ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1) - Rat Genome Database

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Gene: ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1) Homo sapiens
Analyze
Symbol: ATP2A1
Name: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
RGD ID: 731640
HGNC Page HGNC:811
Description: Enables P-type calcium transporter activity; calcium ion binding activity; and protein homodimerization activity. Involved in several processes, including intracellular calcium ion homeostasis; maintenance of mitochondrion location; and regulation of striated muscle contraction. Located in H zone; I band; and endoplasmic reticulum membrane. Implicated in Brody myopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP2A; ATPase, Ca++ transporting, cardiac muscle, fast twitch 1; calcium pump 1; calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform; endoplasmic reticulum class 1/2 Ca(2+) ATPase; sarcoplasmic/endoplasmic reticulum calcium ATPase 1; SERCA1; SR Ca(2+)-ATPase 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381628,878,488 - 28,904,466 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1628,878,405 - 28,904,466 (+)EnsemblGRCh38hg38GRCh38
GRCh371628,889,809 - 28,915,787 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361628,797,310 - 28,823,331 (+)NCBINCBI36Build 36hg18NCBI36
Build 341628,797,309 - 28,823,331NCBI
Celera1627,844,578 - 27,896,644 (+)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1626,757,144 - 26,783,172 (+)NCBIHuRef
CHM1_11629,901,645 - 29,927,644 (+)NCBICHM1_1
T2T-CHM13v2.01629,158,988 - 29,184,960 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acetohydrazide  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (EXP)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
allethrin  (ISO)
alloxan  (ISO)
Ammothamnine  (EXP)
aristolochic acid A  (EXP)
atrazine  (ISO)
Azoxymethane  (ISO)
benzo[a]pyrene  (ISO)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bortezomib  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
D-glucose  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
doxorubicin  (ISO)
ethanol  (ISO)
ethylenediaminetetraacetic acid  (ISO)
fenthion  (ISO)
fenvalerate  (ISO)
fucoxanthin  (ISO)
glucose  (ISO)
graphite  (ISO)
hydrazine  (ISO)
imisopasem manganese  (ISO)
iron(2+) sulfate (anhydrous)  (ISO)
lycopene  (ISO)
methamphetamine  (ISO)
mifepristone  (ISO)
N-nitrosodiethylamine  (ISO)
nitrofen  (ISO)
ozone  (EXP,ISO)
paracetamol  (ISO)
phenobarbital  (ISO)
phenols  (ISO)
PhIP  (ISO)
pioglitazone  (ISO)
progesterone  (ISO)
pyrethrins  (ISO)
quercetin  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
spermine  (ISO)
sulindac  (EXP)
tamoxifen  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
Theaflavin 3,3'-digallate  (EXP)
titanium dioxide  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
urethane  (EXP)
valproic acid  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. Fingolimod attenuates experimental autoimmune neuritis and contributes to Schwann cell-mediated axonal protection. Ambrosius B, etal., J Neuroinflammation. 2017 Apr 26;14(1):92. doi: 10.1186/s12974-017-0864-z.
2. Calcium pumps in health and disease. Brini M and Carafoli E, Physiol Rev. 2009 Oct;89(4):1341-78. doi: 10.1152/physrev.00032.2008.
3. Mitochondrial and sarcoplasmic reticulum abnormalities in cancer cachexia: altered energetic efficiency? Fontes-Oliveira CC, etal., Biochim Biophys Acta. 2013 Mar;1830(3):2770-8. doi: 10.1016/j.bbagen.2012.11.009.
4. Tail muscle parvalbumin content is decreased in chronic sacral spinal cord injured rats with spasticity. Harris RL, etal., Exp Physiol. 2011 Dec;96(12):1311-20. doi: 10.1113/expphysiol.2011.061614. Epub 2011 Sep 19.
5. Contractility of ventricular myocytes is well preserved despite altered mechanisms of Ca2+ transport and a changing pattern of mRNA in aged type 2 Zucker diabetic fatty rat heart. Howarth FC, etal., Mol Cell Biochem. 2012 Feb;361(1-2):267-80. Epub 2011 Oct 19.
6. Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease. Odermatt A, etal., Nat Genet 1996 Oct;14(2):191-4.
7. Ca2+-regulatory muscle proteins in the alcohol-fed rat. Ohlendieck K, etal., Metabolism. 2003 Sep;52(9):1102-12.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Early energy metabolism-related molecular events in skeletal muscle of diabetic rats: The effects of l-arginine and SOD mimic. Stancic A, etal., Chem Biol Interact. 2017 Jun 25;272:188-196. doi: 10.1016/j.cbi.2017.05.003. Epub 2017 May 5.
14. Expression of SERCA isoform with faster Ca2+ transport properties improves postischemic cardiac function and Ca2+ handling and decreases myocardial infarction. Talukder MA, etal., Am J Physiol Heart Circ Physiol. 2007 Oct;293(4):H2418-28. doi: 10.1152/ajpheart.00663.2007. Epub 2007 Jul 13.
15. [Lowered sarcoendoplasmic reticulum calcium uptake and diaphragmatic SERCA1 expression contribute to diaphragmatic contractile and relaxation dysfunction in septic rats]. Zhang JY, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2016 Apr 20;37(4):438-443.
Additional References at PubMed
PMID:1329967   PMID:1746562   PMID:2842876   PMID:2936465   PMID:8040329   PMID:8729696   PMID:8825625   PMID:8889548   PMID:9295312   PMID:9367679   PMID:9405806   PMID:9575189  
PMID:9642673   PMID:10551848   PMID:10914677   PMID:11402072   PMID:11438520   PMID:11526231   PMID:12032137   PMID:12477932   PMID:12479237   PMID:12525698   PMID:12692302   PMID:12975374  
PMID:14638697   PMID:14702039   PMID:15071553   PMID:15718407   PMID:15767202   PMID:15972723   PMID:16192278   PMID:16410239   PMID:16642550   PMID:16754798   PMID:16933204   PMID:17010426  
PMID:17110338   PMID:17728322   PMID:18947188   PMID:18953100   PMID:19061639   PMID:19079260   PMID:19644701   PMID:21145461   PMID:21576492   PMID:21726808   PMID:21873635   PMID:22609207  
PMID:22939629   PMID:23414517   PMID:23888875   PMID:23911890   PMID:24550385   PMID:24639526   PMID:24786561   PMID:25074938   PMID:25487304   PMID:25875358   PMID:26186194   PMID:26618866  
PMID:27033604   PMID:27055500   PMID:27133661   PMID:27542412   PMID:27545878   PMID:28298427   PMID:28487373   PMID:28514442   PMID:28533407   PMID:28675297   PMID:28890335   PMID:29128334  
PMID:29507755   PMID:29955039   PMID:30575818   PMID:30619736   PMID:30940648   PMID:31536960   PMID:31586073   PMID:31980649   PMID:32393512   PMID:32513696   PMID:32698014   PMID:32707033  
PMID:33019581   PMID:33567341   PMID:33801794   PMID:33961781   PMID:34079125   PMID:34205207   PMID:34349018   PMID:35575683   PMID:35777956   PMID:36282215   PMID:36373674   PMID:36517590  


Genomics

Comparative Map Data
ATP2A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381628,878,488 - 28,904,466 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1628,878,405 - 28,904,466 (+)EnsemblGRCh38hg38GRCh38
GRCh371628,889,809 - 28,915,787 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361628,797,310 - 28,823,331 (+)NCBINCBI36Build 36hg18NCBI36
Build 341628,797,309 - 28,823,331NCBI
Celera1627,844,578 - 27,896,644 (+)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1626,757,144 - 26,783,172 (+)NCBIHuRef
CHM1_11629,901,645 - 29,927,644 (+)NCBICHM1_1
T2T-CHM13v2.01629,158,988 - 29,184,960 (+)NCBIT2T-CHM13v2.0
Atp2a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397126,045,032 - 126,062,245 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7126,045,030 - 126,062,280 (-)EnsemblGRCm39 Ensembl
GRCm387126,445,858 - 126,463,103 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7126,445,858 - 126,463,108 (-)EnsemblGRCm38mm10GRCm38
MGSCv377133,589,374 - 133,606,587 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367126,237,008 - 126,254,221 (-)NCBIMGSCv36mm8
Celera7126,298,414 - 126,315,638 (-)NCBICelera
Cytogenetic Map7F3NCBI
cM Map769.04NCBI
Atp2a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81190,457,198 - 190,475,410 (-)NCBIGRCr8
mRatBN7.21181,026,606 - 181,044,859 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1181,026,608 - 181,044,838 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1189,357,175 - 189,375,401 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01196,543,255 - 196,561,480 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01189,231,158 - 189,249,385 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01197,855,912 - 197,875,038 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01204,836,393 - 204,854,172 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1178,686,581 - 178,704,188 (-)NCBICelera
Cytogenetic Map1q36NCBI
Atp2a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554936,559,995 - 6,578,461 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554936,559,995 - 6,578,461 (-)NCBIChiLan1.0ChiLan1.0
ATP2A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21831,856,753 - 31,883,308 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11636,674,275 - 36,700,816 (-)NCBINHGRI_mPanPan1
PanPan1.11629,265,107 - 29,274,924 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1629,265,516 - 29,290,807 (+)NCBIpanpan1.1panPan2
PanPan1.1 Ensembl1629,265,516 - 29,290,807 (+)Ensemblpanpan1.1panPan2
ATP2A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1618,384,981 - 18,400,038 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl618,385,007 - 18,400,036 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha619,963,150 - 19,978,140 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0618,520,899 - 18,535,902 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl618,520,922 - 18,535,900 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1618,320,443 - 18,335,447 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0618,235,008 - 18,250,003 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0618,551,136 - 18,566,380 (+)NCBIUU_Cfam_GSD_1.0
Atp2a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344123,720,441 - 123,738,330 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650111,816,585 - 11,836,231 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650111,818,301 - 11,836,221 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP2A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl318,545,071 - 18,568,310 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1318,545,064 - 18,568,312 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2318,733,279 - 18,753,571 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ATP2A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1526,165,370 - 26,196,517 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl526,164,205 - 26,193,172 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660683,421,323 - 3,459,785 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atp2a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478212,867,230 - 12,883,685 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478212,867,404 - 12,883,685 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATP2A1
741 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004320.6(ATP2A1):c.580G>A (p.Val194Ile) single nucleotide variant Brody myopathy [RCV001211752]|Inborn genetic diseases [RCV002525223]|not provided [RCV000523470] Chr16:28887224 [GRCh38]
Chr16:28898545 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.915T>G (p.Ala305=) single nucleotide variant Brody myopathy [RCV000549640] Chr16:28887709 [GRCh38]
Chr16:28899030 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2121C>T (p.Asp707=) single nucleotide variant Brody myopathy [RCV000555678]|not provided [RCV003419951] Chr16:28901883 [GRCh38]
Chr16:28913204 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2077T>G (p.Ser693Ala) single nucleotide variant Brody myopathy [RCV000525672] Chr16:28900893 [GRCh38]
Chr16:28912214 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2752G>A (p.Glu918Lys) single nucleotide variant Brody myopathy [RCV000822415]|not specified [RCV000518580] Chr16:28903037 [GRCh38]
Chr16:28914358 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1224C>T (p.Asp408=) single nucleotide variant Brody myopathy [RCV000541172] Chr16:28894544 [GRCh38]
Chr16:28905865 [GRCh37]
Chr16:16p11.2		 likely benign
NC_000016.10:g.(?_28878652)_(28904225_?)del deletion Brody myopathy [RCV000526455] Chr16:28878652..28904225 [GRCh38]
Chr16:28889973..28915546 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.1619C>T (p.Pro540Leu) single nucleotide variant Brody myopathy [RCV000535094]|not provided [RCV004715282]|not specified [RCV000600170] Chr16:28898306 [GRCh38]
Chr16:28909627 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.2112C>T (p.Gly704=) single nucleotide variant Brody myopathy [RCV001456377] Chr16:28901874 [GRCh38]
Chr16:28913195 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1852G>A (p.Gly618Arg) single nucleotide variant Brody myopathy [RCV000542646] Chr16:28900668 [GRCh38]
Chr16:28911989 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1419G>A (p.Ser473=) single nucleotide variant Brody myopathy [RCV000542880]|not provided [RCV004791545] Chr16:28894953 [GRCh38]
Chr16:28906274 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1367A>G (p.Asn456Ser) single nucleotide variant Brody myopathy [RCV000554411]|not provided [RCV001662549] Chr16:28894901 [GRCh38]
Chr16:28906222 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.592C>T (p.Arg198Ter) single nucleotide variant Brody myopathy [RCV000019380] Chr16:28887236 [GRCh38]
Chr16:28898557 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2025C>A (p.Cys675Ter) single nucleotide variant Brody myopathy [RCV000019381] Chr16:28900841 [GRCh38]
Chr16:28912162 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.219+1G>C single nucleotide variant Brody myopathy [RCV000019382] Chr16:28879584 [GRCh38]
Chr16:28890905 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.440del (p.Pro147fs) deletion Brody myopathy [RCV000019383] Chr16:28882564 [GRCh38]
Chr16:28893885 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2366C>T (p.Pro789Leu) single nucleotide variant Brody myopathy [RCV000019384] Chr16:28902228 [GRCh38]
Chr16:28913549 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2101-8T>G single nucleotide variant Brody myopathy [RCV000639618]|not provided [RCV004715323] Chr16:28901855 [GRCh38]
Chr16:28913176 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.2046G>A (p.Ser682=) single nucleotide variant ATP2A1-related disorder [RCV003953137]|Brody myopathy [RCV000639617] Chr16:28900862 [GRCh38]
Chr16:28912183 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1287+5C>T single nucleotide variant Brody myopathy [RCV000533483] Chr16:28894612 [GRCh38]
Chr16:28905933 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1858C>T (p.Arg620Trp) single nucleotide variant not specified [RCV000518511] Chr16:28900674 [GRCh38]
Chr16:28911995 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.9:g.(?_28889809)_(28893910_?)dup duplication Brody myopathy [RCV000547643] Chr16:28889809..28893910 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.109G>A (p.Gly37Ser) single nucleotide variant Brody myopathy [RCV000551373]|Inborn genetic diseases [RCV004023975]|not provided [RCV002298652] Chr16:28878780 [GRCh38]
Chr16:28890101 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.362A>G (p.Glu121Gly) single nucleotide variant Brody myopathy [RCV000537002] Chr16:28882488 [GRCh38]
Chr16:28893809 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.428G>A (p.Arg143Gln) single nucleotide variant Brody myopathy [RCV000547197]|not provided [RCV004691871] Chr16:28882554 [GRCh38]
Chr16:28893875 [GRCh37]
Chr16:16p11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter) single nucleotide variant ATP2A1-related disorder [RCV003900067]|Brody myopathy [RCV000779180]|not provided [RCV000516624] Chr16:28878771 [GRCh38]
Chr16:28890092 [GRCh37]
Chr16:16p11.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004320.6(ATP2A1):c.2011C>T (p.Arg671Ter) single nucleotide variant Brody myopathy [RCV002527457]|not provided [RCV000517128] Chr16:28900827 [GRCh38]
Chr16:28912148 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_004320.6(ATP2A1):c.1742_1743del (p.Ser581fs) microsatellite ATP2A1-related disorder [RCV003409731]|Brody myopathy [RCV000550407]|not provided [RCV000517623] Chr16:28898427..28898428 [GRCh38]
Chr16:28909748..28909749 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.1294G>A (p.Gly432Ser) single nucleotide variant Brody myopathy [RCV000539079] Chr16:28894828 [GRCh38]
Chr16:28906149 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.909_920delinsACGGCATA (p.Val304fs) indel Brody myopathy [RCV000534880] Chr16:28887703..28887714 [GRCh38]
Chr16:28899024..28899035 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs) duplication ATP2A1-related disorder [RCV003392382]|Brody myopathy [RCV000544224]|not provided [RCV000598958] Chr16:28902318..28902319 [GRCh38]
Chr16:28913639..28913640 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 copy number gain See cases [RCV000051829] Chr16:21463739..29249579 [GRCh38]
Chr16:21475060..29260900 [GRCh37]
Chr16:21382561..29168401 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 copy number gain See cases [RCV000051842] Chr16:21602183..29314373 [GRCh38]
Chr16:21613504..29325694 [GRCh37]
Chr16:21521005..29233195 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 copy number gain See cases [RCV000052401] Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1 copy number loss See cases [RCV000052520] Chr16:28456967..30295107 [GRCh38]
Chr16:28468288..30306428 [GRCh37]
Chr16:28375789..30213929 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3 copy number gain See cases [RCV000053118] Chr16:28293803..29531653 [GRCh38]
Chr16:28305124..29542974 [GRCh37]
Chr16:28212625..29450475 [NCBI36]
Chr16:16p12.1-11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3 copy number gain See cases [RCV000053119] Chr16:28589904..29030797 [GRCh38]
Chr16:28601225..29042118 [GRCh37]
Chr16:28508726..28949619 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:28592408-29025786)x3 copy number gain See cases [RCV000053120] Chr16:28592408..29025786 [GRCh38]
Chr16:28603729..29037107 [GRCh37]
Chr16:28511230..28944608 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:28599237-29025786)x3 copy number gain See cases [RCV000053121] Chr16:28599237..29025786 [GRCh38]
Chr16:28610558..29037107 [GRCh37]
Chr16:28518059..28944608 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:28813473-28981076)x3 copy number gain See cases [RCV000053123] Chr16:28813473..28981076 [GRCh38]
Chr16:28824794..28992397 [GRCh37]
Chr16:28732295..28899898 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:28531783-29025786)x1 copy number loss See cases [RCV000053490] Chr16:28531783..29025786 [GRCh38]
Chr16:28543104..29037107 [GRCh37]
Chr16:28450605..28944608 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:28710478-29025786)x3 copy number gain See cases [RCV000053491] Chr16:28710478..29025786 [GRCh38]
Chr16:28721799..29037107 [GRCh37]
Chr16:28629300..28944608 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:28710478-29025786)x1 copy number loss See cases [RCV000053492] Chr16:28710478..29025786 [GRCh38]
Chr16:28721799..29037107 [GRCh37]
Chr16:28629300..28944608 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:28826129-29030797)x1 copy number loss See cases [RCV000053494] Chr16:28826129..29030797 [GRCh38]
Chr16:28837450..29042118 [GRCh37]
Chr16:28744951..28949619 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:28843308-29025786)x3 copy number gain See cases [RCV000053535] Chr16:28843308..29025786 [GRCh38]
Chr16:28854629..29037107 [GRCh37]
Chr16:28762130..28944608 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:28843308-29025786)x1 copy number loss See cases [RCV000053538] Chr16:28843308..29025786 [GRCh38]
Chr16:28854629..29037107 [GRCh37]
Chr16:28762130..28944608 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:28850210-29019738)x1 copy number loss See cases [RCV000133584] Chr16:28850210..29019738 [GRCh38]
Chr16:28861531..29031059 [GRCh37]
Chr16:28769032..28938560 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 copy number loss See cases [RCV000054252] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1 copy number loss See cases [RCV000054253] Chr16:28531783..30183432 [GRCh38]
Chr16:28543104..30194753 [GRCh37]
Chr16:28450605..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3 copy number gain See cases [RCV000054346] Chr16:28366111..30183432 [GRCh38]
Chr16:28377432..30194753 [GRCh37]
Chr16:28284933..30102254 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic|uncertain significance
NM_001145795.1(SH2B1):c.2080C>T (p.Pro694Ser) single nucleotide variant Malignant melanoma [RCV000071077] Chr16:28873629 [GRCh38]
Chr16:28884950 [GRCh37]
Chr16:28792451 [NCBI36]
Chr16:16p11.2		 not provided
NM_004320.6(ATP2A1):c.*64G>A single nucleotide variant Brody myopathy [RCV000291889]|not provided [RCV000991555]|not specified [RCV000082694] Chr16:28904206 [GRCh38]
Chr16:28904206..28904207 [GRCh38]
Chr16:28915527 [GRCh37]
Chr16:28915527..28915528 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.1614G>A (p.Thr538=) single nucleotide variant Brody myopathy [RCV000344136]|not provided [RCV004714428]|not specified [RCV000082695] Chr16:28898301 [GRCh38]
Chr16:28909622 [GRCh37]
Chr16:16p11.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004320.6(ATP2A1):c.1764+6del deletion Brody myopathy [RCV000290200]|not provided [RCV001719849]|not specified [RCV000082696] Chr16:28898457 [GRCh38]
Chr16:28909778 [GRCh37]
Chr16:16p11.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004320.6(ATP2A1):c.2595del (p.Asn866fs) deletion Brody myopathy [RCV000326788]|not provided [RCV000082697] Chr16:28902650 [GRCh38]
Chr16:28913971 [GRCh37]
Chr16:16p11.2		 pathogenic|uncertain significance
NM_004320.6(ATP2A1):c.2774dup (p.Met925fs) duplication Brody myopathy [RCV000381455]|not provided [RCV000082698] Chr16:28903058..28903059 [GRCh38]
Chr16:28914379..28914380 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic|uncertain significance
NM_004320.6(ATP2A1):c.663C>G (p.Gly221=) single nucleotide variant ATP2A1-related disorder [RCV003915107]|Brody myopathy [RCV001082125]|not provided [RCV000723519]|not specified [RCV000082699] Chr16:28887457 [GRCh38]
Chr16:28898778 [GRCh37]
Chr16:16p11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004320.6(ATP2A1):c.678T>C (p.Thr226=) single nucleotide variant Brody myopathy [RCV000371805]|not provided [RCV000991557]|not specified [RCV000082700] Chr16:28887472 [GRCh38]
Chr16:28898793 [GRCh37]
Chr16:16p11.2		 benign
NC_000016.9:g.21530207_29332245del deletion not provided [RCV001030428] Chr16:21530207..29332245 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_004320.6(ATP2A1):c.844C>T (p.Pro282Ser) single nucleotide variant Brody myopathy [RCV001302505] Chr16:28887638 [GRCh38]
Chr16:28898959 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28833437-29046252)x3 copy number gain See cases [RCV000184079] Chr16:28833437..29046252 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:28813473-29032580)x3 copy number gain See cases [RCV000135281] Chr16:28813473..29032580 [GRCh38]
Chr16:28824794..29043901 [GRCh37]
Chr16:28732295..28951402 [NCBI36]
Chr16:16p11.2		 conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:28584316-29019738)x3 copy number gain See cases [RCV000134985] Chr16:28584316..29019738 [GRCh38]
Chr16:28595637..29031059 [GRCh37]
Chr16:28503138..28938560 [NCBI36]
Chr16:16p11.2		 likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28492482-29320029)x3 copy number gain See cases [RCV000135755] Chr16:28492482..29320029 [GRCh38]
Chr16:28503803..29331350 [GRCh37]
Chr16:28411304..29238851 [NCBI36]
Chr16:16p12.1-11.2		 uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x1 copy number loss See cases [RCV000135759] Chr16:28492482..29170875 [GRCh38]
Chr16:28503803..29182196 [GRCh37]
Chr16:28411304..29089697 [NCBI36]
Chr16:16p12.1-11.2		 likely pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3 copy number gain See cases [RCV000135765] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3 copy number gain See cases [RCV000135594] Chr16:22634385..29227323 [GRCh38]
Chr16:22645706..29238644 [GRCh37]
Chr16:22553207..29146145 [NCBI36]
Chr16:16p12.2-11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:28813473-29122414)x1 copy number loss See cases [RCV000137557] Chr16:28813473..29122414 [GRCh38]
Chr16:28824794..29133735 [GRCh37]
Chr16:28732295..29041236 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:28850210-29032639)x1 copy number loss See cases [RCV000137508] Chr16:28850210..29032639 [GRCh38]
Chr16:28861531..29043960 [GRCh37]
Chr16:28769032..28951461 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28487211-29202837)x3 copy number gain See cases [RCV000137571] Chr16:28487211..29202837 [GRCh38]
Chr16:28498532..29214158 [GRCh37]
Chr16:28406033..29121659 [NCBI36]
Chr16:16p12.1-11.2		 uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1 copy number loss See cases [RCV000137580] Chr16:28392832..30186020 [GRCh38]
Chr16:28404153..30197341 [GRCh37]
Chr16:28311654..30104842 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:28722418-29033455)x1 copy number loss See cases [RCV000137599] Chr16:28722418..29033455 [GRCh38]
Chr16:28733739..29044776 [GRCh37]
Chr16:28641240..28952277 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28327346-29342070)x1 copy number loss See cases [RCV000137848] Chr16:28327346..29342070 [GRCh38]
Chr16:28338667..29353391 [GRCh37]
Chr16:28246168..29260892 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-29342070)x1 copy number loss See cases [RCV000137949] Chr16:28392832..29342070 [GRCh38]
Chr16:28404153..29353391 [GRCh37]
Chr16:28311654..29260892 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:28832433-29019750)x3 copy number gain See cases [RCV000138813] Chr16:28832433..29019750 [GRCh38]
Chr16:28843754..29031071 [GRCh37]
Chr16:28751255..28938572 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:28832433-29019750)x1 copy number loss See cases [RCV000138814] Chr16:28832433..29019750 [GRCh38]
Chr16:28843754..29031071 [GRCh37]
Chr16:28751255..28938572 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:28813473-29032639)x1 copy number loss See cases [RCV000138290] Chr16:28813473..29032639 [GRCh38]
Chr16:28824794..29043960 [GRCh37]
Chr16:28732295..28951461 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:28813473-29033455)x1 copy number loss See cases [RCV000138433] Chr16:28813473..29033455 [GRCh38]
Chr16:28824794..29044776 [GRCh37]
Chr16:28732295..28952277 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28392026-29170879)x3 copy number gain See cases [RCV000139217] Chr16:28392026..29170879 [GRCh38]
Chr16:28403347..29182200 [GRCh37]
Chr16:28310848..29089701 [NCBI36]
Chr16:16p12.1-11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:28850245-29019750)x3 copy number gain See cases [RCV000139085] Chr16:28850245..29019750 [GRCh38]
Chr16:28861566..29031071 [GRCh37]
Chr16:28769067..28938572 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 copy number gain See cases [RCV000140235] Chr16:21350622..29202837 [GRCh38]
Chr16:21361943..29214158 [GRCh37]
Chr16:21269444..29121659 [NCBI36]
Chr16:16p12.2-11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:28809422-29033455)x1 copy number loss See cases [RCV000140241] Chr16:28809422..29033455 [GRCh38]
Chr16:28820743..29044776 [GRCh37]
Chr16:28728244..28952277 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1 copy number loss See cases [RCV000139916] Chr16:28392832..30320693 [GRCh38]
Chr16:28404153..30332014 [GRCh37]
Chr16:28311654..30239515 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 copy number gain See cases [RCV000140341] Chr16:27311746..31193406 [GRCh38]
Chr16:27323067..31204727 [GRCh37]
Chr16:27230568..31112228 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-29320029)x1 copy number loss See cases [RCV000139466] Chr16:28392832..29320029 [GRCh38]
Chr16:28404153..29331350 [GRCh37]
Chr16:28311654..29238851 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-29170875)x1 copy number loss See cases [RCV000140694] Chr16:28392832..29170875 [GRCh38]
Chr16:28404153..29182196 [GRCh37]
Chr16:28311654..29089697 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28320366-29415078)x3 copy number gain See cases [RCV000141716] Chr16:28320366..29415078 [GRCh38]
Chr16:28331687..29426399 [GRCh37]
Chr16:28239188..29333900 [NCBI36]
Chr16:16p12.1-11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:28696852-29039870)x1 copy number loss See cases [RCV000141684] Chr16:28696852..29039870 [GRCh38]
Chr16:28708173..29051191 [GRCh37]
Chr16:28615674..28958692 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x3 copy number gain See cases [RCV000142569] Chr16:28492482..29170875 [GRCh38]
Chr16:28503803..29182196 [GRCh37]
Chr16:28411304..29089697 [NCBI36]
Chr16:16p12.1-11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:28677764-29039870)x1 copy number loss See cases [RCV000143300] Chr16:28677764..29039870 [GRCh38]
Chr16:28689085..29051191 [GRCh37]
Chr16:28596586..28958692 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:28807707-29039870)x1 copy number loss See cases [RCV000143530] Chr16:28807707..29039870 [GRCh38]
Chr16:28819028..29051191 [GRCh37]
Chr16:28726529..28958692 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:28850210-29019738)x1 copy number loss See cases [RCV000149553]|See cases [RCV000509060] Chr16:28850210..29019738 [GRCh38]
Chr16:28861531..29031059 [GRCh37]
Chr16:28769032..28938560 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 copy number loss See cases [RCV000148148] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3 copy number gain See cases [RCV000148153] Chr16:28589904..29030797 [GRCh38]
Chr16:28601225..29042118 [GRCh37]
Chr16:28508726..28949619 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28484556-29043450)x1 copy number loss See cases [RCV000258804] Chr16:28484556..29043450 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28631584-29095327)x3 copy number gain See cases [RCV000449070] Chr16:28631584..29095327 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 copy number loss See cases [RCV000449055] Chr16:28826162..29043901 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_004320.6(ATP2A1):c.2464del (p.Arg822fs) deletion Brody myopathy [RCV000529448]|not provided [RCV000598570] Chr16:28902319 [GRCh38]
Chr16:28913640 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_004320.6(ATP2A1):c.137-4C>G single nucleotide variant Brody myopathy [RCV000532712] Chr16:28879497 [GRCh38]
Chr16:28890818 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 copy number gain Breast ductal adenocarcinoma [RCV000207226] Chr16:19590412..29814175 [GRCh37]
Chr16:16p12.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1218G>A (p.Gln406=) single nucleotide variant Brody myopathy [RCV000555119]|not provided [RCV001697023] Chr16:28894538 [GRCh38]
Chr16:28905859 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1427G>A (p.Arg476His) single nucleotide variant ATP2A1-related disorder [RCV003962506]|Brody myopathy [RCV000557567]|not provided [RCV004791546] Chr16:28898007 [GRCh38]
Chr16:28909328 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004320.6(ATP2A1):c.1765-4C>G single nucleotide variant Brody myopathy [RCV000534304] Chr16:28900577 [GRCh38]
Chr16:28911898 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1976A>G (p.Asp659Gly) single nucleotide variant Brody myopathy [RCV000551946] Chr16:28900792 [GRCh38]
Chr16:28912113 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2706C>T (p.Ser902=) single nucleotide variant Brody myopathy [RCV001441233]|not specified [RCV000603757] Chr16:28902873 [GRCh38]
Chr16:28914194 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.-7G>A single nucleotide variant not specified [RCV000604091] Chr16:28878665 [GRCh38]
Chr16:28889986 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1620G>A (p.Pro540=) single nucleotide variant Brody myopathy [RCV001494308] Chr16:28898307 [GRCh38]
Chr16:28909628 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2750C>G (p.Ser917Cys) single nucleotide variant Brody myopathy [RCV000543435] Chr16:28903035 [GRCh38]
Chr16:28914356 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28826162-29043960)x1 copy number loss See cases [RCV000240378] Chr16:28826162..29043960 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28486693-29043960)x1 copy number loss See cases [RCV000240493] Chr16:28486693..29043960 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2310C>T (p.Gly770=) single nucleotide variant Brody myopathy [RCV000265762]|not provided [RCV004791408] Chr16:28902072 [GRCh38]
Chr16:28913393 [GRCh37]
Chr16:16p11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_004320.6(ATP2A1):c.1185-11C>T single nucleotide variant Brody myopathy [RCV000283183] Chr16:28894494 [GRCh38]
Chr16:28905815 [GRCh37]
Chr16:16p11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_004320.6(ATP2A1):c.2560T>C (p.Trp854Arg) single nucleotide variant Brody myopathy [RCV000267137]|not provided [RCV002466488] Chr16:28902615 [GRCh38]
Chr16:28913936 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1560C>T (p.Gly520=) single nucleotide variant ATP2A1-related disorder [RCV003957648]|Brody myopathy [RCV000288600]|not provided [RCV001718664] Chr16:28898247 [GRCh38]
Chr16:28909568 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004320.6(ATP2A1):c.*174A>G single nucleotide variant Brody myopathy [RCV000293160] Chr16:28904316 [GRCh38]
Chr16:28915637 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.450C>T (p.Ile150=) single nucleotide variant Brody myopathy [RCV000276427]|not specified [RCV000606852] Chr16:28882576 [GRCh38]
Chr16:28893897 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_173201.4(ATP2A1):c.*298C>T single nucleotide variant Brody myopathy [RCV000279247]|not provided [RCV004715072] Chr16:28904503 [GRCh38]
Chr16:28915824 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_004320.6(ATP2A1):c.937G>A (p.Ala313Thr) single nucleotide variant Brody myopathy [RCV000263051] Chr16:28888795 [GRCh38]
Chr16:28900116 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1208G>A (p.Arg403Gln) single nucleotide variant Brody myopathy [RCV000342890]|See cases [RCV002252094]|not provided [RCV000766943]|not specified [RCV000424855] Chr16:28894528 [GRCh38]
Chr16:28905849 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.-22C>T single nucleotide variant Brody myopathy [RCV000365204]|not provided [RCV004715071]|not specified [RCV000439412] Chr16:28878650 [GRCh38]
Chr16:28889971 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.1722G>A (p.Glu574=) single nucleotide variant Brody myopathy [RCV000393667]|not provided [RCV000827239] Chr16:28898409 [GRCh38]
Chr16:28909730 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004320.6(ATP2A1):c.220-11C>T single nucleotide variant Brody myopathy [RCV000371054] Chr16:28880904 [GRCh38]
Chr16:28892225 [GRCh37]
Chr16:16p11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_004320.6(ATP2A1):c.1780G>A (p.Val594Met) single nucleotide variant Brody myopathy [RCV000349891]|not provided [RCV001764287] Chr16:28900596 [GRCh38]
Chr16:28911917 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.*103C>T single nucleotide variant Brody myopathy [RCV000328122]|not provided [RCV004694262] Chr16:28904245 [GRCh38]
Chr16:28915566 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1184+12A>G single nucleotide variant Brody myopathy [RCV000377582] Chr16:28894255 [GRCh38]
Chr16:28905576 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.78G>A (p.Pro26=) single nucleotide variant Brody myopathy [RCV000275115] Chr16:28878749 [GRCh38]
Chr16:28890070 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1329A>G (p.Thr443=) single nucleotide variant ATP2A1-related disorder [RCV003920345]|Brody myopathy [RCV000378859]|not provided [RCV000425508] Chr16:28894863 [GRCh38]
Chr16:28906184 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004320.6(ATP2A1):c.2082C>T (p.Tyr694=) single nucleotide variant Brody myopathy [RCV000403220] Chr16:28900898 [GRCh38]
Chr16:28912219 [GRCh37]
Chr16:16p11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_004320.6(ATP2A1):c.188G>A (p.Arg63Gln) single nucleotide variant Brody myopathy [RCV000311761]|Inborn genetic diseases [RCV002522840] Chr16:28879552 [GRCh38]
Chr16:28890873 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1809G>A (p.Pro603=) single nucleotide variant Brody myopathy [RCV000405128]|not provided [RCV002263009]|not specified [RCV000438887] Chr16:28900625 [GRCh38]
Chr16:28911946 [GRCh37]
Chr16:16p11.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004320.6(ATP2A1):c.1935C>T (p.Asn645=) single nucleotide variant Brody myopathy [RCV000314694] Chr16:28900751 [GRCh38]
Chr16:28912072 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004320.6(ATP2A1):c.2524+3G>T single nucleotide variant Brody myopathy [RCV000361810]|not provided [RCV000991556]|not specified [RCV000425932] Chr16:28902389 [GRCh38]
Chr16:28913710 [GRCh37]
Chr16:16p11.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004320.6(ATP2A1):c.*158_*159del deletion Brody myopathy [RCV000387423] Chr16:28904300..28904301 [GRCh38]
Chr16:28915621..28915622 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.675C>T (p.Thr225=) single nucleotide variant Brody myopathy [RCV000317553] Chr16:28887469 [GRCh38]
Chr16:28898790 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1418C>T (p.Ser473Leu) single nucleotide variant Brody myopathy [RCV001047149]|Inborn genetic diseases [RCV003168993]|not provided [RCV000489671] Chr16:28894952 [GRCh38]
Chr16:28906273 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2862+9T>G single nucleotide variant Brody myopathy [RCV000558105] Chr16:28903156 [GRCh38]
Chr16:28914477 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.919A>G (p.Ile307Val) single nucleotide variant Brody myopathy [RCV001963794] Chr16:28887713 [GRCh38]
Chr16:28899034 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1466G>A (p.Arg489Gln) single nucleotide variant Brody myopathy [RCV001851424]|not provided [RCV004794401]|not specified [RCV000516708] Chr16:28898046 [GRCh38]
Chr16:28909367 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1176G>A (p.Glu392=) single nucleotide variant Brody myopathy [RCV000318348] Chr16:28894235 [GRCh38]
Chr16:28905556 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2343G>A (p.Leu781=) single nucleotide variant Brody myopathy [RCV000320864]|not provided [RCV000489693] Chr16:28902205 [GRCh38]
Chr16:28913526 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_173201.4(ATP2A1):c.*287G>A single nucleotide variant Brody myopathy [RCV000406924] Chr16:28904492 [GRCh38]
Chr16:28915813 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1941G>A (p.Glu647=) single nucleotide variant Brody myopathy [RCV000369513] Chr16:28900757 [GRCh38]
Chr16:28912078 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.*203G>C single nucleotide variant Brody myopathy [RCV000352730] Chr16:28904345 [GRCh38]
Chr16:28915666 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.630+16C>G single nucleotide variant Brody myopathy [RCV002063331]|not specified [RCV000599733] Chr16:28887290 [GRCh38]
Chr16:28898611 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_004320.6(ATP2A1):c.2285G>A (p.Arg762His) single nucleotide variant Brody myopathy [RCV000355953] Chr16:28902047 [GRCh38]
Chr16:28913368 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2091C>G (p.Ile697Met) single nucleotide variant Brody myopathy [RCV000301104] Chr16:28900907 [GRCh38]
Chr16:28912228 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.840C>T (p.Asn280=) single nucleotide variant Brody myopathy [RCV000550976] Chr16:28887634 [GRCh38]
Chr16:28898955 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:28825605-29043450)x1 copy number loss See cases [RCV000598778] Chr16:28825605..29043450 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28824794-29042118)x3 copy number gain not provided [RCV000585256] Chr16:28824794..29042118 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2000G>A (p.Arg667Gln) single nucleotide variant Brody myopathy [RCV000639612]|not provided [RCV002473081] Chr16:28900816 [GRCh38]
Chr16:28912137 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1400G>A (p.Arg467Lys) single nucleotide variant Brody myopathy [RCV000639613] Chr16:28894934 [GRCh38]
Chr16:28906255 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2943C>T (p.Asp981=) single nucleotide variant ATP2A1-related disorder [RCV003892448]|Brody myopathy [RCV000639614] Chr16:28903403 [GRCh38]
Chr16:28914724 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1312G>A (p.Gly438Ser) single nucleotide variant Brody myopathy [RCV000815497]|Inborn genetic diseases [RCV003353053] Chr16:28894846 [GRCh38]
Chr16:28906167 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2588C>G (p.Pro863Arg) single nucleotide variant not specified [RCV000412833] Chr16:28902643 [GRCh38]
Chr16:28913964 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2462C>A (p.Pro821His) single nucleotide variant Brody myopathy [RCV000814887] Chr16:28902324 [GRCh38]
Chr16:28913645 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28819028-29051191)x3 copy number gain See cases [RCV000449402] Chr16:28819028..29051191 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 copy number gain See cases [RCV000449403] Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28689085-29043450)x3 copy number gain See cases [RCV000449370] Chr16:28689085..29043450 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28802397-29084772)x3 copy number gain See cases [RCV000446086] Chr16:28802397..29084772 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:28802397-29051191)x3 copy number gain See cases [RCV000446355] Chr16:28802397..29051191 [GRCh37]
Chr16:16p11.2		 conflicting data from submitters
GRCh37/hg19 16p11.2(chr16:28819028-29051191)x1 copy number loss See cases [RCV000446593] Chr16:28819028..29051191 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28808193-29088624)x3 copy number gain See cases [RCV000446202] Chr16:28808193..29088624 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p11.2(chr16:28486693-30197290)x1 copy number loss See cases [RCV000447001] Chr16:28486693..30197290 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28486693-29048572)x1 copy number loss See cases [RCV000447021] Chr16:28486693..29048572 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28819028-29043863)x3 copy number gain See cases [RCV000446179] Chr16:28819028..29043863 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.1706C>T (p.Thr569Ile) single nucleotide variant Brody myopathy [RCV001368165]|not provided [RCV000427187] Chr16:28898393 [GRCh38]
Chr16:28909714 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.839A>G (p.Asn280Ser) single nucleotide variant Brody myopathy [RCV000535655]|not provided [RCV001721337]|not specified [RCV000417845] Chr16:28887633 [GRCh38]
Chr16:28898954 [GRCh37]
Chr16:16p11.2		 benign|likely benign|uncertain significance
NM_004320.6(ATP2A1):c.463+16G>A single nucleotide variant Brody myopathy [RCV002525389]|not specified [RCV000417867] Chr16:28882605 [GRCh38]
Chr16:28893926 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.422A>G (p.Lys141Arg) single nucleotide variant Brody myopathy [RCV001865398]|not provided [RCV000435019] Chr16:28882548 [GRCh38]
Chr16:28893869 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1167C>T (p.Tyr389=) single nucleotide variant ATP2A1-related disorder [RCV003912692]|Brody myopathy [RCV000525108]|not provided [RCV001311438]|not specified [RCV000424551] Chr16:28894226 [GRCh38]
Chr16:28905547 [GRCh37]
Chr16:16p11.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004320.6(ATP2A1):c.114C>T (p.Leu38=) single nucleotide variant not specified [RCV000428056] Chr16:28878785 [GRCh38]
Chr16:28890106 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.-12G>A single nucleotide variant Brody myopathy [RCV001117782]|not specified [RCV000418549] Chr16:28878660 [GRCh38]
Chr16:28889981 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1540G>C (p.Val514Leu) single nucleotide variant Brody myopathy [RCV000531927]|Inborn genetic diseases [RCV002522514]|not provided [RCV000418726] Chr16:28898120 [GRCh38]
Chr16:28909441 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.640A>G (p.Ile214Val) single nucleotide variant Brody myopathy [RCV001865404]|not provided [RCV000767192]|not specified [RCV000438836] Chr16:28887434 [GRCh38]
Chr16:28898755 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2458C>A (p.Pro820Thr) single nucleotide variant ATP2A1-related disorder [RCV004745378]|Brody myopathy [RCV000819205]|Inborn genetic diseases [RCV003343822]|See cases [RCV002252127]|not provided [RCV000766944]|not specified [RCV000432113] Chr16:28902320 [GRCh38]
Chr16:28913641 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_004320.6(ATP2A1):c.2862+15G>A single nucleotide variant Brody myopathy [RCV002058949]|not specified [RCV000442791] Chr16:28903162 [GRCh38]
Chr16:28914483 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2862+20G>C single nucleotide variant Brody myopathy [RCV002059971]|not specified [RCV000443022] Chr16:28903167 [GRCh38]
Chr16:28914488 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1184+1G>A single nucleotide variant Brody myopathy [RCV000812735]|not provided [RCV000424927] Chr16:28894244 [GRCh38]
Chr16:28905565 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_004320.6(ATP2A1):c.1370C>T (p.Thr457Met) single nucleotide variant Brody myopathy [RCV000690255]|not provided [RCV000425443] Chr16:28894904 [GRCh38]
Chr16:28906225 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.870C>T (p.Arg290=) single nucleotide variant ATP2A1-related disorder [RCV003970196]|Brody myopathy [RCV000524732]|not provided [RCV001537830]|not specified [RCV000432544] Chr16:28887664 [GRCh38]
Chr16:28898985 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_004320.6(ATP2A1):c.658T>C (p.Leu220=) single nucleotide variant not specified [RCV000436023] Chr16:28887452 [GRCh38]
Chr16:28898773 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1974C>T (p.Phe658=) single nucleotide variant Brody myopathy [RCV000541745]|not provided [RCV001704451]|not specified [RCV000439639] Chr16:28900790 [GRCh38]
Chr16:28912111 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_004320.6(ATP2A1):c.2634G>A (p.Glu878=) single nucleotide variant Brody myopathy [RCV001435931]|not specified [RCV000432734] Chr16:28902801 [GRCh38]
Chr16:28914122 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:28808193-29043863)x3 copy number gain See cases [RCV000445909] Chr16:28808193..29043863 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.1815G>C (p.Lys605Asn) single nucleotide variant not provided [RCV000422607] Chr16:28900631 [GRCh38]
Chr16:28911952 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2776C>T (p.Pro926Ser) single nucleotide variant Brody myopathy [RCV000697309]|Inborn genetic diseases [RCV002519546]|not provided [RCV000440267] Chr16:28903061 [GRCh38]
Chr16:28914382 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1851C>T (p.Ala617=) single nucleotide variant Brody myopathy [RCV001494240]|not provided [RCV000527913] Chr16:28900667 [GRCh38]
Chr16:28911988 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2862G>A (p.Pro954=) single nucleotide variant not provided [RCV000440661] Chr16:28903147 [GRCh38]
Chr16:28914468 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.272C>T (p.Pro91Leu) single nucleotide variant Brody myopathy [RCV001117784]|not provided [RCV000433709] Chr16:28880967 [GRCh38]
Chr16:28892288 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1948G>A (p.Asp650Asn) single nucleotide variant Brody myopathy [RCV000527003]|not provided [RCV001721326] Chr16:28900764 [GRCh38]
Chr16:28912085 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_004320.6(ATP2A1):c.245A>G (p.Glu82Gly) single nucleotide variant Brody myopathy [RCV003144259]|not provided [RCV000444756] Chr16:28880940 [GRCh38]
Chr16:28892261 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28802397-29043450)x3 copy number gain See cases [RCV000448522] Chr16:28802397..29043450 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28824857-29088624)x3 copy number gain See cases [RCV000448964] Chr16:28824857..29088624 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_28370872)_(29324276_?)del deletion Schizophrenia [RCV000416901] Chr16:28370872..29324276 [GRCh38]
Chr16:28382193..29335597 [GRCh37]
Chr16:28289694..29243098 [NCBI36]
Chr16:16p12.1-11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 copy number loss See cases [RCV000448084] Chr16:28826162..29043901 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_004320.6(ATP2A1):c.1756G>A (p.Glu586Lys) single nucleotide variant not provided [RCV000480260] Chr16:28898443 [GRCh38]
Chr16:28909764 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2435C>T (p.Pro812Leu) single nucleotide variant not provided [RCV000485562] Chr16:28902297 [GRCh38]
Chr16:28913618 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.118+2dup duplication not specified [RCV000478035] Chr16:28878790..28878791 [GRCh38]
Chr16:28890111..28890112 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1561G>A (p.Val521Ile) single nucleotide variant Brody myopathy [RCV000639610]|Inborn genetic diseases [RCV004023202]|not provided [RCV000478414] Chr16:28898248 [GRCh38]
Chr16:28909569 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2758C>T (p.Gln920Ter) single nucleotide variant Brody myopathy [RCV000685608]|not provided [RCV000479735] Chr16:28903043 [GRCh38]
Chr16:28914364 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_004320.6(ATP2A1):c.1546-6T>A single nucleotide variant not provided [RCV000498816] Chr16:28898227 [GRCh38]
Chr16:28909548 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28763834-29043863)x1 copy number loss See cases [RCV000510206] Chr16:28763834..29043863 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28384463-29343462)x1 copy number loss See cases [RCV000510329] Chr16:28384463..29343462 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2536G>A (p.Ala846Thr) single nucleotide variant Brody myopathy [RCV001084693]|not provided [RCV000710660] Chr16:28902591 [GRCh38]
Chr16:28913912 [GRCh37]
Chr16:16p11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004320.6(ATP2A1):c.1207C>T (p.Arg403Trp) single nucleotide variant ATP2A1-related disorder [RCV003962364]|Brody myopathy [RCV001084219]|not provided [RCV000498288] Chr16:28894527 [GRCh38]
Chr16:28905848 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
NM_004320.6(ATP2A1):c.871G>A (p.Gly291Arg) single nucleotide variant Brody myopathy [RCV001351111]|not provided [RCV000494126] Chr16:28887665 [GRCh38]
Chr16:28898986 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28819028-29043972)x1 copy number loss See cases [RCV000511913] Chr16:28819028..29043972 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28441538-30178406)x1 copy number loss See cases [RCV000511533] Chr16:28441538..30178406 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.691G>A (p.Glu231Lys) single nucleotide variant Brody myopathy [RCV003144290]|not provided [RCV000493400] Chr16:28887485 [GRCh38]
Chr16:28898806 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28371467-29426399)x4 copy number gain See cases [RCV000511109] Chr16:28371467..29426399 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28466730-29427247)x1 copy number loss See cases [RCV000510933] Chr16:28466730..29427247 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 copy number loss See cases [RCV000511271] Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_004320.6(ATP2A1):c.2862+1G>A single nucleotide variant Brody myopathy [RCV004796243]|not provided [RCV000585619] Chr16:28903148 [GRCh38]
Chr16:28914469 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p11.2(chr16:28861531-29031059) copy number loss Intellectual disability, moderate [RCV000626507] Chr16:28861531..29031059 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.1389G>A (p.Ser463=) single nucleotide variant Brody myopathy [RCV003517248]|not specified [RCV000606998] Chr16:28894923 [GRCh38]
Chr16:28906244 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2535T>C (p.Gly845=) single nucleotide variant Brody myopathy [RCV000639609] Chr16:28902590 [GRCh38]
Chr16:28913911 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.204C>T (p.Ala68=) single nucleotide variant Brody myopathy [RCV000639619] Chr16:28879568 [GRCh38]
Chr16:28890889 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_004320.6(ATP2A1):c.195C>A (p.Leu65=) single nucleotide variant Brody myopathy [RCV000639616] Chr16:28879559 [GRCh38]
Chr16:28890880 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.631-10C>T single nucleotide variant not specified [RCV000610427] Chr16:28887415 [GRCh38]
Chr16:28898736 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1506A>G (p.Lys502=) single nucleotide variant not specified [RCV000613723] Chr16:28898086 [GRCh38]
Chr16:28909407 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1323C>T (p.Thr441=) single nucleotide variant Brody myopathy [RCV002066617]|not specified [RCV000613892] Chr16:28894857 [GRCh38]
Chr16:28906178 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1 copy number loss Chromosome 16p12.2-p11.2 deletion syndrome [RCV003315282] Chr16:21475039..29043958 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_004320.6(ATP2A1):c.2772G>A (p.Arg924=) single nucleotide variant Brody myopathy [RCV002531519]|not specified [RCV000611883] Chr16:28903057 [GRCh38]
Chr16:28914378 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1095+11G>C single nucleotide variant not specified [RCV000614832] Chr16:28888964 [GRCh38]
Chr16:28900285 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2361G>T (p.Leu787=) single nucleotide variant not specified [RCV000604983] Chr16:28902223 [GRCh38]
Chr16:28913544 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.631-17C>T single nucleotide variant Brody myopathy [RCV002063084]|not specified [RCV000605148] Chr16:28887408 [GRCh38]
Chr16:28898729 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1800G>A (p.Leu600=) single nucleotide variant ATP2A1-related disorder [RCV003945513]|Brody myopathy [RCV001501344]|not specified [RCV000604257] Chr16:28900616 [GRCh38]
Chr16:28911937 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.733G>A (p.Asp245Asn) single nucleotide variant ATP2A1-related disorder [RCV003928079]|Brody myopathy [RCV000639611]|Inborn genetic diseases [RCV002533241] Chr16:28887527 [GRCh38]
Chr16:28898848 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004320.6(ATP2A1):c.1158C>T (p.Gly386=) single nucleotide variant Brody myopathy [RCV000639615] Chr16:28894217 [GRCh38]
Chr16:28905538 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 copy number gain See cases [RCV000512428] Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 copy number gain See cases [RCV000512478] Chr16:21379628..29351826 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_004320.6(ATP2A1):c.1287G>A (p.Glu429=) single nucleotide variant Brody myopathy [RCV001816658]|not provided [RCV000658413] Chr16:28894607 [GRCh38]
Chr16:28905928 [GRCh37]
Chr16:16p11.2		 pathogenic|uncertain significance
NM_004320.6(ATP2A1):c.195CCT[1] (p.Leu67del) microsatellite Brody myopathy [RCV000700373]|not provided [RCV001726309] Chr16:28879557..28879559 [GRCh38]
Chr16:28890878..28890880 [GRCh37]
Chr16:16p11.2		 likely pathogenic|uncertain significance
GRCh37/hg19 16p11.2(chr16:28389576-29438326)x1 copy number loss not provided [RCV000683798] Chr16:28389576..29438326 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28689085-29051191)x1 copy number loss not provided [RCV000683799] Chr16:28689085..29051191 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28747520-29051191)x1 copy number loss not provided [RCV000683800] Chr16:28747520..29051191 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28763834-29051191)x1 copy number loss not provided [RCV000683801] Chr16:28763834..29051191 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28802397-29051191)x1 copy number loss not provided [RCV000683802] Chr16:28802397..29051191 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28819028-29051191)x1 copy number loss not provided [RCV000683803] Chr16:28819028..29051191 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28819028-29051191)x3 copy number gain not provided [RCV000683804] Chr16:28819028..29051191 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28824490-29043450)x3 copy number gain not provided [RCV000683805] Chr16:28824490..29043450 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 copy number loss not provided [RCV000683786] Chr16:21379628..29379768 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_004320.6(ATP2A1):c.1015G>A (p.Val339Ile) single nucleotide variant Brody myopathy [RCV000701775] Chr16:28888873 [GRCh38]
Chr16:28900194 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.329G>A (p.Arg110Gln) single nucleotide variant Brody myopathy [RCV000701840] Chr16:28882455 [GRCh38]
Chr16:28893776 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.521G>A (p.Arg174Gln) single nucleotide variant Brody myopathy [RCV000688052]|Inborn genetic diseases [RCV003258921]|not provided [RCV001766470] Chr16:28884632 [GRCh38]
Chr16:28895953 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.57_60del (p.Ser19fs) microsatellite Brody myopathy [RCV000700070] Chr16:28878723..28878726 [GRCh38]
Chr16:28890044..28890047 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.550T>G (p.Ser184Ala) single nucleotide variant Brody myopathy [RCV000693087] Chr16:28887194 [GRCh38]
Chr16:28898515 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.433A>G (p.Ile145Val) single nucleotide variant Brody myopathy [RCV000703994] Chr16:28882559 [GRCh38]
Chr16:28893880 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2209GAC[1] (p.Asp738del) microsatellite Brody myopathy [RCV000687494] Chr16:28901971..28901973 [GRCh38]
Chr16:28913292..28913294 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.136+2dup duplication Brody myopathy [RCV000703882] Chr16:28879117..28879118 [GRCh38]
Chr16:28890438..28890439 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.325-2A>T single nucleotide variant Brody myopathy [RCV000707425] Chr16:28882449 [GRCh38]
Chr16:28893770 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NC_000016.10:g.(?_28824392)_(28904205_?)del deletion Brody myopathy [RCV000707887] Chr16:28824392..28904205 [GRCh38]
Chr16:28835713..28915526 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2944G>A (p.Glu982Lys) single nucleotide variant Brody myopathy [RCV000696388] Chr16:28903404 [GRCh38]
Chr16:28914725 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1491T>G (p.Tyr497Ter) single nucleotide variant Brody myopathy [RCV000694187] Chr16:28898071 [GRCh38]
Chr16:28909392 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2632G>A (p.Glu878Lys) single nucleotide variant Brody myopathy [RCV000691809] Chr16:28902799 [GRCh38]
Chr16:28914120 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2678C>T (p.Ala893Val) single nucleotide variant Brody myopathy [RCV000703511] Chr16:28902845 [GRCh38]
Chr16:28914166 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1283A>G (p.Asn428Ser) single nucleotide variant Brody myopathy [RCV000816964]|not provided [RCV000710657] Chr16:28894603 [GRCh38]
Chr16:28905924 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.159G>A (p.Val53=) single nucleotide variant ATP2A1-related disorder [RCV003965461]|Brody myopathy [RCV001080238]|not provided [RCV000710658] Chr16:28879523 [GRCh38]
Chr16:28890844 [GRCh37]
Chr16:16p11.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004320.6(ATP2A1):c.2455C>T (p.Arg819Cys) single nucleotide variant Brody myopathy [RCV003144577]|not provided [RCV000710659] Chr16:28902317 [GRCh38]
Chr16:28913638 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28371467-29416001)x3 copy number gain not provided [RCV000846620] Chr16:28371467..29416001 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2014C>T (p.Arg672Cys) single nucleotide variant Brody myopathy [RCV000815610] Chr16:28900830 [GRCh38]
Chr16:28912151 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NC_000016.10:g.(?_28351819)_(29325073_?)del deletion Schizophrenia [RCV000754181] Chr16:28351819..29325073 [GRCh38]
Chr16:16p12.1-11.2		 pathogenic
NM_004320.6(ATP2A1):c.*38-153dup duplication not provided [RCV001680515] Chr16:28904018..28904019 [GRCh38]
Chr16:28915339..28915340 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.136+106C>G single nucleotide variant not provided [RCV001668729] Chr16:28879222 [GRCh38]
Chr16:28890543 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.324+7G>A single nucleotide variant Brody myopathy [RCV000873771] Chr16:28881026 [GRCh38]
Chr16:28892347 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1789G>A (p.Val597Met) single nucleotide variant not provided [RCV000762217] Chr16:28900605 [GRCh38]
Chr16:28911926 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:28814284-29129367)x3 copy number gain not provided [RCV001786532] Chr16:28814284..29129367 [GRCh38]
Chr16:16p11.2		 not provided
NM_004320.6(ATP2A1):c.1014C>T (p.Ser338=) single nucleotide variant not provided [RCV000877010] Chr16:28888872 [GRCh38]
Chr16:28900193 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1998G>A (p.Gln666=) single nucleotide variant Brody myopathy [RCV001501841] Chr16:28900814 [GRCh38]
Chr16:28912135 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.195C>T (p.Leu65=) single nucleotide variant Brody myopathy [RCV001503179] Chr16:28879559 [GRCh38]
Chr16:28890880 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1420-6C>T single nucleotide variant Brody myopathy [RCV000877041] Chr16:28897994 [GRCh38]
Chr16:28909315 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.929-9T>C single nucleotide variant not provided [RCV000877050] Chr16:28888778 [GRCh38]
Chr16:28900099 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.897C>T (p.Ala299=) single nucleotide variant Brody myopathy [RCV001392598] Chr16:28887691 [GRCh38]
Chr16:28899012 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.405G>A (p.Lys135=) single nucleotide variant Brody myopathy [RCV001414042] Chr16:28882531 [GRCh38]
Chr16:28893852 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2157C>T (p.Ala719=) single nucleotide variant not provided [RCV000926440] Chr16:28901919 [GRCh38]
Chr16:28913240 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1457A>T (p.Glu486Val) single nucleotide variant Brody myopathy [RCV001055073] Chr16:28898037 [GRCh38]
Chr16:28909358 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.427C>T (p.Arg143Trp) single nucleotide variant not provided [RCV000996248] Chr16:28882553 [GRCh38]
Chr16:28893874 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2710C>G (p.Leu904Val) single nucleotide variant Brody myopathy [RCV001055612]|not provided [RCV001760001] Chr16:28902877 [GRCh38]
Chr16:28914198 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2840T>C (p.Ile947Thr) single nucleotide variant Brody myopathy [RCV001038786] Chr16:28903125 [GRCh38]
Chr16:28914446 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1442A>T (p.Lys481Met) single nucleotide variant Brody myopathy [RCV001039083]|Inborn genetic diseases [RCV002553051]|not specified [RCV002265932] Chr16:28898022 [GRCh38]
Chr16:28909343 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2434C>T (p.Pro812Ser) single nucleotide variant Brody myopathy [RCV001038024]|Inborn genetic diseases [RCV004031054] Chr16:28902296 [GRCh38]
Chr16:28913617 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2284C>T (p.Arg762Cys) single nucleotide variant Brody myopathy [RCV001089652] Chr16:28902046 [GRCh38]
Chr16:28913367 [GRCh37]
Chr16:16p11.2		 likely pathogenic|uncertain significance
NM_004320.6(ATP2A1):c.1961C>A (p.Thr654Lys) single nucleotide variant Brody myopathy [RCV001037359]|not provided [RCV003482323] Chr16:28900777 [GRCh38]
Chr16:28912098 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1025T>C (p.Leu342Pro) single nucleotide variant Brody myopathy [RCV001060993]|not provided [RCV004697039] Chr16:28888883 [GRCh38]
Chr16:28900204 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28734571-29043450) copy number loss Distal 16p11.2 microdeletion syndrome [RCV000767609] Chr16:28734571..29043450 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.929-38_929-14del microsatellite not provided [RCV000827103] Chr16:28888721..28888745 [GRCh38]
Chr16:28900042..28900066 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2182A>G (p.Lys728Glu) single nucleotide variant Brody myopathy [RCV000814179] Chr16:28901944 [GRCh38]
Chr16:28913265 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.629C>T (p.Ser210Leu) single nucleotide variant Brody myopathy [RCV000814449] Chr16:28887273 [GRCh38]
Chr16:28898594 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.296T>C (p.Ile99Thr) single nucleotide variant Brody myopathy [RCV000816752] Chr16:28880991 [GRCh38]
Chr16:28892312 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1384_1385delinsGC (p.Leu462Ala) indel Brody myopathy [RCV000822353] Chr16:28894918..28894919 [GRCh38]
Chr16:28906239..28906240 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2253C>T (p.Arg751=) single nucleotide variant Brody myopathy [RCV003768720] Chr16:28902015 [GRCh38]
Chr16:28913336 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.765G>A (p.Glu255=) single nucleotide variant Brody myopathy [RCV000960705] Chr16:28887559 [GRCh38]
Chr16:28898880 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity
NM_004320.6(ATP2A1):c.1254C>T (p.Ala418=) single nucleotide variant Brody myopathy [RCV001463981] Chr16:28894574 [GRCh38]
Chr16:28905895 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.342C>T (p.Asn114=) single nucleotide variant ATP2A1-related disorder [RCV003895348]|Brody myopathy [RCV001467514]|not provided [RCV000874480] Chr16:28882468 [GRCh38]
Chr16:28893789 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.435C>T (p.Ile145=) single nucleotide variant Brody myopathy [RCV001480958] Chr16:28882561 [GRCh38]
Chr16:28893882 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2175C>T (p.Ala725=) single nucleotide variant Brody myopathy [RCV000983462] Chr16:28901937 [GRCh38]
Chr16:28913258 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2744+8C>T single nucleotide variant Brody myopathy [RCV000876916] Chr16:28902919 [GRCh38]
Chr16:28914240 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:28529940-28906458) copy number loss Distal 16p11.2 microdeletion syndrome [RCV000767608] Chr16:28529940..28906458 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.1953C>T (p.Arg651=) single nucleotide variant Brody myopathy [RCV000874985] Chr16:28900769 [GRCh38]
Chr16:28912090 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:28349949-29342589) copy number loss Distal 16p11.2 microdeletion syndrome [RCV002280653] Chr16:28349949..29342589 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.118+21C>A single nucleotide variant not provided [RCV000837653] Chr16:28878810 [GRCh38]
Chr16:28890131 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.325-240A>G single nucleotide variant not provided [RCV000837654] Chr16:28882211 [GRCh38]
Chr16:28893532 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.2545G>A (p.Val849Met) single nucleotide variant Brody myopathy [RCV000821338] Chr16:28902600 [GRCh38]
Chr16:28913921 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.464-236G>A single nucleotide variant not provided [RCV000839736] Chr16:28884339 [GRCh38]
Chr16:28895660 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.2521G>A (p.Gly841Arg) single nucleotide variant Brody myopathy [RCV000821683] Chr16:28902383 [GRCh38]
Chr16:28913704 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.464-225C>T single nucleotide variant not provided [RCV000838015] Chr16:28884350 [GRCh38]
Chr16:28895671 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.2980+125G>T single nucleotide variant not provided [RCV000838016] Chr16:28903565 [GRCh38]
Chr16:28914886 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.2959G>A (p.Val987Ile) single nucleotide variant Brody myopathy [RCV000800200] Chr16:28903419 [GRCh38]
Chr16:28914740 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.868C>T (p.Arg290Cys) single nucleotide variant Brody myopathy [RCV000801409] Chr16:28887662 [GRCh38]
Chr16:28898983 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1910G>A (p.Arg637Gln) single nucleotide variant Brody myopathy [RCV000801735] Chr16:28900726 [GRCh38]
Chr16:28912047 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2414C>T (p.Thr805Ile) single nucleotide variant Brody myopathy [RCV000823484]|Inborn genetic diseases [RCV002535987] Chr16:28902276 [GRCh38]
Chr16:28913597 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.545-295A>G single nucleotide variant not provided [RCV000832856] Chr16:28886894 [GRCh38]
Chr16:28898215 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2239G>A (p.Val747Met) single nucleotide variant Brody myopathy [RCV000808173] Chr16:28902001 [GRCh38]
Chr16:28913322 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.974G>A (p.Arg325Gln) single nucleotide variant Brody myopathy [RCV000797423] Chr16:28888832 [GRCh38]
Chr16:28900153 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_173201.3(ATP2A1):c.-507C>A single nucleotide variant not provided [RCV000830380] Chr16:28878165 [GRCh38]
Chr16:28878165..28878166 [GRCh38]
Chr16:28889486 [GRCh37]
Chr16:28889486..28889487 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.251C>T (p.Thr84Ile) single nucleotide variant Brody myopathy [RCV000800496] Chr16:28880946 [GRCh38]
Chr16:28892267 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1095+185C>G single nucleotide variant not provided [RCV000838635] Chr16:28889138 [GRCh38]
Chr16:28900459 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1288-30G>A single nucleotide variant not provided [RCV000838636] Chr16:28894792 [GRCh38]
Chr16:28906113 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.479C>T (p.Pro160Leu) single nucleotide variant Brody myopathy [RCV000806978] Chr16:28884590 [GRCh38]
Chr16:28895911 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1810C>T (p.Arg604Cys) single nucleotide variant Brody myopathy [RCV000807952] Chr16:28900626 [GRCh38]
Chr16:28911947 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1136T>C (p.Leu379Pro) single nucleotide variant Brody myopathy [RCV000810361] Chr16:28894195 [GRCh38]
Chr16:28905516 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2771G>A (p.Arg924Gln) single nucleotide variant Brody myopathy [RCV000811574] Chr16:28903056 [GRCh38]
Chr16:28914377 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.328C>T (p.Arg110Trp) single nucleotide variant Brody myopathy [RCV000792109]|Inborn genetic diseases [RCV002535861] Chr16:28882454 [GRCh38]
Chr16:28893775 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2744+1G>A single nucleotide variant Brody myopathy [RCV000825511] Chr16:28902912 [GRCh38]
Chr16:28914233 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_004320.6(ATP2A1):c.2610+40G>A single nucleotide variant not provided [RCV000839740] Chr16:28902705 [GRCh38]
Chr16:28914026 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.2100+37C>T single nucleotide variant not provided [RCV000839864] Chr16:28900953 [GRCh38]
Chr16:28912274 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.325-201T>C single nucleotide variant not provided [RCV000837655] Chr16:28882250 [GRCh38]
Chr16:28882250..28882251 [GRCh38]
Chr16:28893571 [GRCh37]
Chr16:28893571..28893572 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.544+39C>T single nucleotide variant not provided [RCV000837656] Chr16:28884694 [GRCh38]
Chr16:28896015 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.1288-59G>C single nucleotide variant not provided [RCV000837657] Chr16:28894763 [GRCh38]
Chr16:28906084 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.2524+80T>C single nucleotide variant not provided [RCV000837658] Chr16:28902466 [GRCh38]
Chr16:28913787 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.*37+155G>A single nucleotide variant not provided [RCV000837670] Chr16:28903896 [GRCh38]
Chr16:28915217 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.2366C>G (p.Pro789Arg) single nucleotide variant Brody myopathy [RCV000802040] Chr16:28902228 [GRCh38]
Chr16:28913549 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.208T>C (p.Cys70Arg) single nucleotide variant Brody myopathy [RCV000803096] Chr16:28879572 [GRCh38]
Chr16:28890893 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.971G>A (p.Arg324His) single nucleotide variant Brody myopathy [RCV000808813]|not provided [RCV001289249]|not specified [RCV002265888] Chr16:28888829 [GRCh38]
Chr16:28900150 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2311G>T (p.Glu771Ter) single nucleotide variant Brody myopathy [RCV000810209]|not provided [RCV001289247] Chr16:28902073 [GRCh38]
Chr16:28913394 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_004320.6(ATP2A1):c.2958C>G (p.Phe986Leu) single nucleotide variant Brody myopathy [RCV000811550] Chr16:28903418 [GRCh38]
Chr16:28914739 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1909C>T (p.Arg637Trp) single nucleotide variant Brody myopathy [RCV000793332] Chr16:28900725 [GRCh38]
Chr16:28912046 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.295A>C (p.Ile99Leu) single nucleotide variant Brody myopathy [RCV000796561]|Inborn genetic diseases [RCV002534603] Chr16:28880990 [GRCh38]
Chr16:28892311 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1962G>A (p.Thr654=) single nucleotide variant Brody myopathy [RCV000800472] Chr16:28900778 [GRCh38]
Chr16:28912099 [GRCh37]
Chr16:16p11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_004320.6(ATP2A1):c.1764_1764+2delinsTGG indel Brody myopathy [RCV000801197] Chr16:28898451..28898453 [GRCh38]
Chr16:28909772..28909774 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_004320.6(ATP2A1):c.*38-68A>C single nucleotide variant not provided [RCV000837780] Chr16:28904112 [GRCh38]
Chr16:28915433 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.1566C>T (p.Ile522=) single nucleotide variant Brody myopathy [RCV000875984] Chr16:28898253 [GRCh38]
Chr16:28909574 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2631C>T (p.Thr877=) single nucleotide variant Brody myopathy [RCV000875022] Chr16:28902798 [GRCh38]
Chr16:28914119 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2371C>T (p.Gln791Ter) single nucleotide variant Brody myopathy [RCV000798965] Chr16:28902233 [GRCh38]
Chr16:28913554 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.1990G>A (p.Ala664Thr) single nucleotide variant Brody myopathy [RCV000802411] Chr16:28900806 [GRCh38]
Chr16:28912127 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.869G>A (p.Arg290His) single nucleotide variant Brody myopathy [RCV000805823] Chr16:28887663 [GRCh38]
Chr16:28898984 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1185-95C>T single nucleotide variant not provided [RCV000839082] Chr16:28894410 [GRCh38]
Chr16:28905731 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1296T>C (p.Gly432=) single nucleotide variant not provided [RCV000827625] Chr16:28894830 [GRCh38]
Chr16:28906151 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.400C>T (p.Arg134Cys) single nucleotide variant Brody myopathy [RCV001046100]|Inborn genetic diseases [RCV003363068] Chr16:28882526 [GRCh38]
Chr16:28893847 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1314C>T (p.Gly438=) single nucleotide variant Brody myopathy [RCV001116434] Chr16:28894848 [GRCh38]
Chr16:28906169 [GRCh37]
Chr16:16p11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_004320.6(ATP2A1):c.1936G>A (p.Glu646Lys) single nucleotide variant Brody myopathy [RCV001117887] Chr16:28900752 [GRCh38]
Chr16:28912073 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28466730-30178406)x1 copy number loss not provided [RCV001006789] Chr16:28466730..30178406 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.1300T>C (p.Tyr434His) single nucleotide variant Brody myopathy [RCV001046864]|Inborn genetic diseases [RCV004031457] Chr16:28894834 [GRCh38]
Chr16:28906155 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28466730-30177916)x1 copy number loss not provided [RCV000848428] Chr16:28466730..30177916 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28878826-28988225)x3 copy number gain not provided [RCV000845884] Chr16:28878826..28988225 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2911C>T (p.Leu971Phe) single nucleotide variant Brody myopathy [RCV001045829] Chr16:28903371 [GRCh38]
Chr16:28914692 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.580G>T (p.Val194Phe) single nucleotide variant Brody myopathy [RCV001230125] Chr16:28887224 [GRCh38]
Chr16:28898545 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.137-5C>G single nucleotide variant Brody myopathy [RCV001227301] Chr16:28879496 [GRCh38]
Chr16:28890817 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.128C>T (p.Ala43Val) single nucleotide variant Brody myopathy [RCV001240041]|Inborn genetic diseases [RCV002567942]|not provided [RCV002265014] Chr16:28879108 [GRCh38]
Chr16:28890429 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1717C>T (p.Arg573Ter) single nucleotide variant Brody myopathy [RCV001224046] Chr16:28898404 [GRCh38]
Chr16:28909725 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.719C>T (p.Ala240Val) single nucleotide variant Brody myopathy [RCV001224168] Chr16:28887513 [GRCh38]
Chr16:28898834 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1285G>A (p.Glu429Lys) single nucleotide variant Brody myopathy [RCV001246122] Chr16:28894605 [GRCh38]
Chr16:28905926 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1570C>T (p.Arg524Cys) single nucleotide variant Brody myopathy [RCV001225560] Chr16:28898257 [GRCh38]
Chr16:28909578 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2423G>A (p.Gly808Asp) single nucleotide variant Brody myopathy [RCV001226083] Chr16:28902285 [GRCh38]
Chr16:28913606 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.*158A>T single nucleotide variant Brody myopathy [RCV001121437] Chr16:28904300 [GRCh38]
Chr16:28915621 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.-15C>T single nucleotide variant Brody myopathy [RCV001117781] Chr16:28878657 [GRCh38]
Chr16:28889978 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28466730-30191848)x1 copy number loss not provided [RCV000846340] Chr16:28466730..30191848 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.*234T>G single nucleotide variant Brody myopathy [RCV001116543] Chr16:28904376 [GRCh38]
Chr16:28915697 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.9:g.(?_27441393)_(28899063_?)del deletion not provided [RCV003105580] Chr16:27441393..28899063 [GRCh37]
Chr16:16p12.1-11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2980+77C>T single nucleotide variant not provided [RCV001671219] Chr16:28903517 [GRCh38]
Chr16:28914838 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.463+317C>A single nucleotide variant not provided [RCV001671046] Chr16:28882906 [GRCh38]
Chr16:28894227 [GRCh37]
Chr16:16p11.2		 benign
NC_000016.10:g.28878387del deletion not provided [RCV001534700] Chr16:28878387 [GRCh38]
Chr16:28889708 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.2525-30_2525-29insA insertion not provided [RCV001572095] Chr16:28902550..28902551 [GRCh38]
Chr16:28913871..28913872 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.325-45_325-44del microsatellite not provided [RCV001710486] Chr16:28882404..28882405 [GRCh38]
Chr16:28893725..28893726 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.464-228G>C single nucleotide variant not provided [RCV001563071] Chr16:28884347 [GRCh38]
Chr16:28895668 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1324G>A (p.Glu442Lys) single nucleotide variant not provided [RCV001580046] Chr16:28894858 [GRCh38]
Chr16:28906179 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.463+169del deletion not provided [RCV001718386] Chr16:28882752 [GRCh38]
Chr16:28894073 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.2836C>G (p.Leu946Val) single nucleotide variant Brody myopathy [RCV002569080]|not provided [RCV001575680] Chr16:28903121 [GRCh38]
Chr16:28914442 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2334C>T (p.Thr778=) single nucleotide variant Brody myopathy [RCV000887157] Chr16:28902196 [GRCh38]
Chr16:28913517 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2400C>T (p.Asp800=) single nucleotide variant Brody myopathy [RCV001488385] Chr16:28902262 [GRCh38]
Chr16:28913583 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1766C>T (p.Thr589Met) single nucleotide variant Brody myopathy [RCV000875025] Chr16:28900582 [GRCh38]
Chr16:28911903 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity
NM_004320.6(ATP2A1):c.2721C>T (p.Ile907=) single nucleotide variant Brody myopathy [RCV001463553]|not provided [RCV000928920] Chr16:28902888 [GRCh38]
Chr16:28914209 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.929-10C>G single nucleotide variant Brody myopathy [RCV001481834] Chr16:28888777 [GRCh38]
Chr16:28900098 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1006T>C (p.Leu336=) single nucleotide variant Brody myopathy [RCV001483808] Chr16:28888864 [GRCh38]
Chr16:28900185 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2457C>T (p.Arg819=) single nucleotide variant Brody myopathy [RCV000876316] Chr16:28902319 [GRCh38]
Chr16:28913640 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1620G>T (p.Pro540=) single nucleotide variant Brody myopathy [RCV001500184] Chr16:28898307 [GRCh38]
Chr16:28909628 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1411T>G (p.Cys471Gly) single nucleotide variant Brody myopathy [RCV002065759] Chr16:28894945 [GRCh38]
Chr16:28906266 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.448A>G (p.Ile150Val) single nucleotide variant Brody myopathy [RCV001207527] Chr16:28882574 [GRCh38]
Chr16:28893895 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1741T>C (p.Ser581Pro) single nucleotide variant Brody myopathy [RCV001239794] Chr16:28898428 [GRCh38]
Chr16:28909749 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1567G>A (p.Asp523Asn) single nucleotide variant Brody myopathy [RCV001243414] Chr16:28898254 [GRCh38]
Chr16:28909575 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.310G>A (p.Val104Met) single nucleotide variant Brody myopathy [RCV001044422] Chr16:28881005 [GRCh38]
Chr16:28892326 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1712C>T (p.Pro571Leu) single nucleotide variant Brody myopathy [RCV001220636] Chr16:28898399 [GRCh38]
Chr16:28909720 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1666C>T (p.Arg556Trp) single nucleotide variant Brody myopathy [RCV001224806]|not provided [RCV004778015] Chr16:28898353 [GRCh38]
Chr16:28909674 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1780G>C (p.Val594Leu) single nucleotide variant Brody myopathy [RCV001221501] Chr16:28900596 [GRCh38]
Chr16:28911917 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.10:g.(?_28878661)_(28904215_?)del deletion Brody myopathy [RCV001031826] Chr16:28889982..28915536 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2183A>G (p.Lys728Arg) single nucleotide variant Brody myopathy [RCV001046390] Chr16:28901945 [GRCh38]
Chr16:28913266 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2930T>C (p.Val977Ala) single nucleotide variant Brody myopathy [RCV001046391] Chr16:28903390 [GRCh38]
Chr16:28914711 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.10:g.28812342_29035950dup duplication not provided [RCV001542301] Chr16:28812342..29035950 [GRCh38]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1749G>A (p.Arg583=) single nucleotide variant Brody myopathy [RCV001455152] Chr16:28898436 [GRCh38]
Chr16:28909757 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2958C>T (p.Phe986=) single nucleotide variant Brody myopathy [RCV002065837] Chr16:28903418 [GRCh38]
Chr16:28914739 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2520C>T (p.Ile840=) single nucleotide variant ATP2A1-related disorder [RCV003957946]|Brody myopathy [RCV000890926] Chr16:28902382 [GRCh38]
Chr16:28913703 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.513C>A (p.Thr171=) single nucleotide variant Brody myopathy [RCV001409544] Chr16:28884624 [GRCh38]
Chr16:28895945 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1302T>C (p.Tyr434=) single nucleotide variant Brody myopathy [RCV000934856] Chr16:28894836 [GRCh38]
Chr16:28906157 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:28490480-29379768)x1 copy number loss not provided [RCV002472918] Chr16:28490480..29379768 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.928+267T>G single nucleotide variant not provided [RCV001593686] Chr16:28887989 [GRCh38]
Chr16:28899310 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1913G>A (p.Arg638Gln) single nucleotide variant Brody myopathy [RCV001859374]|Inborn genetic diseases [RCV002568988]|not provided [RCV001553292] Chr16:28900729 [GRCh38]
Chr16:28912050 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NC_000016.10:g.28878380dup duplication not provided [RCV001717892] Chr16:28878376..28878377 [GRCh38]
Chr16:28889697..28889698 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.2863-36A>G single nucleotide variant not provided [RCV001641081] Chr16:28903287 [GRCh38]
Chr16:28914608 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.1420-210A>G single nucleotide variant not provided [RCV001571601] Chr16:28897790 [GRCh38]
Chr16:28909111 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:28486929-29351826)x1 copy number loss not provided [RCV002472640] Chr16:28486929..29351826 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28763835-29051191)x1 copy number loss not provided [RCV002473929] Chr16:28763835..29051191 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2441T>C (p.Leu814Pro) single nucleotide variant Brody myopathy [RCV001066239] Chr16:28902303 [GRCh38]
Chr16:28913624 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3 copy number gain not provided [RCV001006786] Chr16:21576802..29351826 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28545586-29351826)x3 copy number gain not provided [RCV001006790] Chr16:28545586..29351826 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.*38-153del deletion not provided [RCV001655250] Chr16:28904019 [GRCh38]
Chr16:28915340 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.2101-236C>T single nucleotide variant not provided [RCV001589885] Chr16:28901627 [GRCh38]
Chr16:28912948 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1765-262del deletion not provided [RCV001678348] Chr16:28900309 [GRCh38]
Chr16:28911630 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.1765-140_1765-139insTTG insertion not provided [RCV001657138] Chr16:28900441..28900442 [GRCh38]
Chr16:28911762..28911763 [GRCh37]
Chr16:16p11.2		 benign
NC_000016.10:g.(?_28878662)_(28904215_?)del deletion Brody myopathy [RCV001033942] Chr16:28889983..28915536 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.1975G>A (p.Asp659Asn) single nucleotide variant Brody myopathy [RCV001211031] Chr16:28900791 [GRCh38]
Chr16:28912112 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2212G>A (p.Asp738Asn) single nucleotide variant Brody myopathy [RCV001071504] Chr16:28901974 [GRCh38]
Chr16:28913295 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28825605-29043450)x3 copy number gain See cases [RCV001194555] Chr16:28825605..29043450 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_004320.6(ATP2A1):c.2959G>C (p.Val987Leu) single nucleotide variant Brody myopathy [RCV001121436] Chr16:28903419 [GRCh38]
Chr16:28914740 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1113G>A (p.Lys371=) single nucleotide variant Brody myopathy [RCV001121352] Chr16:28894172 [GRCh38]
Chr16:28905493 [GRCh37]
Chr16:16p11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_004320.6(ATP2A1):c.325-254G>A single nucleotide variant not provided [RCV001671356] Chr16:28882197 [GRCh38]
Chr16:28893518 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.2015G>A (p.Arg672His) single nucleotide variant Brody myopathy [RCV001049680] Chr16:28900831 [GRCh38]
Chr16:28912152 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.10:g.(?_28887179)_(28888963_?)del deletion Brody myopathy [RCV001033174] Chr16:28898500..28900284 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.324+1G>C single nucleotide variant Brody myopathy [RCV001069848] Chr16:28881020 [GRCh38]
Chr16:28892341 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_004320.6(ATP2A1):c.902_903insSVAelement insertion Brody myopathy [RCV001089780] Chr16:28887696..28887697 [GRCh38]
Chr16:28899017..28899018 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2611-11C>G single nucleotide variant Brody myopathy [RCV002073024]|not provided [RCV001652516] Chr16:28902767 [GRCh38]
Chr16:28914088 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.1369A>G (p.Thr457Ala) single nucleotide variant Brody myopathy [RCV001067152] Chr16:28894903 [GRCh38]
Chr16:28906224 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2621T>C (p.Met874Thr) single nucleotide variant Brody myopathy [RCV001067453] Chr16:28902788 [GRCh38]
Chr16:28914109 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.545-178dup duplication not provided [RCV001651704] Chr16:28886992..28886993 [GRCh38]
Chr16:28898313..28898314 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.2540C>G (p.Ala847Gly) single nucleotide variant Brody myopathy [RCV001034778] Chr16:28902595 [GRCh38]
Chr16:28913916 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2101-221del deletion not provided [RCV001679627] Chr16:28901633 [GRCh38]
Chr16:28912954 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.41C>A (p.Ala14Asp) single nucleotide variant Brody myopathy [RCV001117783] Chr16:28878712 [GRCh38]
Chr16:28890033 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.55A>G (p.Ser19Gly) single nucleotide variant Brody myopathy [RCV001208726] Chr16:28878726 [GRCh38]
Chr16:28890047 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2101-15C>T single nucleotide variant Brody myopathy [RCV001119442] Chr16:28901848 [GRCh38]
Chr16:28913169 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1712C>A (p.Pro571Gln) single nucleotide variant Brody myopathy [RCV001237317] Chr16:28898399 [GRCh38]
Chr16:28909720 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.515C>T (p.Thr172Met) single nucleotide variant Brody myopathy [RCV001119340] Chr16:28884626 [GRCh38]
Chr16:28895947 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2456G>A (p.Arg819His) single nucleotide variant Brody myopathy [RCV001119443] Chr16:28902318 [GRCh38]
Chr16:28913639 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1552C>T (p.Pro518Ser) single nucleotide variant Brody myopathy [RCV001207850] Chr16:28898239 [GRCh38]
Chr16:28909560 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3 copy number gain not provided [RCV001249228] Chr16:21312200..29646379 [GRCh37]
Chr16:16p12.2-11.2		 not provided
NM_004320.6(ATP2A1):c.1601G>A (p.Arg534Gln) single nucleotide variant Brody myopathy [RCV001233428] Chr16:28898288 [GRCh38]
Chr16:28909609 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2932A>G (p.Ile978Val) single nucleotide variant Brody myopathy [RCV001214986]|not specified [RCV003398949] Chr16:28903392 [GRCh38]
Chr16:28914713 [GRCh37]
Chr16:16p11.2		 uncertain significance
Single allele deletion Proximal 16p11.2 microdeletion syndrome [RCV001031017] Chr16:28837450..29042118 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.490C>T (p.Arg164Ter) single nucleotide variant Brody myopathy [RCV001059580] Chr16:28884601 [GRCh38]
Chr16:28895922 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2429A>G (p.Asn810Ser) single nucleotide variant Brody myopathy [RCV001064238] Chr16:28902291 [GRCh38]
Chr16:28913612 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1843C>T (p.Arg615Cys) single nucleotide variant Brody myopathy [RCV001247407] Chr16:28900659 [GRCh38]
Chr16:28911980 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.938C>T (p.Ala313Val) single nucleotide variant Brody myopathy [RCV001036404] Chr16:28888796 [GRCh38]
Chr16:28900117 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2311G>A (p.Glu771Lys) single nucleotide variant ATP2A1-related disorder [RCV004746207]|Brody myopathy [RCV001041396] Chr16:28902073 [GRCh38]
Chr16:28913394 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.472A>G (p.Lys158Glu) single nucleotide variant Brody myopathy [RCV001119339]|Inborn genetic diseases [RCV002558180]|not provided [RCV001289248] Chr16:28884583 [GRCh38]
Chr16:28895904 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2630C>T (p.Thr877Ile) single nucleotide variant Brody myopathy [RCV001121435] Chr16:28902797 [GRCh38]
Chr16:28914118 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2695A>G (p.Met899Val) single nucleotide variant Brody myopathy [RCV001229434] Chr16:28902862 [GRCh38]
Chr16:28914183 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2653G>A (p.Gly885Ser) single nucleotide variant Brody myopathy [RCV001070776] Chr16:28902820 [GRCh38]
Chr16:28914141 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28819028-28976572)x3 copy number gain not provided [RCV001258620] Chr16:28819028..28976572 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28488319-30178406)x1 copy number loss not provided [RCV001258616] Chr16:28488319..30178406 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.-2C>T single nucleotide variant not provided [RCV001663467] Chr16:28878670 [GRCh38]
Chr16:28889991 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28689085-29051191) copy number loss Distal 16p11.2 microdeletion syndrome [RCV002280607] Chr16:28689085..29051191 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.280A>G (p.Ile94Val) single nucleotide variant Brody myopathy [RCV001348538] Chr16:28880975 [GRCh38]
Chr16:28892296 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p11.2(chr16:28336673-29358712)x1 copy number loss not provided [RCV001258615] Chr16:28336673..29358712 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28615644-29042118) copy number gain Familial atrioventricular septal defect [RCV001291965] Chr16:28615644..29042118 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28819028-28988225)x1 copy number loss not provided [RCV001258618] Chr16:28819028..28988225 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28384463-29343462)x3 copy number gain not provided [RCV001258621] Chr16:28384463..29343462 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.958G>T (p.Ala320Ser) single nucleotide variant Brody myopathy [RCV001326625] Chr16:28888816 [GRCh38]
Chr16:28900137 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2060T>C (p.Ile687Thr) single nucleotide variant Brody myopathy [RCV001317078] Chr16:28900876 [GRCh38]
Chr16:28912197 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1603G>A (p.Val535Met) single nucleotide variant Brody myopathy [RCV001315743] Chr16:28898290 [GRCh38]
Chr16:28909611 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2045C>T (p.Ser682Leu) single nucleotide variant Brody myopathy [RCV001304531]|not provided [RCV004697103] Chr16:28900861 [GRCh38]
Chr16:28912182 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2879G>A (p.Arg960Gln) single nucleotide variant Brody myopathy [RCV001372252]|Inborn genetic diseases [RCV004037526] Chr16:28903339 [GRCh38]
Chr16:28914660 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_004320.6(ATP2A1):c.1091G>C (p.Cys364Ser) single nucleotide variant Brody myopathy [RCV001369141] Chr16:28888949 [GRCh38]
Chr16:28900270 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2644C>T (p.His882Tyr) single nucleotide variant Brody myopathy [RCV002541264]|not provided [RCV001787574] Chr16:28902811 [GRCh38]
Chr16:28914132 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.198C>G (p.Leu66=) single nucleotide variant Brody myopathy [RCV001421346] Chr16:28879562 [GRCh38]
Chr16:28890883 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.369G>A (p.Glu123=) single nucleotide variant ATP2A1-related disorder [RCV003898375]|Brody myopathy [RCV001392608] Chr16:28882495 [GRCh38]
Chr16:28893816 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1A>G (p.Met1Val) single nucleotide variant Brody myopathy [RCV001348798] Chr16:28878672 [GRCh38]
Chr16:28889993 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1672_1673dup (p.Leu559fs) microsatellite Brody myopathy [RCV001333623] Chr16:28898356..28898357 [GRCh38]
Chr16:28909677..28909678 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.9:g.(?_28488827)_(28950294_?)del deletion Neuronal ceroid lipofuscinosis [RCV001387099] Chr16:28488827..28950294 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.1714A>C (p.Lys572Gln) single nucleotide variant Brody myopathy [RCV001315246] Chr16:28898401 [GRCh38]
Chr16:28909722 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1606C>T (p.Pro536Ser) single nucleotide variant Brody myopathy [RCV001360635] Chr16:28898293 [GRCh38]
Chr16:28909614 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2902C>T (p.Leu968Phe) single nucleotide variant Brody myopathy [RCV001304066]|not provided [RCV003482362] Chr16:28903362 [GRCh38]
Chr16:28914683 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.349G>A (p.Glu117Lys) single nucleotide variant Brody myopathy [RCV001362183] Chr16:28882475 [GRCh38]
Chr16:28893796 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1347G>A (p.Val449=) single nucleotide variant Brody myopathy [RCV001362782] Chr16:28894881 [GRCh38]
Chr16:28906202 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_004320.6(ATP2A1):c.1231G>C (p.Val411Leu) single nucleotide variant Brody myopathy [RCV001320188] Chr16:28894551 [GRCh38]
Chr16:28905872 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.667G>A (p.Val223Met) single nucleotide variant Brody myopathy [RCV001333624] Chr16:28887461 [GRCh38]
Chr16:28898782 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2485A>G (p.Ile829Val) single nucleotide variant Brody myopathy [RCV001326784] Chr16:28902347 [GRCh38]
Chr16:28913668 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1808C>T (p.Pro603Leu) single nucleotide variant Brody myopathy [RCV001320500] Chr16:28900624 [GRCh38]
Chr16:28911945 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2056A>C (p.Lys686Gln) single nucleotide variant Brody myopathy [RCV001361662] Chr16:28900872 [GRCh38]
Chr16:28912193 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.9:g.(?_28889973)_(28893930_?)dup duplication Brody myopathy [RCV001305884] Chr16:28889973..28893930 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1571G>A (p.Arg524His) single nucleotide variant Brody myopathy [RCV001325095]|not provided [RCV004692506] Chr16:28898258 [GRCh38]
Chr16:28909579 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2029G>T (p.Ala677Ser) single nucleotide variant Brody myopathy [RCV001364387] Chr16:28900845 [GRCh38]
Chr16:28912166 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2620A>G (p.Met874Val) single nucleotide variant Brody myopathy [RCV001301163] Chr16:28902787 [GRCh38]
Chr16:28914108 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1444G>A (p.Glu482Lys) single nucleotide variant Brody myopathy [RCV001321319] Chr16:28898024 [GRCh38]
Chr16:28909345 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1786G>A (p.Val596Ile) single nucleotide variant Brody myopathy [RCV001298972]|Inborn genetic diseases [RCV002541878] Chr16:28900602 [GRCh38]
Chr16:28911923 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1978G>A (p.Asp660Asn) single nucleotide variant Brody myopathy [RCV001371007] Chr16:28900794 [GRCh38]
Chr16:28912115 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2333C>T (p.Thr778Ile) single nucleotide variant Brody myopathy [RCV001299621] Chr16:28902195 [GRCh38]
Chr16:28913516 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28483631-29332591)x3 copy number gain not provided [RCV001270661] Chr16:28483631..29332591 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1640C>T (p.Ala547Val) single nucleotide variant Brody myopathy [RCV001318528] Chr16:28898327 [GRCh38]
Chr16:28909648 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.847G>A (p.Val283Ile) single nucleotide variant Brody myopathy [RCV001318533] Chr16:28887641 [GRCh38]
Chr16:28898962 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.334G>A (p.Ala112Thr) single nucleotide variant Brody myopathy [RCV001365340] Chr16:28882460 [GRCh38]
Chr16:28893781 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.648C>A (p.Ala216=) single nucleotide variant Brody myopathy [RCV001395154] Chr16:28887442 [GRCh38]
Chr16:28898763 [GRCh37]
Chr16:16p11.2		 likely benign
NC_000016.9:g.(?_28909311)_(28915526_?)dup duplication Brody myopathy [RCV001316937] Chr16:28909311..28915526 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.666C>T (p.Ile222=) single nucleotide variant Brody myopathy [RCV001494241] Chr16:28887460 [GRCh38]
Chr16:28898781 [GRCh37]
Chr16:16p11.2		 likely benign
Single allele deletion Proximal 16p11.2 microdeletion syndrome [RCV001391676] Chr16:28668059..29001338 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_004320.6(ATP2A1):c.2146A>G (p.Ile716Val) single nucleotide variant Brody myopathy [RCV001304297] Chr16:28901908 [GRCh38]
Chr16:28913229 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2584G>A (p.Gly862Arg) single nucleotide variant Brody myopathy [RCV001359595] Chr16:28902639 [GRCh38]
Chr16:28913960 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1698C>A (p.Thr566=) single nucleotide variant Brody myopathy [RCV001438757] Chr16:28898385 [GRCh38]
Chr16:28909706 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.846C>T (p.Pro282=) single nucleotide variant Brody myopathy [RCV001471480] Chr16:28887640 [GRCh38]
Chr16:28898961 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2700C>T (p.Ala900=) single nucleotide variant Brody myopathy [RCV001465822] Chr16:28902867 [GRCh38]
Chr16:28914188 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1311C>T (p.Val437=) single nucleotide variant Brody myopathy [RCV001463597] Chr16:28894845 [GRCh38]
Chr16:28906166 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.573G>A (p.Thr191=) single nucleotide variant Brody myopathy [RCV001463557]|not provided [RCV002276519] Chr16:28887217 [GRCh38]
Chr16:28898538 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2751C>T (p.Ser917=) single nucleotide variant Brody myopathy [RCV001472378] Chr16:28903036 [GRCh38]
Chr16:28914357 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.129T>C (p.Ala43=) single nucleotide variant ATP2A1-related disorder [RCV003921045]|Brody myopathy [RCV001498816] Chr16:28879109 [GRCh38]
Chr16:28890430 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2274G>A (p.Lys758=) single nucleotide variant Brody myopathy [RCV001471478] Chr16:28902036 [GRCh38]
Chr16:28913357 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2544C>A (p.Thr848=) single nucleotide variant Brody myopathy [RCV001427431] Chr16:28902599 [GRCh38]
Chr16:28913920 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1546-8T>C single nucleotide variant Brody myopathy [RCV001440712] Chr16:28898225 [GRCh38]
Chr16:28909546 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1386C>G (p.Leu462=) single nucleotide variant Brody myopathy [RCV001477883] Chr16:28894920 [GRCh38]
Chr16:28906241 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.631-6T>A single nucleotide variant Brody myopathy [RCV001401937] Chr16:28887419 [GRCh38]
Chr16:28898740 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.570C>T (p.His190=) single nucleotide variant Brody myopathy [RCV001430020] Chr16:28887214 [GRCh38]
Chr16:28898535 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2475G>A (p.Lys825=) single nucleotide variant Brody myopathy [RCV001448591] Chr16:28902337 [GRCh38]
Chr16:28913658 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.933T>C (p.Leu311=) single nucleotide variant Brody myopathy [RCV001412204] Chr16:28888791 [GRCh38]
Chr16:28900112 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.137-10C>T single nucleotide variant Brody myopathy [RCV001437292] Chr16:28879491 [GRCh38]
Chr16:28890812 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1539T>C (p.Phe513=) single nucleotide variant Brody myopathy [RCV001408421] Chr16:28898119 [GRCh38]
Chr16:28909440 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.929-5C>G single nucleotide variant Brody myopathy [RCV001435021] Chr16:28888782 [GRCh38]
Chr16:28900103 [GRCh37]
Chr16:16p11.2		 likely benign
NC_000016.9:g.(?_28888809)_(28916830_?)del deletion Brody myopathy [RCV001386956] Chr16:28888809..28916830 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.690C>T (p.Thr230=) single nucleotide variant Brody myopathy [RCV001411714] Chr16:28887484 [GRCh38]
Chr16:28898805 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.579C>T (p.Pro193=) single nucleotide variant Brody myopathy [RCV001445729] Chr16:28887223 [GRCh38]
Chr16:28898544 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.545-197C>A single nucleotide variant not provided [RCV001539994] Chr16:28886992 [GRCh38]
Chr16:28898313 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.545-178del deletion not provided [RCV001587940] Chr16:28886993 [GRCh38]
Chr16:28898314 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1764+152G>A single nucleotide variant not provided [RCV001587956] Chr16:28898603 [GRCh38]
Chr16:28909924 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1288-8C>T single nucleotide variant Brody myopathy [RCV001502629] Chr16:28894814 [GRCh38]
Chr16:28906135 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.66G>A (p.Thr22=) single nucleotide variant Brody myopathy [RCV001451643] Chr16:28878737 [GRCh38]
Chr16:28890058 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.672C>T (p.Ala224=) single nucleotide variant Brody myopathy [RCV001452174] Chr16:28887466 [GRCh38]
Chr16:28898787 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.*38-48T>C single nucleotide variant not provided [RCV001650410] Chr16:28904132 [GRCh38]
Chr16:28915453 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.*37+61G>C single nucleotide variant not provided [RCV001590128] Chr16:28903802 [GRCh38]
Chr16:28915123 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1713G>A (p.Pro571=) single nucleotide variant Brody myopathy [RCV001498356] Chr16:28898400 [GRCh38]
Chr16:28909721 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.324+8T>C single nucleotide variant Brody myopathy [RCV001498358] Chr16:28881027 [GRCh38]
Chr16:28892348 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1071C>T (p.Thr357=) single nucleotide variant Brody myopathy [RCV001401610] Chr16:28888929 [GRCh38]
Chr16:28900250 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2682C>T (p.Pro894=) single nucleotide variant Brody myopathy [RCV001481841] Chr16:28902849 [GRCh38]
Chr16:28914170 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.576G>A (p.Glu192=) single nucleotide variant Brody myopathy [RCV001505146] Chr16:28887220 [GRCh38]
Chr16:28898541 [GRCh37]
Chr16:16p11.2		 likely benign
NC_000016.9:g.(?_28900098)_(28900284_?)del deletion Brody myopathy [RCV001386957] Chr16:28900098..28900284 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2403G>A (p.Gly801=) single nucleotide variant Brody myopathy [RCV001400134] Chr16:28902265 [GRCh38]
Chr16:28913586 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2574C>T (p.Tyr858=) single nucleotide variant Brody myopathy [RCV001438564] Chr16:28902629 [GRCh38]
Chr16:28913950 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.463+10A>G single nucleotide variant ATP2A1-related disorder [RCV004746371]|Brody myopathy [RCV001407112] Chr16:28882599 [GRCh38]
Chr16:28893920 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.*51A>G single nucleotide variant Brody myopathy [RCV001511511] Chr16:28904193 [GRCh38]
Chr16:28915514 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.2649T>C (p.Phe883=) single nucleotide variant Brody myopathy [RCV001483722] Chr16:28902816 [GRCh38]
Chr16:28914137 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.591C>T (p.Pro197=) single nucleotide variant Brody myopathy [RCV001499668] Chr16:28887235 [GRCh38]
Chr16:28898556 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1614G>C (p.Thr538=) single nucleotide variant Brody myopathy [RCV001435621] Chr16:28898301 [GRCh38]
Chr16:28909622 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2764C>T (p.Leu922=) single nucleotide variant Brody myopathy [RCV001497417] Chr16:28903049 [GRCh38]
Chr16:28914370 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.445G>A (p.Asp149Asn) single nucleotide variant not provided [RCV001726989] Chr16:28882571 [GRCh38]
Chr16:28893892 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28485883-29589674)x1 copy number loss not provided [RCV001834285] Chr16:28485883..29589674 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2518A>G (p.Ile840Val) single nucleotide variant Brody myopathy [RCV002032760]|not provided [RCV001756378] Chr16:28902380 [GRCh38]
Chr16:28913701 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2230G>A (p.Val744Ile) single nucleotide variant Brody myopathy [RCV002032755]|not provided [RCV001754331] Chr16:28901992 [GRCh38]
Chr16:28913313 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.766T>G (p.Phe256Val) single nucleotide variant Brody myopathy [RCV003146232]|not provided [RCV001770960] Chr16:28887560 [GRCh38]
Chr16:28898881 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1216C>T (p.Gln406Ter) single nucleotide variant Brody myopathy [RCV001785135] Chr16:28894536 [GRCh38]
Chr16:28905857 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_004320.6(ATP2A1):c.592del (p.Arg198fs) deletion Brody myopathy [RCV001785142] Chr16:28887232 [GRCh38]
Chr16:28898553 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.997G>A (p.Val333Ile) single nucleotide variant not provided [RCV001771241] Chr16:28888855 [GRCh38]
Chr16:28900176 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1156G>A (p.Gly386Ser) single nucleotide variant not provided [RCV001773229] Chr16:28894215 [GRCh38]
Chr16:28905536 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1586G>A (p.Arg529Gln) single nucleotide variant not provided [RCV001765349] Chr16:28898273 [GRCh38]
Chr16:28909594 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1 copy number loss not provided [RCV001795549] Chr16:21594997..29625302 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28784627-29230353)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801204] Chr16:28784627..29230353 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2574C>A (p.Tyr858Ter) single nucleotide variant Brody myopathy [RCV001780662] Chr16:28902629 [GRCh38]
Chr16:28913950 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_004320.6(ATP2A1):c.2574C>G (p.Tyr858Ter) single nucleotide variant Brody myopathy [RCV001785173] Chr16:28902629 [GRCh38]
Chr16:28913950 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2515G>A (p.Ala839Thr) single nucleotide variant not provided [RCV001754246] Chr16:28902377 [GRCh38]
Chr16:28913698 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.706C>T (p.Arg236Ter) single nucleotide variant Brody myopathy [RCV001785150] Chr16:28887500 [GRCh38]
Chr16:28898821 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2249del (p.Gly750fs) deletion Brody myopathy [RCV001785156] Chr16:28902009 [GRCh38]
Chr16:28913330 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.150G>A (p.Trp50Ter) single nucleotide variant Brody myopathy [RCV001785180] Chr16:28879514 [GRCh38]
Chr16:28890835 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28353878-29478115)x3 copy number gain Distal 16p11.2 microdeletion syndrome [RCV001801190] Chr16:28353878..29478115 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_004320.6(ATP2A1):c.929-23_929-12del deletion Brody myopathy [RCV002073999]|not provided [RCV001762849] Chr16:28888758..28888769 [GRCh38]
Chr16:28900079..28900090 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.2682del (p.Glu895fs) deletion Brody myopathy [RCV001780664] Chr16:28902845 [GRCh38]
Chr16:28914166 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_004320.6(ATP2A1):c.324+1G>A single nucleotide variant Brody myopathy [RCV001780663] Chr16:28881020 [GRCh38]
Chr16:28892341 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_004320.6(ATP2A1):c.704T>A (p.Ile235Asn) single nucleotide variant Brody myopathy [RCV001822098] Chr16:28887498 [GRCh38]
Chr16:28898819 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.178del (p.Leu60fs) deletion Brody myopathy [RCV001822096] Chr16:28879541 [GRCh38]
Chr16:28890862 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.200T>G (p.Leu67Arg) single nucleotide variant Brody myopathy [RCV001822097] Chr16:28879564 [GRCh38]
Chr16:28890885 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.1513C>T (p.Arg505Trp) single nucleotide variant Brody myopathy [RCV001970575] Chr16:28898093 [GRCh38]
Chr16:28909414 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1977C>T (p.Asp659=) single nucleotide variant Brody myopathy [RCV002042429] Chr16:28900793 [GRCh38]
Chr16:28912114 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2762C>T (p.Ser921Phe) single nucleotide variant Brody myopathy [RCV001895968] Chr16:28903047 [GRCh38]
Chr16:28914368 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.118G>A (p.Glu40Lys) single nucleotide variant Brody myopathy [RCV002025720] Chr16:28878789 [GRCh38]
Chr16:28890110 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.440C>G (p.Pro147Arg) single nucleotide variant Brody myopathy [RCV001915189] Chr16:28882566 [GRCh38]
Chr16:28893887 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.88A>C (p.Lys30Gln) single nucleotide variant Brody myopathy [RCV001914714] Chr16:28878759 [GRCh38]
Chr16:28890080 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.883T>C (p.Tyr295His) single nucleotide variant Brody myopathy [RCV001988339] Chr16:28887677 [GRCh38]
Chr16:28898998 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.888dup (p.Lys297Ter) duplication Brody myopathy [RCV002007448] Chr16:28887679..28887680 [GRCh38]
Chr16:28899000..28899001 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2083G>A (p.Asp695Asn) single nucleotide variant Brody myopathy [RCV001964331]|Inborn genetic diseases [RCV003289322] Chr16:28900899 [GRCh38]
Chr16:28912220 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.664A>G (p.Ile222Val) single nucleotide variant Brody myopathy [RCV002009101] Chr16:28887458 [GRCh38]
Chr16:28898779 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28837905-29088624)x1 copy number loss not provided [RCV001829094] Chr16:28837905..29088624 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.546C>T (p.Gly182=) single nucleotide variant Brody myopathy [RCV002044324] Chr16:28887190 [GRCh38]
Chr16:28898511 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_004320.6(ATP2A1):c.2857_2858del (p.Leu953fs) deletion Brody myopathy [RCV002008303] Chr16:28903142..28903143 [GRCh38]
Chr16:28914463..28914464 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28485883-29416001)x1 copy number loss not provided [RCV001829191] Chr16:28485883..29416001 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.1545G>T (p.Lys515Asn) single nucleotide variant Brody myopathy [RCV002006238] Chr16:28898125 [GRCh38]
Chr16:28909446 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1419+10C>T single nucleotide variant Brody myopathy [RCV001912720] Chr16:28894963 [GRCh38]
Chr16:28906284 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2040G>T (p.Glu680Asp) single nucleotide variant Brody myopathy [RCV001966200] Chr16:28900856 [GRCh38]
Chr16:28912177 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2305G>A (p.Val769Met) single nucleotide variant Brody myopathy [RCV002004039] Chr16:28902067 [GRCh38]
Chr16:28913388 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2777C>G (p.Pro926Arg) single nucleotide variant Brody myopathy [RCV001965279]|Inborn genetic diseases [RCV002562188]|not provided [RCV003236910] Chr16:28903062 [GRCh38]
Chr16:28914383 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2293A>G (p.Ile765Val) single nucleotide variant Brody myopathy [RCV002039836] Chr16:28902055 [GRCh38]
Chr16:28913376 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28384465-29351826)x3 copy number gain not provided [RCV001827743] Chr16:28384465..29351826 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.689C>T (p.Thr230Ile) single nucleotide variant Brody myopathy [RCV001983947] Chr16:28887483 [GRCh38]
Chr16:28898804 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.118+1G>A single nucleotide variant Brody myopathy [RCV002006136] Chr16:28878790 [GRCh38]
Chr16:28890111 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_004320.6(ATP2A1):c.302A>G (p.Asn101Ser) single nucleotide variant Brody myopathy [RCV001984260] Chr16:28880997 [GRCh38]
Chr16:28892318 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.553G>A (p.Val185Ile) single nucleotide variant Brody myopathy [RCV001965779] Chr16:28887197 [GRCh38]
Chr16:28898518 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.261C>T (p.Ala87=) single nucleotide variant Brody myopathy [RCV001946968] Chr16:28880956 [GRCh38]
Chr16:28892277 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1966C>T (p.Arg656Ter) single nucleotide variant Brody myopathy [RCV001872466] Chr16:28900782 [GRCh38]
Chr16:28912103 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2056_2057del (p.Lys686fs) deletion Brody myopathy [RCV001928587] Chr16:28900872..28900873 [GRCh38]
Chr16:28912193..28912194 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2322-2A>G single nucleotide variant ATP2A1-related disorder [RCV003408056]|Brody myopathy [RCV001986741] Chr16:28902182 [GRCh38]
Chr16:28913503 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:28819029-29043450)x3 copy number gain not provided [RCV001829091] Chr16:28819029..29043450 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1253C>T (p.Ala418Val) single nucleotide variant Brody myopathy [RCV001946341] Chr16:28894573 [GRCh38]
Chr16:28905894 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.139A>G (p.Lys47Glu) single nucleotide variant Brody myopathy [RCV001948132] Chr16:28879503 [GRCh38]
Chr16:28890824 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1952G>A (p.Arg651His) single nucleotide variant Brody myopathy [RCV001943938] Chr16:28900768 [GRCh38]
Chr16:28912089 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.928+1dup duplication Brody myopathy [RCV002018049] Chr16:28887721..28887722 [GRCh38]
Chr16:28899042..28899043 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_004320.6(ATP2A1):c.98T>A (p.Leu33Gln) single nucleotide variant Brody myopathy [RCV001944066] Chr16:28878769 [GRCh38]
Chr16:28890090 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1333C>A (p.Leu445Ile) single nucleotide variant Brody myopathy [RCV001936578] Chr16:28894867 [GRCh38]
Chr16:28906188 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.474A>T (p.Lys158Asn) single nucleotide variant Brody myopathy [RCV002000819] Chr16:28884585 [GRCh38]
Chr16:28895906 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2153T>C (p.Ile718Thr) single nucleotide variant Brody myopathy [RCV002027153] Chr16:28901915 [GRCh38]
Chr16:28913236 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2683G>A (p.Glu895Lys) single nucleotide variant Brody myopathy [RCV001957736] Chr16:28902850 [GRCh38]
Chr16:28914171 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2367G>A (p.Pro789=) single nucleotide variant Brody myopathy [RCV002038154] Chr16:28902229 [GRCh38]
Chr16:28913550 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_004320.6(ATP2A1):c.2262C>G (p.Tyr754Ter) single nucleotide variant Brody myopathy [RCV001923360] Chr16:28902024 [GRCh38]
Chr16:28913345 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.361G>A (p.Glu121Lys) single nucleotide variant Brody myopathy [RCV001915951] Chr16:28882487 [GRCh38]
Chr16:28893808 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2770C>T (p.Arg924Trp) single nucleotide variant Brody myopathy [RCV002020181] Chr16:28903055 [GRCh38]
Chr16:28914376 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.840C>A (p.Asn280Lys) single nucleotide variant Brody myopathy [RCV001921678]|not provided [RCV002281201] Chr16:28887634 [GRCh38]
Chr16:28898955 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1767G>A (p.Thr589=) single nucleotide variant Brody myopathy [RCV001973897] Chr16:28900583 [GRCh38]
Chr16:28911904 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.678_679inv (p.Gly227Ser) inversion Brody myopathy [RCV001934771] Chr16:28887472..28887473 [GRCh38]
Chr16:28898793..28898794 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1916T>C (p.Ile639Thr) single nucleotide variant Brody myopathy [RCV001989653]|not provided [RCV003481242] Chr16:28900732 [GRCh38]
Chr16:28912053 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.92G>A (p.Arg31Gln) single nucleotide variant Brody myopathy [RCV001933619] Chr16:28878763 [GRCh38]
Chr16:28890084 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.220-14C>T single nucleotide variant Brody myopathy [RCV001956390] Chr16:28880901 [GRCh38]
Chr16:28892222 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1961C>T (p.Thr654Met) single nucleotide variant Brody myopathy [RCV001876363] Chr16:28900777 [GRCh38]
Chr16:28912098 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.9:g.(?_28835713)_(28917080_?)dup duplication not provided [RCV001900433] Chr16:28835713..28917080 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1678C>T (p.Arg560Cys) single nucleotide variant Brody myopathy [RCV002029751] Chr16:28898365 [GRCh38]
Chr16:28909686 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2980G>A (p.Gly994Arg) single nucleotide variant Brody myopathy [RCV002045938] Chr16:28903440 [GRCh38]
Chr16:28914761 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.448A>T (p.Ile150Phe) single nucleotide variant Brody myopathy [RCV001876784] Chr16:28882574 [GRCh38]
Chr16:28893895 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1510T>G (p.Ser504Ala) single nucleotide variant Brody myopathy [RCV001921420]|not provided [RCV003481193] Chr16:28898090 [GRCh38]
Chr16:28909411 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1844G>A (p.Arg615His) single nucleotide variant Brody myopathy [RCV001902768] Chr16:28900660 [GRCh38]
Chr16:28911981 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.451G>A (p.Val151Met) single nucleotide variant Brody myopathy [RCV001935557]|Inborn genetic diseases [RCV004681320] Chr16:28882577 [GRCh38]
Chr16:28893898 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.391C>T (p.Arg131Trp) single nucleotide variant Brody myopathy [RCV001918626] Chr16:28882517 [GRCh38]
Chr16:28893838 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1478C>A (p.Ser493Tyr) single nucleotide variant Brody myopathy [RCV002012554] Chr16:28898058 [GRCh38]
Chr16:28909379 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2863-8del deletion Brody myopathy [RCV002011480] Chr16:28903315 [GRCh38]
Chr16:28914636 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1814AGG[1] (p.Glu606del) microsatellite Brody myopathy [RCV001980089] Chr16:28900630..28900632 [GRCh38]
Chr16:28911951..28911953 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.356T>C (p.Leu119Pro) single nucleotide variant Brody myopathy [RCV001997817] Chr16:28882482 [GRCh38]
Chr16:28893803 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2610+25_2610+53del deletion Brody myopathy [RCV001934204] Chr16:28902683..28902711 [GRCh38]
Chr16:28914004..28914032 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_004320.6(ATP2A1):c.1843C>G (p.Arg615Gly) single nucleotide variant Brody myopathy [RCV002046126] Chr16:28900659 [GRCh38]
Chr16:28911980 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2615_2618del (p.His872fs) deletion Brody myopathy [RCV001993358] Chr16:28902782..28902785 [GRCh38]
Chr16:28914103..28914106 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2424C>T (p.Gly808=) single nucleotide variant Brody myopathy [RCV001997514] Chr16:28902286 [GRCh38]
Chr16:28913607 [GRCh37]
Chr16:16p11.2		 likely benign
NC_000016.9:g.(?_28905466)_(28915536_?)dup duplication Brody myopathy [RCV002030437] Chr16:28905466..28915536 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1600C>T (p.Arg534Trp) single nucleotide variant Brody myopathy [RCV001955359] Chr16:28898287 [GRCh38]
Chr16:28909608 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2524G>A (p.Gly842Ser) single nucleotide variant Brody myopathy [RCV001880936] Chr16:28902386 [GRCh38]
Chr16:28913707 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.9:g.(?_28854296)_(29001333_?)del deletion Brody myopathy [RCV001972573] Chr16:28854296..29001333 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2398G>C (p.Asp800His) single nucleotide variant Brody myopathy [RCV001998444] Chr16:28902260 [GRCh38]
Chr16:28913581 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.841G>A (p.Asp281Asn) single nucleotide variant Brody myopathy [RCV001999015] Chr16:28887635 [GRCh38]
Chr16:28898956 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1039G>A (p.Val347Ile) single nucleotide variant Brody myopathy [RCV001885819] Chr16:28888897 [GRCh38]
Chr16:28900218 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2971T>C (p.Tyr991His) single nucleotide variant Brody myopathy [RCV001907352] Chr16:28903431 [GRCh38]
Chr16:28914752 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.9:g.(?_28889993)_(28915526_?)dup duplication Brody myopathy [RCV001925596] Chr16:28889993..28915526 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.201G>A (p.Leu67=) single nucleotide variant Brody myopathy [RCV002036652] Chr16:28879565 [GRCh38]
Chr16:28890886 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.857G>A (p.Gly286Asp) single nucleotide variant Brody myopathy [RCV001880983] Chr16:28887651 [GRCh38]
Chr16:28898972 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.757C>A (p.Leu253Met) single nucleotide variant Brody myopathy [RCV001866345] Chr16:28887551 [GRCh38]
Chr16:28898872 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.898G>A (p.Val300Met) single nucleotide variant Brody myopathy [RCV001974133] Chr16:28887692 [GRCh38]
Chr16:28899013 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2290C>T (p.Leu764Phe) single nucleotide variant Brody myopathy [RCV001898656] Chr16:28902052 [GRCh38]
Chr16:28913373 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1531A>C (p.Lys511Gln) single nucleotide variant Brody myopathy [RCV001974347] Chr16:28898111 [GRCh38]
Chr16:28909432 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.527A>T (p.Asp176Val) single nucleotide variant Brody myopathy [RCV002014595] Chr16:28884638 [GRCh38]
Chr16:28895959 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.116A>G (p.Asn39Ser) single nucleotide variant Brody myopathy [RCV001870078] Chr16:28878787 [GRCh38]
Chr16:28890108 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1899T>C (p.Ile633=) single nucleotide variant Brody myopathy [RCV002088851] Chr16:28900715 [GRCh38]
Chr16:28912036 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2322-14C>T single nucleotide variant Brody myopathy [RCV002148380] Chr16:28902170 [GRCh38]
Chr16:28913491 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1707C>G (p.Thr569=) single nucleotide variant Brody myopathy [RCV002129312] Chr16:28898394 [GRCh38]
Chr16:28909715 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2322-16C>T single nucleotide variant Brody myopathy [RCV002105957] Chr16:28902168 [GRCh38]
Chr16:28913489 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2868C>T (p.Ile956=) single nucleotide variant Brody myopathy [RCV002108995] Chr16:28903328 [GRCh38]
Chr16:28914649 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.929-14C>T single nucleotide variant Brody myopathy [RCV002076228] Chr16:28888773 [GRCh38]
Chr16:28900094 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1237C>T (p.Leu413=) single nucleotide variant Brody myopathy [RCV002126625] Chr16:28894557 [GRCh38]
Chr16:28905878 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.207A>C (p.Ala69=) single nucleotide variant Brody myopathy [RCV002126626] Chr16:28879571 [GRCh38]
Chr16:28890892 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1095+14T>C single nucleotide variant Brody myopathy [RCV002073733] Chr16:28888967 [GRCh38]
Chr16:28900288 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.315G>C (p.Gly105=) single nucleotide variant Brody myopathy [RCV002165481] Chr16:28881010 [GRCh38]
Chr16:28892331 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2322-5dup duplication Brody myopathy [RCV002206829] Chr16:28902176..28902177 [GRCh38]
Chr16:28913497..28913498 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2863-12C>T single nucleotide variant Brody myopathy [RCV002072883] Chr16:28903311 [GRCh38]
Chr16:28914632 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2744+10C>T single nucleotide variant Brody myopathy [RCV002145038] Chr16:28902921 [GRCh38]
Chr16:28914242 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2826C>G (p.Ser942=) single nucleotide variant Brody myopathy [RCV002092065] Chr16:28903111 [GRCh38]
Chr16:28914432 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2607G>A (p.Gln869=) single nucleotide variant Brody myopathy [RCV002129047] Chr16:28902662 [GRCh38]
Chr16:28913983 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.630+11C>T single nucleotide variant Brody myopathy [RCV002106423] Chr16:28887285 [GRCh38]
Chr16:28898606 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2863-9del deletion Brody myopathy [RCV002215409] Chr16:28903311 [GRCh38]
Chr16:28914632 [GRCh37]
Chr16:16p11.2		 benign
NM_004320.6(ATP2A1):c.324+12C>T single nucleotide variant Brody myopathy [RCV002150319] Chr16:28881031 [GRCh38]
Chr16:28892352 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1419+11G>A single nucleotide variant Brody myopathy [RCV002213611] Chr16:28894964 [GRCh38]
Chr16:28906285 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2525-5_2525-3del microsatellite Brody myopathy [RCV002197277] Chr16:28902571..28902573 [GRCh38]
Chr16:28913892..28913894 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.*38-14_*38-13del microsatellite Brody myopathy [RCV002133052] Chr16:28904163..28904164 [GRCh38]
Chr16:28915484..28915485 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1184+16dup duplication Brody myopathy [RCV002104876] Chr16:28894258..28894259 [GRCh38]
Chr16:28905579..28905580 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1287+18T>C single nucleotide variant Brody myopathy [RCV002094739] Chr16:28894625 [GRCh38]
Chr16:28905946 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2321+19G>A single nucleotide variant Brody myopathy [RCV002152283] Chr16:28902102 [GRCh38]
Chr16:28913423 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2748G>A (p.Leu916=) single nucleotide variant Brody myopathy [RCV002151012] Chr16:28903033 [GRCh38]
Chr16:28914354 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1545+11G>A single nucleotide variant Brody myopathy [RCV002095386] Chr16:28898136 [GRCh38]
Chr16:28909457 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.963G>C (p.Leu321=) single nucleotide variant Brody myopathy [RCV002106581] Chr16:28888821 [GRCh38]
Chr16:28900142 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2321+18C>T single nucleotide variant Brody myopathy [RCV002071080] Chr16:28902101 [GRCh38]
Chr16:28913422 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.137-9C>T single nucleotide variant Brody myopathy [RCV002127852] Chr16:28879492 [GRCh38]
Chr16:28890813 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2340C>T (p.Ala780=) single nucleotide variant Brody myopathy [RCV002092802] Chr16:28902202 [GRCh38]
Chr16:28913523 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2980+12C>T single nucleotide variant Brody myopathy [RCV002094841] Chr16:28903452 [GRCh38]
Chr16:28914773 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2744+9C>G single nucleotide variant Brody myopathy [RCV002096750] Chr16:28902920 [GRCh38]
Chr16:28914241 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2610+20G>A single nucleotide variant Brody myopathy [RCV002150683] Chr16:28902685 [GRCh38]
Chr16:28914006 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2835C>T (p.Phe945=) single nucleotide variant Brody myopathy [RCV002194020] Chr16:28903120 [GRCh38]
Chr16:28914441 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1284C>T (p.Asn428=) single nucleotide variant Brody myopathy [RCV002108956] Chr16:28894604 [GRCh38]
Chr16:28905925 [GRCh37]
Chr16:16p11.2		 likely benign
Single allele deletion Distal 16p11.2 microdeletion syndrome [RCV002227715] Chr16:28814284..29032129 [GRCh38]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.1288-15C>T single nucleotide variant Brody myopathy [RCV002182056] Chr16:28894807 [GRCh38]
Chr16:28906128 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2100+12C>A single nucleotide variant Brody myopathy [RCV002138591] Chr16:28900928 [GRCh38]
Chr16:28912249 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.929-13_929-6del microsatellite Brody myopathy [RCV002176982] Chr16:28888767..28888774 [GRCh38]
Chr16:28900088..28900095 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1641G>A (p.Ala547=) single nucleotide variant Brody myopathy [RCV002218410] Chr16:28898328 [GRCh38]
Chr16:28909649 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2640C>T (p.Asn880=) single nucleotide variant Brody myopathy [RCV002154024] Chr16:28902807 [GRCh38]
Chr16:28914128 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1191G>A (p.Lys397=) single nucleotide variant Brody myopathy [RCV002135506] Chr16:28894511 [GRCh38]
Chr16:28905832 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2853C>T (p.Asp951=) single nucleotide variant Brody myopathy [RCV002182961] Chr16:28903138 [GRCh38]
Chr16:28914459 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.198C>T (p.Leu66=) single nucleotide variant Brody myopathy [RCV002216823] Chr16:28879562 [GRCh38]
Chr16:28890883 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.137-11T>C single nucleotide variant Brody myopathy [RCV002102429] Chr16:28879490 [GRCh38]
Chr16:28890811 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.463+15C>T single nucleotide variant Brody myopathy [RCV002100749] Chr16:28882604 [GRCh38]
Chr16:28893925 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.588C>T (p.Asp196=) single nucleotide variant Brody myopathy [RCV002219394] Chr16:28887232 [GRCh38]
Chr16:28898553 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.417G>A (p.Arg139=) single nucleotide variant Brody myopathy [RCV002176265] Chr16:28882543 [GRCh38]
Chr16:28893864 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2101-9C>T single nucleotide variant Brody myopathy [RCV002217685] Chr16:28901854 [GRCh38]
Chr16:28913175 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1263T>C (p.Asn421=) single nucleotide variant Brody myopathy [RCV002184295] Chr16:28894583 [GRCh38]
Chr16:28905904 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1545+7A>G single nucleotide variant Brody myopathy [RCV002160866] Chr16:28898132 [GRCh38]
Chr16:28909453 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1410C>G (p.Ala470=) single nucleotide variant Brody myopathy [RCV002083394] Chr16:28894944 [GRCh38]
Chr16:28906265 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2863-19C>T single nucleotide variant Brody myopathy [RCV002102260] Chr16:28903304 [GRCh38]
Chr16:28914625 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2980+13CT[2] microsatellite Brody myopathy [RCV002218884] Chr16:28903453..28903454 [GRCh38]
Chr16:28914774..28914775 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2611-16C>T single nucleotide variant Brody myopathy [RCV002118896] Chr16:28902762 [GRCh38]
Chr16:28914083 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1287+12T>G single nucleotide variant Brody myopathy [RCV002119875] Chr16:28894619 [GRCh38]
Chr16:28905940 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2322-19G>A single nucleotide variant Brody myopathy [RCV002180742] Chr16:28902165 [GRCh38]
Chr16:28913486 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1764+7A>C single nucleotide variant Brody myopathy [RCV002197926] Chr16:28898458 [GRCh38]
Chr16:28909779 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.545-20C>A single nucleotide variant Brody myopathy [RCV002177808] Chr16:28887169 [GRCh38]
Chr16:28898490 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1096-11C>T single nucleotide variant Brody myopathy [RCV002159917] Chr16:28894144 [GRCh38]
Chr16:28905465 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2525-16C>T single nucleotide variant Brody myopathy [RCV002160319] Chr16:28902564 [GRCh38]
Chr16:28913885 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2028C>T (p.Phe676=) single nucleotide variant Brody myopathy [RCV002099371] Chr16:28900844 [GRCh38]
Chr16:28912165 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.660G>A (p.Leu220=) single nucleotide variant Brody myopathy [RCV002204753] Chr16:28887454 [GRCh38]
Chr16:28898775 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.137-19C>T single nucleotide variant Brody myopathy [RCV003110390] Chr16:28879482 [GRCh38]
Chr16:28890803 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.242G>A (p.Gly81Asp) single nucleotide variant Brody myopathy [RCV003112695] Chr16:28880937 [GRCh38]
Chr16:28892258 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2611-15G>A single nucleotide variant Brody myopathy [RCV003116181] Chr16:28902763 [GRCh38]
Chr16:28914084 [GRCh37]
Chr16:16p11.2		 likely benign
NC_000016.9:g.(?_27441393)_(29001333_?)del deletion Neuronal ceroid lipofuscinosis [RCV003122400] Chr16:27441393..29001333 [GRCh37]
Chr16:16p12.1-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28483659-29341550)x1 copy number loss not provided [RCV002291542] Chr16:28483659..29341550 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2000G>C (p.Arg667Pro) single nucleotide variant Brody myopathy [RCV002288331] Chr16:28900816 [GRCh38]
Chr16:28912137 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.564C>G (p.Ile188Met) single nucleotide variant Brody myopathy [RCV002297315] Chr16:28887208 [GRCh38]
Chr16:28898529 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1859G>A (p.Arg620Gln) single nucleotide variant Inborn genetic diseases [RCV003304528] Chr16:28900675 [GRCh38]
Chr16:28911996 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28384464-29432245)x3 copy number gain not provided [RCV002474709] Chr16:28384464..29432245 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28466731-30321320)x1 copy number loss not provided [RCV002472634] Chr16:28466731..30321320 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3 copy number gain not provided [RCV002474541] Chr16:21576803..30177240 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_004320.6(ATP2A1):c.2627G>A (p.Cys876Tyr) single nucleotide variant Brody myopathy [RCV002304566] Chr16:28902794 [GRCh38]
Chr16:28914115 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.808G>T (p.Ala270Ser) single nucleotide variant Brody myopathy [RCV002301144] Chr16:28887602 [GRCh38]
Chr16:28898923 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1168G>A (p.Ala390Thr) single nucleotide variant Brody myopathy [RCV002994303]|Inborn genetic diseases [RCV002979722] Chr16:28894227 [GRCh38]
Chr16:28905548 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.827T>C (p.Ile276Thr) single nucleotide variant Brody myopathy [RCV002615548] Chr16:28887621 [GRCh38]
Chr16:28898942 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2032C>T (p.Arg678Cys) single nucleotide variant Brody myopathy [RCV002571552]|not provided [RCV002508373] Chr16:28900848 [GRCh38]
Chr16:28912169 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.655G>A (p.Ala219Thr) single nucleotide variant Brody myopathy [RCV003033117] Chr16:28887449 [GRCh38]
Chr16:28898770 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2238T>C (p.Ala746=) single nucleotide variant Brody myopathy [RCV002613975] Chr16:28902000 [GRCh38]
Chr16:28913321 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.496C>T (p.Leu166Phe) single nucleotide variant Brody myopathy [RCV002816062] Chr16:28884607 [GRCh38]
Chr16:28895928 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.631-9C>G single nucleotide variant Brody myopathy [RCV002794991] Chr16:28887416 [GRCh38]
Chr16:28898737 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1637T>C (p.Met546Thr) single nucleotide variant Brody myopathy [RCV002904257] Chr16:28898324 [GRCh38]
Chr16:28909645 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.538C>T (p.Leu180=) single nucleotide variant Brody myopathy [RCV002690326] Chr16:28884649 [GRCh38]
Chr16:28895970 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.329G>T (p.Arg110Leu) single nucleotide variant Brody myopathy [RCV003073575] Chr16:28882455 [GRCh38]
Chr16:28893776 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1849G>A (p.Ala617Thr) single nucleotide variant Brody myopathy [RCV003076854] Chr16:28900665 [GRCh38]
Chr16:28911986 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.137-14G>C single nucleotide variant Brody myopathy [RCV002858635] Chr16:28879487 [GRCh38]
Chr16:28890808 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1765A>G (p.Thr589Ala) single nucleotide variant Brody myopathy [RCV003074577] Chr16:28900581 [GRCh38]
Chr16:28911902 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2261ACA[2] (p.Asn756del) microsatellite not provided [RCV002511332] Chr16:28902023..28902025 [GRCh38]
Chr16:28913344..28913346 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2862+14C>G single nucleotide variant Brody myopathy [RCV002816129] Chr16:28903161 [GRCh38]
Chr16:28914482 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2726T>C (p.Met909Thr) single nucleotide variant Brody myopathy [RCV003074009] Chr16:28902893 [GRCh38]
Chr16:28914214 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.348C>T (p.Ile116=) single nucleotide variant Brody myopathy [RCV003074275] Chr16:28882474 [GRCh38]
Chr16:28893795 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.343G>A (p.Ala115Thr) single nucleotide variant Inborn genetic diseases [RCV002728721] Chr16:28882469 [GRCh38]
Chr16:28893790 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1803C>T (p.Asp601=) single nucleotide variant Brody myopathy [RCV002907991] Chr16:28900619 [GRCh38]
Chr16:28911940 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:28371468-29342589)x3 copy number gain not provided [RCV002475767] Chr16:28371468..29342589 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1790T>C (p.Val597Ala) single nucleotide variant Brody myopathy [RCV003103146]|not provided [RCV002462715] Chr16:28900606 [GRCh38]
Chr16:28911927 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.253A>G (p.Ile85Val) single nucleotide variant Brody myopathy [RCV002819206] Chr16:28880948 [GRCh38]
Chr16:28892269 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1688C>T (p.Ala563Val) single nucleotide variant Brody myopathy [RCV002800203] Chr16:28898375 [GRCh38]
Chr16:28909696 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.559G>A (p.Val187Ile) single nucleotide variant Inborn genetic diseases [RCV002888419] Chr16:28887203 [GRCh38]
Chr16:28898524 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2164T>C (p.Ser722Pro) single nucleotide variant Brody myopathy [RCV002590668] Chr16:28901926 [GRCh38]
Chr16:28913247 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2625G>A (p.Gln875=) single nucleotide variant Brody myopathy [RCV002740395] Chr16:28902792 [GRCh38]
Chr16:28914113 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1107T>C (p.Ile369=) single nucleotide variant Brody myopathy [RCV003055674] Chr16:28894166 [GRCh38]
Chr16:28905487 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.610A>T (p.Lys204Ter) single nucleotide variant Brody myopathy [RCV002736631] Chr16:28887254 [GRCh38]
Chr16:28898575 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.4G>A (p.Glu2Lys) single nucleotide variant Brody myopathy [RCV002622923] Chr16:28878675 [GRCh38]
Chr16:28889996 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.836T>C (p.Phe279Ser) single nucleotide variant Brody myopathy [RCV003039197] Chr16:28887630 [GRCh38]
Chr16:28898951 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.544+18G>T single nucleotide variant Brody myopathy [RCV002923888] Chr16:28884673 [GRCh38]
Chr16:28895994 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2544C>T (p.Thr848=) single nucleotide variant Brody myopathy [RCV002998868] Chr16:28902599 [GRCh38]
Chr16:28913920 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.516G>A (p.Thr172=) single nucleotide variant Brody myopathy [RCV002639015] Chr16:28884627 [GRCh38]
Chr16:28895948 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1613C>T (p.Thr538Met) single nucleotide variant Brody myopathy [RCV002909327] Chr16:28898300 [GRCh38]
Chr16:28909621 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2321+9C>T single nucleotide variant Brody myopathy [RCV002637065] Chr16:28902092 [GRCh38]
Chr16:28913413 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.499G>A (p.Ala167Thr) single nucleotide variant Brody myopathy [RCV003052918] Chr16:28884610 [GRCh38]
Chr16:28895931 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.894T>C (p.Ile298=) single nucleotide variant Brody myopathy [RCV002910023] Chr16:28887688 [GRCh38]
Chr16:28899009 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2292C>T (p.Leu764=) single nucleotide variant Brody myopathy [RCV002886686] Chr16:28902054 [GRCh38]
Chr16:28913375 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.545-9T>A single nucleotide variant Brody myopathy [RCV002658650] Chr16:28887180 [GRCh38]
Chr16:28898501 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.*38-20C>T single nucleotide variant Brody myopathy [RCV002886479] Chr16:28904160 [GRCh38]
Chr16:28915481 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2580G>A (p.Glu860=) single nucleotide variant Brody myopathy [RCV002949367] Chr16:28902635 [GRCh38]
Chr16:28913956 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1954G>A (p.Ala652Thr) single nucleotide variant Brody myopathy [RCV003079787] Chr16:28900770 [GRCh38]
Chr16:28912091 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.630+12G>A single nucleotide variant Brody myopathy [RCV003100556] Chr16:28887286 [GRCh38]
Chr16:28898607 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1575dup (p.Asn526Ter) duplication Brody myopathy [RCV003036392] Chr16:28898261..28898262 [GRCh38]
Chr16:28909582..28909583 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.819T>G (p.Leu273=) single nucleotide variant Brody myopathy [RCV002619932] Chr16:28887613 [GRCh38]
Chr16:28898934 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2113G>A (p.Val705Ile) single nucleotide variant Brody myopathy [RCV003078646] Chr16:28901875 [GRCh38]
Chr16:28913196 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2524+20C>T single nucleotide variant Brody myopathy [RCV002913601] Chr16:28902406 [GRCh38]
Chr16:28913727 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.44A>G (p.Tyr15Cys) single nucleotide variant Brody myopathy [RCV002619804] Chr16:28878715 [GRCh38]
Chr16:28890036 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.811G>C (p.Val271Leu) single nucleotide variant Brody myopathy [RCV002829363] Chr16:28887605 [GRCh38]
Chr16:28898926 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.544+1G>A single nucleotide variant Brody myopathy [RCV002663393] Chr16:28884656 [GRCh38]
Chr16:28895977 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_004320.6(ATP2A1):c.2089A>G (p.Ile697Val) single nucleotide variant Brody myopathy [RCV003026256] Chr16:28900905 [GRCh38]
Chr16:28912226 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2744+4G>A single nucleotide variant Brody myopathy [RCV003085479] Chr16:28902915 [GRCh38]
Chr16:28914236 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1974C>A (p.Phe658Leu) single nucleotide variant Brody myopathy [RCV003026142] Chr16:28900790 [GRCh38]
Chr16:28912111 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.498C>T (p.Leu166=) single nucleotide variant Brody myopathy [RCV002958924] Chr16:28884609 [GRCh38]
Chr16:28895930 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2398G>A (p.Asp800Asn) single nucleotide variant Brody myopathy [RCV002928635] Chr16:28902260 [GRCh38]
Chr16:28913581 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2506C>T (p.Arg836Cys) single nucleotide variant Brody myopathy [RCV003058229] Chr16:28902368 [GRCh38]
Chr16:28913689 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1112A>C (p.Lys371Thr) single nucleotide variant Brody myopathy [RCV002701545] Chr16:28894171 [GRCh38]
Chr16:28905492 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.58G>A (p.Glu20Lys) single nucleotide variant Brody myopathy [RCV002627239] Chr16:28878729 [GRCh38]
Chr16:28890050 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.209G>A (p.Cys70Tyr) single nucleotide variant Brody myopathy [RCV002642917] Chr16:28879573 [GRCh38]
Chr16:28890894 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2377C>T (p.Leu793=) single nucleotide variant Brody myopathy [RCV002953990] Chr16:28902239 [GRCh38]
Chr16:28913560 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2397C>T (p.Thr799=) single nucleotide variant Brody myopathy [RCV002953991] Chr16:28902259 [GRCh38]
Chr16:28913580 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2450T>G (p.Met817Arg) single nucleotide variant Brody myopathy [RCV002828682]|not provided [RCV003481336] Chr16:28902312 [GRCh38]
Chr16:28913633 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.562A>G (p.Ile188Val) single nucleotide variant Brody myopathy [RCV003143532]|Inborn genetic diseases [RCV002665244] Chr16:28887206 [GRCh38]
Chr16:28898527 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.9C>T (p.Ala3=) single nucleotide variant Brody myopathy [RCV002595515] Chr16:28878680 [GRCh38]
Chr16:28890001 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2558C>T (p.Ala853Val) single nucleotide variant Brody myopathy [RCV002700553] Chr16:28902613 [GRCh38]
Chr16:28913934 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.912G>A (p.Val304=) single nucleotide variant Brody myopathy [RCV002851072] Chr16:28887706 [GRCh38]
Chr16:28899027 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.707G>A (p.Arg236Gln) single nucleotide variant Brody myopathy [RCV002917568] Chr16:28887501 [GRCh38]
Chr16:28898822 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1912C>T (p.Arg638Ter) single nucleotide variant Brody myopathy [RCV002666524] Chr16:28900728 [GRCh38]
Chr16:28912049 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.1817_1818delinsTC (p.Glu606Val) indel Brody myopathy [RCV002982381] Chr16:28900633..28900634 [GRCh38]
Chr16:28911954..28911955 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.219+10G>A single nucleotide variant Brody myopathy [RCV002700912] Chr16:28879593 [GRCh38]
Chr16:28890914 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1938G>C (p.Glu646Asp) single nucleotide variant Brody myopathy [RCV003057582] Chr16:28900754 [GRCh38]
Chr16:28912075 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.711C>T (p.Asp237=) single nucleotide variant Brody myopathy [RCV002791023] Chr16:28887505 [GRCh38]
Chr16:28898826 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.547G>A (p.Glu183Lys) single nucleotide variant Brody myopathy [RCV002595078] Chr16:28887191 [GRCh38]
Chr16:28898512 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2021G>A (p.Cys674Tyr) single nucleotide variant Brody myopathy [RCV003057583] Chr16:28900837 [GRCh38]
Chr16:28912158 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.466G>A (p.Gly156Arg) single nucleotide variant Brody myopathy [RCV002643087] Chr16:28884577 [GRCh38]
Chr16:28895898 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.544+15G>C single nucleotide variant Brody myopathy [RCV002594805] Chr16:28884670 [GRCh38]
Chr16:28895991 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2610+12C>T single nucleotide variant Brody myopathy [RCV002626803] Chr16:28902677 [GRCh38]
Chr16:28913998 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.136+20G>A single nucleotide variant Brody myopathy [RCV003022786] Chr16:28879136 [GRCh38]
Chr16:28890457 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.177C>T (p.Asp59=) single nucleotide variant Brody myopathy [RCV002600765] Chr16:28879541 [GRCh38]
Chr16:28890862 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.464-5del deletion Brody myopathy [RCV002938551] Chr16:28884569 [GRCh38]
Chr16:28895890 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2229C>T (p.Ile743=) single nucleotide variant Brody myopathy [RCV002938432] Chr16:28901991 [GRCh38]
Chr16:28913312 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2322-14C>A single nucleotide variant Brody myopathy [RCV003065328] Chr16:28902170 [GRCh38]
Chr16:28913491 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1130_1131delinsTT (p.Cys377Phe) indel Brody myopathy [RCV002582089] Chr16:28894189..28894190 [GRCh38]
Chr16:28905510..28905511 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2105G>A (p.Gly702Asp) single nucleotide variant Inborn genetic diseases [RCV002935508] Chr16:28901867 [GRCh38]
Chr16:28913188 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2487C>T (p.Ile829=) single nucleotide variant Brody myopathy [RCV002629502] Chr16:28902349 [GRCh38]
Chr16:28913670 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.241G>A (p.Gly81Ser) single nucleotide variant Brody myopathy [RCV003049101] Chr16:28880936 [GRCh38]
Chr16:28892257 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.81C>G (p.Asp27Glu) single nucleotide variant Brody myopathy [RCV002876954]|not provided [RCV004794597] Chr16:28878752 [GRCh38]
Chr16:28890073 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1848C>T (p.Asp616=) single nucleotide variant Brody myopathy [RCV002746529] Chr16:28900664 [GRCh38]
Chr16:28911985 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.801C>T (p.Ile267=) single nucleotide variant Brody myopathy [RCV003062891] Chr16:28887595 [GRCh38]
Chr16:28898916 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1764+6C>T single nucleotide variant Brody myopathy [RCV003061352] Chr16:28898457 [GRCh38]
Chr16:28909778 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.219+20_219+21del deletion Brody myopathy [RCV002648085] Chr16:28879603..28879604 [GRCh38]
Chr16:28890924..28890925 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2524+12G>T single nucleotide variant Brody myopathy [RCV003011325] Chr16:28902398 [GRCh38]
Chr16:28913719 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.307A>G (p.Ile103Val) single nucleotide variant Brody myopathy [RCV002988878] Chr16:28881002 [GRCh38]
Chr16:28892323 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2033G>A (p.Arg678His) single nucleotide variant Brody myopathy [RCV003062910] Chr16:28900849 [GRCh38]
Chr16:28912170 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.524T>G (p.Val175Gly) single nucleotide variant Brody myopathy [RCV003087136] Chr16:28884635 [GRCh38]
Chr16:28895956 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.648C>T (p.Ala216=) single nucleotide variant Brody myopathy [RCV002988682] Chr16:28887442 [GRCh38]
Chr16:28898763 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1699C>G (p.Arg567Gly) single nucleotide variant Brody myopathy [RCV003009463] Chr16:28898386 [GRCh38]
Chr16:28909707 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.420C>G (p.Ile140Met) single nucleotide variant Brody myopathy [RCV002900309] Chr16:28882546 [GRCh38]
Chr16:28893867 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2512A>G (p.Met838Val) single nucleotide variant Brody myopathy [RCV002601628] Chr16:28902374 [GRCh38]
Chr16:28913695 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2832C>T (p.His944=) single nucleotide variant Brody myopathy [RCV002792025] Chr16:28903117 [GRCh38]
Chr16:28914438 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1106T>C (p.Ile369Thr) single nucleotide variant Brody myopathy [RCV002628536] Chr16:28894165 [GRCh38]
Chr16:28905486 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2507G>A (p.Arg836His) single nucleotide variant Brody myopathy [RCV002579242] Chr16:28902369 [GRCh38]
Chr16:28913690 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1050C>T (p.Ser350=) single nucleotide variant Brody myopathy [RCV002966634] Chr16:28888908 [GRCh38]
Chr16:28900229 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2744+19C>T single nucleotide variant Brody myopathy [RCV003047753] Chr16:28902930 [GRCh38]
Chr16:28914251 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.916G>T (p.Ala306Ser) single nucleotide variant Brody myopathy [RCV003030301] Chr16:28887710 [GRCh38]
Chr16:28899031 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.593G>T (p.Arg198Leu) single nucleotide variant Brody myopathy [RCV002649588] Chr16:28887237 [GRCh38]
Chr16:28898558 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1914A>G (p.Arg638=) single nucleotide variant Brody myopathy [RCV003048734] Chr16:28900730 [GRCh38]
Chr16:28912051 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2906T>C (p.Met969Thr) single nucleotide variant Brody myopathy [RCV003060704] Chr16:28903366 [GRCh38]
Chr16:28914687 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.367G>C (p.Glu123Gln) single nucleotide variant Brody myopathy [RCV002856419] Chr16:28882493 [GRCh38]
Chr16:28893814 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1251T>G (p.Cys417Trp) single nucleotide variant Brody myopathy [RCV003030386] Chr16:28894571 [GRCh38]
Chr16:28905892 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1287+20C>G single nucleotide variant Brody myopathy [RCV002650988] Chr16:28894627 [GRCh38]
Chr16:28905948 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.459G>A (p.Val153=) single nucleotide variant Brody myopathy [RCV003090149] Chr16:28882585 [GRCh38]
Chr16:28893906 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.464-10C>G single nucleotide variant Brody myopathy [RCV002597842] Chr16:28884565 [GRCh38]
Chr16:28895886 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2852A>G (p.Asp951Gly) single nucleotide variant Brody myopathy [RCV002806425] Chr16:28903137 [GRCh38]
Chr16:28914458 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.119-15_119-13del microsatellite Brody myopathy [RCV002649900]|not provided [RCV003126258] Chr16:28879079..28879081 [GRCh38]
Chr16:28890400..28890402 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2862+10C>A single nucleotide variant Brody myopathy [RCV002604383] Chr16:28903157 [GRCh38]
Chr16:28914478 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.299C>T (p.Ala100Val) single nucleotide variant Brody myopathy [RCV003050158] Chr16:28880994 [GRCh38]
Chr16:28892315 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1675C>T (p.Leu559=) single nucleotide variant Brody myopathy [RCV002604922] Chr16:28898362 [GRCh38]
Chr16:28909683 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.118+1G>T single nucleotide variant Brody myopathy [RCV003069085] Chr16:28878790 [GRCh38]
Chr16:28890111 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_004320.6(ATP2A1):c.1546-17C>T single nucleotide variant Brody myopathy [RCV002608433] Chr16:28898216 [GRCh38]
Chr16:28909537 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2692A>T (p.Thr898Ser) single nucleotide variant Brody myopathy [RCV002634780] Chr16:28902859 [GRCh38]
Chr16:28914180 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.928+9G>A single nucleotide variant Brody myopathy [RCV003068573] Chr16:28887731 [GRCh38]
Chr16:28899052 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1315G>A (p.Glu439Lys) single nucleotide variant Brody myopathy [RCV002586003] Chr16:28894849 [GRCh38]
Chr16:28906170 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1001G>A (p.Arg334Lys) single nucleotide variant Brody myopathy [RCV002586973] Chr16:28888859 [GRCh38]
Chr16:28900180 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2176G>A (p.Val726Met) single nucleotide variant Brody myopathy [RCV002588483] Chr16:28901938 [GRCh38]
Chr16:28913259 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2967G>C (p.Arg989=) single nucleotide variant Brody myopathy [RCV003049952] Chr16:28903427 [GRCh38]
Chr16:28914748 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2464C>T (p.Arg822Trp) single nucleotide variant Brody myopathy [RCV002611166] Chr16:28902326 [GRCh38]
Chr16:28913647 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1643T>C (p.Val548Ala) single nucleotide variant Brody myopathy [RCV002603680] Chr16:28898330 [GRCh38]
Chr16:28909651 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1338C>T (p.Thr446=) single nucleotide variant Brody myopathy [RCV003072278] Chr16:28894872 [GRCh38]
Chr16:28906193 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2101-4_2101-3del deletion Brody myopathy [RCV003072627] Chr16:28901858..28901859 [GRCh38]
Chr16:28913179..28913180 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.464-5C>T single nucleotide variant Brody myopathy [RCV002587865] Chr16:28884570 [GRCh38]
Chr16:28895891 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2303A>G (p.Asn768Ser) single nucleotide variant Inborn genetic diseases [RCV003211520] Chr16:28902065 [GRCh38]
Chr16:28913386 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.401G>A (p.Arg134His) single nucleotide variant Brody myopathy [RCV003143616] Chr16:28882527 [GRCh38]
Chr16:28893848 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.632G>T (p.Gly211Val) single nucleotide variant Brody myopathy [RCV003143617] Chr16:28887426 [GRCh38]
Chr16:28898747 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2323A>C (p.Ile775Leu) single nucleotide variant Brody myopathy [RCV003143618] Chr16:28902185 [GRCh38]
Chr16:28913506 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2012G>A (p.Arg671Gln) single nucleotide variant Brody myopathy [RCV003143620] Chr16:28900828 [GRCh38]
Chr16:28912149 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2480C>T (p.Pro827Leu) single nucleotide variant Brody myopathy [RCV003143621] Chr16:28902342 [GRCh38]
Chr16:28913663 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.856G>A (p.Gly286Ser) single nucleotide variant Brody myopathy [RCV003143622] Chr16:28887650 [GRCh38]
Chr16:28898971 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.554T>C (p.Val185Ala) single nucleotide variant Brody myopathy [RCV003143623] Chr16:28887198 [GRCh38]
Chr16:28898519 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1526G>A (p.Gly509Asp) single nucleotide variant Brody myopathy [RCV003143624] Chr16:28898106 [GRCh38]
Chr16:28909427 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1676T>C (p.Leu559Pro) single nucleotide variant Brody myopathy [RCV003143625] Chr16:28898363 [GRCh38]
Chr16:28909684 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.730C>A (p.Gln244Lys) single nucleotide variant Brody myopathy [RCV003143627] Chr16:28887524 [GRCh38]
Chr16:28898845 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.649G>A (p.Gly217Ser) single nucleotide variant Brody myopathy [RCV003143628]|not provided [RCV004697270] Chr16:28887443 [GRCh38]
Chr16:28898764 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.436G>A (p.Val146Ile) single nucleotide variant Brody myopathy [RCV003143629] Chr16:28882562 [GRCh38]
Chr16:28893883 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.790A>G (p.Ile264Val) single nucleotide variant Brody myopathy [RCV003143630] Chr16:28887584 [GRCh38]
Chr16:28898905 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1778T>A (p.Phe593Tyr) single nucleotide variant Brody myopathy [RCV003143631] Chr16:28900594 [GRCh38]
Chr16:28911915 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.973C>T (p.Arg325Trp) single nucleotide variant Brody myopathy [RCV003143632] Chr16:28888831 [GRCh38]
Chr16:28900152 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1957T>C (p.Tyr653His) single nucleotide variant Brody myopathy [RCV003143633] Chr16:28900773 [GRCh38]
Chr16:28912094 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1051G>A (p.Asp351Asn) single nucleotide variant Brody myopathy [RCV003143634] Chr16:28888909 [GRCh38]
Chr16:28900230 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1667G>A (p.Arg556Gln) single nucleotide variant Brody myopathy [RCV003143635] Chr16:28898354 [GRCh38]
Chr16:28909675 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.671C>G (p.Ala224Gly) single nucleotide variant Brody myopathy [RCV003143636] Chr16:28887465 [GRCh38]
Chr16:28898786 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2431C>A (p.Pro811Thr) single nucleotide variant Brody myopathy [RCV003143637]|Inborn genetic diseases [RCV004246102] Chr16:28902293 [GRCh38]
Chr16:28913614 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1430A>G (p.Gln477Arg) single nucleotide variant Brody myopathy [RCV003143638] Chr16:28898010 [GRCh38]
Chr16:28909331 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1710C>A (p.Pro570=) single nucleotide variant Brody myopathy [RCV003143640] Chr16:28898397 [GRCh38]
Chr16:28909718 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1636A>G (p.Met546Val) single nucleotide variant Brody myopathy [RCV003143641] Chr16:28898323 [GRCh38]
Chr16:28909644 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2122G>A (p.Ala708Thr) single nucleotide variant Brody myopathy [RCV003143642] Chr16:28901884 [GRCh38]
Chr16:28913205 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1813A>G (p.Lys605Glu) single nucleotide variant Brody myopathy [RCV003143643] Chr16:28900629 [GRCh38]
Chr16:28911950 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1936G>C (p.Glu646Gln) single nucleotide variant Brody myopathy [RCV003143644] Chr16:28900752 [GRCh38]
Chr16:28912073 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1789G>C (p.Val597Leu) single nucleotide variant Inborn genetic diseases [RCV003304087] Chr16:28900605 [GRCh38]
Chr16:28911926 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28834531-29001678)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV003329530] Chr16:28834531..29001678 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2117A>G (p.Asn706Ser) single nucleotide variant Inborn genetic diseases [RCV003357747] Chr16:28901879 [GRCh38]
Chr16:28913200 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28824491-29070000)x1 copy number loss not provided [RCV003483284] Chr16:28824491..29070000 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2940C>T (p.Leu980=) single nucleotide variant Brody myopathy [RCV003874968] Chr16:28903400 [GRCh38]
Chr16:28914721 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:28747521-29084772)x1 copy number loss not provided [RCV003483281] Chr16:28747521..29084772 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28441539-29351827)x3 copy number gain not provided [RCV003485107] Chr16:28441539..29351827 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28747521-29043450)x3 copy number gain not provided [RCV003485108] Chr16:28747521..29043450 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28802398-29051191)x3 copy number gain not provided [RCV003485109] Chr16:28802398..29051191 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28819029-28998525)x3 copy number gain not provided [RCV003485110] Chr16:28819029..28998525 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.352G>C (p.Ala118Pro) single nucleotide variant not provided [RCV003482875] Chr16:28882478 [GRCh38]
Chr16:28893799 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28819029-29088624)x1 copy number loss not provided [RCV003483282] Chr16:28819029..29088624 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.1288-5C>G single nucleotide variant not provided [RCV003482865] Chr16:28894817 [GRCh38]
Chr16:28906138 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2203C>A (p.Leu735Met) single nucleotide variant not provided [RCV003426645] Chr16:28901965 [GRCh38]
Chr16:28913286 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2862+14C>T single nucleotide variant Brody myopathy [RCV003518018] Chr16:28903161 [GRCh38]
Chr16:28914482 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2248G>A (p.Gly750Ser) single nucleotide variant Brody myopathy [RCV003486019] Chr16:28902010 [GRCh38]
Chr16:28913331 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1184+20T>C single nucleotide variant Brody myopathy [RCV003518252] Chr16:28894263 [GRCh38]
Chr16:28905584 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2524+1G>A single nucleotide variant Brody myopathy [RCV003518525] Chr16:28902387 [GRCh38]
Chr16:28913708 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_004320.6(ATP2A1):c.2101-15CTC[2] microsatellite Brody myopathy [RCV003518278] Chr16:28901848..28901850 [GRCh38]
Chr16:28913169..28913171 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1287+16C>T single nucleotide variant Brody myopathy [RCV003518396] Chr16:28894623 [GRCh38]
Chr16:28905944 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.119-16T>C single nucleotide variant Brody myopathy [RCV003518597] Chr16:28879083 [GRCh38]
Chr16:28890404 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.325-20C>T single nucleotide variant Brody myopathy [RCV003518123] Chr16:28882431 [GRCh38]
Chr16:28893752 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2401G>A (p.Gly801Arg) single nucleotide variant Brody myopathy [RCV003518308] Chr16:28902263 [GRCh38]
Chr16:28913584 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2075A>G (p.Gln692Arg) single nucleotide variant Brody myopathy [RCV003518609] Chr16:28900891 [GRCh38]
Chr16:28912212 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.185T>G (p.Val62Gly) single nucleotide variant Brody myopathy [RCV003486017] Chr16:28879549 [GRCh38]
Chr16:28890870 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2490T>C (p.Ser830=) single nucleotide variant Brody myopathy [RCV003827845] Chr16:28902352 [GRCh38]
Chr16:28913673 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2745-17C>T single nucleotide variant Brody myopathy [RCV003516991] Chr16:28903013 [GRCh38]
Chr16:28914334 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2664_2665del (p.Cys888_Glu889delinsTer) microsatellite Brody myopathy [RCV003878929] Chr16:28902829..28902830 [GRCh38]
Chr16:28914150..28914151 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.144C>G (p.Thr48=) single nucleotide variant Brody myopathy [RCV003517981] Chr16:28879508 [GRCh38]
Chr16:28890829 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh38/hg38 16p11.2(chr16:28825316-29028291) copy number loss Autism spectrum disorder [RCV003883415] Chr16:28825316..29028291 [GRCh38]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.2073G>A (p.Leu691=) single nucleotide variant Brody myopathy [RCV003828908] Chr16:28900889 [GRCh38]
Chr16:28912210 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1095+13G>A single nucleotide variant Brody myopathy [RCV003516746] Chr16:28888966 [GRCh38]
Chr16:28900287 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1712dup (p.Lys572fs) duplication Brody myopathy [RCV003516877] Chr16:28898392..28898393 [GRCh38]
Chr16:28909713..28909714 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.1587A>T (p.Arg529=) single nucleotide variant Brody myopathy [RCV003517767] Chr16:28898274 [GRCh38]
Chr16:28909595 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2702T>C (p.Leu901Pro) single nucleotide variant Brody myopathy [RCV003517878] Chr16:28902869 [GRCh38]
Chr16:28914190 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2610+8G>A single nucleotide variant Brody myopathy [RCV003879205] Chr16:28902673 [GRCh38]
Chr16:28913994 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2525-20C>T single nucleotide variant Brody myopathy [RCV003879592] Chr16:28902560 [GRCh38]
Chr16:28913881 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.520C>T (p.Arg174Trp) single nucleotide variant Brody myopathy [RCV003486018] Chr16:28884631 [GRCh38]
Chr16:28895952 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.294C>T (p.Leu98=) single nucleotide variant Brody myopathy [RCV003632133] Chr16:28880989 [GRCh38]
Chr16:28892310 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1465C>T (p.Arg489Ter) single nucleotide variant Brody myopathy [RCV003852320] Chr16:28898045 [GRCh38]
Chr16:28909366 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.1699C>A (p.Arg567=) single nucleotide variant Brody myopathy [RCV003632434] Chr16:28898386 [GRCh38]
Chr16:28909707 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1420-17C>T single nucleotide variant Brody myopathy [RCV003851309] Chr16:28897983 [GRCh38]
Chr16:28909304 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.631-12T>C single nucleotide variant Brody myopathy [RCV003850415] Chr16:28887413 [GRCh38]
Chr16:28898734 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1686G>A (p.Leu562=) single nucleotide variant Brody myopathy [RCV003631368] Chr16:28898373 [GRCh38]
Chr16:28909694 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1096-10T>C single nucleotide variant Brody myopathy [RCV003631588] Chr16:28894145 [GRCh38]
Chr16:28905466 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.544+12T>G single nucleotide variant Brody myopathy [RCV003632022] Chr16:28884667 [GRCh38]
Chr16:28895988 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1419+20G>A single nucleotide variant Brody myopathy [RCV003632534] Chr16:28894973 [GRCh38]
Chr16:28906294 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.928+18T>C single nucleotide variant Brody myopathy [RCV003632812] Chr16:28887740 [GRCh38]
Chr16:28899061 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2100+15del deletion Brody myopathy [RCV003632137] Chr16:28900930 [GRCh38]
Chr16:28912251 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2862+16C>A single nucleotide variant Brody myopathy [RCV003632286] Chr16:28903163 [GRCh38]
Chr16:28914484 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2820C>T (p.Ser940=) single nucleotide variant Brody myopathy [RCV003632966] Chr16:28903105 [GRCh38]
Chr16:28914426 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2525-1G>A single nucleotide variant Brody myopathy [RCV003631916] Chr16:28902579 [GRCh38]
Chr16:28913900 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_004320.6(ATP2A1):c.735C>T (p.Asp245=) single nucleotide variant Brody myopathy [RCV003632232] Chr16:28887529 [GRCh38]
Chr16:28898850 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1470C>T (p.Asp490=) single nucleotide variant Brody myopathy [RCV003631907] Chr16:28898050 [GRCh38]
Chr16:28909371 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1183G>T (p.Val395Phe) single nucleotide variant Brody myopathy [RCV003631975] Chr16:28894242 [GRCh38]
Chr16:28905563 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.6G>A (p.Glu2=) single nucleotide variant Brody myopathy [RCV003631488] Chr16:28878677 [GRCh38]
Chr16:28889998 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.381G>C (p.Gly127=) single nucleotide variant Brody myopathy [RCV003632292] Chr16:28882507 [GRCh38]
Chr16:28893828 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1050C>G (p.Ser350=) single nucleotide variant Brody myopathy [RCV003632562] Chr16:28888908 [GRCh38]
Chr16:28900229 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1695C>A (p.Ala565=) single nucleotide variant Brody myopathy [RCV003631369] Chr16:28898382 [GRCh38]
Chr16:28909703 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.2745-15C>A single nucleotide variant Brody myopathy [RCV003632830] Chr16:28903015 [GRCh38]
Chr16:28914336 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.333C>T (p.Asn111=) single nucleotide variant ATP2A1-related disorder [RCV003949008]|Brody myopathy [RCV003632924] Chr16:28882459 [GRCh38]
Chr16:28893780 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1344G>A (p.Leu448=) single nucleotide variant Brody myopathy [RCV003870636] Chr16:28894878 [GRCh38]
Chr16:28906199 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.219+5G>A single nucleotide variant Brody myopathy [RCV003870384] Chr16:28879588 [GRCh38]
Chr16:28890909 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1712del (p.Pro571fs) deletion Brody myopathy [RCV003864754] Chr16:28898393 [GRCh38]
Chr16:28909714 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28486928-29438326)x1 copy number loss not specified [RCV003987144] Chr16:28486928..29438326 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28371467-29379768)x1 copy number loss not specified [RCV003987151] Chr16:28371467..29379768 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28824490-28932234)x3 copy number gain not specified [RCV003987180] Chr16:28824490..28932234 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.972T>C (p.Arg324=) single nucleotide variant Brody myopathy [RCV003867793] Chr16:28888830 [GRCh38]
Chr16:28900151 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:28485883-29347116)x1 copy number loss not specified [RCV003987198] Chr16:28485883..29347116 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.137-7C>A single nucleotide variant Brody myopathy [RCV003819376] Chr16:28879494 [GRCh38]
Chr16:28890815 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.630+20C>G single nucleotide variant Brody myopathy [RCV003821304] Chr16:28887294 [GRCh38]
Chr16:28898615 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.463+16G>C single nucleotide variant Brody myopathy [RCV003847337] Chr16:28882605 [GRCh38]
Chr16:28893926 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004320.6(ATP2A1):c.1869G>T (p.Met623Ile) single nucleotide variant Inborn genetic diseases [RCV004418363] Chr16:28900685 [GRCh38]
Chr16:28912006 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2368G>A (p.Val790Met) single nucleotide variant Inborn genetic diseases [RCV004418364] Chr16:28902230 [GRCh38]
Chr16:28913551 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1088T>C (p.Val363Ala) single nucleotide variant Inborn genetic diseases [RCV004418361] Chr16:28888946 [GRCh38]
Chr16:28900267 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2849T>C (p.Val950Ala) single nucleotide variant Inborn genetic diseases [RCV004418365] Chr16:28903134 [GRCh38]
Chr16:28914455 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1445A>G (p.Glu482Gly) single nucleotide variant Inborn genetic diseases [RCV004418362] Chr16:28898025 [GRCh38]
Chr16:28909346 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.343G>T (p.Ala115Ser) single nucleotide variant ATP2A1-related disorder [RCV003961687] Chr16:28882469 [GRCh38]
Chr16:28893790 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2149G>T (p.Gly717Cys) single nucleotide variant not provided [RCV004590884] Chr16:28901911 [GRCh38]
Chr16:28913232 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28823315-29047087)x3 copy number gain not provided [RCV004577471] Chr16:28823315..29047087 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.9:g.(?_28889993)_(31202759_?)del deletion Dilated Cardiomyopathy, Dominant [RCV004582801] Chr16:28889993..31202759 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.9:g.(?_28488837)_(29001333_?)del deletion Brody myopathy [RCV004582649] Chr16:28488837..29001333 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004320.6(ATP2A1):c.1625A>G (p.Lys542Arg) single nucleotide variant Inborn genetic diseases [RCV004677534] Chr16:28898312 [GRCh38]
Chr16:28909633 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.970C>T (p.Arg324Cys) single nucleotide variant not provided [RCV004698333] Chr16:28888828 [GRCh38]
Chr16:28900149 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1699C>T (p.Arg567Trp) single nucleotide variant Inborn genetic diseases [RCV004677531] Chr16:28898386 [GRCh38]
Chr16:28909707 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.1942G>A (p.Val648Met) single nucleotide variant Inborn genetic diseases [RCV004677543] Chr16:28900758 [GRCh38]
Chr16:28912079 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.826A>G (p.Ile276Val) single nucleotide variant Inborn genetic diseases [RCV004677545] Chr16:28887620 [GRCh38]
Chr16:28898941 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004320.6(ATP2A1):c.2465G>A (p.Arg822Gln) single nucleotide variant ATP2A1-related disorder [RCV004746731] Chr16:28902327 [GRCh38]
Chr16:28913648 [GRCh37]
Chr16:16p11.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2650
Count of miRNA genes:843
Interacting mature miRNAs:1007
Transcripts:ENST00000357084, ENST00000395503, ENST00000536376, ENST00000562185, ENST00000563975, ENST00000564112, ENST00000564470, ENST00000564732, ENST00000565042
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407001649GWAS650625_Hmean corpuscular volume QTL GWAS650625 (human)7e-47mean corpuscular volumemean corpuscular volume (CMO:0000038)162888225028882251Human
407101558GWAS750534_Hmean corpuscular hemoglobin QTL GWAS750534 (human)2e-15mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)162888225028882251Human
407002343GWAS651319_HBMI-adjusted waist circumference QTL GWAS651319 (human)2e-15BMI-adjusted waist circumference162889476328894764Human
406999300GWAS648276_Hmean corpuscular volume QTL GWAS648276 (human)4e-49mean corpuscular volumemean corpuscular volume (CMO:0000038)162888225028882251Human
407085512GWAS734488_Hhip circumference QTL GWAS734488 (human)2e-41hip circumferencehip circumference (CMO:0000014)162888613128886132Human
407085230GWAS734206_Hwaist circumference QTL GWAS734206 (human)9e-40waist circumferencewaist circumference (CMO:0000242)162888613128886132Human
407092861GWAS741837_Hwaist circumference QTL GWAS741837 (human)6e-15waist circumferencewaist circumference (CMO:0000242)162888613128886132Human
407084940GWAS733916_Hhip circumference QTL GWAS733916 (human)1e-09hip circumferencehip circumference (CMO:0000014)162888613128886132Human

Markers in Region
SHGC-61052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371628,885,178 - 28,885,317UniSTSGRCh37
Build 361628,792,679 - 28,792,818RGDNCBI36
Celera1627,839,935 - 27,840,074RGD
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map16p12.1UniSTS
HuRef1626,752,515 - 26,752,654UniSTS
TNG Radiation Hybrid Map1616280.0UniSTS
RH48558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371628,894,516 - 28,894,667UniSTSGRCh37
Build 361628,802,017 - 28,802,168RGDNCBI36
Celera1627,849,304 - 27,849,455RGD
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map16p12.1UniSTS
HuRef1626,761,851 - 26,762,002UniSTS
SH2B_9440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371628,884,896 - 28,885,530UniSTSGRCh37
Build 361628,792,397 - 28,793,031RGDNCBI36
Celera1627,839,653 - 27,840,287RGD
HuRef1626,752,233 - 26,752,867UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2434 2788 2248 4948 1717 2340 5 618 1946 458 2269 7281 6461 53 3711 1 847 1738 1613 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC109460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC133550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL706356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU737186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF139859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF139860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB975088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD032498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000357084   ⟹   ENSP00000349595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1628,878,405 - 28,904,464 (+)Ensembl
Ensembl Acc Id: ENST00000395503   ⟹   ENSP00000378879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1628,878,488 - 28,904,466 (+)Ensembl
Ensembl Acc Id: ENST00000536376   ⟹   ENSP00000443101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1628,880,053 - 28,904,464 (+)Ensembl
Ensembl Acc Id: ENST00000562185   ⟹   ENSP00000457798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1628,879,243 - 28,882,580 (+)Ensembl
Ensembl Acc Id: ENST00000563975   ⟹   ENSP00000458035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1628,878,861 - 28,882,551 (+)Ensembl
Ensembl Acc Id: ENST00000564112   ⟹   ENSP00000457793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1628,903,373 - 28,903,826 (+)Ensembl
Ensembl Acc Id: ENST00000564470   ⟹   ENSP00000457148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1628,888,897 - 28,894,219 (+)Ensembl
Ensembl Acc Id: ENST00000564732   ⟹   ENSP00000457357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1628,887,663 - 28,900,618 (+)Ensembl
Ensembl Acc Id: ENST00000565042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1628,888,897 - 28,894,219 (+)Ensembl
RefSeq Acc Id: NM_001286075   ⟹   NP_001273004
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,880,043 - 28,904,466 (+)NCBI
HuRef1626,757,144 - 26,783,172 (+)NCBI
CHM1_11629,903,200 - 29,927,644 (+)NCBI
T2T-CHM13v2.01629,160,543 - 29,184,960 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004320   ⟹   NP_004311
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,878,488 - 28,904,466 (+)NCBI
GRCh371628,889,192 - 28,915,830 (+)NCBI
Build 361628,797,310 - 28,823,331 (+)NCBI Archive
HuRef1626,757,144 - 26,783,172 (+)ENTREZGENE
CHM1_11629,901,645 - 29,927,644 (+)NCBI
T2T-CHM13v2.01629,158,988 - 29,184,960 (+)NCBI
Sequence:
RefSeq Acc Id: NM_173201   ⟹   NP_775293
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,878,488 - 28,904,466 (+)NCBI
GRCh371628,889,192 - 28,915,830 (+)NCBI
Build 361628,797,310 - 28,823,331 (+)NCBI Archive
HuRef1626,757,144 - 26,783,172 (+)ENTREZGENE
CHM1_11629,901,645 - 29,927,644 (+)NCBI
T2T-CHM13v2.01629,158,988 - 29,184,960 (+)NCBI
Sequence:
RefSeq Acc Id: NP_004311   ⟸   NM_004320
- Peptide Label: isoform a
- UniProtKB: Q7Z675 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_775293   ⟸   NM_173201
- Peptide Label: isoform b
- UniProtKB: B3KY17 (UniProtKB/Swiss-Prot),   A8K5J9 (UniProtKB/Swiss-Prot),   O14984 (UniProtKB/Swiss-Prot),   O14983 (UniProtKB/Swiss-Prot),   Q7Z675 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273004   ⟸   NM_001286075
- Peptide Label: isoform c
- UniProtKB: Q7Z675 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000443101   ⟸   ENST00000536376
Ensembl Acc Id: ENSP00000457798   ⟸   ENST00000562185
Ensembl Acc Id: ENSP00000458035   ⟸   ENST00000563975
Ensembl Acc Id: ENSP00000457148   ⟸   ENST00000564470
Ensembl Acc Id: ENSP00000457793   ⟸   ENST00000564112
Ensembl Acc Id: ENSP00000457357   ⟸   ENST00000564732
Ensembl Acc Id: ENSP00000378879   ⟸   ENST00000395503
Ensembl Acc Id: ENSP00000349595   ⟸   ENST00000357084
Protein Domains
Cation-transporting P-type ATPase N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14983-F1-model_v2 AlphaFold O14983 1-1001 view protein structure

Promoters
RGD ID:6792817
Promoter ID:HG_KWN:23417
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000395498,   ENST00000395503,   OTTHUMT00000254686
Position:
Human AssemblyChrPosition (strand)Source
Build 361628,797,376 - 28,797,876 (+)MPROMDB
RGD ID:6792814
Promoter ID:HG_KWN:23418
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
Transcripts:UC002DRP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361628,798,406 - 28,798,906 (+)MPROMDB
RGD ID:6810891
Promoter ID:HG_ACW:30105
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:ATP2A1.GAPR07,   ATP2A1.HAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361628,821,644 - 28,822,144 (+)MPROMDB
RGD ID:7231767
Promoter ID:EPDNEW_H21630
Type:multiple initiation site
Name:ATP2A1_1
Description:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381628,878,488 - 28,878,548EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:811 AgrOrtholog
COSMIC ATP2A1 COSMIC
Ensembl Genes ENSG00000196296 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000357084 ENTREZGENE
  ENST00000357084.7 UniProtKB/Swiss-Prot
  ENST00000395503 ENTREZGENE
  ENST00000395503.9 UniProtKB/Swiss-Prot
  ENST00000536376 ENTREZGENE
  ENST00000536376.5 UniProtKB/Swiss-Prot
  ENST00000562185.5 UniProtKB/TrEMBL
  ENST00000563975.1 UniProtKB/TrEMBL
  ENST00000564112.1 UniProtKB/TrEMBL
  ENST00000564470.1 UniProtKB/TrEMBL
  ENST00000564732.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.1110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calcium-transporting ATPase, cytoplasmic transduction domain A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calcium-transporting ATPase, transmembrane domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196296 GTEx
HGNC ID HGNC:811 ENTREZGENE
Human Proteome Map ATP2A1 Human Proteome Map
InterPro ATPase_P-typ_cation-transptr_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_cation-transptr_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_cyto_dom_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_P_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_TM_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_transduc_dom_A_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-type_ATPase_IIA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_typ_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_typ_ATPase_HD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:487 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 487 ENTREZGENE
OMIM 108730 OMIM
PANTHER CALCIUM-TRANSPORTING ATPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SARCOPLASMIC/ENDOPLASMIC RETICULUM CALCIUM ATPASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cation_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cation_ATPase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cation_ATPase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E1-E2_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ATP2A1 RGD, PharmGKB
PRINTS CATATPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HATPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ATPASE_E1_E2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Cation_ATPase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81653 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81660 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81665 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K5J9 ENTREZGENE
  AT2A1_HUMAN UniProtKB/Swiss-Prot
  B3KY17 ENTREZGENE
  H3BTF1_HUMAN UniProtKB/TrEMBL
  H3BTW4_HUMAN UniProtKB/TrEMBL
  H3BUT9_HUMAN UniProtKB/TrEMBL
  H3BUU3_HUMAN UniProtKB/TrEMBL
  H3BVB2_HUMAN UniProtKB/TrEMBL
  O14983 ENTREZGENE
  O14984 ENTREZGENE
  Q7Z675 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K5J9 UniProtKB/Swiss-Prot
  B3KY17 UniProtKB/Swiss-Prot
  O14984 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 ATP2A1  ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1  ATP2A1  ATPase, Ca++ transporting, cardiac muscle, fast twitch 1  Symbol and/or name change 5135510 APPROVED