SMC1A (structural maintenance of chromosomes 1A) - Rat Genome Database

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Gene: SMC1A (structural maintenance of chromosomes 1A) Homo sapiens
Analyze
Symbol: SMC1A
Name: structural maintenance of chromosomes 1A
RGD ID: 737070
HGNC Page HGNC
Description: Exhibits chromatin binding activity and protein heterodimerization activity. Involved in several processes, including mitotic spindle assembly; response to DNA damage checkpoint signaling; and sister chromatid cohesion. Localizes to several cellular components, including chromosome; mitotic spindle pole; and nuclear lumen. Implicated in Cornelia de Lange syndrome 2 and early infantile epileptic encephalopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CDLS2; DEE85; DKFZp686L19178; DXS423E; EIEE85; KIAA0178; MGC138332; SB1.8; segregation of mitotic chromosomes 1; SMC protein 1A; SMC-1-alpha; SMC-1A; smc-like 1 (yeast); SMC1; SMC1 (structural maintenance of chromosomes 1, yeast)-like 1; SMC1 structural maintenance of chromosomes 1-like 1; SMC1alpha; SMC1L1; SMCB; structural maintenance of chromosomes protein 1A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX53,374,149 - 53,422,728 (-)EnsemblGRCh38hg38GRCh38
GRCh38X53,374,149 - 53,422,728 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X53,401,070 - 53,449,677 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X53,417,795 - 53,466,343 (-)NCBINCBI36hg18NCBI36
Build 34X53,284,090 - 53,332,639NCBI
CeleraX57,232,626 - 57,281,175 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX50,459,360 - 50,507,305 (-)NCBIHuRef
CHM1_1X53,391,525 - 53,440,144 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
4-vinylcyclohexene dioxide  (ISO)
acrylamide  (EXP)
ammonium chloride  (ISO)
arecoline  (EXP)
Aroclor 1254  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bleomycin A2  (EXP)
bortezomib  (EXP)
busulfan  (EXP)
butanal  (EXP)
Butylparaben  (EXP)
chromium(6+)  (EXP)
chrysene  (ISO)
clofarabine  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
coumestrol  (EXP)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
finasteride  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
furan  (ISO)
geldanamycin  (EXP)
glyphosate  (EXP)
hydrogen peroxide  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
linsidomine  (ISO)
lycopene  (EXP)
menadione  (EXP,ISO)
methapyrilene  (ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
methylparaben  (EXP)
myristicin  (EXP)
N-acetyl-L-cysteine  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
oxaliplatin  (ISO)
paracetamol  (EXP)
paraquat  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
sulindac  (ISO)
thimerosal  (EXP)
topotecan  (ISO)
torcetrapib  (EXP)
Tributyltin oxide  (ISO)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
1-2 toe syndactyly  (IAGP)
Abnormal brainstem morphology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal heart rate variability  (IAGP)
Abnormal hypothalamus physiology  (IAGP)
Abnormal morphology of the olfactory bulb  (IAGP)
Abnormality of the autonomic nervous system  (IAGP)
Abnormality of the elbow  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the uterus  (IAGP)
Abnormally low-pitched voice  (IAGP)
Absent speech  (IAGP)
Accelerated skeletal maturation  (IAGP)
Agenesis of corpus callosum  (IAGP)
Aggressive behavior  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Aplasia of the falx cerebri  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the ribs  (IAGP)
Aspiration pneumonia  (IAGP)
Atresia of the external auditory canal  (IAGP)
Atrial septal defect  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Bifid uvula  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Blepharitis  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Broad hallux  (IAGP)
Cataract  (IAGP)
Central apnea  (IAGP)
Central hypothyroidism  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Choanal atresia  (IAGP)
Chronic lung disease  (IAGP)
Cleft palate  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Cognitive impairment  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital onset  (IAGP)
Congenital, generalized hypertrichosis  (IAGP)
Constipation  (IAGP)
Contracture of the proximal interphalangeal joint of the 3rd finger  (IAGP)
Cryptorchidism  (IAGP)
Curly eyelashes  (IAGP)
Cutis marmorata  (IAGP)
Cyclopia  (IAGP)
Decreased response to growth hormone stimuation test  (IAGP)
Deeply set eye  (IAGP)
Delayed ability to walk  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed gross motor development  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Depressivity  (IAGP)
Diabetes insipidus  (IAGP)
Dilatation of renal calices  (IAGP)
Dolichocephaly  (IAGP)
Downslanted palpebral fissures  (IAGP)
Downturned corners of mouth  (IAGP)
Dysphagia  (IAGP)
Elbow dislocation  (IAGP)
Epicanthus  (IAGP)
Facial asymmetry  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flat face  (IAGP)
Flexion contracture  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hirsutism  (IAGP)
Generalized hypotonia  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hip dislocation  (IAGP)
Hip dysplasia  (IAGP)
Hirsutism  (IAGP)
Hydrocephalus  (IAGP)
Hyperactivity  (IAGP)
Hyperextensibility at elbow  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic labia majora  (IAGP)
Hypoplastic nipples  (IAGP)
Hypospadias  (IAGP)
Hypotelorism  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Inability to walk  (IAGP)
Increased nuchal translucency  (IAGP)
Infantile axial hypotonia  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Intestinal malrotation  (IAGP)
Intrauterine growth retardation  (IAGP)
Irritability  (IAGP)
Joint stiffness  (IAGP)
Lethargy  (IAGP)
Limb dystonia  (IAGP)
Limited elbow movement  (IAGP)
Long eyelashes  (IAGP)
Long philtrum  (IAGP)
Low anterior hairline  (IAGP)
Low frustration tolerance  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Median cleft lip  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Midface retrusion  (IAGP)
Morphological abnormality of the gastrointestinal tract  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Multifocal seizures  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Myopia  (IAGP)
Narrow forehead  (IAGP)
Narrow nose  (IAGP)
Neural tube defect  (IAGP)
Neurological speech impairment  (IAGP)
Nystagmus  (IAGP)
Obsessive-compulsive behavior  (IAGP)
Oligodactyly  (IAGP)
Oromotor apraxia  (IAGP)
Overfolded helix  (IAGP)
Panhypopituitarism  (IAGP)
Partial anomalous pulmonary venous return  (IAGP)
Pectus excavatum  (IAGP)
Peripheral neuropathy  (IAGP)
Phthisis bulbi  (IAGP)
Poor eye contact  (IAGP)
Poor speech  (IAGP)
Poor suck  (IAGP)
Posteriorly rotated ears  (IAGP)
Postnatal growth retardation  (IAGP)
Premature birth  (IAGP)
Prenatal movement abnormality  (IAGP)
Primary amenorrhea  (IAGP)
Proboscis  (IAGP)
Prominent nasal bridge  (IAGP)
Proximal placement of thumb  (IAGP)
Psychomotor deterioration  (IAGP)
Ptosis  (IAGP)
Pyloric stenosis  (IAGP)
Radioulnar synostosis  (IAGP)
Renal insufficiency  (IAGP)
Retrognathia  (IAGP)
Rhizomelia  (IAGP)
Round face  (IAGP)
Sacral dimple  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Seizure cluster  (IAGP)
Semilobar holoprosencephaly  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Severe postnatal growth retardation  (IAGP)
Short 1st metacarpal  (IAGP)
Short attention span  (IAGP)
Short foot  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short palpebral fissure  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Single median maxillary incisor  (IAGP)
Single naris  (IAGP)
Sleep disturbance  (IAGP)
Sleep-wake cycle disturbance  (IAGP)
Small hand  (IAGP)
Smooth philtrum  (IAGP)
Spastic tetraparesis  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Stereotypy  (IAGP)
Strabismus  (IAGP)
Synophrys  (IAGP)
Talipes  (IAGP)
Tapered finger  (IAGP)
Telecanthus  (IAGP)
Temperature instability  (IAGP)
Thick eyebrow  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Toe syndactyly  (IAGP)
Triangular face  (IAGP)
Truncal obesity  (IAGP)
Unilateral ptosis  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Vesicoureteral reflux  (IAGP)
Volvulus  (IAGP)
Vomiting  (IAGP)
Webbed neck  (IAGP)
Wide nasal bridge  (IAGP)
Widely spaced teeth  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:7757074   PMID:7757075   PMID:8076819   PMID:8724849   PMID:9295362   PMID:9789013   PMID:10409732   PMID:10931856   PMID:11076961   PMID:11483963   PMID:11564881   PMID:11590136  
PMID:11682612   PMID:11790298   PMID:11877376   PMID:11877377   PMID:12168954   PMID:12198550   PMID:12199140   PMID:12226669   PMID:12477932   PMID:12607005   PMID:12759374   PMID:12930902  
PMID:14657349   PMID:14702039   PMID:15302935   PMID:15342556   PMID:15489334   PMID:15546961   PMID:15635413   PMID:15640246   PMID:15737063   PMID:15772651   PMID:15837422   PMID:15855230  
PMID:15917200   PMID:16043481   PMID:16159877   PMID:16226712   PMID:16242161   PMID:16391231   PMID:16438930   PMID:16604071   PMID:16623664   PMID:17102637   PMID:17106445   PMID:17112726  
PMID:17113138   PMID:17148452   PMID:17242407   PMID:17273969   PMID:17349791   PMID:17353931   PMID:17544403   PMID:17925232   PMID:18029348   PMID:18219272   PMID:18239623   PMID:18299561  
PMID:18385154   PMID:18763866   PMID:18832153   PMID:18996922   PMID:19052029   PMID:19308699   PMID:19414588   PMID:19468298   PMID:19615732   PMID:19629043   PMID:19701948   PMID:20016259  
PMID:20085707   PMID:20159591   PMID:20301283   PMID:20301533   PMID:20301702   PMID:20348541   PMID:20358602   PMID:20360068   PMID:20467437   PMID:20514443   PMID:20562859   PMID:20635401  
PMID:20670891   PMID:20720539   PMID:20818333   PMID:21043528   PMID:21056556   PMID:21081666   PMID:21111234   PMID:21145461   PMID:21242291   PMID:21319273   PMID:21549307   PMID:21757780  
PMID:21873635   PMID:21875947   PMID:21880767   PMID:22145905   PMID:22268729   PMID:22628566   PMID:22681889   PMID:22751105   PMID:22751501   PMID:22863883   PMID:22885700   PMID:22939629  
PMID:22965847   PMID:22977523   PMID:23022380   PMID:23106691   PMID:23125841   PMID:23178491   PMID:23242214   PMID:23349634   PMID:23414517   PMID:23602568   PMID:23638217   PMID:23683030  
PMID:23717600   PMID:23752268   PMID:23754617   PMID:23776448   PMID:23863341   PMID:24124034   PMID:24136289   PMID:24169447   PMID:24255178   PMID:24332808   PMID:24457600   PMID:24711643  
PMID:24756084   PMID:24797263   PMID:24896178   PMID:24945803   PMID:24981860   PMID:25080505   PMID:25184681   PMID:25609649   PMID:25659154   PMID:25875106   PMID:25884313   PMID:25921289  
PMID:26095369   PMID:26186194   PMID:26206533   PMID:26299517   PMID:26344197   PMID:26358754   PMID:26386245   PMID:26446488   PMID:26496610   PMID:26508657   PMID:26527279   PMID:26549023  
PMID:26581180   PMID:26637483   PMID:26752331   PMID:26781859   PMID:26831064   PMID:26895426   PMID:26972000   PMID:27025967   PMID:27049334   PMID:27173435   PMID:27248496   PMID:27307603  
PMID:27634302   PMID:27667360   PMID:27684187   PMID:27739523   PMID:27826041   PMID:28102598   PMID:28137758   PMID:28166369   PMID:28416769   PMID:28514442   PMID:28515276   PMID:28548707  
PMID:28675297   PMID:28685749   PMID:28700943   PMID:28794006   PMID:28977666   PMID:29037998   PMID:29298432   PMID:29331416   PMID:29452578   PMID:29467282   PMID:29478914   PMID:29507117  
PMID:29507755   PMID:29509190   PMID:29511296   PMID:29564676   PMID:29568061   PMID:29844126   PMID:29845934   PMID:29860495   PMID:29867216   PMID:29988990   PMID:30021884   PMID:30154076  
PMID:30196744   PMID:30242889   PMID:30246348   PMID:30295920   PMID:30419336   PMID:30420784   PMID:30462309   PMID:30463901   PMID:30804502   PMID:30823889   PMID:30940648   PMID:30948266  
PMID:31010829   PMID:31048545   PMID:31091453   PMID:31180492   PMID:31239290   PMID:31300519   PMID:31334757   PMID:31452512   PMID:31551363   PMID:31586073   PMID:31620119   PMID:32129710  
PMID:32203420   PMID:32296183   PMID:32416067   PMID:32529326   PMID:32786267   PMID:32867711  


Genomics

Comparative Map Data
SMC1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX53,374,149 - 53,422,728 (-)EnsemblGRCh38hg38GRCh38
GRCh38X53,374,149 - 53,422,728 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X53,401,070 - 53,449,677 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X53,417,795 - 53,466,343 (-)NCBINCBI36hg18NCBI36
Build 34X53,284,090 - 53,332,639NCBI
CeleraX57,232,626 - 57,281,175 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX50,459,360 - 50,507,305 (-)NCBIHuRef
CHM1_1X53,391,525 - 53,440,144 (-)NCBICHM1_1
Smc1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X150,799,386 - 150,844,969 (+)NCBIGRCm39mm39
GRCm39 EnsemblX150,799,424 - 150,845,690 (+)Ensembl
GRCm38X152,016,428 - 152,061,973 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX152,016,428 - 152,062,694 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X148,450,971 - 148,496,516 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X147,357,144 - 147,402,683 (+)NCBImm8
CeleraX132,369,172 - 132,413,610 (-)NCBICelera
Cytogenetic MapXF3NCBI
Smc1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X21,103,323 - 21,148,053 (+)NCBI
Rnor_6.0 EnsemblX21,711,019 - 21,755,525 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X21,710,976 - 21,755,708 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X21,691,592 - 21,736,383 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X41,503,393 - 41,547,830 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X41,556,861 - 41,601,299 (+)NCBI
CeleraX21,378,634 - 21,423,365 (+)NCBICelera
Cytogenetic MapXq13NCBI
Smc1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955475421,409 - 468,324 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955475421,472 - 468,286 (-)NCBIChiLan1.0ChiLan1.0
SMC1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X53,697,154 - 53,745,641 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX53,697,154 - 53,745,636 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X45,576,100 - 45,637,314 (-)NCBIMhudiblu_PPA_v0panPan3
SMC1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X45,099,312 - 45,148,103 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX45,109,653 - 45,148,001 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX36,633,229 - 36,682,028 (-)NCBI
ROS_Cfam_1.0X45,424,145 - 45,472,953 (-)NCBI
UMICH_Zoey_3.1X44,919,324 - 44,968,108 (-)NCBI
UNSW_CanFamBas_1.0X45,368,982 - 45,417,772 (-)NCBI
UU_Cfam_GSD_1.0X45,436,314 - 45,485,351 (-)NCBI
Smc1a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X37,992,636 - 38,049,030 (-)NCBI
SpeTri2.0NW_004936751332,351 - 388,756 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMC1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX46,144,920 - 46,220,378 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X46,143,738 - 46,202,187 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X51,643,473 - 51,702,113 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SMC1A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X49,514,652 - 49,558,490 (-)NCBI
ChlSab1.1 EnsemblX49,515,061 - 49,558,447 (-)Ensembl
Vero_WHO_p1.0NW_0236660863,466,124 - 3,511,145 (-)NCBI
Smc1a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624909617,015 - 668,513 (-)NCBI

Position Markers
WI-13565  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,402,506 - 53,402,655UniSTSGRCh37
Build 36X53,419,231 - 53,419,380RGDNCBI36
CeleraX57,234,062 - 57,234,211RGD
Cytogenetic MapXp11.22-p11.21UniSTS
HuRefX50,460,796 - 50,460,945UniSTS
Whitehead-RH MapX95.4UniSTS
NCBI RH MapX290.3UniSTS
RH25393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,405,018 - 53,405,201UniSTSGRCh37
Build 36X53,421,743 - 53,421,926RGDNCBI36
CeleraX57,236,574 - 57,236,757RGD
Cytogenetic MapXp11.22-p11.21UniSTS
HuRefX50,463,308 - 50,463,491UniSTS
GeneMap99-GB4 RH MapX163.3UniSTS
NCBI RH MapX290.3UniSTS
AL023613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,430,820 - 53,430,957UniSTSGRCh37
Build 36X53,447,545 - 53,447,682RGDNCBI36
CeleraX57,262,376 - 57,262,513RGD
Cytogenetic MapXp11.22-p11.21UniSTS
HuRefX50,488,536 - 50,488,673UniSTS
RH26243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,406,163 - 53,406,349UniSTSGRCh37
Build 36X53,422,888 - 53,423,074RGDNCBI36
CeleraX57,237,719 - 57,237,905RGD
Cytogenetic MapXp11.22-p11.21UniSTS
HuRefX50,464,453 - 50,464,639UniSTS
DXS423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,440,288 - 53,440,388UniSTSGRCh37
GRCh37X53,401,819 - 53,402,094UniSTSGRCh37
Build 36X53,457,013 - 53,457,113RGDNCBI36
CeleraX57,233,375 - 57,233,650UniSTS
CeleraX57,271,844 - 57,271,944RGD
Cytogenetic MapXp11.22-p11.21UniSTS
HuRefX50,498,098 - 50,498,198UniSTS
HuRefX50,460,109 - 50,460,384UniSTS
SMC1L1__1206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,404,664 - 53,405,561UniSTSGRCh37
Build 36X53,421,389 - 53,422,286RGDNCBI36
CeleraX57,236,220 - 57,237,117RGD
HuRefX50,462,954 - 50,463,851UniSTS
STS-T70312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,405,295 - 53,405,479UniSTSGRCh37
Build 36X53,422,020 - 53,422,204RGDNCBI36
CeleraX57,236,851 - 57,237,035RGD
Cytogenetic MapXp11.22-p11.21UniSTS
HuRefX50,463,585 - 50,463,769UniSTS
GeneMap99-GB4 RH MapX163.3UniSTS
NCBI RH MapX290.3UniSTS
DXS423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.22-p11.21UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIRLET7Ehsa-let-7e-5pMirtarbaseexternal_infoLuciferase reporter assay//Reporter assay;OtherFunctional MTI15131085
MIRLET7Ehsa-let-7e-5pTarbaseexternal_infoReporter GenePOSITIVE
MIRLET7Ehsa-let-7e-3pMirecordsexternal_infoNANA15131085

Predicted Target Of
Summary Value
Count of predictions:3676
Count of miRNA genes:1328
Interacting mature miRNAs:1739
Transcripts:ENST00000322213, ENST00000375340, ENST00000428014, ENST00000463684, ENST00000469129, ENST00000470241
Prediction methods: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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2153 1677 1255 335 1286 198 4003 1469 1664 282 1250 1588 152 1 1113 2486 6 2
Low 286 1311 471 289 662 267 354 728 2070 137 210 25 23 91 302
Below cutoff 3 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_006988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001281463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC233728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF176781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC171726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP312805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ232418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D80000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z97054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000322213   ⟹   ENSP00000323421
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,374,149 - 53,422,654 (-)Ensembl
RefSeq Acc Id: ENST00000375340   ⟹   ENSP00000364489
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,374,149 - 53,422,728 (-)Ensembl
RefSeq Acc Id: ENST00000428014   ⟹   ENSP00000413509
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,412,900 - 53,422,017 (-)Ensembl
RefSeq Acc Id: ENST00000463684   ⟹   ENSP00000476958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,411,995 - 53,422,669 (-)Ensembl
RefSeq Acc Id: ENST00000469129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,381,678 - 53,382,646 (-)Ensembl
RefSeq Acc Id: ENST00000470241   ⟹   ENSP00000476416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,380,620 - 53,396,378 (-)Ensembl
RefSeq Acc Id: ENST00000674590   ⟹   ENSP00000502626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,380,054 - 53,422,728 (-)Ensembl
RefSeq Acc Id: ENST00000675065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,404,799 - 53,422,654 (-)Ensembl
RefSeq Acc Id: ENST00000675504   ⟹   ENSP00000502524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,374,149 - 53,422,173 (-)Ensembl
RefSeq Acc Id: NM_001281463   ⟹   NP_001268392
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,374,149 - 53,422,728 (-)NCBI
GRCh37X53,401,070 - 53,449,677 (-)NCBI
HuRefX50,459,360 - 50,507,305 (-)NCBI
CHM1_1X53,391,525 - 53,440,144 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006306   ⟹   NP_006297
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,374,149 - 53,422,654 (-)NCBI
GRCh37X53,401,070 - 53,449,677 (-)NCBI
Build 36X53,417,795 - 53,466,343 (-)NCBI Archive
HuRefX50,459,360 - 50,507,305 (-)NCBI
CHM1_1X53,391,525 - 53,440,144 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006297   ⟸   NM_006306
- Peptide Label: isoform 1
- UniProtKB: Q14683 (UniProtKB/Swiss-Prot),   Q68EN4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001268392   ⟸   NM_001281463
- Peptide Label: isoform 2
- UniProtKB: G8JLG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000476958   ⟸   ENST00000463684
RefSeq Acc Id: ENSP00000413509   ⟸   ENST00000428014
RefSeq Acc Id: ENSP00000323421   ⟸   ENST00000322213
RefSeq Acc Id: ENSP00000364489   ⟸   ENST00000375340
RefSeq Acc Id: ENSP00000476416   ⟸   ENST00000470241
RefSeq Acc Id: ENSP00000502626   ⟸   ENST00000674590
RefSeq Acc Id: ENSP00000502524   ⟸   ENST00000675504
Protein Domains
SMC hinge   SMC_N

Promoters
RGD ID:13605372
Promoter ID:EPDNEW_H28871
Type:initiation region
Name:SMC1A_1
Description:structural maintenance of chromosomes 1A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,422,654 - 53,422,714EPDNEW
RGD ID:6809280
Promoter ID:HG_KWN:66919
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000056759
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,425,826 - 53,427,172 (-)MPROMDB
RGD ID:6809282
Promoter ID:HG_KWN:66920
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000056760
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,439,546 - 53,440,267 (-)MPROMDB
RGD ID:6813839
Promoter ID:HG_ACW:83979
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:SMC1A.EAPR07,   SMC1A.JAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,449,041 - 53,449,541 (-)MPROMDB
RGD ID:6808673
Promoter ID:HG_KWN:66921
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000340213,   OTTHUMT00000056756,   OTTHUMT00000056757,   OTTHUMT00000056758,   UC004DSH.1,   UC004DSI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,465,876 - 53,466,397 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001281463.1(SMC1A):c.3526G>C (p.Glu1176Gln) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000541696] ChrX:53380646 [GRCh38]
ChrX:53407567 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.3597C>T (p.Thr1199=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000552905] ChrX:53380142 [GRCh38]
ChrX:53407063 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001281463.1(SMC1A):c.854A>G (p.His285Arg) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000556180] ChrX:53412188 [GRCh38]
ChrX:53439138 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.2807del (p.Gln936fs) deletion not provided [RCV000522038] ChrX:53394878 [GRCh38]
ChrX:53421798 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.2703dup (p.Ser902fs) duplication not provided [RCV000520361] ChrX:53396319..53396320 [GRCh38]
ChrX:53423239..53423240 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.2285T>C (p.Ile762Thr) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000022820]|Inborn genetic diseases [RCV000623393]|not provided [RCV000441375] ChrX:53403635 [GRCh38]
ChrX:53430567 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
SMC1A, 8.152-KB DEL deletion Congenital muscular hypertrophy-cerebral syndrome [RCV000022821] ChrX:Xp11.22-p11.21 pathogenic
NM_001281463.1(SMC1A):c.2496+1G>A single nucleotide variant not provided [RCV000656283] ChrX:53399588 [GRCh38]
ChrX:53426510 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.-150C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000639420] ChrX:53422538 [GRCh38]
ChrX:53449487 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001281463.1(SMC1A):c.793_795del (p.Lys265del) deletion Congenital muscular hypertrophy-cerebral syndrome [RCV000639415] ChrX:53412247..53412249 [GRCh38]
ChrX:53439197..53439199 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.2493_2495del (p.Asp831_Gln832delinsGlu) deletion Congenital muscular hypertrophy-cerebral syndrome [RCV000012438] ChrX:53399656..53399658 [GRCh38]
ChrX:53426578..53426580 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.1412A>C (p.Glu471Ala) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000012439] ChrX:53409129 [GRCh38]
ChrX:53436060 [GRCh37]
ChrX:Xp11.22
pathogenic
SMC1A, 15-BP DEL, NT173 deletion Congenital muscular hypertrophy-cerebral syndrome [RCV000012440] ChrX:Xp11.22-p11.21 pathogenic
NM_001281463.1(SMC1A):c.1421G>A (p.Arg474His) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000012441] ChrX:53409120 [GRCh38]
ChrX:53436051 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.23-11.22(chrX:50086006-54030240)x1 copy number loss See cases [RCV000051663] ChrX:50086006..54030240 [GRCh38]
ChrX:49850663..53957191 [GRCh37]
ChrX:49737403..54073398 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.22(chrX:53375808-53415949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051664]|See cases [RCV000051664] ChrX:53375808..53415949 [GRCh38]
ChrX:53402729..53442899 [GRCh37]
ChrX:53419454..53459624 [NCBI36]
ChrX:Xp11.22
pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22(chrX:53403791-54030240)x2 copy number gain See cases [RCV000052413] ChrX:53403791..54030240 [GRCh38]
ChrX:53430723..53957191 [GRCh37]
ChrX:53447448..54073398 [NCBI36]
ChrX:Xp11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22(chrX:50916108-53902080)x2 copy number gain See cases [RCV000052391] ChrX:50916108..53902080 [GRCh38]
ChrX:50659108..53928500 [GRCh37]
ChrX:50675848..53945225 [NCBI36]
ChrX:Xp11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.22(chrX:53374742-53543761)x3 copy number gain See cases [RCV000054186] ChrX:53374742..53543761 [GRCh38]
ChrX:53401663..53570722 [GRCh37]
ChrX:53418388..53587447 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_001281463.1(SMC1A):c.-118G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000660365] ChrX:53422506 [GRCh38]
ChrX:53449455 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.-231C>T single nucleotide variant De Lange syndrome [RCV000260444]|not specified [RCV000081383] ChrX:53422619 [GRCh38]
ChrX:53449568 [GRCh37]
ChrX:Xp11.22
benign
NM_001281463.1(SMC1A):c.2131-5T>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000535243]|De Lange syndrome [RCV000368215]|History of neurodevelopmental disorder [RCV000715398]|none provided [RCV001282763]|not specified [RCV000081384] ChrX:53403898 [GRCh38]
ChrX:53430830 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001281463.1(SMC1A):c.3525C>T (p.Ala1175=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000639419]|not specified [RCV000081385] ChrX:53380647 [GRCh38]
ChrX:53407568 [GRCh37]
ChrX:Xp11.22
benign|likely benign|uncertain significance
NM_001281463.1(SMC1A):c.346-10C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000531305]|not specified [RCV000081386] ChrX:53413445 [GRCh38]
ChrX:53440395 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001031745.4(RIBC1):c.86G>A (p.Arg29Gln) single nucleotide variant Malignant melanoma [RCV000073221] ChrX:53426362 [GRCh38]
ChrX:53453310 [GRCh37]
ChrX:53470035 [NCBI36]
ChrX:Xp11.22
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001281463.1(SMC1A):c.3130C>T (p.Arg1044Cys) single nucleotide variant Inborn genetic diseases [RCV000190720] ChrX:53382595 [GRCh38]
ChrX:53409516 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.-213C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000760215]|not provided [RCV000173402] ChrX:53422601 [GRCh38]
ChrX:53449550 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001281463.1(SMC1A):c.*14C>T single nucleotide variant De Lange syndrome [RCV000362555]|History of neurodevelopmental disorder [RCV000719960]|not specified [RCV000147547] ChrX:53380089 [GRCh38]
ChrX:53407010 [GRCh37]
ChrX:Xp11.22
benign|likely benign|uncertain significance
NM_001281463.1(SMC1A):c.1127G>A (p.Arg376Gln) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147548] ChrX:53411822 [GRCh38]
ChrX:53438772 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.1188+11G>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147549] ChrX:53411750 [GRCh38]
ChrX:53438700 [GRCh37]
ChrX:Xp11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001281463.1(SMC1A):c.1201C>A (p.Gln401Lys) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147550] ChrX:53409491 [GRCh38]
ChrX:53436422 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.1391A>G (p.Asp464Gly) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147551] ChrX:53409150 [GRCh38]
ChrX:53436081 [GRCh37]
ChrX:Xp11.22
likely pathogenic|conflicting interpretations of pathogenicity
NM_001281463.1(SMC1A):c.1479+4A>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147552]|History of neurodevelopmental disorder [RCV000720083]|not specified [RCV000356126] ChrX:53409058 [GRCh38]
ChrX:53435989 [GRCh37]
ChrX:Xp11.22
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001281463.1(SMC1A):c.1632G>A (p.Glu544=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000639411]|History of neurodevelopmental disorder [RCV000718839]|not specified [RCV000147553] ChrX:53405804 [GRCh38]
ChrX:53432736 [GRCh37]
ChrX:Xp11.22
benign
NM_001281463.1(SMC1A):c.1688T>C (p.Leu563Pro) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147554] ChrX:53405650 [GRCh38]
ChrX:53432582 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.1811G>A (p.Arg604His) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147555] ChrX:53405527 [GRCh38]
ChrX:53432459 [GRCh37]
ChrX:Xp11.22
likely pathogenic|conflicting interpretations of pathogenicity
NM_001281463.1(SMC1A):c.2012G>A (p.Arg671Gln) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147556] ChrX:53405130 [GRCh38]
ChrX:53432062 [GRCh37]
ChrX:Xp11.22
likely pathogenic|conflicting interpretations of pathogenicity
NM_001281463.1(SMC1A):c.2065C>T (p.Arg689Trp) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147557] ChrX:53405077 [GRCh38]
ChrX:53432009 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.2261T>A (p.Val754Glu) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147558] ChrX:53403659 [GRCh38]
ChrX:53430591 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.2284A>G (p.Ile762Val) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147559] ChrX:53403636 [GRCh38]
ChrX:53430568 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.2302C>T (p.Arg768Trp) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147560]|Inborn genetic diseases [RCV001265874]|Microcephaly [RCV001252688] ChrX:53403618 [GRCh38]
ChrX:53430550 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_001281463.1(SMC1A):c.2390T>G (p.Ile797Ser) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001344914]|not specified [RCV000147561] ChrX:53399695 [GRCh38]
ChrX:53426617 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_001281463.1(SMC1A):c.219C>G (p.Ala73=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147562]|not provided [RCV000955143] ChrX:53414994 [GRCh38]
ChrX:53441943 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_001281463.1(SMC1A):c.3004A>T (p.Asn1002Tyr) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147563] ChrX:53383157 [GRCh38]
ChrX:53410078 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.3080G>A (p.Arg1027Gln) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147564]|not provided [RCV000255003] ChrX:53382645 [GRCh38]
ChrX:53409566 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001281463.1(SMC1A):c.3186C>T (p.Ile1062=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147565] ChrX:53382539 [GRCh38]
ChrX:53409460 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.3188A>G (p.Tyr1063Cys) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147566] ChrX:53382537 [GRCh38]
ChrX:53409458 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001281463.1(SMC1A):c.3384C>T (p.Ala1128=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000639418]|History of neurodevelopmental disorder [RCV000717906]|not specified [RCV000147567] ChrX:53381075 [GRCh38]
ChrX:53407996 [GRCh37]
ChrX:Xp11.22
benign|likely benign|conflicting interpretations of pathogenicity
NM_001281463.1(SMC1A):c.3491T>C (p.Val1164Ala) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147568] ChrX:53380681 [GRCh38]
ChrX:53407602 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.355G>A (p.Glu119Lys) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147569] ChrX:53413426 [GRCh38]
ChrX:53440376 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.481C>T (p.Gln161Ter) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147570] ChrX:53413300 [GRCh38]
ChrX:53440250 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.520C>T (p.Arg174Cys) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147571] ChrX:53413261 [GRCh38]
ChrX:53440211 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001281463.1(SMC1A):c.550-2A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147572] ChrX:53413140 [GRCh38]
ChrX:53440090 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.550-6G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000872759]|not specified [RCV000147573] ChrX:53413144 [GRCh38]
ChrX:53440094 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001281463.1(SMC1A):c.789-15C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000147574] ChrX:53412268 [GRCh38]
ChrX:53439218 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs) deletion Congenital muscular hypertrophy-cerebral syndrome [RCV000202429]|Developmental and epileptic encephalopathy, 85, with or without midline brain defects [RCV001072124]|not provided [RCV000394437] ChrX:53396233..53396236 [GRCh38]
ChrX:53423153..53423156 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs) duplication Congenital muscular hypertrophy-cerebral syndrome [RCV000202430]|Developmental and epileptic encephalopathy, 85, with or without midline brain defects [RCV001072125] ChrX:53380685..53380686 [GRCh38]
ChrX:53407606..53407607 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp11.22(chrX:53403791-53795603)x2 copy number gain See cases [RCV000136996] ChrX:53403791..53795603 [GRCh38]
ChrX:53430723..53822101 [GRCh37]
ChrX:53447448..53838826 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp11.22(chrX:52975325-53610511)x3 copy number gain See cases [RCV000138363] ChrX:52975325..53610511 [GRCh38]
ChrX:53004505..53637472 [GRCh37]
ChrX:53021230..53654197 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22(chrX:53339720-53764162)x1 copy number loss See cases [RCV000141717] ChrX:53339720..53764162 [GRCh38]
ChrX:53368926..53790660 [GRCh37]
ChrX:53385651..53807385 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xp11.22(chrX:53397800-53403846)x1 copy number loss See cases [RCV000142514] ChrX:53397800..53403846 [GRCh38]
ChrX:53424720..53430778 [GRCh37]
ChrX:53441445..53447503 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp11.22(chrX:53374635-53878183)x3 copy number gain See cases [RCV000142505] ChrX:53374635..53878183 [GRCh38]
ChrX:53401556..53904610 [GRCh37]
ChrX:53418281..53921335 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1 copy number loss See cases [RCV000142036] ChrX:51654792..58469500 [GRCh38]
ChrX:51397726..58495933 [GRCh37]
ChrX:51414466..58512658 [NCBI36]
ChrX:Xp11.22-11.1
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2
pathogenic
GRCh38/hg38 Xp11.22(chrX:53375808-53387455)x4 copy number gain See cases [RCV000142567] ChrX:53375808..53387455 [GRCh38]
ChrX:53402729..53414375 [GRCh37]
ChrX:53419454..53431100 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp11.22(chrX:53375808-53387455)x3 copy number gain See cases [RCV000142568] ChrX:53375808..53387455 [GRCh38]
ChrX:53402729..53414375 [GRCh37]
ChrX:53419454..53431100 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001281463.1(SMC1A):c.633G>A (p.Val211=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000545929]|History of neurodevelopmental disorder [RCV000715607]|not specified [RCV000153977] ChrX:53413055 [GRCh38]
ChrX:53440005 [GRCh37]
ChrX:Xp11.22
benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001281463.1(SMC1A):c.730_732AAG[2] (p.Lys246del) microsatellite Congenital muscular hypertrophy-cerebral syndrome [RCV000157049]|Global developmental delay [RCV000626897] ChrX:53412950..53412952 [GRCh38]
ChrX:53439900..53439902 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.2908-2A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000157050] ChrX:53383255 [GRCh38]
ChrX:53410176 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.55C>T (p.Leu19Phe) single nucleotide variant Wiedemann-Steiner syndrome [RCV000157052] ChrX:53415158 [GRCh38]
ChrX:53442107 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.1768G>A (p.Ala590Thr) single nucleotide variant not provided [RCV000153975] ChrX:53405570 [GRCh38]
ChrX:53432502 [GRCh37]
ChrX:Xp11.22
likely pathogenic|uncertain significance
NM_001281463.1(SMC1A):c.795G>A (p.Lys265=) single nucleotide variant not provided [RCV000153976] ChrX:53412247 [GRCh38]
ChrX:53439197 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.1257C>T (p.Tyr419=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000535594]|History of neurodevelopmental disorder [RCV000717385]|not specified [RCV000180295] ChrX:53409435 [GRCh38]
ChrX:53436366 [GRCh37]
ChrX:Xp11.22
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001281463.1(SMC1A):c.1980_1982del (p.Glu662del) deletion Congenital muscular hypertrophy-cerebral syndrome [RCV000193116] ChrX:53405255..53405257 [GRCh38]
ChrX:53432187..53432189 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.2758C>T (p.Leu920=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001085865]|History of neurodevelopmental disorder [RCV000715324]|not provided [RCV000713378]|not specified [RCV000193146] ChrX:53396265 [GRCh38]
ChrX:53423185 [GRCh37]
ChrX:Xp11.22
benign|likely benign|conflicting interpretations of pathogenicity
NM_001281463.1(SMC1A):c.1070_1072AAG[2] (p.Glu359del) microsatellite Congenital muscular hypertrophy-cerebral syndrome [RCV000195085] ChrX:53411871..53411873 [GRCh38]
ChrX:53438821..53438823 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.2481del (p.Ile827fs) deletion Congenital muscular hypertrophy-cerebral syndrome [RCV000191130] ChrX:53399604 [GRCh38]
ChrX:53426526 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.3240C>G (p.Asn1080Lys) single nucleotide variant not specified [RCV000194177] ChrX:53382363 [GRCh38]
ChrX:53409284 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.2303G>A (p.Arg768Gln) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000194474] ChrX:53403617 [GRCh38]
ChrX:53430549 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.2722C>T (p.Leu908=) single nucleotide variant not provided [RCV000933613]|not specified [RCV000192495] ChrX:53396301 [GRCh38]
ChrX:53423221 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001281463.1(SMC1A):c.3512T>G (p.Phe1171Cys) single nucleotide variant Inborn genetic diseases [RCV000210626] ChrX:53380660 [GRCh38]
ChrX:53407581 [GRCh37]
ChrX:Xp11.22
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3 copy number gain See cases [RCV000240407] ChrX:53220822..58066465 [GRCh37]
ChrX:Xp11.22-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001281463.1(SMC1A):c.2907+45G>A single nucleotide variant not specified [RCV000247032] ChrX:53394733 [GRCh38]
ChrX:53421653 [GRCh37]
ChrX:Xp11.22
benign
NM_001281463.1(SMC1A):c.232+12T>C single nucleotide variant not specified [RCV000251990] ChrX:53414969 [GRCh38]
ChrX:53441918 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001281463.1(SMC1A):c.1032G>A (p.Thr344=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000639421]|not specified [RCV000517467] ChrX:53412010 [GRCh38]
ChrX:53438960 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001281463.1(SMC1A):c.*5352C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000302908] ChrX:53374751 [GRCh38]
ChrX:53401672 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*1961C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000271262] ChrX:53378142 [GRCh38]
ChrX:53405063 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*3421G>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000291567] ChrX:53376682 [GRCh38]
ChrX:53403603 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001281463.1(SMC1A):c.*2423G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000276889] ChrX:53377680 [GRCh38]
ChrX:53404601 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001281463.1(SMC1A):c.*5915T>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000296125] ChrX:53374188 [GRCh38]
ChrX:53401109 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*703G>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000278456] ChrX:53379400 [GRCh38]
ChrX:53406321 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_001281463.1(SMC1A):c.*2609A>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000298907] ChrX:53377494 [GRCh38]
ChrX:53404415 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_001281463.1(SMC1A):c.*41G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000307952] ChrX:53380062 [GRCh38]
ChrX:53406983 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_001281463.1(SMC1A):c.*5444G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000308965] ChrX:53374659 [GRCh38]
ChrX:53401580 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001281463.1(SMC1A):c.*2589A>G single nucleotide variant De Lange syndrome [RCV000356163] ChrX:53377514 [GRCh38]
ChrX:53404435 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001281463.1(SMC1A):c.*5692G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000343963] ChrX:53374411 [GRCh38]
ChrX:53401332 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*2490T>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000312235] ChrX:53377613 [GRCh38]
ChrX:53404534 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*2225G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000324908] ChrX:53377878 [GRCh38]
ChrX:53404799 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*3777C>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000345829] ChrX:53376326 [GRCh38]
ChrX:53403247 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*4087G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000275366] ChrX:53376016 [GRCh38]
ChrX:53402937 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*5380G>A single nucleotide variant De Lange syndrome [RCV000365955] ChrX:53374723 [GRCh38]
ChrX:53401644 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001281463.1(SMC1A):c.1107G>A (p.Gln369=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000891014]|History of neurodevelopmental disorder [RCV000720541] ChrX:53411842 [GRCh38]
ChrX:53438792 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001281463.1(SMC1A):c.*2435T>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000369305] ChrX:53377668 [GRCh38]
ChrX:53404589 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*96C>T single nucleotide variant De Lange syndrome [RCV000398576] ChrX:53380007 [GRCh38]
ChrX:53406928 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001281463.1(SMC1A):c.*1559G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000328546] ChrX:53378544 [GRCh38]
ChrX:53405465 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*1239T>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000284258] ChrX:53378864 [GRCh38]
ChrX:53405785 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001281463.1(SMC1A):c.*1240A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000376260] ChrX:53378863 [GRCh38]
ChrX:53405784 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*5481G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000401379] ChrX:53374622 [GRCh38]
ChrX:53401543 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001281463.1(SMC1A):c.*2973C>T single nucleotide variant De Lange syndrome [RCV000402248] ChrX:53377130 [GRCh38]
ChrX:53404051 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001281463.1(SMC1A):c.*817_*820ACAG[1] microsatellite De Lange syndrome [RCV000379940] ChrX:53379279..53379282 [GRCh38]
ChrX:53406200..53406203 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.1126C>T (p.Arg376Ter) single nucleotide variant not provided [RCV000342065] ChrX:53411823 [GRCh38]
ChrX:53438773 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.*4645T>C single nucleotide variant De Lange syndrome [RCV000354285] ChrX:53375458 [GRCh38]
ChrX:53402379 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001281463.1(SMC1A):c.*3807G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000288481] ChrX:53376296 [GRCh38]
ChrX:53403217 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*3671C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000384093] ChrX:53376432 [GRCh38]
ChrX:53403353 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*3851A>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000332914] ChrX:53376252 [GRCh38]
ChrX:53403173 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001281463.1(SMC1A):c.*4382A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000386222] ChrX:53375721 [GRCh38]
ChrX:53402642 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*3838G>A single nucleotide variant De Lange syndrome [RCV000389769] ChrX:53376265 [GRCh38]
ChrX:53403186 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001281463.1(SMC1A):c.*2050T>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000382092] ChrX:53378053 [GRCh38]
ChrX:53404974 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*665A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000335882] ChrX:53379438 [GRCh38]
ChrX:53406359 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*3305A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000340069] ChrX:53376798 [GRCh38]
ChrX:53403719 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*5197T>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000360036] ChrX:53374906 [GRCh38]
ChrX:53401827 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_001281463.1(SMC1A):c.*4952_*4953del deletion De Lange syndrome [RCV000297102] ChrX:53375150..53375151 [GRCh38]
ChrX:53402071..53402072 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001281463.1(SMC1A):c.*1028C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000341573] ChrX:53379075 [GRCh38]
ChrX:53405996 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*2856A>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000343474] ChrX:53377247 [GRCh38]
ChrX:53404168 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001281463.1(SMC1A):c.*626A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000399341] ChrX:53379477 [GRCh38]
ChrX:53406398 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*4581T>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000261703] ChrX:53375522 [GRCh38]
ChrX:53402443 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*2540C>G single nucleotide variant De Lange syndrome [RCV000263718] ChrX:53377563 [GRCh38]
ChrX:53404484 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001281463.1(SMC1A):c.*348C>T single nucleotide variant De Lange syndrome [RCV000347665] ChrX:53379755 [GRCh38]
ChrX:53406676 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*381A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000302165] ChrX:53379722 [GRCh38]
ChrX:53406643 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_001281463.1(SMC1A):c.*5355G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000407573] ChrX:53374748 [GRCh38]
ChrX:53401669 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*4443G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000319257] ChrX:53375660 [GRCh38]
ChrX:53402581 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.*5016T>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000267480] ChrX:53375087 [GRCh38]
ChrX:53402008 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001281463.1(SMC1A):c.*2948G>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000304927] ChrX:53377155 [GRCh38]
ChrX:53404076 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_001281463.1(SMC1A):c.*2663C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000407953] ChrX:53377440 [GRCh38]
ChrX:53404361 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001270858] ChrX:53382307 [GRCh38]
ChrX:53409228 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001281463.1(SMC1A):c.2381G>A (p.Arg794His) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000990832]|not provided [RCV000400812] ChrX:53399704 [GRCh38]
ChrX:53426626 [GRCh37]
ChrX:Xp11.22
likely pathogenic|uncertain significance
NM_001281463.1(SMC1A):c.1180G>A (p.Glu394Lys) single nucleotide variant not provided [RCV000309174] ChrX:53411769 [GRCh38]
ChrX:53438719 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.1213G>A (p.Glu405Lys) single nucleotide variant not provided [RCV000338593] ChrX:53409479 [GRCh38]
ChrX:53436410 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.1298T>C (p.Leu433Pro) single nucleotide variant not provided [RCV000376748] ChrX:53409243 [GRCh38]
ChrX:53436174 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.2320G>A (p.Asp774Asn) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001170013] ChrX:53403666 [GRCh38]
ChrX:53430598 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.1924del (p.Arg642fs) deletion Inborn genetic diseases [RCV000622892] ChrX:53405313 [GRCh38]
ChrX:53432245 [GRCh37]
ChrX:Xp11.22
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001169562] ChrX:53380704 [GRCh38]
ChrX:53407625 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.1429C>T (p.Arg477Ter) single nucleotide variant SMC1A-related cohesinopathy [RCV001270901]|not provided [RCV000578696] ChrX:53409112 [GRCh38]
ChrX:53436043 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_001281463.1(SMC1A):c.345+6C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001303311]|not provided [RCV000584892] ChrX:53414752 [GRCh38]
ChrX:53441701 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.3158A>G (p.Glu1053Gly) single nucleotide variant not provided [RCV000523612] ChrX:53382567 [GRCh38]
ChrX:53409488 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.3441+3G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000639416] ChrX:53381015 [GRCh38]
ChrX:53407936 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.521G>A (p.Arg174His) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000639414] ChrX:53413260 [GRCh38]
ChrX:53440210 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.1666-2A>G single nucleotide variant not provided [RCV000656318] ChrX:53405674 [GRCh38]
ChrX:53432606 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.3276C>A (p.Asn1092Lys) single nucleotide variant not provided [RCV000414541] ChrX:53382327 [GRCh38]
ChrX:53409248 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.221G>C (p.Arg74Pro) single nucleotide variant not provided [RCV000731943] ChrX:53414992 [GRCh38]
ChrX:53441941 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.1930T>C (p.Trp644Arg) single nucleotide variant Global developmental delay [RCV000415322] ChrX:53405307 [GRCh38]
ChrX:53432239 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.50C>G (p.Ser17Ter) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000415358] ChrX:53415163 [GRCh38]
ChrX:53442112 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.2380C>T (p.Arg794Cys) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000528271] ChrX:53399705 [GRCh38]
ChrX:53426627 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.2915A>G (p.Gln972Arg) single nucleotide variant Pectus excavatum [RCV000415185] ChrX:53383246 [GRCh38]
ChrX:53410167 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001281463.1(SMC1A):c.3112G>A (p.Glu1038Lys) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001066009]|not provided [RCV000427470] ChrX:53382613 [GRCh38]
ChrX:53409534 [GRCh37]
ChrX:Xp11.22
likely pathogenic|uncertain significance
NM_001281463.1(SMC1A):c.1438G>A (p.Glu480Lys) single nucleotide variant not provided [RCV000429287] ChrX:53409103 [GRCh38]
ChrX:53436034 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_001281463.1(SMC1A):c.556C>G (p.Arg186Gly) single nucleotide variant not provided [RCV000439297] ChrX:53413132 [GRCh38]
ChrX:53440082 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.3502A>G (p.Lys1168Glu) single nucleotide variant not provided [RCV000441064] ChrX:53380670 [GRCh38]
ChrX:53407591 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.3307A>G (p.Met1103Val) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000416533] ChrX:53382296 [GRCh38]
ChrX:53409217 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.1322_1323insC (p.Glu442fs) insertion Congenital muscular hypertrophy-cerebral syndrome [RCV000417105] ChrX:53409218..53409219 [GRCh38]
ChrX:53436149..53436150 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001281463.1(SMC1A):c.549+5G>A single nucleotide variant not provided [RCV000481146] ChrX:53413227 [GRCh38]
ChrX:53440177 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.245A>G (p.Glu82Gly) single nucleotide variant not provided [RCV000498677] ChrX:53414858 [GRCh38]
ChrX:53441807 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.58A>G (p.Met20Val) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000500991] ChrX:53415155 [GRCh38]
ChrX:53442104 [GRCh37]
ChrX:Xp11.22
likely pathogenic|conflicting interpretations of pathogenicity
NM_001281463.1(SMC1A):c.414T>A (p.Arg138=) single nucleotide variant not specified [RCV000501025] ChrX:53413367 [GRCh38]
ChrX:53440317 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
NM_001281463.1(SMC1A):c.2125C>T (p.Leu709=) single nucleotide variant not specified [RCV000504095] ChrX:53405017 [GRCh38]
ChrX:53431949 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001281463.1(SMC1A):c.1124A>G (p.Asn375Ser) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000704265]|not specified [RCV000499405] ChrX:53411825 [GRCh38]
ChrX:53438775 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.2206C>T (p.Arg736Ter) single nucleotide variant not provided [RCV000497394] ChrX:53403818 [GRCh38]
ChrX:53430750 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001281463.1(SMC1A):c.3552+10G>A single nucleotide variant not specified [RCV000502692] ChrX:53380610 [GRCh38]
ChrX:53407531 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_001281463.1(SMC1A):c.3552+7C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000816440]|not specified [RCV000503161] ChrX:53380613 [GRCh38]
ChrX:53407534 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001281463.1(SMC1A):c.3224T>A (p.Phe1075Tyr) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000496004] ChrX:53382379 [GRCh38]
ChrX:53409300 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.2263T>C (p.Phe755Leu) single nucleotide variant Inborn genetic diseases [RCV000624124] ChrX:53403657 [GRCh38]
ChrX:53430589 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001281463.1(SMC1A):c.2884G>A (p.Gly962Ser) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000538565]|History of neurodevelopmental disorder [RCV000717223] ChrX:53394801 [GRCh38]
ChrX:53421721 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_001281463.1(SMC1A):c.3037C>T (p.Arg1013Ter) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000639410] ChrX:53383124 [GRCh38]
ChrX:53410045 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_001281463.1(SMC1A):c.3431A>G (p.Asn1144Ser) single nucleotide variant Inborn genetic diseases [RCV000624551] ChrX:53381028 [GRCh38]
ChrX:53407949 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.1810C>T (p.Arg604Cys) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000639412] ChrX:53405528 [GRCh38]
ChrX:53432460 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.2990_3016delinsTGCAG (p.Arg997fs) indel Congenital muscular hypertrophy-cerebral syndrome [RCV000639413] ChrX:53383145..53383171 [GRCh38]
ChrX:53410066..53410092 [GRCh37]
ChrX:Xp11.22
likely pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_001281463.1(SMC1A):c.3402T>G (p.Asp1134Glu) single nucleotide variant not specified [RCV000626093] ChrX:53381057 [GRCh38]
ChrX:53407978 [GRCh37]
ChrX:Xp11.22
likely pathogenic|uncertain significance
NC_000023.10:g.(?_53263381)_(53449569_?)dup duplication Mental retardation, X-linked 1 [RCV000647981] ChrX:53263381..53449569 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.3131G>A (p.Arg1044His) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000707530]|Inborn genetic diseases [RCV000623215] ChrX:53382594 [GRCh38]
ChrX:53409515 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001281463.1(SMC1A):c.1972C>T (p.Arg658Cys) single nucleotide variant Inborn genetic diseases [RCV000623317] ChrX:53405265 [GRCh38]
ChrX:53432197 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.1543del (p.Val515fs) deletion Inborn genetic diseases [RCV000624275] ChrX:53405893 [GRCh38]
ChrX:53432825 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.1409A>G (p.Gln470Arg) single nucleotide variant not provided [RCV000659162] ChrX:53409132 [GRCh38]
ChrX:53436063 [GRCh37]
ChrX:Xp11.22
likely pathogenic
GRCh37/hg19 Xp11.22(chrX:53094819-53414375)x1 copy number loss not provided [RCV000659190] ChrX:53094819..53414375 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.232G>C (p.Gly78Arg) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000679806] ChrX:53414981 [GRCh38]
ChrX:53441930 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.3572G>A (p.Ser1191Asn) single nucleotide variant History of neurodevelopmental disorder [RCV000717012] ChrX:53380167 [GRCh38]
ChrX:53407088 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.62A>T (p.Asp21Val) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000680259] ChrX:53415151 [GRCh38]
ChrX:53442100 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.589del (p.Ala197fs) deletion Congenital muscular hypertrophy-cerebral syndrome [RCV000680260] ChrX:53413099 [GRCh38]
ChrX:53440049 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.2328dup (p.Arg777fs) duplication Congenital muscular hypertrophy-cerebral syndrome [RCV000680261] ChrX:53403591..53403592 [GRCh38]
ChrX:53430523..53430524 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.1048-2A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000680263] ChrX:53411903 [GRCh38]
ChrX:53438853 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.74T>G (p.Phe25Cys) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000679805] ChrX:53415139 [GRCh38]
ChrX:53442088 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.44G>T (p.Gly15Val) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000680258] ChrX:53415169 [GRCh38]
ChrX:53442118 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.2354G>A (p.Arg785His) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000680262]|not provided [RCV001268607] ChrX:53403566 [GRCh38]
ChrX:53430498 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NC_000023.10:g.(?_53349595)_(53410194_?)dup duplication Congenital muscular hypertrophy-cerebral syndrome [RCV000707763] ChrX:53349595..53410194 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.22(chrX:53372728-54106257)x2 copy number gain not provided [RCV000684334] ChrX:53372728..54106257 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.789-2A>G single nucleotide variant not provided [RCV000681860] ChrX:53412255 [GRCh38]
ChrX:53439205 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.161A>G (p.Asn54Ser) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000687190] ChrX:53415052 [GRCh38]
ChrX:53442001 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.2911G>T (p.Ala971Ser) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000690033] ChrX:53383250 [GRCh38]
ChrX:53410171 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.2642A>G (p.Lys881Arg) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000685225] ChrX:53396472 [GRCh38]
ChrX:53423392 [GRCh37]
ChrX:Xp11.22
uncertain significance
NC_000023.10:g.(?_53349615)_(53410174_?)dup duplication Congenital muscular hypertrophy-cerebral syndrome [RCV000708248] ChrX:53349615..53410174 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.2354+5G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000689724] ChrX:53403561 [GRCh38]
ChrX:53430493 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.2726A>G (p.Gln909Arg) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000707099] ChrX:53396297 [GRCh38]
ChrX:53423217 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.2672C>T (p.Thr891Ile) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000693326] ChrX:53396351 [GRCh38]
ChrX:53423271 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.3120C>G (p.Ile1040Met) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000688735] ChrX:53382605 [GRCh38]
ChrX:53409526 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.3395T>A (p.Val1132Asp) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000703292] ChrX:53381064 [GRCh38]
ChrX:53407985 [GRCh37]
ChrX:Xp11.22
likely pathogenic|uncertain significance
NM_001281463.1(SMC1A):c.3586_3597del (p.Phe1196_Thr1199del) deletion Congenital muscular hypertrophy-cerebral syndrome [RCV000698600] ChrX:53380142..53380153 [GRCh38]
ChrX:53407063..53407074 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.195_206del (p.Glu65_Glu68del) deletion Congenital muscular hypertrophy-cerebral syndrome [RCV000705752] ChrX:53415007..53415018 [GRCh38]
ChrX:53441956..53441967 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.1188+5G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000686797] ChrX:53411756 [GRCh38]
ChrX:53438706 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.3085C>T (p.Arg1029Ter) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000692280] ChrX:53382640 [GRCh38]
ChrX:53409561 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001281463.1(SMC1A):c.3626A>G (p.Asn1209Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000715878] ChrX:53380113 [GRCh38]
ChrX:53407034 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.1188+4G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001301464]|History of neurodevelopmental disorder [RCV000717728] ChrX:53411757 [GRCh38]
ChrX:53438707 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.347G>A (p.Gly116Asp) single nucleotide variant History of neurodevelopmental disorder [RCV000721092] ChrX:53413434 [GRCh38]
ChrX:53440384 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.1692G>T (p.Arg564=) single nucleotide variant History of neurodevelopmental disorder [RCV000719989] ChrX:53405646 [GRCh38]
ChrX:53432578 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001281463.1(SMC1A):c.768G>A (p.Gln256=) single nucleotide variant History of neurodevelopmental disorder [RCV000719623] ChrX:53412920 [GRCh38]
ChrX:53439870 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001281463.1(SMC1A):c.1482C>T (p.Tyr494=) single nucleotide variant History of neurodevelopmental disorder [RCV000720138] ChrX:53405954 [GRCh38]
ChrX:53432886 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001281463.1(SMC1A):c.2580G>A (p.Ser860=) single nucleotide variant History of neurodevelopmental disorder [RCV000720658] ChrX:53396534 [GRCh38]
ChrX:53423454 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_006306.4(SMC1A):c.3286-4C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000976783] ChrX:53382387 [GRCh38]
ChrX:53409308 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.3438-7C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000938988]|not specified [RCV001288777] ChrX:53381094 [GRCh38]
ChrX:53408015 [GRCh37]
ChrX:Xp11.22
benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001043421] ChrX:53409121 [GRCh38]
ChrX:53436052 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_006306.4(SMC1A):c.3022C>T (p.Gln1008Ter) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000990830] ChrX:53383205 [GRCh38]
ChrX:53410126 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.2814dup (p.Lys939Ter) duplication Congenital muscular hypertrophy-cerebral syndrome [RCV000990831] ChrX:53396274..53396275 [GRCh38]
ChrX:53423194..53423195 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.615+2T>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000990834] ChrX:53413230 [GRCh38]
ChrX:53440180 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.1911+1G>T single nucleotide variant Developmental and epileptic encephalopathy, 85, with or without midline brain defects [RCV001072123] ChrX:53405492 [GRCh38]
ChrX:53432424 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.2683C>G (p.Arg895Gly) single nucleotide variant Developmental and epileptic encephalopathy, 85, with or without midline brain defects [RCV001072130] ChrX:53396497 [GRCh38]
ChrX:53423417 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.*5946C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001166985] ChrX:53374157 [GRCh38]
ChrX:53401078 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*5722A>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001166988] ChrX:53374381 [GRCh38]
ChrX:53401302 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.2863-8C>T single nucleotide variant not provided [RCV000999453] ChrX:53394896 [GRCh38]
ChrX:53421816 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.3683C>T (p.Pro1228Leu) single nucleotide variant not provided [RCV000945233] ChrX:53380122 [GRCh38]
ChrX:53407043 [GRCh37]
ChrX:Xp11.22
benign
NM_006306.4(SMC1A):c.1337+9C>T single nucleotide variant not provided [RCV000945262] ChrX:53409412 [GRCh38]
ChrX:53436343 [GRCh37]
ChrX:Xp11.22
benign
NM_006306.4(SMC1A):c.2688G>A (p.Lys896=) single nucleotide variant not provided [RCV000927589] ChrX:53396492 [GRCh38]
ChrX:53423412 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.2949C>T (p.Tyr983=) single nucleotide variant not provided [RCV000926000] ChrX:53394802 [GRCh38]
ChrX:53421722 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001281463.1(SMC1A):c.1969G>T (p.Glu657Ter) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000757943] ChrX:53405268 [GRCh38]
ChrX:53432200 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_006306.4(SMC1A):c.2059-9T>C single nucleotide variant not provided [RCV000942509] ChrX:53405158 [GRCh38]
ChrX:53432090 [GRCh37]
ChrX:Xp11.22
likely benign
NC_000023.10:g.(?_53448825)_(53449569_?)del deletion Congenital muscular hypertrophy-cerebral syndrome [RCV001033160] ChrX:53448825..53449569 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.392del (p.Arg131fs) deletion Congenital muscular hypertrophy-cerebral syndrome [RCV001062141] ChrX:53414777 [GRCh38]
ChrX:53441726 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.2862+4A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001061962] ChrX:53396223 [GRCh38]
ChrX:53423143 [GRCh37]
ChrX:Xp11.22
uncertain significance
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_006306.4(SMC1A):c.392G>A (p.Arg131His) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001059173] ChrX:53414777 [GRCh38]
ChrX:53441726 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.1681A>C (p.Lys561Gln) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001048196] ChrX:53405821 [GRCh38]
ChrX:53432753 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.2095C>T (p.Arg699Cys) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001051163] ChrX:53405113 [GRCh38]
ChrX:53432045 [GRCh37]
ChrX:Xp11.22
uncertain significance
NC_000023.10:g.(?_53407004)_(53449569_?)dup duplication Congenital muscular hypertrophy-cerebral syndrome [RCV001032583] ChrX:53407004..53449569 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.3497A>C (p.Asn1166Thr) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000995878] ChrX:53381028 [GRCh38]
ChrX:53407949 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.1781_1784TGAT[1] (p.Ile595fs) microsatellite Congenital muscular hypertrophy-cerebral syndrome [RCV000995879] ChrX:53405616..53405619 [GRCh38]
ChrX:53432548..53432551 [GRCh37]
ChrX:Xp11.22
pathogenic
NC_000023.10:g.(?_53276131)_(53449569_?)dup duplication Congenital muscular hypertrophy-cerebral syndrome [RCV001032472] ChrX:53276131..53449569 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.3249dup (p.Ile1084fs) duplication Congenital muscular hypertrophy-cerebral syndrome [RCV001060696] ChrX:53382541..53382542 [GRCh38]
ChrX:53409462..53409463 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.579G>A (p.Ala193=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000925437] ChrX:53413268 [GRCh38]
ChrX:53440218 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001281463.1(SMC1A):c.428C>T (p.Ala143Val) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000813864] ChrX:53413353 [GRCh38]
ChrX:53440303 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.1806T>G (p.Asp602Glu) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000819704]|not provided [RCV000999455] ChrX:53405532 [GRCh38]
ChrX:53432464 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.3324C>T (p.Gly1108=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000821652]|not provided [RCV000999450] ChrX:53382279 [GRCh38]
ChrX:53409200 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_006306.4(SMC1A):c.52_53del (p.Arg18fs) deletion not provided [RCV000999457] ChrX:53422548..53422549 [GRCh38]
ChrX:53449497..53449498 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_006306.4(SMC1A):c.3437+10A>T single nucleotide variant not provided [RCV000976425] ChrX:53382222 [GRCh38]
ChrX:53409143 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.1299del (p.Lys433fs) deletion Congenital muscular hypertrophy-cerebral syndrome [RCV000799059] ChrX:53409459 [GRCh38]
ChrX:53436390 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.616-7del deletion not provided [RCV000937675] ChrX:53413145 [GRCh38]
ChrX:53440095 [GRCh37]
ChrX:Xp11.22
likely benign
NC_000023.10:g.(?_53430478)_(53432101_?)del deletion Congenital muscular hypertrophy-cerebral syndrome [RCV000811350] ChrX:53430478..53432101 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001281463.1(SMC1A):c.3545A>T (p.Tyr1182Phe) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000823634] ChrX:53380627 [GRCh38]
ChrX:53407548 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.3169A>G (p.Thr1057Ala) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000811425] ChrX:53382556 [GRCh38]
ChrX:53409477 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*2086T>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001165508] ChrX:53378017 [GRCh38]
ChrX:53404938 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*5506A>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001166989] ChrX:53374597 [GRCh38]
ChrX:53401518 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.2061G>A (p.Glu687=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001165577] ChrX:53405147 [GRCh38]
ChrX:53432079 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*675A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001167688] ChrX:53379428 [GRCh38]
ChrX:53406349 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*578C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001167689] ChrX:53379525 [GRCh38]
ChrX:53406446 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*4998T>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001169467] ChrX:53375105 [GRCh38]
ChrX:53402026 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.-7G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001167172] ChrX:53422607 [GRCh38]
ChrX:53449556 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.-275G>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001167173] ChrX:53422663 [GRCh38]
ChrX:53449612 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.2872dup (p.Gln958fs) duplication Congenital muscular hypertrophy-cerebral syndrome [RCV000812147] ChrX:53394878..53394879 [GRCh38]
ChrX:53421798..53421799 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.2197G>T (p.Glu733Ter) single nucleotide variant Developmental and epileptic encephalopathy, 85, with or without midline brain defects [RCV001072127] ChrX:53403893 [GRCh38]
ChrX:53430825 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.*2389G>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001165507] ChrX:53377714 [GRCh38]
ChrX:53404635 [GRCh37]
ChrX:Xp11.22
benign
NM_006306.4(SMC1A):c.*1967C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001165509] ChrX:53378136 [GRCh38]
ChrX:53405057 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.3131-13T>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001165575] ChrX:53382673 [GRCh38]
ChrX:53409594 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*5451A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001168696] ChrX:53374652 [GRCh38]
ChrX:53401573 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.2320G>T (p.Asp774Tyr) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001045982] ChrX:53403666 [GRCh38]
ChrX:53430598 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_006306.4(SMC1A):c.2643G>A (p.Lys881=) single nucleotide variant not provided [RCV000999454] ChrX:53396537 [GRCh38]
ChrX:53423457 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.793_795del (p.Glu265del) deletion not provided [RCV000999456] ChrX:53412959..53412961 [GRCh38]
ChrX:53439909..53439911 [GRCh37]
ChrX:Xp11.22
conflicting interpretations of pathogenicity|uncertain significance
NM_006306.4(SMC1A):c.*3025C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001168755] ChrX:53377078 [GRCh38]
ChrX:53403999 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*5855G>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001166986] ChrX:53374248 [GRCh38]
ChrX:53401169 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*5443C>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001168697] ChrX:53374660 [GRCh38]
ChrX:53401581 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*3392T>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001168753] ChrX:53376711 [GRCh38]
ChrX:53403632 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*1934T>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001167108] ChrX:53378169 [GRCh38]
ChrX:53405090 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.1964G>A (p.Gly655Glu) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000990833] ChrX:53405339 [GRCh38]
ChrX:53432271 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001281463.1(SMC1A):c.2643-4T>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000822010] ChrX:53396384 [GRCh38]
ChrX:53423304 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001281463.1(SMC1A):c.1781C>T (p.Ala594Val) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000822047] ChrX:53405557 [GRCh38]
ChrX:53432489 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.2583G>A (p.Lys861=) single nucleotide variant not provided [RCV000942013] ChrX:53396597 [GRCh38]
ChrX:53423517 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.3615T>A (p.Pro1205=) single nucleotide variant not provided [RCV000982159] ChrX:53380623 [GRCh38]
ChrX:53407544 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe) single nucleotide variant not provided [RCV000976394] ChrX:53414797 [GRCh38]
ChrX:53441746 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001281463.1(SMC1A):c.2248-2A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000791958] ChrX:53403674 [GRCh38]
ChrX:53430606 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_006306.4(SMC1A):c.*5051G>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001169466] ChrX:53375052 [GRCh38]
ChrX:53401973 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*4367T>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001166523] ChrX:53375736 [GRCh38]
ChrX:53402657 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*3596C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001167040] ChrX:53376507 [GRCh38]
ChrX:53403428 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.583G>T (p.Glu195Ter) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000990835] ChrX:53413264 [GRCh38]
ChrX:53440214 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_006306.4(SMC1A):c.756C>T (p.Asp252=) single nucleotide variant not provided [RCV000936156] ChrX:53412998 [GRCh38]
ChrX:53439948 [GRCh37]
ChrX:Xp11.22
benign
NM_006306.4(SMC1A):c.3371C>T (p.Pro1124Leu) single nucleotide variant not provided [RCV000999451] ChrX:53382298 [GRCh38]
ChrX:53409219 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_006306.4(SMC1A):c.2691A>G (p.Lys897=) single nucleotide variant not provided [RCV000936916] ChrX:53396489 [GRCh38]
ChrX:53423409 [GRCh37]
ChrX:Xp11.22
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_006306.4(SMC1A):c.2314G>T (p.Val772Leu) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001210741] ChrX:53403672 [GRCh38]
ChrX:53430604 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.1436A>C (p.Gln479Pro) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001202476] ChrX:53409171 [GRCh38]
ChrX:53436102 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.3115C>T (p.Gln1039Ter) single nucleotide variant Developmental and epileptic encephalopathy, 85, with or without midline brain defects [RCV001072129] ChrX:53383112 [GRCh38]
ChrX:53410033 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.2645C>T (p.Ser882Leu) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001227326] ChrX:53396535 [GRCh38]
ChrX:53423455 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.854+6_854+7del microsatellite Congenital muscular hypertrophy-cerebral syndrome [RCV001241732] ChrX:53412893..53412894 [GRCh38]
ChrX:53439843..53439844 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.1682A>G (p.Lys561Arg) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001221735] ChrX:53405820 [GRCh38]
ChrX:53432752 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.1342_1348del (p.Ser448fs) deletion Developmental and epileptic encephalopathy, 85, with or without midline brain defects [RCV001250669] ChrX:53409259..53409265 [GRCh38]
ChrX:53436190..53436196 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_006306.4(SMC1A):c.1150A>G (p.Lys384Glu) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001195912] ChrX:53411865 [GRCh38]
ChrX:53438815 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.2729AGG[1] (p.Glu911del) microsatellite Congenital muscular hypertrophy-cerebral syndrome [RCV001219346] ChrX:53396355..53396357 [GRCh38]
ChrX:53423275..53423277 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_006306.4(SMC1A):c.3135T>C (p.Phe1045=) single nucleotide variant not provided [RCV000999452] ChrX:53382656 [GRCh38]
ChrX:53409577 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp11.22(chrX:53384424-54103704)x2 copy number gain not provided [RCV000846635] ChrX:53384424..54103704 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.*3087G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001168754] ChrX:53377016 [GRCh38]
ChrX:53403937 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.*1914A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001167109] ChrX:53378189 [GRCh38]
ChrX:53405110 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.2039G>A (p.Arg680His) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000930925] ChrX:53405264 [GRCh38]
ChrX:53432196 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.3666G>A (p.Lys1222=) single nucleotide variant not provided [RCV000891856] ChrX:53380139 [GRCh38]
ChrX:53407060 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.1101G>A (p.Leu367=) single nucleotide variant not provided [RCV000952265] ChrX:53412007 [GRCh38]
ChrX:53438957 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.2886A>C (p.Ser962=) single nucleotide variant not provided [RCV000907213] ChrX:53394865 [GRCh38]
ChrX:53421785 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.846G>A (p.Lys282=) single nucleotide variant not provided [RCV000975528] ChrX:53412908 [GRCh38]
ChrX:53439858 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.298+9G>A single nucleotide variant not provided [RCV000936907] ChrX:53414972 [GRCh38]
ChrX:53441921 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.594A>G (p.Glu198=) single nucleotide variant not provided [RCV000917838] ChrX:53413253 [GRCh38]
ChrX:53440203 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.1863C>T (p.Asn621=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000928881] ChrX:53405541 [GRCh38]
ChrX:53432473 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.2184C>A (p.Ala728=) single nucleotide variant not provided [RCV000938328] ChrX:53405024 [GRCh38]
ChrX:53431956 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.381C>T (p.Leu127=) single nucleotide variant not provided [RCV001172012] ChrX:53414788 [GRCh38]
ChrX:53441737 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.3119dup (p.Thr1041fs) duplication Congenital muscular hypertrophy-cerebral syndrome [RCV001249630] ChrX:53383107..53383108 [GRCh38]
ChrX:53410028..53410029 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.1203A>C (p.Lys401Asn) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001231773] ChrX:53411812 [GRCh38]
ChrX:53438762 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.2065A>G (p.Met689Val) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001222901] ChrX:53405143 [GRCh38]
ChrX:53432075 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001165576] ChrX:53396480 [GRCh38]
ChrX:53423400 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.2908T>A (p.Ser970Thr) single nucleotide variant not provided [RCV001172011] ChrX:53394843 [GRCh38]
ChrX:53421763 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*3484G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001167041] ChrX:53376619 [GRCh38]
ChrX:53403540 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*1542T>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001167110] ChrX:53378561 [GRCh38]
ChrX:53405482 [GRCh37]
ChrX:Xp11.22
benign
NM_006306.4(SMC1A):c.2364del (p.Asn788fs) deletion Developmental and epileptic encephalopathy, 85, with or without midline brain defects [RCV001072126] ChrX:53403622 [GRCh38]
ChrX:53430554 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.3187AAG[1] (p.Lys1064del) microsatellite Congenital muscular hypertrophy-cerebral syndrome [RCV001196790] ChrX:53382599..53382601 [GRCh38]
ChrX:53409520..53409522 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_006306.4(SMC1A):c.3063C>T (p.Ala1021=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000935757] ChrX:53383164 [GRCh38]
ChrX:53410085 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.2556C>A (p.Leu852=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000934869] ChrX:53399595 [GRCh38]
ChrX:53426517 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.915C>T (p.Thr305=) single nucleotide variant not provided [RCV000935113] ChrX:53412193 [GRCh38]
ChrX:53439143 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.552T>C (p.Phe184=) single nucleotide variant not provided [RCV000935417] ChrX:53413295 [GRCh38]
ChrX:53440245 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.3177C>T (p.Phe1059=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV000935569] ChrX:53382614 [GRCh38]
ChrX:53409535 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.764G>A (p.Arg255His) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001034190] ChrX:53412990 [GRCh38]
ChrX:53439940 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001252976]|Intellectual disability [RCV001255325] ChrX:53396569 [GRCh38]
ChrX:53423489 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_006306.4(SMC1A):c.*931A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001167687] ChrX:53379172 [GRCh38]
ChrX:53406093 [GRCh37]
ChrX:Xp11.22
benign
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001031001] ChrX:53394803 [GRCh38]
ChrX:53421723 [GRCh37]
ChrX:Xp11.22
likely pathogenic|conflicting interpretations of pathogenicity
NM_006306.4(SMC1A):c.*5251G>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001169465] ChrX:53374852 [GRCh38]
ChrX:53401773 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*4887T>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001169468] ChrX:53375216 [GRCh38]
ChrX:53402137 [GRCh37]
ChrX:Xp11.22
benign
NM_006306.4(SMC1A):c.2477del (p.Asn826fs) deletion Developmental and epileptic encephalopathy, 85, with or without midline brain defects [RCV001072128] ChrX:53399674 [GRCh38]
ChrX:53426596 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.2161C>T (p.Gln721Ter) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001049126] ChrX:53405047 [GRCh38]
ChrX:53431979 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.397T>G (p.Phe133Val) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001048385] ChrX:53414772 [GRCh38]
ChrX:53441721 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.2394del (p.Lys798fs) deletion Developmental and epileptic encephalopathy, 85, with or without midline brain defects [RCV001072131] ChrX:53403592 [GRCh38]
ChrX:53430524 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.*4156A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001166524] ChrX:53375947 [GRCh38]
ChrX:53402868 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.3053A>G (p.Gln1018Arg) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001059977] ChrX:53383174 [GRCh38]
ChrX:53410095 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001059994] ChrX:53381065 [GRCh38]
ChrX:53407986 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*5853A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001166987] ChrX:53374250 [GRCh38]
ChrX:53401171 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*1040G>A single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001167111] ChrX:53379063 [GRCh38]
ChrX:53405984 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.1911G>A (p.Lys637=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001208784] ChrX:53405493 [GRCh38]
ChrX:53432425 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001216313] ChrX:53394778 [GRCh38]
ChrX:53421698 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*488A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001167690] ChrX:53379615 [GRCh38]
ChrX:53406536 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.512G>A (p.Arg171Gln) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001201950] ChrX:53413335 [GRCh38]
ChrX:53440285 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.*5489G>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001168695] ChrX:53374614 [GRCh38]
ChrX:53401535 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.37A>C (p.Lys13Gln) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001055709] ChrX:53422564 [GRCh38]
ChrX:53449513 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_006306.4(SMC1A):c.*2936C>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001168756] ChrX:53377167 [GRCh38]
ChrX:53404088 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.452G>A (p.Arg151Lys) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001213339] ChrX:53413395 [GRCh38]
ChrX:53440345 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.1917G>A (p.Val639=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001165578] ChrX:53405386 [GRCh38]
ChrX:53432318 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.1269A>G (p.Gln423=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001165579] ChrX:53409489 [GRCh38]
ChrX:53436420 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001194642] ChrX:53380646 [GRCh38]
ChrX:53407567 [GRCh37]
ChrX:Xp11.22
likely pathogenic|conflicting interpretations of pathogenicity
NM_006306.4(SMC1A):c.1235G>A (p.Arg412Gln) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001254177] ChrX:53411780 [GRCh38]
ChrX:53438730 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.22(chrX:53188785-53934760)x2 copy number gain not provided [RCV001258794] ChrX:53188785..53934760 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.3490A>G (p.Asn1164Asp) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001265654] ChrX:53381035 [GRCh38]
ChrX:53407956 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_006306.4(SMC1A):c.3205C>T (p.Arg1069Cys) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001256205] ChrX:53382586 [GRCh38]
ChrX:53409507 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp11.22(chrX:53188785-54049698)x3 copy number gain not provided [RCV001258795] ChrX:53188785..54049698 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.310G>A (p.Glu104Lys) single nucleotide variant Inborn genetic diseases [RCV001267109] ChrX:53414859 [GRCh38]
ChrX:53441808 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.3655_3656insCCG (p.Asp1219_Leu1220insAla) insertion Congenital muscular hypertrophy-cerebral syndrome [RCV001342020] ChrX:53380149..53380150 [GRCh38]
ChrX:53407070..53407071 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.1911+7A>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001330229] ChrX:53405486 [GRCh38]
ChrX:53432418 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.1289A>T (p.Glu430Val) single nucleotide variant not provided [RCV001288776] ChrX:53409469 [GRCh38]
ChrX:53436400 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.3570G>A (p.Lys1190=) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001302704] ChrX:53380668 [GRCh38]
ChrX:53407589 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.1731+3G>T single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001351637] ChrX:53405768 [GRCh38]
ChrX:53432700 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.2863-9C>G single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001304670] ChrX:53394897 [GRCh38]
ChrX:53421817 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.1958C>T (p.Ser653Phe) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001270900] ChrX:53405345 [GRCh38]
ChrX:53432277 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.157dup (p.Thr53fs) duplication Congenital muscular hypertrophy-cerebral syndrome [RCV001334531] ChrX:53415121..53415122 [GRCh38]
ChrX:53442070..53442071 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_006306.4(SMC1A):c.2647G>A (p.Glu883Lys) single nucleotide variant not provided [RCV001311389] ChrX:53396533 [GRCh38]
ChrX:53423453 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.1563C>T (p.Asp521=) single nucleotide variant not provided [RCV001311390] ChrX:53405939 [GRCh38]
ChrX:53432871 [GRCh37]
ChrX:Xp11.22
likely benign
NM_006306.4(SMC1A):c.763C>T (p.Arg255Cys) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001320460] ChrX:53412991 [GRCh38]
ChrX:53439941 [GRCh37]
ChrX:Xp11.22
uncertain significance
NC_000023.10:g.(?_53349605)_(53410184_?)dup duplication Congenital muscular hypertrophy-cerebral syndrome [RCV001323425] ChrX:53349605..53410184 [GRCh37]
ChrX:Xp11.22
uncertain significance
NC_000023.10:g.(?_53421678)_(53449569_?)dup duplication Congenital muscular hypertrophy-cerebral syndrome [RCV001309084] ChrX:53421678..53449569 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.2862+3G>C single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001348001] ChrX:53396224 [GRCh38]
ChrX:53423144 [GRCh37]
ChrX:Xp11.22
uncertain significance
NC_000023.10:g.(?_53421698)_(53459359_?)dup duplication not provided [RCV001295820] ChrX:53421698..53459359 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_006306.4(SMC1A):c.3252C>G (p.Ile1084Met) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001340060] ChrX:53382539 [GRCh38]
ChrX:53409460 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_006306.4(SMC1A):c.756C>G (p.Asp252Glu) single nucleotide variant Congenital muscular hypertrophy-cerebral syndrome [RCV001270902] ChrX:53412998 [GRCh38]
ChrX:53439948 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp11.22(chrX:52923471-53765589)x2 copy number gain Intellectual disability [RCV001270430] ChrX:52923471..53765589 [GRCh37]
ChrX:Xp11.22
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11111 AgrOrtholog
COSMIC SMC1A COSMIC
Ensembl Genes ENSG00000072501 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000323421 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364489 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000476416 UniProtKB/TrEMBL
  ENSP00000476958 UniProtKB/TrEMBL
  ENSP00000502524 UniProtKB/TrEMBL
  ENSP00000502626 UniProtKB/TrEMBL
Ensembl Transcript ENST00000322213 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000375340 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000463684 UniProtKB/TrEMBL
  ENST00000470241 UniProtKB/TrEMBL
  ENST00000674590 UniProtKB/TrEMBL
  ENST00000675504 UniProtKB/TrEMBL
GTEx ENSG00000072501 GTEx
HGNC ID HGNC:11111 ENTREZGENE
Human Proteome Map SMC1A Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RecF/RecN/SMC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Smc1_ABC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMC1A_metazoan UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMC_hinge UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMC_hinge_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8243 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8243 ENTREZGENE
OMIM 300040 OMIM
  300590 OMIM
  301044 OMIM
PANTHER PTHR18937:SF170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SMC_hinge UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35961 PharmGKB
PIRSF SMC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SMC_hinge UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF75553 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384MR33_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHC3_HUMAN UniProtKB/TrEMBL
  G8JLG1 ENTREZGENE, UniProtKB/TrEMBL
  Q14683 ENTREZGENE
  Q5H934_HUMAN UniProtKB/TrEMBL
  Q68EN4 ENTREZGENE, UniProtKB/TrEMBL
  Q6P2R1_HUMAN UniProtKB/TrEMBL
  SMC1A_HUMAN UniProtKB/Swiss-Prot
  V9GY57_HUMAN UniProtKB/TrEMBL
  V9GYN9_HUMAN UniProtKB/TrEMBL
UniProt Secondary O14995 UniProtKB/Swiss-Prot
  Q16351 UniProtKB/Swiss-Prot
  Q2M228 UniProtKB/Swiss-Prot