| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cataplexy and narcolepsy | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | LOC113939967, P2RY11 +1 more (A488D) | Single nucleotide variant (synonymous variant +1 more) | PPAN-P2RY11-related condition +1 more | |
| | LOC113939967, P2RY11 +1 more (H501R) | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC113939967, P2RY11 +1 more (P505L) | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases | |
| | LOC113939967, P2RY11 +1 more (S507F) | Single nucleotide variant (synonymous variant +1 more) | PPAN-P2RY11-related condition | |
| | LOC113939967, P2RY11 +1 more (S507Y) | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC113939967, P2RY11 +1 more (S510Y) | Single nucleotide variant (synonymous variant +1 more) | P2RY11-related condition | |
| | LOC113939967, P2RY11 +1 more (A519V) | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC113939967, P2RY11 +1 more (P504S +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC113939967, P2RY11 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC113939967, P2RY11 +1 more (A507T +1 more) | Single nucleotide variant (missense variant +1 more) | P2RY11-related condition | |
| | P2RY11, PPAN-P2RY11 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC113939967, P2RY11 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC113939967, P2RY11 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | PPAN-P2RY11, P2RY11 (A157V +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | P2RY11, PPAN-P2RY11 (S166G +1 more) | Single nucleotide variant (missense variant +1 more) | P2RY11-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | P2RY11-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | P2RY11-related condition | |
| | | 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) | PPAN-P2RY11-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | P2RY11, PPAN-P2RY11 (Y681C +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | P2RY11, PPAN-P2RY11 (V272M +1 more) | Single nucleotide variant (missense variant +1 more) | PPAN-P2RY11-related condition | |
| | P2RY11, PPAN-P2RY11 (R696W +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | P2RY11-related condition +1 more | |
| | P2RY11, PPAN-P2RY11 (Y300* +1 more) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | PPAN-P2RY11-related condition | |
| | P2RY11, PPAN-P2RY11 (D340G +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | P2RY11, PPAN-P2RY11 (S349N +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 | |
| | | Single nucleotide variant (intron variant) | Cataplexy and narcolepsy | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |