| | | Copy number loss | See cases | |
| | ANO5, LOC126861160 +10 more | Copy number loss | See cases | |
| | LOC126861164, LOC126861165 +49 more | Copy number gain | See cases | |
| | ANO5, LOC130005437 +6 more | Copy number loss | See cases | |
| | ANO5, LOC130005437 +6 more | Copy number gain | See cases | |
| | ANO5, LOC126861161 +9 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ANO5, LOC126861161 +8 more | Copy number gain | See cases | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Miyoshi myopathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | ANO5-Related Muscle Diseases | |
| | | Single nucleotide variant (5 prime UTR variant) | ANO5-Related Muscle Diseases +6 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Limb-girdle muscular dystrophy, recessive +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | ANO5-Related Muscle Diseases | |
| | | Single nucleotide variant (5 prime UTR variant) | Limb-girdle muscular dystrophy, recessive +2 more | |
| | | Microsatellite (5 prime UTR variant) | Gnathodiaphyseal dysplasia +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Limb-girdle muscular dystrophy, recessive +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Miyoshi muscular dystrophy 3 +7 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Limb-girdle muscular dystrophy, recessive +2 more | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more | |
| | | Single nucleotide variant (synonymous variant) | Gnathodiaphyseal dysplasia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more | |
| | | Single nucleotide variant (nonsense) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more | |
| | | Single nucleotide variant (synonymous variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more | |
| | | Single nucleotide variant (intron variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more | |
| | | Single nucleotide variant (intron variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Indel (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more | |
| | | Single nucleotide variant (intron variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | See cases | |
| | | Microsatellite (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Limb-girdle muscular dystrophy, recessive +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | 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) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | ANO5-Related Muscle Diseases +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Microsatellite (frameshift variant) | Gnathodiaphyseal dysplasia +2 more | |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more | |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more | |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Limb-girdle muscular dystrophy, recessive +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | ANO5-Related Muscle Diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Deletion (intron variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Deletion (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more | |
| | | Single nucleotide variant (intron variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |