| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 16014 | single nucleotide variant | NM_032322.3(RNF135):c.727C>T (p.Gln243Ter) | 121918161 | MedGen:C3280095,OMIM:614192,Orphanet:ORPHA137634 | 17 | 29324307 | 29324307 | C | T |
| 16014 | single nucleotide variant | NM_032322.3(RNF135):c.727C>T (p.Gln243Ter) | 121918161 | MedGen:C3280095,OMIM:614192,Orphanet:ORPHA137634 | 17 | 30997289 | 30997289 | C | T |
| 16015 | deletion | NM_032322.3(RNF135):c.742delC (p.Leu248Serfs) | 724159977 | MedGen:C3280095,OMIM:614192,Orphanet:ORPHA137634 | 17 | 29324322 | 29324322 | C | - |
| 16015 | deletion | NM_032322.3(RNF135):c.742delC (p.Leu248Serfs) | 724159977 | MedGen:C3280095,OMIM:614192,Orphanet:ORPHA137634 | 17 | 30997304 | 30997304 | C | - |
| 16016 | deletion | NM_032322.3(RNF135):c.1015delG (p.Val339Serfs) | 724159978 | MedGen:C3280095,OMIM:614192,Orphanet:ORPHA137634 | 17 | 29325925 | 29325925 | G | - |
| 16016 | deletion | NM_032322.3(RNF135):c.1015delG (p.Val339Serfs) | 724159978 | MedGen:C3280095,OMIM:614192,Orphanet:ORPHA137634 | 17 | 30998907 | 30998907 | G | - |
| 16017 | single nucleotide variant | NM_032322.3(RNF135):c.857G>A (p.Arg286His) | 121918162 | MedGen:C3280095,OMIM:614192,Orphanet:ORPHA137634 | 17 | 29325767 | 29325767 | G | A |
| 16017 | single nucleotide variant | NM_032322.3(RNF135):c.857G>A (p.Arg286His) | 121918162 | MedGen:C3280095,OMIM:614192,Orphanet:ORPHA137634 | 17 | 30998749 | 30998749 | G | A |
| 162522 | copy number gain | GRCh38/hg38 17q11.2(chr17:30975560-31005259)x3 | -1 | - | 17 | 29302578 | 29332277 | na | na |
| 162522 | copy number gain | GRCh38/hg38 17q11.2(chr17:30975560-31005259)x3 | -1 | - | 17 | 30975560 | 31005259 | na | na |
| 162522 | copy number gain | GRCh38/hg38 17q11.2(chr17:30975560-31005259)x3 | -1 | - | 17 | 26326704 | 26356403 | na | na |
| 208391 | indel | NM_032322.3(RNF135):c.356_357delGCinsAA (p.Arg119Gln) | 797045917 | MedGen:CN169374 | 17 | 30971429 | 30971430 | GC | AA |
| 208391 | indel | NM_032322.3(RNF135):c.356_357delGCinsAA (p.Arg119Gln) | 797045917 | MedGen:CN169374 | 17 | 29298447 | 29298448 | GC | AA |
| 267966 | deletion | NM_032322.3(RNF135):c.901delC (p.Gln301Argfs) | 886042696 | MedGen:CN169374 | 17 | 29325811 | 29325811 | C | - |
| 267966 | deletion | NM_032322.3(RNF135):c.901delC (p.Gln301Argfs) | 886042696 | MedGen:CN169374 | 17 | 30998793 | 30998793 | C | - |