| | | Copy number gain | See cases | |
| | CLEC12A, CLEC12A-AS1 +1258 more | Copy number gain | See cases | |
| | LOC126861410, LOC126861411 +1258 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007230, LOC130007231 +1257 more | Copy number gain | See cases | |
| | LOC130008916, LOC130008917 +4836 more | Copy number gain | See cases | |
| | LOC126861494, LOC126861495 +1257 more | Copy number gain | See cases | |
| | CACNA1C-AS2, CACNA1C-AS4 +1242 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion (5 prime UTR variant) | Rotor syndrome +1 more | |
| | | Deletion (5 prime UTR variant) | not provided +1 more | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (D2N) | Single nucleotide variant (missense variant) | not specified | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (H4R) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (K9T) | Single nucleotide variant (missense variant) | Rotor syndrome | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (R23C) | Single nucleotide variant (missense variant) | Rotor syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (K28T) | Single nucleotide variant (missense variant) | Rotor syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (A5T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Rotor syndrome | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (F36L +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (G16S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (M20T +1 more) | Single nucleotide variant (missense variant) | SLCO1B3-related disorder | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (K21N +1 more) | Single nucleotide variant (missense variant) | Rotor syndrome | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (I22V +1 more) | Single nucleotide variant (missense variant) | Rotor syndrome | |
| | | Single nucleotide variant (synonymous variant) | SLCO1B3-related disorder | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (I52V +1 more) | Single nucleotide variant (missense variant) | Rotor syndrome +2 more | GConflicting classifications of pathogenicity |
| | SLCO1B3, SLCO1B3-SLCO1B7 (R29fs +1 more) | Deletion (frameshift variant) | Rotor syndrome | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (F59S +1 more) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (L40fs +1 more) | Duplication (frameshift variant) | Rotor syndrome | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (D70fs +1 more) | Duplication (frameshift variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | SLCO1B3-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126861478, SLCO1B1 +3 more | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (G48V +1 more) | Single nucleotide variant (missense variant) | Rotor syndrome | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (G60V +1 more) | Single nucleotide variant (missense variant) | Rotor syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | SLCO1B3-related disorder +1 more | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (H64R +1 more) | Single nucleotide variant (missense variant) | Rotor syndrome | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (I69fs +1 more) | Deletion (frameshift variant) | Rotor syndrome | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (G98R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | SLCO1B3-related disorder | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (S112A +1 more) | Single nucleotide variant (missense variant) | Rotor syndrome +2 more | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (S112Y +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | SLCO1B3-related disorder | |
| | | Single nucleotide variant (intron variant) | 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 (intron variant) | not provided | |
| | | Deletion (splice acceptor variant) | Rotor syndrome | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (S107L +1 more) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (S138I +1 more) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (N145fs +1 more) | Microsatellite (frameshift variant) | Rotor syndrome | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (N117S +1 more) | Single nucleotide variant (missense variant) | SLCO1B3-related disorder +1 more | GConflicting classifications of pathogenicity |
| | SLCO1B3, SLCO1B3-SLCO1B7 (T147A +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (S121del +1 more) | Deletion (inframe_deletion) | Rotor syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Rotor syndrome | GConflicting classifications of pathogenicity |
| | SLCO1B3, SLCO1B3-SLCO1B7 (I157M +1 more) | Single nucleotide variant (missense variant) | Rotor syndrome | |
| | | Single nucleotide variant (intron variant) | Rotor syndrome | |
| | | Single nucleotide variant (intron variant) | Rotor syndrome | |
| | | Deletion (intron variant) | Rotor syndrome | |
| | | Single nucleotide variant (intron variant) | 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 (intron variant) | 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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | SLCO1B3-related disorder | |
| | | Single nucleotide variant (intron variant) | SLCO1B3-related disorder | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (C162G +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | SLCO1B3, SLCO1B3-SLCO1B7 (C134Y +1 more) | Single nucleotide variant (missense variant) | SLCO1B3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SLCO1B3-related disorder | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (Y173C +1 more) | Single nucleotide variant (missense variant) | Rotor syndrome | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (M151I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (R153C +1 more) | Single nucleotide variant (missense variant) | Rotor syndrome | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (R181H +1 more) | Single nucleotide variant (missense variant) | SLCO1B3-related disorder +2 more | GConflicting classifications of pathogenicity |
| | SLCO1B3, SLCO1B3-SLCO1B7 (T186N +1 more) | Single nucleotide variant (missense variant) | Rotor syndrome | |
| | SLCO1B3-SLCO1B7, SLCO1B3 (P159R +1 more) | Single nucleotide variant (missense variant) | Rotor syndrome | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (I168T +1 more) | Single nucleotide variant (missense variant) | Rotor syndrome | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (D198N +1 more) | Single nucleotide variant (missense variant) | SLCO1B3-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | Rotor syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (I215M +1 more) | Single nucleotide variant (missense variant) | SLCO1B3-related disorder +1 more | GConflicting classifications of pathogenicity |
| | SLCO1B3, SLCO1B3-SLCO1B7 (G188R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (G188V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (L198M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (L226V +1 more) | Single nucleotide variant (missense variant) | Rotor syndrome | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (S200Y +1 more) | Single nucleotide variant (missense variant) | Rotor syndrome | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (M233L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | SLCO1B3, SLCO1B3-SLCO1B7 (M233I +1 more) | Single nucleotide variant (missense variant) | Rotor syndrome +2 more | |