| | LOC129937446, LOC129937447 +1343 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Chromosome 3q13.31 deletion syndrome | |
| | | Copy number loss | See cases | |
| | LOC129937268, LOC129937269 +2645 more | Copy number gain | See cases | |
| | LOC129937263, LOC129937264 +247 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | NECTIN3-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | NECTIN3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | NECTIN3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | NECTIN3-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | NECTIN3-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (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) | Developmental cataract | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | NECTIN3-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | NECTIN3-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | NECTIN3-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | NECTIN3-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | NECTIN3-related disorder | |
| | | Single nucleotide variant (missense variant) | NECTIN3-related disorder | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Chromosome 3q13.31 deletion syndrome | |
| | | Copy number loss | not provided | |
| | NECTIN3-AS1, ZBED2 +2 more | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |