| | | Copy number gain | not specified | |
| | LOC100134040, LRRC61 +40 more | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126860222, ZNF746 (R89H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126860222, ZNF746 (G75R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | not provided | |
| | LOC126860222, ZNF746 (G57R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126860222, ZNF746 (I25V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129999563, ZNF746 (P8S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | See cases | |
| | CACNA2D1, CADPS2 +896 more | Complex | Ring chromosome 7 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | ATP6V0E2, C7orf33 +20 more | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ATP6V0E2, C7orf33 +20 more | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Abnormal esophagus morphology | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | | Complex | Breast ductal adenocarcinoma | |
| | TMEM139-AS1, TMEM140 +1052 more | Copy number gain | See cases | |
| | LOC123956245, LOC123956246 +1025 more | Copy number gain | See cases | |
| | LOC129389937, LOC129389938 +526 more | Copy number loss | See cases | |
| | MIR5707, MIR595 +1046 more | Copy number gain | See cases | |
| | LOC129999548, LOC129999549 +1547 more | Copy number gain | See cases | |
| | LOC285889, LOC349160 +1025 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ACTR3C, ARHGEF35 +172 more | Copy number gain | See cases | |
| | LOC129999467, LOC129999468 +944 more | Copy number loss | See cases | |
| | TRC-GCA22-1, TRC-GCA23-1 +540 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999578, LOC129999579 +538 more | Copy number loss | See cases | |
| | LOC129389950, LOC129999513 +707 more | Copy number loss | See cases | |
| | LOC129998995, LOC129998996 +2212 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860222, LOC126860223 +329 more | Copy number gain | See cases | |
| | CCDC146, CCDC201 +4735 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129389931, LOC129389932 +573 more | Copy number loss | See cases | |
| | LOC129999649, LOC129999650 +737 more | Copy number loss | See cases | |
| | LOC129999526, LOC129999527 +908 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ACTR3C, ATP6V0E2 +142 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |