| | PROSER2-AS1, PRPF18 +680 more | Copy number loss | See cases | |
| | MIR5699, MIR6072 +496 more | Copy number gain | See cases | |
| | ADARB2, ADARB2-AS1 +276 more | Copy number loss | See cases | |
| | LOC126860819, LOC126860820 +680 more | Copy number gain | See cases | |
| | LOC130003277, LOC130003278 +520 more | Copy number loss | See cases | |
| | LOC132090805, MANCR +482 more | Copy number gain | See cases | |
| | ACBD7, ACBD7-DCLRE1CP1 +837 more | Copy number gain | See cases | |
| | LOC130003153, LOC130003154 +421 more | Copy number gain | See cases | |
| | ADARB2, ADARB2-AS1 +298 more | Copy number gain | See cases | |
| | ADARB2, ADARB2-AS1 +352 more | Copy number gain | See cases | |
| | ADARB2, ADARB2-AS1 +86 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LINC02645, LOC105376350 +16 more | Copy number gain | See cases | |
| | LINC02645, LOC105376350 +19 more | Copy number gain | See cases | |
| | LOC130003188, LOC130003189 +195 more | Duplication | Schizophrenia | |
| | PITRM1, PITRM1-AS1 +2 more | Copy number loss | Premature ovarian failure | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | 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 | |
| | | 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 (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | 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 (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia, autosomal recessive 30 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | PITRM1, PITRM1-AS1 (T605M +8 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | PITRM1, PITRM1-AS1 (V438I +8 more) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | PITRM1, PITRM1-AS1 (R797Q +8 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PITRM1, PITRM1-AS1 (E433D +8 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | PITRM1, PITRM1-AS1 (G793S +8 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PITRM1, PITRM1-AS1 (V431M +8 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | PITRM1, PITRM1-AS1 (N766H +8 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PITRM1, PITRM1-AS1 (P764L +8 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PITRM1, PITRM1-AS1 (H421N +8 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | PITRM1, PITRM1-AS1 (R379H +8 more) | Single nucleotide variant (non-coding transcript variant +1 more) | PITRM1-related disorder | |
| | PITRM1, PITRM1-AS1 (R379C +8 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | PITRM1, PITRM1-AS1 (V739A +8 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | PITRM1, PITRM1-AS1 (R375W +8 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | PITRM1, PITRM1-AS1 (K373fs +8 more) | Deletion (non-coding transcript variant +1 more) | not provided | |
| | PITRM1, PITRM1-AS1 (K373R +8 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | PITRM1, PITRM1-AS1 (K808R +8 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Irido-corneo-trabecular dysgenesis | |