| | LOC129996876, LOC129996877 +1449 more | 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 | |
| | LOC129389576, LOC129389577 +153 more | Copy number loss | See cases | |
| | C6orf163, CFAP206 +16 more | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | SLC35A1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | SLC35A1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | SLC35A1-congenital disorder of glycosylation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | SLC35A1-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (synonymous variant +1 more) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | SLC35A1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Deletion (frameshift variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Deletion (frameshift variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (synonymous variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | SLC35A1-congenital disorder of glycosylation | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | SLC35A1-congenital disorder of glycosylation | |
| | | 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) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Microsatellite (inframe_deletion) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | SLC35A1-congenital disorder of glycosylation | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | SLC35A1-congenital disorder of glycosylation | |
| | | Deletion (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | SLC35A1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | SLC35A1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Duplication (intron variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Deletion (intron variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | SLC35A1-congenital disorder of glycosylation +4 more | |
| | | Single nucleotide variant (intron variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | SLC35A1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | not specified | |