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	4 SubmittersRCV000001799 RCV000436418 RCV004579514
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)	SNV Germline	Chr5:157468728	Pathogenic	Autosomal recessive congenital ichthyosis 6 Condition: not provided Autosomal recessive congenital ichthyosis Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA251939	rs_199422217	17 SubmittersRCV000001801 RCV000254897 RCV001729333 RCV001844003
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	6 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	5 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	7 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 Abnormality of the skin Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA256463	rs_121918718	7 SubmittersRCV000013304 RCV001813977 RCV001055476 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	8 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	8 SubmittersRCV000013311 RCV000523198 RCV001813979 RCV004586000
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly)	SNV Germline	Chr14:24256011	Conflicting classifications of pathogenicity	Autosomal recessive congenital ichthyosis 1 Condition: not provided Lamellar ichthyosis	Criteria Provided Conflicting Classifications	CA256468	rs_121918724	6 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	10 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	7 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	8 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	13 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	Criteria Provided Multiple Submitters No Conflicts	CA235561	rs_587776384	3 SubmittersRCV000162300 RCV002265622
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 Autosomal recessive congenital ichthyosis 4B Autosomal recessive congenital ichthyosis 4A Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA10588335	rs_757520757	4 SubmittersRCV000255533 RCV004796133 RCV004800366
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	6 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	Criteria Provided Multiple Submitters No Conflicts	CA7131245	rs_142634031	19 SubmittersRCV000290112 RCV000762929 RCV001729500 RCV003930035 RCV004767207
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter)	SNV Germline	Chr14:24261824	Pathogenic	Autosomal recessive congenital ichthyosis 1 Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA10603308	rs_886041250	9 SubmittersRCV000670709 RCV000381439 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	15 SubmittersRCV000032747 RCV000295913 RCV000615069 RCV001844106 RCV003920029
NM_000359.3(TGM1):c.791G>A (p.Arg264Gln)	SNV Germline	Chr14:24260025	Conflicting classifications of pathogenicity	Autosomal recessive congenital ichthyosis 1 Condition: not provided Lamellar ichthyosis	Criteria Provided Conflicting Classifications	CA7131282	rs_781006633	4 SubmittersRCV000320209 RCV001046072 RCV003323509
NM_001099287.2(NIPAL4):c.502G>A (p.Gly168Arg)	SNV Germline	Chr5:157471733	Pathogenic	Condition: not provided Autosomal recessive congenital ichthyosis 6 Autosomal recessive congenital ichthyosis Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA3534666	rs_370356566	4 SubmittersRCV000414650 RCV000791228 RCV001729571 RCV001797712
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	Autosomal recessive congenital ichthyosis 10 Congenital ichthyosiform erythroderma Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA3777677	rs_781053760	5 SubmittersRCV000504558 RCV000845143 RCV003324746 RCV004689731
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	8 SubmittersRCV000483411 RCV000669357 RCV003230514
NM_148897.3(SDR9C7):c.599T>C (p.Ile200Thr)	SNV Germline	Chr12:56929515	Pathogenic/Likely pathogenic	Ichthyosis, congenital, autosomal recessive 13 Condition: not provided Lamellar ichthyosis SDR9C7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6638108	rs_770729222	5 SubmittersRCV000495845 RCV001805113 RCV004782408 RCV003419837
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	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive congenital ichthyosis 1 Lamellar ichthyosis	Criteria Provided Conflicting Classifications	CA7131226	rs_771820315	7 SubmittersRCV000521059 RCV000671220 RCV002271520
NM_000359.3(TGM1):c.232C>T (p.Arg78Ter)	SNV Germline	Chr14:24262121	Pathogenic	Condition: not provided Lamellar ichthyosis Autosomal recessive congenital ichthyosis 1 TGM1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7131506	rs_760429286	9 SubmittersRCV000519659 RCV001192957 RCV000665611 RCV003900087
NM_021628.3(ALOXE3):c.1630C>T (p.Gln544Ter)	SNV Germline	Chr17:8108522	Pathogenic	Condition: not provided Congenital nonbullous ichthyosiform erythroderma Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts	CA8368014	rs_781631629	4 SubmittersRCV000521467 RCV001849396 RCV001291298
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		rs_779287673	6 SubmittersRCV000669383 RCV001070662 RCV004800524
NM_000359.3(TGM1):c.431G>A (p.Gly144Glu)	SNV Germline	Chr14:24261772	Conflicting classifications of pathogenicity	Autosomal recessive congenital ichthyosis 1 Lamellar ichthyosis	Criteria Provided Conflicting Classifications		rs_1465243895	2 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		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 Condition: not provided CYP4F22-related disorder Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts		rs_118091316	8 SubmittersRCV000678420 RCV001731881 RCV004758722 RCV004689851
