ClinVar Miner

List of variants in gene SLC5A6 reported as likely pathogenic for motor peripheral neuropathy

Included ClinVar conditions (26):

Amyotrophic lateral sclerosis type 5; Charcot-Marie-Tooth disease axonal type 2C; Charcot-Marie-Tooth disease axonal type 2X
Brachyrachia (short spine dysplasia); Familial digital arthropathy-brachydactyly; Metatropic dysplasia; Parastremmatic dwarfism; Spondylometaphyseal dysplasia, Kozlowski type; Spondyloepimetaphyseal dysplasia, Maroteaux type; Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Sodium serum level quantitative trait locus 1; Charcot-Marie-Tooth disease axonal type 2C; Avascular necrosis of femoral head, primary, 2
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease type 2A1; Charcot-Marie-Tooth disease, type 2A; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease type 2A2; Hereditary motor and sensory neuropathy with optic atrophy; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Charcot-Marie-Tooth disease type 2A2; Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4G; Hemolytic anemia due to hexokinase deficiency; Retinitis pigmentosa 79
Charcot-Marie-Tooth disease type 4G; Hemolytic anemia due to hexokinase deficiency; Retinitis pigmentosa 79; Neurodevelopmental disorder with visual defects and brain anomalies
Charcot-Marie-Tooth disease type 4G; Neurodevelopmental disorder with visual defects and brain anomalies
Charcot-Marie-Tooth disease type 5
Global developmental delay; Motor polyneuropathy; Aplasia/Hypoplasia of the cerebellum
Hereditary motor and sensory neuropathy with optic atrophy
Hereditary motor and sensory neuropathy with optic atrophy; Charcot-Marie-Tooth disease, type 2A
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57
Neuronopathy, distal hereditary motor, autosomal dominant 8; Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Charcot-Marie-Tooth disease axonal type 2C; TRPV4-related bone disorder
Neuropathy, hereditary motor and sensory, type 6A
Neuropathy, hereditary motor and sensory, type 6B
Neuropathy, hereditary motor and sensory, type 6B; Pontocerebellar hypoplasia, type 1E
Oligohydramnios; Premature birth; Small for gestational age; Birth length less than 3rd percentile; Motor polyneuropathy; Interosseus muscle atrophy; Mixed demyelinating and axonal polyneuropathy; Progressive pes cavus
Peripheral motor neuropathy, childhood-onset, biotin-responsive
Sensorineural hearing loss disorder; Progressive sensorineural hearing impairment; Impaired vibration sensation in the lower limbs; EMG abnormality; Peripheral axonal neuropathy; EMG: axonal abnormality; Motor polyneuropathy; Peripheral 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_021095.4(SLC5A6):c.1865_1866del (p.Gln622fs)	rs774193816	0.00010
NM_021095.4(SLC5A6):c.1285A>G (p.Ser429Gly)	rs2147992303

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