| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC126805714, RIMS3 (Y194C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126805714, RIMS3 (L171V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | RIMS3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RIMS3-related disorder | |
| | LOC126805714, RIMS3 (G234S) | Single nucleotide variant (missense variant) | RIMS3-related disorder | |
| | LOC126805714, RIMS3 (A207T) | Single nucleotide variant (missense variant) | RIMS3-related disorder | |
| | | Single nucleotide variant (intron variant) | RIMS3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RIMS3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RIMS3-related disorder | |
| | LOC126805714, RIMS3 (P185A) | Single nucleotide variant (missense variant) | RIMS3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RIMS3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RIMS3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RIMS3-related disorder | |
| | | Copy number loss | not provided | |
| | A3GALT2, ACOT11 +1226 more | Inversion | Bilateral polymicrogyria | |
| | | Single nucleotide variant (missense variant) | RIMS3-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC126805714, RIMS3 (A163T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126805714, RIMS3 (P220S) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number gain | Global developmental delay +1 more | |
| | | Duplication | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | GPATCH2, GPATCH3 +2014 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LINC02811, LITATS1 +1147 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |