| | LOC130065401, LOC130065402 +348 more | Copy number gain | See cases | |
| | ANGPT4, C20orf202 +76 more | Copy number loss | See cases | |
| | ANGPT4, C20orf202 +76 more | Copy number loss | See cases | |
| | LOC130065344, LOC130065345 +455 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANGPT4, C20orf202 +103 more | Copy number loss | See cases | |
| | LOC112694699, LOC112694712 +306 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC114004355, LOC116286198 +347 more | Copy number gain | See cases | |
| | | Copy number gain | Renal agenesis | |
| | ANGPT4, C20orf202 +104 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ANGPT4, C20orf202 +76 more | Copy number gain | See cases | |
| | LOC105372493, LOC105372524 +579 more | Copy number gain | See cases | |
| | ANGPT4, C20orf202 +102 more | Copy number loss | See cases | |
| | LOC129391148, LOC129391149 +110 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863004, LOC126863005 +814 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANGPT4, C20orf202 +87 more | Copy number loss | See cases | |
| | ANGPT4, C20orf202 +104 more | Copy number loss | See cases | |
| | LOC130065884, LOC130065885 +2522 more | Copy number gain | See cases | |
| | ANGPT4, C20orf202 +120 more | Copy number loss | See cases | |
| | ANGPT4, C20orf202 +100 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CSNK2A1, LOC121852996 +17 more | Copy number loss | Delayed speech and language development +4 more | |
| | | Single nucleotide variant | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Duplication | Brown-Vialetto-van Laere syndrome 1 | |
| | | Deletion | Brown-Vialetto-van Laere syndrome 1 | |
| | | Deletion (3 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Insertion (inframe_insertion) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Duplication (inframe_insertion) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Deletion (inframe_deletion) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | SLC52A3-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Indel (inframe_insertion) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |