Total 8 pathogenic variants reported for Bartter disease type 5 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_177433.3(MAGED2):c.1038C>G (p.Tyr346Ter) SNV
Germline		 ChrX:54812204 Pathogenic Bartter disease type 5 No Assertion Criteria Provided
 CA10576209 rs_878854404

1 SubmittersRCV000211517
NM_177433.3(MAGED2):c.991-2A>G SNV
Germline		 ChrX:54812155 Pathogenic Bartter disease type 5 No Assertion Criteria Provided
 CA10576210 rs_878854405

1 SubmittersRCV000211544
NM_177433.3(MAGED2):c.1336C>T (p.Arg446Cys) SNV
Germline		 ChrX:54814725 Likely pathogenic Bartter disease type 5
Condition: not provided		 Criteria Provided
Single Submitter
 CA10576212 rs_878854407

2 SubmittersRCV000211522RCV003227716
NM_177433.3(MAGED2):c.397A>T (p.Lys133Ter) SNV
Germline		 ChrX:54810073 Pathogenic Bartter disease type 5 No Assertion Criteria Provided
 CA10576213 rs_875989852

1 SubmittersRCV000211438
NM_177433.3(MAGED2):c.1386+1G>A SNV
Germline		 ChrX:54814776 Likely pathogenic Bartter disease type 5 Criteria Provided
Single Submitter

1 SubmittersRCV002471619
NM_177433.3(MAGED2):c.262C>T (p.Gln88Ter) SNV
Germline		 ChrX:54809938 Pathogenic Bartter disease type 5 Criteria Provided
Single Submitter

1 SubmittersRCV003320417