| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (intron variant) | RBCK1-related condition | |
| | | Single nucleotide variant (synonymous variant +2 more) | RBCK1-related condition | |
| | SLC24A3, SLC4A11 +164 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | 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 | |
| | | Copy number gain | not provided | |
| | ANGPT4, C20orf202 +31 more | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion | not provided | |
| | C20orf202, ZCCHC3 +35 more | Deletion | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Copy number gain | Renal agenesis | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Insertion (frameshift variant +1 more) | Polyglucosan body myopathy type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Duplication (frameshift variant +1 more) | Inborn genetic diseases | |
| | | 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 | |