ClinVar Miner

List of variants reported as uncertain significance for motor peripheral neuropathy by Baylor Genetics

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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_014874.4(MFN2):c.1253G>A (p.Arg418Gln)	rs766998571	0.00001
NM_000188.3(HK1):c.1871dup (p.Ala625fs)	rs754451671
NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys)	rs2100849130
NM_014874.4(MFN2):c.176-3C>T	rs975369655
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
NM_138773.4(SLC25A46):c.389A>C (p.Asn130Thr)	rs1007822688

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