ClinVar Miner

List of variants in gene NTRK1, SH2D2A studied for hereditary sensory and autonomic neuropathy

Included ClinVar conditions (47):

Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Charcot-Marie-Tooth disease X-linked recessive 4; Deafness, X-linked 5; Severe X-linked mitochondrial encephalomyopathy
Charcot-Marie-Tooth disease X-linked recessive 4; Deafness, X-linked 5; Spondyloepimetaphyseal dysplasia, Bieganski type; Severe X-linked mitochondrial encephalomyopathy
Cold-induced sweating syndrome
Cold-induced sweating syndrome 1
Cold-induced sweating syndrome 2
Congenital insensitivity to pain-hypohidrosis syndrome
Congenital sensory neuropathy with selective loss of small myelinated fibers
Deafness, X-linked 5
Hereditary insensitivity to pain with anhidrosis
Hereditary insensitivity to pain with anhidrosis; Familial medullary thyroid carcinoma
Hereditary sensory and autonomic neuropathy
Hereditary sensory and autonomic neuropathy type 1
Hereditary sensory and autonomic neuropathy type 2
Hereditary sensory and autonomic neuropathy type 6
Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
Hereditary sensory and autonomic neuropathy type 7
Hereditary sensory and autonomic neuropathy type 7; Familial episodic pain syndrome with predominantly lower limb involvement
Hereditary sensory neuropathy-deafness-dementia syndrome
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9; Spastic paraplegia 30b, autosomal recessive
Hereditary spastic paraplegia 3A; Neuropathy, hereditary sensory, type 1D
Neuropathy, hereditary sensory and autonomic, type 1A
Neuropathy, hereditary sensory and autonomic, type 1A; Amyotrophic lateral sclerosis 27, juvenile
Neuropathy, hereditary sensory and autonomic, type 1C
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory and autonomic, type 2A; Neuropathy, hereditary sensory and autonomic, type 2B
Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2B
Neuropathy, hereditary sensory, type 1D
Neuropathy, hereditary sensory, type 1F
Neuropathy, hereditary sensory, type 2C
PERCHING syndrome
PERCHING syndrome; Bohring-Opitz-like syndrome
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Generalized epilepsy with febrile seizures plus
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7
Retinitis pigmentosa 42; PERCHING syndrome
Retinitis pigmentosa; Hereditary sensory and autonomic neuropathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001007792.1(NTRK1):c.9+149G>A	rs1800600	0.64949
NM_001007792.1(NTRK1):c.9+141A>G	rs7546838	0.58984
NM_003975.4(SH2D2A):c.123+181C>T	rs1800601

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