| | | Single nucleotide variant (synonymous variant +1 more) | ASMT-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | ASMT-related disorder | |
| | | Deletion (intron variant) | ASMT-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ASMT-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ASMT-related disorder | |
| | | Single nucleotide variant (splice donor variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | ASMT-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Autism | |
| | LOC106128902, LOC106144556 +160 more | Duplication | Autism | |
| | ARMCX3, CT47A11 +2631 more | Duplication | Autism +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | LOC116309160, LOC116309161 +2631 more | Copy number gain | See cases | |
| | LOC130068156, LOC130068157 +2632 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068116, LOC130068117 +2633 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068404, LOC130068405 +2632 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068097, LOC130068098 +1041 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC109396974, LOC109504725 +2632 more | Copy number gain | See cases | |
| | LOC130068209, LOC130068210 +1130 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ITGB1BP2, ITIH6 +2632 more | 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 | |
| | | 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 | |
| | LOC126863219, LOC126863220 +986 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | Gconflicting data from submitters |
| | | Copy number gain | See cases | |
| | LOC130068002, LOC130068003 +1069 more | Copy number loss | See cases | |
| | LINC00629, LINC00630 +2632 more | Copy number gain | 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 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 loss | See cases | |
| | LOC130068016, LOC130068017 +1163 more | Copy number loss | See cases | |
| | LOC130067965, LOC130067966 +1008 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ASMTL, ASMTL-AS1 +282 more | Copy number loss | See cases | |
| | LOC130067993, LOC130067994 +919 more | Copy number loss | See cases | |
| | | Copy number gain | 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 | |
| | LOC130068611, LOC130068612 +2632 more | Copy number loss | See cases | |
| | LOC130068277, LOC130068278 +2632 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | 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 loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | FRMPD4-AS1, FTHL17 +1024 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | GAGE12H, GAGE12I +1163 more | Copy number loss | See cases | |
| | CENPVL1, CENPVL2 +2632 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |