| | LOC130001752, LOC130001753 +1005 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130001516, LOC130001517 +217 more | Copy number loss | See cases | |
| | LOC130001539, LOC130001540 +3785 more | Copy number gain | See cases | |
| | LOC130001810, LOC130001811 +1213 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113839508, LOC113839509 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113839555, LOC113839556 +1119 more | Copy number gain | See cases | |
| | LOC130001667, LOC130001668 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130001585, LOC130001586 +882 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC116186942, LOC116186943 +3785 more | Copy number gain | See cases | |
| | LOC130001517, LOC130001518 +484 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001502, LOC130001503 +233 more | Deletion | Chromosome 9p deletion syndrome | |
| | | Copy number loss | See cases | |
| | LOC130001462, LOC130001463 +119 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130001526, LOC130001527 +247 more | Copy number loss | See cases | |
| | LOC130001462, LOC130001463 +183 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001472, LOC130001473 +983 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001652, LOC130001653 +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 | |
| | | 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 | |
| | SNORD137, SPATA6L +303 more | Copy number loss | See cases | |
| | LOC130001648, LOC130001649 +898 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130001441, LOC130001442 +215 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130001522, LOC130001523 +297 more | Copy number loss | See cases | |
| | LOC121366033, LOC121366034 +3785 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001520, LOC130001521 +410 more | Copy number gain | See cases | |
| | LOC130001569, LOC130001570 +897 more | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130001455, LOC130001456 +280 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC105375972, LOC105375976 +295 more | Copy number loss | See cases | |
| | LOC121331319, LOC121740737 +222 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC124210609, LOC124210610 +210 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130001490, LOC130001491 +172 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | CDKN2B, CDKN2B-AS1 +412 more | 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) | Neonatal diabetes mellitus with congenital hypothyroidism +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) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | GLIS3, GLIS3-AS1 (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 (A536D +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | 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) | not provided +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 | |