| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | ADAMTS12, ADAMTS16 +89 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | LOC129993645, LOC129993646 +419 more | Copy number loss | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | |
| | PDCD6, PDCD6-AHRR (I40M +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | PDCD6, PDCD6-AHRR (T101A +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PDCD6, PDCD6-AHRR (T101M +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | PDCD6-AHRR, PDCD6 (R68Q +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PDCD6, PDCD6-AHRR (I164V +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | PDCD6, PDCD6-AHRR (D69G +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PDCD6, PDCD6-AHRR (R123W +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129993532, PDCD6 +1 more (P23L) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | PDCD6, PDCD6-AHRR (R100C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Global developmental delay | |
| | | Copy number loss | 5p partial monosomy syndrome | |
| | | Copy number gain | 5p partial monosomy syndrome | |
| | | Deletion | Parkinsonism-dystonia, infantile | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | MARCHF11, MARCHF6 +67 more | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | 5p partial monosomy syndrome | |
| | | Deletion | Dyskeratosis congenita, autosomal dominant 2 +1 more | |
| | | Deletion | Dyskeratosis congenita, autosomal dominant 2 +1 more | |
| | ZDHHC11B, ZDHHC11 +15 more | Duplication | Interstitial lung disease 2 +1 more | |
| | | 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 | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | 5p partial monosomy syndrome | |
| | | Copy number loss | 5p partial monosomy syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | ADAMTS12, ADAMTS16 +90 more | Copy number gain | 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 | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |