Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001001486.1(ATP2C1):c.910G>A (p.Ala304Thr) | 27032 | ATP2C1 | Pathogenic | 137853012 | RCV000005924; | N | MedGen:C0085106,OMIM:169600,ORPHA:2841,SNOMED CT:79468000 | 3 | 130682825 | 130682825 | NM_001001486.1:c.910G>A | NP_001001486.1:p.Ala304Thr | NC_000003.11:g.130682825G>A | OMIM Allelic Variant:604384.0002 | C0085106 169600 Familial benign pemphigus | | |
NM_001001486.1(ATP2C1):c.1402C>T (p.Arg468Ter) | 27032 | ATP2C1 | Pathogenic | 137853013 | RCV000005925; | N | MedGen:C0085106,OMIM:169600,ORPHA:2841,SNOMED CT:79468000 | 3 | 130688229 | 130688229 | NM_001001486.1:c.1402C>T | NP_001001486.1:p.Arg468Ter | NC_000003.11:g.130688229C>T | OMIM Allelic Variant:604384.0003 | C0085106 169600 Familial benign pemphigus | | |
NM_001001486.1(ATP2C1):c.1469G>T (p.Cys490Phe) | 27032 | ATP2C1 | Pathogenic | 137853014 | RCV000005928; | N | MedGen:C0085106,OMIM:169600,ORPHA:2841,SNOMED CT:79468000 | 3 | 130694231 | 130694231 | NM_001001486.1:c.1469G>T | NP_001001486.1:p.Cys490Phe | NC_000003.11:g.130694231G>T | OMIM Allelic Variant:604384.0006 | C0085106 169600 Familial benign pemphigus | | |
NM_001001486.1(ATP2C1):c.1751T>C (p.Leu584Pro) | 27032 | ATP2C1 | Pathogenic | 137853015 | RCV000005930; | N | MedGen:C0085106,OMIM:169600,ORPHA:2841,SNOMED CT:79468000 | 3 | 130699435 | 130699435 | NM_001001486.1:c.1751T>C | NP_001001486.1:p.Leu584Pro | NC_000003.11:g.130699435T>C | OMIM Allelic Variant:604384.0008 | C0085106 169600 Familial benign pemphigus | | |