| | | Copy number loss | See cases | |
| | ADAM19, ADAMTS2 +1166 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion (genic upstream transcript variant) | Large for gestational age +1 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Deletion (genic upstream transcript variant) | Dilated cardiomyopathy 1L +2 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | Qualitative or quantitative defects of delta-sarcoglycan +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (genic upstream transcript variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (genic upstream transcript variant) | Limb-girdle muscular dystrophy, recessive +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (genic upstream transcript variant) | Qualitative or quantitative defects of delta-sarcoglycan | |
| | | Single nucleotide variant (genic upstream transcript variant) | Dilated cardiomyopathy 1L +5 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided +5 more | |
| | | Deletion (genic upstream transcript variant) | not specified | |
| | | Duplication (genic upstream transcript variant) | Dilated cardiomyopathy 1L +1 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | Dilated cardiomyopathy 1L +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +5 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Dilated cardiomyopathy 1L +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (splice donor variant) | Dilated cardiomyopathy 1L +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dilated cardiomyopathy 1L +1 more | |
| | | Single nucleotide variant (splice donor variant) | Dilated cardiomyopathy 1L +1 more | |
| | | Single nucleotide variant (splice donor variant) | Dilated cardiomyopathy 1L +1 more | |
| | | Single nucleotide variant (splice donor variant) | Dilated cardiomyopathy 1L +1 more | |
| | | Single nucleotide variant (splice donor variant) | Dilated cardiomyopathy 1L +1 more | |
| | | Deletion (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Qualitative or quantitative defects of delta-sarcoglycan +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Dilated cardiomyopathy 1L +1 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (splice donor variant +1 more) | Dilated cardiomyopathy 1L +1 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Dilated cardiomyopathy 1L +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | SGCD-related disorder | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1L +2 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Deletion (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (intron variant) | not specified +2 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) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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 2F | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1L +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Deletion (frameshift variant) | Dilated cardiomyopathy 1L | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (missense variant) | Qualitative or quantitative defects of delta-sarcoglycan +6 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F +4 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |