A total 6 pathogenic variants reported in gene solute carrier family 30 member 7 (SLC30A7)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_133496.5(SLC30A7):c.842+15T>C SNV
Germline
Chr1:100921856 Likely pathogenic Ziegler-Huang syndrome
Testicular atrophy
Criteria Provided
Single Submitter
CA2580060693 rs_2524688991

2 SubmittersRCV003326015RCV003222416

NM_133496.5(SLC30A7):c.785G>A (p.Gly262Asp) SNV
Germline
Chr1:100921784 Conflicting classifications of pathogenicity Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA972210 rs_140753374

2 SubmittersRCV002979748RCV004065288

NM_133496.5(SLC30A7):c.296+1G>A SNV
Germline
Chr1:100906966 Likely pathogenic Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005860830