| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | EFHD1, LOC122861314 (K100T) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | EFHD1, LOC122861314 (V77I) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | EFHD1, LOC122861314 (P40H) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | EFHD1, LOC122861314 (K100R) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | EFHD1, LOC122861314 (P80S) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | EFHD1, LOC122861314 (A49P) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Copy number loss | Chromosome 2q37 deletion syndrome | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Duplication | not provided | |
| | | Duplication | Joubert syndrome 22 +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Chromosome 2q37 deletion syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | EFHD1, LOC122861314 (T82M) | Single nucleotide variant (5 prime UTR variant +2 more) | Anophthalmia-microphthalmia syndrome | |
| | | Copy number loss | See cases | |
| | LOC129935871, LOC129935872 +986 more | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935841, LOC129935842 +1148 more | Copy number gain | See cases | |
| | LOC129935973, LOC129935974 +576 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806566, LOC126806567 +393 more | Copy number loss | See cases | |
| | LOC129935480, LOC129935481 +1299 more | Copy number gain | See cases | |
| | LOC129935973, LOC129935974 +455 more | Copy number loss | See cases | |