| | LOC129935343, LOC129935344 +1703 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935726, LOC129935727 +1665 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120629, LOC110120691 +986 more | Copy number gain | See cases | |
| | LOC129935966, LOC129935967 +630 more | Copy number gain | See cases | |
| | LOC132088828, LOC132088829 +576 more | Copy number gain | See cases | |
| | LOC129935965, LOC129935966 +455 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC132090688, LOC132090689 +325 more | Copy number loss | See cases | |
| | LOC126806577, LOC126806578 +334 more | Copy number loss | See cases | |
| | HDAC4, HDAC4-AS1 +334 more | Copy number loss | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC122889015, LOC122889016 +287 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC122889013, LOC122889014 +274 more | Deletion | Chromosome 2q37 deletion syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935970, LOC129935971 +251 more | 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 | |
| | | Deletion | Primary hyperoxaluria, type I | |
| | LOC129936021, LOC129936022 +144 more | Copy number loss | See cases | |
| | LOC110121227, LOC110599582 +143 more | 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 | |
| | GPR35, LOC122889014 +3 more | Duplication | Gestational diabetes mellitus uncontrolled +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GPR35, LOC122889014 (R87C +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | GPR35, LOC122889014 (A63V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPR35, LOC122889014 (L98P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPR35, LOC122889014 (V76M +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | GPR35, LOC122889014 (T117M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GPR35, LOC122889014 (P87L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPR35, LOC122889014 (S92F +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPR35, LOC122889014 (Y127F +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GPR35, LOC122889014 (I104M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPR35, LOC122889014 (T108M +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | GPR35, LOC122889014 (V112M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPR35, LOC122889014 (V118M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPR35, LOC122889014 (P152L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPR35, LOC122889014 (R123C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPR35, LOC122889014 (G126R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | GPR35, LOC122889014 (A165V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPR35, LOC122889014 (V136M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPR35, LOC122889014 (A138T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | 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 (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | 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 (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Copy number loss | not provided | |