Total 19 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		rs_1560265435	1 SubmittersRCV000007903
NM_004425.4(ECM1):c.1393-1G>T	SNV Germline	Chr1:150513236	Pathogenic	Lipid proteinosis	Criteria Provided Single Submitter		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		rs_756977475	2 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			2 SubmittersRCV003337853
NM_004425.4(ECM1):c.1051C>T (p.Gln351Ter)	SNV Germline	Chr1:150511799	Likely pathogenic	Lipid proteinosis	Criteria Provided Single Submitter			1 SubmittersRCV003988667