| | LINC02811, LITATS1 +1147 more | Copy number gain | See cases | |
| | A3GALT2, ACOT11 +1226 more | Inversion | Bilateral polymicrogyria | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Autosomal recessive nonsyndromic hearing loss 1A | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Erythrokeratodermia variabilis et progressiva 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | GJB3-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 2B | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | GJB3-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Erythrokeratodermia variabilis et progressiva 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 1A +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 2B +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 2B +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |