| | LOC130006424, LOC130006425 +305 more | Copy number loss | See cases | |
| | | 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 | |
| | | 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 | |
| | | 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 | |
| | KLHL35, LOC111822946 (P336T) | 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 (synonymous 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 (missense variant) | not specified | |
| | KLHL35, LOC130006425 (C142S) | Single nucleotide variant (missense variant) | not specified | |
| | KLHL35, LOC130006425 (A141V) | Single nucleotide variant (missense variant) | not specified | |
| | KLHL35, LOC130006425 (R139H) | 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 | |
| | KLHL35, LOC130006426 (L103P) | Single nucleotide variant (missense variant) | not specified | |
| | KLHL35, LOC130006426 (A99T) | Single nucleotide variant (missense variant) | not specified | |
| | KLHL35, LOC130006426 (P92Q) | Single nucleotide variant (missense variant) | not specified | |
| | KLHL35, LOC130006426 (V85M) | Single nucleotide variant (missense variant) | not specified | |
| | KLHL35, LOC130006426 (G78S) | Single nucleotide variant (missense variant) | not specified | |
| | KLHL35, LOC130006426 (R77H) | Single nucleotide variant (missense variant) | not specified | |
| | KLHL35, LOC130006426 (R67P) | Single nucleotide variant (missense variant) | not specified | |
| | KLHL35, LOC130006426 (Y65C) | Single nucleotide variant (missense variant) | not specified | |
| | KLHL35, LOC130006426 (A57T) | Single nucleotide variant (missense variant) | not specified | |
| | KLHL35, LOC130006426 (G48A) | Single nucleotide variant (missense variant) | not specified | |
| | KLHL35, LOC130006426 (D42Y) | Single nucleotide variant (missense variant) | not provided | |
| | KLHL35, LOC130006426 (L40H) | Single nucleotide variant (missense variant) | not specified | |
| | KLHL35, LOC130006426 (T39I) | Single nucleotide variant (missense variant) | not specified | |
| | KLHL35, LOC130006426 (L31P) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | 3-methylglutaconic aciduria, type VIIB | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number gain | not specified | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | SLC37A4, SNORD26 +1289 more | Copy number gain | See cases | |