Total 38 pathogenic variants reported for Keratosis follicularis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_170665.4(ATP2A2):c.68G>A (p.Gly23Glu) SNV
Germline		 Chr12:110281857 Pathogenic Keratosis follicularis
Condition: not provided		 Criteria Provided
Single Submitter
 CA127413 rs_28929478

2 SubmittersRCV000019367RCV000414388
NM_170665.4(ATP2A2):c.322C>T (p.Gln108Ter) SNV
Germline		 Chr12:110292122 Pathogenic Keratosis follicularis No Assertion Criteria Provided
 CA127415 rs_121912731

1 SubmittersRCV000019368
NM_170665.4(ATP2A2):c.544+1G>A SNV
Germline		 Chr12:110323073 Likely pathogenic Keratosis follicularis
Condition: not provided		 Criteria Provided
Single Submitter
 CA386664743 rs_1592839705

2 SubmittersRCV000019369RCV005251043
NM_170665.4(ATP2A2):c.2300A>G (p.Asn767Ser) SNV
Germline		 Chr12:110342430 Pathogenic/Likely pathogenic Darier disease, acral hemorrhagic type
Condition: not provided
Keratosis follicularis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127417 rs_121912732

3 SubmittersRCV000019370RCV000493249RCV002288512
NM_170665.4(ATP2A2):c.1678T>C (p.Cys560Arg) SNV
Germline		 Chr12:110339638 Pathogenic Keratosis follicularis No Assertion Criteria Provided
 CA127421 rs_121912734

1 SubmittersRCV000019372
NM_170665.4(ATP2A2):c.392G>A (p.Arg131Gln) SNV
Germline		 Chr12:110296666 Pathogenic Keratosis follicularis
Condition: not provided		 Criteria Provided
Single Submitter
 CA127429 rs_121912738

4 SubmittersRCV000019378RCV001729353
NM_015884.4(MBTPS2):c.1523A>G (p.Asn508Ser) SNV
Germline		 ChrX:21882618 Pathogenic Keratosis follicularis spinulosa decalvans, X-linked
Condition: not provided		 Criteria Provided
Single Submitter
 CA128790 rs_587776867

2 SubmittersRCV000022848RCV000254794
NM_170665.4(ATP2A2):c.94C>T (p.Leu32Phe) SNV
Germline		 Chr12:110281883 Conflicting classifications of pathogenicity Keratosis follicularis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6783577 rs_141335001

3 SubmittersRCV000403131RCV002522220
NM_170665.4(ATP2A2):c.2945C>T (p.Thr982Met) SNV
Germline		 Chr12:110346286 Conflicting classifications of pathogenicity Keratosis follicularis
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA6784257 rs_149024535

3 SubmittersRCV000390833RCV002056265RCV002248516
NM_170665.4(ATP2A2):c.*3823A>C SNV
Germline		 Chr12:110350293 Conflicting classifications of pathogenicity Keratosis follicularis
not specified		 Criteria Provided
Conflicting Classifications
 CA6784335 rs_193112984

2 SubmittersRCV000306120RCV004586675
NM_170665.4(ATP2A2):c.2381T>A (p.Val794Asp) SNV
Germline		 Chr12:110343294 Likely pathogenic Keratosis follicularis Criteria Provided
Single Submitter
 CA386676034 rs_1592864859

1 SubmittersRCV000995501
NM_170665.4(ATP2A2):c.1627A>G (p.Lys543Glu) SNV
Germline		 Chr12:110339587 Conflicting classifications of pathogenicity Keratosis follicularis
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6783942 rs_766125552

2 SubmittersRCV001111298RCV004963121
NM_170665.4(ATP2A2):c.2059G>A (p.Val687Ile) SNV
Germline		 Chr12:110340956 Conflicting classifications of pathogenicity Keratosis follicularis
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6784026 rs_773326317

3 SubmittersRCV001113309RCV002556211RCV004686635
NM_170665.4(ATP2A2):c.2039C>T (p.Pro680Leu) SNV
Germline/somatic		 Chr12:110340936 Pathogenic Condition: not provided
Keratosis follicularis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA386675246 rs_2137856827

2 SubmittersRCV001550888RCV005251283
NM_015884.4(MBTPS2):c.527G>A (p.Gly176Glu) SNV
Unknown		 ChrX:21851597 Conflicting classifications of pathogenicity Keratosis follicularis spinulosa decalvans, X-linked
Osteogenesis imperfecta, type 19
Olmsted syndrome, X-linked
IFAP syndrome 1, with or without BRESHECK syndrome
MBTPS2-related disorder		 Criteria Provided
Conflicting Classifications
 CA412562808 rs_2519561020

2 SubmittersRCV003148094RCV003148097RCV003148096RCV003148095RCV005430864
NM_170665.4(ATP2A2):c.1013C>T (p.Ser338Phe) SNV
Germline		 Chr12:110327935 Pathogenic Keratosis follicularis Criteria Provided
Single Submitter
 CA386668523 rs_2548553884

1 SubmittersRCV003239284
NM_170665.4(ATP2A2):c.2104G>A (p.Asp702Asn) SNV
Germline/somatic		 Chr12:110342234 Pathogenic Condition: not provided
Keratosis follicularis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA386675402 rs_2548563282

3 SubmittersRCV003557787RCV005251365
NM_170665.4(ATP2A2):c.220-1G>A SNV
Germline		 Chr12:110292019 Likely pathogenic Keratosis follicularis Criteria Provided
Single Submitter
 CA386914457 rs_1873370871

1 SubmittersRCV003984898
NM_170665.4(ATP2A2):c.1060G>C (p.Gly354Arg) SNV
Germline		 Chr12:110327982 Likely pathogenic Keratosis follicularis No Assertion Criteria Provided

1 SubmittersRCV005251394
NM_170665.4(ATP2A2):c.1858G>T (p.Val620Phe) SNV
Germline		 Chr12:110340755 Likely pathogenic Keratosis follicularis No Assertion Criteria Provided

1 SubmittersRCV005251399
NM_170665.4(ATP2A2):c.2161T>C (p.Ser721Pro) SNV
Germline		 Chr12:110342291 Likely pathogenic Keratosis follicularis No Assertion Criteria Provided

1 SubmittersRCV005251400
NM_170665.4(ATP2A2):c.2318+2T>C SNV
Germline		 Chr12:110342450 Likely pathogenic Keratosis follicularis No Assertion Criteria Provided

1 SubmittersRCV005251402
NM_170665.4(ATP2A2):c.269A>T (p.Glu90Val) SNV
Germline		 Chr12:110292069 Likely pathogenic Keratosis follicularis No Assertion Criteria Provided

1 SubmittersRCV005251405
NM_170665.4(ATP2A2):c.712G>T (p.Glu238Ter) SNV
Germline		 Chr12:110327634 Likely pathogenic Keratosis follicularis No Assertion Criteria Provided

1 SubmittersRCV005251408
NM_170665.4(ATP2A2):c.943A>T (p.Ile315Phe) SNV
Germline		 Chr12:110327865 Likely pathogenic Keratosis follicularis No Assertion Criteria Provided

1 SubmittersRCV005251410