CHRNB1 (cholinergic receptor nicotinic beta 1 subunit) - Rat Genome Database

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Gene: CHRNB1 (cholinergic receptor nicotinic beta 1 subunit) Homo sapiens
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Symbol: CHRNB1
Name: cholinergic receptor nicotinic beta 1 subunit
RGD ID: 733898
HGNC Page HGNC:1961
Description: Enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential. Contributes to acetylcholine receptor activity. Involved in several processes, including behavioral response to nicotine; chemical synaptic transmission; and postsynaptic membrane organization. Located in synapse. Part of acetylcholine-gated channel complex. Is active in neuromuscular junction. Implicated in congenital myasthenic syndrome 2A and congenital myasthenic syndrome 2C.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: acetylcholine receptor subunit beta; acetylcholine receptor, nicotinic, beta 1 (muscle); ACHRB; cholinergic receptor, nicotinic beta 1; cholinergic receptor, nicotinic, beta 1 (muscle); cholinergic receptor, nicotinic, beta polypeptide 1 (muscle); CHRNB; CMS1D; CMS2A; CMS2C; FLJ57107; SCCMS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,445,061 - 7,457,710 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,445,061 - 7,457,710 (+)EnsemblGRCh38hg38GRCh38
GRCh37177,348,380 - 7,361,029 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,289,130 - 7,301,656 (+)NCBINCBI36Build 36hg18NCBI36
Build 34177,289,129 - 7,301,656NCBI
Celera177,374,294 - 7,386,883 (+)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef177,242,351 - 7,254,625 (+)NCBIHuRef
CHM1_1177,357,504 - 7,370,035 (+)NCBICHM1_1
T2T-CHM13v2.0177,349,120 - 7,361,750 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal esophagus physiology  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of masticatory muscle  (IAGP)
Abnormality of the musculature of the upper limbs  (IAGP)
Abnormally high-pitched voice  (IAGP)
Ankle weakness  (IAGP)
Anti-neuromuscular Junction acetylcholine receptor antibody positivity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral conductive hearing impairment  (IAGP)
Congenital onset  (IAGP)
Cyanosis  (IAGP)
Decreased miniature endplate potentials  (IAGP)
Decreased size of nerve terminals  (IAGP)
Delayed ability to sit  (IAGP)
Delayed ability to walk  (IAGP)
Delayed gross motor development  (IAGP)
Diplopia  (IAGP)
Drowsiness  (IAGP)
Easy fatigability  (IAGP)
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Exertional dyspnea  (IAGP)
Facial palsy  (IAGP)
Fatigable weakness  (IAGP)
Fatigable weakness of neck muscles  (IAGP)
Fatigable weakness of respiratory muscles  (IAGP)
Feeding difficulties  (IAGP)
Flexion contracture  (IAGP)
High palate  (IAGP)
Hip flexor weakness  (IAGP)
Hypotonia  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Intellectual disability, mild  (IAGP)
Knee flexion contracture  (IAGP)
Limb muscle weakness  (IAGP)
Long face  (IAGP)
Muscle fiber splitting  (IAGP)
Muscle weakness  (IAGP)
Myopathy  (IAGP)
Narrow face  (IAGP)
Neck flexor weakness  (IAGP)
Neonatal hypotonia  (IAGP)
Ophthalmoparesis  (IAGP)
Ophthalmoplegia  (IAGP)
Orthopnea  (IAGP)
Pierre-Robin sequence  (IAGP)
Poor head control  (IAGP)
Poor suck  (IAGP)
Ptosis  (IAGP)
Reduced tendon reflexes  (IAGP)
Reduced vital capacity  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Restrictive ventilatory defect  (IAGP)
Scoliosis  (IAGP)
Shoulder girdle muscle weakness  (IAGP)
Skeletal muscle atrophy  (IAGP)
Thoracic kyphoscoliosis  (IAGP)
Triceps weakness  (IAGP)
Type 1 muscle fiber predominance  (IAGP)
Upper limb muscle weakness  (IAGP)
Weakness of long finger extensor muscles  (IAGP)
Weakness of the intrinsic hand muscles  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Mammalian nicotinic acetylcholine receptors: from structure to function. Albuquerque EX, etal., Physiol Rev. 2009 Jan;89(1):73-120. doi: 10.1152/physrev.00015.2008.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. The neuromuscular junction: selective remodeling of synaptic regulators at the nerve/muscle interface. Witzemann V, etal., Mech Dev. 2013 Jun-Aug;130(6-8):402-11. doi: 10.1016/j.mod.2012.09.004. Epub 2012 Sep 29.
Additional References at PubMed
PMID:887246   PMID:1397297   PMID:2221824   PMID:2740233   PMID:7531341   PMID:8651643   PMID:8872460   PMID:10562302   PMID:10662545   PMID:11104662   PMID:12477932   PMID:15489334  
PMID:16169070   PMID:16280586   PMID:16874522   PMID:17015027   PMID:17373692   PMID:18179903   PMID:19086053   PMID:19259974   PMID:19279256   PMID:19307444   PMID:20301347   PMID:20584212  
PMID:20734064   PMID:20736995   PMID:21873635   PMID:22406075   PMID:24240098   PMID:27375219   PMID:28153524   PMID:32296183   PMID:33296147   PMID:33961781   PMID:35969799  


Genomics

Comparative Map Data
CHRNB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,445,061 - 7,457,710 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,445,061 - 7,457,710 (+)EnsemblGRCh38hg38GRCh38
GRCh37177,348,380 - 7,361,029 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,289,130 - 7,301,656 (+)NCBINCBI36Build 36hg18NCBI36
Build 34177,289,129 - 7,301,656NCBI
Celera177,374,294 - 7,386,883 (+)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef177,242,351 - 7,254,625 (+)NCBIHuRef
CHM1_1177,357,504 - 7,370,035 (+)NCBICHM1_1
T2T-CHM13v2.0177,349,120 - 7,361,750 (+)NCBIT2T-CHM13v2.0
Chrnb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,674,862 - 69,686,742 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1169,674,862 - 69,686,769 (-)EnsemblGRCm39 Ensembl
GRCm381169,784,036 - 69,795,966 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1169,784,036 - 69,795,943 (-)EnsemblGRCm38mm10GRCm38
MGSCv371169,597,538 - 69,609,439 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361169,600,232 - 69,612,138 (-)NCBIMGSCv36mm8
MGSCv361170,368,144 - 70,380,050 (-)NCBIMGSCv36mm8
Cytogenetic Map11B3NCBI
cM Map1142.87NCBI
Chrnb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81054,999,943 - 55,015,137 (-)NCBIGRCr8
mRatBN7.21054,501,096 - 54,516,418 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1054,501,093 - 54,516,345 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1059,166,354 - 59,178,879 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01058,654,919 - 58,667,445 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01054,162,545 - 54,175,096 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01056,390,671 - 56,403,255 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1056,390,671 - 56,403,188 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01056,135,720 - 56,148,237 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41056,604,907 - 56,617,423 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11056,618,529 - 56,631,046 (-)NCBI
Celera1053,658,103 - 53,670,628 (-)NCBICelera
Cytogenetic Map10q24NCBI
Chrnb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554679,471,962 - 9,482,370 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554679,471,962 - 9,482,370 (-)NCBIChiLan1.0ChiLan1.0
CHRNB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21915,041,812 - 15,053,022 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11717,007,603 - 17,018,838 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0177,479,056 - 7,490,314 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1177,465,229 - 7,476,099 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl177,465,229 - 7,476,099 (+)Ensemblpanpan1.1panPan2
CHRNB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1532,375,152 - 32,383,517 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl532,375,215 - 32,382,929 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha532,513,277 - 32,521,649 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0532,480,862 - 32,489,239 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl532,480,903 - 32,489,017 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1532,446,084 - 32,454,448 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0532,404,809 - 32,413,162 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0532,582,085 - 32,590,461 (+)NCBIUU_Cfam_GSD_1.0
Chrnb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560247,253,704 - 47,261,819 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936595727,980 - 735,783 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936595727,907 - 735,783 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHRNB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1252,749,473 - 52,758,488 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11252,749,422 - 52,774,642 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21254,977,614 - 55,002,976 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CHRNB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1166,821,842 - 6,832,758 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl166,822,065 - 6,833,768 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605914,575,541 - 14,586,609 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Chrnb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478610,056,478 - 10,065,735 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478610,056,458 - 10,065,768 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CHRNB1
416 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000747.3(CHRNB1):c.647G>A (p.Arg216Gln) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000547812]|Inborn genetic diseases [RCV003352925]|not provided [RCV001579413] Chr17:7448615 [GRCh38]
Chr17:7351934 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.1347_1355del (p.Glu449_Glu451del) deletion Congenital myasthenic syndrome 2A [RCV003588563]|Congenital myasthenic syndrome 2C [RCV000020042] Chr17:7455919..7455927 [GRCh38]
Chr17:7359238..7359246 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_000747.3(CHRNB1):c.821_1044del p.Gly274Aspfs deletion Congenital myasthenic syndrome 2C [RCV000020043] Chr17:17p12-p11 pathogenic
NM_000747.3(CHRNB1):c.1359C>T (p.His453=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000558242]|Congenital myasthenic syndrome 4C [RCV001122103] Chr17:7455935 [GRCh38]
Chr17:7359254 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_000747.3(CHRNB1):c.865G>A (p.Val289Met) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000020040]|not provided [RCV000726984] Chr17:7454341 [GRCh38]
Chr17:7357660 [GRCh37]
Chr17:17p13.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000747.3(CHRNB1):c.853C>A (p.Leu285Met) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000020041] Chr17:7454329 [GRCh38]
Chr17:7357648 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 copy number loss See cases [RCV000051043] Chr17:5732977..8038822 [GRCh38]
Chr17:5636297..7942140 [GRCh37]
Chr17:5577021..7882865 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] Chr17:6958978..8335684 [GRCh38]
Chr17:6862297..8239002 [GRCh37]
Chr17:6803021..8179727 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1 copy number loss See cases [RCV000053425] Chr17:7210345..7496934 [GRCh38]
Chr17:7113664..7400253 [GRCh37]
Chr17:7054388..7340977 [NCBI36]
Chr17:17p13.1		 pathogenic
NM_000747.2(CHRNB1):c.493T>C (p.Cys165Arg) single nucleotide variant Malignant melanoma [RCV000071690] Chr17:7447533 [GRCh38]
Chr17:7350852 [GRCh37]
Chr17:7291576 [NCBI36]
Chr17:17p13.1		 not provided
NM_020899.3(ZBTB4):c.2586A>T (p.Ala862=) single nucleotide variant Malignant melanoma [RCV000063307] Chr17:7462396 [GRCh38]
Chr17:7365715 [GRCh37]
Chr17:7306439 [NCBI36]
Chr17:17p13.1		 not provided
NM_020899.3(ZBTB4):c.2585C>T (p.Ala862Val) single nucleotide variant Malignant melanoma [RCV000063308] Chr17:7462397 [GRCh38]
Chr17:7365716 [GRCh37]
Chr17:7306440 [NCBI36]
Chr17:17p13.1		 not provided
NM_004112.3(FGF11):c.521G>A (p.Gly174Asp) single nucleotide variant Malignant melanoma [RCV000071689] Chr17:7442706 [GRCh38]
Chr17:7346025 [GRCh37]
Chr17:7286749 [NCBI36]
Chr17:17p13.1		 not provided
NM_000747.3(CHRNB1):c.1259T>C (p.Ile420Thr) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000545697]|Congenital myasthenic syndrome 4C [RCV000276935]|not specified [RCV000116724] Chr17:7455835 [GRCh38]
Chr17:7359154 [GRCh37]
Chr17:17p13.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000747.3(CHRNB1):c.610+6T>C single nucleotide variant Congenital myasthenic syndrome 2A [RCV001510540]|Congenital myasthenic syndrome 4C [RCV000397260]|not specified [RCV000116725] Chr17:7447656 [GRCh38]
Chr17:7350975 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_000747.3(CHRNB1):c.821-9C>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV000548745]|Congenital myasthenic syndrome 4C [RCV000287134]|not specified [RCV000116726] Chr17:7454288 [GRCh38]
Chr17:7357607 [GRCh37]
Chr17:17p13.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000747.3(CHRNB1):c.95A>G (p.Glu32Gly) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000989695]|Congenital myasthenic syndrome 4C [RCV000329220]|not specified [RCV000116727] Chr17:7445306 [GRCh38]
Chr17:7348625 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.63C>T (p.Val21=) single nucleotide variant not specified [RCV000603299] Chr17:7445274 [GRCh38]
Chr17:7348593 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1045-6C>G single nucleotide variant Congenital myasthenic syndrome 2A [RCV001084004]|Congenital myasthenic syndrome 4C [RCV001127872]|not provided [RCV000513703]|not specified [RCV000180527] Chr17:7455278 [GRCh38]
Chr17:7358597 [GRCh37]
Chr17:17p13.1		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3 copy number gain See cases [RCV000133763] Chr17:6958978..7491129 [GRCh38]
Chr17:6862297..7394448 [GRCh37]
Chr17:6803021..7335172 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 copy number gain See cases [RCV000138220] Chr17:6361393..7750863 [GRCh38]
Chr17:6264713..7654181 [GRCh37]
Chr17:6205437..7594906 [NCBI36]
Chr17:17p13.2-13.1		 likely pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
NM_000747.3(CHRNB1):c.342G>A (p.Val114=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001079488]|Congenital myasthenic syndrome 4C [RCV000323370]|not provided [RCV000178127] Chr17:7446931 [GRCh38]
Chr17:7350250 [GRCh37]
Chr17:17p13.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000747.3(CHRNB1):c.516C>G (p.Tyr172Ter) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000559003]|Congenital myasthenic syndrome 4C [RCV000778516] Chr17:7447556 [GRCh38]
Chr17:7350875 [GRCh37]
Chr17:17p13.1		 pathogenic|uncertain significance
NM_000747.3(CHRNB1):c.166G>A (p.Val56Ile) single nucleotide variant not specified [RCV000238795] Chr17:7445377 [GRCh38]
Chr17:7348696 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.84T>C (p.Gly28=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000528851]|not provided [RCV001570796]|not specified [RCV000244509] Chr17:7445295 [GRCh38]
Chr17:7348614 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_000747.3(CHRNB1):c.1217+28G>A single nucleotide variant Congenital myasthenic syndrome 2A [RCV001578899]|Congenital myasthenic syndrome 2C [RCV001578898]|not provided [RCV000838785]|not specified [RCV000246988] Chr17:7455484 [GRCh38]
Chr17:7358803 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.198+36G>T single nucleotide variant not provided [RCV001618397]|not specified [RCV000247077] Chr17:7445445 [GRCh38]
Chr17:7348764 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.1365+17T>C single nucleotide variant Congenital myasthenic syndrome 2A [RCV002057400]|not specified [RCV000242294] Chr17:7455958 [GRCh38]
Chr17:7359277 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.720C>T (p.Ile240=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000878698]|Congenital myasthenic syndrome 4C [RCV001124773]|not specified [RCV000243190] Chr17:7448688 [GRCh38]
Chr17:7352007 [GRCh37]
Chr17:17p13.1		 benign|likely benign|uncertain significance
NM_000747.3(CHRNB1):c.*18C>T single nucleotide variant Congenital myasthenic syndrome 4C [RCV000332994]|not provided [RCV001567327]|not specified [RCV000245684] Chr17:7456741 [GRCh38]
Chr17:7360060 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.821-16C>G single nucleotide variant Congenital myasthenic syndrome 2A [RCV002057401]|not specified [RCV000248353] Chr17:7454281 [GRCh38]
Chr17:7357600 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_000747.3(CHRNB1):c.1044+25C>A single nucleotide variant not provided [RCV001711796]|not specified [RCV000250833] Chr17:7454545 [GRCh38]
Chr17:7454545..7454546 [GRCh38]
Chr17:7357864 [GRCh37]
Chr17:7357864..7357865 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.305G>C (p.Arg102Pro) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000878558]|Congenital myasthenic syndrome 4C [RCV000284756]|Inborn genetic diseases [RCV004021712] Chr17:7446894 [GRCh38]
Chr17:7350213 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.59-14C>T single nucleotide variant Congenital Myasthenic Syndrome, Dominant/Recessive [RCV000271639]|Congenital myasthenic syndrome 2A [RCV002523011] Chr17:7445256 [GRCh38]
Chr17:7348575 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.*68T>C single nucleotide variant Congenital myasthenic syndrome 4C [RCV000274455]|not provided [RCV001541028] Chr17:7456791 [GRCh38]
Chr17:7456791..7456792 [GRCh38]
Chr17:7360110 [GRCh37]
Chr17:7360110..7360111 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.-19C>T single nucleotide variant Congenital myasthenic syndrome 4C [RCV000325565] Chr17:7445109 [GRCh38]
Chr17:7348428 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.*281T>C single nucleotide variant Congenital myasthenic syndrome 4C [RCV000280304]|not provided [RCV001653586] Chr17:7457004 [GRCh38]
Chr17:7360323 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_000747.3(CHRNB1):c.*433A>G single nucleotide variant Congenital myasthenic syndrome 4C [RCV000316676] Chr17:7457156 [GRCh38]
Chr17:7360475 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_000747.3(CHRNB1):c.*31C>T single nucleotide variant Congenital myasthenic syndrome 4C [RCV000368962] Chr17:7456754 [GRCh38]
Chr17:7360073 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.229G>A (p.Val77Met) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001365073]|not provided [RCV000381807] Chr17:7446099 [GRCh38]
Chr17:7349418 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.*136T>C single nucleotide variant Congenital myasthenic syndrome 4C [RCV000374589] Chr17:7456859 [GRCh38]
Chr17:7360178 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.278C>G (p.Ala93Gly) single nucleotide variant Congenital myasthenic syndrome 4C [RCV000376909] Chr17:7446867 [GRCh38]
Chr17:7350186 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.*755A>C single nucleotide variant Congenital myasthenic syndrome 4C [RCV000285759] Chr17:7457478 [GRCh38]
Chr17:7360797 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_000747.3(CHRNB1):c.*749C>T single nucleotide variant Congenital myasthenic syndrome 4C [RCV000380560] Chr17:7457472 [GRCh38]
Chr17:7360791 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.919del (p.Ile307fs) deletion not provided [RCV000338656] Chr17:7454395 [GRCh38]
Chr17:7357714 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_000747.3(CHRNB1):c.565G>A (p.Gly189Arg) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001411401]|Congenital myasthenic syndrome 4C [RCV000336419]|Inborn genetic diseases [RCV002521121]|not provided [RCV003144210] Chr17:7447605 [GRCh38]
Chr17:7350924 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.903C>T (p.Thr301=) single nucleotide variant CHRNB1-related disorder [RCV003969924]|Congenital myasthenic syndrome 2A [RCV000653245]|Congenital myasthenic syndrome 4C [RCV000342141] Chr17:7454379 [GRCh38]
Chr17:7357698 [GRCh37]
Chr17:17p13.1		 benign|likely benign|uncertain significance
NM_000747.3(CHRNB1):c.995T>G (p.Leu332Arg) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001372158]|Congenital myasthenic syndrome 4C [RCV000397942]|not provided [RCV003418022] Chr17:7454471 [GRCh38]
Chr17:7357790 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.229G>T (p.Val77Leu) single nucleotide variant not provided [RCV000401540] Chr17:7446099 [GRCh38]
Chr17:7349418 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.531G>A (p.Ser177=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001392726]|Congenital myasthenic syndrome 4C [RCV000278953] Chr17:7447571 [GRCh38]
Chr17:7350890 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.*778C>T single nucleotide variant Congenital myasthenic syndrome 4C [RCV000340773] Chr17:7457501 [GRCh38]
Chr17:7360820 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1225C>G (p.Pro409Ala) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000873666]|Congenital myasthenic syndrome 4C [RCV000362114]|not provided [RCV003488543]|not specified [RCV000418759] Chr17:7455801 [GRCh38]
Chr17:7359120 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.1044+9G>A single nucleotide variant Congenital myasthenic syndrome 2A [RCV000552926]|Congenital myasthenic syndrome 4C [RCV000301714] Chr17:7454529 [GRCh38]
Chr17:7357848 [GRCh37]
Chr17:17p13.1		 benign|uncertain significance
NM_000747.3(CHRNB1):c.-13G>C single nucleotide variant CHRNB1-related disorder [RCV003910241]|Congenital myasthenic syndrome 4C [RCV000363887]|not specified [RCV000441938] Chr17:7445115 [GRCh38]
Chr17:7348434 [GRCh37]
Chr17:17p13.1		 benign|likely benign|uncertain significance
NM_000747.3(CHRNB1):c.354-3C>T single nucleotide variant Congenital myasthenic syndrome 4C [RCV000380420] Chr17:7447040 [GRCh38]
Chr17:7350359 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1146C>G (p.Gly382=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001230849]|Congenital myasthenic syndrome 4C [RCV000399753] Chr17:7455385 [GRCh38]
Chr17:7358704 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.645_646del (p.Arg216fs) microsatellite not provided [RCV000523370] Chr17:7448610..7448611 [GRCh38]
Chr17:7351929..7351930 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_000747.3(CHRNB1):c.1087C>A (p.Pro363Thr) single nucleotide variant Congenital myasthenic syndrome 4C [RCV000365724] Chr17:7455326 [GRCh38]
Chr17:7358645 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.*71C>T single nucleotide variant Congenital myasthenic syndrome 4C [RCV000320224] Chr17:7456794 [GRCh38]
Chr17:7360113 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1218-3C>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV002523013]|Congenital myasthenic syndrome 4C [RCV000307522] Chr17:7455791 [GRCh38]
Chr17:7359110 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.727C>T (p.Arg243Cys) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000559793]|not provided [RCV000522217] Chr17:7448695 [GRCh38]
Chr17:7352014 [GRCh37]
Chr17:17p13.1		 pathogenic|likely pathogenic|uncertain significance
NM_000747.3(CHRNB1):c.680G>A (p.Gly227Glu) single nucleotide variant Congenital myasthenic syndrome 4C [RCV000359223] Chr17:7448648 [GRCh38]
Chr17:7351967 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.*843G>C single nucleotide variant Congenital myasthenic syndrome 4C [RCV000397186] Chr17:7457566 [GRCh38]
Chr17:7360885 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.500T>C (p.Met167Thr) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001851428]|Inborn genetic diseases [RCV002525024]|not provided [RCV003144301]|not specified [RCV000516758] Chr17:7447540 [GRCh38]
Chr17:7350859 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1218-9_1218-7del microsatellite Congenital myasthenic syndrome 2A [RCV001089209]|not provided [RCV000598818] Chr17:7455782..7455784 [GRCh38]
Chr17:7359101..7359103 [GRCh37]
Chr17:17p13.1		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000747.3(CHRNB1):c.167T>C (p.Val56Ala) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000706943]|Congenital myasthenic syndrome 4C [RCV000626247]|Inborn genetic diseases [RCV004025291]|not specified [RCV003987629] Chr17:7445378 [GRCh38]
Chr17:7348697 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.115_117del (p.Asp39del) deletion Congenital myasthenic syndrome 2A [RCV003768205]|not provided [RCV000731207] Chr17:7445324..7445326 [GRCh38]
Chr17:7348643..7348645 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1217+9A>G single nucleotide variant CHRNB1-related disorder [RCV003975292]|Congenital myasthenic syndrome 2A [RCV000871319]|Congenital myasthenic syndrome 4C [RCV001122100]|not specified [RCV000734697] Chr17:7455465 [GRCh38]
Chr17:7358784 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_000747.3(CHRNB1):c.1003C>T (p.Arg335Cys) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000540432] Chr17:7454479 [GRCh38]
Chr17:7357798 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7241916-8692213)x1 copy number loss See cases [RCV000445992] Chr17:7241916..8692213 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_000747.3(CHRNB1):c.1044+20C>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV002062603]|not specified [RCV000425214] Chr17:7454540 [GRCh38]
Chr17:7357859 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_000747.3(CHRNB1):c.1A>G (p.Met1Val) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002526631]|not provided [RCV000482140] Chr17:7445128 [GRCh38]
Chr17:7348447 [GRCh37]
Chr17:17p13.1		 pathogenic|likely pathogenic|uncertain significance
NM_000747.3(CHRNB1):c.843C>G (p.Ile281Met) single nucleotide variant not provided [RCV000482014] Chr17:7454319 [GRCh38]
Chr17:7357638 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.872T>C (p.Leu291Pro) single nucleotide variant not provided [RCV000487098] Chr17:7454348 [GRCh38]
Chr17:7357667 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.295_299delinsACG (p.Asp99fs) indel not provided [RCV000494140] Chr17:7446884..7446888 [GRCh38]
Chr17:7350203..7350207 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626431] Chr17:6934163..8217978 [GRCh37]
Chr17:17p13.1		 drug response
NM_000747.3(CHRNB1):c.71C>T (p.Ser24Leu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003779968]|Inborn genetic diseases [RCV003299174] Chr17:7445282 [GRCh38]
Chr17:7348601 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.728G>A (p.Arg243His) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000536107]|not provided [RCV003144366] Chr17:7448696 [GRCh38]
Chr17:7352015 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.36_37delinsAA (p.Leu13Met) indel Congenital myasthenic syndrome 2A [RCV000653238] Chr17:7445163..7445164 [GRCh38]
Chr17:7348482..7348483 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1126T>C (p.Cys376Arg) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000653239]|not provided [RCV001756105] Chr17:7455365 [GRCh38]
Chr17:7358684 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.593A>G (p.His198Arg) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000653241]|not provided [RCV001785691] Chr17:7447633 [GRCh38]
Chr17:7350952 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.257A>G (p.Tyr86Cys) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000653242] Chr17:7446846 [GRCh38]
Chr17:7350165 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1248G>A (p.Leu416=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000653243] Chr17:7455824 [GRCh38]
Chr17:7359143 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.564C>T (p.Asp188=) single nucleotide variant CHRNB1-related disorder [RCV003907913]|Congenital myasthenic syndrome 2A [RCV000653244]|Congenital myasthenic syndrome 4C [RCV001125598] Chr17:7447604 [GRCh38]
Chr17:7350923 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.877C>T (p.Leu293=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000653246] Chr17:7454353 [GRCh38]
Chr17:7357672 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.300G>A (p.Ser100=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000653247] Chr17:7446889 [GRCh38]
Chr17:7350208 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.198+3G>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV000529879] Chr17:7445412 [GRCh38]
Chr17:7348731 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.611-9C>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV000535193]|not specified [RCV000731203] Chr17:7448570 [GRCh38]
Chr17:7351889 [GRCh37]
Chr17:17p13.1		 benign|likely benign
GRCh37/hg19 17p13.1(chr17:7094070-7414448)x1 copy number loss See cases [RCV000512276] Chr17:7094070..7414448 [GRCh37]
Chr17:17p13.1		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NC_000017.10:g.7124585_7400253dup duplication Robin sequence [RCV000677112] Chr17:7124585..7400253 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.340G>A (p.Val114Met) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000698076]|Congenital myasthenic syndrome 4C [RCV001124596]|Inborn genetic diseases [RCV002534347]|not provided [RCV003144543] Chr17:7446929 [GRCh38]
Chr17:7350248 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1063C>T (p.Pro355Ser) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000698892]|not provided [RCV003489822] Chr17:7455302 [GRCh38]
Chr17:7358621 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
Single allele duplication Isolated Pierre-Robin syndrome [RCV000677112] Chr17:7124585..7400253 [GRCh37]
Chr17:17p13.1		 likely pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
NM_000747.3(CHRNB1):c.1015A>G (p.Thr339Ala) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000701221] Chr17:7454491 [GRCh38]
Chr17:7357810 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.248G>A (p.Trp83Ter) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000690484]|not provided [RCV001784314] Chr17:7446837 [GRCh38]
Chr17:7350156 [GRCh37]
Chr17:17p13.1		 pathogenic|conflicting interpretations of pathogenicity
NM_000747.3(CHRNB1):c.506T>G (p.Phe169Cys) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000686397] Chr17:7447546 [GRCh38]
Chr17:7350865 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.53C>G (p.Ala18Gly) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000690025]|Congenital myasthenic syndrome 4C [RCV001123512] Chr17:7445180 [GRCh38]
Chr17:7348499 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.578A>G (p.Gln193Arg) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000691341] Chr17:7447618 [GRCh38]
Chr17:7350937 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1210C>T (p.Pro404Ser) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000698631] Chr17:7455449 [GRCh38]
Chr17:7358768 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.11:g.(?_7454277)_(7454540_?)del deletion Congenital myasthenic syndrome 2A [RCV000708468] Chr17:7454277..7454540 [GRCh38]
Chr17:7357596..7357859 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_000747.3(CHRNB1):c.1448C>T (p.Thr483Ile) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000696820] Chr17:7456665 [GRCh38]
Chr17:7359984 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1482G>T (p.Leu494Phe) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000694622] Chr17:7456699 [GRCh38]
Chr17:7360018 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.1(chr17:7269373-7390669)x1 copy number loss not provided [RCV000739395] Chr17:7269373..7390669 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.243+215TG[25] microsatellite not provided [RCV001541325] Chr17:7446327..7446328 [GRCh38]
Chr17:7349646..7349647 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1365+129_1365+131dup duplication not provided [RCV001666625] Chr17:7456049..7456050 [GRCh38]
Chr17:7359368..7359369 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.132A>G (p.Pro44=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000873829] Chr17:7445343 [GRCh38]
Chr17:7348662 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.956T>C (p.Val319Ala) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001054518]|not provided [RCV003490039] Chr17:7454432 [GRCh38]
Chr17:7357751 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.243+215TG[26] microsatellite not provided [RCV001566725] Chr17:7446327..7446328 [GRCh38]
Chr17:7349646..7349647 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1044+7_1044+10del microsatellite Congenital myasthenic syndrome 2A [RCV001428712] Chr17:7454523..7454526 [GRCh38]
Chr17:7357842..7357845 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.684G>A (p.Arg228=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000900488] Chr17:7448652 [GRCh38]
Chr17:7351971 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.531G>T (p.Ser177=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001502828] Chr17:7447571 [GRCh38]
Chr17:7350890 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1394T>C (p.Met465Thr) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001447421]|Congenital myasthenic syndrome 4C [RCV001124874]|See cases [RCV003232991] Chr17:7456611 [GRCh38]
Chr17:7359930 [GRCh37]
Chr17:17p13.1		 benign|likely benign|uncertain significance
NM_000747.3(CHRNB1):c.199-9C>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV000926015] Chr17:7446060 [GRCh38]
Chr17:7349379 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.663A>T (p.Pro221=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001429579] Chr17:7448631 [GRCh38]
Chr17:7351950 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.753C>T (p.Asn251=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000877406] Chr17:7448721 [GRCh38]
Chr17:7352040 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.725G>A (p.Arg242His) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000871471]|not specified [RCV003317394] Chr17:7448693 [GRCh38]
Chr17:7352012 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.1217+10C>G single nucleotide variant CHRNB1-related disorder [RCV003978188]|Congenital myasthenic syndrome 2A [RCV000949138] Chr17:7455466 [GRCh38]
Chr17:7358785 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_000747.3(CHRNB1):c.687A>G (p.Glu229=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000920496] Chr17:7448655 [GRCh38]
Chr17:7351974 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.572G>A (p.Gly191Glu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001042129]|Inborn genetic diseases [RCV004031273] Chr17:7447612 [GRCh38]
Chr17:7350931 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.608T>C (p.Ile203Thr) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001048836] Chr17:7447648 [GRCh38]
Chr17:7350967 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.725G>T (p.Arg242Leu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001036810] Chr17:7448693 [GRCh38]
Chr17:7352012 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.914T>G (p.Val305Gly) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000791965]|Inborn genetic diseases [RCV002536934]|not provided [RCV003144587] Chr17:7454390 [GRCh38]
Chr17:7357709 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.605dup (p.Ile203fs) duplication Congenital myasthenic syndrome 2A [RCV002535635]|Congenital myasthenic syndrome 4C [RCV000778517] Chr17:7447642..7447643 [GRCh38]
Chr17:7350961..7350962 [GRCh37]
Chr17:17p13.1		 pathogenic|uncertain significance
NM_000747.3(CHRNB1):c.1476C>T (p.Tyr492=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000952451]|not provided [RCV001172112] Chr17:7456693 [GRCh38]
Chr17:7360012 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1116G>A (p.Glu372=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000876352] Chr17:7455355 [GRCh38]
Chr17:7358674 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.612G>A (p.Glu204=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002066178] Chr17:7448580 [GRCh38]
Chr17:7351899 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1467C>T (p.Asp489=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001448865] Chr17:7456684 [GRCh38]
Chr17:7360003 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1218-7C>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV000871666] Chr17:7455787 [GRCh38]
Chr17:7359106 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.59-7C>T single nucleotide variant not provided [RCV000938196] Chr17:7445263 [GRCh38]
Chr17:7348582 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1137A>C (p.Pro379=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003750835] Chr17:7455376 [GRCh38]
Chr17:7358695 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.90C>T (p.Leu30=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000874037] Chr17:7445301 [GRCh38]
Chr17:7348620 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1218-9C>A single nucleotide variant not provided [RCV000980187] Chr17:7455785 [GRCh38]
Chr17:7359104 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.354-1G>A single nucleotide variant Congenital myasthenic syndrome 2A [RCV000818684] Chr17:7447042 [GRCh38]
Chr17:7350361 [GRCh37]
Chr17:17p13.1		 likely pathogenic
NM_000747.3(CHRNB1):c.673A>C (p.Arg225=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001445364] Chr17:7448641 [GRCh38]
Chr17:7351960 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.695G>T (p.Arg232Leu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000803097] Chr17:7448663 [GRCh38]
Chr17:7351982 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_7348427)_(7352127_?)dup duplication Congenital myasthenic syndrome 2A [RCV000815915] Chr17:7445108..7448808 [GRCh38]
Chr17:7348427..7352127 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.909A>G (p.Leu303=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000794394] Chr17:7454385 [GRCh38]
Chr17:7357704 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.240C>G (p.Asp80Glu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000795636] Chr17:7446110 [GRCh38]
Chr17:7349429 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1292del (p.Pro431fs) deletion Congenital myasthenic syndrome 2A [RCV000802349] Chr17:7455867 [GRCh38]
Chr17:7359186 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1389G>A (p.Val463=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001414023] Chr17:7456606 [GRCh38]
Chr17:7359925 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.187C>G (p.Leu63Val) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000796589]|not provided [RCV003144602] Chr17:7445398 [GRCh38]
Chr17:7348717 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.462+74G>A single nucleotide variant Congenital myasthenic syndrome 2A [RCV001578897]|Congenital myasthenic syndrome 2C [RCV001578896]|not provided [RCV000838784] Chr17:7447225 [GRCh38]
Chr17:7350544 [GRCh37]
Chr17:17p13.1		 benign
NC_000017.11:g.7455484G>A single nucleotide variant not provided [RCV000838785] Chr17:7358803 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.1217+155G>A single nucleotide variant not provided [RCV000838787] Chr17:7455611 [GRCh38]
Chr17:7358930 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.1040G>A (p.Arg347His) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000815146] Chr17:7454516 [GRCh38]
Chr17:7357835 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.44C>T (p.Ala15Val) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000811736]|not provided [RCV003145170] Chr17:7445171 [GRCh38]
Chr17:7348490 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.808C>A (p.Pro270Thr) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000794860] Chr17:7448776 [GRCh38]
Chr17:7352095 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1321A>G (p.Ser441Gly) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000818284]|Inborn genetic diseases [RCV004028949]|not provided [RCV003145196] Chr17:7455897 [GRCh38]
Chr17:7359216 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.795C>T (p.Phe265=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001502267] Chr17:7448763 [GRCh38]
Chr17:7352082 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.756C>T (p.Val252=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001393949] Chr17:7448724 [GRCh38]
Chr17:7352043 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.754G>T (p.Val252Phe) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000805961] Chr17:7448722 [GRCh38]
Chr17:7352041 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.243+259T>A single nucleotide variant not provided [RCV001582074] Chr17:7446372 [GRCh38]
Chr17:7349691 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1406G>T (p.Arg469Leu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000816496]|not provided [RCV003145191] Chr17:7456623 [GRCh38]
Chr17:7359942 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1217+86T>C single nucleotide variant not provided [RCV000838786] Chr17:7455542 [GRCh38]
Chr17:7358861 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.314C>T (p.Ala105Val) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000817093] Chr17:7446903 [GRCh38]
Chr17:7350222 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.724C>T (p.Arg242Cys) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000823091]|not provided [RCV000996473] Chr17:7448692 [GRCh38]
Chr17:7352011 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.78G>A (p.Ala26=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001405166] Chr17:7445289 [GRCh38]
Chr17:7348608 [GRCh37]
Chr17:17p13.1		 likely benign
NC_000017.11:g.(?_7454287)_(7454530_?)del deletion Congenital myasthenic syndrome 2A [RCV000807240] Chr17:7454287..7454530 [GRCh38]
Chr17:7357606..7357849 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_000747.3(CHRNB1):c.61G>A (p.Val21Ile) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001226893] Chr17:7445272 [GRCh38]
Chr17:7348591 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.59-3C>T single nucleotide variant CHRNB1-related disorder [RCV003953594]|Congenital myasthenic syndrome 2A [RCV001232453] Chr17:7445267 [GRCh38]
Chr17:7348586 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.347T>C (p.Leu116Pro) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001230031] Chr17:7446936 [GRCh38]
Chr17:7350255 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.197T>G (p.Leu66Arg) single nucleotide variant Inborn genetic diseases [RCV003268970] Chr17:7445408 [GRCh38]
Chr17:7348727 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.669T>C (p.Asp223=) single nucleotide variant Congenital myasthenic syndrome 4C [RCV001122011] Chr17:7448637 [GRCh38]
Chr17:7351956 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.*701G>A single nucleotide variant Congenital myasthenic syndrome 4C [RCV001127963] Chr17:7457424 [GRCh38]
Chr17:7360743 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.*287C>T single nucleotide variant Congenital myasthenic syndrome 4C [RCV001125850] Chr17:7457010 [GRCh38]
Chr17:7360329 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.*512C>T single nucleotide variant Congenital myasthenic syndrome 4C [RCV001125854] Chr17:7457235 [GRCh38]
Chr17:7360554 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.198+15G>A single nucleotide variant Congenital myasthenic syndrome 2A [RCV002070016]|Congenital myasthenic syndrome 4C [RCV001123513] Chr17:7445424 [GRCh38]
Chr17:7348743 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
GRCh37/hg19 17p13.1(chr17:7357616-7357839)x1 copy number loss not provided [RCV001091977] Chr17:7357616..7357839 [GRCh37]
Chr17:17p13.1		 likely pathogenic
NM_000747.3(CHRNB1):c.1218-15T>C single nucleotide variant Congenital myasthenic syndrome 2A [RCV003104779] Chr17:7455779 [GRCh38]
Chr17:7359098 [GRCh37]
Chr17:17p13.1		 likely benign
NC_000017.10:g.(?_7359882)_(7360042_?)del deletion Congenital myasthenic syndrome 2A [RCV003105326] Chr17:7359882..7360042 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.243+214_243+235del deletion not provided [RCV001569778] Chr17:7446306..7446327 [GRCh38]
Chr17:7349625..7349646 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.243+215TG[24] microsatellite not provided [RCV001546852] Chr17:7446327..7446328 [GRCh38]
Chr17:7349646..7349647 [GRCh37]
Chr17:17p13.1		 likely benign
NC_000017.10:g.(?_7123304)_(7606804_?)del deletion Common variable immunodeficiency [RCV003107751] Chr17:7123304..7606804 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.243+223_243+224insCTGT insertion not provided [RCV001553382] Chr17:7446333..7446334 [GRCh38]
Chr17:7349652..7349653 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1366-145G>A single nucleotide variant not provided [RCV001714698] Chr17:7456438 [GRCh38]
Chr17:7359757 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.1435A>T (p.Thr479Ser) single nucleotide variant not provided [RCV001560617] Chr17:7456652 [GRCh38]
Chr17:7359971 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1366-107T>G single nucleotide variant not provided [RCV001615992] Chr17:7456476 [GRCh38]
Chr17:7359795 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.243+220G>C single nucleotide variant not provided [RCV001577715] Chr17:7446333 [GRCh38]
Chr17:7349652 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.243+214_243+215del deletion not provided [RCV001714496] Chr17:7446326..7446327 [GRCh38]
Chr17:7349645..7349646 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.39G>C (p.Leu13=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000899910]|Congenital myasthenic syndrome 4C [RCV001123511] Chr17:7445166 [GRCh38]
Chr17:7348485 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.1437C>T (p.Thr479=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002545922] Chr17:7456654 [GRCh38]
Chr17:7359973 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.300G>T (p.Ser100=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001397098] Chr17:7446889 [GRCh38]
Chr17:7350208 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.51C>T (p.Leu17=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003750831] Chr17:7445178 [GRCh38]
Chr17:7348497 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1424T>C (p.Phe475Ser) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000876790]|Congenital myasthenic syndrome 4C [RCV001124875]|not provided [RCV003145223] Chr17:7456641 [GRCh38]
Chr17:7359960 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.1365+5del deletion Congenital myasthenic syndrome 2A [RCV001216872] Chr17:7455946 [GRCh38]
Chr17:7359265 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.462+6C>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV001063801] Chr17:7447157 [GRCh38]
Chr17:7350476 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_6589506)_(8151374_?)dup duplication Common variable immunodeficiency [RCV001338841]|Dyskeratosis congenita [RCV001031775] Chr17:6589506..8151374 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.31G>A (p.Gly11Arg) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001238196] Chr17:7445158 [GRCh38]
Chr17:7348477 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.754G>A (p.Val252Ile) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001431384]|Congenital myasthenic syndrome 4C [RCV001125764]|Inborn genetic diseases [RCV003163284] Chr17:7448722 [GRCh38]
Chr17:7352041 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.354-8C>G single nucleotide variant Congenital myasthenic syndrome 2A [RCV001229608] Chr17:7447035 [GRCh38]
Chr17:7350354 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.129G>A (p.Arg43=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001462218] Chr17:7445340 [GRCh38]
Chr17:7348659 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1314C>T (p.Ser438=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV000933633] Chr17:7455890 [GRCh38]
Chr17:7359209 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.243+226G>C single nucleotide variant not provided [RCV001570365] Chr17:7446339 [GRCh38]
Chr17:7349658 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.610+268G>A single nucleotide variant not provided [RCV001656275] Chr17:7447918 [GRCh38]
Chr17:7351237 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.243+221_243+222insCTGT insertion not provided [RCV001550732] Chr17:7446331..7446332 [GRCh38]
Chr17:7349650..7349651 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.243+214_243+231del deletion not provided [RCV001654502] Chr17:7446310..7446327 [GRCh38]
Chr17:7349629..7349646 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.243+214_243+229del deletion not provided [RCV001618098] Chr17:7446312..7446327 [GRCh38]
Chr17:7349631..7349646 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.243+214_243+219del deletion not provided [RCV001719226] Chr17:7446322..7446327 [GRCh38]
Chr17:7349641..7349646 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.1365+297G>C single nucleotide variant not provided [RCV001656542] Chr17:7456238 [GRCh38]
Chr17:7359557 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.1365+128_1365+131dup duplication not provided [RCV001620021] Chr17:7456049..7456050 [GRCh38]
Chr17:7359368..7359369 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.243+217_243+218insCT insertion not provided [RCV001673342] Chr17:7446329..7446330 [GRCh38]
Chr17:7349648..7349649 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.611-62A>G single nucleotide variant not provided [RCV001669739] Chr17:7448517 [GRCh38]
Chr17:7351836 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.1045-83C>T single nucleotide variant not provided [RCV001718282] Chr17:7455201 [GRCh38]
Chr17:7358520 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.243+221_243+222insCT insertion not provided [RCV001617839] Chr17:7446333..7446334 [GRCh38]
Chr17:7349652..7349653 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.236T>C (p.Leu79Ser) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001226291]|Congenital myasthenic syndrome 4C [RCV001124594] Chr17:7446106 [GRCh38]
Chr17:7349425 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.*765G>A single nucleotide variant Congenital myasthenic syndrome 4C [RCV001127964] Chr17:7457488 [GRCh38]
Chr17:7360807 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.*775A>C single nucleotide variant Congenital myasthenic syndrome 4C [RCV001127965] Chr17:7457498 [GRCh38]
Chr17:7360817 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.*120G>A single nucleotide variant Congenital myasthenic syndrome 4C [RCV001124877] Chr17:7456843 [GRCh38]
Chr17:7360162 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1026G>A (p.Met342Ile) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001067280] Chr17:7454502 [GRCh38]
Chr17:7357821 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.481G>A (p.Asp161Asn) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003769203]|Congenital myasthenic syndrome 4C [RCV001124597]|not provided [RCV001796369] Chr17:7447521 [GRCh38]
Chr17:7350840 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.*369C>T single nucleotide variant Congenital myasthenic syndrome 4C [RCV001125852] Chr17:7457092 [GRCh38]
Chr17:7360411 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.*343C>T single nucleotide variant Congenital myasthenic syndrome 4C [RCV001125851] Chr17:7457066 [GRCh38]
Chr17:7360385 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.*403C>G single nucleotide variant Congenital myasthenic syndrome 4C [RCV001125853] Chr17:7457126 [GRCh38]
Chr17:7360445 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1348C>A (p.Gln450Lys) single nucleotide variant Congenital myasthenic syndrome 4C [RCV001122102] Chr17:7455924 [GRCh38]
Chr17:7359243 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.243+214_243+223del deletion not provided [RCV001616632] Chr17:7446318..7446327 [GRCh38]
Chr17:7349637..7349646 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.866T>C (p.Val289Ala) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001066761] Chr17:7454342 [GRCh38]
Chr17:7357661 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_000747.3(CHRNB1):c.820+115C>T single nucleotide variant not provided [RCV001707999] Chr17:7448903 [GRCh38]
Chr17:7352222 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.243+222G>C single nucleotide variant not provided [RCV001644347] Chr17:7446335 [GRCh38]
Chr17:7349654 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.1365+97T>G single nucleotide variant not provided [RCV001614419] Chr17:7456038 [GRCh38]
Chr17:7359357 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.243+214_243+233del deletion not provided [RCV001614070] Chr17:7446308..7446327 [GRCh38]
Chr17:7349627..7349646 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.1365+120_1365+131del deletion not provided [RCV001671644] Chr17:7456050..7456061 [GRCh38]
Chr17:7359369..7359380 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.687_688insT (p.Gly230fs) insertion Congenital myasthenic syndrome 2A [RCV001195894] Chr17:7448655..7448656 [GRCh38]
Chr17:7351974..7351975 [GRCh37]
Chr17:17p13.1		 likely pathogenic
NM_000747.3(CHRNB1):c.793T>G (p.Phe265Val) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001215664] Chr17:7448761 [GRCh38]
Chr17:7352080 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.646C>T (p.Arg216Trp) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002554827]|not provided [RCV001091167] Chr17:7448614 [GRCh38]
Chr17:7351933 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.499A>G (p.Met167Val) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001236868]|Inborn genetic diseases [RCV002563873] Chr17:7447539 [GRCh38]
Chr17:7350858 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.898G>C (p.Glu300Gln) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001220092] Chr17:7454374 [GRCh38]
Chr17:7357693 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.955G>A (p.Val319Ile) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001044143] Chr17:7454431 [GRCh38]
Chr17:7357750 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1177C>G (p.Arg393Gly) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001207791] Chr17:7455416 [GRCh38]
Chr17:7358735 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.243+14A>G single nucleotide variant Congenital myasthenic syndrome 2A [RCV002070030]|Congenital myasthenic syndrome 4C [RCV001124595] Chr17:7446127 [GRCh38]
Chr17:7349446 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_000747.3(CHRNB1):c.*79G>A single nucleotide variant Congenital myasthenic syndrome 4C [RCV001124876] Chr17:7456802 [GRCh38]
Chr17:7360121 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1027C>A (p.Pro343Thr) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001207171]|Inborn genetic diseases [RCV004033691]|not provided [RCV003490121] Chr17:7454503 [GRCh38]
Chr17:7357822 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.1441G>T (p.Val481Phe) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001216416] Chr17:7456658 [GRCh38]
Chr17:7359977 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1268C>A (p.Pro423Gln) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001211442]|Congenital myasthenic syndrome 4C [RCV001122101]|Inborn genetic diseases [RCV002556628]|not provided [RCV003145354] Chr17:7455844 [GRCh38]
Chr17:7359163 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.686_687insGGG (p.Gly230dup) insertion Congenital myasthenic syndrome 2A [RCV001195895] Chr17:7448654..7448655 [GRCh38]
Chr17:7351973..7351974 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 copy number gain not provided [RCV001259299] Chr17:6650649..8040151 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_7348427)_(7352127_?)dup duplication Myasthenic syndrome, congenital, 2a, slow-channel [RCV001295084] Chr17:7348427..7352127 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.244-104G>A single nucleotide variant not provided [RCV001549346] Chr17:7446729 [GRCh38]
Chr17:7350048 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.214G>A (p.Glu72Lys) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001304809] Chr17:7446084 [GRCh38]
Chr17:7349403 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.801C>G (p.Phe267Leu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001339402] Chr17:7448769 [GRCh38]
Chr17:7352088 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.286G>T (p.Asp96Tyr) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001308751] Chr17:7446875 [GRCh38]
Chr17:7350194 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.185A>C (p.Gln62Pro) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001350080] Chr17:7445396 [GRCh38]
Chr17:7348715 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.820+56T>C single nucleotide variant not provided [RCV001539140] Chr17:7448844 [GRCh38]
Chr17:7352163 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1218-10C>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV001412413] Chr17:7455784 [GRCh38]
Chr17:7359103 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.775A>T (p.Ile259Phe) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001325028] Chr17:7448743 [GRCh38]
Chr17:7352062 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1224G>A (p.Gln408=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001392158] Chr17:7455800 [GRCh38]
Chr17:7359119 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.5C>T (p.Thr2Ile) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001359653]|Inborn genetic diseases [RCV004036740] Chr17:7445132 [GRCh38]
Chr17:7348451 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.304C>T (p.Arg102Cys) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001299940] Chr17:7446893 [GRCh38]
Chr17:7350212 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.472T>C (p.Phe158Leu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001321800] Chr17:7447512 [GRCh38]
Chr17:7350831 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.364A>C (p.Asn122His) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001365129]|not provided [RCV003145624] Chr17:7447053 [GRCh38]
Chr17:7350372 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.631A>G (p.Ile211Val) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001338796] Chr17:7448599 [GRCh38]
Chr17:7351918 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.407A>G (p.Asp136Gly) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001372346]|Inborn genetic diseases [RCV002550154] Chr17:7447096 [GRCh38]
Chr17:7350415 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.982G>A (p.Val328Met) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001323640]|Inborn genetic diseases [RCV004035105] Chr17:7454458 [GRCh38]
Chr17:7357777 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.694C>A (p.Arg232Ser) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001364326]|Inborn genetic diseases [RCV002547818]|not provided [RCV003145620] Chr17:7448662 [GRCh38]
Chr17:7351981 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.343C>G (p.Leu115Val) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001327284] Chr17:7446932 [GRCh38]
Chr17:7350251 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.302T>C (p.Leu101Pro) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001337345] Chr17:7446891 [GRCh38]
Chr17:7350210 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1364C>A (p.Ala455Glu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001315750]|Inborn genetic diseases [RCV002545086]|not provided [RCV003145557] Chr17:7455940 [GRCh38]
Chr17:7359259 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.6C>T (p.Thr2=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001470549] Chr17:7445133 [GRCh38]
Chr17:7348452 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.821-4C>A single nucleotide variant Congenital myasthenic syndrome 2A [RCV001392923] Chr17:7454293 [GRCh38]
Chr17:7357612 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1152T>C (p.Gly384=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001417051] Chr17:7455391 [GRCh38]
Chr17:7358710 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.681G>A (p.Gly227=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001393231] Chr17:7448649 [GRCh38]
Chr17:7351968 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.723C>A (p.Ile241=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001447006] Chr17:7448691 [GRCh38]
Chr17:7352010 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1044+161C>G single nucleotide variant not provided [RCV001534846] Chr17:7454681 [GRCh38]
Chr17:7358000 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.1365+130_1365+131dup duplication not provided [RCV001535269] Chr17:7456049..7456050 [GRCh38]
Chr17:7359368..7359369 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.9A>G (p.Pro3=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001440627] Chr17:7445136 [GRCh38]
Chr17:7348455 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1074G>C (p.Leu358=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001428534] Chr17:7455313 [GRCh38]
Chr17:7358632 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.883del (p.Ala295fs) deletion Congenital myasthenic syndrome 2A [RCV001380974]|not provided [RCV003136054] Chr17:7454358 [GRCh38]
Chr17:7357677 [GRCh37]
Chr17:17p13.1		 pathogenic|likely pathogenic
NM_000747.3(CHRNB1):c.1365+105dup duplication not provided [RCV001655335] Chr17:7456037..7456038 [GRCh38]
Chr17:7359356..7359357 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.243+214_243+227del deletion not provided [RCV001530912] Chr17:7446314..7446327 [GRCh38]
Chr17:7349633..7349646 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.243+214_243+217del deletion not provided [RCV001650773] Chr17:7446324..7446327 [GRCh38]
Chr17:7349643..7349646 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.243+224G>C single nucleotide variant not provided [RCV001684176] Chr17:7446337 [GRCh38]
Chr17:7349656 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.611-154C>T single nucleotide variant not provided [RCV001655459] Chr17:7448425 [GRCh38]
Chr17:7351744 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.821-205A>G single nucleotide variant not provided [RCV001687762] Chr17:7454092 [GRCh38]
Chr17:7357411 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.243+218G>C single nucleotide variant not provided [RCV001588576] Chr17:7446331 [GRCh38]
Chr17:7349650 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.244-102C>A single nucleotide variant not provided [RCV001695754] Chr17:7446731 [GRCh38]
Chr17:7350050 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.243+214C>G single nucleotide variant not provided [RCV001693884] Chr17:7446327 [GRCh38]
Chr17:7349646 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.243+228G>C single nucleotide variant not provided [RCV001708104] Chr17:7446341 [GRCh38]
Chr17:7349660 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.771C>T (p.Ile257=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001472625] Chr17:7448739 [GRCh38]
Chr17:7352058 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.759dup (p.Ala254fs) duplication Congenital myasthenic syndrome 2A [RCV001380636] Chr17:7448725..7448726 [GRCh38]
Chr17:7352044..7352045 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_6328780)_(7606804_?)dup duplication Congenital myasthenic syndrome 2A [RCV003109217]|Very long chain acyl-CoA dehydrogenase deficiency [RCV003119078] Chr17:6328780..7606804 [GRCh37]
Chr17:17p13.2-13.1		 uncertain significance
NM_000747.3(CHRNB1):c.42_44delinsAA (p.Ala15fs) indel not provided [RCV001779915] Chr17:7445169..7445171 [GRCh38]
Chr17:7348488..7348490 [GRCh37]
Chr17:17p13.1		 likely pathogenic
NM_000747.3(CHRNB1):c.353+2T>C single nucleotide variant not provided [RCV001780779] Chr17:7446944 [GRCh38]
Chr17:7350263 [GRCh37]
Chr17:17p13.1		 likely pathogenic
NM_000747.3(CHRNB1):c.419G>T (p.Arg140Leu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001868615]|Inborn genetic diseases [RCV002540540]|not provided [RCV001771383] Chr17:7447108 [GRCh38]
Chr17:7350427 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.611-28G>T single nucleotide variant not provided [RCV001799895] Chr17:7448551 [GRCh38]
Chr17:7351870 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.317A>T (p.Glu106Val) single nucleotide variant not provided [RCV001764774] Chr17:7446906 [GRCh38]
Chr17:7350225 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1218-46A>G single nucleotide variant not provided [RCV001779861] Chr17:7455748 [GRCh38]
Chr17:7359067 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.403_407delinsGTGCGTGGTGTC (p.Ser135fs) indel not provided [RCV001780780] Chr17:7447092..7447096 [GRCh38]
Chr17:7350411..7350415 [GRCh37]
Chr17:17p13.1		 likely pathogenic
NM_000747.3(CHRNB1):c.1028C>T (p.Pro343Leu) single nucleotide variant not provided [RCV001757832] Chr17:7454504 [GRCh38]
Chr17:7357823 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.731_732delinsC (p.Lys244fs) indel Congenital myasthenic syndrome 2A [RCV001808951] Chr17:7448699..7448700 [GRCh38]
Chr17:7352018..7352019 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.305G>T (p.Arg102Leu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001948847] Chr17:7446894 [GRCh38]
Chr17:7350213 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.243+18G>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV001970663] Chr17:7446131 [GRCh38]
Chr17:7349450 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.373G>A (p.Val125Met) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001874409] Chr17:7447062 [GRCh38]
Chr17:7350381 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.56C>A (p.Pro19Gln) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002006989] Chr17:7445183 [GRCh38]
Chr17:7348502 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1154G>C (p.Arg385Pro) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001874623] Chr17:7455393 [GRCh38]
Chr17:7358712 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1472C>A (p.Thr491Lys) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001911456]|not provided [RCV003146327] Chr17:7456689 [GRCh38]
Chr17:7360008 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1033T>G (p.Trp345Gly) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002041849]|Inborn genetic diseases [RCV004038870] Chr17:7454509 [GRCh38]
Chr17:7357828 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1406G>A (p.Arg469His) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001893347] Chr17:7456623 [GRCh38]
Chr17:7359942 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1365+5G>C single nucleotide variant Congenital myasthenic syndrome 2A [RCV001839113]|Congenital myasthenic syndrome 2A [RCV003588772] Chr17:7455946 [GRCh38]
Chr17:7359265 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.398T>C (p.Val133Ala) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001910544] Chr17:7447087 [GRCh38]
Chr17:7350406 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1154G>A (p.Arg385Gln) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001947310] Chr17:7455393 [GRCh38]
Chr17:7358712 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.361G>C (p.Gly121Arg) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001871395] Chr17:7447050 [GRCh38]
Chr17:7350369 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.719T>A (p.Ile240Asn) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001913910] Chr17:7448687 [GRCh38]
Chr17:7352006 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.243+19del deletion Congenital myasthenic syndrome 2A [RCV002021326] Chr17:7446129 [GRCh38]
Chr17:7349448 [GRCh37]
Chr17:17p13.1		 benign|uncertain significance
NM_000747.3(CHRNB1):c.1004G>A (p.Arg335His) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001945485] Chr17:7454480 [GRCh38]
Chr17:7357799 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.823G>T (p.Glu275Ter) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002001892]|not provided [RCV002507636] Chr17:7454299 [GRCh38]
Chr17:7357618 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_000747.3(CHRNB1):c.198+8C>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV001911412] Chr17:7445417 [GRCh38]
Chr17:7348736 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.598G>A (p.Gly200Arg) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002042793] Chr17:7447638 [GRCh38]
Chr17:7350957 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.532G>C (p.Glu178Gln) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001889521] Chr17:7447572 [GRCh38]
Chr17:7350891 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.145G>A (p.Gly49Arg) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002041775] Chr17:7445356 [GRCh38]
Chr17:7348675 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7020054-8086290) copy number loss not specified [RCV002052585] Chr17:7020054..8086290 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7241916-8692213) copy number loss not specified [RCV002052586] Chr17:7241916..8692213 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_000747.3(CHRNB1):c.1453G>A (p.Val485Ile) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001891668] Chr17:7456670 [GRCh38]
Chr17:7359989 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.706A>C (p.Ile236Leu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002039142] Chr17:7448674 [GRCh38]
Chr17:7351993 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_7357606)_(7360052_?)del deletion Congenital myasthenic syndrome 2A [RCV001991952] Chr17:7357606..7360052 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1139G>C (p.Gly380Ala) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001918982] Chr17:7455378 [GRCh38]
Chr17:7358697 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1497del (p.Pro501fs) deletion Congenital myasthenic syndrome 2A [RCV001993539] Chr17:7456711 [GRCh38]
Chr17:7360030 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.854T>C (p.Leu285Pro) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002046820] Chr17:7454330 [GRCh38]
Chr17:7357649 [GRCh37]
Chr17:17p13.1		 likely pathogenic
NM_000747.3(CHRNB1):c.983T>C (p.Val328Ala) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001877549] Chr17:7454459 [GRCh38]
Chr17:7357778 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.286G>C (p.Asp96His) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001902088] Chr17:7446875 [GRCh38]
Chr17:7350194 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.290_291delinsAA (p.Gly97Glu) indel Congenital myasthenic syndrome 2A [RCV001875075] Chr17:7446879..7446880 [GRCh38]
Chr17:7350198..7350199 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.44C>G (p.Ala15Gly) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001879121] Chr17:7445171 [GRCh38]
Chr17:7348490 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.530C>T (p.Ser177Leu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001978405] Chr17:7447570 [GRCh38]
Chr17:7350889 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1396G>A (p.Val466Ile) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001979085] Chr17:7456613 [GRCh38]
Chr17:7359932 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1102G>C (p.Asp368His) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001961553] Chr17:7455341 [GRCh38]
Chr17:7358660 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_7348447)_(7357859_?)dup duplication Congenital myasthenic syndrome 2A [RCV001940894] Chr17:7348447..7357859 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.301C>T (p.Leu101Phe) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001879690] Chr17:7446890 [GRCh38]
Chr17:7350209 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.938T>C (p.Met313Thr) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001938361] Chr17:7454414 [GRCh38]
Chr17:7357733 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.40_48del (p.Gly14_Pro16del) deletion Congenital myasthenic syndrome 2A [RCV001901500]|not provided [RCV003146331] Chr17:7445166..7445174 [GRCh38]
Chr17:7348485..7348493 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.26T>C (p.Leu9Pro) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001938219]|not provided [RCV002507040] Chr17:7445153 [GRCh38]
Chr17:7348472 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1418G>A (p.Trp473Ter) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001882235] Chr17:7456635 [GRCh38]
Chr17:7359954 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.386T>C (p.Ile129Thr) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002013284] Chr17:7447075 [GRCh38]
Chr17:7350394 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.82G>A (p.Gly28Ser) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001881250] Chr17:7445293 [GRCh38]
Chr17:7348612 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1307T>A (p.Val436Asp) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002013457] Chr17:7455883 [GRCh38]
Chr17:7359202 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.86G>C (p.Arg29Pro) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001936409] Chr17:7445297 [GRCh38]
Chr17:7348616 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1079T>C (p.Leu360Pro) single nucleotide variant Congenital myasthenic syndrome 2A [RCV001992263] Chr17:7455318 [GRCh38]
Chr17:7358637 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.192C>T (p.Ile64=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002085674] Chr17:7445403 [GRCh38]
Chr17:7348722 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1365+16G>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV002108507] Chr17:7455957 [GRCh38]
Chr17:7359276 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1045-11C>G single nucleotide variant Congenital myasthenic syndrome 2A [RCV002110712] Chr17:7455273 [GRCh38]
Chr17:7358592 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.58+20G>A single nucleotide variant Congenital myasthenic syndrome 2A [RCV002108190] Chr17:7445205 [GRCh38]
Chr17:7348524 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.972C>T (p.Ile324=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002215069] Chr17:7454448 [GRCh38]
Chr17:7357767 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.480C>T (p.Phe160=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002114965] Chr17:7447520 [GRCh38]
Chr17:7350839 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1044+12CTC[2] microsatellite Congenital myasthenic syndrome 2A [RCV002085615] Chr17:7454532..7454534 [GRCh38]
Chr17:7357851..7357853 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.303C>T (p.Leu101=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002110492] Chr17:7446892 [GRCh38]
Chr17:7350211 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.199-13T>G single nucleotide variant Congenital myasthenic syndrome 2A [RCV002078156] Chr17:7446056 [GRCh38]
Chr17:7349375 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.198+10C>G single nucleotide variant Congenital myasthenic syndrome 2A [RCV002191674] Chr17:7445419 [GRCh38]
Chr17:7348738 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.462+7G>A single nucleotide variant Congenital myasthenic syndrome 2A [RCV002105544] Chr17:7447158 [GRCh38]
Chr17:7350477 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1497C>T (p.Pro499=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002078488] Chr17:7456714 [GRCh38]
Chr17:7360033 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1217+11G>A single nucleotide variant Congenital myasthenic syndrome 2A [RCV002177086] Chr17:7455467 [GRCh38]
Chr17:7358786 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1362T>C (p.Asp454=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002100012] Chr17:7455938 [GRCh38]
Chr17:7359257 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.852G>T (p.Leu284=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002155193] Chr17:7454328 [GRCh38]
Chr17:7357647 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.821-20C>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV002163578] Chr17:7454277 [GRCh38]
Chr17:7357596 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.330C>G (p.Leu110=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002177263] Chr17:7446919 [GRCh38]
Chr17:7350238 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.183G>T (p.Ala61=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002121365] Chr17:7445394 [GRCh38]
Chr17:7348713 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.611-15_611-13del deletion Congenital myasthenic syndrome 2A [RCV002124098] Chr17:7448562..7448564 [GRCh38]
Chr17:7351881..7351883 [GRCh37]
Chr17:17p13.1		 likely benign
NC_000017.10:g.(?_7120455)_(8151423_?)del deletion Li-Fraumeni syndrome [RCV003111420] Chr17:7120455..8151423 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_7123304)_(8193254_?)del deletion Very long chain acyl-CoA dehydrogenase deficiency [RCV003119081] Chr17:7123304..8193254 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_000747.3(CHRNB1):c.512C>G (p.Ser171Cys) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003118799] Chr17:7447552 [GRCh38]
Chr17:7350871 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.667G>A (p.Asp223Asn) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003118868]|Inborn genetic diseases [RCV004245892] Chr17:7448635 [GRCh38]
Chr17:7351954 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.336C>T (p.Asp112=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003122701] Chr17:7446925 [GRCh38]
Chr17:7350244 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.611-9C>G single nucleotide variant Congenital myasthenic syndrome 2A [RCV003588786]|See cases [RCV002253165] Chr17:7448570 [GRCh38]
Chr17:7351889 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.221G>T (p.Ser74Ile) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003750885]|not provided [RCV002276303] Chr17:7446091 [GRCh38]
Chr17:7349410 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_7357605)_(7358039_?)del deletion not provided [RCV002271728] Chr17:7357605..7358039 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.*733G>A single nucleotide variant not provided [RCV002263066] Chr17:7457456 [GRCh38]
Chr17:7360775 [GRCh37]
Chr17:17p13.1		 benign
NM_000747.3(CHRNB1):c.995T>C (p.Leu332Pro) single nucleotide variant not provided [RCV002287052] Chr17:7454471 [GRCh38]
Chr17:7357790 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.812C>T (p.Pro271Leu) single nucleotide variant not provided [RCV002267786] Chr17:7448780 [GRCh38]
Chr17:7352099 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1404C>A (p.Asp468Glu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003148519] Chr17:7456621 [GRCh38]
Chr17:7359940 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1355A>G (p.Asp452Gly) single nucleotide variant Inborn genetic diseases [RCV003299945] Chr17:7455931 [GRCh38]
Chr17:7359250 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(7352108_7357615)_(7357840_7358602)del deletion Congenital myasthenic syndrome 2C [RCV002308544] Chr17:7357615..7357840 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_000747.3(CHRNB1):c.198+15G>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV002903688] Chr17:7445424 [GRCh38]
Chr17:7348743 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1066C>T (p.Leu356=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003015637] Chr17:7455305 [GRCh38]
Chr17:7358624 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.198+14G>C single nucleotide variant Congenital myasthenic syndrome 2A [RCV002750710] Chr17:7445423 [GRCh38]
Chr17:7348742 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1172T>G (p.Phe391Cys) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002819203] Chr17:7455411 [GRCh38]
Chr17:7358730 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.516C>T (p.Tyr172=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003076380] Chr17:7447556 [GRCh38]
Chr17:7350875 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.321C>T (p.Ser107=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002613552] Chr17:7446910 [GRCh38]
Chr17:7350229 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1420A>G (p.Thr474Ala) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002774796] Chr17:7456637 [GRCh38]
Chr17:7359956 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.766T>C (p.Cys256Arg) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003095754]|Inborn genetic diseases [RCV003086898] Chr17:7448734 [GRCh38]
Chr17:7352053 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.439T>G (p.Tyr147Asp) single nucleotide variant Inborn genetic diseases [RCV002907546] Chr17:7447128 [GRCh38]
Chr17:7350447 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.481G>T (p.Asp161Tyr) single nucleotide variant Inborn genetic diseases [RCV002752443] Chr17:7447521 [GRCh38]
Chr17:7350840 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.821-14C>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV003073870] Chr17:7454283 [GRCh38]
Chr17:7357602 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.113A>T (p.Tyr38Phe) single nucleotide variant Inborn genetic diseases [RCV002816801] Chr17:7445324 [GRCh38]
Chr17:7348643 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1248G>C (p.Leu416=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003012426] Chr17:7455824 [GRCh38]
Chr17:7359143 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.387T>C (p.Ile129=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003098925] Chr17:7447076 [GRCh38]
Chr17:7350395 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1230_1244dup (p.Pro414_Asp415insGluLeuSerAlaPro) duplication Congenital myasthenic syndrome 2A [RCV003017504] Chr17:7455800..7455801 [GRCh38]
Chr17:7359119..7359120 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.38T>C (p.Leu13Pro) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002775713] Chr17:7445165 [GRCh38]
Chr17:7348484 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.59-3_60dup duplication Congenital myasthenic syndrome 2A [RCV003014910] Chr17:7445265..7445266 [GRCh38]
Chr17:7348584..7348585 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.930G>A (p.Lys310=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002593311] Chr17:7454406 [GRCh38]
Chr17:7357725 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.354-6C>G single nucleotide variant Congenital myasthenic syndrome 2A [RCV002889130] Chr17:7447037 [GRCh38]
Chr17:7350356 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.820+16G>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV002926918] Chr17:7448804 [GRCh38]
Chr17:7352123 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.62T>G (p.Val21Gly) single nucleotide variant Inborn genetic diseases [RCV002708204] Chr17:7445273 [GRCh38]
Chr17:7348592 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.670C>A (p.Pro224Thr) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002785959] Chr17:7448638 [GRCh38]
Chr17:7351957 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.611-1G>C single nucleotide variant Congenital myasthenic syndrome 2A [RCV003053335] Chr17:7448578 [GRCh38]
Chr17:7351897 [GRCh37]
Chr17:17p13.1		 likely pathogenic
NM_000747.3(CHRNB1):c.963C>G (p.Phe321Leu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002658641]|Inborn genetic diseases [RCV002639621] Chr17:7454439 [GRCh38]
Chr17:7357758 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.58+4A>G single nucleotide variant Congenital myasthenic syndrome 2A [RCV003100361] Chr17:7445189 [GRCh38]
Chr17:7348508 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1245_1247delinsATC (p.Asp415_Leu416delinsGluSer) indel Congenital myasthenic syndrome 2A [RCV002998925] Chr17:7455821..7455823 [GRCh38]
Chr17:7359140..7359142 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.288C>A (p.Asp96Glu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002912550] Chr17:7446877 [GRCh38]
Chr17:7350196 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.406G>T (p.Asp136Tyr) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003078342] Chr17:7447095 [GRCh38]
Chr17:7350414 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.593A>C (p.His198Pro) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002736315] Chr17:7447633 [GRCh38]
Chr17:7350952 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.504G>T (p.Val168=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003077752] Chr17:7447544 [GRCh38]
Chr17:7350863 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.92G>A (p.Arg31Gln) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002637079] Chr17:7445303 [GRCh38]
Chr17:7348622 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1005C>T (p.Arg335=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002766591]|not provided [RCV003146622] Chr17:7454481 [GRCh38]
Chr17:7357800 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000747.3(CHRNB1):c.13G>A (p.Ala5Thr) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002895053]|Inborn genetic diseases [RCV003348923] Chr17:7445140 [GRCh38]
Chr17:7348459 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.993C>T (p.Asn331=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003025761] Chr17:7454469 [GRCh38]
Chr17:7357788 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.29TGGGGGCGC[1] (p.10LGA[1]) microsatellite Congenital myasthenic syndrome 2A [RCV002954002] Chr17:7445154..7445162 [GRCh38]
Chr17:7348473..7348481 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.689G>A (p.Gly230Glu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002890443]|not provided [RCV003146652] Chr17:7448657 [GRCh38]
Chr17:7351976 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1096G>A (p.Glu366Lys) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002625791] Chr17:7455335 [GRCh38]
Chr17:7358654 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.199-2A>C single nucleotide variant Congenital myasthenic syndrome 2A [RCV003005042]|not provided [RCV003146722] Chr17:7446067 [GRCh38]
Chr17:7349386 [GRCh37]
Chr17:17p13.1		 likely pathogenic|uncertain significance
NM_000747.3(CHRNB1):c.1329C>T (p.Ile443=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002741806] Chr17:7455905 [GRCh38]
Chr17:7359224 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.610+13G>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV002700057] Chr17:7447663 [GRCh38]
Chr17:7350982 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1410C>T (p.Leu470=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002663860] Chr17:7456627 [GRCh38]
Chr17:7359946 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.67G>A (p.Gly23Ser) single nucleotide variant Inborn genetic diseases [RCV002742146] Chr17:7445278 [GRCh38]
Chr17:7348597 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1279G>A (p.Val427Met) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002650442] Chr17:7455855 [GRCh38]
Chr17:7359174 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.353+5_353+7del deletion Congenital myasthenic syndrome 2A [RCV002633143] Chr17:7446945..7446947 [GRCh38]
Chr17:7350264..7350266 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.515A>G (p.Tyr172Cys) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002633022] Chr17:7447555 [GRCh38]
Chr17:7350874 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.299C>T (p.Ser100Leu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002942077] Chr17:7446888 [GRCh38]
Chr17:7350207 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1291C>T (p.Pro431Ser) single nucleotide variant Inborn genetic diseases [RCV002878155] Chr17:7455867 [GRCh38]
Chr17:7359186 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.165C>G (p.Ser55Arg) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003061355] Chr17:7445376 [GRCh38]
Chr17:7348695 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1062T>G (p.Leu354=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002962027] Chr17:7455301 [GRCh38]
Chr17:7358620 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.198+17G>C single nucleotide variant Congenital myasthenic syndrome 2A [RCV002922028] Chr17:7445426 [GRCh38]
Chr17:7348745 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1072_1073del (p.Leu358fs) deletion Congenital myasthenic syndrome 2A [RCV002857686] Chr17:7455311..7455312 [GRCh38]
Chr17:7358630..7358631 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_000747.3(CHRNB1):c.354C>T (p.Asn118=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003026919] Chr17:7447043 [GRCh38]
Chr17:7350362 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.477C>G (p.Pro159=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002937420] Chr17:7447517 [GRCh38]
Chr17:7350836 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.58+12C>A single nucleotide variant Congenital myasthenic syndrome 2A [RCV002895470] Chr17:7445197 [GRCh38]
Chr17:7348516 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1102_1103del (p.Asp368fs) microsatellite Congenital myasthenic syndrome 2A [RCV003030264] Chr17:7455335..7455336 [GRCh38]
Chr17:7358654..7358655 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_000747.3(CHRNB1):c.611-6C>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV003030266] Chr17:7448573 [GRCh38]
Chr17:7351892 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1164T>C (p.Asp388=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002598727] Chr17:7455403 [GRCh38]
Chr17:7358722 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.557G>A (p.Gly186Asp) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002939045] Chr17:7447597 [GRCh38]
Chr17:7350916 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.981C>T (p.Val327=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003092791] Chr17:7454457 [GRCh38]
Chr17:7357776 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1195T>C (p.Phe399Leu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002815044] Chr17:7455434 [GRCh38]
Chr17:7358753 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.715C>T (p.Leu239Phe) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002942832]|Inborn genetic diseases [RCV002942831] Chr17:7448683 [GRCh38]
Chr17:7352002 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.901A>G (p.Thr301Ala) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002942226] Chr17:7454377 [GRCh38]
Chr17:7357696 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.233A>G (p.Tyr78Cys) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003071476] Chr17:7446103 [GRCh38]
Chr17:7349422 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1472C>T (p.Thr491Met) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002588946] Chr17:7456689 [GRCh38]
Chr17:7360008 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1217+15G>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV002605771] Chr17:7455471 [GRCh38]
Chr17:7358790 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1306G>T (p.Val436Phe) single nucleotide variant Congenital myasthenic syndrome 2A [RCV002607665] Chr17:7455882 [GRCh38]
Chr17:7359201 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.621G>A (p.Gln207=) single nucleotide variant not provided [RCV003144936] Chr17:7448589 [GRCh38]
Chr17:7351908 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1331C>G (p.Ala444Gly) single nucleotide variant not provided [RCV003144928] Chr17:7455907 [GRCh38]
Chr17:7359226 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.58+1G>C single nucleotide variant not provided [RCV003144929] Chr17:7445186 [GRCh38]
Chr17:7348505 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.950T>A (p.Val317Asp) single nucleotide variant not provided [RCV003144931] Chr17:7454426 [GRCh38]
Chr17:7357745 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1110G>A (p.Met370Ile) single nucleotide variant not provided [RCV003144932] Chr17:7455349 [GRCh38]
Chr17:7358668 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.133G>A (p.Ala45Thr) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003588871]|not provided [RCV003144933] Chr17:7445344 [GRCh38]
Chr17:7348663 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.825G>T (p.Glu275Asp) single nucleotide variant not provided [RCV003144934] Chr17:7454301 [GRCh38]
Chr17:7357620 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.428C>A (p.Pro143His) single nucleotide variant not provided [RCV003144935] Chr17:7447117 [GRCh38]
Chr17:7350436 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1 copy number loss not provided [RCV003222936] Chr17:7004894..7766789 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_000747.3(CHRNB1):c.947T>C (p.Met316Thr) single nucleotide variant Inborn genetic diseases [RCV003261180] Chr17:7454423 [GRCh38]
Chr17:7357742 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.709T>G (p.Phe237Val) single nucleotide variant Inborn genetic diseases [RCV003309870] Chr17:7448677 [GRCh38]
Chr17:7351996 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.1(chr17:7454200-7454618)x0 copy number loss Congenital myasthenic syndrome 2C [RCV003327667] Chr17:7454200..7454618 [GRCh38]
Chr17:17p13.1		 pathogenic
NM_000747.3(CHRNB1):c.442C>T (p.Arg148Cys) single nucleotide variant Congenital myasthenic syndrome 2C [RCV003340896] Chr17:7447131 [GRCh38]
Chr17:7350450 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1405C>T (p.Arg469Cys) single nucleotide variant CHRNB1-related disorder [RCV003418851]|Congenital myasthenic syndrome 2A [RCV003778299] Chr17:7456622 [GRCh38]
Chr17:7359941 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1019A>C (p.His340Pro) single nucleotide variant Inborn genetic diseases [RCV003383606] Chr17:7454495 [GRCh38]
Chr17:7357814 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.959C>T (p.Thr320Ile) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003874526] Chr17:7454435 [GRCh38]
Chr17:7357754 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.512C>T (p.Ser171Phe) single nucleotide variant not provided [RCV003428097] Chr17:7447552 [GRCh38]
Chr17:7350871 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.58+1G>A single nucleotide variant CHRNB1-related disorder [RCV003405756]|Congenital myasthenic syndrome 2A [RCV003588903] Chr17:7445186 [GRCh38]
Chr17:7348505 [GRCh37]
Chr17:17p13.1		 likely pathogenic|uncertain significance
NM_000747.3(CHRNB1):c.353+1del deletion Congenital myasthenic syndrome 2A [RCV003444407] Chr17:7446943 [GRCh38]
Chr17:7350262 [GRCh37]
Chr17:17p13.1		 likely pathogenic
NM_000747.3(CHRNB1):c.372C>T (p.Asp124=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003879393] Chr17:7447061 [GRCh38]
Chr17:7350380 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.427C>A (p.Pro143Thr) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003877479] Chr17:7447116 [GRCh38]
Chr17:7350435 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.859C>G (p.Leu287Val) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003751329] Chr17:7454335 [GRCh38]
Chr17:7357654 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.850C>T (p.Leu284=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003751301] Chr17:7454326 [GRCh38]
Chr17:7357645 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1205C>G (p.Pro402Arg) single nucleotide variant CHRNB1-related disorder [RCV003893370]|Congenital myasthenic syndrome 2A [RCV003751550] Chr17:7455444 [GRCh38]
Chr17:7358763 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1365+18G>A single nucleotide variant Congenital myasthenic syndrome 2A [RCV003752055] Chr17:7455959 [GRCh38]
Chr17:7359278 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.695G>A (p.Arg232His) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003751022] Chr17:7448663 [GRCh38]
Chr17:7351982 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1234T>C (p.Ser412Pro) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003751324] Chr17:7455810 [GRCh38]
Chr17:7359129 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.327G>C (p.Trp109Cys) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003751505] Chr17:7446916 [GRCh38]
Chr17:7350235 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.433G>A (p.Gly145Ser) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003752298] Chr17:7447122 [GRCh38]
Chr17:7350441 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.312G>A (p.Thr104=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003750724] Chr17:7446901 [GRCh38]
Chr17:7350220 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1198C>G (p.Leu400Val) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003751710] Chr17:7455437 [GRCh38]
Chr17:7358756 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.745C>T (p.Leu249=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003751854] Chr17:7448713 [GRCh38]
Chr17:7352032 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1044+14C>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV003750647] Chr17:7454534 [GRCh38]
Chr17:7357853 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.309C>G (p.Ile103Met) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003814454] Chr17:7446898 [GRCh38]
Chr17:7350217 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.432G>A (p.Pro144=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003832635] Chr17:7447121 [GRCh38]
Chr17:7350440 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.523G>A (p.Asp175Asn) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003750623] Chr17:7447563 [GRCh38]
Chr17:7350882 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.199-8C>G single nucleotide variant Congenital myasthenic syndrome 2A [RCV003750597] Chr17:7446061 [GRCh38]
Chr17:7349380 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1112C>T (p.Pro371Leu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003750638] Chr17:7455351 [GRCh38]
Chr17:7358670 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1322G>A (p.Ser441Asn) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003751033] Chr17:7455898 [GRCh38]
Chr17:7359217 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.216G>C (p.Glu72Asp) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003751084] Chr17:7446086 [GRCh38]
Chr17:7349405 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1481T>C (p.Leu494Ser) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003833945] Chr17:7456698 [GRCh38]
Chr17:7360017 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.172C>T (p.Leu58Phe) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003752554] Chr17:7445383 [GRCh38]
Chr17:7348702 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1268C>T (p.Pro423Leu) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003751830] Chr17:7455844 [GRCh38]
Chr17:7359163 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.429C>G (p.Pro143=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003589024] Chr17:7447118 [GRCh38]
Chr17:7350437 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.137G>A (p.Arg46Gln) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003590145] Chr17:7445348 [GRCh38]
Chr17:7348667 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.189C>T (p.Leu63=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003589191] Chr17:7445400 [GRCh38]
Chr17:7348719 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.198+14G>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV003818687] Chr17:7445423 [GRCh38]
Chr17:7348742 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1147T>A (p.Trp383Arg) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003588988] Chr17:7455386 [GRCh38]
Chr17:7358705 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.21G>C (p.Leu7=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003861080] Chr17:7445148 [GRCh38]
Chr17:7348467 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.485G>C (p.Trp162Ser) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003860904] Chr17:7447525 [GRCh38]
Chr17:7350844 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.198+7G>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV003865530] Chr17:7445416 [GRCh38]
Chr17:7348735 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.241C>G (p.Leu81Val) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003588086] Chr17:7446111 [GRCh38]
Chr17:7349430 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.979G>A (p.Val327Ile) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003871520] Chr17:7454455 [GRCh38]
Chr17:7357774 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1162G>T (p.Asp388Tyr) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003866687] Chr17:7455401 [GRCh38]
Chr17:7358720 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.23T>G (p.Met8Arg) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003589463] Chr17:7445150 [GRCh38]
Chr17:7348469 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.244-14C>G single nucleotide variant Congenital myasthenic syndrome 2A [RCV003872335] Chr17:7446819 [GRCh38]
Chr17:7350138 [GRCh37]
Chr17:17p13.1		 likely benign
GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1 copy number loss not specified [RCV003987240] Chr17:7002380..7469251 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
NM_000747.3(CHRNB1):c.408C>T (p.Asp136=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003867675] Chr17:7447097 [GRCh38]
Chr17:7350416 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1039C>T (p.Arg347Cys) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003590686] Chr17:7454515 [GRCh38]
Chr17:7357834 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.404C>T (p.Ser135Phe) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003589027] Chr17:7447093 [GRCh38]
Chr17:7350412 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.796G>A (p.Val266Ile) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003589451] Chr17:7448764 [GRCh38]
Chr17:7352083 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.399G>A (p.Val133=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003589164] Chr17:7447088 [GRCh38]
Chr17:7350407 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.462+20G>A single nucleotide variant Congenital myasthenic syndrome 2A [RCV003847811] Chr17:7447171 [GRCh38]
Chr17:7350490 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.757_820+135del deletion Congenital myasthenic syndrome 2A [RCV003589697] Chr17:7448724..7448922 [GRCh38]
Chr17:7352043..7352241 [GRCh37]
Chr17:17p13.1		 likely pathogenic
NM_000747.3(CHRNB1):c.1217+10C>T single nucleotide variant Congenital myasthenic syndrome 2A [RCV003589649] Chr17:7455466 [GRCh38]
Chr17:7358785 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1380G>A (p.Trp460Ter) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003589766] Chr17:7456597 [GRCh38]
Chr17:7359916 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.306C>T (p.Arg102=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003821930] Chr17:7446895 [GRCh38]
Chr17:7350214 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.271G>A (p.Asp91Asn) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003588230] Chr17:7446860 [GRCh38]
Chr17:7350179 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.784C>T (p.Leu262=) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003590191] Chr17:7448752 [GRCh38]
Chr17:7352071 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.157A>G (p.Arg53Gly) single nucleotide variant Inborn genetic diseases [RCV004441508] Chr17:7445368 [GRCh38]
Chr17:7348687 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000747.3(CHRNB1):c.1177C>T (p.Arg393Trp) single nucleotide variant CHRNB1-related disorder [RCV003979658] Chr17:7455416 [GRCh38]
Chr17:7358735 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000747.3(CHRNB1):c.1071C>A (p.Tyr357Ter) single nucleotide variant Congenital myasthenic syndrome 2A [RCV003991144] Chr17:7455310 [GRCh38]
Chr17:7358629 [GRCh37]
Chr17:17p13.1		 likely pathogenic
NC_000017.10:g.(?_7123304)_(7360042_?)del deletion Very long chain acyl-CoA dehydrogenase deficiency [RCV004581341] Chr17:7123304..7360042 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_422368)_(8285628_?)dup duplication not provided [RCV004581443] Chr17:422368..8285628 [GRCh37]
Chr17:17p13.3-13.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2445
Count of miRNA genes:840
Interacting mature miRNAs:1014
Transcripts:ENST00000306071, ENST00000536404, ENST00000570557, ENST00000572857, ENST00000573209, ENST00000574054, ENST00000575379, ENST00000576360
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407248420GWAS897396_Hbody fat percentage QTL GWAS897396 (human)1e-09body fat percentagebody fat percentage (CMO:0000302)1774553917455392Human
407246242GWAS895218_Hbody fat percentage QTL GWAS895218 (human)2e-13body fat percentagebody fat percentage (CMO:0000302)1774560467456047Human
407113281GWAS762257_HBMI-adjusted waist circumference QTL GWAS762257 (human)4e-09BMI-adjusted waist circumference1774520507452051Human
407103716GWAS752692_Hcentral corneal thickness QTL GWAS752692 (human)2e-11central corneal thickness1774523027452303Human
407158115GWAS807091_Hbody height QTL GWAS807091 (human)1e-300body height (VT:0001253)body height (CMO:0000106)1774545457454546Human
407091755GWAS740731_Hcognitive function measurement QTL GWAS740731 (human)0.000001cognitive function measurement1774494147449415Human
407246989GWAS895965_Hbody fat percentage QTL GWAS895965 (human)6e-15body fat percentagebody fat percentage (CMO:0000302)1774553917455392Human
407102927GWAS751903_Hsex hormone-binding globulin measurement QTL GWAS751903 (human)6e-13sex hormone-binding globulin measurement1774567917456792Human
407098035GWAS747011_HParkinson disease QTL GWAS747011 (human)1e-08Parkinson disease1774523027452303Human
407107059GWAS756035_HVaricose veins QTL GWAS756035 (human)3e-09Varicose veins1774481607448161Human
407137777GWAS786753_Hdiverticular disease QTL GWAS786753 (human)9e-14diverticular disease1774523027452303Human
407105013GWAS753989_HBMI-adjusted waist circumference QTL GWAS753989 (human)3e-08BMI-adjusted waist circumference1774523027452303Human
407103743GWAS752719_Hcorneal resistance factor QTL GWAS752719 (human)7e-11corneal resistance factor1774523027452303Human
407099612GWAS748588_Htestosterone measurement QTL GWAS748588 (human)2e-09testosterone measurementserum testosterone level (CMO:0000568)1774567917456792Human

Markers in Region
AFM238WF2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,349,557 - 7,349,722UniSTSGRCh37
Build 36177,290,281 - 7,290,446RGDNCBI36
Celera177,375,445 - 7,375,604RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,243,502 - 7,243,661UniSTS
STS-X14830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,359,968 - 7,360,114UniSTSGRCh37
Build 36177,300,692 - 7,300,838RGDNCBI36
Celera177,385,919 - 7,386,065RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,253,661 - 7,253,807UniSTS
GeneMap99-GB4 RH Map1746.44UniSTS
NCBI RH Map17232.3UniSTS
RH78385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,348,043 - 7,348,197UniSTSGRCh37
Build 36177,288,767 - 7,288,921RGDNCBI36
Celera177,373,931 - 7,374,085RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,241,988 - 7,242,142UniSTS
GDB:186812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,350,425 - 7,350,861UniSTSGRCh37
Build 36177,291,149 - 7,291,585RGDNCBI36
Celera177,376,307 - 7,376,743RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,244,364 - 7,244,800UniSTS
GDB:186817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,349,577 - 7,349,742UniSTSGRCh37
Build 36177,290,301 - 7,290,466RGDNCBI36
Celera177,375,465 - 7,375,624RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,243,522 - 7,243,681UniSTS
FGF11_2203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,347,464 - 7,348,272UniSTSGRCh37
Build 36177,288,188 - 7,288,996RGDNCBI36
Celera177,373,352 - 7,374,160RGD
HuRef177,241,409 - 7,242,217UniSTS
STS-W57641  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,348,015 - 7,348,195UniSTSGRCh37
Build 36177,288,739 - 7,288,919RGDNCBI36
Celera177,373,903 - 7,374,083RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,241,960 - 7,242,140UniSTS
GeneMap99-GB4 RH Map1753.5UniSTS
IB1796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,360,682 - 7,360,858UniSTSGRCh37
Build 36177,301,406 - 7,301,582RGDNCBI36
Celera177,386,633 - 7,386,809RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,254,375 - 7,254,551UniSTS
GeneMap99-GB4 RH Map1753.9UniSTS
Whitehead-RH Map1780.2UniSTS
G30483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,348,110 - 7,348,242UniSTSGRCh37
Build 36177,288,834 - 7,288,966RGDNCBI36
Celera177,373,998 - 7,374,130RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,242,055 - 7,242,187UniSTS
D11S2612  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq13.2-q21.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
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Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2436 2788 2251 4968 1726 2349 6 624 1950 464 2270 7300 6468 53 3729 1 850 1739 1616 175 1

Sequence


Ensembl Acc Id: ENST00000306071   ⟹   ENSP00000304290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,445,061 - 7,457,710 (+)Ensembl
Ensembl Acc Id: ENST00000536404   ⟹   ENSP00000439209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,445,503 - 7,456,926 (+)Ensembl
Ensembl Acc Id: ENST00000570557   ⟹   ENSP00000460648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,445,339 - 7,455,860 (+)Ensembl
Ensembl Acc Id: ENST00000572857   ⟹   ENSP00000461402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,445,064 - 7,447,089 (+)Ensembl
Ensembl Acc Id: ENST00000573209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,445,543 - 7,455,689 (+)Ensembl
Ensembl Acc Id: ENST00000574054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,445,108 - 7,445,774 (+)Ensembl
Ensembl Acc Id: ENST00000575379   ⟹   ENSP00000461751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,455,594 - 7,457,329 (+)Ensembl
Ensembl Acc Id: ENST00000576360   ⟹   ENSP00000459092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,445,531 - 7,457,315 (+)Ensembl
RefSeq Acc Id: NM_000747   ⟹   NP_000738
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,445,061 - 7,457,710 (+)NCBI
GRCh37177,348,406 - 7,360,932 (+)ENTREZGENE
GRCh37177,348,406 - 7,360,932 (+)NCBI
Build 36177,289,130 - 7,301,656 (+)NCBI Archive
HuRef177,242,351 - 7,254,625 (+)ENTREZGENE
CHM1_1177,357,504 - 7,370,035 (+)NCBI
T2T-CHM13v2.0177,349,120 - 7,361,750 (+)NCBI
Sequence:
RefSeq Acc Id: NP_000738   ⟸   NM_000747
- Peptide Label: precursor
- UniProtKB: Q8IZ46 (UniProtKB/Swiss-Prot),   B7Z5H1 (UniProtKB/Swiss-Prot),   Q96FB8 (UniProtKB/Swiss-Prot),   P11230 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000304290   ⟸   ENST00000306071
Ensembl Acc Id: ENSP00000460648   ⟸   ENST00000570557
Ensembl Acc Id: ENSP00000461402   ⟸   ENST00000572857
Ensembl Acc Id: ENSP00000461751   ⟸   ENST00000575379
Ensembl Acc Id: ENSP00000439209   ⟸   ENST00000536404
Ensembl Acc Id: ENSP00000459092   ⟸   ENST00000576360
Protein Domains
Neurotransmitter-gated ion-channel ligand-binding   Neurotransmitter-gated ion-channel transmembrane

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P11230-F1-model_v2 AlphaFold P11230 1-501 view protein structure

Promoters
RGD ID:7233759
Promoter ID:EPDNEW_H22625
Type:initiation region
Name:CHRNB1_1
Description:cholinergic receptor nicotinic beta 1 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,445,094 - 7,445,154EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1961 AgrOrtholog
COSMIC CHRNB1 COSMIC
Ensembl Genes ENSG00000170175 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000283946 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000306071 ENTREZGENE
  ENST00000306071.7 UniProtKB/Swiss-Prot
  ENST00000536404.6 UniProtKB/Swiss-Prot
  ENST00000570557.5 UniProtKB/TrEMBL
  ENST00000572857.5 UniProtKB/TrEMBL
  ENST00000575379.1 UniProtKB/TrEMBL
  ENST00000576360.1 UniProtKB/TrEMBL
  ENST00000638556.1 UniProtKB/TrEMBL
  ENST00000638662.1 UniProtKB/TrEMBL
  ENST00000638943.1 UniProtKB/TrEMBL
  ENST00000639509.1 UniProtKB/TrEMBL
  ENST00000639692.2 UniProtKB/Swiss-Prot
  ENST00000639993.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.58.390 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.70.170.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000170175 GTEx
  ENSG00000283946 GTEx
HGNC ID HGNC:1961 ENTREZGENE
Human Proteome Map CHRNB1 Human Proteome Map
InterPro Neur_chan_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_lig-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuro-gated_channel_TM_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuro_actylchol_rec UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurotrans-gated_channel_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurotransmitter_ion_chnl_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nicotinic_acetylcholine_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1140 UniProtKB/Swiss-Prot
NCBI Gene 1140 ENTREZGENE
OMIM 100710 OMIM
PANTHER ACETYLCHOLINE RECEPTOR SUBUNIT BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18945 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Neur_chan_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_memb UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26494 PharmGKB
PRINTS NICOTINICR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NRIONCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NEUROTR_ION_CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF63712 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ACHB_HUMAN UniProtKB/Swiss-Prot
  B7Z5H1 ENTREZGENE
  I3L1T7_HUMAN UniProtKB/TrEMBL
  I3L3Q9_HUMAN UniProtKB/TrEMBL
  I3L4N5_HUMAN UniProtKB/TrEMBL
  I3L535_HUMAN UniProtKB/TrEMBL
  P11230 ENTREZGENE
  Q8IZ46 ENTREZGENE
  Q96FB8 ENTREZGENE
UniProt Secondary B7Z5H1 UniProtKB/Swiss-Prot
  Q8IZ46 UniProtKB/Swiss-Prot
  Q96FB8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CHRNB1  cholinergic receptor nicotinic beta 1 subunit  CHRNB1  cholinergic receptor, nicotinic beta 1  Symbol and/or name change 5135510 APPROVED
2015-12-15 CHRNB1  cholinergic receptor, nicotinic beta 1  CHRNB1  cholinergic receptor, nicotinic, beta 1 (muscle)  Symbol and/or name change 5135510 APPROVED