| | | Indel (nonsense +1 more) | Maple syrup urine disease | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Autosomal recessive nonsyndromic hearing loss 1A | |
| | | Deletion (frameshift variant) | Brain small vessel disease 1 with or without ocular anomalies | |
| | | Single nucleotide variant (nonsense) | Fanconi anemia complementation group A | |
| | | Deletion (frameshift variant) | Brugada syndrome | |
| | | Single nucleotide variant (nonsense) | Lynch syndrome | |
| | | Insertion (frameshift variant) | Usher syndrome type 1D | |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome | |
| | | Deletion (frameshift variant +1 more) | Gorlin syndrome | |
| | | Single nucleotide variant (nonsense) | Baller-Gerold syndrome | GPathogenic/Likely pathogenic |
| | | Insertion (frameshift variant) | Hereditary breast ovarian cancer syndrome | |
| | | Insertion (splice donor variant) | Lynch syndrome | |
| | | Insertion (frameshift variant) | Usher syndrome type 1D | |
| | | Deletion (frameshift variant) | Familial cancer of breast +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Tay-Sachs disease | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (T69fs) | Duplication (frameshift variant +1 more) | Inborn genetic diseases +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Usher syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Maple syrup urine disease | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (T75del) | Deletion (inframe_deletion +1 more) | Parkinson disease, late-onset +8 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Baller-Gerold syndrome | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bloom syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Tay-Sachs disease +1 more | |
| | | Single nucleotide variant (nonsense) | Nonsyndromic Deafness +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Nonsyndromic Deafness +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease, type IV | |
| | | Microsatellite (frameshift variant +1 more) | Isolated hyperchlorhidrosis | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Nonsyndromic Deafness | |
| | | Single nucleotide variant (missense variant) | Low renin, low aldosterone hypertension | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant nonsyndromic hearing loss 11 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | USH2A, USH2A-AS2 (S1849fs) | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | CDH1-related diffuse gastric and lobular breast cancer syndrome | |
| | | Deletion (frameshift variant) | Loeys-Dietz syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Usher syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary nonpolyposis colorectal neoplasms +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | BRIP1-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | CHEK2-related condition +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aplastic anemia +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Phenylketonuria | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer +8 more | GConflicting classifications of pathogenicity |