| | LINC02168, LINC02169 +675 more | Copy number gain | See cases | |
| | LOC130059466, LOC130059467 +1738 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059197, LOC130059198 +575 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC128772417, LOC128772418 +939 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059153, LOC130059154 +1426 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CARMIL2 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Indel (missense variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Dyskeratosis congenita, autosomal dominant 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | ACD-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal dominant 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Dyskeratosis congenita, autosomal dominant 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | ACD-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Dyskeratosis congenita, autosomal dominant 6 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal dominant 6 +2 more | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (splice donor variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal dominant 6 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Dyskeratosis congenita, autosomal dominant 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal dominant 6 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal dominant 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |