| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Indel (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Indel (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Duplication (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (stop lost) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Indel (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Indel (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Duplication (frameshift variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | DNAJB6-related disorder +1 more | |
| | | Copy number loss | Holoprosencephaly 3 | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Duplication | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Duplication | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Deletion | not provided | |
| | | Duplication (inframe_insertion) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |