| | LOC126862060, LOC126862061 +3282 more | Copy number gain | See cases | |
| | LOC125048449, LOC125048450 +3277 more | Copy number gain | See cases | |
| | LOC130056651, LOC130056652 +1423 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130056392, LOC130056393 +1073 more | Copy number gain | See cases | |
| | IGHD5-18, IGHD5-24 +881 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 | |
| | | Copy number loss | See cases | |
| | LOC130056644, LOC130056645 +397 more | Copy number loss | Neurodevelopmental disorder | |
| | | Copy number loss | See cases | |
| | | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | IGHV1-46, IGHV1-58 +174 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130056686, LOC130056687 +156 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | BRF1, BTBD6 (A56T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (S63G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (P38S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (A99P +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (L105F +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (S112N +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (A147T +1 more) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | BRF1, BTBD6 (P130S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (S146R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | BRF1, BTBD6 (C175Y +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (R220W +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (E226D +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (E245K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | BRF1, BTBD6 (C313G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (N271K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (H274Y +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (R331Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (T340P +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (T287A +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (A297T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (R375C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (R375H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (L386F +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (A334T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | BRF1, BTBD6 (Q342P +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (G355R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (G355R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | BRF1, BTBD6 (R393Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (S464N +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (P468Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (W470C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (F429L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (T431M +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | BRF1, BTBD6 (V435I +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | BRF1, BTBD6 (C507Y +1 more) | Single nucleotide variant (intron variant +1 more) | not specified | |
| | BRF1, BTBD6 (S467G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BRF1, BTBD6 (A485V +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion | Herpes simplex encephalitis, susceptibility to, 3 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Focal segmental glomerulosclerosis 5 +1 more | |
| | | Duplication | Charcot-Marie-Tooth disease axonal type 2O +1 more | |
| | | Deletion | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Duplication | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Duplication | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |