| | | Deletion | Polyglucosan body myopathy type 1 | |
| | | Deletion | Polyglucosan body myopathy type 1 | |
| | | Deletion | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Duplication (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (nonsense +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Polyglucosan body myopathy type 1 | |
| | | Duplication (frameshift variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Insertion (frameshift variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Duplication | Polyglucosan body myopathy type 1 | |
| | | Duplication | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Duplication (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |