| | LOC130005097, PNPLA2 (E31*) | Single nucleotide variant (nonsense) | Neutral lipid storage myopathy | |
| | | Deletion | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (A26T) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (C61F) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Duplication (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Deletion (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (C15*) | Single nucleotide variant (nonsense) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Deletion (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (Y21*) | Single nucleotide variant (nonsense) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | | Insertion (nonsense) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Deletion (inframe_deletion) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Deletion (frameshift variant) | Neutral lipid storage myopathy | |
| | | Deletion | Neutral lipid storage myopathy | |
| | | Duplication | Neutral lipid storage myopathy | |
| | | Microsatellite (intron variant) | Neutral lipid storage myopathy | |
| | | Duplication (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC130005097, PNPLA2 (Y44C) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (I43V) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (R30C) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | | Deletion (inframe_deletion) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |