| | CLDN14, CLDN14-AS1 (A215fs) | Deletion (frameshift variant) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | CLDN14, CLDN14-AS1 (A222fs) | Deletion (frameshift variant) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | CLDN14, CLDN14-AS1 (L175F) | Single nucleotide variant (missense variant) | not provided | |
| | CLDN14, CLDN14-AS1 (G122S) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | CLDN14, CLDN14-AS1 (V144M) | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 29 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | CLDN14, CLDN14-AS1 (P193L) | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 29 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (non-coding transcript variant) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | CLDN14, CLDN14-AS1 +1 more (V85D +1 more) | Single nucleotide variant (missense variant +1 more) | Perrault syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 29 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 29 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 29 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 29 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | CLDN14, CLDN14-AS1 (I126M) | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 29 +1 more | GConflicting classifications of pathogenicity |
| | CLDN14, CLDN14-AS1 (T179A) | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | CLDN14, CLDN14-AS1 (A196V) | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 29 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 29 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | CLDN14-AS1, CLDN14 (A163V) | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | CLDN14, CLDN14-AS1 (G232R) | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 29 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | CLDN14-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 29 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 29 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | CLDN14, CLDN14-AS1 (G101R) | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 29 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 29 | |
| | CLDN14, CLDN14-AS1 (M133fs) | Deletion (frameshift variant) | Autosomal recessive nonsyndromic hearing loss 29 | |