Total 27 pathogenic variants reported for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter) SNV
Germline		 Chr6:41161421 Likely pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2		 Criteria Provided
Single Submitter
 CA340362 rs_104893998

3 SubmittersRCV000005523RCV000721925
NM_018965.4(TREM2):c.132G>A (p.Trp44Ter) SNV
Germline		 Chr6:41161522 Likely pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 Criteria Provided
Single Submitter
 CA253438 rs_104894001

2 SubmittersRCV000005527
NM_018965.4(TREM2):c.377T>G (p.Val126Gly) SNV
Germline		 Chr6:41161277 Pathogenic/Likely pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
TREM2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340365 rs_121908402

4 SubmittersRCV000005528RCV000721926RCV003398447
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter) SNV
Germline		 Chr6:41161557 Pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340368 rs_104894002

7 SubmittersRCV000005529RCV000721927RCV002512810RCV004018565
NM_003332.4(TYROBP):c.2T>C (p.Met1Thr) SNV
Germline		 Chr19:35908227 Pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 No Assertion Criteria Provided
 CA340459 rs_104894732

2 SubmittersRCV000006153
NM_003332.4(TYROBP):c.116G>A (p.Ser39Asn) SNV
Not provided		 Chr19:35907559 Likely pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 No Assertion Criteria Provided
 CA263863 rs_386833839

1 SubmittersRCV000049807
NM_003332.4(TYROBP):c.145G>C (p.Gly49Arg) SNV
Not provided		 Chr19:35907530 Likely pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 No Assertion Criteria Provided
 CA263866 rs_386833841

1 SubmittersRCV000049809
NM_003332.4(TYROBP):c.262G>T (p.Glu88Ter) SNV
Germline		 Chr19:35907232 Likely pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA263869 rs_386833842

2 SubmittersRCV000049810RCV001853051
NM_018965.4(TREM2):c.40G>T (p.Glu14Ter) SNV
Unknown		 Chr6:41163043 Pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2		 Criteria Provided
Single Submitter
 CA264197 rs_386834143

2 SubmittersRCV000050137RCV000993682
NM_018965.4(TREM2):c.482+2T>C SNV
Germline		 Chr6:41159790 Pathogenic/Likely pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2		 No Assertion Criteria Provided
 CA264200 rs_386834144

2 SubmittersRCV000050138RCV001810417
NM_018965.4(TREM2):c.197C>T (p.Thr66Met) SNV
Germline		 Chr6:41161457 Pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA347275 rs_201258663

2 SubmittersRCV000192213RCV001852102
NM_018965.4(TREM2):c.113A>G (p.Tyr38Cys) SNV
Germline		 Chr6:41161541 Pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA347272 rs_797044603

2 SubmittersRCV000192212RCV003556217
NM_018965.4(TREM2):c.259G>A (p.Asp87Asn) SNV
Germline		 Chr6:41161395 Conflicting classifications of pathogenicity not specified
Condition: not provided
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2		 Criteria Provided
Conflicting Classifications
 CA3798935 rs_142232675

8 SubmittersRCV000243611RCV000725660RCV001154720
NM_018965.4(TREM2):c.399G>T (p.Leu133=) SNV
Germline		 Chr6:41159875 Conflicting classifications of pathogenicity Condition: not provided
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
TREM2-related disorder		 Criteria Provided
Conflicting Classifications
 CA3798892 rs_144250872

7 SubmittersRCV000284005RCV000625433RCV001151686RCV003957514
NM_018965.4(TREM2):c.690G>A (p.Thr230=) SNV
Germline		 Chr6:41158767 Conflicting classifications of pathogenicity Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
Condition: not provided
TREM2-related disorder		 Criteria Provided
Conflicting Classifications
 CA3798803 rs_199795809

3 SubmittersRCV000405068RCV002058608RCV003912526
NM_018965.4(TREM2):c.393C>T (p.Asp131=) SNV
Germline		 Chr6:41159881 Conflicting classifications of pathogenicity Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3798894 rs_139607688

2 SubmittersRCV000397560RCV002524478
NM_018965.4(TREM2):c.40+13C>T SNV
Germline		 Chr6:41163030 Conflicting classifications of pathogenicity Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3799002 rs_145658858

2 SubmittersRCV000300134RCV002058609
NM_018965.4(TREM2):c.514C>T (p.Pro172Ser) SNV
Germline		 Chr6:41159035 Conflicting classifications of pathogenicity Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Condition: not provided
TREM2-related disorder		 Criteria Provided
Conflicting Classifications
 CA3798846 rs_781302866

4 SubmittersRCV000625432RCV001860459RCV003905673
NM_003332.4(TYROBP):c.46C>T (p.Leu16=) SNV
Germline		 Chr19:35908183 Conflicting classifications of pathogenicity Condition: not provided
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
TYROBP-related disorder		 Criteria Provided
Conflicting Classifications
 rs_147393700

6 SubmittersRCV000907954RCV001122155RCV003923107
NM_003332.4(TYROBP):c.111G>A (p.Thr37=) SNV
Germline		 Chr19:35907564 Conflicting classifications of pathogenicity Condition: not provided
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1		 Criteria Provided
Conflicting Classifications
 rs_200694727

2 SubmittersRCV000913097RCV001127915
NM_003332.4(TYROBP):c.180C>G (p.Ala60=) SNV
Germline		 Chr19:35907495 Conflicting classifications of pathogenicity Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_199583341

2 SubmittersRCV001127912RCV002070487
NM_018965.4(TREM2):c.40+1G>A SNV
Germline		 Chr6:41163042 Pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 Criteria Provided
Single Submitter

1 SubmittersRCV003334443