| | BDNF, BDNF-AS (Y49C +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | not provided | |
| | BDNF, BDNF-AS (E110* +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | BDNF-related disorder | |
| | BDNF, BDNF-AS (N109S +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | BDNF-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | BDNF-related disorder | |
| | BDNF, BDNF-AS (G134S +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | BDNF-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | BDNF-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | BDNF-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | BDNF-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | BDNF-related disorder | |
| | | Single nucleotide variant (intron variant) | BDNF-related disorder | |
| | | Single nucleotide variant (synonymous variant) | BDNF-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | BDNF-related disorder | |
| | | Single nucleotide variant (synonymous variant) | BDNF-related disorder | |
| | | Single nucleotide variant (synonymous variant) | BDNF-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | BDNF-related disorder | |
| | BDNF, BDNF-AS (V66M +4 more) | Single nucleotide variant (non-coding transcript variant +3 more) | Post-traumatic stress disorder | |
| | BDNF, BDNF-AS (S140P +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | BDNF, BDNF-AS (W212fs +4 more) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | BDNF-related disorder +1 more | |
| | BDNF, BDNF-AS (I231V +4 more) | Single nucleotide variant (missense variant) | BDNF-related disorder | |
| | BDNF, BDNF-AS (V128M +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | BDNF-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | BDNF-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | BDNF-related disorder | |
| | BDNF, BDNF-AS (G113D +4 more) | Single nucleotide variant (missense variant) | BDNF-related disorder | |
| | BDNF, BDNF-AS (R120Q +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | BDNF-related disorder | |
| | | Duplication (frameshift variant +2 more) | BDNF-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | BDNF-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | BDNF-related disorder | |
| | BDNF, BDNF-AS (T10N +4 more) | Single nucleotide variant (missense variant) | BDNF-related disorder | |
| | BDNF, BDNF-AS (M220T +4 more) | Single nucleotide variant (missense variant) | BDNF-related disorder | |
| | BDNF, BDNF-AS (M122T +4 more) | Single nucleotide variant (missense variant) | BDNF-related disorder | |
| | BDNF, BDNF-AS (K105E +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | BDNF-related disorder | |
| | BDNF, BDNF-AS (Q157E +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | BDNF, BDNF-AS (A106T +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BDNF, BDNF-AS (T77A +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BDNF, BDNF-AS (T86K +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BDNF, BDNF-AS (L125P +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BDNF, BDNF-AS (R93Q +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BDNF, BDNF-AS (G55V +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BDNF, BDNF-AS (K17E +4 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | BDNF, BDNF-AS (M130I +4 more) | Single nucleotide variant (missense variant) | not provided | |
| | BDNF, BDNF-AS (F116Y +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | BDNF-related disorder +1 more | |
| | | Deletion (frameshift variant +2 more) | BDNF-related disorder | |
| | BDNF, BDNF-AS (V215M +4 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | BDNF-related disorder | |
| | | Deletion | Intellectual disability | |
| | BDNF, BDNF-AS (C186Y +4 more) | Single nucleotide variant (missense variant) | Obesity | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | BDNF-related disorder +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Obesity | |
| | BDNF, BDNF-AS (E168* +4 more) | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion (frameshift variant +2 more) | not specified | |
| | | Copy number gain | See cases | |
| | GAL3ST3, GALNT18 +1289 more | Copy number gain | See cases | |
| | MRGPRX3, MRGPRX4 +1289 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome | |
| | | Copy number loss | Aniridia 1 | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (no sequence alteration) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129390275, LOC129390276 +255 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | PAX6_HS3, PAX6_HS8 +334 more | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Variant of unknown significance | |
| | BDNF, BDNF-AS (V66M +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | BDNF-AS, BDNF (T2I +4 more) | Single nucleotide variant (missense variant) | BDNF-related disorder +3 more | GConflicting classifications of pathogenicity |