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 SubmittersRCV000005925RCV005089183

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 SubmittersRCV001144318RCV003769693

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 SubmittersRCV001150520RCV003737001

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 SubmittersRCV003006477RCV005034582

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 SubmittersRCV004797360RCV006332424