| | | Copy number gain | See cases | |
| | LOC120908923, LOC120947224 +1352 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932855, LOC129932856 +1168 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC02765, LINC02768 +955 more | Copy number gain | See cases | |
| | LOC440742, LYPD8 +955 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932825, LOC129932826 +952 more | Copy number gain | See cases | |
| | LOC129932658, LOC129932659 +950 more | Copy number gain | See cases | |
| | LOC126806053, LOC126806054 +870 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (nonsense) | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (missense variant) | COG2-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | Congenital disorder of glycosylation, type IIq | |
| | | Deletion (frameshift variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation, type IIq | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IIq | |
| | | Duplication (frameshift variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IIq | |
| | | Duplication (nonsense) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IIq | |