| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 150326 | single nucleotide variant | NM_031229.3(RBCK1):c.553C>T (p.Gln185Ter) | 727503762 | MedGen:CN196923,OMIM:615895 | 20 | 419439 | 419439 | C | T |
| 150326 | single nucleotide variant | NM_031229.3(RBCK1):c.553C>T (p.Gln185Ter) | 727503762 | MedGen:CN196923,OMIM:615895 | 20 | 400083 | 400083 | C | T |
| 150327 | deletion | NM_031229.3(RBCK1):c.121_122delCT (p.Leu41Glufs) | 727503763 | MedGen:CN196923,OMIM:615895 | 20 | 390623 | 390624 | CT | - |
| 150327 | deletion | NM_031229.3(RBCK1):c.121_122delCT (p.Leu41Glufs) | 727503763 | MedGen:CN196923,OMIM:615895 | 20 | 409979 | 409980 | CT | - |
| 150328 | deletion | NM_031229.3(RBCK1):c.896_899delAGTG (p.Glu299Valfs) | 727503764 | MedGen:CN196923,OMIM:615895 | 20 | 401654 | 401657 | AGTG | - |
| 150328 | deletion | NM_031229.3(RBCK1):c.896_899delAGTG (p.Glu299Valfs) | 727503764 | MedGen:CN196923,OMIM:615895 | 20 | 421010 | 421013 | AGTG | - |
| 150329 | single nucleotide variant | NM_031229.3(RBCK1):c.1160A>G (p.Asn387Ser) | 566912235 | MedGen:CN196923,OMIM:615895 | 20 | 427443 | 427443 | A | G |
| 150329 | single nucleotide variant | NM_031229.3(RBCK1):c.1160A>G (p.Asn387Ser) | 566912235 | MedGen:CN196923,OMIM:615895 | 20 | 408087 | 408087 | A | G |
| 150330 | single nucleotide variant | NM_031229.3(RBCK1):c.727G>T (p.Glu243Ter) | 727503765 | MedGen:CN196923,OMIM:615895 | 20 | 400346 | 400346 | G | T |
| 150330 | single nucleotide variant | NM_031229.3(RBCK1):c.727G>T (p.Glu243Ter) | 727503765 | MedGen:CN196923,OMIM:615895 | 20 | 419702 | 419702 | G | T |
| 150331 | duplication | NM_031229.3(RBCK1):c.724_727dupGGCG (p.Glu243Glyfs) | 730880329 | MedGen:CN196923,OMIM:615895 | 20 | 400343 | 400346 | GGCG | GGCGGGCG |
| 150331 | duplication | NM_031229.3(RBCK1):c.724_727dupGGCG (p.Glu243Glyfs) | 730880329 | MedGen:CN196923,OMIM:615895 | 20 | 419699 | 419702 | GGCG | GGCGGGCG |
| 150332 | single nucleotide variant | NM_031229.3(RBCK1):c.790C>T (p.Gln264Ter) | 587777561 | MedGen:CN196923,OMIM:615895 | 20 | 401548 | 401548 | C | T |
| 150332 | single nucleotide variant | NM_031229.3(RBCK1):c.790C>T (p.Gln264Ter) | 587777561 | MedGen:CN196923,OMIM:615895 | 20 | 420904 | 420904 | C | T |
| 150333 | duplication | NM_031229.3(RBCK1):c.697_703dupGACGAGG (p.Glu235Glyfs) | 730880330 | MedGen:CN196923,OMIM:615895 | 20 | 400316 | 400322 | GACGAGG | GACGAGGGACGAGG |
| 150333 | duplication | NM_031229.3(RBCK1):c.697_703dupGACGAGG (p.Glu235Glyfs) | 730880330 | MedGen:CN196923,OMIM:615895 | 20 | 419672 | 419678 | GACGAGG | GACGAGGGACGAGG |