| | | Single nucleotide variant (nonsense) | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | |
| | | Deletion | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +2 more | |
| | | Single nucleotide variant (nonsense) | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Duplication (nonsense) | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Deletion (intron variant) | Colorectal cancer, susceptibility to, 12 +4 more | |
| | | Single nucleotide variant (intron variant) | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | POLE-related disorder +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Colorectal cancer, susceptibility to, 12 +5 more | |
| | | Single nucleotide variant (missense variant) | Colorectal cancer, susceptibility to, 12 +5 more | |
| | | Deletion (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Colorectal cancer, susceptibility to, 12 +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Colorectal cancer, susceptibility to, 12 +4 more | |
| | | Single nucleotide variant (missense variant) | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Colorectal cancer, susceptibility to, 12 +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +5 more | |
| | | Single nucleotide variant (intron variant) | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +5 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant) | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +5 more | |
| | | Single nucleotide variant (intron variant) | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (intron variant) | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more | |
| | | Single nucleotide variant (intron variant) | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | POLE-related disorder +4 more | |
| | | Single nucleotide variant (missense variant) | Colorectal cancer, susceptibility to, 12 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Microsatellite (inframe_deletion) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Colorectal cancer, susceptibility to, 12 +5 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant) | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant) | Colorectal cancer, susceptibility to, 12 +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |