Total 27 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/Likely pathogenic Autosomal recessive congenital ichthyosis 4A
Condition: not provided
Autosomal recessive congenital ichthyosis 4B
Autosomal recessive congenital ichthyosis 4A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252475 rs_28940269

8 SubmittersRCV000002989RCV000255645RCV000763068
NM_173076.3(ABCA12):c.4951G>A (p.Gly1651Ser) SNV
Germline		 Chr2:214978830 Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 4A
Condition: not provided
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Conflicting Classifications
 CA252476 rs_28940568

4 SubmittersRCV000002990RCV003441701RCV003988819
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.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.859C>T (p.Arg287Ter) SNV
Germline		 Chr2:215045850 Pathogenic Autosomal recessive congenital ichthyosis 4B
Condition: not provided
Autosomal recessive congenital ichthyosis 4A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588336 rs_11891778

4 SubmittersRCV000056334RCV000255175RCV000678039
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
not specified
Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B		 Criteria Provided
Conflicting Classifications
 CA2092073 rs_147218173

5 SubmittersRCV000345632RCV001358602RCV003155165RCV002487485
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.7277G>A (p.Arg2426Gln) SNV
Germline		 Chr2:214945067 Likely pathogenic Autosomal recessive congenital ichthyosis 4B
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_761068277

2 SubmittersRCV000782386RCV003718291
NM_173076.3(ABCA12):c.7276C>T (p.Arg2426Trp) SNV
Germline		 Chr2:214945068 Likely pathogenic Autosomal recessive congenital ichthyosis 4B
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_771593783

2 SubmittersRCV000782418RCV003718293
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
 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
 rs_1559134341

1 SubmittersRCV000782415
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
 rs_181314573

3 SubmittersRCV001143648RCV002505718RCV003546649
NM_173076.3(ABCA12):c.5878C>T (p.Arg1960Ter) SNV
Unknown		 Chr2:214966854 Likely pathogenic Autosomal recessive congenital ichthyosis 4B Criteria Provided
Single Submitter
 rs_769753487

1 SubmittersRCV003238176
NM_173076.3(ABCA12):c.3882G>A (p.Trp1294Ter) SNV
Germline		 Chr2:214987741 Pathogenic Condition: not provided
Autosomal recessive congenital ichthyosis 4B
Autosomal recessive congenital ichthyosis 4A		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1452228678

4 SubmittersRCV001780568RCV003229060RCV003448419
NM_173076.3(ABCA12):c.3656C>T (p.Ala1219Val) SNV
Germline		 Chr2:214989590 Pathogenic Autosomal recessive congenital ichthyosis 4B No Assertion Criteria Provided
 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
 rs_2105917562

1 SubmittersRCV002260529