| | LOC130065401, LOC130065402 +348 more | Copy number gain | See cases | |
| | ANGPT4, C20orf202 +76 more | Copy number loss | See cases | |
| | ANGPT4, C20orf202 +76 more | Copy number loss | See cases | |
| | C20orf96, CSNK2A1 +51 more | Copy number gain | See cases | |
| | LOC130065344, LOC130065345 +455 more | Copy number gain | See cases | |
| | LOC129456123, LOC130065248 +833 more | Copy number gain | See cases | |
| | ANGPT4, C20orf202 +103 more | Copy number loss | See cases | |
| | LOC112694699, LOC112694712 +306 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC114004355, LOC116286198 +347 more | Copy number gain | See cases | |
| | | Copy number gain | Renal agenesis | |
| | ANGPT4, C20orf202 +104 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ANGPT4, C20orf202 +76 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANGPT4, C20orf202 +102 more | Copy number loss | See cases | |
| | LOC129391148, LOC129391149 +110 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065324, LOC130065325 +581 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANGPT4, C20orf202 +87 more | Copy number loss | See cases | |
| | ANGPT4, C20orf202 +104 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | C20orf96, DEFB126 +34 more | Copy number gain | See cases | |
| | ANGPT4, C20orf202 +120 more | Copy number loss | See cases | |
| | ANGPT4, C20orf202 +100 more | Copy number gain | See cases | |
| | CSNK2A1, LOC116286198 +29 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Duplication | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Polyglucosan body myopathy type 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | 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 (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Deletion (5 prime UTR variant +3 more) | Polyglucosan body myopathy 1 with immunodeficiency | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | 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 (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Microsatellite (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | 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 (5 prime UTR 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 (5 prime UTR 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 (5 prime UTR 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 (5 prime UTR 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 (5 prime UTR variant +2 more) | Polyglucosan body myopathy type 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (5 prime UTR 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 (5 prime UTR 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 (5 prime UTR 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 (5 prime UTR 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 (5 prime UTR 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 (5 prime UTR variant +2 more) | Polyglucosan body myopathy type 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases +1 more | |
| | | Microsatellite (splice donor variant) | Polyglucosan body myopathy type 1 | |