Disease associated variation - ClinVar |
Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
59388 | single nucleotide variant | NM_183415.2(UBE3B):c.1741+2T>C | 398123020 | MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 | 12 | 109947521 | 109947521 | T | C |
59388 | single nucleotide variant | NM_183415.2(UBE3B):c.1741+2T>C | 398123020 | MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 | 12 | 109509716 | 109509716 | T | C |
59389 | deletion | NM_130466.3(UBE3B):c.2223_2224delAG (p.Arg741Serfs) | 398123021 | MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 | 12 | 109959099 | 109959100 | AG | - |
59389 | deletion | NM_130466.3(UBE3B):c.2223_2224delAG (p.Arg741Serfs) | 398123021 | MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 | 12 | 109521294 | 109521295 | AG | - |
59390 | single nucleotide variant | NM_130466.3(UBE3B):c.545-2A>G | 398123022 | MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 | 12 | 109927722 | 109927722 | A | G |
59390 | single nucleotide variant | NM_130466.3(UBE3B):c.545-2A>G | 398123022 | MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 | 12 | 109489917 | 109489917 | A | G |
59391 | single nucleotide variant | NM_130466.3(UBE3B):c.2180A>C (p.Gln727Pro) | 398123023 | MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 | 12 | 109959056 | 109959056 | A | C |
59391 | single nucleotide variant | NM_130466.3(UBE3B):c.2180A>C (p.Gln727Pro) | 398123023 | MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 | 12 | 109521251 | 109521251 | A | C |
166442 | single nucleotide variant | NM_130466.3(UBE3B):c.1A>G (p.Met1Val) | 672601304 | MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 | 12 | 109483552 | 109483552 | A | G |
166442 | single nucleotide variant | NM_130466.3(UBE3B):c.1A>G (p.Met1Val) | 672601304 | MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 | 12 | 109921357 | 109921357 | A | G |
166443 | deletion | NM_130466.3(UBE3B):c.1773delC (p.Gln592Serfs) | 672601305 | MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 | 12 | 109510375 | 109510375 | C | - |
166443 | deletion | NM_130466.3(UBE3B):c.1773delC (p.Gln592Serfs) | 672601305 | MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 | 12 | 109948180 | 109948180 | C | - |
189083 | deletion | NM_130466.3(UBE3B):c.1689_1691delCTC (p.Ser565del) | 786205621 | MedGen:CN221809 | 12 | 109947467 | 109947469 | CTC | - |
189083 | deletion | NM_130466.3(UBE3B):c.1689_1691delCTC (p.Ser565del) | 786205621 | MedGen:CN221809 | 12 | 109509662 | 109509664 | CTC | - |
205272 | single nucleotide variant | NM_130466.3(UBE3B):c.2990G>C (p.Arg997Pro) | 539407162 | MeSH:D030342,MedGen:C0950123 | 12 | 109971338 | 109971338 | G | C |
205272 | single nucleotide variant | NM_130466.3(UBE3B):c.2990G>C (p.Arg997Pro) | 539407162 | MeSH:D030342,MedGen:C0950123 | 12 | 109533533 | 109533533 | G | C |
215441 | single nucleotide variant | NM_130466.3(UBE3B):c.447+5C>A | 185361641 | MedGen:CN169374 | 12 | 109924385 | 109924385 | C | A |
215441 | single nucleotide variant | NM_130466.3(UBE3B):c.447+5C>A | 185361641 | MedGen:CN169374 | 12 | 109486580 | 109486580 | C | A |
226931 | single nucleotide variant | NM_130466.3(UBE3B):c.61G>T (p.Glu21Ter) | 775981553 | MeSH:D030342,MedGen:C0950123 | 12 | 109483612 | 109483612 | G | T |
226931 | single nucleotide variant | NM_130466.3(UBE3B):c.61G>T (p.Glu21Ter) | 775981553 | MeSH:D030342,MedGen:C0950123 | 12 | 109921417 | 109921417 | G | T |
264457 | deletion | NM_130466.3(UBE3B):c.256delC (p.Leu86Tyrfs) | 886041887 | MedGen:CN221809 | 12 | 109921760 | 109921760 | C | - |
264457 | deletion | NM_130466.3(UBE3B):c.256delC (p.Leu86Tyrfs) | 886041887 | MedGen:CN221809 | 12 | 109483955 | 109483955 | C | - |
264495 | single nucleotide variant | NM_130466.3(UBE3B):c.941-1G>A | 886041886 | MedGen:CN221809 | 12 | 109937437 | 109937437 | G | A |
264495 | single nucleotide variant | NM_130466.3(UBE3B):c.941-1G>A | 886041886 | MedGen:CN221809 | 12 | 109499632 | 109499632 | G | A |