| | LOC126860819, LOC126860820 +680 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Imerslund-Grasbeck syndrome type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Imerslund-Grasbeck syndrome type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Imerslund-Grasbeck syndrome type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Imerslund-Grasbeck syndrome type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Imerslund-Grasbeck syndrome +1 more | GConflicting classifications of pathogenicity |
| | | 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) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Insertion (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 | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome type 1 +2 more | |
| | | 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) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Imerslund-Grasbeck syndrome type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | 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 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Imerslund-Grasbeck syndrome type 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Imerslund-Grasbeck syndrome type 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome +1 more | |
| | | 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 (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Imerslund-Grasbeck syndrome type 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Imerslund-Grasbeck syndrome type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Imerslund-Grasbeck syndrome type 1 +2 more | |
| | | Deletion (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Imerslund-Grasbeck syndrome +2 more | |
| | | 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 (synonymous variant) | Imerslund-Grasbeck syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome +1 more | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Imerslund-Grasbeck syndrome type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | 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 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Imerslund-Grasbeck syndrome type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Imerslund-Grasbeck syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (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) | not provided | |
| | | Single nucleotide variant (missense variant) | Imerslund-Grasbeck syndrome type 1 +2 more | |