| | | Single nucleotide variant (missense variant) | Congenital disorder of deglycosylation 2 | |
| | | Single nucleotide variant (intron variant) | MAN2C1-related condition | |
| | | Copy number loss | not provided | |
| | | Deletion (frameshift variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | MAN2C1-related condition | |
| | MAN2C1, NEIL1 (G763S +2 more) | Single nucleotide variant (missense variant +2 more) | MAN2C1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of deglycosylation 2 | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of deglycosylation 2 | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Chromosome 15q24 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MAN2C1, NEIL1 (A866V +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MAN2C1, NEIL1 (R905Q +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | MAN2C1, NEIL1 (R1018H +3 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | MAN2C1, NEIL1 (R901C +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MAN2C1, NEIL1 (R1035C +3 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC112272617, MAN2C1 (A4V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC112272617, MAN2C1 (R16Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112272617, MAN2C1 (H9Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MAN2C1, NEIL1 (L913M +3 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112272617, MAN2C1 (V17L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | NEIL1, MAN2C1 (R871H +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC121847958, MAN2C1 +1 more (V857I +3 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | NEIL1, LOC121847958 +1 more (R987C +3 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | MAN2C1, NEIL1 (R802H +2 more) | Single nucleotide variant (missense variant +2 more) | Congenital disorder of deglycosylation 2 | |
| | | Single nucleotide variant (intron variant) | Hypogonadotropic hypogonadism 27 without anosmia | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of deglycosylation 2 +1 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Hearing impairment | |
| | LOC112272617, MAN2C1 (E18del) | Deletion (inframe_deletion) | Congenital disorder of deglycosylation 2 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital disorder of deglycosylation 2 | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of deglycosylation 2 | |
| | MAN2C1, NEIL1 (H812fs +2 more) | Microsatellite (frameshift variant +2 more) | Congenital disorder of deglycosylation 2 | |
| | MAN2C1, NEIL1 (C871S +2 more) | Single nucleotide variant (missense variant +2 more) | Congenital disorder of deglycosylation 2 | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of deglycosylation 2 | |
| | | Single nucleotide variant (intron variant +1 more) | Congenital disorder of deglycosylation 2 | GConflicting classifications of pathogenicity |
| | | Duplication | Familial colorectal cancer +1 more | |
| | | Deletion | Epilepsy +1 more | |
| | | Copy number gain | not provided | |
| | | 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 | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | SIN3A-related intellectual disability syndrome due to a point mutation | |
| | | Duplication | not provided | |