SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2) - Rat Genome Database

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Gene: SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2) Homo sapiens
Analyze
Symbol: SMARCA2
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
RGD ID: 1348339
HGNC Page HGNC:11098
Description: Enables transcription cis-regulatory region binding activity and transcription coactivator activity. Involved in negative regulation of cell growth; negative regulation of cell population proliferation; and regulation of DNA-templated transcription. Located in intermediate filament cytoskeleton and nucleoplasm. Part of SWI/SNF complex. Biomarker of prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP-dependent helicase SMARCA2; BAF190; BAF190B; BIS; brahma homolog; BRG1-associated factor 190B; BRM; FLJ36757; global transcription activator homologous sequence; hBRM; hSNF2a; MGC74511; NCBRS; probable global transcription activator SNF2L2; protein brahma homolog; putative global transcription activator SNF2L2; SNF2; SNF2-alpha; SNF2-like 2; SNF2/SWI2-like protein 2; SNF2L2; SNF2LA; Sth1p; sucrose nonfermenting 2-like protein 2; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a2; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2; SWI2
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
GRCh3892,015,347 - 2,193,624 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl91,980,290 - 2,193,624 (+)EnsemblGRCh38hg38GRCh38
GRCh3792,015,347 - 2,193,624 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3692,005,342 - 2,183,624 (+)NCBINCBI36Build 36hg18NCBI36
Build 3492,005,341 - 2,183,624NCBI
Celera91,933,296 - 2,111,552 (+)NCBICelera
Cytogenetic Map9p24.3NCBI
HuRef91,969,240 - 2,147,484 (+)NCBIHuRef
CHM1_192,015,467 - 2,193,714 (+)NCBICHM1_1
T2T-CHM13v2.092,017,871 - 2,196,087 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-amino-2,6-dinitrotoluene  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
amitrole  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
decabromodiphenyl ether  (EXP,ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
geldanamycin  (EXP)
geraniol  (EXP)
glafenine  (ISO)
hydrazine  (ISO)
indometacin  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
mercury dibromide  (EXP)
methapyrilene  (EXP)
methimazole  (ISO)
methylmercury chloride  (EXP,ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
ozone  (EXP,ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
promegestone  (EXP)
rac-lactic acid  (EXP)
riddelliine  (EXP)
rimonabant  (ISO)
rotenone  (EXP,ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

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

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal cerebral morphology  (IAGP)
Abnormal epiphysis morphology  (IAGP)
Abnormal finger morphology  (IAGP)
Abnormal hair pattern  (IAGP)
Abnormal metacarpal morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Absent eyebrow  (IAGP)
Absent speech  (IAGP)
Accelerated skeletal maturation  (IAGP)
Aggressive behavior  (IAGP)
Alopecia  (IAGP)
Anteverted nares  (IAGP)
Aphasia  (IAGP)
Aplastic/hypoplastic toenail  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Blepharophimosis  (IAGP)
Brachydactyly  (IAGP)
Broad 2nd toe  (IAGP)
Broad distal phalanx of finger  (IAGP)
Broad philtrum  (IAGP)
Bulbous nose  (IAGP)
Cafe-au-lait spot  (IAGP)
Chiari malformation  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clubbing of toes  (IAGP)
Coarctation of aorta  (IAGP)
Constipation  (IAGP)
Cryptorchidism  (IAGP)
Curly eyelashes  (IAGP)
Delayed ability to walk  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Dental malocclusion  (IAGP)
Dimple chin  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
Dry hair  (IAGP)
Echolalia  (IAGP)
Eczematoid dermatitis  (IAGP)
Enamel hypoplasia  (IAGP)
Enlarged joints  (IAGP)
Enuresis  (IAGP)
Epicanthus  (IAGP)
Epileptic spasm  (IAGP)
Everted lower lip vermilion  (IAGP)
Exaggerated cupid's bow  (IAGP)
Excessive wrinkled skin  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Flat face  (IAGP)
Flexion contracture  (IAGP)
Frontal bossing  (IAGP)
Gait ataxia  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hallux valgus  (IAGP)
Hernia  (IAGP)
High, narrow palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hip dysplasia  (IAGP)
Hirsutism  (IAGP)
Hypertelorism  (IAGP)
Hypertrichosis  (IAGP)
Hypoplasia of the pons  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint dislocation  (IAGP)
Joint hypermobility  (IAGP)
Labial hypoplasia  (IAGP)
Long eyelashes  (IAGP)
Long fingers  (IAGP)
Long philtrum  (IAGP)
Long toe  (IAGP)
Low anterior hairline  (IAGP)
Low frustration tolerance  (IAGP)
Low hanging columella  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Macrotia  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Mild short stature  (IAGP)
Motor stereotypy  (IAGP)
Mutism  (IAGP)
Narrow nasal bridge  (IAGP)
Narrow nasal ridge  (IAGP)
Narrow palpebral fissure  (IAGP)
Neonatal onset  (IAGP)
Neurodevelopmental delay  (IAGP)
Overfriendliness  (IAGP)
Patent ductus arteriosus  (IAGP)
Periorbital wrinkles  (IAGP)
Pes planus  (IAGP)
Plagiocephaly  (IAGP)
Poor speech  (IAGP)
Posteriorly rotated ears  (IAGP)
Preauricular skin tag  (IAGP)
Premature skin wrinkling  (IAGP)
Prominent interphalangeal joints  (IAGP)
Ptosis  (IAGP)
Recurrent bronchitis  (IAGP)
Recurrent pneumonia  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent urinary tract infections  (IAGP)
Sandal gap  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe short stature  (IAGP)
Short attention span  (IAGP)
Short distal phalanx of finger  (IAGP)
Short lingual frenulum  (IAGP)
Short metacarpal  (IAGP)
Short metatarsal  (IAGP)
Short nose  (IAGP)
Short palm  (IAGP)
Short palpebral fissure  (IAGP)
Short phalanx of finger  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Smooth philtrum  (IAGP)
Sparse eyebrow  (IAGP)
Sparse eyelashes  (IAGP)
Sparse hair  (IAGP)
Sparse medial eyebrow  (IAGP)
Sparse scalp hair  (IAGP)
Specific learning disability  (IAGP)
Status epilepticus  (IAGP)
Synophrys  (IAGP)
Talipes equinovarus  (IAGP)
Tapered finger  (IAGP)
Thick eyebrow  (IAGP)
Thick lower lip vermilion  (IAGP)
Thick nasal alae  (IAGP)
Thin corpus callosum  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Triangular face  (IAGP)
Umbilical hernia  (IAGP)
Underdeveloped nasal alae  (IAGP)
Unilateral narrow palpebral fissure  (IAGP)
Vein of Galen aneurysmal malformation  (IAGP)
Wide intermamillary distance  (IAGP)
Wide mouth  (IAGP)
Wide nasal base  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
Widely spaced teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ATP-dependent chromatin remodeling: genetics, genomics and mechanisms. Hargreaves DC and Crabtree GR, Cell Res. 2011 Mar;21(3):396-420. doi: 10.1038/cr.2011.32. Epub 2011 Mar 1.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. The bromodomain: From epigenome reader to druggable target. Sanchez R, etal., Biochim Biophys Acta. 2014 Aug;1839(8):676-685. doi: 10.1016/j.bbagrm.2014.03.011. Epub 2014 Mar 28.
8. The spectrum of SWI/SNF mutations, ubiquitous in human cancers. Shain AH and Pollack JR, PLoS One. 2013;8(1):e55119. doi: 10.1371/journal.pone.0055119. Epub 2013 Jan 23.
9. Aberrant expression of SWI/SNF catalytic subunits BRG1/BRM is associated with tumor development and increased invasiveness in prostate cancers. Sun A, etal., Prostate. 2007 Feb 1;67(2):203-13.
Additional References at PubMed
PMID:7565614   PMID:8012116   PMID:8208605   PMID:8223438   PMID:8670841   PMID:8804307   PMID:8889548   PMID:8895581   PMID:9099865   PMID:9128241   PMID:9326598   PMID:9710619  
PMID:9744861   PMID:9891079   PMID:10072425   PMID:10078207   PMID:10619021   PMID:10778858   PMID:10910076   PMID:10938115   PMID:11078522   PMID:11134956   PMID:11175787   PMID:11238380  
PMID:11262242   PMID:11263494   PMID:11274403   PMID:11318604   PMID:11719516   PMID:11734557   PMID:11790558   PMID:11839798   PMID:11850427   PMID:12044884   PMID:12065415   PMID:12110891  
PMID:12192000   PMID:12200431   PMID:12215535   PMID:12368262   PMID:12437990   PMID:12453419   PMID:12477932   PMID:12493776   PMID:12566296   PMID:12620226   PMID:12757710   PMID:14559996  
PMID:14603256   PMID:14657023   PMID:14660596   PMID:14701856   PMID:14702039   PMID:14718574   PMID:15034933   PMID:15075294   PMID:15107404   PMID:15140983   PMID:15141164   PMID:15207703  
PMID:15240517   PMID:15302935   PMID:15314177   PMID:15347669   PMID:15696166   PMID:15774904   PMID:16097034   PMID:16230384   PMID:16341228   PMID:16344560   PMID:16452305   PMID:16565076  
PMID:16601680   PMID:16749937   PMID:16877760   PMID:16889989   PMID:16916647   PMID:16932743   PMID:16940996   PMID:17043312   PMID:17074803   PMID:17081983   PMID:17257825   PMID:17261582  
PMID:17340523   PMID:17546055   PMID:17920018   PMID:17938176   PMID:17984088   PMID:18006815   PMID:18029348   PMID:18042045   PMID:18082132   PMID:18487222   PMID:18660489   PMID:18923443  
PMID:19144648   PMID:19183483   PMID:19363039   PMID:19371634   PMID:19488910   PMID:19525936   PMID:19615732   PMID:19726504   PMID:19759913   PMID:19762545   PMID:19784067   PMID:20011120  
PMID:20093853   PMID:20111005   PMID:20224553   PMID:20305087   PMID:20333683   PMID:20360068   PMID:20379614   PMID:20457675   PMID:20460684   PMID:20467437   PMID:20562864   PMID:20719309  
PMID:21070662   PMID:21079652   PMID:21092585   PMID:21189327   PMID:21262773   PMID:21555454   PMID:21566081   PMID:21638299   PMID:21646426   PMID:21653829   PMID:21873635   PMID:22242598  
PMID:22334708   PMID:22366787   PMID:22368283   PMID:22439931   PMID:22586326   PMID:22721696   PMID:22939629   PMID:22944692   PMID:23088494   PMID:23163725   PMID:23275444   PMID:23276717  
PMID:23322154   PMID:23359823   PMID:23453885   PMID:23524580   PMID:23602572   PMID:23667531   PMID:23698369   PMID:23872584   PMID:23897427   PMID:23963727   PMID:23973329   PMID:24025145  
PMID:24421395   PMID:24457600   PMID:24471421   PMID:24519853   PMID:24520176   PMID:24529757   PMID:24913006   PMID:24981860   PMID:25026375   PMID:25081545   PMID:25169058   PMID:25277244  
PMID:25335168   PMID:25384516   PMID:25416956   PMID:25496315   PMID:25593309   PMID:25673149   PMID:25731772   PMID:25808524   PMID:25910212   PMID:26030138   PMID:26186194   PMID:26344197  
PMID:26356327   PMID:26468571   PMID:26496610   PMID:26551623   PMID:26564006   PMID:26787460   PMID:26949251   PMID:27264538   PMID:27487558   PMID:27591253   PMID:27665729   PMID:27684187  
PMID:27716508   PMID:27827316   PMID:28038711   PMID:28068325   PMID:28070921   PMID:28232072   PMID:28292935   PMID:28296015   PMID:28427211   PMID:28514442   PMID:28571677   PMID:28602977  
PMID:28611094   PMID:28611215   PMID:28678310   PMID:28706277   PMID:28794006   PMID:28892201   PMID:28977666   PMID:29087303   PMID:29273066   PMID:29374058   PMID:29391527   PMID:29467282  
PMID:29478914   PMID:29507755   PMID:29509190   PMID:29848589   PMID:29894502   PMID:29955894   PMID:30021884   PMID:30287812   PMID:30447346   PMID:30463901   PMID:30478150   PMID:30510198  
PMID:30522882   PMID:30554943   PMID:30722027   PMID:30790683   PMID:30946989   PMID:30962207   PMID:31048545   PMID:31091453   PMID:31182584   PMID:31288860   PMID:31355511   PMID:31375262  
PMID:31406271   PMID:31527615   PMID:31586073   PMID:31751681   PMID:31753913   PMID:31906887   PMID:32019955   PMID:32041737   PMID:32073734   PMID:32235678   PMID:32312722   PMID:32344865  
PMID:32376693   PMID:32416067   PMID:32502208   PMID:32513696   PMID:32657847   PMID:32687490   PMID:32694869   PMID:32744500   PMID:32855269   PMID:33005030   PMID:33027072   PMID:33087562  
PMID:33481850   PMID:33536335   PMID:33602783   PMID:33637726   PMID:33640491   PMID:33961781   PMID:34079125   PMID:34244565   PMID:34289068   PMID:34518526   PMID:34551306   PMID:34585037  
PMID:34591612   PMID:34812766   PMID:34857952   PMID:35013218   PMID:35140242   PMID:35182466   PMID:35271311   PMID:35289322   PMID:35390516   PMID:35509820   PMID:35785414   PMID:35811451  
PMID:35831314   PMID:35945219   PMID:36129980   PMID:36215168   PMID:36464671   PMID:37634210   PMID:37827155   PMID:38113892   PMID:38297188  


Genomics

Comparative Map Data
SMARCA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3892,015,347 - 2,193,624 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl91,980,290 - 2,193,624 (+)EnsemblGRCh38hg38GRCh38
GRCh3792,015,347 - 2,193,624 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3692,005,342 - 2,183,624 (+)NCBINCBI36Build 36hg18NCBI36
Build 3492,005,341 - 2,183,624NCBI
Celera91,933,296 - 2,111,552 (+)NCBICelera
Cytogenetic Map9p24.3NCBI
HuRef91,969,240 - 2,147,484 (+)NCBIHuRef
CHM1_192,015,467 - 2,193,714 (+)NCBICHM1_1
T2T-CHM13v2.092,017,871 - 2,196,087 (+)NCBIT2T-CHM13v2.0
Smarca2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391926,582,578 - 26,755,721 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1926,582,450 - 26,755,722 (+)EnsemblGRCm39 Ensembl
GRCm381926,605,073 - 26,778,321 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1926,605,050 - 26,778,322 (+)EnsemblGRCm38mm10GRCm38
MGSCv371926,679,650 - 26,852,811 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361926,672,257 - 26,845,418 (+)NCBIMGSCv36mm8
Celera1927,388,592 - 27,561,569 (+)NCBICelera
Cytogenetic Map19C1NCBI
cM Map1921.17NCBI
Smarca2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81233,617,277 - 233,784,908 (+)NCBIGRCr8
mRatBN7.21224,191,125 - 224,358,640 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1224,191,125 - 224,358,684 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1232,628,052 - 232,795,552 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01239,558,151 - 239,725,654 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01232,378,904 - 232,546,407 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01244,615,811 - 244,783,736 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1244,615,821 - 244,782,706 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01251,867,320 - 252,035,241 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41230,015,057 - 230,183,451 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11230,179,079 - 230,347,474 (+)NCBI
Celera1221,383,226 - 221,550,796 (+)NCBICelera
Cytogenetic Map1q52NCBI
Smarca2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554346,420,854 - 6,594,425 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554346,420,850 - 6,592,797 (+)NCBIChiLan1.0ChiLan1.0
SMARCA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v211122,394,494 - 122,574,119 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan19122,400,390 - 122,580,062 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v091,818,004 - 1,997,652 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.192,043,336 - 2,189,409 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl92,013,237 - 2,189,409 (+)Ensemblpanpan1.1panPan2
SMARCA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1190,709,221 - 90,884,295 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl190,712,520 - 90,883,622 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha191,177,680 - 91,352,646 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0191,256,337 - 91,431,025 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl191,270,959 - 91,431,021 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1190,903,604 - 91,078,531 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0190,622,040 - 90,796,824 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0191,390,477 - 91,565,374 (+)NCBIUU_Cfam_GSD_1.0
Smarca2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947138,171,713 - 138,337,488 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365032,835,496 - 3,001,381 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365032,835,512 - 3,001,365 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMARCA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1219,573,535 - 219,815,421 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11219,624,773 - 219,815,438 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21245,489,523 - 245,677,930 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SMARCA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11277,364,468 - 77,546,356 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1277,375,500 - 77,546,314 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603865,710,587 - 65,892,953 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Smarca2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247366,695,658 - 6,865,809 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247366,681,491 - 6,863,403 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SMARCA2
998 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003070.5(SMARCA2):c.1047-129G>A single nucleotide variant not provided [RCV001581942] Chr9:2054468 [GRCh38]
Chr9:2054468 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2420C>T (p.Thr807Ile) single nucleotide variant SMARCA2-related condition [RCV003419912]|not provided [RCV000522873] Chr9:2084090 [GRCh38]
Chr9:2084090 [GRCh37]
Chr9:9p24.3		 uncertain significance
NG_032162.2:g.118997_171770del deletion Nicolaides-Baraitser syndrome [RCV000022920] Chr9:9p24-p23 pathogenic
NM_003070.5(SMARCA2):c.182G>C (p.Gly61Ala) single nucleotide variant not provided [RCV000520236] Chr9:2029204 [GRCh38]
Chr9:2029204 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3637C>T (p.Arg1213Trp) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000022908]|not provided [RCV000059683] Chr9:2116002 [GRCh38]
Chr9:2116002 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic|not provided
NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000022909]|not provided [RCV000059681] Chr9:2115969 [GRCh38]
Chr9:2115969 [GRCh37]
Chr9:9p24.3		 pathogenic|not provided
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000022910]|SMARCA2-related BAFopathy [RCV001533105]|not provided [RCV000059676] Chr9:2115841 [GRCh38]
Chr9:2115841 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic|not provided
NM_003070.5(SMARCA2):c.3473A>T (p.Asp1158Val) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000022911]|not provided [RCV000059674] Chr9:2115838 [GRCh38]
Chr9:2115838 [GRCh37]
Chr9:9p24.3		 pathogenic|not provided
NM_003070.5(SMARCA2):c.3475C>G (p.Arg1159Gly) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000022912]|not provided [RCV000059675] Chr9:2115840 [GRCh38]
Chr9:2115840 [GRCh37]
Chr9:9p24.3		 pathogenic|not provided
NM_003070.5(SMARCA2):c.2642G>T (p.Gly881Val) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000022913]|not provided [RCV000059665] Chr9:2086944 [GRCh38]
Chr9:2086944 [GRCh37]
Chr9:9p24.3		 pathogenic|not provided
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000022914]|not provided [RCV000059678] Chr9:2115850 [GRCh38]
Chr9:2115850 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic|not provided
NM_003070.5(SMARCA2):c.3476G>T (p.Arg1159Leu) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000022915]|not provided [RCV000059677] Chr9:2115841 [GRCh38]
Chr9:2115841 [GRCh37]
Chr9:9p24.3		 pathogenic|not provided
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000022916]|SMARCA2-related BAFopathy [RCV001533103]|not provided [RCV000059666] Chr9:2086950 [GRCh38]
Chr9:2086950 [GRCh37]
Chr9:9p24.3		 pathogenic|not provided
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) single nucleotide variant Hirsutism [RCV001261297]|Intellectual disability [RCV001260811]|Nicolaides-Baraitser syndrome [RCV000022917]|not provided [RCV000059680] Chr9:2115967 [GRCh38]
Chr9:2115967 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic|not provided
NM_003070.5(SMARCA2):c.2815C>T (p.His939Tyr) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000022918]|not provided [RCV000059667] Chr9:2088545 [GRCh38]
Chr9:2088545 [GRCh37]
Chr9:9p24.3		 pathogenic|not provided
NM_003070.5(SMARCA2):c.2255G>C (p.Gly752Ala) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000022919]|not provided [RCV000059656] Chr9:2081902 [GRCh38]
Chr9:2081902 [GRCh37]
Chr9:9p24.3		 pathogenic|not provided
NM_003070.5(SMARCA2):c.3395G>A (p.Gly1132Asp) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000024365] Chr9:2110356 [GRCh38]
Chr9:2110356 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.-5G>A single nucleotide variant Inborn genetic diseases [RCV002312011]|Nicolaides-Baraitser syndrome [RCV000374500]|not provided [RCV001594837]|not specified [RCV000114284] Chr9:2029018 [GRCh38]
Chr9:2029018 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1122C>G (p.Thr374=) single nucleotide variant Inborn genetic diseases [RCV002312012]|Nicolaides-Baraitser syndrome [RCV000260880]|not provided [RCV001561354]|not specified [RCV000114285] Chr9:2054672 [GRCh38]
Chr9:2054672 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.174G>A (p.Pro58=) single nucleotide variant Inborn genetic diseases [RCV002312013]|Nicolaides-Baraitser syndrome [RCV000316494]|not provided [RCV001647122]|not specified [RCV000114286] Chr9:2029196 [GRCh38]
Chr9:2029196 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.177G>A (p.Thr59=) single nucleotide variant Inborn genetic diseases [RCV002312014]|Nicolaides-Baraitser syndrome [RCV000286524]|not provided [RCV001610394]|not specified [RCV000114287] Chr9:2029199 [GRCh38]
Chr9:2029199 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1827A>G (p.Pro609=) single nucleotide variant Inborn genetic diseases [RCV002312015]|Nicolaides-Baraitser syndrome [RCV000383719]|not provided [RCV001650945]|not specified [RCV000114288] Chr9:2073292 [GRCh38]
Chr9:2073292 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3672G>A (p.Glu1224=) single nucleotide variant Inborn genetic diseases [RCV002312016]|Nicolaides-Baraitser syndrome [RCV000360701]|not provided [RCV001668220]|not specified [RCV000114289] Chr9:2116037 [GRCh38]
Chr9:2116037 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4590C>T (p.Ser1530=) single nucleotide variant Inborn genetic diseases [RCV002312017]|Nicolaides-Baraitser syndrome [RCV000405568]|not provided [RCV001668221]|not specified [RCV000114290] Chr9:2186224 [GRCh38]
Chr9:2186224 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.462G>A (p.Gly154=) single nucleotide variant Inborn genetic diseases [RCV002313851]|Nicolaides-Baraitser syndrome [RCV000377410]|not provided [RCV001668222]|not specified [RCV000114291] Chr9:2039572 [GRCh38]
Chr9:2039572 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu) single nucleotide variant Inborn genetic diseases [RCV002312018]|Nicolaides-Baraitser syndrome [RCV000298011]|Nicolaides-Baraitser syndrome [RCV002498477]|not provided [RCV001650946]|not specified [RCV000114292] Chr9:2191309 [GRCh38]
Chr9:2191309 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.482C>T (p.Pro161Leu) single nucleotide variant Coffin Siris/Intellectual Disability [RCV000114293]|Inborn genetic diseases [RCV002326808]|not provided [RCV003326349] Chr9:2039592 [GRCh38]
Chr9:2039592 [GRCh37]
Chr9:9p24.3		 benign|likely benign|uncertain significance
NM_003070.5(SMARCA2):c.683A>C (p.Gln228Pro) single nucleotide variant Inborn genetic diseases [RCV002312019]|Nicolaides-Baraitser syndrome [RCV000351026]|not provided [RCV001598621]|not specified [RCV000114294] Chr9:2039793 [GRCh38]
Chr9:2039793 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.669GCA[19] (p.Gln233_Gln238dup) microsatellite Coffin Siris/Intellectual Disability [RCV000114295]|Nicolaides-Baraitser syndrome [RCV001262347] Chr9:2039776..2039777 [GRCh38]
Chr9:2039776..2039777 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del) microsatellite Inborn genetic diseases [RCV002312020]|Nicolaides-Baraitser syndrome [RCV002490760]|not provided [RCV001668223]|not specified [RCV000114296] Chr9:2039777..2039779 [GRCh38]
Chr9:2039777..2039779 [GRCh37]
Chr9:9p24.3		 pathogenic|benign|likely benign
NM_003070.5(SMARCA2):c.717G>A (p.Pro239=) single nucleotide variant Inborn genetic diseases [RCV002312021]|Nicolaides-Baraitser syndrome [RCV000262081]|not provided [RCV001647123]|not specified [RCV000114297] Chr9:2039827 [GRCh38]
Chr9:2039827 [GRCh37]
Chr9:9p24.3		 benign|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1 copy number loss See cases [RCV000050831] Chr9:204193..13974100 [GRCh38]
Chr9:204193..13974099 [GRCh37]
Chr9:194193..13964099 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3(chr9:839152-2094920)x3 copy number gain See cases [RCV000050902] Chr9:839152..2094920 [GRCh38]
Chr9:839152..2094920 [GRCh37]
Chr9:829152..2084920 [NCBI36]
Chr9:9p24.3		 uncertain significance
GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3 copy number gain See cases [RCV000050612] Chr9:1592306..12387899 [GRCh38]
Chr9:1592306..12387899 [GRCh37]
Chr9:1582306..12377899 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:220253-3793376)x1 copy number loss See cases [RCV000051039] Chr9:220253..3793376 [GRCh38]
Chr9:220253..3793376 [GRCh37]
Chr9:210253..3783376 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:1998911-2925112)x3 copy number gain See cases [RCV000052217] Chr9:1998911..2925112 [GRCh38]
Chr9:1998911..2925112 [GRCh37]
Chr9:1988911..2915112 [NCBI36]
Chr9:9p24.3-24.2		 uncertain significance
GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1 copy number loss See cases [RCV000052856] Chr9:211087..13754567 [GRCh38]
Chr9:211087..13754566 [GRCh37]
Chr9:201087..13744566 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1 copy number loss See cases [RCV000052858] Chr9:220253..6073001 [GRCh38]
Chr9:220253..6073001 [GRCh37]
Chr9:210253..6063001 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1 copy number loss See cases [RCV000052859] Chr9:220253..5140455 [GRCh38]
Chr9:220253..5140455 [GRCh37]
Chr9:210253..5130455 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 copy number loss See cases [RCV000052860] Chr9:220253..18073359 [GRCh38]
Chr9:220253..18073357 [GRCh37]
Chr9:210253..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1 copy number loss See cases [RCV000052861] Chr9:220253..6968724 [GRCh38]
Chr9:220253..6968724 [GRCh37]
Chr9:210253..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:280255-3905421)x1 copy number loss See cases [RCV000052862] Chr9:280255..3905421 [GRCh38]
Chr9:280255..3905421 [GRCh37]
Chr9:270255..3895421 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 copy number loss See cases [RCV000052863] Chr9:1242978..18957216 [GRCh38]
Chr9:1242978..18957214 [GRCh37]
Chr9:1232978..18947214 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204193-3468435)x3 copy number gain See cases [RCV000053705] Chr9:204193..3468435 [GRCh38]
Chr9:204193..3468435 [GRCh37]
Chr9:194193..3458435 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:203993-4164349)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054328]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054328]|See cases [RCV000054328] Chr9:203993..4164349 [GRCh38]
Chr9:203993..4164349 [GRCh37]
Chr9:193993..4154349 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1 copy number loss See cases [RCV000054331] Chr9:204193..10340779 [GRCh38]
Chr9:204193..10340779 [GRCh37]
Chr9:194193..10330779 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-12302772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|See cases [RCV000054332] Chr9:204193..12302772 [GRCh38]
Chr9:204193..12302772 [GRCh37]
Chr9:194193..12292772 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|See cases [RCV000054334] Chr9:204193..13276053 [GRCh38]
Chr9:204193..13276052 [GRCh37]
Chr9:194193..13266052 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-9363321)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|See cases [RCV000054336] Chr9:204193..9363321 [GRCh38]
Chr9:204193..9363321 [GRCh37]
Chr9:194193..9353321 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|See cases [RCV000054338] Chr9:204193..13454719 [GRCh38]
Chr9:204193..13454718 [GRCh37]
Chr9:194193..13444718 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1 copy number loss See cases [RCV000054340] Chr9:211086..6106482 [GRCh38]
Chr9:211086..6106482 [GRCh37]
Chr9:201086..6096482 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1 copy number loss See cases [RCV000054341] Chr9:211086..11867480 [GRCh38]
Chr9:211086..11867480 [GRCh37]
Chr9:201086..11857480 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 copy number loss See cases [RCV000054315] Chr9:111216..14650762 [GRCh38]
Chr9:111216..14650760 [GRCh37]
Chr9:101216..14640760 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1 copy number loss See cases [RCV000054316] Chr9:195399..11081440 [GRCh38]
Chr9:199707..11081440 [GRCh37]
Chr9:182102..11071440 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|See cases [RCV000054317] Chr9:203993..13753101 [GRCh38]
Chr9:203993..13753100 [GRCh37]
Chr9:193993..13743100 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-12621562)x1 copy number loss See cases [RCV000054327] Chr9:203993..12621562 [GRCh38]
Chr9:203993..12621562 [GRCh37]
Chr9:193993..12611562 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_003070.4(SMARCA2):c.380C>T (p.Pro127Leu) single nucleotide variant Malignant melanoma [RCV000068618] Chr9:2039490 [GRCh38]
Chr9:2039490 [GRCh37]
Chr9:2029490 [NCBI36]
Chr9:9p24.3		 not provided
NM_003070.5(SMARCA2):c.2264A>G (p.Lys755Arg) single nucleotide variant not provided [RCV000059657] Chr9:2081911 [GRCh38]
Chr9:2081911 [GRCh37]
Chr9:9p24.3		 not provided
NM_003070.5(SMARCA2):c.2267C>T (p.Thr756Ile) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000679901]|SMARCA2-related BAFopathy [RCV001533098]|not provided [RCV000059658] Chr9:2081914 [GRCh38]
Chr9:2081914 [GRCh37]
Chr9:9p24.3		 uncertain significance|not provided
NM_003070.5(SMARCA2):c.2551G>C (p.Asp851His) single nucleotide variant not provided [RCV000059659] Chr9:2086853 [GRCh38]
Chr9:2086853 [GRCh37]
Chr9:9p24.3		 not provided
NM_003070.5(SMARCA2):c.2554G>A (p.Glu852Lys) single nucleotide variant Blepharophimosis-impaired intellectual development syndrome [RCV003326346]|not provided [RCV000059660] Chr9:2086856 [GRCh38]
Chr9:2086856 [GRCh37]
Chr9:9p24.3		 pathogenic|not provided
NM_003070.5(SMARCA2):c.2556A>C (p.Glu852Asp) single nucleotide variant not provided [RCV000059661] Chr9:2086858 [GRCh38]
Chr9:2086858 [GRCh37]
Chr9:9p24.3		 not provided
NM_003070.5(SMARCA2):c.2561A>G (p.His854Arg) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001249330]|not provided [RCV000059662] Chr9:2086863 [GRCh38]
Chr9:2086863 [GRCh37]
Chr9:9p24.3		 not provided
NM_003070.5(SMARCA2):c.2563C>G (p.Arg855Gly) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001270388]|not provided [RCV000059663] Chr9:2086865 [GRCh38]
Chr9:2086865 [GRCh37]
Chr9:9p24.3		 pathogenic|not provided
NM_003070.5(SMARCA2):c.2641G>C (p.Gly881Arg) single nucleotide variant not provided [RCV000059664] Chr9:2086943 [GRCh38]
Chr9:2086943 [GRCh37]
Chr9:9p24.3		 not provided
NM_003070.5(SMARCA2):c.2837T>C (p.Leu946Ser) single nucleotide variant not provided [RCV000059668] Chr9:2088567 [GRCh38]
Chr9:2088567 [GRCh37]
Chr9:9p24.3		 not provided
NM_003070.5(SMARCA2):c.2838A>T (p.Leu946Phe) single nucleotide variant not provided [RCV000059669] Chr9:2088568 [GRCh38]
Chr9:2088568 [GRCh37]
Chr9:9p24.3		 not provided
NM_003070.5(SMARCA2):c.3313C>T (p.Arg1105Cys) single nucleotide variant Nicolaides-Baraitser syndrome [RCV002470756]|not provided [RCV000059670] Chr9:2110274 [GRCh38]
Chr9:2110274 [GRCh37]
Chr9:9p24.3		 pathogenic|not provided
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro) single nucleotide variant Nicolaides-Baraitser syndrome [RCV002255112]|not provided [RCV000059671] Chr9:2110275 [GRCh38]
Chr9:2110275 [GRCh37]
Chr9:9p24.3		 likely pathogenic|not provided
NM_003070.5(SMARCA2):c.3404T>C (p.Leu1135Pro) single nucleotide variant not provided [RCV000059672] Chr9:2110365 [GRCh38]
Chr9:2110365 [GRCh37]
Chr9:9p24.3		 not provided
NM_003070.5(SMARCA2):c.3436A>C (p.Ser1146Arg) single nucleotide variant not provided [RCV000059673] Chr9:2110397 [GRCh38]
Chr9:2110397 [GRCh37]
Chr9:9p24.3		 not provided
NM_003070.5(SMARCA2):c.3562G>C (p.Ala1188Pro) single nucleotide variant not provided [RCV000059679] Chr9:2115927 [GRCh38]
Chr9:2115927 [GRCh37]
Chr9:9p24.3		 not provided
NM_003070.5(SMARCA2):c.3614A>G (p.Asp1205Gly) single nucleotide variant not provided [RCV000059682] Chr9:2115979 [GRCh38]
Chr9:2115979 [GRCh37]
Chr9:9p24.3		 not provided
GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1 copy number loss See cases [RCV000133873] Chr9:204193..10473327 [GRCh38]
Chr9:204193..10473327 [GRCh37]
Chr9:194193..10463327 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1 copy number loss See cases [RCV000133728] Chr9:204193..10164955 [GRCh38]
Chr9:204193..10164955 [GRCh37]
Chr9:194193..10154955 [NCBI36]
Chr9:9p24.3-23		 pathogenic
NM_003070.4(SMARCA2):c.666_667insCAGCAG (p.Gln238_Pro239insGlnGln) insertion not specified [RCV000202841] Chr9:2039776..2039777 [GRCh38]
Chr9:2039776..2039777 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh38/hg38 9p24.3-24.2(chr9:204193-4210335)x1 copy number loss See cases [RCV000134138] Chr9:204193..4210335 [GRCh38]
Chr9:204193..4210335 [GRCh37]
Chr9:194193..4200335 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1 copy number loss See cases [RCV000134126] Chr9:204090..13146846 [GRCh38]
Chr9:204090..13146845 [GRCh37]
Chr9:194090..13136845 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1 copy number loss See cases [RCV000133923] Chr9:204193..11277770 [GRCh38]
Chr9:204193..11277770 [GRCh37]
Chr9:194193..11267770 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 copy number loss See cases [RCV000135660] Chr9:220253..18708805 [GRCh38]
Chr9:220253..18708803 [GRCh37]
Chr9:210253..18698803 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1 copy number loss See cases [RCV000135434] Chr9:220253..8866675 [GRCh38]
Chr9:220253..8866675 [GRCh37]
Chr9:210253..8856675 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1 copy number loss See cases [RCV000135544] Chr9:204193..6968724 [GRCh38]
Chr9:204193..6968724 [GRCh37]
Chr9:194193..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1 copy number loss See cases [RCV000135563] Chr9:204193..10852686 [GRCh38]
Chr9:204193..10852686 [GRCh37]
Chr9:194193..10842686 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1 copy number loss See cases [RCV000135935] Chr9:204104..11298187 [GRCh38]
Chr9:204104..11298187 [GRCh37]
Chr9:194104..11288187 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1 copy number loss See cases [RCV000136966] Chr9:204193..11435662 [GRCh38]
Chr9:204193..11435662 [GRCh37]
Chr9:194193..11425662 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 copy number loss See cases [RCV000137669] Chr9:204104..14182668 [GRCh38]
Chr9:204104..14182667 [GRCh37]
Chr9:194104..14172667 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1 copy number loss See cases [RCV000137455] Chr9:204104..8266492 [GRCh38]
Chr9:204104..8266492 [GRCh37]
Chr9:194104..8256492 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3 copy number gain See cases [RCV000137382] Chr9:204104..11610300 [GRCh38]
Chr9:204104..11610300 [GRCh37]
Chr9:194104..11600300 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5426099)x3 copy number gain See cases [RCV000137339] Chr9:204104..5426099 [GRCh38]
Chr9:204104..5426099 [GRCh37]
Chr9:194104..5416099 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204104-3367760)x1 copy number loss See cases [RCV000137259] Chr9:204104..3367760 [GRCh38]
Chr9:204104..3367760 [GRCh37]
Chr9:194104..3357760 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1 copy number loss See cases [RCV000137376] Chr9:204104..5695507 [GRCh38]
Chr9:204104..5695507 [GRCh37]
Chr9:194104..5685507 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5657733)x1 copy number loss See cases [RCV000138118] Chr9:204104..5657733 [GRCh38]
Chr9:204104..5657733 [GRCh37]
Chr9:194104..5647733 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1 copy number loss See cases [RCV000138119] Chr9:204104..10023901 [GRCh38]
Chr9:204104..10023901 [GRCh37]
Chr9:194104..10013901 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1 copy number loss See cases [RCV000137745] Chr9:204104..7133443 [GRCh38]
Chr9:204104..7133443 [GRCh37]
Chr9:194104..7123443 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204104-3755031)x1 copy number loss See cases [RCV000137914] Chr9:204104..3755031 [GRCh38]
Chr9:204104..3755031 [GRCh37]
Chr9:194104..3745031 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1 copy number loss See cases [RCV000140410] Chr9:204104..6322471 [GRCh38]
Chr9:204104..6322471 [GRCh37]
Chr9:194104..6312471 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1 copy number loss See cases [RCV000139566] Chr9:204090..9282864 [GRCh38]
Chr9:204090..9282864 [GRCh37]
Chr9:194090..9272864 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1 copy number loss See cases [RCV000141407] Chr9:185579..7635806 [GRCh38]
Chr9:185579..7635806 [GRCh37]
Chr9:175579..7625806 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1 copy number loss See cases [RCV000141408] Chr9:211086..11457340 [GRCh38]
Chr9:211086..11457340 [GRCh37]
Chr9:201086..11447340 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1 copy number loss See cases [RCV000140601] Chr9:211086..7444397 [GRCh38]
Chr9:211086..7444397 [GRCh37]
Chr9:201086..7434397 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:1845513-3022547)x3 copy number gain See cases [RCV000140756] Chr9:1845513..3022547 [GRCh38]
Chr9:1845513..3022547 [GRCh37]
Chr9:1835513..3012547 [NCBI36]
Chr9:9p24.3-24.2		 uncertain significance
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 copy number loss See cases [RCV000141442] Chr9:322690..16401656 [GRCh38]
Chr9:322690..16401654 [GRCh37]
Chr9:312690..16391654 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:203861-4585050)x1 copy number loss See cases [RCV000142301] Chr9:203861..4585050 [GRCh38]
Chr9:203861..4585050 [GRCh37]
Chr9:193861..4575050 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1 copy number loss See cases [RCV000142074] Chr9:203861..8172957 [GRCh38]
Chr9:203861..8172957 [GRCh37]
Chr9:193861..8162957 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204090-4970154)x3 copy number gain See cases [RCV000142816] Chr9:204090..4970154 [GRCh38]
Chr9:204090..4970154 [GRCh37]
Chr9:194090..4960154 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1 copy number loss See cases [RCV000142688] Chr9:220253..7733826 [GRCh38]
Chr9:220253..7733826 [GRCh37]
Chr9:210253..7723826 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:266045-3346702)x1 copy number loss See cases [RCV000142630] Chr9:266045..3346702 [GRCh38]
Chr9:266045..3346702 [GRCh37]
Chr9:256045..3336702 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:203861-5094461)x1 copy number loss See cases [RCV000143637] Chr9:203861..5094461 [GRCh38]
Chr9:203861..5094461 [GRCh37]
Chr9:193861..5084461 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
NM_003070.5(SMARCA2):c.1296G>C (p.Leu432=) single nucleotide variant not specified [RCV000192839] Chr9:2056794 [GRCh38]
Chr9:2056794 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3021C>G (p.Asn1007Lys) single nucleotide variant not provided [RCV000255130] Chr9:2097414 [GRCh38]
Chr9:2097414 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.513C>A (p.Pro171=) single nucleotide variant Inborn genetic diseases [RCV002315505]|not provided [RCV001689730]|not specified [RCV000193356] Chr9:2039623 [GRCh38]
Chr9:2039623 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=) single nucleotide variant Inborn genetic diseases [RCV002408859]|Nicolaides-Baraitser syndrome [RCV000287798]|not provided [RCV001618341]|not specified [RCV000193816] Chr9:2073319 [GRCh38]
Chr9:2073319 [GRCh37]
Chr9:9p24.3		 benign|likely benign|uncertain significance
NM_003070.5(SMARCA2):c.4164C>T (p.Asn1388=) single nucleotide variant not provided [RCV002517979]|not specified [RCV000194956] Chr9:2161868 [GRCh38]
Chr9:2161868 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.2486C>T (p.Thr829Ile) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000195199] Chr9:2084156 [GRCh38]
Chr9:2084156 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic
NM_003070.5(SMARCA2):c.1600G>T (p.Asp534Tyr) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000196887]|not provided [RCV003223620] Chr9:2060894 [GRCh38]
Chr9:2060894 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic
NM_003070.5(SMARCA2):c.669GCA[8] (p.Gln234_Gln238del) microsatellite Inborn genetic diseases [RCV002315506]|not provided [RCV000513731]|not specified [RCV000194391] Chr9:2039777..2039791 [GRCh38]
Chr9:2039777..2039791 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.3482A>G (p.His1161Arg) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000200789] Chr9:2115847 [GRCh38]
Chr9:2115847 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.3385G>C (p.Gly1129Arg) single nucleotide variant not specified [RCV000193240] Chr9:2110346 [GRCh38]
Chr9:2110346 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3493C>A (p.Gln1165Lys) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000194318] Chr9:2115858 [GRCh38]
Chr9:2115858 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del) microsatellite Inborn genetic diseases [RCV002517980]|not provided [RCV001529698]|not specified [RCV000192369] Chr9:2039777..2039785 [GRCh38]
Chr9:2039777..2039785 [GRCh37]
Chr9:9p24.3		 benign|likely benign|uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1 copy number loss See cases [RCV000239799] Chr9:13997..11376705 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln236_Gln238dup) microsatellite Inborn genetic diseases [RCV002312443]|Nicolaides-Baraitser syndrome [RCV002493272]|not provided [RCV001527980]|not specified [RCV001727797] Chr9:2039776..2039777 [GRCh38]
Chr9:2039776..2039777 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.3313C>G (p.Arg1105Gly) single nucleotide variant not provided [RCV000320669] Chr9:2110274 [GRCh38]
Chr9:2110274 [GRCh37]
Chr9:9p24.3		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
NM_003070.5(SMARCA2):c.4486C>A (p.Gln1496Lys) single nucleotide variant Inborn genetic diseases [RCV000622477] Chr9:2186120 [GRCh38]
Chr9:2186120 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_003070.5(SMARCA2):c.2552A>G (p.Asp851Gly) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000258017] Chr9:2086854 [GRCh38]
Chr9:2086854 [GRCh37]
Chr9:9p24.3		 likely pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
NM_003070.5(SMARCA2):c.*716A>G single nucleotide variant Nicolaides-Baraitser syndrome [RCV000266919] Chr9:2193455 [GRCh38]
Chr9:2193455 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.750A>G (p.Gln250=) single nucleotide variant Inborn genetic diseases [RCV002314107]|Nicolaides-Baraitser syndrome [RCV000300924]|SMARCA2-related condition [RCV003912574]|not provided [RCV001613230] Chr9:2039860 [GRCh38]
Chr9:2039860 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.1806C>T (p.Thr602=) single nucleotide variant Inborn genetic diseases [RCV002411267]|Nicolaides-Baraitser syndrome [RCV000322131]|not provided [RCV001764338]|not specified [RCV001821119] Chr9:2073271 [GRCh38]
Chr9:2073271 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.708A>G (p.Gln236=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000368203]|not provided [RCV001618670] Chr9:2039818 [GRCh38]
Chr9:2039818 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.2991+10G>A single nucleotide variant Nicolaides-Baraitser syndrome [RCV000394936]|not provided [RCV002058792] Chr9:2096774 [GRCh38]
Chr9:2096774 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4440G>A (p.Thr1480=) single nucleotide variant Inborn genetic diseases [RCV002317875]|Nicolaides-Baraitser syndrome [RCV000370596]|not provided [RCV001613233] Chr9:2182221 [GRCh38]
Chr9:2182221 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4595-7G>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV000396684]|Nicolaides-Baraitser syndrome [RCV002502407]|not provided [RCV001692076] Chr9:2191259 [GRCh38]
Chr9:2191259 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.695A>C (p.Gln232Pro) single nucleotide variant Inborn genetic diseases [RCV002365441]|Nicolaides-Baraitser syndrome [RCV000396706]|not provided [RCV001613229] Chr9:2039805 [GRCh38]
Chr9:2039805 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.*620T>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV000397019] Chr9:2193359 [GRCh38]
Chr9:2193359 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.669G>A (p.Gln223=) single nucleotide variant Inborn genetic diseases [RCV002314106]|Nicolaides-Baraitser syndrome [RCV000396701]|not provided [RCV001709639] Chr9:2039779 [GRCh38]
Chr9:2039779 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4257A>C (p.Ser1419=) single nucleotide variant Inborn genetic diseases [RCV002317874]|Nicolaides-Baraitser syndrome [RCV000304174]|SMARCA2-related condition [RCV003922650]|not provided [RCV001538332] Chr9:2181574 [GRCh38]
Chr9:2181574 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.1422G>A (p.Gln474=) single nucleotide variant Inborn genetic diseases [RCV002392928]|Nicolaides-Baraitser syndrome [RCV000323180]|SMARCA2-related condition [RCV003912575]|not provided [RCV001613231] Chr9:2058365 [GRCh38]
Chr9:2058365 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.666A>G (p.Gln222=) single nucleotide variant Inborn genetic diseases [RCV002314105]|Nicolaides-Baraitser syndrome [RCV000347067]|not provided [RCV001653760] Chr9:2039776 [GRCh38]
Chr9:2039776 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.1877+9T>A single nucleotide variant Nicolaides-Baraitser syndrome [RCV000347398] Chr9:2073351 [GRCh38]
Chr9:2073351 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4584A>G (p.Ser1528=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000347477]|not provided [RCV002523776] Chr9:2186218 [GRCh38]
Chr9:2186218 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.3685-6C>A single nucleotide variant Nicolaides-Baraitser syndrome [RCV000270759]|SMARCA2-related condition [RCV003902430]|not provided [RCV002292546] Chr9:2119452 [GRCh38]
Chr9:2119452 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4499A>C (p.Lys1500Thr) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000286872] Chr9:2186133 [GRCh38]
Chr9:2186133 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.*726T>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV000305665] Chr9:2193465 [GRCh38]
Chr9:2193465 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.3939C>T (p.Asp1313=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000325986]|SMARCA2-related condition [RCV003922649]|not provided [RCV003718229] Chr9:2123895 [GRCh38]
Chr9:2123895 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.*138C>T single nucleotide variant Nicolaides-Baraitser syndrome [RCV000348490] Chr9:2192877 [GRCh38]
Chr9:2192877 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.3438C>T (p.Ser1146=) single nucleotide variant Inborn genetic diseases [RCV002311440]|Nicolaides-Baraitser syndrome [RCV000306023]|not provided [RCV001672722] Chr9:2110399 [GRCh38]
Chr9:2110399 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.*9G>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV000326245]|not provided [RCV001563024] Chr9:2192748 [GRCh38]
Chr9:2192748 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.677A>C (p.Gln226Pro) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000307550]|not provided [RCV001591038] Chr9:2039787 [GRCh38]
Chr9:2039787 [GRCh37]
Chr9:9p24.3		 benign|likely benign|uncertain significance
NM_003070.5(SMARCA2):c.483G>T (p.Pro161=) single nucleotide variant Inborn genetic diseases [RCV002311439]|Nicolaides-Baraitser syndrome [RCV000289828]|not provided [RCV001530826]|not specified [RCV001821118] Chr9:2039593 [GRCh38]
Chr9:2039593 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.*29C>T single nucleotide variant Nicolaides-Baraitser syndrome [RCV000290960] Chr9:2192768 [GRCh38]
Chr9:2192768 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.*324G>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV000351928] Chr9:2193063 [GRCh38]
Chr9:2193063 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser) single nucleotide variant Inborn genetic diseases [RCV002317870]|Nicolaides-Baraitser syndrome [RCV000378612]|not provided [RCV000513066] Chr9:2029197 [GRCh38]
Chr9:2029197 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003070.5(SMARCA2):c.791-7C>T single nucleotide variant Nicolaides-Baraitser syndrome [RCV000353326]|not provided [RCV001555045] Chr9:2047222 [GRCh38]
Chr9:2047222 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.1737G>A (p.Pro579=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000380103]|SMARCA2-related condition [RCV003970079]|not provided [RCV001764337] Chr9:2070462 [GRCh38]
Chr9:2070462 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4761G>A (p.Thr1587=) single nucleotide variant Inborn genetic diseases [RCV002314109]|Nicolaides-Baraitser syndrome [RCV000380450]|not provided [RCV001672723] Chr9:2192727 [GRCh38]
Chr9:2192727 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.3165T>C (p.Leu1055=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000355333] Chr9:2104042 [GRCh38]
Chr9:2104042 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4679G>A (p.Arg1560Gln) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000355151] Chr9:2191350 [GRCh38]
Chr9:2191350 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4207G>A (p.Val1403Met) single nucleotide variant Inborn genetic diseases [RCV002317873]|Nicolaides-Baraitser syndrome [RCV000403711]|SMARCA2-related condition [RCV003932520]|not provided [RCV001692075] Chr9:2170426 [GRCh38]
Chr9:2170426 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.2770-7C>G single nucleotide variant Nicolaides-Baraitser syndrome [RCV000403946]|SMARCA2-related condition [RCV003972546]|not provided [RCV000971552] Chr9:2088493 [GRCh38]
Chr9:2088493 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.2349-3T>C single nucleotide variant Inborn genetic diseases [RCV002446628]|Nicolaides-Baraitser syndrome [RCV000293551]|not provided [RCV001552639] Chr9:2083344 [GRCh38]
Chr9:2083344 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.701A>C (p.Gln234Pro) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000311265] Chr9:2039811 [GRCh38]
Chr9:2039811 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.*16T>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV000383204] Chr9:2192755 [GRCh38]
Chr9:2192755 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.1962G>A (p.Gln654=) single nucleotide variant Inborn genetic diseases [RCV002418224]|Nicolaides-Baraitser syndrome [RCV000383273]|SMARCA2-related condition [RCV003932519]|not provided [RCV001683452] Chr9:2076255 [GRCh38]
Chr9:2076255 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.2907C>T (p.Asp969=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000313467] Chr9:2096680 [GRCh38]
Chr9:2096680 [GRCh37]
Chr9:9p24.3		 benign|uncertain significance
NM_003070.5(SMARCA2):c.2933A>T (p.Tyr978Phe) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000335495] Chr9:2096706 [GRCh38]
Chr9:2096706 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) single nucleotide variant Inborn genetic diseases [RCV002338962]|Nicolaides-Baraitser syndrome [RCV000358448]|SMARCA2-related condition [RCV003972547]|not provided [RCV000902448]|not specified [RCV000500561] Chr9:2191388 [GRCh38]
Chr9:2191388 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.*698T>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV000359162] Chr9:2193437 [GRCh38]
Chr9:2193437 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.*181C>T single nucleotide variant Nicolaides-Baraitser syndrome [RCV000406743] Chr9:2192920 [GRCh38]
Chr9:2192920 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4699G>C (p.Val1567Leu) single nucleotide variant Inborn genetic diseases [RCV002314108]|Nicolaides-Baraitser syndrome [RCV000262617]|not provided [RCV001692077] Chr9:2191370 [GRCh38]
Chr9:2191370 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4029T>A (p.Leu1343=) single nucleotide variant Inborn genetic diseases [RCV002374608]|Nicolaides-Baraitser syndrome [RCV000279033]|not provided [RCV002523775] Chr9:2161733 [GRCh38]
Chr9:2161733 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.*537T>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV000336998] Chr9:2193276 [GRCh38]
Chr9:2193276 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.97C>T (p.Pro33Ser) single nucleotide variant Inborn genetic diseases [RCV002374607]|Nicolaides-Baraitser syndrome [RCV000263654]|SMARCA2-related condition [RCV003970078]|not provided [RCV001653759] Chr9:2029119 [GRCh38]
Chr9:2029119 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4029T>G (p.Leu1343=) single nucleotide variant Inborn genetic diseases [RCV002317872]|Nicolaides-Baraitser syndrome [RCV000338734]|not provided [RCV001575942] Chr9:2161733 [GRCh38]
Chr9:2161733 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.246C>T (p.Asp82=) single nucleotide variant Inborn genetic diseases [RCV002317871]|Nicolaides-Baraitser syndrome [RCV000339098]|Nicolaides-Baraitser syndrome [RCV002488827]|SMARCA2-related condition [RCV003950298]|not provided [RCV001672721] Chr9:2032972 [GRCh38]
Chr9:2032972 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.1746+10C>T single nucleotide variant Nicolaides-Baraitser syndrome [RCV000264590]|not provided [RCV002523773] Chr9:2070481 [GRCh38]
Chr9:2070481 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.3267G>A (p.Arg1089=) single nucleotide variant Inborn genetic diseases [RCV002323572]|Nicolaides-Baraitser syndrome [RCV000264929]|not provided [RCV001550678] Chr9:2104144 [GRCh38]
Chr9:2104144 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.*431G>A single nucleotide variant Nicolaides-Baraitser syndrome [RCV000298305] Chr9:2193170 [GRCh38]
Chr9:2193170 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000341867]|not provided [RCV001850937] Chr9:2186150 [GRCh38]
Chr9:2186150 [GRCh37]
Chr9:9p24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003070.5(SMARCA2):c.4725G>A (p.Glu1575=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000266025]|not provided [RCV003105887] Chr9:2191396 [GRCh38]
Chr9:2191396 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.2992-8G>A single nucleotide variant Nicolaides-Baraitser syndrome [RCV000300461]|not provided [RCV001613232] Chr9:2097377 [GRCh38]
Chr9:2097377 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3439G>A (p.Asp1147Asn) single nucleotide variant not provided [RCV000289588] Chr9:2110400 [GRCh38]
Chr9:2110400 [GRCh37]
Chr9:9p24.3		 pathogenic|conflicting interpretations of pathogenicity
NM_003070.5(SMARCA2):c.3650T>C (p.Leu1217Pro) single nucleotide variant not provided [RCV000346583] Chr9:2116015 [GRCh38]
Chr9:2116015 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.3441C>A (p.Asp1147Glu) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001270403] Chr9:2110402 [GRCh38]
Chr9:2110402 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.4663_4672del (p.Lys1555fs) deletion not provided [RCV003321219] Chr9:2191328..2191337 [GRCh38]
Chr9:2191328..2191337 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1235C>A (p.Ser412Tyr) single nucleotide variant not provided [RCV002286903] Chr9:2056733 [GRCh38]
Chr9:2056733 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2452C>T (p.Leu818=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000348485]|not provided [RCV002523774] Chr9:2084122 [GRCh38]
Chr9:2084122 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.*197A>G single nucleotide variant Nicolaides-Baraitser syndrome [RCV000294646] Chr9:2192936 [GRCh38]
Chr9:2192936 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4701G>A (p.Val1567=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000320099] Chr9:2191372 [GRCh38]
Chr9:2191372 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.*355dup duplication Nicolaides-Baraitser syndrome [RCV000405933] Chr9:2193089..2193090 [GRCh38]
Chr9:2193089..2193090 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3638G>C (p.Arg1213Pro) single nucleotide variant Adenoid cystic carcinoma [RCV000585737] Chr9:2116003 [GRCh38]
Chr9:2116003 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4738-9T>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV000323551]|not provided [RCV002523777] Chr9:2192695 [GRCh38]
Chr9:2192695 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.3562G>A (p.Ala1188Thr) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000408609] Chr9:2115927 [GRCh38]
Chr9:2115927 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.*5T>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV000287583] Chr9:2192744 [GRCh38]
Chr9:2192744 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.*694T>G single nucleotide variant Nicolaides-Baraitser syndrome [RCV000302000] Chr9:2193433 [GRCh38]
Chr9:2193433 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1540T>C (p.Tyr514His) single nucleotide variant not provided [RCV000523315] Chr9:2060834 [GRCh38]
Chr9:2060834 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.1450C>A (p.His484Asn) single nucleotide variant Intellectual disability [RCV001027726]|Severe intellectual deficiency [RCV000415226] Chr9:2058393 [GRCh38]
Chr9:2058393 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4364G>C (p.Arg1455Thr) single nucleotide variant not provided [RCV000415833] Chr9:2182145 [GRCh38]
Chr9:2182145 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.50C>T (p.Pro17Leu) single nucleotide variant not provided [RCV001546011] Chr9:2029072 [GRCh38]
Chr9:2029072 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.*670A>G single nucleotide variant Nicolaides-Baraitser syndrome [RCV001169735] Chr9:2193409 [GRCh38]
Chr9:2193409 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3849G>T (p.Trp1283Cys) single nucleotide variant not provided [RCV000413375] Chr9:2123805 [GRCh38]
Chr9:2123805 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys) single nucleotide variant Nicolaides-Baraitser syndrome [RCV002250622]|not provided [RCV000414296] Chr9:2115849 [GRCh38]
Chr9:2115849 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:1232387-4611862)x1 copy number loss See cases [RCV000446479] Chr9:1232387..4611862 [GRCh37]
Chr9:9p24.3-24.1		 likely pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152)x1 copy number loss See cases [RCV000447358] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1 copy number loss See cases [RCV000447144] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
NM_003070.5(SMARCA2):c.3386G>A (p.Gly1129Asp) single nucleotide variant not provided [RCV000442641] Chr9:2110347 [GRCh38]
Chr9:2110347 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
NM_003070.5(SMARCA2):c.3446A>G (p.Asn1149Ser) single nucleotide variant not provided [RCV000431579] Chr9:2110407 [GRCh38]
Chr9:2110407 [GRCh37]
Chr9:9p24.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
NM_003070.5(SMARCA2):c.1240G>A (p.Ala414Thr) single nucleotide variant Coffin-Siris syndrome 1 [RCV000678344]|not provided [RCV000522698] Chr9:2056738 [GRCh38]
Chr9:2056738 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2329C>G (p.Leu777Val) single nucleotide variant Intellectual disability, autosomal dominant [RCV000430772] Chr9:2081976 [GRCh38]
Chr9:2081976 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-24.2(chr9:213161-3497920)x1 copy number loss See cases [RCV000448791] Chr9:213161..3497920 [GRCh37]
Chr9:9p24.3-24.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732)x1 copy number loss See cases [RCV000448147] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)x1 copy number loss See cases [RCV000448304] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NM_003070.5(SMARCA2):c.3464A>C (p.Gln1155Pro) single nucleotide variant not provided [RCV000483415] Chr9:2115829 [GRCh38]
Chr9:2115829 [GRCh37]
Chr9:9p24.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
NM_003070.5(SMARCA2):c.2853G>C (p.Lys951Asn) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000501135] Chr9:2088583 [GRCh38]
Chr9:2088583 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.915C>G (p.Pro305=) single nucleotide variant not provided [RCV003727750]|not specified [RCV000501344] Chr9:2047353 [GRCh38]
Chr9:2047353 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.3192G>A (p.Ala1064=) single nucleotide variant not provided [RCV003886403]|not specified [RCV000503643] Chr9:2104069 [GRCh38]
Chr9:2104069 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.669GCA[14] (p.Gln238dup) microsatellite Inborn genetic diseases [RCV002311824]|not provided [RCV001572885]|not specified [RCV000503821] Chr9:2039776..2039777 [GRCh38]
Chr9:2039776..2039777 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.2648C>A (p.Pro883Gln) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000504162] Chr9:2086950 [GRCh38]
Chr9:2086950 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic
NM_003070.5(SMARCA2):c.669GCA[5] (p.Gln231_Gln238del) microsatellite Inborn genetic diseases [RCV002367693]|not specified [RCV000504347] Chr9:2039777..2039800 [GRCh38]
Chr9:2039777..2039800 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp) single nucleotide variant Intellectual disability [RCV001260785]|Nicolaides-Baraitser syndrome [RCV000502088] Chr9:2081995 [GRCh38]
Chr9:2081995 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.795G>A (p.Pro265=) single nucleotide variant not specified [RCV000502152] Chr9:2047233 [GRCh38]
Chr9:2047233 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln237_Gln238dup) microsatellite Inborn genetic diseases [RCV002311825]|not provided [RCV001559429]|not specified [RCV000502291] Chr9:2039776..2039777 [GRCh38]
Chr9:2039776..2039777 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.3236T>C (p.Met1079Thr) single nucleotide variant not provided [RCV000498196] Chr9:2104113 [GRCh38]
Chr9:2104113 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.2794A>T (p.Ile932Leu) single nucleotide variant not provided [RCV000493962] Chr9:2088524 [GRCh38]
Chr9:2088524 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3612T>G (p.Phe1204Leu) single nucleotide variant not provided [RCV000494188] Chr9:2115977 [GRCh38]
Chr9:2115977 [GRCh37]
Chr9:9p24.3		 likely pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1 copy number loss See cases [RCV000511432] Chr9:203861..13486759 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_003070.5(SMARCA2):c.3456G>C (p.Gln1152His) single nucleotide variant not provided [RCV000493320] Chr9:2110417 [GRCh38]
Chr9:2110417 [GRCh37]
Chr9:9p24.3		 likely pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10700288)x3 copy number gain See cases [RCV000510843] Chr9:203861..10700288 [GRCh37]
Chr9:9p24.3-23		 likely pathogenic
NM_003070.5(SMARCA2):c.4712A>G (p.Asp1571Gly) single nucleotide variant not provided [RCV003313420] Chr9:2191383 [GRCh38]
Chr9:2191383 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3283C>T (p.Arg1095Cys) single nucleotide variant not provided [RCV003313465] Chr9:2104160 [GRCh38]
Chr9:2104160 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.31C>A (p.Pro11Thr) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000626169] Chr9:2029053 [GRCh38]
Chr9:2029053 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
NM_003070.5(SMARCA2):c.3593T>G (p.Val1198Gly) single nucleotide variant Inborn genetic diseases [RCV000623090] Chr9:2115958 [GRCh38]
Chr9:2115958 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.2834T>G (p.Phe945Cys) single nucleotide variant not provided [RCV000523986] Chr9:2088564 [GRCh38]
Chr9:2088564 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.2326T>C (p.Tyr776His) single nucleotide variant Inborn genetic diseases [RCV000624763] Chr9:2081973 [GRCh38]
Chr9:2081973 [GRCh37]
Chr9:9p24.3		 likely pathogenic|uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-5081516)x1 copy number loss See cases [RCV000512311] Chr9:203861..5081516 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
NM_003070.5(SMARCA2):c.1586T>G (p.Leu529Arg) single nucleotide variant Inborn genetic diseases [RCV000622460] Chr9:2060880 [GRCh38]
Chr9:2060880 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_003070.5(SMARCA2):c.2737T>C (p.Phe913Leu) single nucleotide variant Inborn genetic diseases [RCV000623777] Chr9:2087039 [GRCh38]
Chr9:2087039 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.2733A>G (p.Gln911=) single nucleotide variant Inborn genetic diseases [RCV002314454]|Nicolaides-Baraitser syndrome [RCV001166427]|not provided [RCV001547148] Chr9:2087035 [GRCh38]
Chr9:2087035 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000680103]|SMARCA2-related BAFopathy [RCV001533099]|not provided [RCV001562725] Chr9:2081995 [GRCh38]
Chr9:2081995 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic|uncertain significance
NM_003070.5(SMARCA2):c.844G>A (p.Ala282Thr) single nucleotide variant Inborn genetic diseases [RCV002316075]|SMARCA2-related condition [RCV003938065]|not provided [RCV001672934] Chr9:2047282 [GRCh38]
Chr9:2047282 [GRCh37]
Chr9:9p24.3		 benign|likely benign|uncertain significance
NM_003070.5(SMARCA2):c.685_686insCGC (p.Gln228_Gln229insPro) insertion Inborn genetic diseases [RCV002314395]|not provided [RCV001592917]|not specified [RCV001529620] Chr9:2039793..2039794 [GRCh38]
Chr9:2039793..2039794 [GRCh37]
Chr9:9p24.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_003070.5(SMARCA2):c.2136G>A (p.Val712=) single nucleotide variant Inborn genetic diseases [RCV002316078]|not provided [RCV001692270] Chr9:2077728 [GRCh38]
Chr9:2077728 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.669GCA[6] (p.Gln232_Gln238del) microsatellite Inborn genetic diseases [RCV002312322]|not provided [RCV001575862] Chr9:2039777..2039797 [GRCh38]
Chr9:2039777..2039797 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1 copy number loss not provided [RCV000683162] Chr9:203861..7007586 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
NM_003070.5(SMARCA2):c.2184+5T>C single nucleotide variant Intellectual disability [RCV000681488] Chr9:2077781 [GRCh38]
Chr9:2077781 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3(chr9:2130392-2185324)x1 copy number loss not provided [RCV000683052] Chr9:2130392..2185324 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-4959039)x1 copy number loss not provided [RCV000683159] Chr9:203861..4959039 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1 copy number loss not provided [RCV000683166] Chr9:203861..9924905 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1 copy number loss not provided [RCV000683167] Chr9:203861..11271239 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1 copy number loss not provided [RCV000683164] Chr9:203861..9306658 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 copy number loss not provided [RCV000683168] Chr9:203861..14744606 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 copy number gain not provided [RCV000683170] Chr9:203861..20653468 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
NM_003070.5(SMARCA2):c.669GCA[17] (p.Gln235_Gln238dup) microsatellite Inborn genetic diseases [RCV002314562]|not provided [RCV001683642] Chr9:2039776..2039777 [GRCh38]
Chr9:2039776..2039777 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.669GCA[11] (p.Gln237_Gln238del) microsatellite Inborn genetic diseases [RCV002312367]|not provided [RCV003432749]|not specified [RCV002249437] Chr9:2039777..2039782 [GRCh38]
Chr9:2039777..2039782 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.3282A>G (p.Leu1094=) single nucleotide variant Inborn genetic diseases [RCV002314557]|not provided [RCV001692271] Chr9:2104159 [GRCh38]
Chr9:2104159 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.2805C>T (p.Ile935=) single nucleotide variant Inborn genetic diseases [RCV002313528] Chr9:2088535 [GRCh38]
Chr9:2088535 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.669GCA[9] (p.Gln235_Gln238del) microsatellite Inborn genetic diseases [RCV002313653]|not provided [RCV001662789] Chr9:2039777..2039788 [GRCh38]
Chr9:2039777..2039788 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity
NM_003070.5(SMARCA2):c.3555C>T (p.Leu1185=) single nucleotide variant Inborn genetic diseases [RCV002316037]|not provided [RCV001585666] Chr9:2115920 [GRCh38]
Chr9:2115920 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4731T>C (p.Asp1577=) single nucleotide variant Inborn genetic diseases [RCV002313606]|Nicolaides-Baraitser syndrome [RCV002485807]|not provided [RCV001613444] Chr9:2191402 [GRCh38]
Chr9:2191402 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.3843C>T (p.Pro1281=) single nucleotide variant Inborn genetic diseases [RCV002313499]|SMARCA2-related condition [RCV003918165]|not provided [RCV001575701] Chr9:2123799 [GRCh38]
Chr9:2123799 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.210G>A (p.Met70Ile) single nucleotide variant Inborn genetic diseases [RCV002315436]|SMARCA2-related condition [RCV003938078]|not provided [RCV001672941] Chr9:2029232 [GRCh38]
Chr9:2029232 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4200-4G>A single nucleotide variant Inborn genetic diseases [RCV002316061]|SMARCA2-related condition [RCV003945741]|not provided [RCV001672933] Chr9:2170415 [GRCh38]
Chr9:2170415 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.231C>T (p.Ile77=) single nucleotide variant Inborn genetic diseases [RCV002314598]|SMARCA2-related condition [RCV003980342]|not provided [RCV001683644] Chr9:2032957 [GRCh38]
Chr9:2032957 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.680A>C (p.Gln227Pro) single nucleotide variant Inborn genetic diseases [RCV002315403]|Nicolaides-Baraitser syndrome [RCV001169295]|Nicolaides-Baraitser syndrome [RCV002477660] Chr9:2039790 [GRCh38]
Chr9:2039790 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.887A>C (p.Gln296Pro) single nucleotide variant Inborn genetic diseases [RCV002315474]|Nicolaides-Baraitser syndrome [RCV002499314] Chr9:2047325 [GRCh38]
Chr9:2047325 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3882C>G (p.Leu1294=) single nucleotide variant Inborn genetic diseases [RCV002318783]|not provided [RCV003768146] Chr9:2123838 [GRCh38]
Chr9:2123838 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3796C>G (p.Arg1266Gly) single nucleotide variant Inborn genetic diseases [RCV002318107]|not provided [RCV003222118] Chr9:2123752 [GRCh38]
Chr9:2123752 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3963G>A (p.Thr1321=) single nucleotide variant Inborn genetic diseases [RCV002315465]|not provided [RCV002534577] Chr9:2123919 [GRCh38]
Chr9:2123919 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.744G>A (p.Thr248=) single nucleotide variant Inborn genetic diseases [RCV002318713] Chr9:2039854 [GRCh38]
Chr9:2039854 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.400G>A (p.Val134Ile) single nucleotide variant Inborn genetic diseases [RCV002318787] Chr9:2039510 [GRCh38]
Chr9:2039510 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1521+48G>A single nucleotide variant not provided [RCV001565778] Chr9:2058512 [GRCh38]
Chr9:2058512 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1232A>G (p.Asn411Ser) single nucleotide variant not provided [RCV001547530] Chr9:2056730 [GRCh38]
Chr9:2056730 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:46587-5486856)x1 copy number loss not provided [RCV000748059] Chr9:46587..5486856 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-12532584)x1 copy number loss not provided [RCV000748060] Chr9:46587..12532584 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1 copy number loss not provided [RCV000748061] Chr9:46587..13708607 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3(chr9:2143543-2151371)x0 copy number loss not provided [RCV000748097] Chr9:2143543..2151371 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3(chr9:2149063-2151371)x1 copy number loss not provided [RCV000748098] Chr9:2149063..2151371 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4199+47G>C single nucleotide variant not provided [RCV001640817] Chr9:2161950 [GRCh38]
Chr9:2161950 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2425G>C (p.Ala809Pro) single nucleotide variant not provided [RCV001532632] Chr9:2084095 [GRCh38]
Chr9:2084095 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2639C>A (p.Thr880Asn) single nucleotide variant Inborn genetic diseases [RCV002568210]|not provided [RCV001532633] Chr9:2086941 [GRCh38]
Chr9:2086941 [GRCh37]
Chr9:9p24.3		 likely pathogenic|uncertain significance
NM_003070.5(SMARCA2):c.3125+43G>T single nucleotide variant not provided [RCV001690164] Chr9:2101659 [GRCh38]
Chr9:2101659 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4594+165C>T single nucleotide variant not provided [RCV001571246] Chr9:2186393 [GRCh38]
Chr9:2186393 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2185-271C>T single nucleotide variant not provided [RCV001544587] Chr9:2081561 [GRCh38]
Chr9:2081561 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2554G>C (p.Glu852Gln) single nucleotide variant SMARCA2-related BAFopathy [RCV001533101] Chr9:2086856 [GRCh38]
Chr9:2086856 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.2564G>A (p.Arg855Gln) single nucleotide variant SMARCA2-related BAFopathy [RCV001533102]|not provided [RCV003332344] Chr9:2086866 [GRCh38]
Chr9:2086866 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.356-55T>C single nucleotide variant not provided [RCV001583479] Chr9:2039411 [GRCh38]
Chr9:2039411 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3981+203C>T single nucleotide variant not provided [RCV001709048] Chr9:2124140 [GRCh38]
Chr9:2124140 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2883+275_2883+281dup duplication not provided [RCV001647812] Chr9:2088879..2088880 [GRCh38]
Chr9:2088879..2088880 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4594+95C>A single nucleotide variant not provided [RCV001586221] Chr9:2186323 [GRCh38]
Chr9:2186323 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4360-79A>G single nucleotide variant Blepharophimosis-impaired intellectual development syndrome [RCV001544259]|Nicolaides-Baraitser syndrome [RCV001544260]|not provided [RCV001685492] Chr9:2182062 [GRCh38]
Chr9:2182062 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3126-53T>C single nucleotide variant not provided [RCV001666486] Chr9:2103950 [GRCh38]
Chr9:2103950 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.225+207C>A single nucleotide variant not provided [RCV001612858] Chr9:2029454 [GRCh38]
Chr9:2029454 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3457-79T>C single nucleotide variant not provided [RCV001681720] Chr9:2115743 [GRCh38]
Chr9:2115743 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.681G>A (p.Gln227=) single nucleotide variant Inborn genetic diseases [RCV002368567]|not provided [RCV001547789] Chr9:2039791 [GRCh38]
Chr9:2039791 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2883+37dup duplication not provided [RCV001574383] Chr9:2088640..2088641 [GRCh38]
Chr9:2088640..2088641 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3602C>A (p.Ala1201Glu) single nucleotide variant Neurodevelopmental disorder [RCV002276808]|not provided [RCV001574422] Chr9:2115967 [GRCh38]
Chr9:2115967 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic
NM_003070.5(SMARCA2):c.1173+299G>T single nucleotide variant not provided [RCV001567867] Chr9:2055022 [GRCh38]
Chr9:2055022 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3389G>A (p.Gly1130Asp) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000761461] Chr9:2110350 [GRCh38]
Chr9:2110350 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3981+235G>A single nucleotide variant not provided [RCV001576590] Chr9:2124172 [GRCh38]
Chr9:2124172 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4595-261_4595-254del deletion not provided [RCV001550506] Chr9:2191004..2191011 [GRCh38]
Chr9:2191004..2191011 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.929C>A (p.Pro310Gln) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000988136] Chr9:2047367 [GRCh38]
Chr9:2047367 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3292+24C>T single nucleotide variant not provided [RCV001645846] Chr9:2104193 [GRCh38]
Chr9:2104193 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.708_722del (p.Gln238_Gln242del) deletion not provided [RCV001584605] Chr9:2039812..2039826 [GRCh38]
Chr9:2039812..2039826 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2348+312GT[20] microsatellite not provided [RCV001569857] Chr9:2082307..2082310 [GRCh38]
Chr9:2082307..2082310 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4737+18G>A single nucleotide variant not provided [RCV001680154] Chr9:2191426 [GRCh38]
Chr9:2191426 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1347+16_1347+17insT insertion Blepharophimosis-impaired intellectual development syndrome [RCV001544256]|Nicolaides-Baraitser syndrome [RCV001544257]|not provided [RCV001713014] Chr9:2056861..2056862 [GRCh38]
Chr9:2056861..2056862 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2883+90A>C single nucleotide variant not provided [RCV001680495] Chr9:2088703 [GRCh38]
Chr9:2088703 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1521+55A>G single nucleotide variant not provided [RCV001581372] Chr9:2058519 [GRCh38]
Chr9:2058519 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2036+217T>C single nucleotide variant not provided [RCV001546733] Chr9:2076546 [GRCh38]
Chr9:2076546 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.669GCA[18] (p.Gln234_Gln238dup) microsatellite Inborn genetic diseases [RCV002368603]|not provided [RCV001577768] Chr9:2039776..2039777 [GRCh38]
Chr9:2039776..2039777 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4462-312A>G single nucleotide variant not provided [RCV001546973] Chr9:2185784 [GRCh38]
Chr9:2185784 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1878-27C>T single nucleotide variant not provided [RCV001577933] Chr9:2073539 [GRCh38]
Chr9:2073539 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1173+130G>C single nucleotide variant not provided [RCV001552297] Chr9:2054853 [GRCh38]
Chr9:2054853 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1522-231G>A single nucleotide variant not provided [RCV001724560] Chr9:2060585 [GRCh38]
Chr9:2060585 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2883+27G>T single nucleotide variant not provided [RCV001575893] Chr9:2088640 [GRCh38]
Chr9:2088640 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2349-10del deletion SMARCA2-related condition [RCV003975980]|not provided [RCV001690540] Chr9:2083326 [GRCh38]
Chr9:2083326 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.*765T>G single nucleotide variant Nicolaides-Baraitser syndrome [RCV001165746] Chr9:2193504 [GRCh38]
Chr9:2193504 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4738-281del deletion not provided [RCV001568714] Chr9:2192419 [GRCh38]
Chr9:2192419 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4275A>G (p.Glu1425=) single nucleotide variant not provided [RCV000999123] Chr9:2181592 [GRCh38]
Chr9:2181592 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.693G>A (p.Gln231=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001166356] Chr9:2039803 [GRCh38]
Chr9:2039803 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.699G>A (p.Gln233=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001166357] Chr9:2039809 [GRCh38]
Chr9:2039809 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1188G>T (p.Val396=) single nucleotide variant not provided [RCV001690200] Chr9:2056686 [GRCh38]
Chr9:2056686 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3274C>G (p.Leu1092Val) single nucleotide variant not provided [RCV001568794] Chr9:2104151 [GRCh38]
Chr9:2104151 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4738-316dup duplication not provided [RCV001645647] Chr9:2192379..2192380 [GRCh38]
Chr9:2192379..2192380 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2361C>A (p.Asn787Lys) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000856761]|SMARCA2-related BAFopathy [RCV001533100] Chr9:2083359 [GRCh38]
Chr9:2083359 [GRCh37]
Chr9:9p24.3		 pathogenic|uncertain significance
NM_003070.5(SMARCA2):c.196C>G (p.Pro66Ala) single nucleotide variant not provided [RCV002284734] Chr9:2029218 [GRCh38]
Chr9:2029218 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1 copy number loss not provided [RCV001006165] Chr9:203861..14103730 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1 copy number loss not provided [RCV001006166] Chr9:203861..14080419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_003070.5(SMARCA2):c.791-6C>T single nucleotide variant not provided [RCV000840096] Chr9:2047223 [GRCh38]
Chr9:2047223 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1573C>T (p.Arg525Cys) single nucleotide variant Blepharophimosis-impaired intellectual development syndrome [RCV001375920]|Intellectual disability [RCV001029745]|not provided [RCV001683727] Chr9:2060867 [GRCh38]
Chr9:2060867 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic
NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln) single nucleotide variant Blepharophimosis-impaired intellectual development syndrome [RCV001375918]|Inborn genetic diseases [RCV001266425]|Intellectual disability [RCV001029747]|not provided [RCV001559851] Chr9:2058457 [GRCh38]
Chr9:2058457 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 copy number gain not provided [RCV000845664] Chr9:203861..19448473 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1 copy number loss not provided [RCV000848063] Chr9:203861..11033228 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-24.2(chr9:203861-2978707)x1 copy number loss not provided [RCV000849761] Chr9:203861..2978707 [GRCh37]
Chr9:9p24.3-24.2		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_003070.5(SMARCA2):c.*204G>A single nucleotide variant Nicolaides-Baraitser syndrome [RCV001167856] Chr9:2192943 [GRCh38]
Chr9:2192943 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.876C>T (p.Pro292=) single nucleotide variant Inborn genetic diseases [RCV002375047]|Nicolaides-Baraitser syndrome [RCV001166880]|not provided [RCV001555783] Chr9:2047314 [GRCh38]
Chr9:2047314 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.890C>A (p.Pro297Gln) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001166881]|not provided [RCV003718377] Chr9:2047328 [GRCh38]
Chr9:2047328 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.459G>A (p.Pro153=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001168538]|not provided [RCV001619892] Chr9:2039569 [GRCh38]
Chr9:2039569 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.*307C>T single nucleotide variant Nicolaides-Baraitser syndrome [RCV001167858] Chr9:2193046 [GRCh38]
Chr9:2193046 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1 copy number loss not provided [RCV000848089] Chr9:203861..11028975 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_003070.5(SMARCA2):c.4479C>T (p.Ile1493=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001168730]|not provided [RCV001532634] Chr9:2186113 [GRCh38]
Chr9:2186113 [GRCh37]
Chr9:9p24.3		 benign|likely benign
Single allele deletion Internal malformations [RCV000787469] Chr9:2074076..2381053 [GRCh37]
Chr9:9p24.3-24.2		 uncertain significance
NM_003070.5(SMARCA2):c.1883A>C (p.Glu628Ala) single nucleotide variant not provided [RCV003239139] Chr9:2073571 [GRCh38]
Chr9:2073571 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4247G>C (p.Gly1416Ala) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001169435]|not provided [RCV002557464] Chr9:2170466 [GRCh38]
Chr9:2170466 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.689A>C (p.Gln230Pro) single nucleotide variant Inborn genetic diseases [RCV002365815]|Nicolaides-Baraitser syndrome [RCV001166355]|not provided [RCV001673025] Chr9:2039799 [GRCh38]
Chr9:2039799 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.2527-3T>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV001166426]|not provided [RCV002558627] Chr9:2086826 [GRCh38]
Chr9:2086826 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.*192G>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV001167855] Chr9:2192931 [GRCh38]
Chr9:2192931 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.*587T>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV001169734] Chr9:2193326 [GRCh38]
Chr9:2193326 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.750A>T (p.Gln250His) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001166879]|not provided [RCV003433071] Chr9:2039860 [GRCh38]
Chr9:2039860 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.961C>T (p.Leu321=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001166883] Chr9:2047399 [GRCh38]
Chr9:2047399 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3216C>T (p.Phe1072=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001166954] Chr9:2104093 [GRCh38]
Chr9:2104093 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.399C>T (p.His133=) single nucleotide variant Inborn genetic diseases [RCV002375048]|Nicolaides-Baraitser syndrome [RCV001168537] Chr9:2039509 [GRCh38]
Chr9:2039509 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.1812G>A (p.Lys604=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001168599] Chr9:2073277 [GRCh38]
Chr9:2073277 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.473del (p.Pro158fs) deletion not provided [RCV001008608] Chr9:2039581 [GRCh38]
Chr9:2039581 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.*101A>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV001167274] Chr9:2192840 [GRCh38]
Chr9:2192840 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-24.2(chr9:2180509-3128422)x3 copy number gain not provided [RCV000846846] Chr9:2180509..3128422 [GRCh37]
Chr9:9p24.3-24.2		 uncertain significance
NM_003070.5(SMARCA2):c.597C>T (p.Pro199=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001169294] Chr9:2039707 [GRCh38]
Chr9:2039707 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3314G>T (p.Arg1105Leu) single nucleotide variant SMARCA2-related condition [RCV003962982]|not provided [RCV000999120] Chr9:2110275 [GRCh38]
Chr9:2110275 [GRCh37]
Chr9:9p24.3		 likely pathogenic|uncertain significance
NM_003070.5(SMARCA2):c.3379A>G (p.Arg1127Gly) single nucleotide variant not provided [RCV000999121] Chr9:2110340 [GRCh38]
Chr9:2110340 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1585C>G (p.Leu529Val) single nucleotide variant Intellectual disability [RCV001029744]|Nicolaides-Baraitser syndrome [RCV001261962] Chr9:2060879 [GRCh38]
Chr9:2060879 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1 copy number loss not provided [RCV001006163] Chr9:203861..17789410 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1 copy number loss not provided [RCV001006164] Chr9:203861..10666419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_003070.5(SMARCA2):c.3729T>A (p.Ile1243=) single nucleotide variant not provided [RCV000999122] Chr9:2119502 [GRCh38]
Chr9:2119502 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4508G>A (p.Arg1503Gln) single nucleotide variant not provided [RCV000999124] Chr9:2186142 [GRCh38]
Chr9:2186142 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1279C>T (p.Arg427Cys) single nucleotide variant not provided [RCV001172003] Chr9:2056777 [GRCh38]
Chr9:2056777 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1325G>A (p.Arg442Lys) single nucleotide variant not provided [RCV000999118] Chr9:2056823 [GRCh38]
Chr9:2056823 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.*782G>A single nucleotide variant Nicolaides-Baraitser syndrome [RCV001165747] Chr9:2193521 [GRCh38]
Chr9:2193521 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.105A>G (p.Pro35=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001168535] Chr9:2029127 [GRCh38]
Chr9:2029127 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3768G>A (p.Met1256Ile) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001166956] Chr9:2123724 [GRCh38]
Chr9:2123724 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4045C>T (p.Arg1349Ter) single nucleotide variant Autism spectrum disorder [RCV003127246] Chr9:2161749 [GRCh38]
Chr9:2161749 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4216G>A (p.Val1406Met) single nucleotide variant Nicolaides-Baraitser syndrome [RCV003233290] Chr9:2170435 [GRCh38]
Chr9:2170435 [GRCh37]
Chr9:9p24.3		 not provided
NM_003070.5(SMARCA2):c.4151C>T (p.Thr1384Ile) single nucleotide variant Inborn genetic diseases [RCV003291291] Chr9:2161855 [GRCh38]
Chr9:2161855 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2883+270_2883+281dup duplication not provided [RCV001641980] Chr9:2088879..2088880 [GRCh38]
Chr9:2088879..2088880 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2348+312GT[23] microsatellite not provided [RCV001571479] Chr9:2082306..2082307 [GRCh38]
Chr9:2082306..2082307 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4254-319_4254-317dup duplication not provided [RCV001564135] Chr9:2181249..2181250 [GRCh38]
Chr9:2181249..2181250 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3457-319T>C single nucleotide variant not provided [RCV001564309] Chr9:2115503 [GRCh38]
Chr9:2115503 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1522-19G>A single nucleotide variant not provided [RCV001544998] Chr9:2060797 [GRCh38]
Chr9:2060797 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.3292+99T>C single nucleotide variant not provided [RCV001569426] Chr9:2104268 [GRCh38]
Chr9:2104268 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3957C>T (p.Ala1319=) single nucleotide variant not provided [RCV003107170] Chr9:2123913 [GRCh38]
Chr9:2123913 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2184+45A>G single nucleotide variant not provided [RCV001551576] Chr9:2077821 [GRCh38]
Chr9:2077821 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2185-234C>G single nucleotide variant not provided [RCV001551577] Chr9:2081598 [GRCh38]
Chr9:2081598 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3879G>T (p.Arg1293Ser) single nucleotide variant SMARCA2-related condition [RCV003393151] Chr9:2123835 [GRCh38]
Chr9:2123835 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.686_715del (p.Gln229_Gln238del) deletion not provided [RCV003318201] Chr9:2039789..2039818 [GRCh38]
Chr9:2039789..2039818 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2348+311_2348+312dup duplication not provided [RCV001680766] Chr9:2082305..2082306 [GRCh38]
Chr9:2082305..2082306 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.704A>C (p.Gln235Pro) single nucleotide variant not provided [RCV001588792] Chr9:2039814 [GRCh38]
Chr9:2039814 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2348+31G>A single nucleotide variant not provided [RCV001616873] Chr9:2082026 [GRCh38]
Chr9:2082026 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4253+135G>A single nucleotide variant not provided [RCV001590403] Chr9:2170607 [GRCh38]
Chr9:2170607 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2416-331A>G single nucleotide variant not provided [RCV001708526] Chr9:2083755 [GRCh38]
Chr9:2083755 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4199+41G>C single nucleotide variant not provided [RCV001608320] Chr9:2161944 [GRCh38]
Chr9:2161944 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4461+195T>C single nucleotide variant not provided [RCV001533836] Chr9:2182437 [GRCh38]
Chr9:2182437 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1747-11C>A single nucleotide variant not provided [RCV001555567] Chr9:2073201 [GRCh38]
Chr9:2073201 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1510C>A (p.Arg504=) single nucleotide variant SMARCA2-related condition [RCV003976084]|not provided [RCV001720377] Chr9:2058453 [GRCh38]
Chr9:2058453 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.2526+175TG[24] microsatellite not provided [RCV001648287] Chr9:2084370..2084371 [GRCh38]
Chr9:2084370..2084371 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1174-122T>C single nucleotide variant not provided [RCV001561155] Chr9:2056550 [GRCh38]
Chr9:2056550 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1046+45C>T single nucleotide variant not provided [RCV001639094] Chr9:2047529 [GRCh38]
Chr9:2047529 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2883+37T>C single nucleotide variant not provided [RCV001598860] Chr9:2088650 [GRCh38]
Chr9:2088650 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4595-77G>T single nucleotide variant not provided [RCV001638340] Chr9:2191189 [GRCh38]
Chr9:2191189 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1522-48T>C single nucleotide variant not provided [RCV001535044] Chr9:2060768 [GRCh38]
Chr9:2060768 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1347+191A>C single nucleotide variant not provided [RCV001681400] Chr9:2057036 [GRCh38]
Chr9:2057036 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1348-113C>G single nucleotide variant not provided [RCV001561768] Chr9:2058178 [GRCh38]
Chr9:2058178 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1676GGA[3] (p.Arg562del) microsatellite not provided [RCV001592177] Chr9:2060968..2060970 [GRCh38]
Chr9:2060968..2060970 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2416-143C>G single nucleotide variant not provided [RCV001593975] Chr9:2083943 [GRCh38]
Chr9:2083943 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1521+44G>A single nucleotide variant not provided [RCV001689086] Chr9:2058508 [GRCh38]
Chr9:2058508 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1878-52A>T single nucleotide variant not provided [RCV001639434] Chr9:2073514 [GRCh38]
Chr9:2073514 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.356-220del deletion not provided [RCV001689189] Chr9:2039234 [GRCh38]
Chr9:2039234 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.225+28C>G single nucleotide variant not provided [RCV001682241] Chr9:2029275 [GRCh38]
Chr9:2029275 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3763-58G>A single nucleotide variant not provided [RCV001709919] Chr9:2123661 [GRCh38]
Chr9:2123661 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.51G>C (p.Pro17=) single nucleotide variant Inborn genetic diseases [RCV002334638]|not provided [RCV001651824] Chr9:2029073 [GRCh38]
Chr9:2029073 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.3762+73C>G single nucleotide variant not provided [RCV001691455] Chr9:2119608 [GRCh38]
Chr9:2119608 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.226-234AAAC[8] microsatellite not provided [RCV001557271] Chr9:2032717..2032718 [GRCh38]
Chr9:2032717..2032718 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1664AGA[3] (p.Lys558del) microsatellite not provided [RCV001562687] Chr9:2060958..2060960 [GRCh38]
Chr9:2060958..2060960 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3078+114C>T single nucleotide variant not provided [RCV001713869] Chr9:2097585 [GRCh38]
Chr9:2097585 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4254-18G>C single nucleotide variant not provided [RCV001691665] Chr9:2181553 [GRCh38]
Chr9:2181553 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3126-285T>C single nucleotide variant not provided [RCV001562909] Chr9:2103718 [GRCh38]
Chr9:2103718 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3125+47T>A single nucleotide variant not provided [RCV001716392] Chr9:2101663 [GRCh38]
Chr9:2101663 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3684+24A>T single nucleotide variant not provided [RCV001571733] Chr9:2116073 [GRCh38]
Chr9:2116073 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.225+145G>A single nucleotide variant not provided [RCV001544686] Chr9:2029392 [GRCh38]
Chr9:2029392 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1747-86C>G single nucleotide variant not provided [RCV001649714] Chr9:2073126 [GRCh38]
Chr9:2073126 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4360-14A>T single nucleotide variant not provided [RCV001665263] Chr9:2182127 [GRCh38]
Chr9:2182127 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2349-22G>T single nucleotide variant not provided [RCV001643944] Chr9:2083325 [GRCh38]
Chr9:2083325 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1625A>G (p.Asn542Ser) single nucleotide variant not provided [RCV001587511] Chr9:2060919 [GRCh38]
Chr9:2060919 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4595-182C>G single nucleotide variant not provided [RCV001589821] Chr9:2191084 [GRCh38]
Chr9:2191084 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3763-196A>G single nucleotide variant not provided [RCV001724479] Chr9:2123523 [GRCh38]
Chr9:2123523 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.226-123T>C single nucleotide variant not provided [RCV001578210] Chr9:2032829 [GRCh38]
Chr9:2032829 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2526+175TG[25] microsatellite not provided [RCV001683783] Chr9:2084370..2084371 [GRCh38]
Chr9:2084370..2084371 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4253+53C>T single nucleotide variant not provided [RCV001621001] Chr9:2170525 [GRCh38]
Chr9:2170525 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4360-16C>G single nucleotide variant not provided [RCV001589900] Chr9:2182125 [GRCh38]
Chr9:2182125 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.1747-48G>C single nucleotide variant not provided [RCV001680513] Chr9:2073164 [GRCh38]
Chr9:2073164 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4359+126G>A single nucleotide variant not provided [RCV001566639] Chr9:2181802 [GRCh38]
Chr9:2181802 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1935+35T>G single nucleotide variant not provided [RCV001656877] Chr9:2073658 [GRCh38]
Chr9:2073658 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3292+256T>G single nucleotide variant not provided [RCV001654927] Chr9:2104425 [GRCh38]
Chr9:2104425 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4738-28C>G single nucleotide variant not provided [RCV001696591] Chr9:2192676 [GRCh38]
Chr9:2192676 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.-36-230T>G single nucleotide variant not provided [RCV001609904] Chr9:2028757 [GRCh38]
Chr9:2028757 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.790+45G>A single nucleotide variant not provided [RCV001674987] Chr9:2039945 [GRCh38]
Chr9:2039945 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.-36-45A>G single nucleotide variant not provided [RCV001650461] Chr9:2028942 [GRCh38]
Chr9:2028942 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4738-299A>G single nucleotide variant not provided [RCV001541853] Chr9:2192405 [GRCh38]
Chr9:2192405 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4461+204G>A single nucleotide variant not provided [RCV001574470] Chr9:2182446 [GRCh38]
Chr9:2182446 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2082T>G (p.Ser694Arg) single nucleotide variant not provided [RCV001786575] Chr9:2077674 [GRCh38]
Chr9:2077674 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4200-57G>A single nucleotide variant not provided [RCV001537346] Chr9:2170362 [GRCh38]
Chr9:2170362 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4646G>A (p.Arg1549Gln) single nucleotide variant Inborn genetic diseases [RCV002558690]|Nicolaides-Baraitser syndrome [RCV001169660]|not provided [RCV001565426] Chr9:2191317 [GRCh38]
Chr9:2191317 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4673C>G (p.Pro1558Arg) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001169661] Chr9:2191344 [GRCh38]
Chr9:2191344 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.957C>G (p.Leu319=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001166882] Chr9:2047395 [GRCh38]
Chr9:2047395 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.990C>T (p.Pro330=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001166884] Chr9:2047428 [GRCh38]
Chr9:2047428 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3633C>T (p.His1211=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001166955] Chr9:2115998 [GRCh38]
Chr9:2115998 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.*80T>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV001167273] Chr9:2192819 [GRCh38]
Chr9:2192819 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2526+175TG[17] microsatellite not provided [RCV001539602] Chr9:2084371..2084382 [GRCh38]
Chr9:2084371..2084382 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.919G>A (p.Val307Met) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001198371] Chr9:2047357 [GRCh38]
Chr9:2047357 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1408G>T (p.Ala470Ser) single nucleotide variant not provided [RCV000999119] Chr9:2058351 [GRCh38]
Chr9:2058351 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.695_715del (p.Gln232_Gln238del) deletion not provided [RCV001540249] Chr9:2039798..2039818 [GRCh38]
Chr9:2039798..2039818 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4500G>C (p.Lys1500Asn) single nucleotide variant not provided [RCV002613482] Chr9:2186134 [GRCh38]
Chr9:2186134 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.716C>T (p.Pro239Leu) single nucleotide variant Inborn genetic diseases [RCV002370252]|not provided [RCV001656682] Chr9:2039826 [GRCh38]
Chr9:2039826 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.791-134_791-133del deletion not provided [RCV001545442] Chr9:2047084..2047085 [GRCh38]
Chr9:2047084..2047085 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4359+46G>A single nucleotide variant not provided [RCV001732257] Chr9:2181722 [GRCh38]
Chr9:2181722 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4200-131_4200-130insCTT insertion not provided [RCV001557311] Chr9:2170287..2170288 [GRCh38]
Chr9:2170287..2170288 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2883+107G>C single nucleotide variant not provided [RCV001557773] Chr9:2088720 [GRCh38]
Chr9:2088720 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3587A>C (p.Gln1196Pro) single nucleotide variant Nicolaides-Baraitser syndrome [RCV000988137] Chr9:2115952 [GRCh38]
Chr9:2115952 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.4253+40G>C single nucleotide variant Blepharophimosis-impaired intellectual development syndrome [RCV001544258]|Nicolaides-Baraitser syndrome [RCV000988138]|not provided [RCV001672990] Chr9:2170512 [GRCh38]
Chr9:2170512 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.-36-205T>C single nucleotide variant not provided [RCV001552064] Chr9:2028782 [GRCh38]
Chr9:2028782 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1173+274T>C single nucleotide variant not provided [RCV001558714] Chr9:2054997 [GRCh38]
Chr9:2054997 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1348-150G>C single nucleotide variant not provided [RCV001559042] Chr9:2058141 [GRCh38]
Chr9:2058141 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4286A>G (p.Gln1429Arg) single nucleotide variant not provided [RCV003237185] Chr9:2181603 [GRCh38]
Chr9:2181603 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2036+64T>C single nucleotide variant not provided [RCV001559662] Chr9:2076393 [GRCh38]
Chr9:2076393 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.356-220dup duplication not provided [RCV001553446] Chr9:2039233..2039234 [GRCh38]
Chr9:2039233..2039234 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1201C>T (p.Arg401Cys) single nucleotide variant Inborn genetic diseases [RCV002343737]|not provided [RCV001560821] Chr9:2056699 [GRCh38]
Chr9:2056699 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.3670G>A (p.Glu1224Lys) single nucleotide variant Nicolaides-Baraitser syndrome [RCV003234876] Chr9:2116035 [GRCh38]
Chr9:2116035 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3292+35C>G single nucleotide variant not provided [RCV001561208] Chr9:2104204 [GRCh38]
Chr9:2104204 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2526+52T>G single nucleotide variant not provided [RCV001561307] Chr9:2084248 [GRCh38]
Chr9:2084248 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4594+152G>T single nucleotide variant not provided [RCV001556370] Chr9:2186380 [GRCh38]
Chr9:2186380 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3140G>A (p.Arg1047Gln) single nucleotide variant not provided [RCV002464894] Chr9:2104017 [GRCh38]
Chr9:2104017 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2966C>G (p.Thr989Arg) single nucleotide variant Nicolaides-Baraitser syndrome [RCV002471840] Chr9:2096739 [GRCh38]
Chr9:2096739 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.4595-22A>G single nucleotide variant not provided [RCV001530780] Chr9:2191244 [GRCh38]
Chr9:2191244 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.226-107G>A single nucleotide variant not provided [RCV001617973] Chr9:2032845 [GRCh38]
Chr9:2032845 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.902C>T (p.Ala301Val) single nucleotide variant not provided [RCV001659082] Chr9:2047340 [GRCh38]
Chr9:2047340 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.704_705insACAACAGCAGCC (p.236QQQP[3]) insertion not provided [RCV001659110] Chr9:2039814..2039815 [GRCh38]
Chr9:2039814..2039815 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2348+312GT[21] microsatellite not provided [RCV001596710] Chr9:2082307..2082308 [GRCh38]
Chr9:2082307..2082308 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3126-225A>C single nucleotide variant not provided [RCV001688268] Chr9:2103778 [GRCh38]
Chr9:2103778 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3079-139C>T single nucleotide variant not provided [RCV001536214] Chr9:2101431 [GRCh38]
Chr9:2101431 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1047-32C>T single nucleotide variant not provided [RCV001688189] Chr9:2054565 [GRCh38]
Chr9:2054565 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2185-44C>G single nucleotide variant not provided [RCV001619700] Chr9:2081788 [GRCh38]
Chr9:2081788 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.791-133dup duplication not provided [RCV001675298] Chr9:2047083..2047084 [GRCh38]
Chr9:2047083..2047084 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2526+175TG[18] microsatellite not provided [RCV001672367] Chr9:2084371..2084380 [GRCh38]
Chr9:2084371..2084380 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.791-133del deletion not provided [RCV001714896] Chr9:2047084 [GRCh38]
Chr9:2047084 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4594+102_4594+103insT insertion not provided [RCV001639367] Chr9:2186330..2186331 [GRCh38]
Chr9:2186330..2186331 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.790+83A>C single nucleotide variant not provided [RCV001686118] Chr9:2039983 [GRCh38]
Chr9:2039983 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3078+82A>T single nucleotide variant not provided [RCV001676246] Chr9:2097553 [GRCh38]
Chr9:2097553 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1521+21G>A single nucleotide variant not provided [RCV001673286] Chr9:2058485 [GRCh38]
Chr9:2058485 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3763-34T>G single nucleotide variant not provided [RCV001678441] Chr9:2123685 [GRCh38]
Chr9:2123685 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1080A>G (p.Glu360=) single nucleotide variant Inborn genetic diseases [RCV002421239]|SMARCA2-related condition [RCV003975900]|not provided [RCV001677948] Chr9:2054630 [GRCh38]
Chr9:2054630 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.1574G>A (p.Arg525His) single nucleotide variant Blepharophimosis-impaired intellectual development syndrome [RCV001375919]|Intellectual disability [RCV001029748]|not provided [RCV002462259] Chr9:2060868 [GRCh38]
Chr9:2060868 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic
NM_003070.5(SMARCA2):c.3981+22C>T single nucleotide variant not provided [RCV001673557] Chr9:2123959 [GRCh38]
Chr9:2123959 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1046+275G>C single nucleotide variant not provided [RCV001620429] Chr9:2047759 [GRCh38]
Chr9:2047759 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3078+89C>A single nucleotide variant not provided [RCV001595966] Chr9:2097560 [GRCh38]
Chr9:2097560 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4737+317C>T single nucleotide variant not provided [RCV001656790] Chr9:2191725 [GRCh38]
Chr9:2191725 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1347+206dup duplication not provided [RCV001575405] Chr9:2057049..2057050 [GRCh38]
Chr9:2057049..2057050 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2526+214_2526+215insGGTGTG microsatellite not provided [RCV001590794] Chr9:2084405..2084406 [GRCh38]
Chr9:2084405..2084406 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3191C>T (p.Ala1064Val) single nucleotide variant Inborn genetic diseases [RCV002538549]|not provided [RCV001658846] Chr9:2104068 [GRCh38]
Chr9:2104068 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4462-122A>C single nucleotide variant not provided [RCV001594789] Chr9:2185974 [GRCh38]
Chr9:2185974 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3292+25G>A single nucleotide variant not provided [RCV001656346] Chr9:2104194 [GRCh38]
Chr9:2104194 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1047-35C>A single nucleotide variant not provided [RCV001720408] Chr9:2054562 [GRCh38]
Chr9:2054562 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4200-47G>A single nucleotide variant not provided [RCV001638451] Chr9:2170372 [GRCh38]
Chr9:2170372 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.226-234AAAC[7] microsatellite not provided [RCV001588685] Chr9:2032717..2032718 [GRCh38]
Chr9:2032717..2032718 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4103G>A (p.Arg1368Lys) single nucleotide variant not provided [RCV001092989] Chr9:2161807 [GRCh38]
Chr9:2161807 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.*489A>G single nucleotide variant Nicolaides-Baraitser syndrome [RCV001167859] Chr9:2193228 [GRCh38]
Chr9:2193228 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2037-4C>A single nucleotide variant Nicolaides-Baraitser syndrome [RCV001169362]|not provided [RCV002559625] Chr9:2077625 [GRCh38]
Chr9:2077625 [GRCh37]
Chr9:9p24.3		 benign|uncertain significance
NM_003070.5(SMARCA2):c.4206C>T (p.Asn1402=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001169434]|not provided [RCV003727939] Chr9:2170425 [GRCh38]
Chr9:2170425 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2184+99T>C single nucleotide variant not provided [RCV001708283] Chr9:2077875 [GRCh38]
Chr9:2077875 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3078+65dup duplication not provided [RCV001585198] Chr9:2097527..2097528 [GRCh38]
Chr9:2097527..2097528 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.226-20A>G single nucleotide variant not provided [RCV001650040] Chr9:2032932 [GRCh38]
Chr9:2032932 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.666_686del (p.Gln232_Gln238del) deletion Inborn genetic diseases [RCV002368608]|not provided [RCV001589331] Chr9:2039765..2039785 [GRCh38]
Chr9:2039765..2039785 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3078+88del deletion not provided [RCV001695896] Chr9:2097549 [GRCh38]
Chr9:2097549 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4595-33C>T single nucleotide variant not provided [RCV001611921] Chr9:2191233 [GRCh38]
Chr9:2191233 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2526+175TG[21] microsatellite not provided [RCV001681777] Chr9:2084371..2084374 [GRCh38]
Chr9:2084371..2084374 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.483G>A (p.Pro161=) single nucleotide variant not provided [RCV001694802] Chr9:2039593 [GRCh38]
Chr9:2039593 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3684+341G>A single nucleotide variant not provided [RCV001724553] Chr9:2116390 [GRCh38]
Chr9:2116390 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1983C>A (p.Leu661=) single nucleotide variant not provided [RCV001680792] Chr9:2076276 [GRCh38]
Chr9:2076276 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.3293-45T>C single nucleotide variant not provided [RCV001649940] Chr9:2110209 [GRCh38]
Chr9:2110209 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3982-24G>A single nucleotide variant not provided [RCV001588697] Chr9:2161662 [GRCh38]
Chr9:2161662 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4595-20T>C single nucleotide variant not provided [RCV001695100] Chr9:2191246 [GRCh38]
Chr9:2191246 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2883+271_2883+281dup duplication not provided [RCV001590458] Chr9:2088879..2088880 [GRCh38]
Chr9:2088879..2088880 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4594+80_4594+98del deletion not provided [RCV001693379] Chr9:2186305..2186323 [GRCh38]
Chr9:2186305..2186323 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3456+164A>G single nucleotide variant not provided [RCV001710638] Chr9:2110581 [GRCh38]
Chr9:2110581 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4199+46C>T single nucleotide variant Blepharophimosis-impaired intellectual development syndrome [RCV001810126]|Nicolaides-Baraitser syndrome [RCV001810125]|not provided [RCV001616073] Chr9:2161949 [GRCh38]
Chr9:2161949 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1266T>A (p.Thr422=) single nucleotide variant Inborn genetic diseases [RCV002370248]|not provided [RCV001611359] Chr9:2056764 [GRCh38]
Chr9:2056764 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.355+101A>C single nucleotide variant not provided [RCV001648977] Chr9:2033182 [GRCh38]
Chr9:2033182 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2992-74G>A single nucleotide variant not provided [RCV001612013] Chr9:2097311 [GRCh38]
Chr9:2097311 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2526+175TG[22] microsatellite not provided [RCV001696288] Chr9:2084371..2084372 [GRCh38]
Chr9:2084371..2084372 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1878-30C>T single nucleotide variant not provided [RCV001666075] Chr9:2073536 [GRCh38]
Chr9:2073536 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1935+216C>T single nucleotide variant not provided [RCV001724577] Chr9:2073839 [GRCh38]
Chr9:2073839 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1348-158T>C single nucleotide variant not provided [RCV001724585] Chr9:2058133 [GRCh38]
Chr9:2058133 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3763-48C>A single nucleotide variant not provided [RCV001679864] Chr9:2123671 [GRCh38]
Chr9:2123671 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3763-284G>A single nucleotide variant not provided [RCV001645930] Chr9:2123435 [GRCh38]
Chr9:2123435 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3126-17C>T single nucleotide variant not provided [RCV001662868] Chr9:2103986 [GRCh38]
Chr9:2103986 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4359+98G>C single nucleotide variant not provided [RCV001695608] Chr9:2181774 [GRCh38]
Chr9:2181774 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2348+312GT[19] microsatellite not provided [RCV001585550] Chr9:2082307..2082312 [GRCh38]
Chr9:2082307..2082312 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4200-134G>A single nucleotide variant not provided [RCV001616365] Chr9:2170285 [GRCh38]
Chr9:2170285 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3763-47C>A single nucleotide variant not provided [RCV001691463] Chr9:2123672 [GRCh38]
Chr9:2123672 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2527-25G>A single nucleotide variant not provided [RCV001666348] Chr9:2086804 [GRCh38]
Chr9:2086804 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3762+250A>G single nucleotide variant not provided [RCV001565274] Chr9:2119785 [GRCh38]
Chr9:2119785 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.356-253A>G single nucleotide variant not provided [RCV001616571] Chr9:2039213 [GRCh38]
Chr9:2039213 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4199+183T>C single nucleotide variant not provided [RCV001709095] Chr9:2162086 [GRCh38]
Chr9:2162086 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4738-271T>G single nucleotide variant not provided [RCV001537205] Chr9:2192433 [GRCh38]
Chr9:2192433 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2184+112A>G single nucleotide variant not provided [RCV001691817] Chr9:2077888 [GRCh38]
Chr9:2077888 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4595-41T>A single nucleotide variant not provided [RCV001707110] Chr9:2191225 [GRCh38]
Chr9:2191225 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3763-80T>C single nucleotide variant not provided [RCV001666673] Chr9:2123639 [GRCh38]
Chr9:2123639 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2991+10G>T single nucleotide variant not provided [RCV001682485] Chr9:2096774 [GRCh38]
Chr9:2096774 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2185-224A>T single nucleotide variant not provided [RCV001696662] Chr9:2081608 [GRCh38]
Chr9:2081608 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NM_003070.5(SMARCA2):c.1600G>A (p.Asp534Asn) single nucleotide variant Intellectual disability [RCV001027657] Chr9:2060894 [GRCh38]
Chr9:2060894 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.2786A>T (p.Glu929Val) single nucleotide variant Blepharophimosis-impaired intellectual development syndrome [RCV001375921]|Intellectual disability [RCV001027658] Chr9:2088516 [GRCh38]
Chr9:2088516 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic
NM_003070.5(SMARCA2):c.2809C>T (p.Arg937Cys) single nucleotide variant Intellectual disability [RCV001027659] Chr9:2088539 [GRCh38]
Chr9:2088539 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.2156T>C (p.Leu719Pro) single nucleotide variant Chiari malformation [RCV001027663] Chr9:2077748 [GRCh38]
Chr9:2077748 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.*230T>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV001167857] Chr9:2192969 [GRCh38]
Chr9:2192969 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.324T>A (p.Pro108=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001168536]|not provided [RCV003718378] Chr9:2033050 [GRCh38]
Chr9:2033050 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.1599C>T (p.Thr533=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001168597]|not provided [RCV002557452] Chr9:2060893 [GRCh38]
Chr9:2060893 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.1675A>C (p.Arg559=) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001168598] Chr9:2060969 [GRCh38]
Chr9:2060969 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3981+11C>G single nucleotide variant Nicolaides-Baraitser syndrome [RCV001168671] Chr9:2123948 [GRCh38]
Chr9:2123948 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2070C>G (p.Ser690Arg) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001169363] Chr9:2077662 [GRCh38]
Chr9:2077662 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4080T>G (p.Asp1360Glu) single nucleotide variant Inborn genetic diseases [RCV003284011]|Nicolaides-Baraitser syndrome [RCV001169433]|not provided [RCV002558683] Chr9:2161784 [GRCh38]
Chr9:2161784 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4736G>A (p.Arg1579His) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001165677]|not provided [RCV003142090] Chr9:2191407 [GRCh38]
Chr9:2191407 [GRCh37]
Chr9:9p24.3		 benign|uncertain significance
NM_003070.5(SMARCA2):c.*876G>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV001165748] Chr9:2193615 [GRCh38]
Chr9:2193615 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.734A>T (p.Gln245Leu) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001166358]|not provided [RCV003433069] Chr9:2039844 [GRCh38]
Chr9:2039844 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1538G>T (p.Gly513Val) single nucleotide variant Intellectual disability [RCV001029746] Chr9:2060832 [GRCh38]
Chr9:2060832 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.4738-7C>T single nucleotide variant not provided [RCV001092990] Chr9:2192697 [GRCh38]
Chr9:2192697 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3040A>G (p.Lys1014Glu) single nucleotide variant Intellectual disability [RCV001027660] Chr9:2097433 [GRCh38]
Chr9:2097433 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2810G>T (p.Arg937Leu) single nucleotide variant Blepharophimosis-impaired intellectual development syndrome [RCV001375922]|Intellectual disability [RCV001027661] Chr9:2088540 [GRCh38]
Chr9:2088540 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His) single nucleotide variant Inborn genetic diseases [RCV001265727]|Intellectual disability [RCV001027662]|Nicolaides-Baraitser syndrome [RCV001330804]|SMARCA2-related BAFopathy [RCV001533104]|not provided [RCV001568826] Chr9:2088540 [GRCh38]
Chr9:2088540 [GRCh37]
Chr9:9p24.3		 pathogenic|likely pathogenic|uncertain significance
NM_003070.5(SMARCA2):c.2795T>C (p.Ile932Thr) single nucleotide variant Intellectual disability [RCV001027724] Chr9:2088525 [GRCh38]
Chr9:2088525 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1458C>G (p.Asn486Lys) single nucleotide variant Intellectual disability [RCV001027725] Chr9:2058401 [GRCh38]
Chr9:2058401 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4737+12C>T single nucleotide variant Nicolaides-Baraitser syndrome [RCV001165678]|not provided [RCV002557420] Chr9:2191420 [GRCh38]
Chr9:2191420 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.4737+13G>A single nucleotide variant Nicolaides-Baraitser syndrome [RCV001165679]|not provided [RCV001712862] Chr9:2191421 [GRCh38]
Chr9:2191421 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.517C>T (p.Pro173Ser) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001169293] Chr9:2039627 [GRCh38]
Chr9:2039627 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.-56G>A single nucleotide variant Nicolaides-Baraitser syndrome [RCV001166821] Chr9:2015385 [GRCh38]
Chr9:2015385 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2852A>G (p.Lys951Arg) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001253250] Chr9:2088582 [GRCh38]
Chr9:2088582 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4414A>C (p.Met1472Leu) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001253435] Chr9:2182195 [GRCh38]
Chr9:2182195 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4666A>G (p.Lys1556Glu) single nucleotide variant Microcephaly [RCV001252912] Chr9:2191337 [GRCh38]
Chr9:2191337 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3252T>A (p.Asp1084Glu) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001253345] Chr9:2104129 [GRCh38]
Chr9:2104129 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3599A>C (p.Gln1200Pro) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001253448] Chr9:2115964 [GRCh38]
Chr9:2115964 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.3220C>G (p.Gln1074Glu) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001265544] Chr9:2104097 [GRCh38]
Chr9:2104097 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.3079-136G>A single nucleotide variant not provided [RCV001641586] Chr9:2101434 [GRCh38]
Chr9:2101434 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4765G>C (p.Asp1589His) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001335090] Chr9:2192731 [GRCh38]
Chr9:2192731 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-24.2(chr9:204090-2430905)x1 copy number loss See cases [RCV001263053] Chr9:204090..2430905 [GRCh37]
Chr9:9p24.3-24.2		 pathogenic
NM_003070.5(SMARCA2):c.1529A>G (p.Asp510Gly) single nucleotide variant Blepharophimosis - intellectual disability syndrome [RCV001261978] Chr9:2060823 [GRCh38]
Chr9:2060823 [GRCh37]
Chr9:9p24.3		 likely pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1 copy number loss See cases [RCV002285070] Chr9:203861..10283912 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_003070.5(SMARCA2):c.2561A>T (p.His854Leu) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001261296] Chr9:2086863 [GRCh38]
Chr9:2086863 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.3298A>C (p.Thr1100Pro) single nucleotide variant not provided [RCV001813839] Chr9:2110259 [GRCh38]
Chr9:2110259 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.2383T>C (p.Trp795Arg) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001261295] Chr9:2083381 [GRCh38]
Chr9:2083381 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.787T>A (p.Ser263Thr) single nucleotide variant Pituitary stalk interruption syndrome [RCV001257301] Chr9:2039897 [GRCh38]
Chr9:2039897 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.2342C>G (p.Pro781Arg) single nucleotide variant Intellectual disability [RCV001260861] Chr9:2081989 [GRCh38]
Chr9:2081989 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.3623C>G (p.Ser1208Cys) single nucleotide variant Intellectual disability [RCV001260788] Chr9:2115988 [GRCh38]
Chr9:2115988 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.3457-2A>T single nucleotide variant Nicolaides-Baraitser syndrome [RCV001260903] Chr9:2115820 [GRCh38]
Chr9:2115820 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.3754del (p.Leu1252fs) deletion Intellectual disability [RCV001260853] Chr9:2119526 [GRCh38]
Chr9:2119526 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1471C>T (p.Gln491Ter) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001262389] Chr9:2058414 [GRCh38]
Chr9:2058414 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3230C>G (p.Ser1077Cys) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001262658] Chr9:2104107 [GRCh38]
Chr9:2104107 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4461+3C>G single nucleotide variant Nicolaides-Baraitser syndrome [RCV001262520] Chr9:2182245 [GRCh38]
Chr9:2182245 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4594+232T>C single nucleotide variant not provided [RCV001539690] Chr9:2186460 [GRCh38]
Chr9:2186460 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3-23(chr9:203861-12570076) copy number loss Chromosome 9p deletion syndrome [RCV002280768] Chr9:203861..12570076 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_003070.5(SMARCA2):c.3412G>C (p.Ala1138Pro) single nucleotide variant Inborn genetic diseases [RCV001266415] Chr9:2110373 [GRCh38]
Chr9:2110373 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263225] Chr9:204193..18073357 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_003070.5(SMARCA2):c.1538G>A (p.Gly513Asp) single nucleotide variant Blepharophimosis [RCV001258327] Chr9:2060832 [GRCh38]
Chr9:2060832 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His) single nucleotide variant Blepharophimosis-impaired intellectual development syndrome [RCV003147603]|Nicolaides-Baraitser syndrome [RCV001262574] Chr9:2110275 [GRCh38]
Chr9:2110275 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.274G>A (p.Gly92Arg) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001335089] Chr9:2033000 [GRCh38]
Chr9:2033000 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2254G>A (p.Gly752Arg) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001335088]|SMARCA2-related BAFopathy [RCV001533097] Chr9:2081901 [GRCh38]
Chr9:2081901 [GRCh37]
Chr9:9p24.3		 likely pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) copy number loss Trigonocephaly [RCV001352660] Chr9:204193..18654812 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
NM_003070.5(SMARCA2):c.4262G>A (p.Arg1421Gln) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001352692] Chr9:2181579 [GRCh38]
Chr9:2181579 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3448C>G (p.Pro1150Ala) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001330805] Chr9:2110409 [GRCh38]
Chr9:2110409 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1553T>C (p.Ile518Thr) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001283797]|SMARCA2-related condition [RCV003399051] Chr9:2060847 [GRCh38]
Chr9:2060847 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.2883+46A>G single nucleotide variant not provided [RCV001528013] Chr9:2088659 [GRCh38]
Chr9:2088659 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2185-93A>G single nucleotide variant not provided [RCV001581647] Chr9:2081739 [GRCh38]
Chr9:2081739 [GRCh37]
Chr9:9p24.3		 likely benign
NC_000009.11:g.(?_2029023)_(5300444_?)dup duplication not provided [RCV001346810] Chr9:2029023..5300444 [GRCh37]
Chr9:9p24.3-24.1		 uncertain significance
NM_003070.5(SMARCA2):c.1534G>A (p.Glu512Lys) single nucleotide variant not specified [RCV001280572] Chr9:2060828 [GRCh38]
Chr9:2060828 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1600G>C (p.Asp534His) single nucleotide variant not provided [RCV001269920] Chr9:2060894 [GRCh38]
Chr9:2060894 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.4696G>A (p.Val1566Ile) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001330806] Chr9:2191367 [GRCh38]
Chr9:2191367 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.880G>A (p.Ala294Thr) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001420596] Chr9:2047318 [GRCh38]
Chr9:2047318 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3763-35C>T single nucleotide variant not provided [RCV001539194] Chr9:2123684 [GRCh38]
Chr9:2123684 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2349-10dup duplication not provided [RCV001540950] Chr9:2083325..2083326 [GRCh38]
Chr9:2083325..2083326 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3762+47C>T single nucleotide variant not provided [RCV001652747] Chr9:2119582 [GRCh38]
Chr9:2119582 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3079-25T>A single nucleotide variant Blepharophimosis-impaired intellectual development syndrome [RCV001810237]|Nicolaides-Baraitser syndrome [RCV001810236]|not provided [RCV001681315] Chr9:2101545 [GRCh38]
Chr9:2101545 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3982-40C>T single nucleotide variant not provided [RCV001709001] Chr9:2161646 [GRCh38]
Chr9:2161646 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1936-55A>T single nucleotide variant not provided [RCV001686267] Chr9:2076174 [GRCh38]
Chr9:2076174 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3684+104A>C single nucleotide variant not provided [RCV001710839] Chr9:2116153 [GRCh38]
Chr9:2116153 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3762+194A>C single nucleotide variant not provided [RCV001670578] Chr9:2119729 [GRCh38]
Chr9:2119729 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.355+49A>C single nucleotide variant not provided [RCV001650455] Chr9:2033130 [GRCh38]
Chr9:2033130 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1878-84A>G single nucleotide variant not provided [RCV001614982] Chr9:2073482 [GRCh38]
Chr9:2073482 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1047-188C>T single nucleotide variant not provided [RCV001686561] Chr9:2054409 [GRCh38]
Chr9:2054409 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1935+85G>T single nucleotide variant not provided [RCV001670763] Chr9:2073708 [GRCh38]
Chr9:2073708 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3078+65del deletion not provided [RCV001619458] Chr9:2097528 [GRCh38]
Chr9:2097528 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.790+73C>T single nucleotide variant not provided [RCV001687944] Chr9:2039973 [GRCh38]
Chr9:2039973 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3078+88dup duplication not provided [RCV001619019] Chr9:2097548..2097549 [GRCh38]
Chr9:2097548..2097549 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1747-50G>C single nucleotide variant not provided [RCV001619078] Chr9:2073162 [GRCh38]
Chr9:2073162 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2526+13A>G single nucleotide variant not provided [RCV001646016] Chr9:2084209 [GRCh38]
Chr9:2084209 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3079-248G>A single nucleotide variant not provided [RCV001686416] Chr9:2101322 [GRCh38]
Chr9:2101322 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4594+16C>T single nucleotide variant not provided [RCV001650061] Chr9:2186244 [GRCh38]
Chr9:2186244 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4595-285T>G single nucleotide variant not provided [RCV001641006] Chr9:2190981 [GRCh38]
Chr9:2190981 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2883+269_2883+281dup duplication not provided [RCV001539233] Chr9:2088879..2088880 [GRCh38]
Chr9:2088879..2088880 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2770-109A>C single nucleotide variant not provided [RCV001614359] Chr9:2088391 [GRCh38]
Chr9:2088391 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4461+48G>A single nucleotide variant not provided [RCV001652039] Chr9:2182290 [GRCh38]
Chr9:2182290 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1174-109G>A single nucleotide variant not provided [RCV001724519] Chr9:2056563 [GRCh38]
Chr9:2056563 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3762+182G>A single nucleotide variant not provided [RCV001591602] Chr9:2119717 [GRCh38]
Chr9:2119717 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2883+274_2883+281dup duplication not provided [RCV001687174] Chr9:2088879..2088880 [GRCh38]
Chr9:2088879..2088880 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4359+178C>T single nucleotide variant not provided [RCV001672151] Chr9:2181854 [GRCh38]
Chr9:2181854 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2037-185G>T single nucleotide variant not provided [RCV001685273] Chr9:2077444 [GRCh38]
Chr9:2077444 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2883+203G>A single nucleotide variant not provided [RCV001583009] Chr9:2088816 [GRCh38]
Chr9:2088816 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3962C>T (p.Thr1321Met) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001706781] Chr9:2123918 [GRCh38]
Chr9:2123918 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.1047-217C>T single nucleotide variant not provided [RCV001688070] Chr9:2054380 [GRCh38]
Chr9:2054380 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1522-182G>A single nucleotide variant not provided [RCV001592304] Chr9:2060634 [GRCh38]
Chr9:2060634 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3763-188G>A single nucleotide variant not provided [RCV001692630] Chr9:2123531 [GRCh38]
Chr9:2123531 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.567T>C (p.Tyr189=) single nucleotide variant not provided [RCV001756392] Chr9:2039677 [GRCh38]
Chr9:2039677 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3490G>A (p.Gly1164Arg) single nucleotide variant not provided [RCV001727466] Chr9:2115855 [GRCh38]
Chr9:2115855 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.67C>T (p.Pro23Ser) single nucleotide variant Autism spectrum disorder [RCV003127247] Chr9:2029089 [GRCh38]
Chr9:2029089 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4283_4286del (p.Ile1428fs) microsatellite not provided [RCV002255073] Chr9:2181596..2181599 [GRCh38]
Chr9:2181596..2181599 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1935+23G>T single nucleotide variant not provided [RCV001732676] Chr9:2073646 [GRCh38]
Chr9:2073646 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1064C>G (p.Ala355Gly) single nucleotide variant not provided [RCV001754785] Chr9:2054614 [GRCh38]
Chr9:2054614 [GRCh37]
Chr9:9p24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_003070.5(SMARCA2):c.4595-11T>A single nucleotide variant not provided [RCV001767371] Chr9:2191255 [GRCh38]
Chr9:2191255 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1347+45G>T single nucleotide variant not provided [RCV002247201] Chr9:2056890 [GRCh38]
Chr9:2056890 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1890C>T (p.Ala630=) single nucleotide variant Inborn genetic diseases [RCV002414302]|not provided [RCV001733260] Chr9:2073578 [GRCh38]
Chr9:2073578 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.2939A>G (p.His980Arg) single nucleotide variant not provided [RCV002248269] Chr9:2096712 [GRCh38]
Chr9:2096712 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1333C>T (p.Arg445Cys) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001771802] Chr9:2056831 [GRCh38]
Chr9:2056831 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2527A>T (p.Ile843Phe) single nucleotide variant not provided [RCV002259496] Chr9:2086829 [GRCh38]
Chr9:2086829 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2991+40A>G single nucleotide variant not provided [RCV001732887] Chr9:2096804 [GRCh38]
Chr9:2096804 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2244C>T (p.Ala748=) single nucleotide variant Inborn genetic diseases [RCV002425073]|not provided [RCV001787475] Chr9:2081891 [GRCh38]
Chr9:2081891 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2931G>A (p.Leu977=) single nucleotide variant SMARCA2-related condition [RCV003941131]|not provided [RCV001787515] Chr9:2096704 [GRCh38]
Chr9:2096704 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.1601A>G (p.Asp534Gly) single nucleotide variant not provided [RCV003238485] Chr9:2060895 [GRCh38]
Chr9:2060895 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.3479C>G (p.Ala1160Gly) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001775434] Chr9:2115844 [GRCh38]
Chr9:2115844 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.2932T>C (p.Tyr978His) single nucleotide variant not provided [RCV001754468] Chr9:2096705 [GRCh38]
Chr9:2096705 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3940G>A (p.Val1314Met) single nucleotide variant not provided [RCV001773030] Chr9:2123896 [GRCh38]
Chr9:2123896 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1211C>T (p.Thr404Met) single nucleotide variant not provided [RCV001771336] Chr9:2056709 [GRCh38]
Chr9:2056709 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.344A>T (p.Gln115Leu) single nucleotide variant not provided [RCV001763382] Chr9:2033070 [GRCh38]
Chr9:2033070 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2532G>A (p.Arg844=) single nucleotide variant not provided [RCV001733012] Chr9:2086834 [GRCh38]
Chr9:2086834 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2154C>G (p.Leu718=) single nucleotide variant not provided [RCV001776516] Chr9:2077746 [GRCh38]
Chr9:2077746 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.209T>A (p.Met70Lys) single nucleotide variant not provided [RCV001752596] Chr9:2029231 [GRCh38]
Chr9:2029231 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3615C>G (p.Asp1205Glu) single nucleotide variant not provided [RCV001773809] Chr9:2115980 [GRCh38]
Chr9:2115980 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3519G>T (p.Arg1173Ser) single nucleotide variant not provided [RCV001773810] Chr9:2115884 [GRCh38]
Chr9:2115884 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3265C>T (p.Arg1089Trp) single nucleotide variant not provided [RCV001763119] Chr9:2104142 [GRCh38]
Chr9:2104142 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.334C>T (p.Pro112Ser) single nucleotide variant not provided [RCV001774106] Chr9:2033060 [GRCh38]
Chr9:2033060 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1226C>G (p.Ala409Gly) single nucleotide variant not provided [RCV001767737] Chr9:2056724 [GRCh38]
Chr9:2056724 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1436C>T (p.Ala479Val) single nucleotide variant not provided [RCV001773261] Chr9:2058379 [GRCh38]
Chr9:2058379 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.497A>G (p.Gln166Arg) single nucleotide variant not provided [RCV001752408] Chr9:2039607 [GRCh38]
Chr9:2039607 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4370G>A (p.Arg1457His) single nucleotide variant not provided [RCV001765182] Chr9:2182151 [GRCh38]
Chr9:2182151 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3229T>A (p.Ser1077Thr) single nucleotide variant not provided [RCV001752576]|not specified [RCV001815041] Chr9:2104106 [GRCh38]
Chr9:2104106 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.3510G>T (p.Arg1170=) single nucleotide variant SMARCA2-related condition [RCV003900862]|not provided [RCV001752330] Chr9:2115875 [GRCh38]
Chr9:2115875 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.4212G>T (p.Glu1404Asp) single nucleotide variant not provided [RCV001765105] Chr9:2170431 [GRCh38]
Chr9:2170431 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2878G>A (p.Glu960Lys) single nucleotide variant not provided [RCV001757844] Chr9:2088608 [GRCh38]
Chr9:2088608 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1931A>C (p.Glu644Ala) single nucleotide variant not provided [RCV001766029] Chr9:2073619 [GRCh38]
Chr9:2073619 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.869C>T (p.Ala290Val) single nucleotide variant Inborn genetic diseases [RCV002370272]|not provided [RCV001754055] Chr9:2047307 [GRCh38]
Chr9:2047307 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.4157_4166del (p.Gln1386fs) deletion not provided [RCV001770941] Chr9:2161859..2161868 [GRCh38]
Chr9:2161859..2161868 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3492G>A (p.Gly1164=) single nucleotide variant Inborn genetic diseases [RCV002458583]|not provided [RCV001763595] Chr9:2115857 [GRCh38]
Chr9:2115857 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1428C>G (p.Leu476=) single nucleotide variant not provided [RCV001762881] Chr9:2058371 [GRCh38]
Chr9:2058371 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4716C>T (p.Ser1572=) single nucleotide variant Inborn genetic diseases [RCV002334654]|not provided [RCV001732765] Chr9:2191387 [GRCh38]
Chr9:2191387 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2211C>T (p.Ser737=) single nucleotide variant SMARCA2-related condition [RCV003913377]|not provided [RCV001794619] Chr9:2081858 [GRCh38]
Chr9:2081858 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.508G>C (p.Gly170Arg) single nucleotide variant not provided [RCV001794849] Chr9:2039618 [GRCh38]
Chr9:2039618 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.645G>A (p.Leu215=) single nucleotide variant not provided [RCV001786699] Chr9:2039755 [GRCh38]
Chr9:2039755 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2349-15T>A single nucleotide variant not provided [RCV001787514] Chr9:2083332 [GRCh38]
Chr9:2083332 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.2929C>T (p.Leu977=) single nucleotide variant Inborn genetic diseases [RCV002440878]|not provided [RCV001794691] Chr9:2096702 [GRCh38]
Chr9:2096702 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.682_683insCGC (p.Gln227_Gln228insPro) insertion not provided [RCV001799959] Chr9:2039790..2039791 [GRCh38]
Chr9:2039790..2039791 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4595-48C>T single nucleotide variant not provided [RCV001800082] Chr9:2191218 [GRCh38]
Chr9:2191218 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3982-4A>T single nucleotide variant not provided [RCV001751892] Chr9:2161682 [GRCh38]
Chr9:2161682 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.666_683del (p.Gln233_Gln238del) deletion not provided [RCV001797277] Chr9:2039765..2039782 [GRCh38]
Chr9:2039765..2039782 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.667_668insCAG (p.Gln223delinsProGlu) insertion not provided [RCV001797292] Chr9:2039777..2039778 [GRCh38]
Chr9:2039777..2039778 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4509G>A (p.Arg1503=) single nucleotide variant not provided [RCV001797300] Chr9:2186143 [GRCh38]
Chr9:2186143 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.583G>C (p.Gly195Arg) single nucleotide variant not provided [RCV001758568] Chr9:2039693 [GRCh38]
Chr9:2039693 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3384T>C (p.Ala1128=) single nucleotide variant not specified [RCV001819378] Chr9:2110345 [GRCh38]
Chr9:2110345 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2762G>T (p.Gly921Val) single nucleotide variant not specified [RCV001820262] Chr9:2087064 [GRCh38]
Chr9:2087064 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4218G>A (p.Val1406=) single nucleotide variant not provided [RCV002542039]|not specified [RCV001820276] Chr9:2170437 [GRCh38]
Chr9:2170437 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4479C>G (p.Ile1493Met) single nucleotide variant not specified [RCV001820614] Chr9:2186113 [GRCh38]
Chr9:2186113 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1035G>A (p.Glu345=) single nucleotide variant not provided [RCV001816503] Chr9:2047473 [GRCh38]
Chr9:2047473 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2032A>G (p.Ile678Val) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001809063] Chr9:2076325 [GRCh38]
Chr9:2076325 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1174-10T>C single nucleotide variant not specified [RCV001820267] Chr9:2056662 [GRCh38]
Chr9:2056662 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4708T>C (p.Phe1570Leu) single nucleotide variant Blepharophimosis-impaired intellectual development syndrome [RCV003147729]|Nicolaides-Baraitser syndrome [RCV003147728]|not provided [RCV002025249] Chr9:2191379 [GRCh38]
Chr9:2191379 [GRCh37]
Chr9:9p24.3		 benign|uncertain significance
NM_003070.5(SMARCA2):c.669GCA[3] (p.Gln229_Gln238del) microsatellite not provided [RCV001823367] Chr9:2039777..2039806 [GRCh38]
Chr9:2039777..2039806 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2348+8A>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV001839085]|not provided [RCV002545217] Chr9:2082003 [GRCh38]
Chr9:2082003 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.251G>A (p.Gly84Glu) single nucleotide variant not provided [RCV002044992] Chr9:2032977 [GRCh38]
Chr9:2032977 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.710A>C (p.Gln237Pro) single nucleotide variant not provided [RCV001864222] Chr9:2039820 [GRCh38]
Chr9:2039820 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152) copy number loss not specified [RCV002053808] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268) copy number loss not specified [RCV002053814] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074) copy number loss not specified [RCV002053815] Chr9:203861..14694074 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277) copy number loss not specified [RCV002053816] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462) copy number loss not specified [RCV002053810] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-24.2(chr9:203861-3226591) copy number loss not specified [RCV002053806] Chr9:203861..3226591 [GRCh37]
Chr9:9p24.3-24.2		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NM_003070.5(SMARCA2):c.1181A>G (p.Gln394Arg) single nucleotide variant not provided [RCV002039899] Chr9:2056679 [GRCh38]
Chr9:2056679 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-24.2(chr9:203861-4342995) copy number gain not specified [RCV002053807] Chr9:203861..4342995 [GRCh37]
Chr9:9p24.3-24.2		 uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-7759331) copy number loss not specified [RCV002053809] Chr9:203861..7759331 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9631665) copy number loss not specified [RCV002053811] Chr9:203861..9631665 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907) copy number loss not specified [RCV002053817] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-24.2(chr9:1196289-4322298) copy number gain not specified [RCV002053828] Chr9:1196289..4322298 [GRCh37]
Chr9:9p24.3-24.2		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-11414732) copy number loss not specified [RCV002053812] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_003070.5(SMARCA2):c.3768G>T (p.Met1256Ile) single nucleotide variant Developmental disorder [RCV001843762] Chr9:2123724 [GRCh38]
Chr9:2123724 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4696G>C (p.Val1566Leu) single nucleotide variant Nicolaides-Baraitser syndrome [RCV001839214]|not provided [RCV003660908] Chr9:2191367 [GRCh38]
Chr9:2191367 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
NM_003070.5(SMARCA2):c.4764T>A (p.Asp1588Glu) single nucleotide variant Inborn genetic diseases [RCV002543262]|not provided [RCV001840835] Chr9:2192730 [GRCh38]
Chr9:2192730 [GRCh37]
Chr9:9p24.3		 likely benign|conflicting interpretations of pathogenicity
NM_003070.5(SMARCA2):c.2564G>T (p.Arg855Leu) single nucleotide variant Vein of Galen aneurysmal malformation [RCV001849639] Chr9:2086866 [GRCh38]
Chr9:2086866 [GRCh37]
Chr9:9p24.3		 association
NM_003070.5(SMARCA2):c.3779G>A (p.Arg1260Gln) single nucleotide variant not provided [RCV002002841] Chr9:2123735 [GRCh38]
Chr9:2123735 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.173C>T (p.Pro58Leu) single nucleotide variant not provided [RCV001942824] Chr9:2029195 [GRCh38]
Chr9:2029195 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.3894A>C (p.Glu1298Asp) single nucleotide variant not provided [RCV002030000] Chr9:2123850 [GRCh38]
Chr9:2123850 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2792C>G (p.Thr931Ser) single nucleotide variant not provided [RCV002034440] Chr9:2088522 [GRCh38]
Chr9:2088522 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1746+4del deletion not provided [RCV001901241] Chr9:2070474 [GRCh38]
Chr9:2070474 [GRCh37]
Chr9:9p24.3		 benign|uncertain significance
NM_003070.5(SMARCA2):c.1378A>G (p.Lys460Glu) single nucleotide variant not provided [RCV001979409] Chr9:2058321 [GRCh38]
Chr9:2058321 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.669GCA[7] (p.Gln233_Gln238del) microsatellite not provided [RCV001932363] Chr9:2039777..2039794 [GRCh38]
Chr9:2039777..2039794 [GRCh37]
Chr9:9p24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_003070.5(SMARCA2):c.3702G>A (p.Pro1234=) single nucleotide variant not provided [RCV002190827] Chr9:2119475 [GRCh38]
Chr9:2119475 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3505G>T (p.Val1169Phe) single nucleotide variant Nicolaides-Baraitser syndrome [RCV002226611] Chr9:2115870 [GRCh38]
Chr9:2115870 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2673C>T (p.Leu891=) single nucleotide variant not provided [RCV002092020] Chr9:2086975 [GRCh38]
Chr9:2086975 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.413T>C (p.Met138Thr) single nucleotide variant not provided [RCV002224901] Chr9:2039523 [GRCh38]
Chr9:2039523 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4461+10_4461+11del deletion not provided [RCV002207990] Chr9:2182251..2182252 [GRCh38]
Chr9:2182251..2182252 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1347+9A>C single nucleotide variant not provided [RCV002089509] Chr9:2056854 [GRCh38]
Chr9:2056854 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3982-11C>A single nucleotide variant not provided [RCV002072751] Chr9:2161675 [GRCh38]
Chr9:2161675 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3079-11C>G single nucleotide variant not provided [RCV002224895] Chr9:2101559 [GRCh38]
Chr9:2101559 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3780G>A (p.Arg1260=) single nucleotide variant Inborn genetic diseases [RCV002346337]|not provided [RCV002092374] Chr9:2123736 [GRCh38]
Chr9:2123736 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.873C>T (p.Pro291=) single nucleotide variant not provided [RCV002131234] Chr9:2047311 [GRCh38]
Chr9:2047311 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4253+9C>T single nucleotide variant not provided [RCV002192774] Chr9:2170481 [GRCh38]
Chr9:2170481 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.816G>A (p.Pro272=) single nucleotide variant not provided [RCV002214486] Chr9:2047254 [GRCh38]
Chr9:2047254 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4360-16C>T single nucleotide variant not provided [RCV002133269] Chr9:2182125 [GRCh38]
Chr9:2182125 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3292+15C>T single nucleotide variant not provided [RCV002134912] Chr9:2104184 [GRCh38]
Chr9:2104184 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2348+9A>C single nucleotide variant not provided [RCV002186302] Chr9:2082004 [GRCh38]
Chr9:2082004 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1877+19G>A single nucleotide variant not provided [RCV002218505] Chr9:2073361 [GRCh38]
Chr9:2073361 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.674A>C (p.Gln225Pro) single nucleotide variant not provided [RCV002216870] Chr9:2039784 [GRCh38]
Chr9:2039784 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4461+17del deletion not provided [RCV002124242] Chr9:2182258 [GRCh38]
Chr9:2182258 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.355+18A>G single nucleotide variant not provided [RCV002199886] Chr9:2033099 [GRCh38]
Chr9:2033099 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4462-14del deletion not provided [RCV002098278] Chr9:2186079 [GRCh38]
Chr9:2186079 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3466G>A (p.Ala1156Thr) single nucleotide variant not provided [RCV003109977] Chr9:2115831 [GRCh38]
Chr9:2115831 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.3807A>G (p.Lys1269=) single nucleotide variant not provided [RCV003114894] Chr9:2123763 [GRCh38]
Chr9:2123763 [GRCh37]
Chr9:9p24.3		 likely benign
NC_000009.11:g.(?_2170399)_(2170492_?)del deletion not provided [RCV003113201] Chr9:2170399..2170492 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.11:g.(?_2181551)_(2192739_?)del deletion not provided [RCV003113202] Chr9:2181551..2192739 [GRCh37]
Chr9:9p24.3		 uncertain significance
NC_000009.11:g.(?_676973)_(2729727_?)del deletion not provided [RCV003119520] Chr9:676973..2729727 [GRCh37]
Chr9:9p24.3-24.2		 uncertain significance
NM_003070.5(SMARCA2):c.820A>G (p.Thr274Ala) single nucleotide variant Inborn genetic diseases [RCV003242754] Chr9:2047258 [GRCh38]
Chr9:2047258 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.221A>G (p.His74Arg) single nucleotide variant Inborn genetic diseases [RCV003294879] Chr9:2029243 [GRCh38]
Chr9:2029243 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3026T>C (p.Ile1009Thr) single nucleotide variant Nicolaides-Baraitser syndrome [RCV003153037] Chr9:2097419 [GRCh38]
Chr9:2097419 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3391del (p.Leu1131fs) deletion not provided [RCV003149390] Chr9:2110351 [GRCh38]
Chr9:2110351 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2914G>C (p.Ala972Pro) single nucleotide variant Nicolaides-Baraitser syndrome [RCV002273093] Chr9:2096687 [GRCh38]
Chr9:2096687 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2258T>A (p.Leu753His) single nucleotide variant Nicolaides-Baraitser syndrome [RCV002246729] Chr9:2081905 [GRCh38]
Chr9:2081905 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.4254-3C>T single nucleotide variant not provided [RCV002255228] Chr9:2181568 [GRCh38]
Chr9:2181568 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.632C>T (p.Thr211Met) single nucleotide variant Inborn genetic diseases [RCV003093900]|Nicolaides-Baraitser syndrome [RCV002227698] Chr9:2039742 [GRCh38]
Chr9:2039742 [GRCh37]
Chr9:9p24.3		 uncertain significance
Single allele deletion Chromosome 9p deletion syndrome [RCV002247737] Chr9:203987..11602476 [GRCh38]
Chr9:9p24.3-23		 pathogenic
NM_003070.5(SMARCA2):c.2508C>A (p.Asp836Glu) single nucleotide variant Nicolaides-Baraitser syndrome [RCV002250832] Chr9:2084178 [GRCh38]
Chr9:2084178 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2185-45C>T single nucleotide variant not provided [RCV002255215] Chr9:2081787 [GRCh38]
Chr9:2081787 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.885_902del (p.Gln296_Ala301del) deletion not provided [RCV003156692] Chr9:2047318..2047335 [GRCh38]
Chr9:2047318..2047335 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4381T>C (p.Tyr1461His) single nucleotide variant not provided [RCV003229953] Chr9:2182162 [GRCh38]
Chr9:2182162 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_003070.5(SMARCA2):c.4528G>C (p.Glu1510Gln) single nucleotide variant not provided [RCV002263492] Chr9:2186162 [GRCh38]
Chr9:2186162 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.763G>A (p.Ala255Thr) single nucleotide variant not provided [RCV002273371] Chr9:2039873 [GRCh38]
Chr9:2039873 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4634A>T (p.Asp1545Val) single nucleotide variant not provided [RCV002273399] Chr9:2191305 [GRCh38]
Chr9:2191305 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1936-12T>A single nucleotide variant not provided [RCV002278938] Chr9:2076217 [GRCh38]
Chr9:2076217 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2647C>G (p.Pro883Ala) single nucleotide variant not provided [RCV002275884] Chr9:2086949 [GRCh38]
Chr9:2086949 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.3078G>C (p.Glu1026Asp) single nucleotide variant Abnormal cerebral morphology [RCV002275923] Chr9:2097471 [GRCh38]
Chr9:2097471 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3763-1230G>C single nucleotide variant Nicolaides-Baraitser syndrome [RCV002266719] Chr9:2122489 [GRCh38]
Chr9:2122489 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.874C>T (p.Pro292Ser) single nucleotide variant not provided [RCV002276194] Chr9:2047312 [GRCh38]
Chr9:2047312 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.154A>G (p.Ser52Gly) single nucleotide variant not provided [RCV002290908] Chr9:2029176 [GRCh38]
Chr9:2029176 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4253+3C>T single nucleotide variant not provided [RCV002269647] Chr9:2170475 [GRCh38]
Chr9:2170475 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-12127088) copy number loss Chromosome 9p deletion syndrome [RCV002280766] Chr9:203861..12127088 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_003070.5(SMARCA2):c.993C>T (p.Ile331=) single nucleotide variant not provided [RCV002276195] Chr9:2047431 [GRCh38]
Chr9:2047431 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2348+3A>G single nucleotide variant Inborn genetic diseases [RCV002443289]|SMARCA2-related condition [RCV003896105]|not provided [RCV002276196] Chr9:2081998 [GRCh38]
Chr9:2081998 [GRCh37]
Chr9:9p24.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_003070.5(SMARCA2):c.4572_4577del (p.Asp1524_Glu1525del) deletion not provided [RCV002276197] Chr9:2186201..2186206 [GRCh38]
Chr9:2186201..2186206 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.475G>C (p.Gly159Arg) single nucleotide variant not provided [RCV002281302] Chr9:2039585 [GRCh38]
Chr9:2039585 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4231C>T (p.Gln1411Ter) single nucleotide variant not specified [RCV002271765] Chr9:2170450 [GRCh38]
Chr9:2170450 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2126C>T (p.Ser709Leu) single nucleotide variant Nicolaides-Baraitser syndrome [RCV002273117]|not provided [RCV003138143] Chr9:2077718 [GRCh38]
Chr9:2077718 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2431C>G (p.Arg811Gly) single nucleotide variant Neurodevelopmental delay [RCV002274374] Chr9:2084101 [GRCh38]
Chr9:2084101 [GRCh37]
Chr9:9p24.3		 likely pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
NM_003070.5(SMARCA2):c.1676GGA[2] (p.Arg561_Arg562del) microsatellite Nicolaides-Baraitser syndrome [RCV002272742] Chr9:2060968..2060973 [GRCh38]
Chr9:2060968..2060973 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2376T>A (p.Phe792Leu) single nucleotide variant not provided [RCV002291464] Chr9:2083374 [GRCh38]
Chr9:2083374 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4575AGA[1] (p.Glu1527del) microsatellite See cases [RCV002287683]|not provided [RCV003227067] Chr9:2186207..2186209 [GRCh38]
Chr9:2186207..2186209 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.4366A>G (p.Ile1456Val) single nucleotide variant not provided [RCV002283242] Chr9:2182147 [GRCh38]
Chr9:2182147 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3849G>C (p.Trp1283Cys) single nucleotide variant Neurodevelopmental delay [RCV002274422] Chr9:2123805 [GRCh38]
Chr9:2123805 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.2526+1G>A single nucleotide variant not provided [RCV003236054] Chr9:2084197 [GRCh38]
Chr9:2084197 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823) copy number loss Chromosome 9p deletion syndrome [RCV002280770] Chr9:203861..7959823 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
NM_003070.5(SMARCA2):c.666_668del (p.Gln238del) deletion Inborn genetic diseases [RCV002366896] Chr9:2039774..2039776 [GRCh38]
Chr9:2039774..2039776 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.633G>A (p.Thr211=) single nucleotide variant Inborn genetic diseases [RCV002368927] Chr9:2039743 [GRCh38]
Chr9:2039743 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.624G>T (p.Gly208=) single nucleotide variant Inborn genetic diseases [RCV002366675] Chr9:2039734 [GRCh38]
Chr9:2039734 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3570C>T (p.Tyr1190=) single nucleotide variant Inborn genetic diseases [RCV002455006] Chr9:2115935 [GRCh38]
Chr9:2115935 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1 copy number loss See cases [RCV002287555] Chr9:203861..15048247 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
NM_003070.5(SMARCA2):c.2831C>A (p.Pro944Gln) single nucleotide variant Nicolaides-Baraitser syndrome [RCV003152902] Chr9:2088561 [GRCh38]
Chr9:2088561 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.4147C>A (p.Leu1383Met) single nucleotide variant Inborn genetic diseases [RCV003286445]|not provided [RCV003779936] Chr9:2161851 [GRCh38]
Chr9:2161851 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.3292G>A (p.Gly1098Ser) single nucleotide variant Nicolaides-Baraitser syndrome [RCV002471832] Chr9:2104169 [GRCh38]
Chr9:2104169 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.3484C>A (p.Arg1162Ser) single nucleotide variant not provided [RCV002469728] Chr9:2115849 [GRCh38]
Chr9:2115849 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.2838A>C (p.Leu946Phe) single nucleotide variant Nicolaides-Baraitser syndrome [RCV002471838] Chr9:2088568 [GRCh38]
Chr9:2088568 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.655C>T (p.Gln219Ter) single nucleotide variant not provided [RCV002474098] Chr9:2039765 [GRCh38]
Chr9:2039765 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.187A>T (p.Thr63Ser) single nucleotide variant Inborn genetic diseases [RCV002415272]|not provided [RCV003097321] Chr9:2029209 [GRCh38]
Chr9:2029209 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.879_896del (p.Gln296_Ala301del) deletion not provided [RCV002469895] Chr9:2047312..2047329 [GRCh38]
Chr9:2047312..2047329 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4600T>A (p.Ser1534Thr) single nucleotide variant not provided [RCV002474113] Chr9:2191271 [GRCh38]
Chr9:2191271 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203862-5958840)x4 copy number gain not provided [RCV002472665] Chr9:203862..5958840 [GRCh37]
Chr9:9p24.3-24.1		 likely pathogenic
NM_003070.5(SMARCA2):c.800C>G (p.Pro267Arg) single nucleotide variant Nicolaides-Baraitser syndrome [RCV002472211] Chr9:2047238 [GRCh38]
Chr9:2047238 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2296C>G (p.Leu766Val) single nucleotide variant Blepharophimosis-impaired intellectual development syndrome [RCV002465454] Chr9:2081943 [GRCh38]
Chr9:2081943 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2870A>G (p.Gln957Arg) single nucleotide variant Blepharophimosis-impaired intellectual development syndrome [RCV002471645] Chr9:2088600 [GRCh38]
Chr9:2088600 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.1511G>A (p.Arg504Gln) single nucleotide variant not provided [RCV003011771] Chr9:2058454 [GRCh38]
Chr9:2058454 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.815C>T (p.Pro272Leu) single nucleotide variant not provided [RCV003129099] Chr9:2047253 [GRCh38]
Chr9:2047253 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4300A>G (p.Lys1434Glu) single nucleotide variant not provided [RCV002306368] Chr9:2181617 [GRCh38]
Chr9:2181617 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.879A>G (p.Ala293=) single nucleotide variant Inborn genetic diseases [RCV002449775] Chr9:2047317 [GRCh38]
Chr9:2047317 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.847C>T (p.Pro283Ser) single nucleotide variant Inborn genetic diseases [RCV002447624] Chr9:2047285 [GRCh38]
Chr9:2047285 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3607A>G (p.Met1203Val) single nucleotide variant not provided [RCV003230040] Chr9:2115972 [GRCh38]
Chr9:2115972 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4344T>G (p.Asp1448Glu) single nucleotide variant SMARCA2-related condition [RCV003396964]|not specified [RCV003230984] Chr9:2181661 [GRCh38]
Chr9:2181661 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3932G>C (p.Arg1311Pro) single nucleotide variant not provided [RCV003154388] Chr9:2123888 [GRCh38]
Chr9:2123888 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.981C>T (p.Arg327=) single nucleotide variant Inborn genetic diseases [RCV002376836] Chr9:2047419 [GRCh38]
Chr9:2047419 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.708_713dup (p.Gln238_Pro239insGlnGln) duplication Inborn genetic diseases [RCV002365133] Chr9:2039812..2039813 [GRCh38]
Chr9:2039812..2039813 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.899C>T (p.Ala300Val) single nucleotide variant Inborn genetic diseases [RCV002376306] Chr9:2047337 [GRCh38]
Chr9:2047337 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4687G>A (p.Ala1563Thr) single nucleotide variant Inborn genetic diseases [RCV002330539] Chr9:2191358 [GRCh38]
Chr9:2191358 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.723_734dup (p.Gln245_Pro246insGlnProProGln) duplication not provided [RCV002308816] Chr9:2039829..2039830 [GRCh38]
Chr9:2039829..2039830 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.678G>A (p.Gln226=) single nucleotide variant Inborn genetic diseases [RCV002369402] Chr9:2039788 [GRCh38]
Chr9:2039788 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4521C>A (p.Ala1507=) single nucleotide variant Inborn genetic diseases [RCV002340002] Chr9:2186155 [GRCh38]
Chr9:2186155 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1146A>C (p.Ala382=) single nucleotide variant Inborn genetic diseases [RCV002337610] Chr9:2054696 [GRCh38]
Chr9:2054696 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4059T>C (p.Asp1353=) single nucleotide variant Inborn genetic diseases [RCV002321354]|not provided [RCV003775804] Chr9:2161763 [GRCh38]
Chr9:2161763 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.698_727dup (p.Gln242_Pro243insGlnGlnGlnGlnGlnGlnProGlnGlnGln) duplication Inborn genetic diseases [RCV002364647] Chr9:2039796..2039797 [GRCh38]
Chr9:2039796..2039797 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.732G>A (p.Pro244=) single nucleotide variant Inborn genetic diseases [RCV002380161] Chr9:2039842 [GRCh38]
Chr9:2039842 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4200-2A>G single nucleotide variant Inborn genetic diseases [RCV002327866] Chr9:2170417 [GRCh38]
Chr9:2170417 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4200-5C>T single nucleotide variant Inborn genetic diseases [RCV002327867]|not provided [RCV003775837] Chr9:2170414 [GRCh38]
Chr9:2170414 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.1265C>G (p.Thr422Ser) single nucleotide variant Inborn genetic diseases [RCV002443314]|not provided [RCV002306107] Chr9:2056763 [GRCh38]
Chr9:2056763 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2392T>G (p.Ser798Ala) single nucleotide variant not specified [RCV002302496] Chr9:2083390 [GRCh38]
Chr9:2083390 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.598G>A (p.Glu200Lys) single nucleotide variant Inborn genetic diseases [RCV002357879] Chr9:2039708 [GRCh38]
Chr9:2039708 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.909C>T (p.Pro303=) single nucleotide variant Inborn genetic diseases [RCV002450005] Chr9:2047347 [GRCh38]
Chr9:2047347 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.913C>T (p.Pro305Ser) single nucleotide variant not provided [RCV002308834] Chr9:2047351 [GRCh38]
Chr9:2047351 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.117C>T (p.Ser39=) single nucleotide variant Inborn genetic diseases [RCV002342358] Chr9:2029139 [GRCh38]
Chr9:2029139 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1685G>A (p.Arg562Lys) single nucleotide variant Inborn genetic diseases [RCV002414567]|not provided [RCV003223758] Chr9:2060979 [GRCh38]
Chr9:2060979 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.2649G>A (p.Pro883=) single nucleotide variant Inborn genetic diseases [RCV002428671]|not provided [RCV003720635] Chr9:2086951 [GRCh38]
Chr9:2086951 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3094C>T (p.His1032Tyr) single nucleotide variant Inborn genetic diseases [RCV002325835]|not provided [RCV003099189] Chr9:2101585 [GRCh38]
Chr9:2101585 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.736C>T (p.Pro246Ser) single nucleotide variant Inborn genetic diseases [RCV002380349] Chr9:2039846 [GRCh38]
Chr9:2039846 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1686G>A (p.Arg562=) single nucleotide variant Inborn genetic diseases [RCV002414580] Chr9:2060980 [GRCh38]
Chr9:2060980 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.707_727dup (p.Gln242_Pro243insGlnGlnGlnProGlnGlnGln) duplication Inborn genetic diseases [RCV002365097] Chr9:2039805..2039806 [GRCh38]
Chr9:2039805..2039806 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4672C>T (p.Pro1558Ser) single nucleotide variant Inborn genetic diseases [RCV002335166] Chr9:2191343 [GRCh38]
Chr9:2191343 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.850_873del (p.Gly284_Pro291del) deletion Inborn genetic diseases [RCV002414408] Chr9:2047278..2047301 [GRCh38]
Chr9:2047278..2047301 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.447A>T (p.Pro149=) single nucleotide variant Inborn genetic diseases [RCV002328529] Chr9:2039557 [GRCh38]
Chr9:2039557 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3159G>A (p.Glu1053=) single nucleotide variant Inborn genetic diseases [RCV002320894]|not provided [RCV003102316] Chr9:2104036 [GRCh38]
Chr9:2104036 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.765C>G (p.Ala255=) single nucleotide variant Inborn genetic diseases [RCV002396423] Chr9:2039875 [GRCh38]
Chr9:2039875 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1224G>A (p.Thr408=) single nucleotide variant Inborn genetic diseases [RCV002364128]|SMARCA2-related condition [RCV003971264] Chr9:2056722 [GRCh38]
Chr9:2056722 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.458C>T (p.Pro153Leu) single nucleotide variant Inborn genetic diseases [RCV002342269] Chr9:2039568 [GRCh38]
Chr9:2039568 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4737T>A (p.Arg1579=) single nucleotide variant Inborn genetic diseases [RCV002335501] Chr9:2191408 [GRCh38]
Chr9:2191408 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.903A>G (p.Ala301=) single nucleotide variant Inborn genetic diseases [RCV002378450] Chr9:2047341 [GRCh38]
Chr9:2047341 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3292G>C (p.Gly1098Arg) single nucleotide variant not provided [RCV002462406] Chr9:2104169 [GRCh38]
Chr9:2104169 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.904G>A (p.Val302Met) single nucleotide variant Inborn genetic diseases [RCV002905940] Chr9:2047342 [GRCh38]
Chr9:2047342 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.890C>T (p.Pro297Leu) single nucleotide variant Inborn genetic diseases [RCV002683519] Chr9:2047328 [GRCh38]
Chr9:2047328 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4471G>C (p.Asp1491His) single nucleotide variant not provided [RCV002512375] Chr9:2186105 [GRCh38]
Chr9:2186105 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.849C>A (p.Pro283=) single nucleotide variant not provided [RCV002862425] Chr9:2047287 [GRCh38]
Chr9:2047287 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3344C>T (p.Pro1115Leu) single nucleotide variant Inborn genetic diseases [RCV003012778]|SMARCA2-related condition [RCV003946402]|not provided [RCV003565608] Chr9:2110305 [GRCh38]
Chr9:2110305 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
GRCh37/hg19 9p24.3-24.2(chr9:1627292-2217469)x3 copy number gain not provided [RCV002475611] Chr9:1627292..2217469 [GRCh37]
Chr9:9p24.3-24.2		 uncertain significance
NM_003070.5(SMARCA2):c.2457G>A (p.Arg819=) single nucleotide variant not provided [RCV003014293] Chr9:2084127 [GRCh38]
Chr9:2084127 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1359C>T (p.Asn453=) single nucleotide variant not provided [RCV002774812] Chr9:2058302 [GRCh38]
Chr9:2058302 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1173+13C>A single nucleotide variant not provided [RCV002774980] Chr9:2054736 [GRCh38]
Chr9:2054736 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1541A>G (p.Tyr514Cys) single nucleotide variant Blepharophimosis-impaired intellectual development syndrome [RCV002510625] Chr9:2060835 [GRCh38]
Chr9:2060835 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4743G>T (p.Gln1581His) single nucleotide variant Inborn genetic diseases [RCV002994203]|not provided [RCV002994202] Chr9:2192709 [GRCh38]
Chr9:2192709 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.982A>C (p.Ile328Leu) single nucleotide variant not provided [RCV002618331] Chr9:2047420 [GRCh38]
Chr9:2047420 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.872C>G (p.Pro291Arg) single nucleotide variant not provided [RCV002511274] Chr9:2047310 [GRCh38]
Chr9:2047310 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1194C>T (p.Ala398=) single nucleotide variant not provided [RCV003017040] Chr9:2056692 [GRCh38]
Chr9:2056692 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2991+19T>C single nucleotide variant not provided [RCV002617951] Chr9:2096783 [GRCh38]
Chr9:2096783 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1941G>T (p.Glu647Asp) single nucleotide variant Inborn genetic diseases [RCV002569444]|not provided [RCV002511342] Chr9:2076234 [GRCh38]
Chr9:2076234 [GRCh37]
Chr9:9p24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_003070.5(SMARCA2):c.2992-18C>G single nucleotide variant not provided [RCV002750576] Chr9:2097367 [GRCh38]
Chr9:2097367 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.118G>A (p.Val40Ile) single nucleotide variant Inborn genetic diseases [RCV002885154]|not provided [RCV002881795] Chr9:2029140 [GRCh38]
Chr9:2029140 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4750G>T (p.Gly1584Ter) single nucleotide variant not provided [RCV002968014] Chr9:2192716 [GRCh38]
Chr9:2192716 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3456+11C>G single nucleotide variant not provided [RCV002861613] Chr9:2110428 [GRCh38]
Chr9:2110428 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1874C>T (p.Pro625Leu) single nucleotide variant Blepharophimosis-impaired intellectual development syndrome [RCV002776548] Chr9:2073339 [GRCh38]
Chr9:2073339 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.1131C>T (p.Thr377=) single nucleotide variant not provided [RCV002775214] Chr9:2054681 [GRCh38]
Chr9:2054681 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3448C>T (p.Pro1150Ser) single nucleotide variant not provided [RCV002614381] Chr9:2110409 [GRCh38]
Chr9:2110409 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2087G>C (p.Arg696Thr) single nucleotide variant Inborn genetic diseases [RCV002777640] Chr9:2077679 [GRCh38]
Chr9:2077679 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3384TGG[3] (p.Gly1130_Leu1131insGly) microsatellite not provided [RCV002863753] Chr9:2110344..2110345 [GRCh38]
Chr9:2110344..2110345 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.4377T>C (p.His1459=) single nucleotide variant not provided [RCV002512374] Chr9:2182158 [GRCh38]
Chr9:2182158 [GRCh37]
Chr9:9p24.3		 benign|likely benign
NM_003070.5(SMARCA2):c.1878-16C>T single nucleotide variant not provided [RCV002617123] Chr9:2073550 [GRCh38]
Chr9:2073550 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2037-9C>T single nucleotide variant not provided [RCV003075226] Chr9:2077620 [GRCh38]
Chr9:2077620 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.995A>C (p.Gln332Pro) single nucleotide variant not provided [RCV002863796] Chr9:2047433 [GRCh38]
Chr9:2047433 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1888G>A (p.Ala630Thr) single nucleotide variant not provided [RCV002881615] Chr9:2073576 [GRCh38]
Chr9:2073576 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4589C>G (p.Ser1530Cys) single nucleotide variant not provided [RCV003017341] Chr9:2186223 [GRCh38]
Chr9:2186223 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.750ACA[1] (p.Gln253del) microsatellite not provided [RCV003152061] Chr9:2039858..2039860 [GRCh38]
Chr9:2039858..2039860 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1173+15C>T single nucleotide variant not provided [RCV002842636] Chr9:2054738 [GRCh38]
Chr9:2054738 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1728C>T (p.Ala576=) single nucleotide variant not provided [RCV002843508] Chr9:2070453 [GRCh38]
Chr9:2070453 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4607A>C (p.Lys1536Thr) single nucleotide variant not provided [RCV003039234] Chr9:2191278 [GRCh38]
Chr9:2191278 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3844T>C (p.Ser1282Pro) single nucleotide variant not provided [RCV002886685] Chr9:2123800 [GRCh38]
Chr9:2123800 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.842C>T (p.Pro281Leu) single nucleotide variant not provided [RCV002760682] Chr9:2047280 [GRCh38]
Chr9:2047280 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2526+16del deletion not provided [RCV002889802] Chr9:2084207 [GRCh38]
Chr9:2084207 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4173C>T (p.Ile1391=) single nucleotide variant not provided [RCV002636921] Chr9:2161877 [GRCh38]
Chr9:2161877 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2471A>G (p.Asn824Ser) single nucleotide variant not provided [RCV002797009] Chr9:2084141 [GRCh38]
Chr9:2084141 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1347+19T>G single nucleotide variant not provided [RCV002571882] Chr9:2056864 [GRCh38]
Chr9:2056864 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1249C>T (p.Arg417Trp) single nucleotide variant not provided [RCV002761070] Chr9:2056747 [GRCh38]
Chr9:2056747 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2232C>T (p.Asn744=) single nucleotide variant SMARCA2-related condition [RCV003963347]|not provided [RCV002780415] Chr9:2081879 [GRCh38]
Chr9:2081879 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.799C>T (p.Pro267Ser) single nucleotide variant Inborn genetic diseases [RCV002822701] Chr9:2047237 [GRCh38]
Chr9:2047237 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2475C>A (p.Val825=) single nucleotide variant not provided [RCV002637297] Chr9:2084145 [GRCh38]
Chr9:2084145 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4595-1G>C single nucleotide variant not provided [RCV002847593] Chr9:2191265 [GRCh38]
Chr9:2191265 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4461+13_4461+17del deletion not provided [RCV003079303] Chr9:2182252..2182256 [GRCh38]
Chr9:2182252..2182256 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.9G>A (p.Thr3=) single nucleotide variant not provided [RCV002619549] Chr9:2029031 [GRCh38]
Chr9:2029031 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1047-17T>C single nucleotide variant not provided [RCV003053669] Chr9:2054580 [GRCh38]
Chr9:2054580 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3228A>G (p.Thr1076=) single nucleotide variant not provided [RCV002591093] Chr9:2104105 [GRCh38]
Chr9:2104105 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.832C>A (p.Leu278Met) single nucleotide variant not provided [RCV002638706] Chr9:2047270 [GRCh38]
Chr9:2047270 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1047-13T>C single nucleotide variant not provided [RCV002570034] Chr9:2054584 [GRCh38]
Chr9:2054584 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4570G>C (p.Asp1524His) single nucleotide variant Inborn genetic diseases [RCV002704512] Chr9:2186204 [GRCh38]
Chr9:2186204 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1522-17T>C single nucleotide variant not provided [RCV002909597] Chr9:2060799 [GRCh38]
Chr9:2060799 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4431C>T (p.Asn1477=) single nucleotide variant not provided [RCV002569887] Chr9:2182212 [GRCh38]
Chr9:2182212 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.304C>A (p.Pro102Thr) single nucleotide variant not provided [RCV002662595] Chr9:2033030 [GRCh38]
Chr9:2033030 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2643G>C (p.Gly881=) single nucleotide variant not provided [RCV002591166] Chr9:2086945 [GRCh38]
Chr9:2086945 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3579C>T (p.Asn1193=) single nucleotide variant not provided [RCV003080743] Chr9:2115944 [GRCh38]
Chr9:2115944 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.869_952del (p.Ala290_Pro317del) deletion not provided [RCV002927033] Chr9:2047296..2047379 [GRCh38]
Chr9:2047296..2047379 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.850_873dup (p.Pro291_Pro292insGlyGlyArgProSerProAlaPro) duplication not provided [RCV002638315] Chr9:2047277..2047278 [GRCh38]
Chr9:2047277..2047278 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1692+10C>G single nucleotide variant not provided [RCV002619724] Chr9:2060996 [GRCh38]
Chr9:2060996 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2109C>G (p.Thr703=) single nucleotide variant not provided [RCV003036670] Chr9:2077701 [GRCh38]
Chr9:2077701 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.143C>G (p.Pro48Arg) single nucleotide variant not provided [RCV002509972] Chr9:2029165 [GRCh38]
Chr9:2029165 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2877C>T (p.Pro959=) single nucleotide variant not provided [RCV002619624] Chr9:2088607 [GRCh38]
Chr9:2088607 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.337A>C (p.Met113Leu) single nucleotide variant not provided [RCV002593685] Chr9:2033063 [GRCh38]
Chr9:2033063 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4254-15T>G single nucleotide variant not provided [RCV002805916] Chr9:2181556 [GRCh38]
Chr9:2181556 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.821C>A (p.Thr274Asn) single nucleotide variant Inborn genetic diseases [RCV002827748] Chr9:2047259 [GRCh38]
Chr9:2047259 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4548C>T (p.Ser1516=) single nucleotide variant not provided [RCV002765411] Chr9:2186182 [GRCh38]
Chr9:2186182 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3982-6G>A single nucleotide variant not provided [RCV002742042] Chr9:2161680 [GRCh38]
Chr9:2161680 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4564G>C (p.Glu1522Gln) single nucleotide variant not provided [RCV002711093] Chr9:2186198 [GRCh38]
Chr9:2186198 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3137A>T (p.Tyr1046Phe) single nucleotide variant not provided [RCV002626609] Chr9:2104014 [GRCh38]
Chr9:2104014 [GRCh37]
Chr9:9p24.3		 benign|uncertain significance
NM_003070.5(SMARCA2):c.3457-12C>T single nucleotide variant not provided [RCV002625495] Chr9:2115810 [GRCh38]
Chr9:2115810 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2398G>A (p.Val800Met) single nucleotide variant not provided [RCV003042186] Chr9:2083396 [GRCh38]
Chr9:2083396 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3293-13del deletion not provided [RCV002572535] Chr9:2110241 [GRCh38]
Chr9:2110241 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2770-3C>T single nucleotide variant not provided [RCV002954194] Chr9:2088497 [GRCh38]
Chr9:2088497 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1936-13G>T single nucleotide variant not provided [RCV002574302] Chr9:2076216 [GRCh38]
Chr9:2076216 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.731C>T (p.Pro244Leu) single nucleotide variant Inborn genetic diseases [RCV002709214] Chr9:2039841 [GRCh38]
Chr9:2039841 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.836C>G (p.Pro279Arg) single nucleotide variant not provided [RCV003008076] Chr9:2047274 [GRCh38]
Chr9:2047274 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2349-19T>G single nucleotide variant not provided [RCV002667415] Chr9:2083328 [GRCh38]
Chr9:2083328 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3213T>C (p.Leu1071=) single nucleotide variant not provided [RCV002928674] Chr9:2104090 [GRCh38]
Chr9:2104090 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4294_4330dup (p.Arg1444delinsIleLysGluArgIleThrArgIleLeuTer) duplication not provided [RCV002919069] Chr9:2181610..2181611 [GRCh38]
Chr9:2181610..2181611 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.8C>T (p.Thr3Met) single nucleotide variant Inborn genetic diseases [RCV002742350] Chr9:2029030 [GRCh38]
Chr9:2029030 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2992-19C>A single nucleotide variant not provided [RCV002800622] Chr9:2097366 [GRCh38]
Chr9:2097366 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4734A>T (p.Glu1578Asp) single nucleotide variant not provided [RCV002572972] Chr9:2191405 [GRCh38]
Chr9:2191405 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3685-9T>C single nucleotide variant not provided [RCV002593529] Chr9:2119449 [GRCh38]
Chr9:2119449 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4254-20T>C single nucleotide variant not provided [RCV002625650] Chr9:2181551 [GRCh38]
Chr9:2181551 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3207G>A (p.Val1069=) single nucleotide variant not provided [RCV003042764] Chr9:2104084 [GRCh38]
Chr9:2104084 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4735C>T (p.Arg1579Cys) single nucleotide variant not provided [RCV002800780] Chr9:2191406 [GRCh38]
Chr9:2191406 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2598C>T (p.Val866=) single nucleotide variant not provided [RCV002851440] Chr9:2086900 [GRCh38]
Chr9:2086900 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4253+12T>C single nucleotide variant not provided [RCV002790309] Chr9:2170484 [GRCh38]
Chr9:2170484 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1747-9C>T single nucleotide variant not provided [RCV002917165] Chr9:2073203 [GRCh38]
Chr9:2073203 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2332A>C (p.Ile778Leu) single nucleotide variant Inborn genetic diseases [RCV002892964] Chr9:2081979 [GRCh38]
Chr9:2081979 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.873_890del (p.Gln296_Ala301del) deletion not provided [RCV002894111] Chr9:2047308..2047325 [GRCh38]
Chr9:2047308..2047325 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3192G>T (p.Ala1064=) single nucleotide variant not provided [RCV002596083] Chr9:2104069 [GRCh38]
Chr9:2104069 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.871C>T (p.Pro291Ser) single nucleotide variant Inborn genetic diseases [RCV002594827]|not provided [RCV002594828] Chr9:2047309 [GRCh38]
Chr9:2047309 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2265G>C (p.Lys755Asn) single nucleotide variant not provided [RCV002876217] Chr9:2081912 [GRCh38]
Chr9:2081912 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.4359+5A>G single nucleotide variant not provided [RCV002741496] Chr9:2181681 [GRCh38]
Chr9:2181681 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2770-13G>A single nucleotide variant not provided [RCV003041118] Chr9:2088487 [GRCh38]
Chr9:2088487 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2185-8C>T single nucleotide variant not provided [RCV002666601] Chr9:2081824 [GRCh38]
Chr9:2081824 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1736C>T (p.Pro579Leu) single nucleotide variant not provided [RCV002643780] Chr9:2070461 [GRCh38]
Chr9:2070461 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4384C>G (p.Arg1462Gly) single nucleotide variant not provided [RCV002898910] Chr9:2182165 [GRCh38]
Chr9:2182165 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.500C>G (p.Pro167Arg) single nucleotide variant Inborn genetic diseases [RCV002900717] Chr9:2039610 [GRCh38]
Chr9:2039610 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2551G>A (p.Asp851Asn) single nucleotide variant not provided [RCV003031848] Chr9:2086853 [GRCh38]
Chr9:2086853 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.3579C>A (p.Asn1193Lys) single nucleotide variant not provided [RCV003030793] Chr9:2115944 [GRCh38]
Chr9:2115944 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3201C>T (p.His1067=) single nucleotide variant not provided [RCV003011568] Chr9:2104078 [GRCh38]
Chr9:2104078 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4081G>A (p.Val1361Met) single nucleotide variant not provided [RCV002676531] Chr9:2161785 [GRCh38]
Chr9:2161785 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4347C>T (p.Phe1449=) single nucleotide variant not provided [RCV002720234] Chr9:2181664 [GRCh38]
Chr9:2181664 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1374T>C (p.His458=) single nucleotide variant not provided [RCV002630373] Chr9:2058317 [GRCh38]
Chr9:2058317 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.876C>G (p.Pro292=) single nucleotide variant not provided [RCV002632166] Chr9:2047314 [GRCh38]
Chr9:2047314 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1569C>G (p.Asp523Glu) single nucleotide variant not provided [RCV003026339] Chr9:2060863 [GRCh38]
Chr9:2060863 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4549_4557del (p.Asn1517_Glu1519del) deletion not provided [RCV002671650] Chr9:2186183..2186191 [GRCh38]
Chr9:2186183..2186191 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4067C>T (p.Pro1356Leu) single nucleotide variant not provided [RCV002720446] Chr9:2161771 [GRCh38]
Chr9:2161771 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4685A>T (p.Lys1562Ile) single nucleotide variant Inborn genetic diseases [RCV002719481] Chr9:2191356 [GRCh38]
Chr9:2191356 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.228C>T (p.Pro76=) single nucleotide variant not provided [RCV002628423] Chr9:2032954 [GRCh38]
Chr9:2032954 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2553C>T (p.Asp851=) single nucleotide variant not provided [RCV002647495] Chr9:2086855 [GRCh38]
Chr9:2086855 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.225+12T>C single nucleotide variant not provided [RCV002832979] Chr9:2029259 [GRCh38]
Chr9:2029259 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4527G>C (p.Glu1509Asp) single nucleotide variant Inborn genetic diseases [RCV002702509] Chr9:2186161 [GRCh38]
Chr9:2186161 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3303G>C (p.Lys1101Asn) single nucleotide variant not provided [RCV002835094] Chr9:2110264 [GRCh38]
Chr9:2110264 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2009C>G (p.Ser670Cys) single nucleotide variant not provided [RCV002834719] Chr9:2076302 [GRCh38]
Chr9:2076302 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1693-18G>A single nucleotide variant not provided [RCV002578635] Chr9:2070400 [GRCh38]
Chr9:2070400 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1878-7T>G single nucleotide variant not provided [RCV002834902] Chr9:2073559 [GRCh38]
Chr9:2073559 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4488G>C (p.Gln1496His) single nucleotide variant not provided [RCV002649275] Chr9:2186122 [GRCh38]
Chr9:2186122 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1917T>C (p.Asp639=) single nucleotide variant not provided [RCV002577699] Chr9:2073605 [GRCh38]
Chr9:2073605 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2476C>G (p.Leu826Val) single nucleotide variant not provided [RCV003026340] Chr9:2084146 [GRCh38]
Chr9:2084146 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3894A>G (p.Glu1298=) single nucleotide variant not provided [RCV003045034] Chr9:2123850 [GRCh38]
Chr9:2123850 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2100C>G (p.Ser700=) single nucleotide variant not provided [RCV002720299] Chr9:2077692 [GRCh38]
Chr9:2077692 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.31C>T (p.Pro11Ser) single nucleotide variant not provided [RCV002598994] Chr9:2029053 [GRCh38]
Chr9:2029053 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2212C>T (p.Leu738=) single nucleotide variant not provided [RCV002602016] Chr9:2081859 [GRCh38]
Chr9:2081859 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1830A>G (p.Glu610=) single nucleotide variant not provided [RCV002578845] Chr9:2073295 [GRCh38]
Chr9:2073295 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.807G>C (p.Leu269=) single nucleotide variant not provided [RCV003060046] Chr9:2047245 [GRCh38]
Chr9:2047245 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2401A>G (p.Lys801Glu) single nucleotide variant not provided [RCV002833092] Chr9:2083399 [GRCh38]
Chr9:2083399 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1212G>A (p.Thr404=) single nucleotide variant not provided [RCV003087679] Chr9:2056710 [GRCh38]
Chr9:2056710 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4149G>A (p.Leu1383=) single nucleotide variant not provided [RCV003048692] Chr9:2161853 [GRCh38]
Chr9:2161853 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1746+11G>A single nucleotide variant not provided [RCV002601882] Chr9:2070482 [GRCh38]
Chr9:2070482 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4223G>A (p.Ser1408Asn) single nucleotide variant not provided [RCV002577624] Chr9:2170442 [GRCh38]
Chr9:2170442 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1426C>G (p.Leu476Val) single nucleotide variant not provided [RCV003092920] Chr9:2058369 [GRCh38]
Chr9:2058369 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2884-4G>A single nucleotide variant SMARCA2-related condition [RCV003916733]|not provided [RCV003067760] Chr9:2096653 [GRCh38]
Chr9:2096653 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4254-4A>G single nucleotide variant not provided [RCV002603862] Chr9:2181567 [GRCh38]
Chr9:2181567 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2109C>T (p.Thr703=) single nucleotide variant not provided [RCV002583260] Chr9:2077701 [GRCh38]
Chr9:2077701 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.289A>G (p.Thr97Ala) single nucleotide variant not provided [RCV002605456] Chr9:2033015 [GRCh38]
Chr9:2033015 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2812C>T (p.Leu938=) single nucleotide variant not provided [RCV002608324] Chr9:2088542 [GRCh38]
Chr9:2088542 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1353C>T (p.Tyr451=) single nucleotide variant not provided [RCV002587612] Chr9:2058296 [GRCh38]
Chr9:2058296 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2151C>T (p.Ala717=) single nucleotide variant not provided [RCV002726127] Chr9:2077743 [GRCh38]
Chr9:2077743 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3837G>A (p.Glu1279=) single nucleotide variant not provided [RCV002654156] Chr9:2123793 [GRCh38]
Chr9:2123793 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2343C>T (p.Pro781=) single nucleotide variant not provided [RCV002942519] Chr9:2081990 [GRCh38]
Chr9:2081990 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3706G>A (p.Asp1236Asn) single nucleotide variant Inborn genetic diseases [RCV002724134] Chr9:2119479 [GRCh38]
Chr9:2119479 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3125+13T>C single nucleotide variant not provided [RCV002605211] Chr9:2101629 [GRCh38]
Chr9:2101629 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3684+10A>T single nucleotide variant not provided [RCV002610196] Chr9:2116059 [GRCh38]
Chr9:2116059 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1388A>G (p.Lys463Arg) single nucleotide variant not provided [RCV002583298] Chr9:2058331 [GRCh38]
Chr9:2058331 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2052C>T (p.Asp684=) single nucleotide variant not provided [RCV002585357] Chr9:2077644 [GRCh38]
Chr9:2077644 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3125+21del deletion not provided [RCV002658029] Chr9:2101629 [GRCh38]
Chr9:2101629 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.804G>C (p.Glu268Asp) single nucleotide variant not provided [RCV003069699] Chr9:2047242 [GRCh38]
Chr9:2047242 [GRCh37]
Chr9:9p24.3		 benign|uncertain significance
NM_003070.5(SMARCA2):c.923C>G (p.Pro308Arg) single nucleotide variant not provided [RCV002607139] Chr9:2047361 [GRCh38]
Chr9:2047361 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1174-8C>T single nucleotide variant not provided [RCV002609334] Chr9:2056664 [GRCh38]
Chr9:2056664 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.51G>A (p.Pro17=) single nucleotide variant not provided [RCV002611352] Chr9:2029073 [GRCh38]
Chr9:2029073 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.183G>T (p.Gly61=) single nucleotide variant not provided [RCV002815018] Chr9:2029205 [GRCh38]
Chr9:2029205 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4253+18A>G single nucleotide variant not provided [RCV002587634] Chr9:2170490 [GRCh38]
Chr9:2170490 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2055G>T (p.Val685=) single nucleotide variant not provided [RCV002653780] Chr9:2077647 [GRCh38]
Chr9:2077647 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.891G>T (p.Pro297=) single nucleotide variant not provided [RCV002612777] Chr9:2047329 [GRCh38]
Chr9:2047329 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4295_4296insCAAGGAAAGAATTAC (p.Ser1432_Arg1433insLysGluArgIleThr) insertion Nicolaides-Baraitser syndrome [RCV003224736] Chr9:2181611..2181612 [GRCh38]
Chr9:2181611..2181612 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.782G>C (p.Arg261Thr) single nucleotide variant not provided [RCV003221655] Chr9:2039892 [GRCh38]
Chr9:2039892 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.669delinsACAGCAGCAGCAA (p.Gln238_Pro239insGlnGlnGlnGln) indel not provided [RCV003229383] Chr9:2039779 [GRCh38]
Chr9:2039779 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1347+16dup duplication Nicolaides-Baraitser syndrome [RCV003140629] Chr9:2056858..2056859 [GRCh38]
Chr9:2056858..2056859 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3887G>A (p.Cys1296Tyr) single nucleotide variant not provided [RCV003136883] Chr9:2123843 [GRCh38]
Chr9:2123843 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4548_4556dup (p.Glu1518_Glu1519insAspAsnGlu) duplication not provided [RCV003136882] Chr9:2186181..2186182 [GRCh38]
Chr9:2186181..2186182 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.463G>T (p.Ala155Ser) single nucleotide variant not provided [RCV003136881] Chr9:2039573 [GRCh38]
Chr9:2039573 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3368T>G (p.Leu1123Trp) single nucleotide variant not provided [RCV003136880] Chr9:2110329 [GRCh38]
Chr9:2110329 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.751C>A (p.Gln251Lys) single nucleotide variant not provided [RCV003136879] Chr9:2039861 [GRCh38]
Chr9:2039861 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.248A>C (p.Lys83Thr) single nucleotide variant not provided [RCV003136878] Chr9:2032974 [GRCh38]
Chr9:2032974 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1804A>G (p.Thr602Ala) single nucleotide variant not provided [RCV003136877] Chr9:2073269 [GRCh38]
Chr9:2073269 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4148T>C (p.Leu1383Pro) single nucleotide variant not provided [RCV003136876] Chr9:2161852 [GRCh38]
Chr9:2161852 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1952C>A (p.Ser651Tyr) single nucleotide variant not provided [RCV003136875] Chr9:2076245 [GRCh38]
Chr9:2076245 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1489C>A (p.Arg497=) single nucleotide variant not provided [RCV003136874] Chr9:2058432 [GRCh38]
Chr9:2058432 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3169C>T (p.Arg1057Cys) single nucleotide variant not provided [RCV003136873] Chr9:2104046 [GRCh38]
Chr9:2104046 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4199+8_4199+9delinsAG indel not provided [RCV003136872] Chr9:2161911..2161912 [GRCh38]
Chr9:2161911..2161912 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3134T>C (p.Leu1045Pro) single nucleotide variant not provided [RCV003136871] Chr9:2104011 [GRCh38]
Chr9:2104011 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1488G>C (p.Glu496Asp) single nucleotide variant not provided [RCV003136870] Chr9:2058431 [GRCh38]
Chr9:2058431 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1014C>A (p.Asp338Glu) single nucleotide variant not provided [RCV003223976] Chr9:2047452 [GRCh38]
Chr9:2047452 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1608T>A (p.Tyr536Ter) single nucleotide variant not provided [RCV003227201] Chr9:2060902 [GRCh38]
Chr9:2060902 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4688C>T (p.Ala1563Val) single nucleotide variant Inborn genetic diseases [RCV003201062] Chr9:2191359 [GRCh38]
Chr9:2191359 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.677_678insACAGCA (p.Gln238_Pro239insGlnGln) insertion not provided [RCV003227197] Chr9:2039782..2039783 [GRCh38]
Chr9:2039782..2039783 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4591G>A (p.Glu1531Lys) single nucleotide variant not provided [RCV003322166] Chr9:2186225 [GRCh38]
Chr9:2186225 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2431C>T (p.Arg811Cys) single nucleotide variant Nicolaides-Baraitser syndrome [RCV003319598] Chr9:2084101 [GRCh38]
Chr9:2084101 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.472C>T (p.Pro158Ser) single nucleotide variant not provided [RCV003319022] Chr9:2039582 [GRCh38]
Chr9:2039582 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1358A>G (p.Asn453Ser) single nucleotide variant not provided [RCV003318911] Chr9:2058301 [GRCh38]
Chr9:2058301 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.910G>T (p.Gly304Trp) single nucleotide variant not provided [RCV003325781] Chr9:2047348 [GRCh38]
Chr9:2047348 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.373C>T (p.Pro125Ser) single nucleotide variant not provided [RCV003328838] Chr9:2039483 [GRCh38]
Chr9:2039483 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4560GGAAGA[1] (p.Glu1522_Glu1523del) microsatellite not provided [RCV003327208] Chr9:2186192..2186197 [GRCh38]
Chr9:2186192..2186197 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2604C>T (p.Asn868=) single nucleotide variant not provided [RCV003327207] Chr9:2086906 [GRCh38]
Chr9:2086906 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4377T>A (p.His1459Gln) single nucleotide variant not provided [RCV003329709] Chr9:2182158 [GRCh38]
Chr9:2182158 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3655G>C (p.Ala1219Pro) single nucleotide variant Nicolaides-Baraitser syndrome [RCV003330159] Chr9:2116020 [GRCh38]
Chr9:2116020 [GRCh37]
Chr9:9p24.3		 pathogenic
NM_003070.5(SMARCA2):c.1258C>T (p.Arg420Cys) single nucleotide variant Nicolaides-Baraitser syndrome [RCV003329105] Chr9:2056756 [GRCh38]
Chr9:2056756 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.875C>T (p.Pro292Leu) single nucleotide variant Nicolaides-Baraitser syndrome [RCV003338046]|not provided [RCV003427740] Chr9:2047313 [GRCh38]
Chr9:2047313 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.707_715dup (p.Gln238_Pro239insGlnGlnGln) duplication not specified [RCV003331749] Chr9:2039809..2039810 [GRCh38]
Chr9:2039809..2039810 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4411G>A (p.Val1471Ile) single nucleotide variant Inborn genetic diseases [RCV003373689] Chr9:2182192 [GRCh38]
Chr9:2182192 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.-37+1G>T single nucleotide variant Blepharophimosis-impaired intellectual development syndrome [RCV003333660]|Nicolaides-Baraitser syndrome [RCV003333659] Chr9:2015405 [GRCh38]
Chr9:2015405 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3785G>C (p.Arg1262Thr) single nucleotide variant not provided [RCV003570153] Chr9:2123741 [GRCh38]
Chr9:2123741 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3034T>C (p.Leu1012=) single nucleotide variant not provided [RCV003571598] Chr9:2097427 [GRCh38]
Chr9:2097427 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4116C>T (p.Pro1372=) single nucleotide variant not provided [RCV003543870] Chr9:2161820 [GRCh38]
Chr9:2161820 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4560GGAAGA[3] (p.Glu1523_Asp1524insGluGlu) microsatellite not provided [RCV003481902] Chr9:2186191..2186192 [GRCh38]
Chr9:2186191..2186192 [GRCh37]
Chr9:9p24.3		 uncertain significance
GRCh37/hg19 9p24.3(chr9:1894473-2017932)x1 copy number loss not provided [RCV003483048] Chr9:1894473..2017932 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.761C>T (p.Pro254Leu) single nucleotide variant not provided [RCV003425599] Chr9:2039871 [GRCh38]
Chr9:2039871 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1968C>T (p.Thr656=) single nucleotide variant not provided [RCV003435685] Chr9:2076261 [GRCh38]
Chr9:2076261 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-24.2(chr9:2084116-2582828)x1 copy number loss not provided [RCV003483051] Chr9:2084116..2582828 [GRCh37]
Chr9:9p24.3-24.2		 uncertain significance
NM_003070.5(SMARCA2):c.193T>C (p.Phe65Leu) single nucleotide variant not provided [RCV003435681] Chr9:2029215 [GRCh38]
Chr9:2029215 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1571G>A (p.Arg524Lys) single nucleotide variant SMARCA2-related condition [RCV003427957]|not provided [RCV003679205] Chr9:2060865 [GRCh38]
Chr9:2060865 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.846G>T (p.Ala282=) single nucleotide variant not provided [RCV003435683] Chr9:2047284 [GRCh38]
Chr9:2047284 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3661T>C (p.Leu1221=) single nucleotide variant not provided [RCV003457549] Chr9:2116026 [GRCh38]
Chr9:2116026 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3457-7C>G single nucleotide variant not provided [RCV003425600] Chr9:2115815 [GRCh38]
Chr9:2115815 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3982-1108A>G single nucleotide variant not provided [RCV003435686] Chr9:2160578 [GRCh38]
Chr9:2160578 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1758G>C (p.Glu586Asp) single nucleotide variant not provided [RCV003435684] Chr9:2073223 [GRCh38]
Chr9:2073223 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1881T>A (p.Tyr627Ter) single nucleotide variant not provided [RCV003441204] Chr9:2073569 [GRCh38]
Chr9:2073569 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2290A>G (p.Thr764Ala) single nucleotide variant Nicolaides-Baraitser syndrome [RCV003412571] Chr9:2081937 [GRCh38]
Chr9:2081937 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.195C>G (p.Phe65Leu) single nucleotide variant SMARCA2-related condition [RCV003427813] Chr9:2029217 [GRCh38]
Chr9:2029217 [GRCh37]
Chr9:9p24.3		 uncertain significance
Single allele deletion not provided [RCV003448696] Chr9:204064..16456192 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
NM_003070.5(SMARCA2):c.2566A>G (p.Met856Val) single nucleotide variant Nicolaides-Baraitser syndrome [RCV003444037] Chr9:2086868 [GRCh38]
Chr9:2086868 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.229A>G (p.Ile77Val) single nucleotide variant not provided [RCV003425598] Chr9:2032955 [GRCh38]
Chr9:2032955 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.811G>C (p.Gly271Arg) single nucleotide variant not provided [RCV003435682] Chr9:2047249 [GRCh38]
Chr9:2047249 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2844G>T (p.Arg948Ser) single nucleotide variant not specified [RCV003404735] Chr9:2088574 [GRCh38]
Chr9:2088574 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3982-3795G>A single nucleotide variant SMARCA2-related condition [RCV003410872] Chr9:2157891 [GRCh38]
Chr9:2157891 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2295T>C (p.Tyr765=) single nucleotide variant not provided [RCV003831552] Chr9:2081942 [GRCh38]
Chr9:2081942 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4644C>T (p.Gly1548=) single nucleotide variant not provided [RCV003660084] Chr9:2191315 [GRCh38]
Chr9:2191315 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1018G>T (p.Val340Leu) single nucleotide variant not provided [RCV003491526] Chr9:2047456 [GRCh38]
Chr9:2047456 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2736G>T (p.Trp912Cys) single nucleotide variant Nicolaides-Baraitser syndrome [RCV003529921] Chr9:2087038 [GRCh38]
Chr9:2087038 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.310C>T (p.Pro104Ser) single nucleotide variant not provided [RCV003696073] Chr9:2033036 [GRCh38]
Chr9:2033036 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4196A>G (p.Asp1399Gly) single nucleotide variant not provided [RCV003576738] Chr9:2161900 [GRCh38]
Chr9:2161900 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3918G>A (p.Arg1306=) single nucleotide variant not provided [RCV003739984] Chr9:2123874 [GRCh38]
Chr9:2123874 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4360-9T>A single nucleotide variant not provided [RCV003545503] Chr9:2182132 [GRCh38]
Chr9:2182132 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2010T>C (p.Ser670=) single nucleotide variant not provided [RCV003577628] Chr9:2076303 [GRCh38]
Chr9:2076303 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1156C>G (p.Leu386Val) single nucleotide variant not provided [RCV003695447] Chr9:2054706 [GRCh38]
Chr9:2054706 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1967C>T (p.Thr656Ile) single nucleotide variant not provided [RCV003659669] Chr9:2076260 [GRCh38]
Chr9:2076260 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2569A>G (p.Lys857Glu) single nucleotide variant not provided [RCV003572961] Chr9:2086871 [GRCh38]
Chr9:2086871 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4281_4296dup (p.Arg1433fs) duplication not provided [RCV003491525] Chr9:2181597..2181598 [GRCh38]
Chr9:2181597..2181598 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1935+11A>G single nucleotide variant not provided [RCV003575246] Chr9:2073634 [GRCh38]
Chr9:2073634 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1347+4C>T single nucleotide variant not provided [RCV003661414] Chr9:2056849 [GRCh38]
Chr9:2056849 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4243G>A (p.Glu1415Lys) single nucleotide variant not provided [RCV003716385] Chr9:2170462 [GRCh38]
Chr9:2170462 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.104C>T (p.Pro35Leu) single nucleotide variant not provided [RCV003546416] Chr9:2029126 [GRCh38]
Chr9:2029126 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3528C>G (p.Thr1176=) single nucleotide variant not provided [RCV003824714] Chr9:2115893 [GRCh38]
Chr9:2115893 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1936-10C>T single nucleotide variant not provided [RCV003826014] Chr9:2076219 [GRCh38]
Chr9:2076219 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3126-9dup duplication not provided [RCV003881317] Chr9:2103987..2103988 [GRCh38]
Chr9:2103987..2103988 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2004A>G (p.Glu668=) single nucleotide variant not provided [RCV003578461] Chr9:2076297 [GRCh38]
Chr9:2076297 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.305C>A (p.Pro102His) single nucleotide variant not provided [RCV003738924] Chr9:2033031 [GRCh38]
Chr9:2033031 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3770A>C (p.Asp1257Ala) single nucleotide variant not provided [RCV003572028] Chr9:2123726 [GRCh38]
Chr9:2123726 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3293-11G>C single nucleotide variant not provided [RCV003826455] Chr9:2110243 [GRCh38]
Chr9:2110243 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2595G>A (p.Gln865=) single nucleotide variant not provided [RCV003878898] Chr9:2086897 [GRCh38]
Chr9:2086897 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2355A>G (p.Leu785=) single nucleotide variant not provided [RCV003660746] Chr9:2083353 [GRCh38]
Chr9:2083353 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4583C>T (p.Ser1528Leu) single nucleotide variant not provided [RCV003831167] Chr9:2186217 [GRCh38]
Chr9:2186217 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1692+4C>G single nucleotide variant not provided [RCV003660096] Chr9:2060990 [GRCh38]
Chr9:2060990 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2348+12C>T single nucleotide variant not provided [RCV003691011] Chr9:2082007 [GRCh38]
Chr9:2082007 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3988G>A (p.Glu1330Lys) single nucleotide variant not provided [RCV003660367] Chr9:2161692 [GRCh38]
Chr9:2161692 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1174-7T>C single nucleotide variant not provided [RCV003663554] Chr9:2056665 [GRCh38]
Chr9:2056665 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1849C>T (p.Leu617=) single nucleotide variant not provided [RCV003660409] Chr9:2073314 [GRCh38]
Chr9:2073314 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4253+6G>A single nucleotide variant not provided [RCV003546348] Chr9:2170478 [GRCh38]
Chr9:2170478 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.3420A>T (p.Thr1140=) single nucleotide variant not provided [RCV003712752] Chr9:2110381 [GRCh38]
Chr9:2110381 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.810C>T (p.Ser270=) single nucleotide variant not provided [RCV003739759] Chr9:2047248 [GRCh38]
Chr9:2047248 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.27G>A (p.Ala9=) single nucleotide variant not provided [RCV003547760] Chr9:2029049 [GRCh38]
Chr9:2029049 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4395C>G (p.Gly1465=) single nucleotide variant not provided [RCV003575247] Chr9:2182176 [GRCh38]
Chr9:2182176 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1356G>C (p.Leu452=) single nucleotide variant not provided [RCV003688253] Chr9:2058299 [GRCh38]
Chr9:2058299 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2286C>T (p.Leu762=) single nucleotide variant not provided [RCV003878107] Chr9:2081933 [GRCh38]
Chr9:2081933 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.836C>A (p.Pro279Gln) single nucleotide variant not provided [RCV003828659] Chr9:2047274 [GRCh38]
Chr9:2047274 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4359+6T>C single nucleotide variant not provided [RCV003713317] Chr9:2181682 [GRCh38]
Chr9:2181682 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1160A>G (p.Asn387Ser) single nucleotide variant not provided [RCV003575962] Chr9:2054710 [GRCh38]
Chr9:2054710 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1521+9C>G single nucleotide variant not provided [RCV003660316] Chr9:2058473 [GRCh38]
Chr9:2058473 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4603G>A (p.Val1535Ile) single nucleotide variant not provided [RCV003689358] Chr9:2191274 [GRCh38]
Chr9:2191274 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1347+20T>C single nucleotide variant not provided [RCV003661095] Chr9:2056865 [GRCh38]
Chr9:2056865 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2280T>C (p.Ile760=) single nucleotide variant not provided [RCV003878106] Chr9:2081927 [GRCh38]
Chr9:2081927 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1877+7C>T single nucleotide variant not provided [RCV003662624] Chr9:2073349 [GRCh38]
Chr9:2073349 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1746+20T>G single nucleotide variant not provided [RCV003850169] Chr9:2070491 [GRCh38]
Chr9:2070491 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2527-12C>T single nucleotide variant not provided [RCV003664367] Chr9:2086817 [GRCh38]
Chr9:2086817 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1818G>T (p.Leu606=) single nucleotide variant not provided [RCV003811392] Chr9:2073283 [GRCh38]
Chr9:2073283 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3885C>T (p.Thr1295=) single nucleotide variant not provided [RCV003851988] Chr9:2123841 [GRCh38]
Chr9:2123841 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4253+16G>A single nucleotide variant not provided [RCV003852067] Chr9:2170488 [GRCh38]
Chr9:2170488 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3300C>T (p.Thr1100=) single nucleotide variant not provided [RCV003856860] Chr9:2110261 [GRCh38]
Chr9:2110261 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4234T>C (p.Leu1412=) single nucleotide variant not provided [RCV003672004] Chr9:2170453 [GRCh38]
Chr9:2170453 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4737+11C>G single nucleotide variant not provided [RCV003838114] Chr9:2191419 [GRCh38]
Chr9:2191419 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4237G>A (p.Glu1413Lys) single nucleotide variant not provided [RCV003701446] Chr9:2170456 [GRCh38]
Chr9:2170456 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1890C>A (p.Ala630=) single nucleotide variant not provided [RCV003834449] Chr9:2073578 [GRCh38]
Chr9:2073578 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.225+7G>A single nucleotide variant not provided [RCV003696920] Chr9:2029254 [GRCh38]
Chr9:2029254 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.818G>A (p.Ser273Asn) single nucleotide variant not provided [RCV003671442] Chr9:2047256 [GRCh38]
Chr9:2047256 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.77T>C (p.Ile26Thr) single nucleotide variant not provided [RCV003665869] Chr9:2029099 [GRCh38]
Chr9:2029099 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1878-17T>C single nucleotide variant not provided [RCV003674220] Chr9:2073549 [GRCh38]
Chr9:2073549 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4585G>C (p.Glu1529Gln) single nucleotide variant not provided [RCV003838779] Chr9:2186219 [GRCh38]
Chr9:2186219 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3528C>T (p.Thr1176=) single nucleotide variant not provided [RCV003726499] Chr9:2115893 [GRCh38]
Chr9:2115893 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4738-15T>C single nucleotide variant not provided [RCV003837841] Chr9:2192689 [GRCh38]
Chr9:2192689 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1878-4T>A single nucleotide variant not provided [RCV003560541] Chr9:2073562 [GRCh38]
Chr9:2073562 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2400G>T (p.Val800=) single nucleotide variant not provided [RCV003837538] Chr9:2083398 [GRCh38]
Chr9:2083398 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.2955G>C (p.Gly985=) single nucleotide variant not provided [RCV003813826] Chr9:2096728 [GRCh38]
Chr9:2096728 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.841C>A (p.Pro281Thr) single nucleotide variant not provided [RCV003698356] Chr9:2047279 [GRCh38]
Chr9:2047279 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2078A>G (p.Tyr693Cys) single nucleotide variant not provided [RCV003670910] Chr9:2077670 [GRCh38]
Chr9:2077670 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3644C>T (p.Ala1215Val) single nucleotide variant not provided [RCV003669006] Chr9:2116009 [GRCh38]
Chr9:2116009 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1173+8A>G single nucleotide variant not provided [RCV003702925] Chr9:2054731 [GRCh38]
Chr9:2054731 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.791-19dup duplication not provided [RCV003560335] Chr9:2047209..2047210 [GRCh38]
Chr9:2047209..2047210 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4738-14_4738-11dup duplication not provided [RCV003840259] Chr9:2192687..2192688 [GRCh38]
Chr9:2192687..2192688 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1521+15G>T single nucleotide variant not provided [RCV003854376] Chr9:2058479 [GRCh38]
Chr9:2058479 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1878-19C>T single nucleotide variant not provided [RCV003839007] Chr9:2073547 [GRCh38]
Chr9:2073547 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4045C>G (p.Arg1349Gly) single nucleotide variant not provided [RCV003549949] Chr9:2161749 [GRCh38]
Chr9:2161749 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1935+13C>T single nucleotide variant not provided [RCV003699816] Chr9:2073636 [GRCh38]
Chr9:2073636 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2019T>C (p.Asp673=) single nucleotide variant not provided [RCV003836817] Chr9:2076312 [GRCh38]
Chr9:2076312 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.53G>A (p.Gly18Glu) single nucleotide variant not provided [RCV003580630] Chr9:2029075 [GRCh38]
Chr9:2029075 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4239A>G (p.Glu1413=) single nucleotide variant not provided [RCV003812069] Chr9:2170458 [GRCh38]
Chr9:2170458 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1692+12_1692+13delinsGT indel not provided [RCV003851183] Chr9:2060998..2060999 [GRCh38]
Chr9:2060998..2060999 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1692+20T>C single nucleotide variant not provided [RCV003851184] Chr9:2061006 [GRCh38]
Chr9:2061006 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2991+9C>T single nucleotide variant not provided [RCV003717639] Chr9:2096773 [GRCh38]
Chr9:2096773 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4594+17G>A single nucleotide variant not provided [RCV003838538] Chr9:2186245 [GRCh38]
Chr9:2186245 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4738-12T>C single nucleotide variant not provided [RCV003816058] Chr9:2192692 [GRCh38]
Chr9:2192692 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.189A>C (p.Thr63=) single nucleotide variant not provided [RCV003671449] Chr9:2029211 [GRCh38]
Chr9:2029211 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4760C>T (p.Thr1587Met) single nucleotide variant not provided [RCV003851918] Chr9:2192726 [GRCh38]
Chr9:2192726 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3705C>T (p.Asp1235=) single nucleotide variant not provided [RCV003833540] Chr9:2119478 [GRCh38]
Chr9:2119478 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2526+11A>G single nucleotide variant not provided [RCV003855204] Chr9:2084207 [GRCh38]
Chr9:2084207 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3457-16T>C single nucleotide variant not provided [RCV003664574] Chr9:2115806 [GRCh38]
Chr9:2115806 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2306A>G (p.His769Arg) single nucleotide variant not provided [RCV003542948] Chr9:2081953 [GRCh38]
Chr9:2081953 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1312A>G (p.Ile438Val) single nucleotide variant not provided [RCV003556521] Chr9:2056810 [GRCh38]
Chr9:2056810 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1106C>T (p.Pro369Leu) single nucleotide variant not provided [RCV003706241] Chr9:2054656 [GRCh38]
Chr9:2054656 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.4758G>T (p.Gly1586=) single nucleotide variant not provided [RCV003847772] Chr9:2192724 [GRCh38]
Chr9:2192724 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2526+19A>G single nucleotide variant not provided [RCV003821373] Chr9:2084215 [GRCh38]
Chr9:2084215 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3294C>T (p.Gly1098=) single nucleotide variant not provided [RCV003841404] Chr9:2110255 [GRCh38]
Chr9:2110255 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2068A>G (p.Ser690Gly) single nucleotide variant not provided [RCV003566480] Chr9:2077660 [GRCh38]
Chr9:2077660 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3594G>C (p.Val1198=) single nucleotide variant not provided [RCV003862365] Chr9:2115959 [GRCh38]
Chr9:2115959 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.897G>T (p.Ala299=) single nucleotide variant not provided [RCV003682302] Chr9:2047335 [GRCh38]
Chr9:2047335 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1693-15A>G single nucleotide variant not provided [RCV003710776] Chr9:2070403 [GRCh38]
Chr9:2070403 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2991+9C>G single nucleotide variant not provided [RCV003824321] Chr9:2096773 [GRCh38]
Chr9:2096773 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3648C>T (p.Phe1216=) single nucleotide variant not provided [RCV003820679] Chr9:2116013 [GRCh38]
Chr9:2116013 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.238A>G (p.Ile80Val) single nucleotide variant not provided [RCV003844820] Chr9:2032964 [GRCh38]
Chr9:2032964 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1878-8T>C single nucleotide variant not provided [RCV003682175] Chr9:2073558 [GRCh38]
Chr9:2073558 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4296A>G (p.Ser1432=) single nucleotide variant not provided [RCV003685711] Chr9:2181613 [GRCh38]
Chr9:2181613 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1 copy number loss not specified [RCV003986852] Chr9:203862..8548307 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
NM_003070.5(SMARCA2):c.2889A>G (p.Glu963=) single nucleotide variant not provided [RCV003685316] Chr9:2096662 [GRCh38]
Chr9:2096662 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3457-6A>G single nucleotide variant not provided [RCV003863278] Chr9:2115816 [GRCh38]
Chr9:2115816 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1521+8del deletion not provided [RCV003867443] Chr9:2058471 [GRCh38]
Chr9:2058471 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3609G>A (p.Met1203Ile) single nucleotide variant not provided [RCV003721383] Chr9:2115974 [GRCh38]
Chr9:2115974 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1434A>G (p.Lys478=) single nucleotide variant not provided [RCV003847704] Chr9:2058377 [GRCh38]
Chr9:2058377 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1670A>G (p.Lys557Arg) single nucleotide variant not provided [RCV003674955] Chr9:2060964 [GRCh38]
Chr9:2060964 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1692+8T>C single nucleotide variant not provided [RCV003563959] Chr9:2060994 [GRCh38]
Chr9:2060994 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2415+18T>G single nucleotide variant not provided [RCV003854204] Chr9:2083431 [GRCh38]
Chr9:2083431 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3078+9G>A single nucleotide variant not provided [RCV003869965] Chr9:2097480 [GRCh38]
Chr9:2097480 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1 copy number loss not specified [RCV003986809] Chr9:203861..15508556 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
NM_003070.5(SMARCA2):c.2036+17del deletion not provided [RCV003684719] Chr9:2076342 [GRCh38]
Chr9:2076342 [GRCh37]
Chr9:9p24.3		 benign
GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1 copy number loss not specified [RCV003986799] Chr9:203861..19302836 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
NM_003070.5(SMARCA2):c.4205A>T (p.Asn1402Ile) single nucleotide variant not provided [RCV003718994] Chr9:2170424 [GRCh38]
Chr9:2170424 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4635T>C (p.Asp1545=) single nucleotide variant not provided [RCV003686006] Chr9:2191306 [GRCh38]
Chr9:2191306 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3458A>T (p.Asp1153Val) single nucleotide variant not provided [RCV003557275] Chr9:2115823 [GRCh38]
Chr9:2115823 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2027A>T (p.Gln676Leu) single nucleotide variant not provided [RCV003557359] Chr9:2076320 [GRCh38]
Chr9:2076320 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1935+10T>C single nucleotide variant not provided [RCV003734901] Chr9:2073633 [GRCh38]
Chr9:2073633 [GRCh37]
Chr9:9p24.3		 likely benign
GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1 copy number loss not specified [RCV003986818] Chr9:203861..9128400 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_003070.5(SMARCA2):c.2991+4C>T single nucleotide variant not provided [RCV003719665] Chr9:2096768 [GRCh38]
Chr9:2096768 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2814A>G (p.Leu938=) single nucleotide variant not provided [RCV003843020] Chr9:2088544 [GRCh38]
Chr9:2088544 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1046+7C>T single nucleotide variant not provided [RCV003705772] Chr9:2047491 [GRCh38]
Chr9:2047491 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.865C>T (p.Pro289Ser) single nucleotide variant not provided [RCV003707152] Chr9:2047303 [GRCh38]
Chr9:2047303 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.849C>T (p.Pro283=) single nucleotide variant not provided [RCV003708401] Chr9:2047287 [GRCh38]
Chr9:2047287 [GRCh37]
Chr9:9p24.3		 benign
NM_003070.5(SMARCA2):c.1680G>A (p.Arg560=) single nucleotide variant not provided [RCV003823228] Chr9:2060974 [GRCh38]
Chr9:2060974 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1173+10T>A single nucleotide variant not provided [RCV003734835] Chr9:2054733 [GRCh38]
Chr9:2054733 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.134G>C (p.Gly45Ala) single nucleotide variant not provided [RCV003568777] Chr9:2029156 [GRCh38]
Chr9:2029156 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4738-17_4738-15del microsatellite not provided [RCV003678190] Chr9:2192683..2192685 [GRCh38]
Chr9:2192683..2192685 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2550G>T (p.Val850=) single nucleotide variant SMARCA2-related condition [RCV003939241]|not provided [RCV003856884] Chr9:2086852 [GRCh38]
Chr9:2086852 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1821C>T (p.Phe607=) single nucleotide variant not provided [RCV003735642] Chr9:2073286 [GRCh38]
Chr9:2073286 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3125+5A>G single nucleotide variant SMARCA2-related condition [RCV003939063]|not provided [RCV003551626] Chr9:2101621 [GRCh38]
Chr9:2101621 [GRCh37]
Chr9:9p24.3		 likely benign|uncertain significance
NM_003070.5(SMARCA2):c.113G>A (p.Gly38Asp) single nucleotide variant not provided [RCV003562298] Chr9:2029135 [GRCh38]
Chr9:2029135 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.130A>G (p.Met44Val) single nucleotide variant not provided [RCV003843211] Chr9:2029152 [GRCh38]
Chr9:2029152 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4458C>G (p.Ser1486=) single nucleotide variant not provided [RCV003670650] Chr9:2182239 [GRCh38]
Chr9:2182239 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4737+20A>G single nucleotide variant not provided [RCV003542688] Chr9:2191428 [GRCh38]
Chr9:2191428 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2992-13C>T single nucleotide variant not provided [RCV003866094] Chr9:2097372 [GRCh38]
Chr9:2097372 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4644_4655del (p.Arg1549_Gly1552del) deletion not provided [RCV003843377] Chr9:2191307..2191318 [GRCh38]
Chr9:2191307..2191318 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1878-17dup duplication not provided [RCV003675931] Chr9:2073548..2073549 [GRCh38]
Chr9:2073548..2073549 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2478C>T (p.Leu826=) single nucleotide variant not provided [RCV003678292] Chr9:2084148 [GRCh38]
Chr9:2084148 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2415+3T>C single nucleotide variant not provided [RCV003556375] Chr9:2083416 [GRCh38]
Chr9:2083416 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3125+16T>A single nucleotide variant not provided [RCV003846682] Chr9:2101632 [GRCh38]
Chr9:2101632 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2991+5G>A single nucleotide variant not provided [RCV003846661] Chr9:2096769 [GRCh38]
Chr9:2096769 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.208A>T (p.Met70Leu) single nucleotide variant not provided [RCV003843682] Chr9:2029230 [GRCh38]
Chr9:2029230 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.355+10C>T single nucleotide variant not provided [RCV003734226] Chr9:2033091 [GRCh38]
Chr9:2033091 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4737+17G>C single nucleotide variant not provided [RCV003841130] Chr9:2191425 [GRCh38]
Chr9:2191425 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2859A>G (p.Glu953=) single nucleotide variant not provided [RCV003819969] Chr9:2088589 [GRCh38]
Chr9:2088589 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2526+17T>A single nucleotide variant not provided [RCV003563961] Chr9:2084213 [GRCh38]
Chr9:2084213 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.1521+16C>T single nucleotide variant not provided [RCV003566402] Chr9:2058480 [GRCh38]
Chr9:2058480 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.155G>C (p.Ser52Thr) single nucleotide variant not provided [RCV003556628] Chr9:2029177 [GRCh38]
Chr9:2029177 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2992-20C>T single nucleotide variant not provided [RCV003846903] Chr9:2097365 [GRCh38]
Chr9:2097365 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.2341C>T (p.Pro781Ser) single nucleotide variant not provided [RCV003550813] Chr9:2081988 [GRCh38]
Chr9:2081988 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3457-19A>T single nucleotide variant not provided [RCV003679503] Chr9:2115803 [GRCh38]
Chr9:2115803 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.316A>G (p.Met106Val) single nucleotide variant not provided [RCV003819035] Chr9:2033042 [GRCh38]
Chr9:2033042 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4540G>C (p.Asp1514His) single nucleotide variant not provided [RCV003842777] Chr9:2186174 [GRCh38]
Chr9:2186174 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1123A>G (p.Lys375Glu) single nucleotide variant SMARCA2-related condition [RCV003982594] Chr9:2054673 [GRCh38]
Chr9:2054673 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3797G>A (p.Arg1266Gln) single nucleotide variant SMARCA2-related condition [RCV003902288] Chr9:2123753 [GRCh38]
Chr9:2123753 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1776C>A (p.Asp592Glu) single nucleotide variant SMARCA2-related condition [RCV003983332] Chr9:2073241 [GRCh38]
Chr9:2073241 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1726G>A (p.Ala576Thr) single nucleotide variant not provided [RCV003887253] Chr9:2070451 [GRCh38]
Chr9:2070451 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.3101G>A (p.Gly1034Asp) single nucleotide variant SMARCA2-related condition [RCV003906842] Chr9:2101592 [GRCh38]
Chr9:2101592 [GRCh37]
Chr9:9p24.3		 likely pathogenic
NM_003070.5(SMARCA2):c.1692+3G>C single nucleotide variant not specified [RCV003988272] Chr9:2060989 [GRCh38]
Chr9:2060989 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.215A>C (p.Gln72Pro) single nucleotide variant SMARCA2-related condition [RCV003926842] Chr9:2029237 [GRCh38]
Chr9:2029237 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.2827A>C (p.Arg943=) single nucleotide variant not provided [RCV003886690] Chr9:2088557 [GRCh38]
Chr9:2088557 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.762G>A (p.Pro254=) single nucleotide variant SMARCA2-related condition [RCV003904759] Chr9:2039872 [GRCh38]
Chr9:2039872 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.4494G>A (p.Val1498=) single nucleotide variant SMARCA2-related condition [RCV003904511] Chr9:2186128 [GRCh38]
Chr9:2186128 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.876_878del (p.Ala295del) deletion SMARCA2-related condition [RCV003911513] Chr9:2047313..2047315 [GRCh38]
Chr9:2047313..2047315 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.4310C>G (p.Pro1437Arg) single nucleotide variant SMARCA2-related condition [RCV003947271] Chr9:2181627 [GRCh38]
Chr9:2181627 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.826C>T (p.Gln276Ter) single nucleotide variant SMARCA2-related condition [RCV003899603] Chr9:2047264 [GRCh38]
Chr9:2047264 [GRCh37]
Chr9:9p24.3		 uncertain significance
NM_003070.5(SMARCA2):c.1046+5C>A single nucleotide variant SMARCA2-related condition [RCV003902092] Chr9:2047489 [GRCh38]
Chr9:2047489 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.3006T>G (p.Ala1002=) single nucleotide variant SMARCA2-related condition [RCV003902151] Chr9:2097399 [GRCh38]
Chr9:2097399 [GRCh37]
Chr9:9p24.3		 likely benign
NM_003070.5(SMARCA2):c.680A>G (p.Gln227Arg) single nucleotide variant Inborn genetic diseases [RCV003378729] Chr9:2039790 [GRCh38]
Chr9:2039790 [GRCh37]
Chr9:9p24.3		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR199A1hsa-miR-199a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21189327
MIR199A1hsa-miR-199a-5pOncomiRDBexternal_infoNANA21189327
MIR199A1hsa-miR-199a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21189327
MIR199A1hsa-miR-199a-3pOncomiRDBexternal_infoNANA21189327

Predicted Target Of
Summary Value
Count of predictions:4479
Count of miRNA genes:991
Interacting mature miRNAs:1194
Transcripts:ENST00000302401, ENST00000324954, ENST00000349721, ENST00000357248, ENST00000382183, ENST00000382185, ENST00000382186, ENST00000382194, ENST00000382203, ENST00000416751, ENST00000417599, ENST00000423555, ENST00000439732, ENST00000450198, ENST00000452193, ENST00000457226, ENST00000491574
Prediction methods:Microtar, Miranda, 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.

Markers in Region
G17342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,075,477 - 2,075,598UniSTSGRCh37
Build 3692,065,477 - 2,065,598RGDNCBI36
Celera91,993,429 - 1,993,550RGD
Cytogenetic Map9p22.3UniSTS
HuRef92,029,346 - 2,029,467UniSTS
D9S143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,102,099 - 2,102,217UniSTSGRCh37
Build 3692,092,099 - 2,092,217RGDNCBI36
Celera92,020,049 - 2,020,167RGD
Cytogenetic Map9p22.3UniSTS
HuRef92,055,966 - 2,056,082UniSTS
SHGC-148225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,169,954 - 2,170,290UniSTSGRCh37
Build 3692,159,954 - 2,160,290RGDNCBI36
Celera92,087,890 - 2,088,226RGD
Cytogenetic Map9p22.3UniSTS
HuRef92,123,816 - 2,124,152UniSTS
TNG Radiation Hybrid Map91320.0UniSTS
D9S2065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,045,794 - 2,045,937UniSTSGRCh37
Build 3692,035,794 - 2,035,937RGDNCBI36
Celera91,963,748 - 1,963,891RGD
Cytogenetic Map9p22.3UniSTS
HuRef91,999,699 - 1,999,846UniSTS
GeneMap99-G3 RH Map935.0UniSTS
SHGC-156097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,109,526 - 2,109,843UniSTSGRCh37
Build 3692,099,526 - 2,099,843RGDNCBI36
Celera92,027,476 - 2,027,793RGD
Cytogenetic Map9p22.3UniSTS
HuRef92,063,391 - 2,063,708UniSTS
TNG Radiation Hybrid Map91391.0UniSTS
PMC303366P11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,056,719 - 2,056,834UniSTSGRCh37
Build 3692,046,719 - 2,046,834RGDNCBI36
Celera91,974,673 - 1,974,788RGD
Cytogenetic Map9p22.3UniSTS
HuRef92,010,628 - 2,010,743UniSTS
SHGC-12004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,192,962 - 2,193,096UniSTSGRCh37
Build 3692,182,962 - 2,183,096RGDNCBI36
Celera92,110,890 - 2,111,024RGD
Cytogenetic Map9p22.3UniSTS
HuRef92,146,822 - 2,146,956UniSTS
Stanford-G3 RH Map933.0UniSTS
NCBI RH Map919.7UniSTS
GeneMap99-G3 RH Map933.0UniSTS
SMARCA2_2377.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,192,831 - 2,193,474UniSTSGRCh37
Build 3692,182,831 - 2,183,474RGDNCBI36
Celera92,110,759 - 2,111,402RGD
HuRef92,146,691 - 2,147,334UniSTS
WI-19184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,192,770 - 2,193,066UniSTSGRCh37
Build 3692,182,770 - 2,183,066RGDNCBI36
Celera92,110,698 - 2,110,994RGD
Cytogenetic Map9p22.3UniSTS
HuRef92,146,630 - 2,146,926UniSTS
GeneMap99-GB4 RH Map918.57UniSTS
Whitehead-RH Map928.0UniSTS


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 1810 1660 1377 339 1286 184 3740 1196 2907 332 1368 1556 167 1133 2326 4
Low 626 1331 346 283 665 279 615 1000 818 86 84 50 7 1 71 462 2 2
Below cutoff 3 2 2 2 1 1 7 1 6 5 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_139045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK094076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL558829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY293824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI758293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM921013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA313181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD107405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD513892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD702931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA084762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA823500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW357592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW357593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW357594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U92832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000302401   ⟹   ENSP00000305411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,158,456 - 2,193,624 (+)Ensembl
RefSeq Acc Id: ENST00000324954   ⟹   ENSP00000324770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,157,683 - 2,193,574 (+)Ensembl
RefSeq Acc Id: ENST00000349721   ⟹   ENSP00000265773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,015,347 - 2,193,620 (+)Ensembl
RefSeq Acc Id: ENST00000357248   ⟹   ENSP00000349788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,015,186 - 2,193,620 (+)Ensembl
RefSeq Acc Id: ENST00000382183   ⟹   ENSP00000371618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,158,458 - 2,193,042 (+)Ensembl
RefSeq Acc Id: ENST00000382185   ⟹   ENSP00000371620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,158,452 - 2,193,387 (+)Ensembl
RefSeq Acc Id: ENST00000382186   ⟹   ENSP00000371621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,158,473 - 2,192,752 (+)Ensembl
RefSeq Acc Id: ENST00000382194   ⟹   ENSP00000371629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,017,412 - 2,193,577 (+)Ensembl
RefSeq Acc Id: ENST00000382203   ⟹   ENSP00000371638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,021,945 - 2,193,624 (+)Ensembl
RefSeq Acc Id: ENST00000416751   ⟹   ENSP00000412242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,159,945 - 2,191,311 (+)Ensembl
RefSeq Acc Id: ENST00000417599   ⟹   ENSP00000387486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,158,461 - 2,192,758 (+)Ensembl
RefSeq Acc Id: ENST00000423555   ⟹   ENSP00000413057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,158,449 - 2,191,298 (+)Ensembl
RefSeq Acc Id: ENST00000439732   ⟹   ENSP00000409398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,017,430 - 2,039,756 (+)Ensembl
RefSeq Acc Id: ENST00000450198   ⟹   ENSP00000392081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,015,219 - 2,193,574 (+)Ensembl
RefSeq Acc Id: ENST00000452193   ⟹   ENSP00000401096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,157,680 - 2,186,154 (+)Ensembl
RefSeq Acc Id: ENST00000457226   ⟹   ENSP00000415218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,017,087 - 2,039,689 (+)Ensembl
RefSeq Acc Id: ENST00000491574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,032,520 - 2,039,857 (+)Ensembl
RefSeq Acc Id: ENST00000634271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,096,601 - 2,110,360 (+)Ensembl
RefSeq Acc Id: ENST00000634287   ⟹   ENSP00000489142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,015,221 - 2,039,575 (+)Ensembl
RefSeq Acc Id: ENST00000634338   ⟹   ENSP00000489388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,158,493 - 2,191,292 (+)Ensembl
RefSeq Acc Id: ENST00000634343   ⟹   ENSP00000489615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,159,672 - 2,186,223 (+)Ensembl
RefSeq Acc Id: ENST00000634403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,058,161 - 2,061,008 (+)Ensembl
RefSeq Acc Id: ENST00000634435   ⟹   ENSP00000489212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,158,582 - 2,191,294 (+)Ensembl
RefSeq Acc Id: ENST00000634536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,015,347 - 2,033,188 (+)Ensembl
RefSeq Acc Id: ENST00000634688   ⟹   ENSP00000489473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,160,613 - 2,186,143 (+)Ensembl
RefSeq Acc Id: ENST00000634706   ⟹   ENSP00000489504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,158,493 - 2,186,204 (+)Ensembl
RefSeq Acc Id: ENST00000634760   ⟹   ENSP00000489256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,017,488 - 2,193,571 (+)Ensembl
RefSeq Acc Id: ENST00000634772   ⟹   ENSP00000489518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,110,357 - 2,186,121 (+)Ensembl
RefSeq Acc Id: ENST00000634781   ⟹   ENSP00000489302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,160,264 - 2,192,751 (+)Ensembl
RefSeq Acc Id: ENST00000634925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,085,728 - 2,161,795 (+)Ensembl
RefSeq Acc Id: ENST00000634931   ⟹   ENSP00000489433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,158,303 - 2,192,838 (+)Ensembl
RefSeq Acc Id: ENST00000634989   ⟹   ENSP00000489100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,158,456 - 2,192,856 (+)Ensembl
RefSeq Acc Id: ENST00000635030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,055,573 - 2,060,928 (+)Ensembl
RefSeq Acc Id: ENST00000635129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,073,097 - 2,081,860 (+)Ensembl
RefSeq Acc Id: ENST00000635133   ⟹   ENSP00000489168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,158,239 - 2,186,177 (+)Ensembl
RefSeq Acc Id: ENST00000635185   ⟹   ENSP00000488947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,076,284 - 2,096,689 (+)Ensembl
RefSeq Acc Id: ENST00000635226   ⟹   ENSP00000489560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,047,315 - 2,047,954 (+)Ensembl
RefSeq Acc Id: ENST00000635273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,181,233 - 2,192,796 (+)Ensembl
RefSeq Acc Id: ENST00000635388   ⟹   ENSP00000489271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,158,476 - 2,191,339 (+)Ensembl
RefSeq Acc Id: ENST00000635392   ⟹   ENSP00000489501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,181,571 - 2,186,183 (+)Ensembl
RefSeq Acc Id: ENST00000635397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,160,235 - 2,161,843 (+)Ensembl
RefSeq Acc Id: ENST00000635530   ⟹   ENSP00000489204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,158,475 - 2,191,300 (+)Ensembl
RefSeq Acc Id: ENST00000635590   ⟹   ENSP00000489587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,158,453 - 2,193,571 (+)Ensembl
RefSeq Acc Id: ENST00000635659   ⟹   ENSP00000489334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,159,779 - 2,191,342 (+)Ensembl
RefSeq Acc Id: ENST00000635688   ⟹   ENSP00000489555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,158,564 - 2,161,886 (+)Ensembl
RefSeq Acc Id: ENST00000635739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,068,953 - 2,193,624 (+)Ensembl
RefSeq Acc Id: ENST00000636157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,085,975 - 2,193,624 (+)Ensembl
RefSeq Acc Id: ENST00000636221   ⟹   ENSP00000490645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,017,990 - 2,029,036 (+)Ensembl
RefSeq Acc Id: ENST00000636233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,075,225 - 2,076,293 (+)Ensembl
RefSeq Acc Id: ENST00000636367   ⟹   ENSP00000489942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,158,470 - 2,193,603 (+)Ensembl
RefSeq Acc Id: ENST00000636501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,075,068 - 2,076,262 (+)Ensembl
RefSeq Acc Id: ENST00000636559   ⟹   ENSP00000490852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,015,347 - 2,045,869 (+)Ensembl
RefSeq Acc Id: ENST00000636758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,097,117 - 2,097,415 (+)Ensembl
RefSeq Acc Id: ENST00000636903   ⟹   ENSP00000489968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,015,971 - 2,042,802 (+)Ensembl
RefSeq Acc Id: ENST00000636916   ⟹   ENSP00000490262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,070,433 - 2,073,247 (+)Ensembl
RefSeq Acc Id: ENST00000636969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,087,022 - 2,087,350 (+)Ensembl
RefSeq Acc Id: ENST00000637097   ⟹   ENSP00000490411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,016,370 - 2,029,031 (+)Ensembl
RefSeq Acc Id: ENST00000637103   ⟹   ENSP00000490486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,015,281 - 2,046,037 (+)Ensembl
RefSeq Acc Id: ENST00000637134   ⟹   ENSP00000489667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,015,591 - 2,110,417 (+)Ensembl
RefSeq Acc Id: ENST00000637352   ⟹   ENSP00000490757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,016,142 - 2,029,042 (+)Ensembl
RefSeq Acc Id: ENST00000637371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,075,349 - 2,076,279 (+)Ensembl
RefSeq Acc Id: ENST00000637383   ⟹   ENSP00000489645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl91,980,290 - 2,029,051 (+)Ensembl
RefSeq Acc Id: ENST00000637806   ⟹   ENSP00000490551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,017,586 - 2,045,921 (+)Ensembl
RefSeq Acc Id: ENST00000637856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,158,956 - 2,161,702 (+)Ensembl
RefSeq Acc Id: ENST00000638139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,097,236 - 2,193,607 (+)Ensembl
RefSeq Acc Id: ENST00000639760   ⟹   ENSP00000492585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,123,850 - 2,193,560 (+)Ensembl
RefSeq Acc Id: ENST00000704350   ⟹   ENSP00000515861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,015,318 - 2,193,620 (+)Ensembl
RefSeq Acc Id: ENST00000704351   ⟹   ENSP00000515862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,015,347 - 2,043,568 (+)Ensembl
RefSeq Acc Id: ENST00000704352   ⟹   ENSP00000515863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,015,355 - 2,193,620 (+)Ensembl
RefSeq Acc Id: ENST00000704353   ⟹   ENSP00000515864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,015,355 - 2,193,620 (+)Ensembl
RefSeq Acc Id: ENST00000704354   ⟹   ENSP00000515865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,032,959 - 2,193,624 (+)Ensembl
RefSeq Acc Id: ENST00000704355   ⟹   ENSP00000515866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl92,058,337 - 2,193,279 (+)Ensembl
RefSeq Acc Id: NM_001289396   ⟹   NP_001276325
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3892,021,945 - 2,193,624 (+)NCBI
HuRef91,969,117 - 2,147,484 (+)NCBI
CHM1_192,022,070 - 2,193,714 (+)NCBI
T2T-CHM13v2.092,024,469 - 2,196,087 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289397   ⟹   NP_001276326
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3892,015,347 - 2,193,620 (+)NCBI
HuRef91,969,117 - 2,147,484 (+)NCBI
CHM1_192,015,344 - 2,193,714 (+)NCBI
T2T-CHM13v2.092,017,871 - 2,196,083 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289398   ⟹   NP_001276327
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3892,157,662 - 2,193,620 (+)NCBI
HuRef91,969,117 - 2,147,484 (+)NCBI
CHM1_192,157,799 - 2,193,714 (+)NCBI
T2T-CHM13v2.092,160,144 - 2,196,083 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289399   ⟹   NP_001276328
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3892,158,452 - 2,193,624 (+)NCBI
HuRef91,969,117 - 2,147,484 (+)NCBI
CHM1_192,158,565 - 2,193,714 (+)NCBI
T2T-CHM13v2.092,160,934 - 2,196,087 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289400   ⟹   NP_001276329
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3892,158,456 - 2,193,624 (+)NCBI
HuRef91,969,117 - 2,147,484 (+)NCBI
CHM1_192,158,569 - 2,193,714 (+)NCBI
T2T-CHM13v2.092,160,938 - 2,196,087 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003070   ⟹   NP_003061
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3892,015,347 - 2,193,620 (+)NCBI
GRCh3792,015,342 - 2,193,624 (+)ENTREZGENE
GRCh3792,015,342 - 2,193,624 (+)NCBI
Build 3692,005,342 - 2,183,624 (+)NCBI Archive
HuRef91,969,117 - 2,147,484 (+)NCBI
CHM1_192,015,344 - 2,193,714 (+)NCBI
T2T-CHM13v2.092,017,871 - 2,196,083 (+)NCBI
Sequence:
RefSeq Acc Id: NM_139045   ⟹   NP_620614
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3892,015,347 - 2,193,620 (+)NCBI
GRCh3792,015,342 - 2,193,624 (+)ENTREZGENE
GRCh3792,015,342 - 2,193,624 (+)NCBI
Build 3692,005,342 - 2,183,624 (+)NCBI Archive
HuRef91,969,117 - 2,147,484 (+)NCBI
CHM1_192,015,344 - 2,193,714 (+)NCBI
T2T-CHM13v2.092,017,871 - 2,196,083 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001276325 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276326 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276327 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276328 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276329 (Get FASTA)   NCBI Sequence Viewer  
  NP_003061 (Get FASTA)   NCBI Sequence Viewer  
  NP_620614 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB68685 (Get FASTA)   NCBI Sequence Viewer  
  AAH40029 (Get FASTA)   NCBI Sequence Viewer  
  BAC04280 (Get FASTA)   NCBI Sequence Viewer  
  BAG59047 (Get FASTA)   NCBI Sequence Viewer  
  BAG60343 (Get FASTA)   NCBI Sequence Viewer  
  BAG61590 (Get FASTA)   NCBI Sequence Viewer  
  BAG61895 (Get FASTA)   NCBI Sequence Viewer  
  CAA51407 (Get FASTA)   NCBI Sequence Viewer  
  EAW58811 (Get FASTA)   NCBI Sequence Viewer  
  EAW58812 (Get FASTA)   NCBI Sequence Viewer  
  EAW58813 (Get FASTA)   NCBI Sequence Viewer  
  EAW58814 (Get FASTA)   NCBI Sequence Viewer  
  EAW58815 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265773
  ENSP00000265773.5
  ENSP00000305411
  ENSP00000305411.3
  ENSP00000324770
  ENSP00000324770.6
  ENSP00000349788
  ENSP00000349788.2
  ENSP00000371618.1
  ENSP00000371620
  ENSP00000371620.2
  ENSP00000371621.1
  ENSP00000371629.1
  ENSP00000371638
  ENSP00000371638.1
  ENSP00000387486.2
  ENSP00000392081
  ENSP00000392081.2
  ENSP00000401096.2
  ENSP00000409398.2
  ENSP00000412242.2
  ENSP00000413057.2
  ENSP00000415218.2
  ENSP00000488947.1
  ENSP00000489100.1
  ENSP00000489142.1
  ENSP00000489168.1
  ENSP00000489204.1
  ENSP00000489212.1
  ENSP00000489256.1
  ENSP00000489271.1
  ENSP00000489302.1
  ENSP00000489334.1
  ENSP00000489388.1
  ENSP00000489433.1
  ENSP00000489473.1
  ENSP00000489501.1
  ENSP00000489504.1
  ENSP00000489518.1
  ENSP00000489555.1
  ENSP00000489560.1
  ENSP00000489587.1
  ENSP00000489615.1
  ENSP00000489645.1
  ENSP00000489667.2
  ENSP00000489942.1
  ENSP00000489968.1
  ENSP00000490262.1
  ENSP00000490486.1
  ENSP00000490551.1
  ENSP00000490852.1
  ENSP00000492585.2
  ENSP00000515861.1
  ENSP00000515862.1
  ENSP00000515863.1
  ENSP00000515864.1
  ENSP00000515865.1
  ENSP00000515866.1
GenBank Protein P51531 (Get FASTA)   NCBI Sequence Viewer  
  UPG58836 (Get FASTA)   NCBI Sequence Viewer  
  UPG58837 (Get FASTA)   NCBI Sequence Viewer  
  UPG58838 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_003061   ⟸   NM_003070
- Peptide Label: isoform a
- UniProtKB: D3DRH4 (UniProtKB/Swiss-Prot),   B1ALG4 (UniProtKB/Swiss-Prot),   B1ALG3 (UniProtKB/Swiss-Prot),   D3DRH5 (UniProtKB/Swiss-Prot),   P51531 (UniProtKB/Swiss-Prot),   A0A0U1RQZ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_620614   ⟸   NM_139045
- Peptide Label: isoform b
- UniProtKB: A0A0U1RQZ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276326   ⟸   NM_001289397
- Peptide Label: isoform c
- UniProtKB: F6VDE0 (UniProtKB/TrEMBL),   A0A0U1RQZ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276325   ⟸   NM_001289396
- Peptide Label: isoform a
- UniProtKB: D3DRH4 (UniProtKB/Swiss-Prot),   B1ALG4 (UniProtKB/Swiss-Prot),   B1ALG3 (UniProtKB/Swiss-Prot),   D3DRH5 (UniProtKB/Swiss-Prot),   P51531 (UniProtKB/Swiss-Prot),   A0A0U1RQZ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276327   ⟸   NM_001289398
- Peptide Label: isoform d
- UniProtKB: F6T8Q0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276328   ⟸   NM_001289399
- Peptide Label: isoform e precursor
- UniProtKB: B4DNT1 (UniProtKB/TrEMBL),   F6XG14 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276329   ⟸   NM_001289400
- Peptide Label: isoform f precursor
- UniProtKB: B1ALF6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000413057   ⟸   ENST00000423555
RefSeq Acc Id: ENSP00000489433   ⟸   ENST00000634931
RefSeq Acc Id: ENSP00000489100   ⟸   ENST00000634989
RefSeq Acc Id: ENSP00000489212   ⟸   ENST00000634435
RefSeq Acc Id: ENSP00000489615   ⟸   ENST00000634343
RefSeq Acc Id: ENSP00000489388   ⟸   ENST00000634338
RefSeq Acc Id: ENSP00000489142   ⟸   ENST00000634287
RefSeq Acc Id: ENSP00000489518   ⟸   ENST00000634772
RefSeq Acc Id: ENSP00000489302   ⟸   ENST00000634781
RefSeq Acc Id: ENSP00000489504   ⟸   ENST00000634706
RefSeq Acc Id: ENSP00000489256   ⟸   ENST00000634760
RefSeq Acc Id: ENSP00000489473   ⟸   ENST00000634688
RefSeq Acc Id: ENSP00000489271   ⟸   ENST00000635388
RefSeq Acc Id: ENSP00000489501   ⟸   ENST00000635392
RefSeq Acc Id: ENSP00000489560   ⟸   ENST00000635226
RefSeq Acc Id: ENSP00000489168   ⟸   ENST00000635133
RefSeq Acc Id: ENSP00000488947   ⟸   ENST00000635185
RefSeq Acc Id: ENSP00000409398   ⟸   ENST00000439732
RefSeq Acc Id: ENSP00000392081   ⟸   ENST00000450198
RefSeq Acc Id: ENSP00000489334   ⟸   ENST00000635659
RefSeq Acc Id: ENSP00000489555   ⟸   ENST00000635688
RefSeq Acc Id: ENSP00000489204   ⟸   ENST00000635530
RefSeq Acc Id: ENSP00000489587   ⟸   ENST00000635590
RefSeq Acc Id: ENSP00000490645   ⟸   ENST00000636221
RefSeq Acc Id: ENSP00000490852   ⟸   ENST00000636559
RefSeq Acc Id: ENSP00000489942   ⟸   ENST00000636367
RefSeq Acc Id: ENSP00000489968   ⟸   ENST00000636903
RefSeq Acc Id: ENSP00000490262   ⟸   ENST00000636916
RefSeq Acc Id: ENSP00000489645   ⟸   ENST00000637383
RefSeq Acc Id: ENSP00000490757   ⟸   ENST00000637352
RefSeq Acc Id: ENSP00000489667   ⟸   ENST00000637134
RefSeq Acc Id: ENSP00000490551   ⟸   ENST00000637806
RefSeq Acc Id: ENSP00000490486   ⟸   ENST00000637103
RefSeq Acc Id: ENSP00000490411   ⟸   ENST00000637097
RefSeq Acc Id: ENSP00000401096   ⟸   ENST00000452193
RefSeq Acc Id: ENSP00000265773   ⟸   ENST00000349721
RefSeq Acc Id: ENSP00000492585   ⟸   ENST00000639760
RefSeq Acc Id: ENSP00000412242   ⟸   ENST00000416751
RefSeq Acc Id: ENSP00000324770   ⟸   ENST00000324954
RefSeq Acc Id: ENSP00000387486   ⟸   ENST00000417599
RefSeq Acc Id: ENSP00000415218   ⟸   ENST00000457226
RefSeq Acc Id: ENSP00000305411   ⟸   ENST00000302401
RefSeq Acc Id: ENSP00000349788   ⟸   ENST00000357248
RefSeq Acc Id: ENSP00000371638   ⟸   ENST00000382203
RefSeq Acc Id: ENSP00000371621   ⟸   ENST00000382186
RefSeq Acc Id: ENSP00000371620   ⟸   ENST00000382185
RefSeq Acc Id: ENSP00000371618   ⟸   ENST00000382183
RefSeq Acc Id: ENSP00000371629   ⟸   ENST00000382194
RefSeq Acc Id: ENSP00000515861   ⟸   ENST00000704350
RefSeq Acc Id: ENSP00000515866   ⟸   ENST00000704355
RefSeq Acc Id: ENSP00000515864   ⟸   ENST00000704353
RefSeq Acc Id: ENSP00000515865   ⟸   ENST00000704354
RefSeq Acc Id: ENSP00000515863   ⟸   ENST00000704352
RefSeq Acc Id: ENSP00000515862   ⟸   ENST00000704351
Protein Domains
Bromo   Helicase ATP-binding   Helicase C-terminal   HSA   QLQ

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P51531-F1-model_v2 AlphaFold P51531 1-1590 view protein structure

Promoters
RGD ID:6808242
Promoter ID:HG_KWN:62436
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:ENST00000349721,   ENST00000357248,   OTTHUMT00000051510,   UC010MHA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3692,004,964 - 2,005,464 (+)MPROMDB
RGD ID:6808239
Promoter ID:HG_KWN:62437
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000051507,   OTTHUMT00000051508
Position:
Human AssemblyChrPosition (strand)Source
Build 3692,006,121 - 2,007,582 (+)MPROMDB
RGD ID:6807478
Promoter ID:HG_KWN:62438
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000382203
Position:
Human AssemblyChrPosition (strand)Source
Build 3692,011,451 - 2,012,187 (+)MPROMDB
RGD ID:7214565
Promoter ID:EPDNEW_H13028
Type:initiation region
Name:SMARCA2_1
Description:SWI/SNF related, matrix associated, actin dependent regulatorof chromatin, subfamily a, member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13027  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3892,015,347 - 2,015,407EPDNEW
RGD ID:6807476
Promoter ID:HG_KWN:62439
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000382194
Position:
Human AssemblyChrPosition (strand)Source
Build 3692,018,086 - 2,019,212 (+)MPROMDB
RGD ID:6808241
Promoter ID:HG_KWN:62440
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000051509
Position:
Human AssemblyChrPosition (strand)Source
Build 3692,021,801 - 2,022,552 (+)MPROMDB
RGD ID:6813719
Promoter ID:HG_ACW:79546
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:SMARCA2.VCAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 3692,036,866 - 2,037,366 (+)MPROMDB
RGD ID:6813728
Promoter ID:HG_ACW:79547
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:JARORBY.AAPR07-UNSPLICED,   SMARCA2.VBAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3692,044,011 - 2,044,511 (+)MPROMDB
RGD ID:6813718
Promoter ID:HG_ACW:79551
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:SMARCA2.MAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3692,077,806 - 2,078,306 (+)MPROMDB
RGD ID:6808243
Promoter ID:HG_KWN:62442
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000051513
Position:
Human AssemblyChrPosition (strand)Source
Build 3692,146,961 - 2,147,867 (+)MPROMDB
RGD ID:6807477
Promoter ID:HG_KWN:62443
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:ENST00000382183,   OTTHUMT00000051514,   OTTHUMT00000051516,   UC003ZHE.1,   UC003ZHF.1,   UC003ZHG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3692,147,891 - 2,148,467 (+)MPROMDB
RGD ID:6807479
Promoter ID:HG_KWN:62444
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000397943,   OTTHUMT00000051517,   UC010MHB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3692,149,066 - 2,150,017 (+)MPROMDB
RGD ID:6807473
Promoter ID:HG_KWN:62445
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000382182
Position:
Human AssemblyChrPosition (strand)Source
Build 3692,151,201 - 2,151,802 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11098 AgrOrtholog
COSMIC SMARCA2 COSMIC
Ensembl Genes ENSG00000080503 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000302401 ENTREZGENE
  ENST00000302401.8 UniProtKB/TrEMBL
  ENST00000324954 ENTREZGENE
  ENST00000324954.10 UniProtKB/TrEMBL
  ENST00000349721 ENTREZGENE
  ENST00000349721.8 UniProtKB/Swiss-Prot
  ENST00000357248 ENTREZGENE
  ENST00000357248.8 UniProtKB/Swiss-Prot
  ENST00000382183.6 UniProtKB/TrEMBL
  ENST00000382185 ENTREZGENE
  ENST00000382185.6 UniProtKB/TrEMBL
  ENST00000382186.6 UniProtKB/TrEMBL
  ENST00000382194.6 UniProtKB/Swiss-Prot
  ENST00000382203 ENTREZGENE
  ENST00000382203.5 UniProtKB/Swiss-Prot
  ENST00000416751.2 UniProtKB/TrEMBL
  ENST00000417599.6 UniProtKB/TrEMBL
  ENST00000423555.6 UniProtKB/TrEMBL
  ENST00000439732.6 UniProtKB/TrEMBL
  ENST00000450198 ENTREZGENE
  ENST00000450198.6 UniProtKB/TrEMBL
  ENST00000452193.5 UniProtKB/TrEMBL
  ENST00000457226.2 UniProtKB/TrEMBL
  ENST00000634287.1 UniProtKB/TrEMBL
  ENST00000634338.1 UniProtKB/TrEMBL
  ENST00000634343.1 UniProtKB/TrEMBL
  ENST00000634435.1 UniProtKB/TrEMBL
  ENST00000634688.1 UniProtKB/TrEMBL
  ENST00000634706.1 UniProtKB/TrEMBL
  ENST00000634760.1 UniProtKB/TrEMBL
  ENST00000634772.1 UniProtKB/TrEMBL
  ENST00000634781.1 UniProtKB/TrEMBL
  ENST00000634931.1 UniProtKB/TrEMBL
  ENST00000634989.1 UniProtKB/TrEMBL
  ENST00000635133.1 UniProtKB/TrEMBL
  ENST00000635185.1 UniProtKB/TrEMBL
  ENST00000635226.1 UniProtKB/TrEMBL
  ENST00000635388.1 UniProtKB/TrEMBL
  ENST00000635392.1 UniProtKB/TrEMBL
  ENST00000635530.1 UniProtKB/TrEMBL
  ENST00000635590.1 UniProtKB/TrEMBL
  ENST00000635659.1 UniProtKB/TrEMBL
  ENST00000635688.1 UniProtKB/TrEMBL
  ENST00000636367.1 UniProtKB/TrEMBL
  ENST00000636559.1 UniProtKB/TrEMBL
  ENST00000636903.1 UniProtKB/TrEMBL
  ENST00000636916.1 UniProtKB/TrEMBL
  ENST00000637103.1 UniProtKB/TrEMBL
  ENST00000637134.2 UniProtKB/TrEMBL
  ENST00000637383.1 UniProtKB/TrEMBL
  ENST00000637806.1 UniProtKB/TrEMBL
  ENST00000639760.2 UniProtKB/TrEMBL
  ENST00000704350.1 UniProtKB/TrEMBL
  ENST00000704351.1 UniProtKB/TrEMBL
  ENST00000704352.1 UniProtKB/TrEMBL
  ENST00000704353.1 UniProtKB/TrEMBL
  ENST00000704354.1 UniProtKB/TrEMBL
  ENST00000704355.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.920.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.5.120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.10810 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000080503 GTEx
HGNC ID HGNC:11098 ENTREZGENE
Human Proteome Map SMARCA2 Human Proteome Map
InterPro BRK_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BRK_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bromodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bromodomain-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bromodomain_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gln-Leu-Gln_QLQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_ATP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HSA_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rsc/polybromo UniProtKB/TrEMBL
  SnAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNF2-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNF2/RAD54-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNF2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6595 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6595 ENTREZGENE
OMIM 600014 OMIM
PANTHER PROTEIN POLYBROMO-1 UniProtKB/TrEMBL
  PTHR10799:SF541 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNF2/RAD54 HELICASE FAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SWI/SNF-RELATED UniProtKB/TrEMBL
Pfam BRK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bromodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HSA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  QLQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SnAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNF2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35948 PharmGKB
PRINTS BROMODOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BROMODOMAIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BROMODOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HSA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  QLQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BRK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BROMO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEXDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HSA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  QLQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SnAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF160481 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47370 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MSS5_HUMAN UniProtKB/TrEMBL
  A0A0A0MT03_HUMAN UniProtKB/TrEMBL
  A0A0U1RQE1_HUMAN UniProtKB/TrEMBL
  A0A0U1RQP3_HUMAN UniProtKB/TrEMBL
  A0A0U1RQS1_HUMAN UniProtKB/TrEMBL
  A0A0U1RQU0_HUMAN UniProtKB/TrEMBL
  A0A0U1RQW7_HUMAN UniProtKB/TrEMBL
  A0A0U1RQX3_HUMAN UniProtKB/TrEMBL
  A0A0U1RQZ9 ENTREZGENE, UniProtKB/TrEMBL
  A0A0U1RR09_HUMAN UniProtKB/TrEMBL
  A0A0U1RR26_HUMAN UniProtKB/TrEMBL
  A0A0U1RR45_HUMAN UniProtKB/TrEMBL
  A0A0U1RR83_HUMAN UniProtKB/TrEMBL
  A0A0U1RRD6_HUMAN UniProtKB/TrEMBL
  A0A0U1RRF5_HUMAN UniProtKB/TrEMBL
  A0A0U1RRF8_HUMAN UniProtKB/TrEMBL
  A0A0U1RRG6_HUMAN UniProtKB/TrEMBL
  A0A0U1RRJ4_HUMAN UniProtKB/TrEMBL
  A0A0U1RRJ8_HUMAN UniProtKB/TrEMBL
  A0A0U1RRN2_HUMAN UniProtKB/TrEMBL
  A0A1B0GTC9_HUMAN UniProtKB/TrEMBL
  A0A1B0GU54_HUMAN UniProtKB/TrEMBL
  A0A1B0GUV6_HUMAN UniProtKB/TrEMBL
  A0A1B0GWA8_HUMAN UniProtKB/TrEMBL
  A0A1W2PS06_HUMAN UniProtKB/TrEMBL
  A0A994HRU5_HUMAN UniProtKB/TrEMBL
  A0A994J4C9_HUMAN UniProtKB/TrEMBL
  A0A994J4K2_HUMAN UniProtKB/TrEMBL
  A0A994J4Z7_HUMAN UniProtKB/TrEMBL
  A0A994J501_HUMAN UniProtKB/TrEMBL
  A0A994J6Z7_HUMAN UniProtKB/TrEMBL
  A0A994J7D9_HUMAN UniProtKB/TrEMBL
  B1ALF6 ENTREZGENE, UniProtKB/TrEMBL
  B1ALG1_HUMAN UniProtKB/TrEMBL
  B1ALG2_HUMAN UniProtKB/TrEMBL
  B1ALG3 ENTREZGENE
  B1ALG4 ENTREZGENE
  B4DNT1 ENTREZGENE, UniProtKB/TrEMBL
  B4DSC8_HUMAN UniProtKB/TrEMBL
  D3DRH4 ENTREZGENE
  D3DRH5 ENTREZGENE
  F6RS74_HUMAN UniProtKB/TrEMBL
  F6T8Q0 ENTREZGENE, UniProtKB/TrEMBL
  F6UH26_HUMAN UniProtKB/TrEMBL
  F6VDE0 ENTREZGENE, UniProtKB/TrEMBL
  F6XE55_HUMAN UniProtKB/TrEMBL
  F6XG14 ENTREZGENE
  P51531 ENTREZGENE
  Q56A76_HUMAN UniProtKB/TrEMBL
  Q8N9Q1_HUMAN UniProtKB/TrEMBL
  SMCA2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B1ALG3 UniProtKB/Swiss-Prot
  B1ALG4 UniProtKB/Swiss-Prot
  D3DRH4 UniProtKB/Swiss-Prot
  D3DRH5 UniProtKB/Swiss-Prot
  F6XG14 UniProtKB/TrEMBL