| | A2ML1-AS2, A3GALT2 +2151 more | Copy number gain | Trisomy 12p | |
| | LOC121967050, LOC121967051 +520 more | Copy number loss | See cases | |
| | LOC129929262, LOC129929263 +458 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC01786, LINC02593 +338 more | Copy number gain | See cases | |
| | LOC129929191, LOC129929192 +325 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929084, LOC129929085 +320 more | Copy number gain | 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 | |
| | LOC129929192, LOC129929193 +490 more | 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 | |
| | LINC01786, LINC02593 +339 more | Copy number loss | See cases | |
| | LOC129929237, LOC129929238 +401 more | 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 | |
| | LOC129929075, LOC129929076 +464 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929302, LOC129929303 +577 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Anomalous pulmonary venous return | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC112577578, LOC112577579 +199 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC02783, LINC03126 +804 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | 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) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | 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) | 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) | 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) | 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) | not specified | |
| | LOC129929203, LRRC47 (P116R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129929203, LRRC47 (A100T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129929203, LRRC47 (L80V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC112577581, LRRC47 (A5T) | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | not provided | |
| | | Deletion | Shprintzen-Goldberg syndrome | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Chromosome 1p36 deletion syndrome | |
| | | Copy number loss | not provided | |
| | ARHGEF16, C1orf174 +11 more | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Chromosome 1p36 deletion syndrome, proximal | |
| | | Copy number loss | Chromosome 1p36 deletion syndrome | |
| | TNFRSF18, TNFRSF4 +77 more | Copy number loss | Chromosome 1p36 deletion syndrome | |
| | | Deletion | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Copy number loss | Chromosome 1p36 deletion syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Chromosome 1p36 deletion syndrome | |