| | LOC115995524, LOC115995525 +2647 more | Copy number gain | See cases | |
| | LOC129937936, LOC129937937 +631 more | Copy number gain | See cases | |
| | LOC123453201, LOC123453202 +1450 more | Copy number gain | See cases | |
| | LOC129938169, LOC129938170 +1318 more | Copy number gain | See cases | |
| | LOC108281160, LOC108281177 +1247 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +1245 more | Copy number gain | See cases | |
| | LOC132088897, LOC132088898 +1201 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | GFM1, LOC100287290 +13 more | Copy number loss | See cases | |
| | | 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 | |
| | LOC100287290, LOC110121239 +11 more | Copy number loss | See cases | |
| | LOC100287290, LOC110121239 +11 more | Copy number loss | See cases | Gconflicting data from submitters |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806859, RARRES1 (S106G) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806859, RARRES1 (V103M) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806859, RARRES1 (C99R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806859, RARRES1 (G98R) | 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 | |
| | LOC129937823, RARRES1 (P46R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129937823, RARRES1 (D42A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129937823, RARRES1 (D42H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129937823, RARRES1 (S40A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC100287290, RARRES1 (W12R) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC100287290, RARRES1 (W12R) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | Global developmental delay | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |