| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130064154, LOC130064155 +625 more | Copy number gain | See cases | |
| | LOC130064074, NDUFA13 (M1T) | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 28 | |
| | LOC130064074, NDUFA13 (K5N) | Single nucleotide variant (missense variant) | Hurthle cell carcinoma of thyroid | |
| | LOC130064074, NDUFA13 (V6A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130064074, NDUFA13 (Q8E) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130064074, NDUFA13 (M10V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130064074, NDUFA13 (M10T) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC130064074, NDUFA13 (M10I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130064074, NDUFA13 (M10I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130064074, NDUFA13 (P11T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130064074, NDUFA13 (P11L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130064074, NDUFA13 (Y16fs) | Duplication (frameshift variant) | Hurthle cell carcinoma of thyroid +1 more | |
| | LOC130064074, NDUFA13 (G14A) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC130064074, NDUFA13 (G15D) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC130064074, NDUFA13 (R23fs) | Deletion (frameshift variant) | not provided | |
| | LOC130064074, NDUFA13 (L25W) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130064074, NDUFA13 (S31A) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Hurthle cell carcinoma of thyroid +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC125371495, NDUFA13 (Y33C) | Single nucleotide variant (missense variant) | not provided | |
| | LOC125371495, NDUFA13 (L36P) | Single nucleotide variant (missense variant) | Lactic acidosis +5 more | |
| | LOC125371495, NDUFA13 (T42N) | Single nucleotide variant (missense variant) | not provided | |
| | LOC125371495, NDUFA13 (Y45C) | Single nucleotide variant (missense variant) | not provided | |
| | LOC125371495, NDUFA13 (W48C) | Single nucleotide variant (missense variant) | not provided | |
| | LOC125371495, NDUFA13 (R57H) | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 28 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Lactic acidosis +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 28 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (stop lost) | Mitochondrial complex 1 deficiency, nuclear type 28 | |
| | | Copy number loss | not specified | |
| | | Copy number gain | Specific learning disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | PGLYRP1, PGLYRP2 +1364 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Complex | Breast ductal adenocarcinoma | |