ClinVar Miner

List of variants in gene ATL1 reported as benign for hereditary sensory and autonomic neuropathy

Included ClinVar conditions (44):

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 3A; Neuropathy, hereditary sensory, type 1D
Neuropathy, hereditary sensory and autonomic, type 1A
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; 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_015915.5(ATL1):c.351G>A (p.Glu117=)	rs1060197	0.79691
NM_015915.5(ATL1):c.630+105G>A	rs10131107	0.49391
NM_015915.5(ATL1):c.1119+136_1119+137insAT	rs10626021	0.48669
NM_015915.5(ATL1):c.84A>G (p.Pro28=)	rs35014209	0.18809
NM_015915.5(ATL1):c.630+7G>A	rs3759588	0.17660
NM_015915.5(ATL1):c.705C>T (p.Phe235=)	rs35044504	0.02457
NM_015915.5(ATL1):c.35-14G>A	rs115722924	0.00906
NM_015915.5(ATL1):c.693T>C (p.Gly231=)	rs139720661	0.00790
NM_015915.5(ATL1):c.*305T>C	rs2291674	0.00541
NM_015915.5(ATL1):c.1230G>A (p.Gly410=)	rs148548325	0.00531
NM_015915.5(ATL1):c.621G>A (p.Lys207=)	rs35629585	0.00263
NM_015915.5(ATL1):c.669C>T (p.Tyr223=)	rs146975855	0.00059
NM_015915.5(ATL1):c.408T>C (p.Asp136=)	rs76375909	0.00041
NM_015915.5(ATL1):c.991-6T>G	rs192428744	0.00016
NM_015915.5(ATL1):c.306C>A (p.Asp102Glu)	rs145204580	0.00010
NM_015915.5(ATL1):c.417+3A>G	rs200310890	0.00009
NM_015915.5(ATL1):c.1635A>G (p.Pro545=)	rs191729308	0.00006
NM_015915.5(ATL1):c.570C>G (p.Leu190=)	rs202173614	0.00004
NM_015915.5(ATL1):c.921C>T (p.Pro307=)	rs535790981	0.00001
NM_015915.5(ATL1):c.1552-24_1552-20del	rs202061961
NM_015915.5(ATL1):c.1552-68_1552-67insATA	rs3080581
NM_015915.5(ATL1):c.418-19G>T	rs2934684
NM_015915.5(ATL1):c.991-3dup	rs753642042

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