| | | 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) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | PNPLA5-related condition | |
| | | Single nucleotide variant (missense variant) | PNPLA5-related condition | |
| | | Single nucleotide variant (synonymous variant) | PNPLA5-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | PNPLA5-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | PNPLA5-related condition | |
| | | Single nucleotide variant (intron variant) | PNPLA5-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | PNPLA5-related condition | |
| | | Single nucleotide variant (intron variant) | PNPLA5-related condition | |
| | | Single nucleotide variant (synonymous variant) | PNPLA5-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | PNPLA5-related condition | |
| | | Single nucleotide variant (missense variant) | PNPLA5-related condition | |
| | | Single nucleotide variant (synonymous variant) | PNPLA5-related condition | |
| | | Single nucleotide variant (missense variant) | PNPLA5-related condition | |
| | | Single nucleotide variant (intron variant) | PNPLA5-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | PNPLA5-related condition | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | Phelan-McDermid syndrome | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | See cases | |
| | | Deletion | Phelan-McDermid syndrome | |
| | | Deletion | Phelan-McDermid syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Phelan-McDermid syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | C22orf15, C22orf23 +435 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 gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130067881, LOC130067882 +523 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863178, LOC126863179 +451 more | Copy number loss | See cases | |
| | LOC130067636, LOC130067637 +492 more | Copy number gain | See cases | |
| | LOC130067673, LOC130067674 +580 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126863153, LOC126863154 +2088 more | Copy number gain | See cases | |
| | LOC130067848, LOC130067849 +687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC114004363, LOC121627950 +27 more | Copy number gain | See cases | |
| | LOC132090656, LOC132090657 +495 more | Copy number gain | See cases | |
| | LOC130067875, LOC130067876 +502 more | Copy number gain | See cases | |
| | LOC112695092, LOC112695093 +1004 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |