Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_194442.2(LBR):c.1748G>A (p.Arg583Gln) | 3930 | LBR | Pathogenic | 587777172 | RCV000087264; | N | MedGen:C1300226,OMIM:215140,ORPHA:1426,SNOMED CT:389261002 | 1 | 225591105 | 225591105 | NM_194442.2:c.1748G>A | NP_919424.1:p.Arg583Gln | NC_000001.10:g.225591105C>T | OMIM Allelic Variant:600024.0009 | C1300226 215140 Greenberg dysplasia | | |
NM_194442.2(LBR):c.1639A>G (p.Asn547Asp) | 3930 | LBR | Pathogenic | 587777171 | RCV000087263; | N | MedGen:C1300226,OMIM:215140,ORPHA:1426,SNOMED CT:389261002 | 1 | 225592154 | 225592154 | NM_194442.2:c.1639A>G | NP_919424.1:p.Asn547Asp | 1:g.225592154T>C | OMIM Allelic Variant:600024.0008 | C1300226 215140 Greenberg dysplasia | | |
NM_194442.2(LBR):c.1599_1605delTCTTCTAinsCTAGAAG (p.Leu534Ter) | 3930 | LBR | Pathogenic | 387906416 | RCV000087262; RCV000010137; | N | MedGen:C0030779,OMIM:169400,SNOMED CT:85559002; MedGen:C1300226,OMIM:215140,ORPHA:1426,SNOMED CT:389261002 | 1 | 225592188 | 225592194 | NM_194442.2:c.1599_1605delTCTTCTAinsCTAGAAG | NP_919424.1:p.Leu534Ter | NC_000001.10:g.225592188_225592194delTAGAAGAinsCTTCTAG | OMIM Allelic Variant:600024.0003 | C1300226 215140 Greenberg dysplasia; C0030779 169400 Pelger-Huët anomaly | | |
NM_194442.2(LBR):c.32_35delTGGT (p.Val11Glufs) | 3930 | LBR | Pathogenic | 863223326 | RCV000087266; RCV000087265; | N | MedGen:C0030779,OMIM:169400,SNOMED CT:85559002; MedGen:C1300226,OMIM:215140,ORPHA:1426,SNOMED CT:389261002 | 1 | 225611743 | 225611746 | NM_194442.2:c.32_35delTGGT | NP_919424.1:p.Val11Glufs | NC_000001.10:g.225611743_225611746delACCA | OMIM Allelic Variant:600024.0010 | C1300226 215140 Greenberg dysplasia; C0030779 169400 Pelger-Huët anomaly | | |