| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00578, LINC00880 +1317 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129937828, LOC129937829 +1244 more | Copy number gain | See cases | |
| | LOC129938023, LOC129938024 +1200 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +1064 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +1041 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +866 more | Copy number gain | See cases | |
| | LOC110121069, LOC110121110 +557 more | 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 loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MELTF-AS1, MIR4797 +166 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121048736, NCBP2 +114 more | Deletion | Chromosome 3q29 microdeletion syndrome | |
| | | Copy number gain | See cases | |
| | DYNLT2B, LINC00885 +41 more | Copy number gain | See cases | |
| | LOC123464499, LOC123464500 +114 more | Duplication | Autism | |
| | FBXO45, LOC129938278 +113 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112935924, LOC115995537 +109 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Schizophrenia | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | Gconflicting data from submitters |
| | | Copy number gain | See cases | |
| | LINC00885, LOC126806932 +107 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC105374308, LOC126806932 +107 more | 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 | |
| | | Deletion | Schizophrenia | |
| | TM4SF19, TM4SF19-AS1 +1 more | Single nucleotide variant | not provided | |
| | TM4SF19, TM4SF19-AS1 +1 more | Single nucleotide variant | not provided | |
| | TM4SF19, TM4SF19-AS1 +1 more (N238S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | TM4SF19, TM4SF19-AS1 +1 more (N212D) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | TM4SF19, TM4SF19-AS1 +1 more (T196I) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | TM4SF19, TM4SF19-AS1 +1 more (L186F +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | TM4SF19, TM4SF19-AS1 +1 more (P177L) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | TM4SF19, TM4SF19-AS1 +1 more (L127V +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | TM4SF19, TM4SF19-AS1 +1 more (Q136R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | TM4SF19, TM4SF19-DYNLT2B (R92Q) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | TM4SF19, TM4SF19-DYNLT2B (R81T) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | TM4SF19, TM4SF19-DYNLT2B (V68L) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | TM4SF19, TM4SF19-DYNLT2B (G60R) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | TM4SF19, TM4SF19-DYNLT2B (V43I) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | TM4SF19, TM4SF19-DYNLT2B (D42V) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | TM4SF19, TM4SF19-DYNLT2B (A30P) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | TM4SF19, TM4SF19-DYNLT2B (R16H) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | TM4SF19, TM4SF19-DYNLT2B (C14fs) | Duplication (non-coding transcript variant +1 more) | not provided | |
| | TM4SF19, TM4SF19-DYNLT2B (T13A) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | TM4SF19, TM4SF19-DYNLT2B (R12Q) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | TM4SF19, TM4SF19-DYNLT2B (R12W) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | TM4SF19, TM4SF19-DYNLT2B (C6F) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | TM4SF19, TM4SF19-DYNLT2B (P5H) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not specified | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Isolated anorectal malformation | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Chromosome 3q29 microdeletion syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Chromosome 3q29 microdeletion syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | 3q28q29 deletion syndrome | |
| | | Copy number gain | See cases | |
| | | Duplication | not provided | |
| | | Copy number gain | Delayed speech and language development +1 more | |
| | | Copy number gain | Motor delay +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |