| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | LOC132089671, LOC132089672 +1213 more | Copy number gain | See cases | |
| | LOC130002976, LOC130002977 +3784 more | Copy number gain | See cases | |
| | LOC130001468, LOC130001469 +3785 more | Copy number gain | See cases | |
| | DNAJB5, DNAJB5-DT +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | LOC124252641, LOC124252642 +3785 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 | |
| | LINC03026, LINC03041 +1366 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001549, LOC130001550 +233 more | Deletion | Chromosome 9p deletion syndrome | |
| | | Copy number loss | See cases | |
| | LOC130001451, LOC130001452 +119 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001672, LOC130001673 +983 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860601, LOC126860602 +581 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 | |
| | LOC130001510, LOC130001511 +256 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC03041, LINC03106 +898 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 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC110120726, LOC110120727 +3785 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC124210616, LOC124225047 +410 more | Copy number gain | See cases | |
| | LOC126860576, LOC126860577 +897 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130001469, LOC130001470 +898 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126860572, LOC126860573 +217 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130001436, LOC130001437 +179 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126860553, LOC126860554 +280 more | Copy number loss | See cases | |
| | LOC130001440, LOC130001441 +213 more | Copy number loss | See cases | |
| | LOC130001466, LOC130001467 +295 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001493, LOC130001494 +210 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130001453, LOC130001454 +172 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | GLIS3-AS1, GLIS3 (G704R +1 more) | Single nucleotide variant (missense variant +1 more) | Neonatal diabetes mellitus with congenital hypothyroidism | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GLIS3, GLIS3-AS1 (P703S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | GLIS3, GLIS3-AS1 (R544H +1 more) | Single nucleotide variant (missense variant +1 more) | Monogenic diabetes +3 more | |
| | GLIS3, GLIS3-AS1 (R699C +1 more) | Single nucleotide variant (missense variant +1 more) | Monogenic diabetes +2 more | GConflicting classifications of pathogenicity |
| | GLIS3, GLIS3-AS1 (V542M +1 more) | Single nucleotide variant (missense variant +1 more) | Neonatal diabetes mellitus with congenital hypothyroidism +3 more | GConflicting classifications of pathogenicity |
| | GLIS3-AS1, GLIS3 (T696P +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | GLIS3, GLIS3-AS1 (A693T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | GLIS3, GLIS3-AS1 (A536V +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | GLIS3, GLIS3-AS1 (S687F +1 more) | Single nucleotide variant (missense variant +1 more) | Neonatal diabetes mellitus with congenital hypothyroidism +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GLIS3, GLIS3-AS1 (C676F +1 more) | Single nucleotide variant (missense variant +1 more) | Neonatal diabetes mellitus with congenital hypothyroidism +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GLIS3, GLIS3-AS1 (E667A +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | GLIS3, GLIS3-AS1 (S510R +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | GLIS3, GLIS3-AS1 (S665N +1 more) | Single nucleotide variant (missense variant +1 more) | Neonatal diabetes mellitus with congenital hypothyroidism +1 more | |
| | GLIS3, GLIS3-AS1 (R508P +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | GLIS3, GLIS3-AS1 (R663Q +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |