Total 9 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
NM_006424.3(SLC34A2):c.927+1G>C	SNV Germline	Chr4:25670834	Likely pathogenic	PULMONARY ALVEOLAR MICROLITHIASIS	Criteria Provided Single Submitter		rs_777320214	1 SubmittersRCV004760311
NM_006424.3(SLC34A2):c.635+5G>A	SNV Germline	Chr4:25667996	Conflicting classifications of pathogenicity	Condition: not provided PULMONARY ALVEOLAR MICROLITHIASIS	Criteria Provided Conflicting Classifications	CA2879523	rs_191211377	2 SubmittersRCV002907707 RCV005362906
NM_006424.3(SLC34A2):c.910A>T (p.Lys304Ter)	SNV Germline	Chr4:25670816	Pathogenic	PULMONARY ALVEOLAR MICROLITHIASIS	Criteria Provided Single Submitter			1 SubmittersRCV005229736