| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | See cases | |
| | LINC02176, LOC101928392 +211 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Deficiency of malonyl-CoA decarboxylase +1 more | |
| | LOC126862422, MLYCD (T284A) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | LOC126862422, MLYCD (K309Q) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | LOC126862422, MLYCD (R310Q) | Single nucleotide variant (missense variant) | Deficiency of malonyl-CoA decarboxylase +1 more | GConflicting classifications of pathogenicity |
| | LOC126862422, MLYCD (R310P) | Single nucleotide variant (missense variant) | Deficiency of malonyl-CoA decarboxylase +1 more | |
| | LOC126862422, MLYCD (Q316*) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | Deficiency of malonyl-CoA decarboxylase +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
Click to view in NCBI Gene