| | LOC130005128, LOC130005129 +723 more | Copy number gain | See cases | |
| | LOC106799843, LOC106865369 +388 more | Copy number gain | See cases | |
| | LOC106783508, LOC106799843 +271 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | A-GAMMA3'E, ABCC8 +917 more | Copy number gain | See cases | |
| | BGLT3, A-GAMMA3'E +328 more | Deletion | Thalassemia, gamma-delta-beta | |
| | KRTAP5-6, KRTAP5-AS1 +129 more | Copy number loss | See cases | |
| | | Copy number gain | 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 | |
| | IGF2, INS-IGF2 (E174A +1 more) | Single nucleotide variant (missense variant +1 more) | IGF2-related condition | |
| | IGF2, INS-IGF2 (E174fs +1 more) | Insertion (frameshift variant +1 more) | Colorectal cancer | |
| | IGF2, INS-IGF2 (E230fs +1 more) | Duplication (frameshift variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (P229L +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | IGF2, INS-IGF2 (P173S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | IGF2, INS-IGF2 (G170fs +1 more) | Deletion (frameshift variant +1 more) | not specified | |
| | IGF2, INS-IGF2 (G169W +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | INS-IGF2, IGF2 (G225R +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (H168P +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | INS-IGF2, IGF2 (A167S +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | IGF2, INS-IGF2 (D165E +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | IGF2, INS-IGF2 (Q164* +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Deletion (nonsense +1 more) | not provided | |
| | IGF2, INS-IGF2 (R156H +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (R212C +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | IGF2, INS-IGF2 (R210C +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (E147K +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (E147Q +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (V197M +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (H196Y +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | INS-IGF2, IGF2 (G195V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (R138W +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | IGF2, INS-IGF2 (R138G +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (R191C +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (G129V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | IGF2, INS-IGF2 (R183L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (Q124E +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (W119* +1 more) | Single nucleotide variant (nonsense +1 more) | Silver-Russell syndrome 3 | |
| | INS-IGF2, IGF2 (R107S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (P158L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (P98L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (T86N +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (T82M +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (E137fs +1 more) | Microsatellite (frameshift variant +1 more) | Silver-Russell syndrome 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (A134T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | IGF2, INS-IGF2 (D132fs +1 more) | Deletion (frameshift variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (R73C +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (C127Y +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (C71R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (V123I +1 more) | Single nucleotide variant (missense variant +1 more) | Silver-Russell syndrome 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (I122fs +1 more) | Deletion (frameshift variant +1 more) | Silver-Russell syndrome 3 | |
| | IGF2, INS-IGF2 (R120C +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (R117C +1 more) | Single nucleotide variant (missense variant +1 more) | IGF2-related condition | |
| | IGF2, INS-IGF2 (A112T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (P111S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | 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) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | IGF2-related condition | |
| | | Single nucleotide variant (intron variant) | Silver-Russell syndrome 3 | |
| | | Insertion (splice donor variant) | Silver-Russell syndrome 1 | |
| | IGF2, INS-IGF2 (G105S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | IGF2, INS-IGF2 (L93fs +1 more) | Indel (frameshift variant +1 more) | Silver-Russell syndrome 3 | |
| | IGF2, INS-IGF2 (E36* +1 more) | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | IGF2, INS-IGF2 (E36fs +1 more) | Deletion (frameshift variant +1 more) | Silver-Russell syndrome 3 | |
| | IGF2, INS-IGF2 (G34D +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |