Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_018965.3(TREM2):c.558G>T (p.Lys186Asn) | 54209 | TREM2 | Pathogenic | 28937876 | RCV000005524; | N | MedGen:C1857316,OMIM:221770,ORPHA:2770 | 6 | 41126729 | 41126729 | NM_018965.3:c.558G>T | NP_061838.1:p.Lys186Asn | NC_000006.11:g.41126729C>A | OMIM Allelic Variant:605086.0002 | C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | |
NM_018965.3(TREM2):c.482+2T>C | 54209 | TREM2 | Likely pathogenic | 386834144 | RCV000050138; | N | MedGen:C1857316,OMIM:221770,ORPHA:2770 | 6 | 41127528 | 41127528 | NM_018965.3:c.482+2T>C | | NC_000006.11:g.41127528A>G | - | C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | |
NM_018965.3(TREM2):c.401A>G (p.Asp134Gly) | 54209 | TREM2 | Pathogenic | 28939079 | RCV000005525; | N | MedGen:C1857316,OMIM:221770,ORPHA:2770 | 6 | 41127611 | 41127611 | NM_018965.3:c.401A>G | NP_061838.1:p.Asp134Gly | NC_000006.11:g.41127611T>C | OMIM Allelic Variant:605086.0003 | C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | |
NM_018965.3(TREM2):c.377T>G (p.Val126Gly) | 54209 | TREM2 | Pathogenic | 121908402 | RCV000005528; | N | MedGen:C1857316,OMIM:221770,ORPHA:2770 | 6 | 41129015 | 41129015 | NM_018965.3:c.377T>G | NP_061838.1:p.Val126Gly | NC_000006.11:g.41129015A>C | OMIM Allelic Variant:605086.0006 | C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | |
NM_018965.3(TREM2):c.313delG (p.Ala105Argfs) | 54209 | TREM2 | Likely pathogenic | 386834141 | RCV000050135; | N | MedGen:C1857316,OMIM:221770,ORPHA:2770 | 6 | 41129079 | 41129079 | NM_018965.3:c.313delG | NP_061838.1:p.Ala105Argfs | NC_000006.11:g.41129079delC | - | C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | |
NM_018965.3(TREM2):c.269delG (p.Gly90Valfs) | 54209 | TREM2 | Likely pathogenic | 386834140 | RCV000050134; | N | MedGen:C1857316,OMIM:221770,ORPHA:2770 | 6 | 41129123 | 41129123 | NM_018965.3:c.269delG | NP_061838.1:p.Gly90Valfs | NC_000006.11:g.41129123delC | - | C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | |
NM_018965.3(TREM2):c.233G>A (p.Trp78Ter) | 54209 | TREM2 | Pathogenic | 104893998 | RCV000005523; | N | MedGen:C1857316,OMIM:221770,ORPHA:2770 | 6 | 41129159 | 41129159 | NM_018965.3:c.233G>A | NP_061838.1:p.Trp78Ter | NC_000006.11:g.41129159C>T | OMIM Allelic Variant:605086.0001 | C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | |
NM_018965.3(TREM2):c.197C>T (p.Thr66Met) | 54209 | TREM2 | Pathogenic | 201258663 | RCV000192213; | N | MedGen:C1857316,OMIM:221770,ORPHA:2770 | 6 | 41129195 | 41129195 | NM_018965.3:c.197C>T | NP_061838.1:p.Thr66Met | NC_000006.11:g.41129195G>A | - | C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | |
NM_018965.3(TREM2):c.132G>A (p.Trp44Ter) | 54209 | TREM2 | Pathogenic | 104894001 | RCV000005527; | N | MedGen:C1857316,OMIM:221770,ORPHA:2770 | 6 | 41129260 | 41129260 | NM_018965.3:c.132G>A | NP_061838.1:p.Trp44Ter | NC_000006.11:g.41129260C>T | OMIM Allelic Variant:605086.0005 | C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | |
NM_018965.3(TREM2):c.113A>G (p.Tyr38Cys) | 54209 | TREM2 | Pathogenic | 797044603 | RCV000192212; | N | MedGen:C1857316,OMIM:221770,ORPHA:2770 | 6 | 41129279 | 41129279 | NM_018965.3:c.113A>G | NP_061838.1:p.Tyr38Cys | NC_000006.11:g.41129279T>C | - | C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | |
NM_018965.3(TREM2):c.97C>T (p.Gln33Ter) | 54209 | TREM2 | Pathogenic | 104894002 | RCV000005529; | N | MedGen:C1857316,OMIM:221770,ORPHA:2770 | 6 | 41129295 | 41129295 | NM_018965.3:c.97C>T | NP_061838.1:p.Gln33Ter | NC_000006.11:g.41129295G>A | OMIM Allelic Variant:605086.0007 | C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | |
NM_018965.3(TREM2):c.40+3_40+5del | 54209 | TREM2 | Likely pathogenic;Pathogenic | 386834142 | RCV000050136; | N | MedGen:C1857316,OMIM:221770,ORPHA:2770 | 6 | 41130776 | 41130778 | NM_018965.3:c.40+3_40+5del | | NC_000006.11:g.41130776_41130778delCCT | - | C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | |
NM_018965.3(TREM2):c.40G>T (p.Glu14Ter) | 54209 | TREM2 | Likely pathogenic | 386834143 | RCV000050137; | N | MedGen:C1857316,OMIM:221770,ORPHA:2770 | 6 | 41130781 | 41130781 | NM_018965.3:c.40G>T | NP_061838.1:p.Glu14Ter | NC_000006.11:g.41130781C>A | - | C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | |
NM_003332.3(TYROBP):c.262G>T (p.Glu88Ter) | 7305 | TYROBP | Likely pathogenic | 386833842 | RCV000049810; | N | MedGen:C1857316,OMIM:221770,ORPHA:2770 | 19 | 36398134 | 36398134 | NM_003332.3:c.262G>T | NP_003323.1:p.Glu88Ter | NC_000019.9:g.36398134C>A | - | C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | |
NM_003332.3(TYROBP):c.145G>C (p.Gly49Arg) | 7305 | TYROBP | Likely pathogenic | 386833841 | RCV000049809; | N | MedGen:C1857316,OMIM:221770,ORPHA:2770 | 19 | 36398432 | 36398432 | NM_003332.3:c.145G>C | NP_003323.1:p.Gly49Arg | NC_000019.9:g.36398432C>G | - | C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | |
NM_003332.3(TYROBP):c.141delG (p.Met48Trpfs) | 7305 | TYROBP | Likely pathogenic;Pathogenic | 386833840 | RCV000049808; | N | MedGen:C1857316,OMIM:221770,ORPHA:2770 | 19 | 36398436 | 36398436 | NM_003332.3:c.141delG | NP_003323.1:p.Met48Trpfs | NC_000019.9:g.36398436delC | - | C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | |
NM_003332.3(TYROBP):c.116G>A (p.Ser39Asn) | 7305 | TYROBP | Likely pathogenic | 386833839 | RCV000049807; | N | MedGen:C1857316,OMIM:221770,ORPHA:2770 | 19 | 36398461 | 36398461 | NM_003332.3:c.116G>A | NP_003323.1:p.Ser39Asn | NC_000019.9:g.36398461C>T | - | C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | |
NM_003332.3(TYROBP):c.2T>C (p.Met1Thr) | 7305 | TYROBP | Pathogenic | 104894732 | RCV000006153; | N | MedGen:C1857316,OMIM:221770,ORPHA:2770 | 19 | 36399129 | 36399129 | NM_003332.3:c.2T>C | NP_003323.1:p.Met1Thr | NC_000019.9:g.36399129A>G | OMIM Allelic Variant:604142.0003 | C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | |