| | ADAM7-AS1, ADAMDEC1 (H215R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (K163E +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (G382R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (L321P +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (D225G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (V245M +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (T113I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (E169K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (L106S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (T458N +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (H347R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not specified | |
| | DEFB134, DEFB135 +234 more | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | ADAM7-AS1, ADAMDEC1 (V172F +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | Microcephaly | |
| | ADAM7-AS1, ADAMDEC1 (N346I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (G67S) | Single nucleotide variant (5 prime UTR variant +3 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (K278R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (G145R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (I44T) | Single nucleotide variant (5 prime UTR variant +3 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (R136W +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (V11A) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (G383R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not provided | |
| | ADAM7-AS1, ADAMDEC1 (T63I) | Single nucleotide variant (5 prime UTR variant +3 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (G194R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (H17N +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (S62G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (A12T) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (R398S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (M170T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (A171D +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (N366I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAM7-AS1, ADAMDEC1 (H106R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Complex | See cases | |
| | | Copy number loss | See cases | |
| | ASAH1-AS1, ASH2L +251 more | Complex | 8p inverted duplication/deletion syndrome | |
| | | Copy number gain | Polydactyly | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Abnormal fetal cardiovascular morphology | |
| | | Copy number gain | not provided | |
| | ADAM7-AS1, ADAMDEC1 (T40M) | Single nucleotide variant (5 prime UTR variant +3 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ADAM7-AS1, ADAMDEC1 (P439S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ADAM7-AS1, ADAMDEC1 (M121T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ADAM7-AS1, ADAMDEC1 (I81T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ADAM7-AS1, ADAMDEC1 (I44R) | Single nucleotide variant (5 prime UTR variant +3 more) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | CSGALNACT1, SFTPC +77 more | Copy number gain | Autism +7 more | |
| | ASAH1-AS1, ATP6V1B2 +129 more | 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 | |
| | PPDPFL, PPP1R16A +665 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | 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 | |
| | MIR4660, MIR548H4 +773 more | Copy number loss | See cases | |
| | LOC121331299, LOC121331300 +868 more | Copy number gain | See cases | |
| | LOC101929258, LOC101929470 +920 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999937, LOC129999938 +3658 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC132089588, LOC132089589 +510 more | Copy number loss | See cases | |
| | LOC130000156, LOC130000157 +3106 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999850, LOC129999851 +1038 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000275, LOC130000276 +927 more | Copy number gain | See cases | |
| | LOC130000249, LOC130000250 +789 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000150, LOC130000151 +996 more | Copy number gain | See cases | |
| | MIR7705, MIR7848 +3656 more | Copy number gain | See cases | |