Total 14 pathogenic variants reported for Acrodermatitis continua suppurativa of Hallopeau

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_012275.3(IL36RN):c.80T>C (p.Leu27Pro)	SNV Germline	Chr2:113060902	Pathogenic	Generalized pustular psoriasis Condition: not provided Acrodermatitis continua suppurativa of Hallopeau	Criteria Provided Multiple Submitters No Conflicts	CA129266	rs_387906914	3 SubmittersRCV000023446 RCV001090265 RCV002508133
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)	SNV Germline	Chr2:113062547	Conflicting classifications of pathogenicity	Generalized pustular psoriasis Condition: not provided Autoinflammatory syndrome Acrodermatitis continua suppurativa of Hallopeau IL36RN-related disorder	Criteria Provided Conflicting Classifications	CA129270	rs_144478519	15 SubmittersRCV000023447 RCV000513043 RCV002262572 RCV002288518 RCV003415734
NM_012275.3(IL36RN):c.115+6T>C	SNV Germline	Chr2:113060943	Pathogenic/Likely pathogenic	Generalized pustular psoriasis Autoinflammatory syndrome Acrodermatitis continua suppurativa of Hallopeau IL36RN-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA130699	rs_148755083	12 SubmittersRCV000033132 RCV002262597 RCV002508136 RCV003914894 RCV005411304
NM_012275.3(IL36RN):c.368C>G (p.Thr123Arg)	SNV Germline	Chr2:113062577	Pathogenic	Acrodermatitis continua suppurativa of Hallopeau	No Assertion Criteria Provided	CA130700	rs_397514629	1 SubmittersRCV002508137
NM_012275.3(IL36RN):c.28C>T (p.Arg10Ter)	SNV Germline	Chr2:113059466	Conflicting classifications of pathogenicity	Generalized pustular psoriasis Acrodermatitis continua suppurativa of Hallopeau	Criteria Provided Conflicting Classifications	CA130704	rs_397514630	4 SubmittersRCV000033134 RCV002508138
NM_012275.3(IL36RN):c.*401A>T	SNV Germline	Chr2:113063078	Conflicting classifications of pathogenicity	Generalized pustular psoriasis Condition: not provided Acrodermatitis continua suppurativa of Hallopeau	Criteria Provided Conflicting Classifications	CA10611015	rs_3180234	3 SubmittersRCV000283822 RCV004709861 RCV003326133
NM_012275.3(IL36RN):c.*222T>C	SNV Germline	Chr2:113062899	Conflicting classifications of pathogenicity	Generalized pustular psoriasis Acrodermatitis continua suppurativa of Hallopeau Condition: not provided	Criteria Provided Conflicting Classifications	CA10611806	rs_2515401	3 SubmittersRCV000262540 RCV003326130 RCV004708352
NM_012275.3(IL36RN):c.*326C>A	SNV Germline	Chr2:113063003	Conflicting classifications of pathogenicity	Generalized pustular psoriasis Condition: not provided Acrodermatitis continua suppurativa of Hallopeau	Criteria Provided Conflicting Classifications	CA10611813	rs_2515402	3 SubmittersRCV000323693 RCV004708354 RCV003326132
NM_012275.3(IL36RN):c.*560C>G	SNV Germline	Chr2:113063237	Conflicting classifications of pathogenicity	Generalized pustular psoriasis Condition: not provided Acrodermatitis continua suppurativa of Hallopeau	Criteria Provided Conflicting Classifications	CA10611820	rs_2472188	3 SubmittersRCV000289570 RCV004708357 RCV003326135
NM_012275.3(IL36RN):c.*276A>G	SNV Germline	Chr2:113062953	Conflicting classifications of pathogenicity	Generalized pustular psoriasis Condition: not provided Acrodermatitis continua suppurativa of Hallopeau	Criteria Provided Conflicting Classifications	CA10611930	rs_1800930	3 SubmittersRCV000317835 RCV004708353 RCV003326131
NM_012275.3(IL36RN):c.*418A>G	SNV Germline	Chr2:113063095	Conflicting classifications of pathogenicity	Generalized pustular psoriasis Condition: not provided Acrodermatitis continua suppurativa of Hallopeau	Criteria Provided Conflicting Classifications	CA10611931	rs_3180235	3 SubmittersRCV000348147 RCV004708355 RCV003326134
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu)	SNV Germline	Chr2:113062235	Conflicting classifications of pathogenicity	Generalized pustular psoriasis Condition: not provided Acrodermatitis continua suppurativa of Hallopeau	Criteria Provided Conflicting Classifications	CA1838389	rs_139497891	7 SubmittersRCV000697421 RCV000997194 RCV004796284
NM_012275.3(IL36RN):c.338C>A (p.Ser113Ter)	SNV Germline	Chr2:113062547	Likely pathogenic	Acrodermatitis continua suppurativa of Hallopeau	Criteria Provided Single Submitter	CA1838443	rs_144478519	1 SubmittersRCV003328076