| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 19/22 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant) | CFHR5 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Variant of unknown significance | |
| | LOC107546745, NID1 (Q388*) | Single nucleotide variant (nonsense) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant +1 more) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant +1 more) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant) | Variant of unknown significance | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Variant of unknown significance +1 more | |
| | PCDHA2, PCDHA3
+2 more (S584P) | Single nucleotide variant (missense variant +1 more) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Variant of unknown significance | |
| | | Deletion (nonsense) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant +2 more) | Variant of unknown significance | |
| | ILK, TAF10 (A262V +2 more) | Single nucleotide variant (missense variant +1 more) | Variant of unknown significance | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Pseudohypoaldosteronism type 2C +2 more | |
| | | Single nucleotide variant (missense variant) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant) | Developmental disorder | |
| | | Deletion (5 prime UTR variant +1 more) | Variant of unknown significance | |
| | LOC125146393, NAGPA (F513fs) | Deletion (frameshift variant) | Variant of unknown significance | |
| | | Insertion (inframe_indel) | Variant of unknown significance | |
| | | Single nucleotide variant (intron variant) | Variant of unknown significance | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 77 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | THBD-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | Variant of unknown significance | |
| | | Single nucleotide variant | Mitochondrial disease +7 more | GConflicting classifications of pathogenicity |
| | | Microsatellite | Variant of unknown significance | |