ANO5 Chromosome 11
Anoctamin 5
Upload your DNA to see your personal genotypes for variants in ANO5.
What This Gene Does
This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
Anoctamins
Locus Type
gene with protein product
Location
11p14.3
Ensembl
ENSG00000171714
Associated Conditions (29)
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Inborn genetic diseases
ANO5-related disorder
Miyoshi muscular dystrophy 3
ANO5-Related Muscle Diseases
Clear cell carcinoma of kidney
Thyroid cancer
nonmedullary
1
Intellectual disability
Autosomal recessive limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy
Myopathy
Fatty replacement of skeletal muscle
Distal muscle weakness
Elevated circulating creatine kinase concentration
Muscular dystrophy
Polycystic kidney disease
Achilles tendon contracture
+9 more conditions
Key Variants
RS1010958758
Conflicting classifications of pathogenicity
Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Inborn genetic diseases
Health Risk
RS1029543909
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
Health Risk
RS1257688225
Conflicting classifications of pathogenicity
Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
Health Risk
RS1323349209
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Miyoshi muscular dystrophy 3
Health Risk
RS139259793
Conflicting classifications of pathogenicity
Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
Health Risk
RS140903276
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, ANO5-Related Muscle Diseases
Health Risk
RS1410381664
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
Health Risk
RS141799673
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Intellectual disability
Health Risk
RS142073798
Conflicting classifications of pathogenicity
Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, ANO5-related disorder
Health Risk
RS142126223
Conflicting classifications of pathogenicity
ANO5-Related Muscle Diseases, ANO5-Related Muscle Diseases
Health Risk
RS142858990
Conflicting classifications of pathogenicity
Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, ANO5-Related Muscle Diseases
Health Risk
RS143331003
Conflicting classifications of pathogenicity
Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
Health Risk
All Variants (237)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1010958758 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Inborn genetic diseases |
| RS1029543909 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1257688225 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS1323349209 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Miyoshi muscular dystrophy 3 |
| RS139259793 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS140903276 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, ANO5-Related Muscle Diseases |
| RS1410381664 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS141799673 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Intellectual disability |
| RS142073798 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, ANO5-related disorder |
| RS142126223 | Health Risk | Conflicting classifications of pathogenicity | ANO5-Related Muscle Diseases, ANO5-Related Muscle Diseases |
| RS142858990 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, ANO5-Related Muscle Diseases |
| RS143331003 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS143777403 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, ANO5-Related Muscle Diseases |
| RS143977836 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS144048656 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, ANO5-Related Muscle Diseases |
| RS144159801 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS145219772 | Health Risk | Conflicting classifications of pathogenicity | ANO5-Related Muscle Diseases, ANO5-Related Muscle Diseases |
| RS147121216 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, ANO5-Related Muscle Diseases |
| RS1472414854 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Miyoshi muscular dystrophy 3 |
| RS148293985 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, ANO5-Related Muscle Diseases |
| RS148516756 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, ANO5-related disorder |
| RS148698633 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS1490746741 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS151022897 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS1554935116 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1564941781 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1564944168 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1852872996 | Health Risk | Conflicting classifications of pathogenicity | Limb-girdle muscular dystrophy, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS186533442 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS187595147 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS199888040 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, ANO5-Related Muscle Diseases |
| RS200631556 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, ANO5-Related Muscle Diseases |
| RS201678262 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS202034123 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, ANO5-Related Muscle Diseases |
| RS2133747827 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Inborn genetic diseases |
| RS2494716427 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS267602823 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS281865467 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS34969327 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS34994927 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, ANO5-Related Muscle Diseases |
| RS368857740 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, ANO5-related disorder |
| RS369058382 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS369103376 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS370084681 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS375014127 | Health Risk | Conflicting classifications of pathogenicity | Myopathy, Fatty replacement of skeletal muscle, Distal muscle weakness |
| RS377549896 | Health Risk | Conflicting classifications of pathogenicity | ANO5-Related Muscle Diseases, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS377553546 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS398124624 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS527322470 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS529961953 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |