| | | Copy number gain | See cases | |
| | LOC613266, MACROD2 +950 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Obesity and hypopigmentation | |
| | | 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 (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (nonsense) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (intron variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (intron variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (intron variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | AHCY-related disorder | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (intron variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (intron variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (intron variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase +1 more | |
| | | Single nucleotide variant (intron variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (intron variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (intron variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | 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) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (missense variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| | | Single nucleotide variant (synonymous variant) | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |