| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Autosomal recessive nonsyndromic hearing loss 16 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | CATSPER2, LOC130056948 +2 more | Deletion | Autosomal recessive nonsyndromic hearing loss 16 | |
| | CATSPER2, LOC130056948 +2 more | Deletion | Preeclampsia +1 more | |
| | CATSPER2, LOC130056948 +1 more | Copy number loss | See cases | |
| | CATSPER2, LOC130056948 +1 more | Copy number gain | See cases | |
| | CATSPER2, LOC130056948 +1 more | Copy number loss | See cases | |
| | CATSPER2, LOC130056948 +1 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CATSPER2, LOC130056948 +1 more | Copy number gain | See cases | |
| | CATSPER2, LOC130056948 +1 more | Copy number loss | See cases | |
| | CATSPER2, LOC130056948 +1 more | Copy number gain | See cases | |
| | CATSPER2, LOC130056948 +1 more | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | 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 (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | Rare genetic deafness +2 more | |
| | | Single nucleotide variant (intron variant) | Rare genetic deafness +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC130056948, CATSPER2 +1 more | Deletion | Rare genetic deafness | |
| | | Single nucleotide variant (splice donor variant) | Male infertility | |
| | CATSPER2, LOC130056949 (E281G +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CATSPER2, LOC130056949 (R271L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CATSPER2, LOC130056949 (S264L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CATSPER2, LOC130056949 (I254T +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CATSPER2, LOC130056949 (F251I +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Deletion | Rare genetic deafness +1 more | |
| | CATSPER2, LOC130056949 (M252I +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Copy number loss | not provided | |
| | BLOC1S6, C15orf48 +61 more | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Deletion | Autosomal recessive nonsyndromic hearing loss 16 | |
| | | Deletion | Autosomal recessive nonsyndromic hearing loss 16 | |
| | | Deletion | Deafness-infertility syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Duplication | Familial colorectal cancer +1 more | |
| | | Deletion | Hearing impairment | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |