Total 17 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 SubmittersRCV000019367 RCV000414388
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	Pathogenic	Keratosis follicularis	No Assertion Criteria Provided		rs_1592839705	1 SubmittersRCV000019369
NM_170665.4(ATP2A2):c.2300A>G (p.Asn767Ser)	SNV Germline	Chr12:110342430	Pathogenic/Likely pathogenic	Condition: not provided Keratosis follicularis Darier disease, acral hemorrhagic type	Criteria Provided Multiple Submitters No Conflicts	CA127417	rs_121912732	3 SubmittersRCV000493249 RCV002288512 RCV000019370
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 SubmittersRCV000019378 RCV001729353
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 SubmittersRCV000022848 RCV000254794
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 SubmittersRCV000403131 RCV002522220
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 SubmittersRCV000390833 RCV002056265 RCV002248516
NM_170665.4(ATP2A2):c.2381T>A (p.Val794Asp)	SNV Germline	Chr12:110343294	Likely pathogenic	Keratosis follicularis	Criteria Provided Single Submitter		rs_1592864859	1 SubmittersRCV000995501
NM_170665.4(ATP2A2):c.2059G>A (p.Val687Ile)	SNV Germline	Chr12:110340956	Conflicting classifications of pathogenicity	Keratosis follicularis Condition: not provided	Criteria Provided Conflicting Classifications		rs_773326317	2 SubmittersRCV001113309 RCV002556211
NM_170665.4(ATP2A2):c.1013C>T (p.Ser338Phe)	SNV Germline	Chr12:110327935	Pathogenic	Keratosis follicularis	Criteria Provided Single Submitter			1 SubmittersRCV003239284
NM_170665.4(ATP2A2):c.220-1G>A	SNV Germline	Chr12:110292019	Likely pathogenic	Keratosis follicularis	Criteria Provided Single Submitter			1 SubmittersRCV003984898