Total 53 pathogenic variants reported for Autosomal recessive congenital ichthyosis 4B 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser) SNV
Germline		 Chr2:214986566 Pathogenic Autosomal recessive congenital ichthyosis 4A
Condition: not provided
Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252475 rs_28940269

8 SubmittersRCV000002989RCV000255645RCV000763068
NM_173076.3(ABCA12):c.4951G>A (p.Gly1651Ser) SNV
Germline		 Chr2:214978830 Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252476 rs_28940568

4 SubmittersRCV000002990RCV003988819RCV003441701
NM_173076.3(ABCA12):c.4615G>A (p.Glu1539Lys) SNV
Germline		 Chr2:214980608 Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 4A
Condition: not provided
Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Conflicting Classifications
 CA252478 rs_28940271

3 SubmittersRCV000002992RCV004719612RCV005024999
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_173076.3(ABCA12):c.3535G>A (p.Gly1179Arg) SNV
Germline		 Chr2:214990791 Pathogenic Autosomal recessive congenital ichthyosis 4B No Assertion Criteria Provided
 CA252486 rs_267606622

1 SubmittersRCV000002997
NM_173076.3(ABCA12):c.485C>T (p.Ala162Val) SNV
Germline		 Chr2:215052509 Conflicting classifications of pathogenicity Condition: not provided
Congenital ichthyosis of skin
not specified
ABCA12-related disorder
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Conflicting Classifications
 CA2092528 rs_149399707

8 SubmittersRCV000224053RCV000300752RCV002265699RCV003907839RCV005365171
NM_173076.3(ABCA12):c.3889C>T (p.Arg1297Ter) SNV
Germline		 Chr2:214987734 Pathogenic Condition: not provided
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2091600 rs_114863111

2 SubmittersRCV000255106RCV003989509
NM_173076.3(ABCA12):c.2140C>T (p.Arg714Ter) SNV
Germline		 Chr2:215011631 Pathogenic Condition: not provided
Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2092022 rs_763481375

3 SubmittersRCV000256167RCV005025402
NM_173076.3(ABCA12):c.1300C>T (p.Arg434Ter) SNV
Germline		 Chr2:215019784 Pathogenic Condition: not provided
Lamellar ichthyosis
Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588335 rs_757520757

4 SubmittersRCV000255533RCV004800366RCV004796133
NM_173076.3(ABCA12):c.859C>T (p.Arg287Ter) SNV
Germline		 Chr2:215045850 Pathogenic Autosomal recessive congenital ichthyosis 4B
Condition: not provided
Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588336 rs_11891778

5 SubmittersRCV000056334RCV000255175RCV000678039RCV005025401
NM_173076.3(ABCA12):c.5548T>C (p.Ser1850Pro) SNV
Germline		 Chr2:214973963 Conflicting classifications of pathogenicity Congenital ichthyosis of skin
Autosomal recessive congenital ichthyosis 4B
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2091195 rs_151083083

4 SubmittersRCV000382053RCV002051702RCV003574754RCV003362759
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser) SNV
Germline		 Chr2:215012059 Conflicting classifications of pathogenicity Congenital ichthyosis of skin
Condition: not provided
Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B
not specified
ABCA12-related disorder		 Criteria Provided
Conflicting Classifications
 CA2092073 rs_147218173

7 SubmittersRCV000345632RCV001358602RCV002487485RCV003155165RCV004742388
NM_173076.3(ABCA12):c.130C>T (p.Arg44Trp) SNV
Germline		 Chr2:215111630 Likely pathogenic Condition: not provided
Autosomal recessive congenital ichthyosis 4B
Autosomal recessive congenital ichthyosis 4A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2092660 rs_201542666

2 SubmittersRCV000422417RCV002502566
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_173076.3(ABCA12):c.5939+4A>G SNV
Germline		 Chr2:214959020 Likely pathogenic Autosomal recessive congenital ichthyosis 4B No Assertion Criteria Provided
 CA645372376 rs_1131692156

1 SubmittersRCV000494735
NM_173076.3(ABCA12):c.6234-1G>C SNV
Germline		 Chr2:214955362 Pathogenic Autosomal recessive congenital ichthyosis 4B Criteria Provided
Multiple Submitters
No Conflicts
 CA350447622 rs_1553520468

2 SubmittersRCV000578204
NM_173076.3(ABCA12):c.693+1G>A SNV
Germline		 Chr2:215049625 Likely pathogenic Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Single Submitter
 CA64826633 rs_957637813

1 SubmittersRCV005021166
NM_173076.3(ABCA12):c.7277G>A (p.Arg2426Gln) SNV
Germline		 Chr2:214945067 Likely pathogenic Autosomal recessive congenital ichthyosis 4B
Lamellar ichthyosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2090692 rs_761068277

3 SubmittersRCV000782386RCV005240565RCV003718291
NM_173076.3(ABCA12):c.7276C>T (p.Arg2426Trp) SNV
Germline		 Chr2:214945068 Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 4B
Condition: not provided
Autosomal recessive congenital ichthyosis 4B
Autosomal recessive congenital ichthyosis 4A		 Criteria Provided
Conflicting Classifications
 CA2090693 rs_771593783

3 SubmittersRCV000782418RCV003718293RCV004796309
NM_173076.3(ABCA12):c.7247C>T (p.Pro2416Leu) SNV
Germline		 Chr2:214945097 Likely pathogenic Autosomal recessive congenital ichthyosis 4B
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2090699 rs_764355087

