| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126807210, LOC126807211 +1102 more | Copy number gain | See cases | |
| | LOC126807213, LOC126807214 +1068 more | Copy number gain | See cases | |
| | LOC132089068, LOC132089069 +1051 more | Copy number gain | See cases | |
| | LOC126807202, LOC126807203 +1026 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | GAB1-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 26 | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication | Bilateral sensorineural hearing impairment | |
| | | 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 (synonymous variant) | GAB1-related disorder | |
| | GAB1, LOC126807172 (T199M) | Single nucleotide variant (missense variant) | not specified | |
| | GAB1, LOC126807172 (C213G) | Single nucleotide variant (missense variant) | not specified | |
| | GAB1, LOC126807172 (A252S) | Single nucleotide variant (missense variant) | not specified | |
| | GAB1, LOC126807172 (L270S) | Single nucleotide variant (missense variant) | not specified | |
| | GAB1, LOC126807172 (S277N) | Single nucleotide variant (missense variant) | not specified | |
| | GAB1, LOC126807172 (D281E) | Single nucleotide variant (missense variant) | not specified | |
| | GAB1, LOC126807172 (S294L) | Single nucleotide variant (missense variant) | not specified | |
| | GAB1, LOC126807172 (D339N) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | GAB1-related disorder | |
| | GAB1, LOC126807172 (A366V) | Single nucleotide variant (missense variant) | not specified | |
| | GAB1, LOC126807172 (S385G) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | GAB1-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (inframe_indel) | Autosomal recessive nonsyndromic hearing loss 26 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | GAB1-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | 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 (synonymous variant) | GAB1-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | GAB1-related disorder | |
| | FAM149A, FAM218A +197 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |