Total 28 pathogenic variants reported for Lipid proteinosis

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004425.4(ECM1):c.1036C>T (p.Gln346Ter)	SNV Germline	Chr1:150511784	Pathogenic	Lipid proteinosis	No Assertion Criteria Provided	CA118815	rs_121909114	1 SubmittersRCV000007898
NM_004425.4(ECM1):c.157C>T (p.Arg53Ter)	SNV Germline	Chr1:150509696	Pathogenic	Lipid proteinosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA118817	rs_121909115	5 SubmittersRCV000007901 RCV001310535
NM_004425.4(ECM1):c.499T>A (p.Phe167Ile)	SNV Germline	Chr1:150510989	Likely pathogenic	Lipid proteinosis	Criteria Provided Single Submitter	CA118819	rs_121909116	2 SubmittersRCV000007902
NM_004425.4(ECM1):c.480G>A (p.Trp160Ter)	SNV Germline	Chr1:150510970	Pathogenic	Lipid proteinosis	No Assertion Criteria Provided	CA342332965	rs_1560265435	1 SubmittersRCV000007903
NM_004425.4(ECM1):c.1393-1G>T	SNV Germline	Chr1:150513236	Pathogenic	Lipid proteinosis	Criteria Provided Single Submitter	CA342334946	rs_1560267428	1 SubmittersRCV000714805
NM_004425.4(ECM1):c.806G>A (p.Cys269Tyr)	SNV Germline	Chr1:150511554	Pathogenic/Likely pathogenic	Lipid proteinosis	Criteria Provided Multiple Submitters No Conflicts	CA1077557	rs_756977475	3 SubmittersRCV001554299
NM_004425.4(ECM1):c.1246C>T (p.Arg416Ter)	SNV Germline	Chr1:150512514	Pathogenic/Likely pathogenic	Lipid proteinosis	Criteria Provided Multiple Submitters No Conflicts	CA342334601	rs_762669789	2 SubmittersRCV003337853
NM_004425.4(ECM1):c.1051C>T (p.Gln351Ter)	SNV Germline	Chr1:150511799	Likely pathogenic	Lipid proteinosis	Criteria Provided Single Submitter	CA342334162	rs_2526412851	1 SubmittersRCV003988667
NM_004425.4(ECM1):c.1441C>T (p.Arg481Ter)	SNV Germline	Chr1:150513285	Pathogenic	Lipid proteinosis Condition: not provided	Criteria Provided Single Submitter			2 SubmittersRCV004818475 RCV006264317
NM_004425.4(ECM1):c.1305-2A>G	SNV Germline	Chr1:150512723	Pathogenic	Lipid proteinosis	No Assertion Criteria Provided			1 SubmittersRCV004818476
NM_004425.4(ECM1):c.709-2A>G	SNV Germline	Chr1:150511455	Pathogenic	Lipid proteinosis	No Assertion Criteria Provided			1 SubmittersRCV004818478
NM_004425.4(ECM1):c.1077G>A (p.Trp359Ter)	SNV Germline	Chr1:150511825	Pathogenic	Lipid proteinosis	Criteria Provided Single Submitter			1 SubmittersRCV005634181