| | | Single nucleotide variant (nonsense) | Phelan-McDermid syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | | 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 specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | CHKB, LOC112695108 +404 more | Copy number loss | Phelan-McDermid syndrome | |
| | | Single nucleotide variant | Phelan-McDermid syndrome | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Microsatellite (frameshift variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | SHANK3-related condition | |
| | | Single nucleotide variant (intron variant) | SHANK3-related condition | |
| | | Deletion (3 prime UTR variant) | SHANK3-related condition | |
| | | Single nucleotide variant (intron variant) | SHANK3-related condition | |
| | | Single nucleotide variant (intron variant) | SHANK3-related condition | |
| | | Single nucleotide variant (synonymous variant) | SHANK3-related condition | |
| | | Single nucleotide variant (missense variant) | SHANK3-related condition | |
| | | Single nucleotide variant (missense variant) | SHANK3-related condition | |
| | | Single nucleotide variant (synonymous variant) | SHANK3-related condition | |
| | | Single nucleotide variant (synonymous variant) | SHANK3-related condition | |
| | | Single nucleotide variant (synonymous variant) | SHANK3-related condition | |
| | | Single nucleotide variant (synonymous variant) | SHANK3-related condition | |
| | | Single nucleotide variant (synonymous variant) | SHANK3-related condition | |
| | | Single nucleotide variant (synonymous variant) | SHANK3-related condition | |
| | | Single nucleotide variant (synonymous variant) | SHANK3-related condition | |
| | | Single nucleotide variant (3 prime UTR variant) | SHANK3-related condition | |
| | | Single nucleotide variant (synonymous variant) | SHANK3-related condition | |
| | | Single nucleotide variant (intron variant) | SHANK3-related condition | |
| | | Single nucleotide variant (missense variant) | SHANK3-related condition | |
| | | Single nucleotide variant (synonymous variant) | SHANK3-related condition | |
| | | Single nucleotide variant (missense variant) | SHANK3-related condition | |
| | | Single nucleotide variant (missense variant) | SHANK3-related condition | |
| | | Single nucleotide variant (synonymous variant) | SHANK3-related condition | |
| | | Single nucleotide variant (synonymous variant) | SHANK3-related condition | |
| | | Single nucleotide variant (missense variant) | SHANK3-related condition | |
| | | Single nucleotide variant (missense variant) | SHANK3-related condition | |
| | | Single nucleotide variant (synonymous variant) | SHANK3-related condition | |
| | | Duplication (frameshift variant) | SHANK3-related condition | |
| | | Single nucleotide variant (missense variant) | SHANK3-related condition | |
| | | Single nucleotide variant (missense variant) | SHANK3-related condition | |
| | | Single nucleotide variant (synonymous variant) | SHANK3-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126863188, SHANK3 (P605R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (nonsense) | Phelan-McDermid syndrome | |
| | | Duplication (frameshift variant) | Schizophrenia 15 +1 more | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | 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 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (nonsense) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (inframe_insertion +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |