| | ARSG, PRKAR1A +1 more (S159N +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (R65H) | Single nucleotide variant (3 prime UTR variant +4 more) | not specified | |
| | ARSG, PRKAR1A +1 more (R81Q) | Single nucleotide variant (3 prime UTR variant +4 more) | not specified | |
| | ARSG, PRKAR1A +1 more (M215V +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (G267R +1 more) | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | ARSG, PRKAR1A +1 more (R28W +1 more) | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | ARSG, PRKAR1A +1 more (E104K +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (V63M) | Single nucleotide variant (3 prime UTR variant +4 more) | not specified | |
| | ARSG, PRKAR1A +1 more (D59Y) | Single nucleotide variant (3 prime UTR variant +4 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (G441D +1 more) | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | ARSG, PRKAR1A +1 more (T283R +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | WIPI1-related disorder | |
| | ARSG, PRKAR1A +1 more (M147I +1 more) | Single nucleotide variant (missense variant +2 more) | WIPI1-related disorder | |
| | ARSG, PRKAR1A +1 more (R407Q +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (F201L +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (I317N +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (A323V +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (A76V +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (T313M +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (E254K +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (H275Y +1 more) | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | ARSG, PRKAR1A +1 more (Y278N +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (T183A +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | PRKAR1A, WIPI1 +1 more (G267E +1 more) | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | ARSG, PRKAR1A +1 more (E206K +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (T224I +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (P217A +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (R226C +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +4 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ARSG, PRKAR1A +1 more (R308H +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ARSG, PRKAR1A +1 more (R246Q +1 more) | Single nucleotide variant (3 prime UTR variant +3 more) | Neural tube defect | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ALOX12, ALOX12B +1143 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129390924, LOC129390925 +59 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |