| | | Copy number gain | See cases | |
| | LOC130006424, LOC130006425 +305 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | Cerebral folate transport deficiency | |
| | | Single nucleotide variant | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | 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 (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (synonymous variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency +2 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (synonymous variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (synonymous variant) | Cerebral folate transport deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (inframe_insertion) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (synonymous variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (synonymous variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (synonymous variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (synonymous variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (synonymous variant) | Cerebral folate transport deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (intron variant) | Cerebral folate transport deficiency | |
| | | Deletion (intron variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (intron variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | 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) | not provided | |
| | | Single nucleotide variant (intron variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (intron variant) | Cerebral folate transport deficiency | |
| | | Deletion (intron variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (intron variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (intron variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (intron variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (intron variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (intron variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (intron variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (synonymous variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Deletion (frameshift variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (synonymous variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (synonymous variant) | Cerebral folate transport deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cerebral folate transport deficiency | |