Total 15 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/Likely pathogenic	Familial benign pemphigus	No Assertion Criteria Provided	CA117624	rs_137853013	2 SubmittersRCV000005925
NM_001378687.1(ATP2C1):c.900-1G>A	SNV Germline	Chr3:130963970	Pathogenic	Familial benign pemphigus	No Assertion Criteria Provided		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	No Assertion Criteria Provided		rs_748204512	1 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		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		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		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			1 SubmittersRCV002510487