| | LOC126861920, LOC126861921 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130056672, LOC130056673 +1071 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | SNORD114-11, SNORD114-12 +754 more | Copy number loss | See cases | |
| | LOC130056455, LOC130056456 +670 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130056511, LOC130056512 +631 more | Copy number loss | See cases | |
| | LOC126862061, LOC126862062 +530 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130056610, LOC130056611 +416 more | Copy number loss | See cases | |
| | LOC105378183, LOC112163684 +164 more | Copy number loss | See cases | |
| | IGHV3-38, IGHV3-43 +397 more | Copy number loss | See cases | |
| | MIR4538, MIR4539 +397 more | Copy number loss | Neurodevelopmental disorder | |
| | | Deletion | Mitochondrial complex 4 deficiency, nuclear type 17 | |
| | | Copy number loss | See cases | |
| | C14orf180, CDC42BPB +367 more | 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) | Imerslund-Grasbeck syndrome type 2 +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 | |
| | | 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 | |