Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_005506.3(SCARB2):c.1258delG (p.Glu420Argfs) | 950 | SCARB2 | Pathogenic | 727502782 | RCV000023184; | N | MedGen:C0751779,OMIM:254900,ORPHA:163696 | 4 | 77084518 | 77084518 | NM_005506.3:c.1258delG | NP_005497.1:p.Glu420Argfs | NC_000004.11:g.77084518delC | OMIM Allelic Variant:602257.0006 | C0751779 254900 Epilepsy, progressive myoclonic 4, with or without renal failure | | |
NM_005506.3(SCARB2):c.1239+1G>T | 950 | SCARB2 | Pathogenic | 727502772 | RCV000007801; | N | MedGen:C0751779,OMIM:254900,ORPHA:163696 | 4 | 77087402 | 77087402 | NM_005506.3:c.1239+1G>T | | NC_000004.11:g.77087402C>A | OMIM Allelic Variant:602257.0001 | C0751779 254900 Epilepsy, progressive myoclonic 4, with or without renal failure | | |
NM_005506.3(SCARB2):c.1187+2dupT | 950 | SCARB2 | Pathogenic | 727502783 | RCV000023185; | N | MedGen:C0751779,OMIM:254900,ORPHA:163696 | 4 | 77089554 | 77089554 | NM_005506.3:c.1187+2dupT | | NC_000004.11:g.77089554dupA | OMIM Allelic Variant:602257.0007 | C0751779 254900 Epilepsy, progressive myoclonic 4, with or without renal failure | | |
NM_005506.3(SCARB2):c.1114-2A>C | 950 | SCARB2 | Pathogenic | 727502781 | RCV000023183; | N | MedGen:C0751779,OMIM:254900,ORPHA:163696 | 4 | 77089631 | 77089631 | NM_005506.3:c.1114-2A>C | | NC_000004.11:g.77089631T>G | OMIM Allelic Variant:602257.0005 | C0751779 254900 Epilepsy, progressive myoclonic 4, with or without renal failure | | |
NM_005506.3(SCARB2):c.862C>T (p.Gln288Ter) | 950 | SCARB2 | Pathogenic | 121909118 | RCV000007803; | N | MedGen:C0751779,OMIM:254900,ORPHA:163696 | 4 | 77095429 | 77095429 | NM_005506.3:c.862C>T | NP_005497.1:p.Gln288Ter | NC_000004.11:g.77095429G>A | OMIM Allelic Variant:602257.0003 | C0751779 254900 Epilepsy, progressive myoclonic 4, with or without renal failure | | |
NM_005506.3(SCARB2):c.533G>A (p.Trp178Ter) | 950 | SCARB2 | Pathogenic | 121909119 | RCV000007804; | N | MedGen:C0751779,OMIM:254900,ORPHA:163696 | 4 | 77100749 | 77100749 | NM_005506.3:c.533G>A | NP_005497.1:p.Trp178Ter | NC_000004.11:g.77100749C>T | OMIM Allelic Variant:602257.0004 | C0751779 254900 Epilepsy, progressive myoclonic 4, with or without renal failure | | |
NM_005506.3(SCARB2):c.434_435dupAG (p.Trp146Serfs) | 950 | SCARB2 | Pathogenic | 727502773 | RCV000007802; RCV000188810; | N | MedGen:C0751779,OMIM:254900,ORPHA:163696; MedGen:CN221809 | 4 | 77100847 | 77100848 | NM_005506.3:c.434_435dupAG | NP_005497.1:p.Trp146Serfs | NC_000004.11:g.77100847_77100848dupCT | OMIM Allelic Variant:602257.0002 | C0751779 254900 Epilepsy, progressive myoclonic 4, with or without renal failure; CN221809 not provided | | |