ClinVar Miner

List of variants in gene ANO5 reported as pathogenic for creatine phosphokinase, elevated serum

Included ClinVar conditions (12):

Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration; Atrial septal defect
Elevated circulating creatine kinase concentration; Distal muscle weakness; Fatty replacement of skeletal muscle
Elevated circulating creatine kinase concentration; Dystonic disorder; Global developmental delay; Abnormal female external genitalia morphology; Oculomotor apraxia; Orofacial dyskinesia; Abnormal globus pallidus morphology; Involuntary movements; Hypoplastic female external genitalia; Rhabdomyolysis
Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type
Elevated circulating creatine kinase concentration; Lower limb muscle weakness; Distal lower limb amyotrophy
Elevated circulating creatine kinase concentration; Migraine; Difficulty walking; Positive Romberg sign; Paresthesia; EMG: neuropathic changes; Progressive spinal muscular atrophy; Absent muscle fiber calpain-3
Elevated circulating creatine kinase concentration; Muscle weakness; Ptosis; Hypomimic face; Hepatic steatosis; EMG abnormality; EMG: myopathic abnormalities; EMG: myotonic runs; Progressive proximal muscle weakness
Elevated circulating creatine kinase concentration; Myalgia; Exercise-induced myalgia
Elevated circulating creatine kinase concentration; Polycystic kidney disease; Achilles tendon contracture; Lower limb amyotrophy; Lower limb muscle weakness
Elevated circulating creatine kinase concentration; Progressive proximal muscle weakness
Elevated circulating creatine kinase concentration; Sensory neuropathy; Polyneuropathy; Elevated circulating alkaline phosphatase concentration; Peripheral axonal neuropathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)	rs375014127	0.00015
NM_213599.3(ANO5):c.191dup (p.Asn64fs)	rs137854521

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