Total 13 pathogenic variants reported for Dowling-Degos disease

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000424.4(KRT5):c.14C>A (p.Ser5Ter)	SNV Germline	Chr12:52520283	Pathogenic	Dowling-Degos disease 1 Condition: not provided	No Assertion Criteria Provided	CA124171	rs_58751565	2 SubmittersRCV000015753 RCV000056572
NM_015352.2(POFUT1):c.430G>T (p.Glu144Ter)	SNV Germline	Chr20:32216609	Pathogenic	Dowling-Degos disease 2	No Assertion Criteria Provided	CA144510	rs_398123038	1 SubmittersRCV000050207
NM_000424.4(KRT5):c.991C>T (p.Arg331Cys)	SNV Germline	Chr12:52517691	Pathogenic	Condition: not provided Epidermolysis bullosa simplex 1C, localized Dowling-Degos disease 1	Criteria Provided Multiple Submitters No Conflicts	CA216815	rs_61297109	4 SubmittersRCV000056660 RCV000503703 RCV003333731
NM_152305.3(POGLUT1):c.11G>A (p.Trp4Ter)	SNV Germline	Chr3:119469032	Pathogenic/Likely pathogenic	Dowling-Degos disease 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA151188	rs_587777293	3 SubmittersRCV000114419 RCV002515788
NM_152305.3(POGLUT1):c.652C>T (p.Arg218Ter)	SNV Germline	Chr3:119486846	Pathogenic	Dowling-Degos disease 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA151190	rs_587777294	3 SubmittersRCV000114420 RCV000820407
NM_152305.3(POGLUT1):c.798-2A>C	SNV Germline	Chr3:119490549	Pathogenic	Dowling-Degos disease 4	No Assertion Criteria Provided	CA151192	rs_587777295	1 SubmittersRCV000114421
NM_015352.2(POFUT1):c.289C>T (p.Gln97Ter)	SNV Germline	Chr20:32215311	Pathogenic	Dowling-Degos disease 2	Criteria Provided Single Submitter		rs_1569152303	1 SubmittersRCV000696298
NM_015352.2(POFUT1):c.836C>T (p.Thr279Met)	SNV Germline	Chr20:32230919	Conflicting classifications of pathogenicity	Dowling-Degos disease 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_148668069	2 SubmittersRCV002082417 RCV004044951
NM_000424.4(KRT5):c.597G>C (p.Lys199Asn)	SNV Germline	Chr12:52519119	Pathogenic/Likely pathogenic	Condition: not provided Dowling-Degos disease 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003062518 RCV003225775