| | LOC129998085, LOC129998086 +904 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129998210, LOC129998211 +1148 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129998072, LOC129998073 +331 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC111365192, LOC111413014 +281 more | Copy number loss | See cases | |
| | ABCB5, ADCYAP1R1 +387 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | 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) | not specified | |
| | | 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) | not specified | |
| | | 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 +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129998788, LOC129998789 +227 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | CFAP69, LOC105375387 +13 more | Copy number gain | See cases | Gconflicting data from submitters |
| | CFAP69, LOC105375387 +13 more | Copy number gain | See cases | |
| | CFAP69, LOC105375387 +13 more | Copy number gain | See cases | |
| | CFAP69, LOC105375387 +13 more | Copy number gain | See cases | Gconflicting data from submitters |
| | LOC105375387, LOC113748415 +12 more | Copy number gain | See cases | |
| | CFAP69, LOC105375387 +13 more | Copy number gain | See cases | |
| | LOC105375387, LOC126860099 +5 more | Copy number gain | See cases | |
| | LOC105375387, LOC126860099 +5 more | Copy number gain | See cases | GConflicting classifications of pathogenicity |
| | LOC105375387, LOC126860099 +5 more | Copy number gain | See cases | |
| | CFAP69, LOC105375387 +11 more | Copy number gain | See cases | |
| | CFAP69, LOC105375387 +11 more | Copy number gain | See cases | |
| | CFAP69, LOC105375387 +9 more | Copy number gain | See cases | |
| | LOC105375387, LOC126860099 +3 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | GTPBP10, LOC101927446 +11 more | Copy number gain | Diaphragmatic hernia | |
| | | 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) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | STEAP1, STEAP2-AS1 (Y107H) | Single nucleotide variant (missense variant) | not specified | |
| | STEAP1, STEAP2-AS1 (A136P) | Single nucleotide variant (missense variant) | not specified | |
| | STEAP1, STEAP2-AS1 (A137E) | Single nucleotide variant (missense variant) | not specified | |
| | STEAP1, STEAP2-AS1 (I138T) | Single nucleotide variant (missense variant) | not specified | |
| | STEAP1, STEAP2-AS1 (F170L) | Single nucleotide variant (missense variant) | not specified | |
| | STEAP1, STEAP2-AS1 (V173I) | Single nucleotide variant (missense variant) | not specified | |
| | STEAP1, STEAP2-AS1 (S181T) | Single nucleotide variant (missense variant) | not specified | |
| | STEAP1, STEAP2-AS1 (M184V) | Single nucleotide variant (missense variant) | not specified | |
| | STEAP1, STEAP2-AS1 (R186Q) | Single nucleotide variant (missense variant) | not specified | |
| | STEAP1, STEAP2-AS1 (G258R) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | STEAP1, STEAP2-AS1 (A273T) | Single nucleotide variant (missense variant) | not specified | |
| | STEAP1, STEAP2-AS1 (N275Y) | Single nucleotide variant (missense variant) | not specified | |
| | STEAP1, STEAP2-AS1 (I280T) | Single nucleotide variant (missense variant) | not specified | |
| | STEAP1, STEAP2-AS1 (I303T) | Single nucleotide variant (missense variant) | not specified | |
| | STEAP1, STEAP2-AS1 (H322R) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Hypomyelination and Congenital Cataract +1 more | |
| | | Copy number loss | See cases | |
| | CACNA2D1, CADPS2 +896 more | Complex | Ring chromosome 7 | |
| | | Copy number gain | not specified | |
| | ABCB5, ADCYAP1R1 +117 more | Copy number gain | not specified | |
| | | Duplication | Primary ciliary dyskinesia | |
| | ATP5MF-PTCD1, AZGP1 +127 more | Copy number gain | Isolated Pierre-Robin syndrome +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Pleomorphic xanthoastrocytoma | |
| | ABCB5, ADCYAP1R1 +119 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Inversion | Childhood apraxia of speech | |
| | | Copy number gain | Breast ductal adenocarcinoma | |