| | | Deletion (frameshift variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | IL21R, IL21R-AS1 (Q536R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (missense variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Deletion (frameshift variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | IL21R, IL21R-AS1 +1 more (P510S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Deletion (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | IL21R, IL21R-AS1 (P349L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (missense variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | IL21R, IL21R-AS1 (L442R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | IL21R, IL21R-AS1 +1 more (D344H +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (missense variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | IL21R, IL21R-AS1 (F351S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | IL21R, IL21R-AS1 (V338A +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | IL21R, IL21R-AS1 (S553L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Deletion (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (missense variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (missense variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (missense variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (missense variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | IL21R, IL21R-AS1 +1 more (R328K +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (missense variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (missense variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | IL21R, IL21R-AS1 +1 more (L329V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (missense variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (missense variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | IL21R, IL21R-AS1 (S324G +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Duplication (frameshift variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (missense variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | IL21R, IL21R-AS1 (S466G +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (missense variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | IL21R, IL21R-AS1 (G359V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (nonsense) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | IL21R, IL21R-AS1 (G429V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | LOC130058712, IL21R +1 more (L356P +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | IL21R, IL21R-AS1 +1 more (D510G +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | IL21R, IL21R-AS1 (G381R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (missense variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | IL21R, IL21R-AS1 +1 more (D455H +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | IL21R, IL21R-AS1 (V316fs +1 more) | Deletion (non-coding transcript variant +1 more) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| | | Single nucleotide variant (intron variant) | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |