| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | A-GAMMA3'E, ANO9 +388 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130005164, LOC130005165 +332 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Thalassemia, gamma-delta-beta | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (5 prime UTR variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (5 prime UTR variant) | Neutral lipid storage myopathy | |
| | | 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) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (5 prime UTR variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (5 prime UTR variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (5 prime UTR variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (R4C) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (R4H) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (W8*) | Single nucleotide variant (nonsense) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy +1 more | |
| | LOC130005097, PNPLA2 (S11L) | Single nucleotide variant (missense variant) | Abnormality of the musculature | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | GConflicting classifications of pathogenicity |
| | LOC130005097, PNPLA2 (G14S) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC130005097, PNPLA2 (C15S) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (C15*) | Single nucleotide variant (nonsense) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (L18F) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (G19R) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (Y21C) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (Y21*) | Single nucleotide variant (nonsense) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (G24C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (V25A) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (A26T) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (A26V) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy +1 more | |
| | LOC130005097, PNPLA2 (S27F) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (L29F) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (R30C) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | LOC130005097, PNPLA2 (E31*) | 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 | |
| | LOC130005097, PNPLA2 (T41K) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (I43V) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC130005097, PNPLA2 (I43S) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (Y44C) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (A53T) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (T54R) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (V60I) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | LOC130005097, PNPLA2 (C61F) | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (splice donor variant) | Neutral lipid storage myopathy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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 | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Insertion (nonsense) | 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 | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | GConflicting classifications of pathogenicity |
| | | 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 +1 more | |
| | | 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 (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 (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Indel (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | Neutral lipid storage myopathy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |