Total 6 pathogenic variants reported for Pulmonary alveolar microlithiasis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_006424.3(SLC34A2):c.226C>T (p.Gln76Ter) SNV
Germline
Chr4:25662818 Pathogenic PULMONARY ALVEOLAR MICROLITHIASIS No Assertion Criteria Provided
CA117703 rs_137853141

1 SubmittersRCV000006070

NM_006424.3(SLC34A2):c.316G>C (p.Gly106Arg) SNV
Germline
Chr4:25664267 Likely pathogenic PULMONARY ALVEOLAR MICROLITHIASIS Criteria Provided
Single Submitter
CA117705 rs_137853142

2 SubmittersRCV000006071