| | LOC112340388, LOC112441449 +821 more | Copy number gain | See cases | |
| | LOC130058535, LOC130058536 +916 more | Copy number gain | See cases | |
| | LOC105371046, LOC105371050 +842 more | Copy number gain | See cases | |
| | LOC130058149, LOC130058150 +925 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112486224, LOC112486225 +58 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Gamma-aminobutyric acid transaminase deficiency | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ABAT, LOC130058390 +5 more | Deletion | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | PMM2-related disorder | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Deletion | PMM2-congenital disorder of glycosylation | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | PMM2-congenital disorder of glycosylation | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | PMM2-congenital disorder of glycosylation | |
| | | Deletion (inframe_deletion) | PMM2-congenital disorder of glycosylation | |
| | | Deletion (frameshift variant) | PMM2-congenital disorder of glycosylation | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | PMM2-congenital disorder of glycosylation | |
| | | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (nonsense) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | PMM2-congenital disorder of glycosylation | |
| | | Deletion (frameshift variant) | PMM2-congenital disorder of glycosylation | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation | |
| | | Duplication (frameshift variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (nonsense) | PMM2-congenital disorder of glycosylation | |
| | | Indel (splice donor variant) | PMM2-congenital disorder of glycosylation | |
| | | Deletion (splice donor variant) | PMM2-congenital disorder of glycosylation | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (splice donor variant) | PMM2-congenital disorder of glycosylation | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | PMM2-congenital disorder of glycosylation | |
| | | Deletion (intron variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | PMM2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |