| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132090296, LOC132090297 +1422 more | Copy number gain | See cases | |
| | LOC130056647, LOC130056648 +1203 more | Copy number gain | See cases | |
| | LOC130056481, LOC130056482 +1072 more | Copy number gain | See cases | |
| | IGHD5-18, IGHD5-24 +881 more | Copy number gain | See cases | |
| | LOC130056359, LOC130056360 +663 more | Copy number gain | See cases | |
| | LOC130056380, LOC130056381 +755 more | Copy number loss | See cases | |
| | LOC130056535, LOC130056536 +671 more | Copy number gain | See cases | |
| | LOC130056672, LOC130056673 +667 more | Copy number loss | See cases | |
| | LOC130056604, LOC130056605 +654 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130056480, LOC130056481 +571 more | Copy number loss | See cases | |
| | IGHV1-46, IGHV1-58 +561 more | Copy number loss | See cases | |
| | MIR6765, MIR8071-1 +441 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC105378183, LOC112163684 +164 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130056644, LOC130056645 +397 more | Copy number loss | Neurodevelopmental disorder | |
| | | Deletion | Mitochondrial complex 4 deficiency, nuclear type 17 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Herpes simplex encephalitis, susceptibility to, 3 | |
| | LOC130056553, LOC130056554 +6 more | Deletion | Imerslund-Grasbeck syndrome | |
| | | Duplication | Herpes simplex encephalitis, susceptibility to, 3 | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Imerslund-Grasbeck syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (nonsense) | Imerslund-Grasbeck syndrome | |
| | | Deletion (frameshift variant) | Imerslund-Grasbeck syndrome type 2 | |
| | | Single nucleotide variant (missense variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (splice donor variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome | |
| | | Deletion (intron variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome | |
| | | Microsatellite (intron variant) | Imerslund-Grasbeck syndrome type 2 +1 more | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome type 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (missense variant) | Imerslund-Grasbeck syndrome | |
| | | Deletion (frameshift variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (missense variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (synonymous variant) | AMN-related disorder +2 more | |
| | | Deletion (frameshift variant) | Imerslund-Grasbeck syndrome | |
| | | Deletion (frameshift variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (missense variant) | Imerslund-Grasbeck syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Deletion (splice donor variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (missense variant) | Imerslund-Grasbeck syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (missense variant) | Cobalamin deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (synonymous variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome | |
| | | Single nucleotide variant (intron variant) | Imerslund-Grasbeck syndrome | |