2 SubmittersRCV000782417RCV003718292
NM_173076.3(ABCA12):c.3446T>C (p.Leu1149Pro) SNV
Germline		 Chr2:214990880 Likely pathogenic Autosomal recessive congenital ichthyosis 4B Criteria Provided
Single Submitter
 CA350469103 rs_1559134341

1 SubmittersRCV000782415
NM_173076.3(ABCA12):c.7631C>T (p.Thr2544Ile) SNV
Germline		 Chr2:214934127 Conflicting classifications of pathogenicity Condition: not provided
Congenital ichthyosis of skin
ABCA12-related disorder
Autosomal recessive congenital ichthyosis 4B
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2090597 rs_146834697

6 SubmittersRCV000888409RCV001141721RCV003948396RCV005359642RCV005318550
NM_173076.3(ABCA12):c.5393C>T (p.Pro1798Leu) SNV
Germline		 Chr2:214974853 Conflicting classifications of pathogenicity Congenital ichthyosis of skin
Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2091230 rs_181314573

3 SubmittersRCV001143648RCV002505718RCV003546649
NM_173076.3(ABCA12):c.5878C>T (p.Arg1960Ter) SNV
Germline		 Chr2:214966854 Likely pathogenic Autosomal recessive congenital ichthyosis 4B
Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Multiple Submitters
No Conflicts
 CA64806915 rs_769753487

2 SubmittersRCV003238176RCV005021873
NM_173076.3(ABCA12):c.3882G>A (p.Trp1294Ter) SNV
Germline		 Chr2:214987741 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive congenital ichthyosis 4B
Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B
Autosomal recessive congenital ichthyosis 4A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350464973 rs_1452228678

6 SubmittersRCV001780568RCV003229060RCV005361723RCV003448419
NM_173076.3(ABCA12):c.2078C>A (p.Ser693Tyr) SNV
Germline		 Chr2:215012014 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Conflicting Classifications
 CA2092061 rs_148445044

3 SubmittersRCV001907598RCV005361773
NM_173076.3(ABCA12):c.3656C>T (p.Ala1219Val) SNV
Germline		 Chr2:214989590 Pathogenic Autosomal recessive congenital ichthyosis 4B No Assertion Criteria Provided
 CA350467975 rs_80181772

1 SubmittersRCV002248367
NM_173076.3(ABCA12):c.7344-1G>C SNV
Germline		 Chr2:214943018 Pathogenic Autosomal recessive congenital ichthyosis 4B No Assertion Criteria Provided
 CA350793538 rs_2105917562

1 SubmittersRCV002260529
NM_173076.3(ABCA12):c.5848C>T (p.Arg1950Ter) SNV
Germline		 Chr2:214966884 Pathogenic Condition: not provided
Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2091093 rs_375437551

2 SubmittersRCV002651601RCV004796770
NM_173076.3(ABCA12):c.3666C>A (p.Tyr1222Ter) SNV
Germline		 Chr2:214989580 Pathogenic Condition: not provided
Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Single Submitter
 CA350467952 rs_1699869352

2 SubmittersRCV002651602RCV004776457
NM_173076.3(ABCA12):c.4543C>T (p.Arg1515Ter) SNV
Germline		 Chr2:214982223 Pathogenic Condition: not provided
Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2091458 rs_748413124

2 SubmittersRCV003554988RCV005014770
NM_173076.3(ABCA12):c.985+1G>A SNV
Germline		 Chr2:215036952 Likely pathogenic Condition: not provided
Autosomal recessive congenital ichthyosis 4B
Autosomal recessive congenital ichthyosis 4A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350451553 rs_2469385599

2 SubmittersRCV003686062RCV005030179
NM_173076.3(ABCA12):c.4798C>T (p.Gln1600Ter) SNV
Germline		 Chr2:214978983 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350460253 rs_1699587892

2 SubmittersRCV003829838RCV005015007
NM_173076.3(ABCA12):c.6963-1G>A SNV
Germline		 Chr2:214948738 Likely pathogenic Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Single Submitter

1 SubmittersRCV005018463
NM_173076.3(ABCA12):c.4977G>A (p.Glu1659=) SNV
Germline		 Chr2:214978804 Likely pathogenic Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Single Submitter

1 SubmittersRCV005018465
NM_173076.3(ABCA12):c.4601C>T (p.Thr1534Met) SNV
Germline		 Chr2:214980622 Likely pathogenic Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Single Submitter

1 SubmittersRCV005018466
NM_173076.3(ABCA12):c.1657+2T>G SNV
Germline		 Chr2:215019334 Likely pathogenic Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Single Submitter

1 SubmittersRCV005018467
NM_173076.3(ABCA12):c.693+1G>T SNV
Germline		 Chr2:215049625 Likely pathogenic Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Single Submitter

1 SubmittersRCV005018471
NM_173076.3(ABCA12):c.517C>T (p.Gln173Ter) SNV
Germline		 Chr2:215049802 Likely pathogenic Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Single Submitter

1 SubmittersRCV005018472
NM_173076.3(ABCA12):c.873-2A>G SNV
Germline		 Chr2:215037067 Pathogenic Autosomal recessive congenital ichthyosis 4B Criteria Provided
Single Submitter

1 SubmittersRCV005253400