| | | Deletion (frameshift variant +1 more) | Revesz syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Revesz syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita +4 more | |
| | | Single nucleotide variant (missense variant) | Revesz syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Revesz syndrome +1 more | |
| | | Deletion (inframe_deletion) | Dyskeratosis congenita, autosomal dominant 3 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Revesz syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal dominant 3 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Revesz syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita +2 more | |
| | | Single nucleotide variant (synonymous variant) | Dyskeratosis congenita, autosomal dominant 3 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Revesz syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Revesz syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Revesz syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Revesz syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Revesz syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Revesz syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | TINF2, LOC130055403 (C27*) | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Dyskeratosis Congenita, Dominant +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Revesz syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Revesz syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dyskeratosis congenita, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Revesz syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dyskeratosis congenita, autosomal dominant 3 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Revesz syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dyskeratosis congenita, autosomal dominant 3 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dyskeratosis congenita, autosomal dominant 3 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Revesz syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dyskeratosis congenita, autosomal dominant 3 +1 more | |
| | LOC130055403, TINF2 (Q21R) | Single nucleotide variant (missense variant) | Dyskeratosis congenita +3 more | GConflicting classifications of pathogenicity |
| | LOC130055403, TINF2 (G25A) | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Revesz syndrome +3 more | |
| | | Deletion (intron variant) | Dyskeratosis Congenita, Dominant +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Revesz syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dyskeratosis Congenita, Dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal dominant 3 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | TINF2-related disorder +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dyskeratosis congenita, autosomal dominant 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dyskeratosis congenita, autosomal dominant 3 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Dyskeratosis congenita, autosomal dominant 3 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Revesz syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +5 more | |
| | TGM1, TINF2 (E281K +1 more) | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal dominant 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Revesz syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Deletion (frameshift variant) | Revesz syndrome | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal dominant 3 +4 more | |