

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 SubmittersRCV001289514 RCV002509651 RCV003238858

NM_001139.3(ALOX12B):c.1496G>A (p.Arg499His)

SNV
Germline

Chr17:8076211

Conflicting classifications of pathogenicity

Autosomal recessive congenital ichthyosis 2
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Conflicting Classifications

CA8367290

rs_768784091

4 SubmittersRCV001330370 RCV001871811 RCV005432674

NM_000359.3(TGM1):c.1438A>T (p.Ile480Phe)

SNV
Germline

Chr14:24256042

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive congenital ichthyosis 1
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7131083

rs_377119683

3 SubmittersRCV001379755 RCV004570936 RCV006457073

NM_173076.3(ABCA12):c.1210C>T (p.Arg404Ter)

SNV
Germline

Chr2:215025750

Pathogenic

Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA350449124

rs_1458824013

3 SubmittersRCV001902814 RCV002266049

NM_173076.3(ABCA12):c.2956C>T (p.Arg986Trp)

SNV
Germline

Chr2:215000928

Pathogenic/Likely pathogenic

Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2091832

rs_375702318

2 SubmittersRCV001946750 RCV004801109

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 SubmittersRCV001886306 RCV002282629 RCV005016729

NM_173076.3(ABCA12):c.4540C>T (p.Arg1514Cys)

SNV
Germline

Chr2:214982226

Pathogenic

Autosomal recessive congenital ichthyosis 4A
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA350461712

rs_1266760446

3 SubmittersRCV002052258 RCV003773526 RCV004801139

NM_001374623.1(PNPLA1):c.100G>C (p.Ala34Pro)

SNV
Germline

Chr6:36270559

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 10
Lamellar ichthyosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA363805265

rs_1182312612

3 SubmittersRCV002254388 RCV005930089 RCV006470310

NM_005094.4(SLC27A4):c.-6-2A>G

SNV
Germline

Chr9:128343125

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

CA375027128

rs_2131249868

1 SubmittersRCV002266409

NM_000359.3(TGM1):c.814T>C (p.Ser272Pro)

SNV
Germline

Chr14:24260002

Likely pathogenic

Autosomal recessive congenital ichthyosis 1
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7131276

rs_764040146

2 SubmittersRCV002272734 RCV003324012

NM_001099287.2(NIPAL4):c.4G>T (p.Glu2Ter)

SNV
Germline

Chr5:157460324

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

CA361979289

rs_1258173126

1 SubmittersRCV002302480

NM_000359.3(TGM1):c.1491+1G>T

SNV
Germline

Chr14:24255988

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

CA389255522

rs_2502496203

1 SubmittersRCV002308533

NM_001099287.2(NIPAL4):c.587-2A>G

SNV
Germline

Chr5:157472330

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

CA361973023

rs_2532907239

1 SubmittersRCV002470008

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_005094.4(SLC27A4):c.1463-2A>C

SNV
Germline

Chr9:128355396

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

CA375036417

rs_1832802732

1 SubmittersRCV002510421

NM_001378789.1(CERS3):c.686G>A (p.Arg229His)

SNV
Germline

Chr15:100472976

Pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

CA7758971

rs_752230253

1 SubmittersRCV003123559

NM_001374623.1(PNPLA1):c.736C>T (p.Arg246Ter)

SNV
Germline

Chr6:36295385

Likely pathogenic

Lamellar ichthyosis
Autosomal recessive congenital ichthyosis 10

Criteria Provided
Single Submitter

CA3777835

rs_777268917

2 SubmittersRCV003155798 RCV003327596

NM_021628.3(ALOXE3):c.1563-2A>G

SNV
Germline

Chr17:8108591

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

CA8368032

rs_141115577

1 SubmittersRCV003226839

NM_173076.3(ABCA12):c.3470C>T (p.Ser1157Leu)

SNV
Germline

Chr2:214990856

Pathogenic/Likely pathogenic

Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2091728

rs_780940154

2 SubmittersRCV003554990 RCV005240822

NM_005094.4(SLC27A4):c.1628-1G>A

SNV
Germline

Chr9:128355649

Likely pathogenic

Condition: not provided
Ichthyosis prematurity syndrome
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA375037018

rs_1454874748

3 SubmittersRCV003563480 RCV003985904 RCV005407195

NM_173076.3(ABCA12):c.196G>A (p.Gly66Arg)

SNV
Germline

Chr2:215064187

Likely pathogenic

Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA500009

rs_201526979

2 SubmittersRCV003697278 RCV006455722

NM_001374623.1(PNPLA1):c.158C>T (p.Ser53Leu)

SNV
Germline

Chr6:36270617

Likely pathogenic

Lamellar ichthyosis
Autosomal recessive congenital ichthyosis 10

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004690855 RCV005038776

NM_148897.3(SDR9C7):c.826C>T (p.Arg276Cys)

SNV
Germline

Chr12:56923949

Pathogenic/Likely pathogenic

Lamellar ichthyosis
Ichthyosis and erythrokeratoderma

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004690987 RCV005860422

NM_001139.3(ALOX12B):c.352+2T>G

SNV
Germline

Chr17:8086014

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

1 SubmittersRCV004766649

NM_173076.3(ABCA12):c.3548A>G (p.Tyr1183Cys)

SNV
Germline

Chr2:214990778

Pathogenic/Likely pathogenic

Lamellar ichthyosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004766930 RCV005059921

NM_001139.3(ALOX12B):c.324C>G (p.Tyr108Ter)

SNV
Germline

Chr17:8086044

Pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

1 SubmittersRCV004783369

NM_001374623.1(PNPLA1):c.301A>G (p.Arg101Gly)

SNV
Germline

Chr6:36291415

Pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

1 SubmittersRCV004783374

NM_001378789.1(CERS3):c.685C>T (p.Arg229Cys)

SNV
Germline

Chr15:100472977

Pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

1 SubmittersRCV004799889

NM_173483.4(CYP4F22):c.1189C>T (p.Arg397Cys)

SNV
Germline

Chr19:15548160

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

1 SubmittersRCV004799890

NM_021628.3(ALOXE3):c.1981G>T (p.Glu661Ter)

SNV
Germline

Chr17:8096782

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

1 SubmittersRCV004800934

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.1654G>T (p.Gly552Cys)

SNV
Germline

Chr17:8075595

Pathogenic/Likely pathogenic

Lamellar ichthyosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005408446 RCV005422620

NM_000359.3(TGM1):c.1070G>A (p.Gly357Asp)

SNV
Germline

Chr14:24259164

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

1 SubmittersRCV006249067

NM_173076.3(ABCA12):c.1657+1G>A

SNV
Germline

Chr2:215019335

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

1 SubmittersRCV006266238

NM_001139.3(ALOX12B):c.1248C>A (p.Asn416Lys)

SNV
Germline

Chr17:8077017

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

1 SubmittersRCV006266465

NM_173483.4(CYP4F22):c.982G>A (p.Glu328Lys)

SNV
Germline

Chr19:15544013

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

1 SubmittersRCV006453118