| | LOC130005128, LOC130005129 +723 more | Copy number gain | See cases | |
| | LOC130005114, LOC130005115 +204 more | Copy number gain | See cases | |
| | LOC111718490, LOC112067719 +388 more | Copy number gain | See cases | |
| | LOC130005104, LOC130005105 +271 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Autism spectrum disorder | |
| | | Copy number gain | See cases | |
| | BGLT3, A-GAMMA3'E +328 more | Deletion | Thalassemia, gamma-delta-beta | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | EPS8L2-related disorder | |
| | | 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 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Hearing loss, autosomal recessive 106 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Insertion (frameshift variant) | Hearing loss, autosomal recessive 106 | |
| | | Single nucleotide variant (nonsense) | Hearing loss, autosomal recessive 106 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hearing loss, autosomal recessive 106 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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 provided | |
| | | Single nucleotide variant (missense variant) | EPS8L2-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal recessive 106 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | EPS8L2-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hearing loss, autosomal recessive 106 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (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 (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | EPS8L2, LOC130005076 (H154Y) | Single nucleotide variant (missense variant) | Hearing loss, autosomal recessive 106 | |
| | EPS8L2, LOC130005076 (D156N) | Single nucleotide variant (missense variant) | not specified | |
| | EPS8L2, LOC130005076 (E159K) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | EPS8L2-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 (intron variant) | not provided | |
| | EPS8L2, LOC130005076 (E165*) | Single nucleotide variant (nonsense) | not provided | |
| | LOC130005076, EPS8L2 (S169N) | Single nucleotide variant (missense variant) | not provided | |
| | EPS8L2, LOC130005076 (S169R) | Single nucleotide variant (missense variant) | not specified | |
| | EPS8L2, LOC130005076 (R175W) | Single nucleotide variant (missense variant) | not specified | |
| | EPS8L2, LOC130005076 (K178fs) | Duplication (frameshift variant) | not provided | |
| | EPS8L2, LOC130005076 (K178R) | Single nucleotide variant (missense variant) | not provided | |
| | EPS8L2, LOC130005076 (M180I) | Single nucleotide variant (missense variant) | not specified | |
| | EPS8L2, LOC130005076 (Q183H) | Single nucleotide variant (missense variant) | not specified | |
| | EPS8L2, LOC130005076 (T184A) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | EPS8L2, LOC130005078 (S197P) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EPS8L2, LOC130005078 (A206S) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | EPS8L2, LOC130005078 (P207S) | Single nucleotide variant (missense variant) | not provided | |
| | EPS8L2, LOC130005078 (G214S) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | EPS8L2, LOC130005078 (G214D) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EPS8L2, LOC130005078 (R223H) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | EPS8L2-related disorder | |
| | EPS8L2, LOC130005078 (P229S) | Single nucleotide variant (missense variant) | not specified | |