| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ARSG, PRKAR1A (G435E +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARSG, PRKAR1A (A436V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | ARSG, PRKAR1A (A439T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARSG, PRKAR1A (A438V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ARSG, PRKAR1A (S442fs +1 more) | Deletion (frameshift variant +1 more) | not provided | |
| | ARSG, PRKAR1A (T443A +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARSG, PRKAR1A (T443M +1 more) | 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 | |
| | ARSG, PRKAR1A (E447G +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARSG, PRKAR1A (L447P +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARSG, PRKAR1A (K450E +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARSG, PRKAR1A (K450fs +1 more) | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ARSG, PRKAR1A (N457fs +1 more) | Duplication (frameshift variant +1 more) | not provided | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | PRKAR1A, ARSG (D460N +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PRKAR1A, ARSG (T461I +1 more) | 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 | |
| | ARSG, PRKAR1A (E469G +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARSG, PRKAR1A (G472fs +1 more) | Deletion (frameshift variant +1 more) | not provided | |
| | ARSG, PRKAR1A (G470D +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | ARSG, PRKAR1A (G472D +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PRKAR1A, ARSG (A472V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ARSG, PRKAR1A (A477P +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARSG, PRKAR1A (P479S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ARSG, PRKAR1A (E481K +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARSG, PRKAR1A (R483I +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARSG, PRKAR1A (K484N +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ARSG, PRKAR1A (V488I +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ARSG, PRKAR1A (I492T +1 more) | Single nucleotide variant (missense variant +1 more) | ARSG-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | PRKAR1A, ARSG (D495N +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARSG, PRKAR1A (N496T +1 more) | 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 | |
| | ARSG, PRKAR1A (A500T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ARSG, PRKAR1A (Q504fs +1 more) | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ARSG, PRKAR1A (D505N +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARSG, PRKAR1A (D506E +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARSG, PRKAR1A (P507T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARSG, PRKAR1A (Y515fs +1 more) | Deletion (frameshift variant +1 more) | not provided | |
| | ARSG, PRKAR1A (I518fs +1 more) | Deletion (frameshift variant +1 more) | not provided | |
| | ARSG, PRKAR1A (Q517P +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ARSG, PRKAR1A (C520* +1 more) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | ARSG, PRKAR1A (R521C +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARSG, PRKAR1A (R520H +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PRKAR1A, ARSG (C522R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ARSG, PRKAR1A (A525P +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARSG, PRKAR1A (A524V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | ARSG-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC129390924, LOC129390925 +59 more | Copy number loss | See cases | |
| | ARSG, PRKAR1A +1 more (G441D +1 more) | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | ARSG, PRKAR1A +1 more (R407Q +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 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ARSG, PRKAR1A +1 more (T313M +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | WIPI1-related disorder | |
| | ARSG, PRKAR1A +1 more (T283R +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 (G267E +1 more) | Single nucleotide variant (3 prime UTR variant +3 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 (R246Q +1 more) | Single nucleotide variant (3 prime UTR variant +3 more) | Neural tube defect | |
| | ARSG, PRKAR1A +1 more (I317N +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | WIPI1, ARSG +1 more (R308H +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | ARSG, PRKAR1A +1 more (R226C +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 (M215V +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 (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 | |
| | ARSG, PRKAR1A +1 more (E254K +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (S159N +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (M147I +1 more) | Single nucleotide variant (missense variant +2 more) | WIPI1-related disorder | |
| | ARSG, PRKAR1A +1 more (P217A +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (E206K +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ARSG, PRKAR1A +1 more (E104K +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 (R28W +1 more) | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | ARSG, PRKAR1A +1 more (R81Q) | Single nucleotide variant (3 prime UTR variant +4 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +4 more) | not provided | |