Total 72 pathogenic variants reported for Lamellar ichthyosis 
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

8 SubmittersRCV000000957RCV000412942RCV001582456
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 SubmittersRCV000000959RCV001731266
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 SubmittersRCV000001799RCV000436418RCV004579514
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

16 SubmittersRCV000001801RCV000254897RCV001729333RCV001844003
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 SubmittersRCV000002996RCV000413290RCV001352680RCV003317028
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 SubmittersRCV000006102RCV002512818RCV003398450
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 SubmittersRCV000013301RCV000807794RCV001778651
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

11 SubmittersRCV000013303RCV000520296RCV002281702
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

7 SubmittersRCV000013304RCV001055476RCV001813977RCV003398494
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 SubmittersRCV000013307RCV000413167RCV003317033
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) SNV
Germline		 Chr14:24259087 Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1
Lamellar ichthyosis
Condition: not provided
Abnormality of the skin
TGM1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256466 rs_121918722

8 SubmittersRCV000013310RCV001582478RCV001379756RCV001813978RCV003894800
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 SubmittersRCV000013313RCV001857339RCV003226158
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 SubmittersRCV000013322RCV000795243RCV002281703
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 SubmittersRCV000013323RCV001219929RCV001526608RCV003230360
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys) SNV
Germline		 Chr14:24259745 Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1
Lamellar ichthyosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA261151 rs_397514525

7 SubmittersRCV000032727RCV003317052RCV001852657
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp) SNV
Germline		 Chr17:8075607 Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 2
Condition: not provided
Congenital ichthyosiform erythroderma
Congenital nonbullous ichthyosiform erythroderma
Lamellar ichthyosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA261171 rs_397514532

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

12 SubmittersRCV000032744RCV000414880RCV000413764RCV002222361
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 SubmittersRCV000162300RCV002265622
NM_021830.5(TWNK):c.967C>T (p.Arg323Ter) SNV
Germline		 Chr10:100989177 Pathogenic/Likely pathogenic Condition: not provided
Infantile onset spinocerebellar ataxia
Lamellar ichthyosis
Loeys-Dietz syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA323373 rs_863223919

4 SubmittersRCV000198844RCV004579540RCV004526638RCV004541262
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 SubmittersRCV000201260RCV000755138RCV002469062
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 SubmittersRCV000255637RCV001289939RCV003155138
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 SubmittersRCV000381439RCV000670709RCV002222463
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 SubmittersRCV000329115RCV000673549RCV003226271
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

14 SubmittersRCV000032747RCV000295913RCV000615069RCV001844106RCV003920029
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 SubmittersRCV000320209RCV001046072RCV003323509
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 SubmittersRCV000414650RCV000791228RCV001729571RCV001797712
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 SubmittersRCV000413014RCV000599792RCV000762928
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 SubmittersRCV000480311RCV000677681RCV002231097
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 SubmittersRCV000483411RCV000669357RCV003230514
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 SubmittersRCV000521059RCV000671220RCV002271520
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 SubmittersRCV000519659RCV001192957RCV000665611RCV003900087
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 SubmittersRCV000521467RCV001291298RCV001849396
NM_006567.5(FARS2):c.919C>T (p.Arg307Ter) SNV
Germline		 Chr6:5545194 Pathogenic Combined oxidative phosphorylation defect type 14
Condition: not provided
Lamellar ichthyosis
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
FARS2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3623835 rs_148620369

3 SubmittersRCV000527357RCV000598985RCV004525974RCV004543214RCV004579555
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 SubmittersRCV000672174RCV001592854RCV003387906
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 SubmittersRCV000678426RCV001552346RCV003155281
NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln) SNV
Germline		 Chr19:15544228 Likely pathogenic Autosomal recessive congenital ichthyosis 5
Lamellar ichthyosis		 Criteria Provided
Single Submitter
 rs_769229606

2 SubmittersRCV000678433RCV003117484
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

2 SubmittersRCV002535648RCV003226390
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 SubmittersRCV000782372RCV001576631RCV004576967
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 SubmittersRCV000782398RCV003117573
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 SubmittersRCV000782385RCV003987705
NM_022356.4(P3H1):c.232C>T (p.Gln78Ter) SNV
Germline		 Chr1:42766740 Pathogenic Osteogenesis imperfecta type 8
Lamellar ichthyosis
Osteogenesis imperfecta		 Criteria Provided
Single Submitter
 rs_1330779100

2 SubmittersRCV000786860RCV004526769RCV004579563
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 SubmittersRCV000791234RCV001560911RCV003155312
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 SubmittersRCV000791221RCV003387930
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 SubmittersRCV000995866RCV001092490RCV003226414
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 SubmittersRCV001262620RCV002282503
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

3 SubmittersRCV001289523RCV002222692RCV003405498
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 SubmittersRCV001289944RCV003492244
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 SubmittersRCV001289514RCV002509651RCV003238858
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 SubmittersRCV001902814RCV002266049
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 SubmittersRCV001886306RCV002282629
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 SubmittersRCV002272734RCV003324012
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 SubmittersRCV003155798RCV003327596
NM_021628.3(ALOXE3):c.1563-2A>G SNV
Germline		 Chr17:8108591 Likely pathogenic Lamellar ichthyosis Criteria Provided
Single Submitter

1 SubmittersRCV003226839