BVES Chromosome 6
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What This Gene Does
"CLNSIG=4
Associated Conditions (1)
Autosomal recessive limb-girdle muscular dystrophy type 2X
Key Variants
RS759745220
Likely pathogenic
Health Risk
RS869025337
Likely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X
Health Risk
RS1332603843
Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X
Health Risk
RS1562133291
Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X
Health Risk
RS2114489353
Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS759745220 | Health Risk | Likely pathogenic | — |
| RS869025337 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X |
| RS1332603843 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X |
| RS1562133291 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X |
| RS2114489353 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X |