| | LOC123493236, LOC123493237 +1310 more | Copy number gain | See cases | |
| | LOC132089056, LOC132089057 +1245 more | Copy number gain | See cases | |
| | LOC126807228, LOC126807229 +1102 more | Copy number gain | See cases | |
| | LOC129993256, LOC129993257 +1068 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC123493226, RXFP1 +3 more | Deletion | Megacolon | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Microsatellite (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple acyl-CoA dehydrogenase deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Multiple acyl-CoA dehydrogenase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Multiple acyl-CoA dehydrogenase deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | 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) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Duplication | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Duplication | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Deletion (frameshift variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion (frameshift variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Duplication (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Deletion (nonsense +1 more) | Multiple acyl-CoA dehydrogenase deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Indel (frameshift variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (intron variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Multiple acyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | ETFDH-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant +1 more) | Multiple acyl-CoA dehydrogenase deficiency | |