Total 18 pathogenic variants reported for Familial benign pemphigus

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001378687.1(ATP2C1):c.910G>A (p.Ala304Thr)	SNV Germline	Chr3:130963981	Pathogenic	Familial benign pemphigus	No Assertion Criteria Provided	CA117622	rs_137853012	1 SubmittersRCV000005924
NM_001378687.1(ATP2C1):c.1402C>T (p.Arg468Ter)	SNV Germline	Chr3:130969385	Pathogenic	Familial benign pemphigus Condition: not provided	Criteria Provided Single Submitter	CA117624	rs_137853013	3 SubmittersRCV000005925 RCV005089183
NM_001378687.1(ATP2C1):c.900-1G>A	SNV Germline	Chr3:130963970	Pathogenic	Familial benign pemphigus	No Assertion Criteria Provided	CA354537706	rs_1559982055	1 SubmittersRCV000005927
NM_001378687.1(ATP2C1):c.1469G>T (p.Cys490Phe)	SNV Germline	Chr3:130975387	Pathogenic	Familial benign pemphigus	No Assertion Criteria Provided	CA117626	rs_137853014	1 SubmittersRCV000005928
NM_001378687.1(ATP2C1):c.1751T>C (p.Leu584Pro)	SNV Germline	Chr3:130980591	Pathogenic	Familial benign pemphigus	No Assertion Criteria Provided	CA117628	rs_137853015	1 SubmittersRCV000005930
NM_001378687.1(ATP2C1):c.2126+1G>A	SNV Germline	Chr3:130996112	Pathogenic	Familial benign pemphigus	Criteria Provided Single Submitter	CA2615303	rs_748204512	2 SubmittersRCV000005931
NM_001378687.1(ATP2C1):c.635C>T (p.Ser212Leu)	SNV Germline	Chr3:130953924	Conflicting classifications of pathogenicity	Familial benign pemphigus Condition: not provided	Criteria Provided Conflicting Classifications	CA2614878	rs_200427297	2 SubmittersRCV001144318 RCV003769693
NM_001378687.1(ATP2C1):c.2439A>G (p.Thr813=)	SNV Germline	Chr3:130998341	Conflicting classifications of pathogenicity	Familial benign pemphigus Condition: not provided	Criteria Provided Conflicting Classifications	CA2615385	rs_576648874	2 SubmittersRCV001150520 RCV003737001
NM_001378687.1(ATP2C1):c.900-1G>C	SNV Germline	Chr3:130963970	Pathogenic	Familial benign pemphigus	No Assertion Criteria Provided	CA354537707	rs_1559982055	1 SubmittersRCV001845026
NM_001378687.1(ATP2C1):c.1570+3A>C	SNV Germline	Chr3:130975491	Likely pathogenic	Familial benign pemphigus	No Assertion Criteria Provided	CA2580068756	rs_997949050	1 SubmittersRCV002510487
NM_001378687.1(ATP2C1):c.1356C>A (p.Tyr452Ter)	SNV Germline	Chr3:130969339	Pathogenic/Likely pathogenic	Condition: not provided Familial benign pemphigus	Criteria Provided Multiple Submitters No Conflicts	CA354540204	rs_2531133399	2 SubmittersRCV003006477 RCV005034582
NM_001378687.1(ATP2C1):c.661A>G (p.Thr221Ala)	SNV Germline	Chr3:130953950	Conflicting classifications of pathogenicity	Familial benign pemphigus Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV004797360 RCV006332424