| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 15526 | duplication | RNF168, 1-BP DUP, 397G | -1 | MedGen:C2677792,OMIM:611943,Orphanet:ORPHA420741 | na | -1 | -1 | na | na |
| 15527 | deletion | RNF168, 4-BP DEL, 1323ACAA | -1 | MedGen:C2677792,OMIM:611943,Orphanet:ORPHA420741 | na | -1 | -1 | na | na |
| 150469 | single nucleotide variant | NM_152617.3(RNF168):c.391C>T (p.Arg131Ter) | 201915239 | MedGen:C2677792,OMIM:611943,Orphanet:ORPHA420741 | 3 | 196214437 | 196214437 | G | A |
| 150469 | single nucleotide variant | NM_152617.3(RNF168):c.391C>T (p.Arg131Ter) | 201915239 | MedGen:C2677792,OMIM:611943,Orphanet:ORPHA420741 | 3 | 196487566 | 196487566 | G | A |
| 215279 | single nucleotide variant | NM_152617.3(RNF168):c.508G>A (p.Glu170Lys) | 114025031 | MedGen:CN169374 | 3 | 196214320 | 196214320 | C | T |
| 215279 | single nucleotide variant | NM_152617.3(RNF168):c.508G>A (p.Glu170Lys) | 114025031 | MedGen:CN169374 | 3 | 196487449 | 196487449 | C | T |
| 268399 | single nucleotide variant | NM_152617.3(RNF168):c.383C>T (p.Ala128Val) | 143373143 | MedGen:CN169374 | 3 | 196214445 | 196214445 | G | A |
| 268399 | single nucleotide variant | NM_152617.3(RNF168):c.383C>T (p.Ala128Val) | 143373143 | MedGen:CN169374 | 3 | 196487574 | 196487574 | G | A |
| 268400 | single nucleotide variant | NM_152617.3(RNF168):c.1237G>A (p.Glu413Lys) | 6790173 | MedGen:CN169374 | 3 | 196199169 | 196199169 | C | T |
| 268400 | single nucleotide variant | NM_152617.3(RNF168):c.1237G>A (p.Glu413Lys) | 6790173 | MedGen:CN169374 | 3 | 196472298 | 196472298 | C | T |