| | AASDHPPT, ABCG4 +1199 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | Pyruvate dehydrogenase E2 deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate dehydrogenase E2 deficiency | |
| | PIH1D2, DLAT (Q351H +11 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | DLAT, PIH1D2 (S371N +11 more) | Single nucleotide variant (missense variant +2 more) | Pyruvate dehydrogenase E2 deficiency | |
| | DLAT, PIH1D2 (A360V +12 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | DLAT, PIH1D2 (S516I +12 more) | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | DLAT, PIH1D2 (T382A +12 more) | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | DLAT, PIH1D2 (H389N +12 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | DLAT, PIH1D2 (I377V +12 more) | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | DLAT, PIH1D2 (G379E +12 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | DLAT, PIH1D2 (V387I +12 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | DLAT, PIH1D2 (T490A +12 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | DLAT, PIH1D2 (R408G +12 more) | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | DLAT, PIH1D2 (P450Q +12 more) | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | DLAT, PIH1D2 (E464K +12 more) | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate dehydrogenase E2 deficiency | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | DLAT-related disorder | |
| | | Single nucleotide variant (intron variant) | Pyruvate dehydrogenase E2 deficiency | |
| | | Deletion (intron variant) | Pyruvate dehydrogenase E2 deficiency | |
| | | Insertion (intron variant) | not provided | |
| | | Deletion (intron variant) | Pyruvate dehydrogenase E2 deficiency | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Pyruvate dehydrogenase E2 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pyruvate dehydrogenase E2 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | DLAT, PIH1D2 (L414S +12 more) | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | DLAT, PIH1D2 (F569S +12 more) | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | DLAT, PIH1D2 (F576L +12 more) | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E2 deficiency | GConflicting classifications of pathogenicity |
| | DLAT, PIH1D2 (I579V +12 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | DLAT, PIH1D2 (G450C +12 more) | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | DLAT, PIH1D2 (A487T +12 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | DLAT, PIH1D2 (D490G +12 more) | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | | Duplication (inframe_insertion +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Pyruvate dehydrogenase E2 deficiency +1 more | |
| | DLAT, PIH1D2 (V454E +12 more) | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | DLAT, PIH1D2 (V572F +12 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | DLAT, PIH1D2 (R467W +12 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | DLAT, PIH1D2 (V567L +12 more) | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | DLAT, PIH1D2 (M518V +12 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Deletion | Pheochromocytoma +3 more | |
| | | Deletion | Pheochromocytoma +3 more | |
| | | Duplication | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | MISSED ABORTION | |
| | | Duplication | Dilated cardiomyopathy 1II | |
| | | Copy number loss | not provided | |
| | | Deletion | Ataxia-telangiectasia syndrome | |
| | | Duplication | Paragangliomas 1 +3 more | |
| | | Deletion | Intellectual disability | |
| | | Duplication | Distal trisomy 11q | |
| | | Deletion | Pheochromocytoma +3 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | SLC37A4, SNORD26 +1289 more | Copy number gain | See cases | |