| | BTBD2, LOC130063010 (P62Q) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | BTBD2, LOC130063009 (R131C) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | BTBD2, LOC130063010 (G84A) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant) | BTBD2-related disorder | |
| | | Microsatellite | BTBD2-related disorder | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | BTBD2, LOC130063010 (P101S) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD2, LOC130063010 (E91V) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD2, LOC130063010 (A85T) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | BTBD2, LOC130063010 (E79A) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD2, LOC130063010 (R90C) | Single nucleotide variant (missense variant) | not specified | |
| | ABHD17A, ADAMTSL5 +80 more | Duplication | not provided | |
| | C19orf25, CSNK1G2 +35 more | Duplication | Progressive myoclonic epilepsy type 9 +1 more | |
| | | Duplication | not provided | |
| | | Duplication | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | BTBD2, LOC130063010 (E91D) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | BTBD2, LOC130063010 (A81V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | ADAMTSL5, PLEKHJ1 +106 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Neurodevelopmental disorder | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Seizure +2 more | |
| | PGLYRP1, PGLYRP2 +1364 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | LOC130062978, LOC130062979 +903 more | Copy number gain | See cases | |
| | ABHD17A, ADAMTSL5 +219 more | Copy number gain | See cases | |
| | LOC130062818, LOC130062819 +332 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130063254, LOC130063255 +810 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130063041, LOC130063042 +687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |