| | | Copy number loss | See cases | |
| | 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 +4 more | Copy number gain | See cases | Gconflicting data from submitters |
| | LOC105375387, LOC126860099 +5 more | Copy number gain | See cases | |
| | LOC105375387, LOC126860099 +4 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 | |
| | LOC105375387, LOC126860099 +4 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 | |
| | | Copy number loss | 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 | |