NM_173483.4(CYP4F22):c.727C>T (p.Arg243Cys)	SNV Germline	Chr19:15540505	Likely pathogenic	Autosomal recessive congenital ichthyosis 5 Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts		rs_768098854	3 SubmittersRCV000678426 RCV001552346 RCV003155281
NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln)	SNV Germline	Chr19:15544228	Pathogenic	Autosomal recessive congenital ichthyosis 5 Lamellar ichthyosis	Criteria Provided Single Submitter		rs_769229606	2 SubmittersRCV000678433 RCV003117484
NM_001139.3(ALOX12B):c.928-2A>G	SNV Germline	Chr17:8079541	Likely pathogenic	Condition: not provided Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts		rs_1567982673	3 SubmittersRCV002535648 RCV003226390
NM_148897.3(SDR9C7):c.112G>A (p.Gly38Arg)	SNV Germline	Chr12:56934150	Conflicting classifications of pathogenicity	Congenital ichthyosis of skin Lamellar ichthyosis Ichthyosis, congenital, autosomal recessive 13	Criteria Provided Conflicting Classifications		rs_764593071	3 SubmittersRCV000782399 RCV004586924 RCV003338790
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		rs_543521135	7 SubmittersRCV000782372 RCV001576631 RCV004576967
NM_021628.3(ALOXE3):c.2065C>T (p.Arg689Trp)	SNV Germline	Chr17:8096698	Likely pathogenic	Autosomal recessive congenital ichthyosis 2 Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts		rs_1311967606	2 SubmittersRCV000782398 RCV003117573
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		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		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		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	Criteria Provided Conflicting Classifications		rs_376074083	3 SubmittersRCV000791221 RCV003387930
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	Criteria Provided Conflicting Classifications		rs_138435128	6 SubmittersRCV000995866 RCV001092490 RCV003226414
NM_152792.4(ASPRV1):c.343A>G (p.Lys115Glu)	SNV Germline	Chr2:69961094	Pathogenic	Autosomal dominant lamellar ichthyosis	No Assertion Criteria Provided		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		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		rs_373824162	1 SubmittersRCV001254870
NM_021628.3(ALOXE3):c.680+1G>A	SNV Germline	Chr17:8114483	Pathogenic	Autosomal recessive congenital ichthyosis 3 Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts		rs_764781178	3 SubmittersRCV001262620 RCV002282503
NM_001139.3(ALOX12B):c.1463G>A (p.Arg488His)	SNV Germline	Chr17:8076244	Pathogenic	Autosomal recessive congenital ichthyosis 2 Lamellar ichthyosis ALOX12B-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_763468558	4 SubmittersRCV001289523 RCV002222692 RCV003405498
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		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 See cases Lamellar ichthyosis	Criteria Provided Multiple Submitters No Conflicts		rs_752176414	3 SubmittersRCV001289949 RCV004797925 RCV004699274
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		rs_201575829	4 SubmittersRCV001289514 RCV002509651 RCV003238858
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		rs_1458824013	2 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		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	Criteria Provided Multiple Submitters No Conflicts		rs_2151820983	2 SubmittersRCV001886306 RCV002282629
NM_173076.3(ABCA12):c.4540C>T (p.Arg1514Cys)	SNV Germline	Chr2:214982226	Conflicting classifications of pathogenicity	Autosomal recessive congenital ichthyosis 4A Condition: not provided Lamellar ichthyosis	Criteria Provided Conflicting Classifications		rs_1266760446	3 SubmittersRCV002052258 RCV003773526 RCV004801139
NM_005094.4(SLC27A4):c.-6-2A>G	SNV Germline	Chr9:128343125	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter		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		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			1 SubmittersRCV002302480
NM_000359.3(TGM1):c.1491+1G>T	SNV Germline	Chr14:24255988	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter			1 SubmittersRCV002308533
NM_001099287.2(NIPAL4):c.587-2A>G	SNV Germline	Chr5:157472330	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter			1 SubmittersRCV002470008
NM_001139.3(ALOX12B):c.1071+2T>C	SNV Germline	Chr17:8079394	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter			1 SubmittersRCV002510317
NM_005094.4(SLC27A4):c.1463-2A>C	SNV Germline	Chr9:128355396	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter			1 SubmittersRCV002510421
NM_001378789.1(CERS3):c.686G>A (p.Arg229His)	SNV Germline	Chr15:100472976	Pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter			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			2 SubmittersRCV003155798 RCV003327596
NM_021628.3(ALOXE3):c.1563-2A>G	SNV Germline	Chr17:8108591	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter			1 SubmittersRCV003226839
NM_001374623.1(PNPLA1):c.158C>T (p.Ser53Leu)	SNV Germline	Chr6:36270617	Likely pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter			1 SubmittersRCV004690855
NM_148897.3(SDR9C7):c.826C>T (p.Arg276Cys)	SNV Germline	Chr12:56923949	Pathogenic	Lamellar ichthyosis	Criteria Provided Single Submitter			1 SubmittersRCV004690987
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	Lamellar ichthyosis	Criteria Provided Single Submitter			1 SubmittersRCV004766930
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_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

4 SubmittersRCV000001799 RCV000436418 RCV004579514

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

SNV
Germline

Chr5:157468728

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251939

rs_199422217

17 SubmittersRCV000001801 RCV000254897 RCV001729333 RCV001844003

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

6 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

5 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

7 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
Abnormality of the skin
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA256463

rs_121918718

7 SubmittersRCV000013304 RCV001813977 RCV001055476 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

8 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

8 SubmittersRCV000013311 RCV000523198 RCV001813979 RCV004586000

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

SNV
Germline

Chr14:24256011

Conflicting classifications of pathogenicity

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Conflicting Classifications

CA256468

rs_121918724

6 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

10 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

7 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

8 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

13 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

Criteria Provided
Multiple Submitters
No Conflicts

CA235561

rs_587776384

3 SubmittersRCV000162300 RCV002265622

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
Autosomal recessive congenital ichthyosis 4B
Autosomal recessive congenital ichthyosis 4A
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10588335

rs_757520757

4 SubmittersRCV000255533 RCV004796133 RCV004800366

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

6 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

Criteria Provided
Multiple Submitters
No Conflicts

CA7131245

rs_142634031

19 SubmittersRCV000290112 RCV000762929 RCV001729500 RCV003930035 RCV004767207

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

SNV
Germline

Chr14:24261824

Pathogenic

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10603308

rs_886041250

9 SubmittersRCV000670709 RCV000381439 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

15 SubmittersRCV000032747 RCV000295913 RCV000615069 RCV001844106 RCV003920029

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

SNV
Germline

Chr14:24260025

Conflicting classifications of pathogenicity

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Conflicting Classifications

CA7131282

rs_781006633

4 SubmittersRCV000320209 RCV001046072 RCV003323509

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

SNV
Germline

Chr5:157471733

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3534666

rs_370356566

4 SubmittersRCV000414650 RCV000791228 RCV001729571 RCV001797712

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3777677

rs_781053760

5 SubmittersRCV000504558 RCV000845143 RCV003324746 RCV004689731

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

8 SubmittersRCV000483411 RCV000669357 RCV003230514

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

SNV
Germline

Chr12:56929515

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6638108

rs_770729222

5 SubmittersRCV000495845 RCV001805113 RCV004782408 RCV003419837

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

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive congenital ichthyosis 1
Lamellar ichthyosis

Criteria Provided
Conflicting Classifications

CA7131226

rs_771820315

7 SubmittersRCV000521059 RCV000671220 RCV002271520

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

SNV
Germline

Chr14:24262121

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7131506

rs_760429286

9 SubmittersRCV000519659 RCV001192957 RCV000665611 RCV003900087

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

SNV
Germline

Chr17:8108522

Pathogenic

Condition: not provided
Congenital nonbullous ichthyosiform erythroderma
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

CA8368014

rs_781631629

4 SubmittersRCV000521467 RCV001849396 RCV001291298

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

rs_779287673

6 SubmittersRCV000669383 RCV001070662 RCV004800524

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

SNV
Germline

Chr14:24261772

Conflicting classifications of pathogenicity

Autosomal recessive congenital ichthyosis 1
Lamellar ichthyosis

Criteria Provided
Conflicting Classifications

rs_1465243895

2 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

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
Condition: not provided
CYP4F22-related disorder
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_118091316

8 SubmittersRCV000678420 RCV001731881 RCV004758722 RCV004689851

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

SNV
Germline

Chr19:15540505

Likely pathogenic

Autosomal recessive congenital ichthyosis 5
Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_768098854

3 SubmittersRCV000678426 RCV001552346 RCV003155281

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

SNV
Germline

Chr19:15544228

Pathogenic

Autosomal recessive congenital ichthyosis 5
Lamellar ichthyosis

Criteria Provided
Single Submitter

rs_769229606

2 SubmittersRCV000678433 RCV003117484

NM_001139.3(ALOX12B):c.928-2A>G

SNV
Germline

Chr17:8079541

Likely pathogenic

Condition: not provided
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567982673

3 SubmittersRCV002535648 RCV003226390

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

SNV
Germline

Chr12:56934150

Conflicting classifications of pathogenicity

Congenital ichthyosis of skin
Lamellar ichthyosis
Ichthyosis, congenital, autosomal recessive 13

Criteria Provided
Conflicting Classifications

rs_764593071

3 SubmittersRCV000782399 RCV004586924 RCV003338790

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

rs_543521135

7 SubmittersRCV000782372 RCV001576631 RCV004576967

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

SNV
Germline

Chr17:8096698

Likely pathogenic

Autosomal recessive congenital ichthyosis 2
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1311967606

2 SubmittersRCV000782398 RCV003117573

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_376074083

3 SubmittersRCV000791221 RCV003387930

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

Criteria Provided
Conflicting Classifications

rs_138435128

6 SubmittersRCV000995866 RCV001092490 RCV003226414

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

SNV
Germline

Chr2:69961094

Pathogenic

Autosomal dominant lamellar ichthyosis

No Assertion Criteria Provided

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

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

rs_373824162

1 SubmittersRCV001254870

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

SNV
Germline

Chr17:8114483

Pathogenic

Autosomal recessive congenital ichthyosis 3
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_764781178

3 SubmittersRCV001262620 RCV002282503

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

SNV
Germline

Chr17:8076244

Pathogenic

Autosomal recessive congenital ichthyosis 2
Lamellar ichthyosis
ALOX12B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_763468558

4 SubmittersRCV001289523 RCV002222692 RCV003405498

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

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
See cases
Lamellar ichthyosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_752176414

3 SubmittersRCV001289949 RCV004797925 RCV004699274

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

rs_201575829

4 SubmittersRCV001289514 RCV002509651 RCV003238858

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

rs_1458824013

2 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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151820983

2 SubmittersRCV001886306 RCV002282629

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

SNV
Germline

Chr2:214982226

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1266760446

3 SubmittersRCV002052258 RCV003773526 RCV004801139

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

SNV
Germline

Chr9:128343125

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV002302480

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

SNV
Germline

Chr14:24255988

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

1 SubmittersRCV002308533

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

SNV
Germline

Chr5:157472330

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

1 SubmittersRCV002470008

NM_001139.3(ALOX12B):c.1071+2T>C

SNV
Germline

Chr17:8079394

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

1 SubmittersRCV002510317

NM_005094.4(SLC27A4):c.1463-2A>C

SNV
Germline

Chr9:128355396

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

1 SubmittersRCV002510421

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

SNV
Germline

Chr15:100472976

Pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

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

2 SubmittersRCV003155798 RCV003327596

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

SNV
Germline

Chr17:8108591

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

1 SubmittersRCV003226839

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

SNV
Germline

Chr6:36270617

Likely pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

1 SubmittersRCV004690855

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

SNV
Germline

Chr12:56923949

Pathogenic

Lamellar ichthyosis

Criteria Provided
Single Submitter

1 SubmittersRCV004690987

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

Lamellar ichthyosis

Criteria Provided
Single Submitter

1 SubmittersRCV004766930

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