| | LOC129993082, LOC129993083 +661 more | Copy number gain | See cases | |
| | LOC129993132, LOC129993133 +420 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | IL21-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Deletion (stop lost +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | IL21-related infantile inflammatory bowel disease +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | IL21, IL21-AS1 +1 more (E59Q) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126807147, IL21 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126807147, IL21 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126807147, IL21-AS1 +1 more (L49P) | Single nucleotide variant (missense variant) | IL21-related infantile inflammatory bowel disease | |
| | IL21, IL21-AS1 +1 more (I45T) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | IL21, IL21-AS1 +1 more (D44N) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | IL21, IL21-AS1 +1 more (I43T) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | IL21, IL21-AS1 +1 more (I43L) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | IL21, IL21-AS1 +1 more (R40H) | Single nucleotide variant (non-coding transcript variant +1 more) | IL21-related infantile inflammatory bowel disease +1 more | |
| | IL21, IL21-AS1 +1 more (R40C) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | IL21, IL21-AS1 +1 more (R40G) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | IL21, IL21-AS1 +1 more (M39I) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | IL21, IL21-AS1 +1 more (R34C) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | IL21, IL21-AS1 +1 more (G31D) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | IL21, IL21-AS1 +1 more (S28N) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | IL21, IL21-AS1 +1 more (I18T) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | IL21, IL21-AS1 +1 more (I18V) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | IL21, IL21-AS1 +1 more (M16T) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | IL21, IL21-AS1 +1 more (I13V) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | IL21, IL21-AS1 +1 more (G6R) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | IL21, IL21-AS1 +1 more (M1T) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | |