| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 94425 | single nucleotide variant | NM_205768.2(ZBTB18):c.397G>T (p.Glu133Ter) | 398122406 | Gene:100190984,MedGen:C2676727,OMIM:612337 | 1 | 244217473 | 244217473 | G | T |
| 94425 | single nucleotide variant | NM_205768.2(ZBTB18):c.397G>T (p.Glu133Ter) | 398122406 | Gene:100190984,MedGen:C2676727,OMIM:612337 | 1 | 244054171 | 244054171 | G | T |
| 205220 | single nucleotide variant | NM_205768.2(ZBTB18):c.1382A>G (p.Asn461Ser) | 797044885 | MeSH:D030342,MedGen:C0950123 | 1 | 244218458 | 244218458 | A | G |
| 205220 | single nucleotide variant | NM_205768.2(ZBTB18):c.1382A>G (p.Asn461Ser) | 797044885 | MeSH:D030342,MedGen:C0950123 | 1 | 244055156 | 244055156 | A | G |
| 225855 | single nucleotide variant | NM_205768.2(ZBTB18):c.160T>C (p.Cys54Arg) | 869312689 | Gene:100190984,MedGen:C2676727,OMIM:612337 | 1 | 244053934 | 244053934 | T | C |
| 225855 | single nucleotide variant | NM_205768.2(ZBTB18):c.160T>C (p.Cys54Arg) | 869312689 | Gene:100190984,MedGen:C2676727,OMIM:612337 | 1 | 244217236 | 244217236 | T | C |
| 227704 | deletion | NM_205768.2(ZBTB18):c.1118delG (p.Ser373Thrfs) | 875989785 | MeSH:D030342,MedGen:C0950123 | 1 | 244218194 | 244218194 | G | - |
| 227704 | deletion | NM_205768.2(ZBTB18):c.1118delG (p.Ser373Thrfs) | 875989785 | MeSH:D030342,MedGen:C0950123 | 1 | 244054892 | 244054892 | G | - |
| 227705 | single nucleotide variant | NM_205768.2(ZBTB18):c.1183C>T (p.Gln395Ter) | 875989786 | MeSH:D030342,MedGen:C0950123 | 1 | 244218259 | 244218259 | C | T |
| 227705 | single nucleotide variant | NM_205768.2(ZBTB18):c.1183C>T (p.Gln395Ter) | 875989786 | MeSH:D030342,MedGen:C0950123 | 1 | 244054957 | 244054957 | C | T |
| 248363 | copy number gain | NC_000001.10:g.(?_244138107)_(244509450_?)dup | -1 | - | 1 | 244138107 | 244509450 | na | na |