| | | Single nucleotide variant | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | Inborn genetic diseases | |
| | LOC130060311, TTC19 (A48E) | Single nucleotide variant (5 prime UTR variant +1 more) | 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 (5 prime UTR variant) | Inborn genetic diseases | |
| | NCOR1, TTC19 (L2223M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Insertion (frameshift variant) | Mitochondrial complex III deficiency nuclear type 2 | |
| | NCOR1, TTC19 (T2244M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | NCOR1, TTC19 (G2312R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NCOR1, TTC19 (S2246A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130060311, TTC19 (G31R) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant | Inborn genetic diseases | |
| | | Single nucleotide variant | Inborn genetic diseases | |
| | LOC130060310, TTC19 +1 more | Single nucleotide variant (5 prime UTR variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial complex III deficiency nuclear type 2 | |
| | | Copy number loss | not specified | |
| | ADORA2B, CCDC144A +11 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant | TTC19-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | TTC19-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Mitochondrial complex III deficiency nuclear type 2 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial complex III deficiency nuclear type 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Duplication (3 prime UTR variant) | not provided | |
| | NCOR1, TTC19 (T2140M +1 more) | Single nucleotide variant (missense variant) | NCOR1-related disorder | |
| | LOC130060311, TTC19 (C24Y) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | NCOR1, TTC19 (I2401T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Mitochondrial complex III deficiency nuclear type 2 | |
| | | Copy number loss | Mitochondrial complex III deficiency nuclear type 2 | |
| | | Single nucleotide variant (nonsense) | Mitochondrial disease | |
| | | Single nucleotide variant | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant) | Inborn genetic diseases | |
| | NCOR1, TTC19 (G2170R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Mitochondrial complex III deficiency nuclear type 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant | Inborn genetic diseases | |
| | | Single nucleotide variant | Inborn genetic diseases | |
| | NCOR1, TTC19 (A2258G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130060311, TTC19 (D81H) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | NCOR1, TTC19 (D2313E +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NCOR1, TTC19 (G2240R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130060310, TTC19 +1 more | Single nucleotide variant (5 prime UTR variant) | Inborn genetic diseases | |
| | | Single nucleotide variant | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | NCOR1, TTC19 (T2286I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant | Inborn genetic diseases | |
| | NCOR1, TTC19 (K2175R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | LOC130060310, TTC19 +1 more | Single nucleotide variant (5 prime UTR 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) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC130060311, TTC19 (W65S) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC130060311, TTC19 (F13C) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |