ATP7A (ATPase copper transporting alpha) - Rat Genome Database

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Gene: ATP7A (ATPase copper transporting alpha) Homo sapiens
Analyze
Symbol: ATP7A
Name: ATPase copper transporting alpha
RGD ID: 10216
HGNC Page HGNC:869
Description: Enables several functions, including ATP binding activity; P-type monovalent copper transporter activity; and copper-dependent protein binding activity. Involved in copper ion export; intracellular copper ion homeostasis; and positive regulation of melanin biosynthetic process. Located in several cellular components, including basolateral plasma membrane; cytoplasmic vesicle; and trans-Golgi network. Implicated in Menkes disease; X-linked distal spinal muscular atrophy 3; cutis laxa; and occipital horn syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATPase, Cu++ transporting, alpha polypeptide; ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome); copper pump 1; copper-transporting ATPase 1; Cu++-transporting P-type ATPase; DSMAX; FLJ17790; HMNX; Menkes disease-associated protein; MK; MNK; SMAX3
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
GRCh38X77,910,693 - 78,050,395 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX77,910,690 - 78,050,395 (+)Ensemblhg38GRCh38
GRCh37X77,166,190 - 77,305,892 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X77,052,876 - 77,192,208 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34X76,972,343 - 77,111,584NCBI
CeleraX77,407,059 - 77,546,975 (+)NCBICelera
Cytogenetic MapXq21.1NCBI
HuRefX70,752,187 - 70,892,316 (+)NCBIHuRef
CHM1_1X77,058,882 - 77,198,586 (+)NCBICHM1_1
T2T-CHM13v2.0X76,345,749 - 76,485,475 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1'-azobis(N,N-dimethylformamide)  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-dithiothreitol  (EXP)
17alpha-ethynylestradiol  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxy-TEMPO  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetylcholine  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (ISO)
ATP  (EXP)
atrazine  (EXP)
Azoxymethane  (ISO)
bathocuproine disulfonic acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
brefeldin A  (EXP)
butanal  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
carboplatin  (EXP)
chloroprene  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP,ISO)
copper(II) sulfate  (EXP)
CU-O LINKAGE  (EXP)
cycloheximide  (ISO)
cyclosporin A  (EXP,ISO)
D-penicillamine  (EXP)
decabromodiphenyl ether  (ISO)
desferrioxamine B  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
folic acid  (ISO)
FR900359  (EXP)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP)
irinotecan  (EXP)
iron atom  (ISO)
iron(0)  (ISO)
ketamine  (ISO)
L-1,4-dithiothreitol  (EXP)
lead diacetate  (ISO)
lead(0)  (ISO)
lipopolysaccharide  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
melanins  (EXP)
methapyrilene  (EXP)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mithramycin  (ISO)
mitoxantrone  (EXP)
monensin A  (EXP)
N-ethylmaleimide  (EXP)
neocuproine  (ISO)
nitrofen  (ISO)
omeprazole  (EXP,ISO)
oxaliplatin  (EXP)
paclitaxel  (EXP)
paracetamol  (ISO)
paraquat  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (ISO)
platinum  (ISO)
platinum(0)  (ISO)
potassium chromate  (EXP)
pyrrolidine dithiocarbamate  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
satraplatin  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP,ISO)
silver monochloride  (ISO)
silver(0)  (EXP,ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
succimer  (ISO)
superoxide  (ISO)
tetrachloromethane  (ISO)
tetrathiomolybdate(2-)  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
ATP metabolic process  (IEA)
blood vessel development  (IEA,ISS)
blood vessel remodeling  (IEA,ISS)
cartilage development  (IEA,ISS)
catecholamine metabolic process  (IEA,ISO,ISS)
cellular response to amino acid stimulus  (ISO)
cellular response to antibiotic  (ISO)
cellular response to cadmium ion  (ISO)
cellular response to cobalt ion  (ISO)
cellular response to copper ion  (ISO)
cellular response to hypoxia  (ISO)
cellular response to iron ion  (ISO)
cellular response to lead ion  (ISO)
cellular response to platelet-derived growth factor stimulus  (ISO)
central nervous system neuron development  (IEA,ISS)
cerebellar Purkinje cell differentiation  (IEA,ISS)
collagen fibril organization  (IEA,ISS)
copper ion export  (IBA,IDA,IEA,ISO,ISS)
copper ion import  (IBA,IEA,ISS)
copper ion transmembrane transport  (IEA)
copper ion transport  (IEA,IMP)
dendrite morphogenesis  (IEA)
detoxification of copper ion  (IEA,ISS)
dopamine metabolic process  (IEA,ISS)
elastic fiber assembly  (IEA,ISS)
epinephrine metabolic process  (IEA,ISS)
establishment of localization in cell  (IEA)
extracellular matrix organization  (IEA,ISS)
female pregnancy  (ISO)
glycoprotein biosynthetic process  (ISO,ISS)
hair follicle morphogenesis  (IEA,ISS)
hindlimb morphogenesis  (ISO)
in utero embryonic development  (ISO)
intracellular copper ion homeostasis  (IBA,IEA,IMP)
L-tryptophan metabolic process  (IEA,ISS)
lactation  (ISO)
liver development  (ISO)
locomotory behavior  (IEA,ISS)
lung alveolus development  (IEA,ISS)
mitochondrion organization  (IEA,ISS)
monoatomic cation transmembrane transport  (IEA)
monoatomic cation transport  (IEA)
monoatomic ion transport  (IEA)
negative regulation of catecholamine metabolic process  (IEA)
negative regulation of iron ion transmembrane transport  (ISO)
negative regulation of neuron apoptotic process  (IEA)
neuron apoptotic process  (IEA)
neuron cellular homeostasis  (IEA)
neuron projection morphogenesis  (IEA,ISS)
norepinephrine biosynthetic process  (IEA)
norepinephrine metabolic process  (IEA,ISS)
peptidyl-lysine modification  (ISO)
pigmentation  (IEA,ISS)
positive regulation of catalytic activity  (ISO)
positive regulation of cell size  (ISO)
positive regulation of cytochrome-c oxidase activity  (ISO)
positive regulation of epithelial cell proliferation  (ISO)
positive regulation of lamellipodium assembly  (ISO)
positive regulation of melanin biosynthetic process  (IMP)
positive regulation of response to wounding  (ISO)
positive regulation of superoxide dismutase activity  (ISO)
positive regulation of vascular associated smooth muscle cell migration  (ISO)
pyramidal neuron development  (IEA,ISS)
regulation of cytochrome-c oxidase activity  (ISO)
regulation of gene expression  (IEA)
regulation of oxidative phosphorylation  (IEA,ISS)
release of cytochrome c from mitochondria  (IEA)
removal of superoxide radicals  (IEA,ISS)
response to copper ion  (ISO)
response to iron(III) ion  (ISO)
response to lead ion  (ISO)
response to manganese ion  (ISO)
response to zinc ion  (ISO)
serotonin metabolic process  (IEA,ISS)
skin development  (IEA,ISS)
T-helper cell differentiation  (IEA,ISS)
transmembrane transport  (IEA)
tyrosine metabolic process  (IEA)

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

Human Phenotype
Abdominal distention  (IAGP)
Abdominal pain  (IAGP)
Abnormal carotid artery morphology  (IAGP)
Abnormal esophagus physiology  (IAGP)
Abnormal fibula morphology  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormal palate morphology  (IAGP)
Abnormal peripheral nervous system morphology  (IAGP)
Abnormal pubic bone morphology  (IAGP)
Abnormal skull morphology  (IAGP)
Abnormality of the face  (IAGP)
Abnormality of the sense of smell  (IAGP)
Abnormality of the wrist  (IAGP)
Absent tibia  (IAGP)
Aganglionic megacolon  (IAGP)
Alopecia  (IAGP)
Aplasia/Hypoplasia of the abdominal wall musculature  (IAGP)
Aplasia/hypoplasia of the humerus  (IAGP)
Aplastic clavicle  (IAGP)
Arterial stenosis  (IAGP)
Atypical behavior  (IAGP)
Atypical scarring of skin  (IAGP)
Autism  (IAGP)
Avascular necrosis of the capital femoral epiphysis  (IAGP)
Babinski sign  (IAGP)
Bilious emesis  (IAGP)
Bladder carcinoma  (IAGP)
Bladder diverticulum  (IAGP)
Bowing of the long bones  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Brittle hair  (IAGP)
Broad clavicles  (IAGP)
Broad ribs  (IAGP)
Bruising susceptibility  (IAGP)
Capitate-hamate fusion  (IAGP)
Carotid artery tortuosity  (IAGP)
Cerebral calcification  (IAGP)
Cholestasis  (IAGP)
Chondrocalcinosis  (IAGP)
Chorea  (IAGP)
Chronic diarrhea  (IAGP)
Coarse hair  (IAGP)
Colon perforation  (IAGP)
Constipation  (IAGP)
Convex nasal ridge  (IAGP)
Coxa valga  (IAGP)
Coxa vara  (IAGP)
Cutis laxa  (IAGP)
Death in childhood  (IAGP)
Decreased circulating ceruloplasmin concentration  (IAGP)
Decreased circulating copper concentration  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed passage of meconium  (IAGP)
Developmental regression  (IAGP)
Diarrhea  (IAGP)
Distal amyotrophy  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Down-sloping shoulders  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dry skin  (IAGP)
Dysphagia  (IAGP)
EMG: neuropathic changes  (IAGP)
Enterocolitis  (IAGP)
Epileptic spasm  (IAGP)
Esophagitis  (IAGP)
Exostoses  (IAGP)
Failure to thrive in infancy  (IAGP)
Fatigue  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Femoral hernia  (IAGP)
Full cheeks  (IAGP)
Functional abnormality of the gastrointestinal tract  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Gastroparesis  (IAGP)
Genu valgum  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hepatitis  (IAGP)
Hernia  (IAGP)
Hiatus hernia  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hip dislocation  (IAGP)
Hip dysplasia  (IAGP)
Humerus varus  (IAGP)
Hydronephrosis  (IAGP)
Hyperextensible skin  (IAGP)
Hypertonia  (IAGP)
Hypoglycemia  (IAGP)
Hypopigmentation of hair  (IAGP)
Hypopigmentation of the skin  (IAGP)
Hyporeflexia  (IAGP)
Hypothermia  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Infantile onset  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intestinal obstruction  (IAGP)
Intracranial hemorrhage  (IAGP)
Intrauterine growth retardation  (IAGP)
Jaundice  (IAGP)
Joint hypermobility  (IAGP)
Juvenile onset  (IAGP)
Keloids  (IAGP)
Kyphosis  (IAGP)
Large fontanelles  (IAGP)
Large iliac wing  (IAGP)
Limited elbow extension  (IAGP)
Limited knee extension  (IAGP)
Long face  (IAGP)
Long neck  (IAGP)
Long philtrum  (IAGP)
Malabsorption  (IAGP)
Mask-like facies  (IAGP)
Metaphyseal spurs  (IAGP)
Metaphyseal widening  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Muscle weakness  (IAGP)
Narrow chest  (IAGP)
Narrow face  (IAGP)
Nausea and vomiting  (IAGP)
Orthostatic hypotension  (IAGP)
Osteolysis  (IAGP)
Osteomalacia  (IAGP)
Osteomyelitis  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Pelvic bone exostoses  (IAGP)
Persistent open anterior fontanelle  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Pili torti  (IAGP)
Platyspondyly  (IAGP)
Polyhydramnios  (IAGP)
Poor head control  (IAGP)
Poor suck  (IAGP)
Prolonged neonatal jaundice  (IAGP)
Prominent occiput  (IAGP)
Recurrent fractures  (IAGP)
Recurrent urinary tract infections  (IAGP)
Redundant skin  (IAGP)
Rickets  (IAGP)
Scarring  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sepsis  (IAGP)
Short clavicles  (IAGP)
Short humerus  (IAGP)
Short palm  (IAGP)
Short stature  (IAGP)
Slowly progressive  (IAGP)
Soft skin  (IAGP)
Sparse hair  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Spinal muscular atrophy  (IAGP)
Spontaneous hematomas  (IAGP)
Synostosis of joints  (IAGP)
Tarsal synostosis  (IAGP)
Thick hair  (IAGP)
Thickened skin  (IAGP)
Umbilical hernia  (IAGP)
Unsteady gait  (IAGP)
Ureteral obstruction  (IAGP)
Vascular dilatation  (IAGP)
Venous insufficiency  (IAGP)
Weight loss  (IAGP)
Woolly hair  (IAGP)
Wormian bones  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Changes in copper metabolism in different compartments of the brain in rats with induced fibrillogenesis. Babich PS, etal., Bull Exp Biol Med. 2009 Aug;148(2):217-22.
2. Identification of differentially expressed genes in response to dietary iron deprivation in rat duodenum. Collins JF, etal., Am J Physiol Gastrointest Liver Physiol. 2005 May;288(5):G964-71. Epub 2005 Jan 6.
3. Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Das S, etal., Am J Hum Genet. 1995 Mar;56(3):570-6.
4. Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease. Desai V, etal., Clin Genet. 2011 Feb;79(2):176-82. doi: 10.1111/j.1399-0004.2010.01451.x.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease. Grimes A, etal., Hum Mol Genet. 1997 Jul;6(7):1037-42.
7. Investigation of iron metabolism in mice expressing a mutant Menke's copper transporting ATPase (Atp7a) protein with diminished activity (Brindled; Mo (Br) (/y) ). Gulec S and Collins JF, PLoS One. 2013 Jun 11;8(6):e66010. doi: 10.1371/journal.pone.0066010. Print 2013.
8. Loss of divalent metal transporter 1 (DMT1) function promotes brain copper accumulation and increases impulsivity. Han M, etal., J Neurochem. 2016 Jun 22. doi: 10.1111/jnc.13717.
9. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Kaler SG, etal., Nat Genet. 1994 Oct;8(2):195-202.
10. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Kennerson ML, etal., Am J Hum Genet. 2010 Mar 12;86(3):343-52. doi: 10.1016/j.ajhg.2010.01.027. Epub 2010 Feb 18.
11. Exon duplications in the ATP7A gene: frequency and transcriptional behaviour. Mogensen M, etal., Orphanet J Rare Dis. 2011 Nov 10;6:73. doi: 10.1186/1750-1172-6-73.
12. Twenty-five novel mutations including duplications in the ATP7A gene. Moizard MP, etal., Clin Genet. 2011 Mar;79(3):243-53. doi: 10.1111/j.1399-0004.2010.01461.x.
13. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. Moller LB, etal., Am J Hum Genet 2000 Apr;66(4):1211-20. Epub 2000 Mar 17.
14. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
15. Characterizing the molecular phenotype of an Atp7aT985I conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX). Perez-Siles G, etal., Metallomics. 2016 Jun 13.
16. Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome. Qi M and Byers PH, Hum Mol Genet. 1998 Mar;7(3):465-9.
17. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
19. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
20. Subcellular targets of cisplatin cytotoxicity: an integrated view. Sancho-Martinez SM, etal., Pharmacol Ther. 2012 Oct;136(1):35-55. doi: 10.1016/j.pharmthera.2012.07.003. Epub 2012 Jul 14.
21. Disruption of copper-dependent signaling pathway in the nitrofen-induced congenital diaphragmatic hernia. Takahashi T, etal., Pediatr Surg Int. 2015 Jan;31(1):31-5. doi: 10.1007/s00383-014-3620-9. Epub 2014 Oct 16.
22. Diabetic cardiomyopathy is associated with defective myocellular copper regulation and both defects are rectified by divalent copper chelation. Zhang S, etal., Cardiovasc Diabetol. 2014 Jun 14;13:100. doi: 10.1186/1475-2840-13-100.
Additional References at PubMed
PMID:7490081   PMID:7607665   PMID:7977350   PMID:8490646   PMID:8490647   PMID:8490659   PMID:8526465   PMID:8812725   PMID:8923001   PMID:8943055   PMID:8947031   PMID:8981948  
PMID:9147644   PMID:9246006   PMID:9437429   PMID:9668166   PMID:9693104   PMID:9817923   PMID:10079814   PMID:10079817   PMID:10319589   PMID:10401004   PMID:10419525   PMID:10484781  
PMID:10497213   PMID:10557326   PMID:10567439   PMID:10970802   PMID:11040994   PMID:11092760   PMID:11214319   PMID:11241493   PMID:11350187   PMID:11431706   PMID:11936860   PMID:12221109  
PMID:12393797   PMID:12485191   PMID:12485192   PMID:12539960   PMID:12539963   PMID:12565888   PMID:12676902   PMID:12679332   PMID:12812980   PMID:14572476   PMID:14635105   PMID:14644159  
PMID:14702039   PMID:14977365   PMID:14985388   PMID:15035611   PMID:15071553   PMID:15135234   PMID:15342556   PMID:15372525   PMID:15670166   PMID:15772651   PMID:15981243   PMID:16051599  
PMID:16083905   PMID:16172131   PMID:16211579   PMID:16317117   PMID:16344560   PMID:16371425   PMID:16397091   PMID:16826513   PMID:16873374   PMID:16884690   PMID:17003121   PMID:17108763  
PMID:17109627   PMID:17158254   PMID:17178205   PMID:17496194   PMID:17531189   PMID:17545667   PMID:17562324   PMID:17717039   PMID:17987894   PMID:17989919   PMID:18030470   PMID:18272047  
PMID:18515074   PMID:18565219   PMID:18650808   PMID:18688737   PMID:18752978   PMID:19046832   PMID:19127267   PMID:19153371   PMID:19194885   PMID:19453293   PMID:19645496   PMID:19679821  
PMID:19917612   PMID:19946888   PMID:20045993   PMID:20301532   PMID:20301586   PMID:20566629   PMID:20671235   PMID:20714486   PMID:21115196   PMID:21117320   PMID:21221114   PMID:21242307  
PMID:21494555   PMID:21646353   PMID:21667063   PMID:21716286   PMID:21873635   PMID:22130675   PMID:22210628   PMID:22304828   PMID:22710939   PMID:22939629   PMID:22992316   PMID:23281160  
PMID:23345593   PMID:23563491   PMID:23596324   PMID:23751120   PMID:23963605   PMID:24002164   PMID:24100245   PMID:24150977   PMID:24403508   PMID:24614111   PMID:24735419   PMID:24754450  
PMID:24882692   PMID:24919650   PMID:24927440   PMID:25172213   PMID:25355947   PMID:25574028   PMID:25921289   PMID:26186194   PMID:26199316   PMID:26437801   PMID:26496610   PMID:26638075  
PMID:26879543   PMID:27112899   PMID:27226607   PMID:27307295   PMID:27462781   PMID:27806319   PMID:27896900   PMID:28164426   PMID:28178522   PMID:28271598   PMID:28355134   PMID:28389643  
PMID:28397223   PMID:28451781   PMID:28514442   PMID:28737129   PMID:29394468   PMID:29507755   PMID:29568061   PMID:29579719   PMID:30021884   PMID:30230404   PMID:30442766   PMID:30530920  
PMID:30809870   PMID:30842251   PMID:31283225   PMID:31541095   PMID:31871319   PMID:31932435   PMID:31959876   PMID:32293788   PMID:32994893   PMID:33359139   PMID:33565059   PMID:33726789  
PMID:33957083   PMID:33961781   PMID:34035268   PMID:34079125   PMID:34273398   PMID:34369648   PMID:34432599   PMID:34461106   PMID:34597346   PMID:34709727   PMID:34747666   PMID:35337019  
PMID:35844135   PMID:35907138   PMID:36610398   PMID:36692329   PMID:36897256   PMID:36976175   PMID:37212000   PMID:37885090   PMID:38032054   PMID:38117590   PMID:38141875   PMID:38569033  
PMID:39231216   PMID:40437099  


Genomics

Comparative Map Data
ATP7A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X77,910,693 - 78,050,395 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX77,910,690 - 78,050,395 (+)Ensemblhg38GRCh38
GRCh37X77,166,190 - 77,305,892 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X77,052,876 - 77,192,208 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34X76,972,343 - 77,111,584NCBI
CeleraX77,407,059 - 77,546,975 (+)NCBICelera
Cytogenetic MapXq21.1NCBI
HuRefX70,752,187 - 70,892,316 (+)NCBIHuRef
CHM1_1X77,058,882 - 77,198,586 (+)NCBICHM1_1
T2T-CHM13v2.0X76,345,749 - 76,485,475 (+)NCBIT2T-CHM13v2.0
Atp7a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X105,070,830 - 105,171,766 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX105,070,882 - 105,168,532 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm38X106,027,224 - 106,128,161 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX106,027,276 - 106,124,926 (+)Ensemblmm10GRCm38
MGSCv37X103,222,615 - 103,323,499 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36X102,230,036 - 102,327,636 (+)NCBIMGSCv36mm8
CeleraX92,880,992 - 92,982,185 (+)NCBICelera
Cytogenetic MapXDNCBI
cM MapX47.36NCBI
Atp7a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X75,159,635 - 75,267,094 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 EnsemblX75,159,782 - 75,267,093 (+)EnsemblGRCr8
mRatBN7.2X71,094,144 - 71,201,550 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX71,094,202 - 71,198,354 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_UtxX72,646,905 - 72,707,290 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X76,147,215 - 76,207,599 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X73,710,399 - 73,770,782 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X77,076,085 - 77,193,644 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX77,076,106 - 77,193,644 (+)Ensemblrn6Rnor6.0
Rnor_5.0X56,198,947 - 56,313,382 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4X94,192,540 - 94,249,776 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
CeleraX72,450,404 - 72,510,070 (+)NCBICelera
RGSC_v3.1X94,265,972 - 94,323,206 (+)NCBI
Cytogenetic MapXq22NCBI
Atp7a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555571,355,397 - 1,515,393 (+)Ensembl
ChiLan1.0NW_0049555571,355,471 - 1,515,725 (+)NCBIChiLan1.0ChiLan1.0
ATP7A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X77,492,788 - 77,630,493 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X77,496,415 - 77,634,104 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X67,093,675 - 67,231,318 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X77,205,579 - 77,342,762 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX77,255,312 - 77,342,756 (+)EnsemblpanPan2panpan1.1
ATP7A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X60,203,336 - 60,356,525 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX60,203,270 - 60,352,869 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_TashaX51,216,457 - 51,369,626 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0X61,442,067 - 61,595,242 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX61,442,069 - 61,592,549 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X59,148,063 - 59,301,397 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X60,758,474 - 60,911,162 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X60,346,304 - 60,499,464 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Atp7a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X42,009,558 - 42,154,264 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366832,874,042 - 2,935,040 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049366832,874,022 - 2,936,214 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP7A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX61,972,991 - 62,110,048 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1X61,972,544 - 62,110,058 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X70,891,299 - 71,026,996 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ATP7A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X66,843,519 - 66,985,655 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX66,843,558 - 66,985,709 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366606714,518,402 - 14,662,927 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atp7a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248362,808,681 - 2,993,452 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248362,804,349 - 3,058,125 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in ATP7A
1913 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000052.7(ATP7A):c.121-2del deletion Inborn genetic diseases [RCV002358415]|Menkes kinky-hair syndrome [RCV001085185]|not provided [RCV000521995] ChrX:77988237 [GRCh38]
ChrX:77243733 [GRCh37]
ChrX:Xq21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV000550411]|Menkes kinky-hair syndrome [RCV001834780]|not provided [RCV001547294] ChrX:78033785 [GRCh38]
ChrX:77289283 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) single nucleotide variant Inborn genetic diseases [RCV002316550]|Menkes kinky-hair syndrome [RCV001082178]|Menkes kinky-hair syndrome [RCV001834781]|not provided [RCV000659170]|not specified [RCV000615561] ChrX:78046456 [GRCh38]
ChrX:77301953 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val) single nucleotide variant Inborn genetic diseases [RCV002431615]|Menkes kinky-hair syndrome [RCV000555196]|not provided [RCV001508049] ChrX:78015774 [GRCh38]
ChrX:77271271 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.1270C>T (p.Leu424=) single nucleotide variant Menkes kinky-hair syndrome [RCV000557829] ChrX:77989892 [GRCh38]
ChrX:77245388 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3028_3030delinsGTG (p.Thr1010Val) indel Menkes kinky-hair syndrome [RCV000560260] ChrX:78029361..78029363 [GRCh38]
ChrX:77284858..77284860 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.686T>C (p.Ile229Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV002527625]|not provided [RCV000519411] ChrX:77989308 [GRCh38]
ChrX:77244804 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2490C>T (p.Ile830=) single nucleotide variant Menkes kinky-hair syndrome [RCV000542597] ChrX:78014745 [GRCh38]
ChrX:77270242 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3111+1G>A single nucleotide variant Menkes kinky-hair syndrome [RCV000552537]|Menkes kinky-hair syndrome [RCV005208712] ChrX:78029445 [GRCh38]
ChrX:77284942 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2208T>C (p.Tyr736=) single nucleotide variant Menkes kinky-hair syndrome [RCV000553859] ChrX:78012914 [GRCh38]
ChrX:77268411 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3013G>A (p.Gly1005Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003311883]|not provided [RCV000728162] ChrX:78029346 [GRCh38]
ChrX:77284843 [GRCh37]
ChrX:Xq21.1		 likely pathogenic|uncertain significance
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys) single nucleotide variant Menkes kinky-hair syndrome [RCV000640897]|Menkes kinky-hair syndrome [RCV001835032] ChrX:78046311 [GRCh38]
ChrX:77301808 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3094T>C (p.Leu1032=) single nucleotide variant Menkes kinky-hair syndrome [RCV000640900] ChrX:78029427 [GRCh38]
ChrX:77284924 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2172+7G>T single nucleotide variant Menkes kinky-hair syndrome [RCV000640903] ChrX:78011681 [GRCh38]
ChrX:77267178 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys) single nucleotide variant Menkes kinky-hair syndrome [RCV000546268]|not provided [RCV004808762] ChrX:78015836 [GRCh38]
ChrX:77271333 [GRCh37]
ChrX:Xq21.1		 likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
NM_000052.7(ATP7A):c.4123+3A>T single nucleotide variant Menkes disease, mild [RCV000012547]|Menkes kinky-hair syndrome [RCV003311656] ChrX:78043437 [GRCh38]
ChrX:77298935 [GRCh37]
ChrX:Xq21.1		 pathogenic|uncertain significance
NM_000052.7(ATP7A):c.2497A>G (p.Ser833Gly) single nucleotide variant Cutis laxa, X-linked [RCV000012548] ChrX:78014752 [GRCh38]
ChrX:77270249 [GRCh37]
ChrX:Xq21.1		 pathogenic|conflicting interpretations of pathogenicity
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu) single nucleotide variant Cutis laxa, X-linked [RCV000012549]|Menkes kinky-hair syndrome [RCV000195239] ChrX:78011216 [GRCh38]
ChrX:77266713 [GRCh37]
ChrX:Xq21.1		 pathogenic|likely pathogenic
ATP7A, 8-BP DEL, NT1552 deletion Cutis laxa, X-linked [RCV000012550] ChrX:Xq12-q13 pathogenic
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000012551]|Menkes kinky-hair syndrome [RCV001851805] ChrX:78029271 [GRCh38]
ChrX:77284768 [GRCh37]
ChrX:Xq21.1		 pathogenic
ATP7A, IVS6DS, T-A, +6 single nucleotide variant Cutis laxa, X-linked [RCV000012552] ChrX:Xq12-q13 pathogenic
NM_000052.7(ATP7A):c.1707+1G>A single nucleotide variant Menkes kinky-hair syndrome [RCV000012553] ChrX:78003237 [GRCh38]
ChrX:77258734 [GRCh37]
ChrX:Xq21.1		 pathogenic|conflicting interpretations of pathogenicity
NM_000052.7(ATP7A):c.4352del (p.Gly1451fs) deletion Cutis laxa, X-linked [RCV000012554] ChrX:78046417 [GRCh38]
ChrX:77301914 [GRCh37]
ChrX:Xq21.1		 pathogenic|conflicting interpretations of pathogenicity
NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV000012555] ChrX:78029389 [GRCh38]
ChrX:77284886 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1947-3_1948dup duplication Menkes disease, copper-replacement responsive [RCV000012556]|Menkes kinky-hair syndrome [RCV003311657] ChrX:78011443..78011444 [GRCh38]
ChrX:77266940..77266941 [GRCh37]
ChrX:Xq21.1		 pathogenic|uncertain significance
NM_000052.7(ATP7A):c.408_415del (p.Asn137fs) deletion Menkes kinky-hair syndrome [RCV000012557] ChrX:77988529..77988536 [GRCh38]
ChrX:77244025..77244032 [GRCh37]
ChrX:Xq21.1		 pathogenic|conflicting interpretations of pathogenicity
NG_013224.2:g.(66066_82545)_(84263_92781)del deletion Menkes kinky-hair syndrome [RCV000012558] ChrX:Xq12-q13 pathogenic
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser) single nucleotide variant Cutis laxa, X-linked [RCV000012559]|Menkes kinky-hair syndrome [RCV000194377]|not provided [RCV003238723] ChrX:78042694 [GRCh38]
ChrX:77298192 [GRCh37]
ChrX:Xq21.1		 pathogenic|conflicting interpretations of pathogenicity
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000012560]|Menkes kinky-hair syndrome [RCV001231166]|not provided [RCV000725792] ChrX:77988722 [GRCh38]
ChrX:77244218 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789727]|Menkes kinky-hair syndrome [RCV001696175]|X-linked distal spinal muscular atrophy type 3 [RCV000012561] ChrX:78029314 [GRCh38]
ChrX:77284811 [GRCh37]
ChrX:Xq21.1		 pathogenic|uncertain significance|not provided
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789728]|Menkes kinky-hair syndrome [RCV001206423]|Menkes kinky-hair syndrome [RCV001696176]|X-linked distal spinal muscular atrophy type 3 [RCV000012562] ChrX:78045502 [GRCh38]
ChrX:77300999 [GRCh37]
ChrX:Xq21.1		 pathogenic|uncertain significance|not provided
NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV001834711]|Menkes kinky-hair syndrome [RCV002527654]|not provided [RCV000520631] ChrX:77989662 [GRCh38]
ChrX:77245158 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1(chrX:77784830-78691660)x2 copy number gain See cases [RCV000050671] ChrX:77784830..78691660 [GRCh38]
ChrX:77040316..77947157 [GRCh37]
ChrX:76926972..77833813 [NCBI36]
ChrX:Xq21.1		 pathogenic
GRCh38/hg38 Xq21.1(chrX:77914709-78039013)x0 copy number loss See cases [RCV000050584] ChrX:77914709..78039013 [GRCh38]
ChrX:77226910..77294511 [GRCh37]
ChrX:77056862..77181167 [NCBI36]
ChrX:Xq21.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1(chrX:77829855-78514258)x3 copy number gain See cases [RCV000054212] ChrX:77829855..78514258 [GRCh38]
ChrX:77085352..77769755 [GRCh37]
ChrX:76972008..77656411 [NCBI36]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) single nucleotide variant Cutis laxa, X-linked [RCV001554147]|Inborn genetic diseases [RCV002311546]|Menkes kinky-hair syndrome [RCV000990880]|Menkes kinky-hair syndrome [RCV001274024]|X-linked distal spinal muscular atrophy type 3 [RCV001554148]|not provided [RCV001811355]|not specified [RCV000078034] ChrX:78013005 [GRCh38]
ChrX:77268502 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.1205del (p.Lys402fs) deletion not provided [RCV000078031] ChrX:77989822 [GRCh38]
ChrX:77245318 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1588G>A (p.Val530Ile) single nucleotide variant not provided [RCV000078032] ChrX:78003117 [GRCh38]
ChrX:77258614 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) single nucleotide variant Ehlers-Danlos syndrome [RCV002277140]|Inborn genetic diseases [RCV002313747]|Menkes kinky-hair syndrome [RCV000640913]|not specified [RCV000078033] ChrX:78009217 [GRCh38]
ChrX:77264714 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.3802-1G>T single nucleotide variant not provided [RCV000078035] ChrX:78042584 [GRCh38]
ChrX:77298082 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) single nucleotide variant Cutis laxa, X-linked [RCV001554196]|Inborn genetic diseases [RCV002311547]|Menkes kinky-hair syndrome [RCV000990884]|Menkes kinky-hair syndrome [RCV001514284]|X-linked distal spinal muscular atrophy type 3 [RCV001554197]|not provided [RCV001610349]|not specified [RCV000078036] ChrX:78043359 [GRCh38]
ChrX:77298857 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.610+8G>A single nucleotide variant ATP7A-related disorder [RCV003944992]|Menkes kinky-hair syndrome [RCV000559386]|not provided [RCV001573877]|not specified [RCV000078037] ChrX:77988739 [GRCh38]
ChrX:77244235 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.392C>G (p.Pro131Arg) single nucleotide variant not provided [RCV003223859] ChrX:77988513 [GRCh38]
ChrX:77244009 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.616C>T (p.Leu206=) single nucleotide variant Menkes kinky-hair syndrome [RCV003104317] ChrX:77989238 [GRCh38]
ChrX:77244734 [GRCh37]
ChrX:Xq21.1		 likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_000052.7(ATP7A):c.556A>G (p.Thr186Ala) single nucleotide variant Inborn genetic diseases [RCV002343922]|Menkes kinky-hair syndrome [RCV001907849] ChrX:77988677 [GRCh38]
ChrX:77244173 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1907G>A (p.Arg636Gln) single nucleotide variant Inborn genetic diseases [RCV002407069]|Menkes kinky-hair syndrome [RCV001944995] ChrX:78011213 [GRCh38]
ChrX:77266710 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
Single allele deletion Spinocerebellar ataxia, X-linked [RCV000190540] ChrX:77190006..77231471 [GRCh37]
ChrX:Xq21.1		 protective
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV001835901]|Menkes kinky-hair syndrome [RCV002534270]|not provided [RCV000658090] ChrX:78029257 [GRCh38]
ChrX:77284754 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV001829823]|Menkes kinky-hair syndrome [RCV002536328]|not provided [RCV000658425] ChrX:77998516 [GRCh38]
ChrX:77254013 [GRCh37]
ChrX:Xq21.1		 benign|uncertain significance
NM_000052.7(ATP7A):c.1873T>C (p.Leu625=) single nucleotide variant Menkes kinky-hair syndrome [RCV002089067] ChrX:78011179 [GRCh38]
ChrX:77266676 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3111+6A>G single nucleotide variant Menkes kinky-hair syndrome [RCV001302757] ChrX:78029450 [GRCh38]
ChrX:77284947 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2182G>C (p.Gly728Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV001047287] ChrX:78012888 [GRCh38]
ChrX:77268385 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_000052.7(ATP7A):c.3071T>A (p.Ile1024Lys) single nucleotide variant not provided [RCV000174825] ChrX:78029404 [GRCh38]
ChrX:77284901 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NG_013224.2:g.(?_4960)_(103567_105489)dup duplication Menkes kinky-hair syndrome [RCV000128526] ChrX:77910656..78009263 [GRCh38]
ChrX:Xq21.1		 likely benign
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1(chrX:77768771-77928775)x3 copy number gain See cases [RCV000133698] ChrX:77768771..77928775 [GRCh38]
ChrX:77024252..77130133 [GRCh37]
ChrX:76910908..77070928 [NCBI36]
ChrX:Xq21.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xq21.1(chrX:77902592-78039013)x1 copy number loss See cases [RCV000135643] ChrX:77902592..78039013 [GRCh38]
ChrX:77044745..77181167 [NCBI36]
ChrX:Xq21.1		 uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1		 pathogenic|likely benign
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3		 pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3		 pathogenic
GRCh38/hg38 Xq21.1(chrX:77784830-77925954)x2 copy number gain See cases [RCV000138273] ChrX:77784830..77925954 [GRCh38]
ChrX:77040316..77130133 [GRCh37]
ChrX:76926972..77068107 [NCBI36]
ChrX:Xq21.1		 uncertain significance
GRCh38/hg38 Xq21.1(chrX:77784830-77925954)x3 copy number gain See cases [RCV000138275] ChrX:77784830..77925954 [GRCh38]
ChrX:77040316..77181451 [GRCh37]
ChrX:76926972..77068107 [NCBI36]
ChrX:Xq21.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1(chrX:77995123-78039221)x0 copy number loss See cases [RCV000139592] ChrX:77995123..78039221 [GRCh38]
ChrX:77250619..77294719 [GRCh37]
ChrX:77137275..77181375 [NCBI36]
ChrX:Xq21.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1(chrX:77896695-77914768)x3 copy number gain See cases [RCV000140842] ChrX:77896695..77914768 [GRCh38]
ChrX:77038848..77056921 [NCBI36]
ChrX:Xq21.1		 conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24		 pathogenic
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1		 pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24		 pathogenic
GRCh38/hg38 Xq21.1(chrX:78031438-79093211)x3 copy number gain See cases [RCV000143042] ChrX:78031438..79093211 [GRCh38]
ChrX:77286936..78348708 [GRCh37]
ChrX:77173592..78235364 [NCBI36]
ChrX:Xq21.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) single nucleotide variant ATP7A-related disorder [RCV003927477]|Ehlers-Danlos syndrome [RCV002277300]|Inborn genetic diseases [RCV002316960]|Menkes kinky-hair syndrome [RCV000532853]|not specified [RCV000152813] ChrX:78046457 [GRCh38]
ChrX:77301954 [GRCh37]
ChrX:Xq21.1		 benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_000052.7(ATP7A):c.3970G>A (p.Val1324Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV001852165]|not provided [RCV000176021] ChrX:78042753 [GRCh38]
ChrX:77298251 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4226+11T>C single nucleotide variant Inborn genetic diseases [RCV002327024]|Menkes kinky-hair syndrome [RCV002054254]|not provided [RCV004703459]|not specified [RCV000192671] ChrX:78045583 [GRCh38]
ChrX:77301080 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) single nucleotide variant History of neurodevelopmental disorder [RCV000721073]|Menkes kinky-hair syndrome [RCV001086885]|Menkes kinky-hair syndrome [RCV001274233]|not provided [RCV000724715]|not specified [RCV000193566] ChrX:78011572 [GRCh38]
ChrX:77267069 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.1947-1G>A single nucleotide variant Menkes kinky-hair syndrome [RCV000184052] ChrX:78011448 [GRCh38]
ChrX:77266945 [GRCh37]
ChrX:Xq21.1		 pathogenic|likely pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000052.7(ATP7A):c.1299A>T (p.Gly433=) single nucleotide variant not specified [RCV000192493] ChrX:77989921 [GRCh38]
ChrX:77245417 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2006T>C (p.Ile669Thr) single nucleotide variant not specified [RCV000192530] ChrX:78011508 [GRCh38]
ChrX:77267005 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.3943G>A (p.Gly1315Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV000192535] ChrX:78042726 [GRCh38]
ChrX:77298224 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3124del (p.Val1042fs) deletion Menkes kinky-hair syndrome [RCV000192548] ChrX:78031411 [GRCh38]
ChrX:77286909 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2357T>G (p.Met786Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV000192663] ChrX:78013063 [GRCh38]
ChrX:77268560 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3379G>T (p.Glu1127Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000192748] ChrX:78033689 [GRCh38]
ChrX:77289187 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1667_1668del (p.Ile556fs) deletion Menkes kinky-hair syndrome [RCV000192761] ChrX:78003195..78003196 [GRCh38]
ChrX:77258692..77258693 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2645dup (p.Ala882_Lys883insTer) duplication Menkes kinky-hair syndrome [RCV000192771] ChrX:78020261..78020262 [GRCh38]
ChrX:77275758..77275759 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3502C>T (p.Gln1168Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000192813] ChrX:78033812 [GRCh38]
ChrX:77289310 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000192830]|not provided [RCV003488446] ChrX:78009176 [GRCh38]
ChrX:77264673 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) single nucleotide variant ATP7A-related disorder [RCV003907676]|Ehlers-Danlos syndrome [RCV002277450]|Inborn genetic diseases [RCV002433862]|Menkes kinky-hair syndrome [RCV000192884]|Menkes kinky-hair syndrome [RCV001085085]|not provided [RCV000757015]|not specified [RCV000999938] ChrX:78021066 [GRCh38]
ChrX:77276563 [GRCh37]
ChrX:Xq21.1		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.4132dup (p.Met1378fs) duplication Menkes kinky-hair syndrome [RCV000192966] ChrX:78045477..78045478 [GRCh38]
ChrX:77300974..77300975 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2173-2A>G single nucleotide variant Menkes kinky-hair syndrome [RCV000192993] ChrX:78012877 [GRCh38]
ChrX:77268374 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2160T>A (p.Cys720Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000193010] ChrX:78011662 [GRCh38]
ChrX:77267159 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) single nucleotide variant Ehlers-Danlos syndrome [RCV002277449]|Inborn genetic diseases [RCV002314787]|Menkes kinky-hair syndrome [RCV000534012]|Menkes kinky-hair syndrome [RCV001274230]|not provided [RCV001573423]|not specified [RCV000193020] ChrX:77998657 [GRCh38]
ChrX:77254154 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV000193058] ChrX:78012889 [GRCh38]
ChrX:77268386 [GRCh37]
ChrX:Xq21.1		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000052.7(ATP7A):c.3127_3131delinsAGTACAGG (p.Phe1043_Asp1044delinsSerThrGly) indel Menkes kinky-hair syndrome [RCV000193069] ChrX:78031415..78031419 [GRCh38]
ChrX:77286913..77286917 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3069_3083del (p.Ile1024_Gly1028del) deletion Menkes kinky-hair syndrome [RCV000193101] ChrX:78029400..78029414 [GRCh38]
ChrX:77284897..77284911 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.-54T>C single nucleotide variant not specified [RCV000193109] ChrX:77910803 [GRCh38]
ChrX:77166300 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) single nucleotide variant Ehlers-Danlos syndrome [RCV002277452]|Inborn genetic diseases [RCV002314788]|Menkes kinky-hair syndrome [RCV000546821]|not provided [RCV001572994]|not specified [RCV000193172] ChrX:77988686 [GRCh38]
ChrX:77244182 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000193177]|Menkes kinky-hair syndrome [RCV002517056] ChrX:78011180 [GRCh38]
ChrX:77266677 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000193235]|Menkes kinky-hair syndrome [RCV001271473]|not provided [RCV000757017] ChrX:78011239 [GRCh38]
ChrX:77266736 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3775_3776delinsTTAC (p.Lys1259fs) indel Menkes kinky-hair syndrome [RCV000193268] ChrX:78040707..78040708 [GRCh38]
ChrX:77296205..77296206 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000193280]|Menkes kinky-hair syndrome [RCV001274025]|not provided [RCV000578755] ChrX:78013089 [GRCh38]
ChrX:77268586 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.876del (p.Ser293fs) deletion Menkes kinky-hair syndrome [RCV000193287] ChrX:77989498 [GRCh38]
ChrX:77244994 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000193405]|Menkes kinky-hair syndrome [RCV002517917]|not provided [RCV003231369] ChrX:78029289 [GRCh38]
ChrX:77284786 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1020_1024dup (p.Leu342fs) duplication Menkes kinky-hair syndrome [RCV000193458] ChrX:77989640..77989641 [GRCh38]
ChrX:77245136..77245137 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3920del (p.Pro1307fs) deletion Menkes kinky-hair syndrome [RCV000193484] ChrX:78042700 [GRCh38]
ChrX:77298198 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1996G>A (p.Gly666Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV000193497] ChrX:78011498 [GRCh38]
ChrX:77266995 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3285T>G (p.Tyr1095Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000193509] ChrX:78031573 [GRCh38]
ChrX:77287071 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1355del (p.Val452fs) deletion Menkes kinky-hair syndrome [RCV000193526] ChrX:77998496 [GRCh38]
ChrX:77253993 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3340del (p.Val1114fs) deletion Menkes kinky-hair syndrome [RCV000193615] ChrX:78033650 [GRCh38]
ChrX:77289148 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1544-1G>A single nucleotide variant Menkes kinky-hair syndrome [RCV000193686]|Menkes kinky-hair syndrome [RCV005213231] ChrX:78003072 [GRCh38]
ChrX:77258569 [GRCh37]
ChrX:Xq21.1		 pathogenic|likely pathogenic
NM_000052.7(ATP7A):c.2499-1G>A single nucleotide variant Menkes kinky-hair syndrome [RCV000193736] ChrX:78015753 [GRCh38]
ChrX:77271250 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) single nucleotide variant ATP7A-related disorder [RCV003927766]|Inborn genetic diseases [RCV002311288]|Menkes kinky-hair syndrome [RCV000640905]|not provided [RCV001697268]|not specified [RCV000193760] ChrX:78014707 [GRCh38]
ChrX:77270204 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|uncertain significance
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) single nucleotide variant ATP7A-related disorder [RCV003947597]|Menkes kinky-hair syndrome [RCV001084897]|not provided [RCV000841465]|not specified [RCV000193779] ChrX:78033759 [GRCh38]
ChrX:77289257 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.2750T>A (p.Val917Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV000193806] ChrX:78020367 [GRCh38]
ChrX:77275864 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3764G>A (p.Gly1255Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV000193824] ChrX:78040696 [GRCh38]
ChrX:77296194 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3532T>C (p.Tyr1178His) single nucleotide variant not specified [RCV000193852] ChrX:78038856 [GRCh38]
ChrX:77294354 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.1831G>T (p.Glu611Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000193862] ChrX:78009225 [GRCh38]
ChrX:77264722 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) single nucleotide variant Inborn genetic diseases [RCV002517916]|Menkes kinky-hair syndrome [RCV000193991]|Menkes kinky-hair syndrome [RCV001857689]|not provided [RCV003227709] ChrX:78012885 [GRCh38]
ChrX:77268382 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.4187C>T (p.Ser1396Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV000194001] ChrX:78045533 [GRCh38]
ChrX:77301030 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV000194077]|Menkes kinky-hair syndrome [RCV000543168] ChrX:78029335 [GRCh38]
ChrX:77284832 [GRCh37]
ChrX:Xq21.1		 likely pathogenic|uncertain significance
NM_000052.7(ATP7A):c.2187G>A (p.Trp729Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000194105]|Menkes kinky-hair syndrome [RCV004796090] ChrX:78012893 [GRCh38]
ChrX:77268390 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3288C>A (p.Cys1096Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000194181] ChrX:78031576 [GRCh38]
ChrX:77287074 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1885G>C (p.Ala629Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV000194213] ChrX:78011191 [GRCh38]
ChrX:77266688 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.598C>T (p.Gln200Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000194247] ChrX:77988719 [GRCh38]
ChrX:77244215 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2302del (p.Ala768fs) deletion Menkes kinky-hair syndrome [RCV000194263] ChrX:78013008 [GRCh38]
ChrX:77268505 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1946+1G>C single nucleotide variant Menkes kinky-hair syndrome [RCV000194275] ChrX:78011253 [GRCh38]
ChrX:77266750 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3800A>T (p.Gln1267Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV000194316] ChrX:78040732 [GRCh38]
ChrX:77296230 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2395_2405delinsAGCATC (p.His799fs) indel Menkes kinky-hair syndrome [RCV000194331] ChrX:78013101..78013111 [GRCh38]
ChrX:77268598..77268608 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1006G>T (p.Glu336Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000194386] ChrX:77989628 [GRCh38]
ChrX:77245124 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1950G>A (p.Trp650Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000194429] ChrX:78011452 [GRCh38]
ChrX:77266949 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000194461]|Menkes kinky-hair syndrome [RCV001857688]|not provided [RCV005252802] ChrX:77989847 [GRCh38]
ChrX:77245343 [GRCh37]
ChrX:Xq21.1		 pathogenic|conflicting interpretations of pathogenicity
NM_000052.7(ATP7A):c.3132T>G (p.Asp1044Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV000194489] ChrX:78031420 [GRCh38]
ChrX:77286918 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) single nucleotide variant Ehlers-Danlos syndrome [RCV002277451]|Inborn genetic diseases [RCV002372162]|Menkes kinky-hair syndrome [RCV001081638]|not provided [RCV000527923]|not specified [RCV000194531] ChrX:78042714 [GRCh38]
ChrX:77298212 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.1460C>A (p.Ser487Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000194569] ChrX:77998601 [GRCh38]
ChrX:77254098 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2172G>T (p.Gln724His) single nucleotide variant Menkes kinky-hair syndrome [RCV000194586] ChrX:78011674 [GRCh38]
ChrX:77267171 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2106G>T (p.Glu702Asp) single nucleotide variant not specified [RCV000194615] ChrX:78011608 [GRCh38]
ChrX:77267105 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4011TCT[1] (p.Leu1339del) microsatellite Menkes kinky-hair syndrome [RCV000194645] ChrX:78043322..78043324 [GRCh38]
ChrX:77298820..77298822 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2498+2T>A single nucleotide variant Menkes kinky-hair syndrome [RCV000194674] ChrX:78014755 [GRCh38]
ChrX:77270252 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3352G>T (p.Gly1118Cys) single nucleotide variant Menkes kinky-hair syndrome [RCV000194716] ChrX:78033662 [GRCh38]
ChrX:77289160 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.4123G>A (p.Gly1375Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV000194717] ChrX:78043434 [GRCh38]
ChrX:77298932 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000194736]|Menkes kinky-hair syndrome [RCV000807620] ChrX:78003168 [GRCh38]
ChrX:77258665 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2555C>T (p.Pro852Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV000194783] ChrX:78015810 [GRCh38]
ChrX:77271307 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3466C>T (p.Gln1156Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000194826] ChrX:78033776 [GRCh38]
ChrX:77289274 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2781G>C (p.Lys927Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV000194847] ChrX:78020398 [GRCh38]
ChrX:77275895 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) single nucleotide variant Cutis laxa, X-linked [RCV001330731]|Menkes kinky-hair syndrome [RCV000194915] ChrX:78011498 [GRCh38]
ChrX:77266995 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs) microsatellite ATP7A-related disorder [RCV004725044]|Menkes kinky-hair syndrome [RCV000195012]|Menkes kinky-hair syndrome [RCV000806050] ChrX:77988541..77988542 [GRCh38]
ChrX:77244037..77244038 [GRCh37]
ChrX:Xq21.1		 pathogenic|likely pathogenic
NM_000052.7(ATP7A):c.2179G>T (p.Gly727Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000195017] ChrX:78012885 [GRCh38]
ChrX:77268382 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1870-1G>C single nucleotide variant Menkes kinky-hair syndrome [RCV000195126]|Menkes kinky-hair syndrome [RCV003765212]|not provided [RCV004696867] ChrX:78011175 [GRCh38]
ChrX:77266672 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3774delinsATGACTGG (p.Ser1258delinsArgTer) indel Menkes kinky-hair syndrome [RCV000195218] ChrX:78040706 [GRCh38]
ChrX:77296204 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3537del (p.Val1180fs) deletion Menkes kinky-hair syndrome [RCV000195251] ChrX:78038859 [GRCh38]
ChrX:77294357 [GRCh37]
ChrX:Xq21.1		 pathogenic|likely pathogenic
NM_000052.7(ATP7A):c.1947-1G>C single nucleotide variant Menkes kinky-hair syndrome [RCV000193718] ChrX:78011448 [GRCh38]
ChrX:77266945 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1946+5G>A single nucleotide variant Menkes kinky-hair syndrome [RCV000192316] ChrX:78011257 [GRCh38]
ChrX:77266754 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2405_2406+1delinsT indel Menkes kinky-hair syndrome [RCV000192361] ChrX:78013111..78013113 [GRCh38]
ChrX:77268608..77268610 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1978_2008dup (p.Tyr670fs) duplication Menkes kinky-hair syndrome [RCV000192463] ChrX:78011478..78011479 [GRCh38]
ChrX:77266975..77266976 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.6(ATP7A):c.3152_3156delACGGAins4 indel Menkes kinky-hair syndrome [RCV000192522] ChrX:78031440..78031444 [GRCh38]
ChrX:77286938..77286942 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3294+1G>T single nucleotide variant Menkes kinky-hair syndrome [RCV000192588] ChrX:78031583 [GRCh38]
ChrX:77287081 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3658+13A>G single nucleotide variant Menkes kinky-hair syndrome [RCV005222821]|not specified [RCV000192931] ChrX:78038995 [GRCh38]
ChrX:77294493 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3801+4A>G single nucleotide variant Menkes kinky-hair syndrome [RCV000193334] ChrX:78040737 [GRCh38]
ChrX:77296235 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.4005+1G>T single nucleotide variant Menkes kinky-hair syndrome [RCV000193560]|Menkes kinky-hair syndrome [RCV001852548] ChrX:78042789 [GRCh38]
ChrX:77298287 [GRCh37]
ChrX:Xq21.1		 pathogenic|likely pathogenic
NM_000052.7(ATP7A):c.4123+1G>A single nucleotide variant Menkes kinky-hair syndrome [RCV000193682] ChrX:78043435 [GRCh38]
ChrX:77298933 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2172+5G>C single nucleotide variant Menkes kinky-hair syndrome [RCV000193917]|Menkes kinky-hair syndrome [RCV001044291] ChrX:78011679 [GRCh38]
ChrX:77267176 [GRCh37]
ChrX:Xq21.1		 pathogenic|likely pathogenic
NM_000052.7(ATP7A):c.2916+3_2916+6del deletion Menkes kinky-hair syndrome [RCV000193969]|Menkes kinky-hair syndrome [RCV002517057] ChrX:78021080..78021083 [GRCh38]
ChrX:77276577..77276580 [GRCh37]
ChrX:Xq21.1		 pathogenic|likely pathogenic
NM_000052.7(ATP7A):c.4226+5G>A single nucleotide variant Menkes kinky-hair syndrome [RCV000194120] ChrX:78045577 [GRCh38]
ChrX:77301074 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1707+6T>A single nucleotide variant Cutis laxa, X-linked [RCV000012552]|not specified [RCV000194132] ChrX:78003242 [GRCh38]
ChrX:77258739 [GRCh37]
ChrX:Xq21.1		 pathogenic|likely pathogenic|uncertain significance
NM_000052.7(ATP7A):c.3112-1G>A single nucleotide variant Menkes kinky-hair syndrome [RCV000194513] ChrX:78031399 [GRCh38]
ChrX:77286897 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3801+1G>T single nucleotide variant Menkes kinky-hair syndrome [RCV000194924] ChrX:78040734 [GRCh38]
ChrX:77296232 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1708-11G>T single nucleotide variant not specified [RCV000195155] ChrX:78009091 [GRCh38]
ChrX:77264588 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2248_2251dup (p.Val751fs) duplication Menkes kinky-hair syndrome [RCV000195170] ChrX:78012951..78012952 [GRCh38]
ChrX:77268448..77268449 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2499-1_2504dup duplication Menkes kinky-hair syndrome [RCV000192331] ChrX:78015751..78015752 [GRCh38]
ChrX:77271248..77271249 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3920C>G (p.Pro1307Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV000192416] ChrX:78042703 [GRCh38]
ChrX:77298201 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1013T>A (p.Val338Glu) single nucleotide variant not specified [RCV000192427] ChrX:77989635 [GRCh38]
ChrX:77245131 [GRCh37]
ChrX:Xq21.1		 benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=) single nucleotide variant Ehlers-Danlos syndrome [RCV002279348]|Inborn genetic diseases [RCV002330881]|Menkes kinky-hair syndrome [RCV000545476] ChrX:78046489 [GRCh38]
ChrX:77301986 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) single nucleotide variant ATP7A-related disorder [RCV003960316]|Ehlers-Danlos syndrome [RCV002279346]|Menkes kinky-hair syndrome [RCV001079346]|not provided [RCV000757016] ChrX:77988298 [GRCh38]
ChrX:77243794 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.2158T>G (p.Cys720Gly) single nucleotide variant Inborn genetic diseases [RCV002312482]|Menkes kinky-hair syndrome [RCV001295790]|Menkes kinky-hair syndrome [RCV001830588]|not provided [RCV004768607] ChrX:78011660 [GRCh38]
ChrX:77267157 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg) single nucleotide variant Inborn genetic diseases [RCV002354621]|Menkes kinky-hair syndrome [RCV000693165]|Menkes kinky-hair syndrome [RCV001274235]|not provided [RCV000219495] ChrX:78042646 [GRCh38]
ChrX:77298144 [GRCh37]
ChrX:Xq21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV001854755]|Menkes kinky-hair syndrome [RCV002272184]|not provided [RCV000221793] ChrX:78038845 [GRCh38]
ChrX:77294343 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1892T>C (p.Leu631Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV001854757]|not provided [RCV000213985] ChrX:78011198 [GRCh38]
ChrX:77266695 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3358A>G (p.Ser1120Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV001494810] ChrX:78033668 [GRCh38]
ChrX:77289166 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4445C>G (p.Pro1482Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV000553520] ChrX:78046512 [GRCh38]
ChrX:77302009 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) single nucleotide variant ATP7A-related disorder [RCV003937864]|Inborn genetic diseases [RCV002429079]|Menkes kinky-hair syndrome [RCV000876286]|not provided [RCV001705231] ChrX:78015785 [GRCh38]
ChrX:77271282 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|uncertain significance
NM_001029891.3(PGAM4):c.649G>A (p.Val217Ile) single nucleotide variant not provided [RCV000224715]|not specified [RCV004020714] ChrX:77968990 [GRCh38]
ChrX:77224487 [GRCh37]
ChrX:Xq21.1		 benign|uncertain significance
NM_000052.7(ATP7A):c.1435C>T (p.Gln479Ter) single nucleotide variant not provided [RCV000757019] ChrX:77998576 [GRCh38]
ChrX:77254073 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) single nucleotide variant Inborn genetic diseases [RCV002450718]|Menkes kinky-hair syndrome [RCV001085537]|Menkes kinky-hair syndrome [RCV003311726]|not provided [RCV000529093] ChrX:78015786 [GRCh38]
ChrX:77271283 [GRCh37]
ChrX:Xq21.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) single nucleotide variant ATP7A-related disorder [RCV003919997]|Inborn genetic diseases [RCV002317776]|Menkes kinky-hair syndrome [RCV001080708]|Menkes kinky-hair syndrome [RCV001274236]|not provided [RCV000235823] ChrX:78042666 [GRCh38]
ChrX:77298164 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) single nucleotide variant Ehlers-Danlos syndrome [RCV002277595]|Inborn genetic diseases [RCV002321900]|Menkes kinky-hair syndrome [RCV000784893]|Menkes kinky-hair syndrome [RCV001084874]|not provided [RCV000235848] ChrX:78043377 [GRCh38]
ChrX:77298875 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.4102G>A (p.Val1368Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV001274026]|not provided [RCV000236031] ChrX:78043413 [GRCh38]
ChrX:77298911 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2957G>A (p.Arg986Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV002518435]|not provided [RCV000235979] ChrX:78029290 [GRCh38]
ChrX:77284787 [GRCh37]
ChrX:Xq21.1		 likely pathogenic|uncertain significance
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val) single nucleotide variant Ehlers-Danlos syndrome [RCV002277594]|Inborn genetic diseases [RCV002450722]|Menkes kinky-hair syndrome [RCV000878391]|not provided [RCV004701330] ChrX:78038889 [GRCh38]
ChrX:77294387 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.3788C>G (p.Ser1263Cys) single nucleotide variant Menkes kinky-hair syndrome [RCV001833249]|Menkes kinky-hair syndrome [RCV001857793]|not provided [RCV000236158] ChrX:78040720 [GRCh38]
ChrX:77296218 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2329C>A (p.Pro777Thr) single nucleotide variant not provided [RCV000236205] ChrX:78013035 [GRCh38]
ChrX:77268532 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV001857807]|not provided [RCV000236728]|not specified [RCV001001221] ChrX:78033647 [GRCh38]
ChrX:77289145 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1707+6_1707+9del microsatellite not provided [RCV000236881] ChrX:78003237..78003240 [GRCh38]
ChrX:77258734..77258737 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile) single nucleotide variant Inborn genetic diseases [RCV002518470]|Menkes kinky-hair syndrome [RCV000693195]|not provided [RCV000236851] ChrX:78042677 [GRCh38]
ChrX:77298175 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1993A>C (p.Met665Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV002518449]|not provided [RCV000237067] ChrX:78011495 [GRCh38]
ChrX:77266992 [GRCh37]
ChrX:Xq21.1		 benign|uncertain significance
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val) single nucleotide variant Inborn genetic diseases [RCV002374385]|Menkes kinky-hair syndrome [RCV000543671]|not provided [RCV001705298] ChrX:77989544 [GRCh38]
ChrX:77245040 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln) single nucleotide variant Inborn genetic diseases [RCV005278540]|Menkes kinky-hair syndrome [RCV000877920]|not specified [RCV000236986] ChrX:78046431 [GRCh38]
ChrX:77301928 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|uncertain significance
NM_000052.7(ATP7A):c.4425C>A (p.Asn1475Lys) single nucleotide variant not provided [RCV000519044] ChrX:78046492 [GRCh38]
ChrX:77301989 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1		 pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000052.7(ATP7A):c.3012G>C (p.Leu1004=) single nucleotide variant Menkes kinky-hair syndrome [RCV001493779] ChrX:78029345 [GRCh38]
ChrX:77284842 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1082C>T (p.Ser361Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV001362009]|not provided [RCV000487621] ChrX:77989704 [GRCh38]
ChrX:77245200 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2782-29C>A single nucleotide variant not provided [RCV001640460]|not specified [RCV000241649] ChrX:78020916 [GRCh38]
ChrX:77276413 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2916+2402del deletion not specified [RCV000246491] ChrX:78023475 [GRCh38]
ChrX:77278972 [GRCh37]
ChrX:Xq21.1		 likely benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
NM_000052.7(ATP7A):c.2131G>C (p.Val711Leu) single nucleotide variant not provided [RCV001770216]|not specified [RCV000241989] ChrX:78011633 [GRCh38]
ChrX:77267130 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000052.7(ATP7A):c.2407-184G>T single nucleotide variant not provided [RCV001618360]|not specified [RCV000249925] ChrX:78014478 [GRCh38]
ChrX:77269975 [GRCh37]
ChrX:Xq21.1		 benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000052.7(ATP7A):c.1306G>A (p.Glu436Lys) single nucleotide variant not provided [RCV000304536] ChrX:77989928 [GRCh38]
ChrX:77245424 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) single nucleotide variant ATP7A-related disorder [RCV003920120]|Ehlers-Danlos syndrome [RCV002278303]|Inborn genetic diseases [RCV002311406]|Menkes kinky-hair syndrome [RCV000557076]|not provided [RCV001711859]|not specified [RCV000342543] ChrX:77988448 [GRCh38]
ChrX:77243944 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) single nucleotide variant Inborn genetic diseases [RCV002314011]|Menkes kinky-hair syndrome [RCV001085214]|not provided [RCV000725407] ChrX:78011457 [GRCh38]
ChrX:77266954 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.1721C>G (p.Thr574Arg) single nucleotide variant Inborn genetic diseases [RCV005286051]|Menkes kinky-hair syndrome [RCV001859571]|not provided [RCV000385771] ChrX:78009115 [GRCh38]
ChrX:77264612 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3416A>G (p.Asp1139Gly) single nucleotide variant Inborn genetic diseases [RCV002450832]|Menkes kinky-hair syndrome [RCV001516129]|not specified [RCV000317973] ChrX:78033726 [GRCh38]
ChrX:77289224 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) single nucleotide variant Inborn genetic diseases [RCV002314012]|Menkes kinky-hair syndrome [RCV001080192]|not provided [RCV000725408] ChrX:78043317 [GRCh38]
ChrX:77298815 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=) single nucleotide variant Menkes kinky-hair syndrome [RCV001078732]|Menkes kinky-hair syndrome [RCV001833356]|not provided [RCV000368289] ChrX:78009128 [GRCh38]
ChrX:77264625 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.2971del (p.Ala991fs) deletion Menkes kinky-hair syndrome [RCV003312813] ChrX:78029304 [GRCh38]
ChrX:77284801 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1708-1G>C single nucleotide variant Menkes kinky-hair syndrome [RCV003312833] ChrX:78009101 [GRCh38]
ChrX:77264598 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3914A>G (p.Asp1305Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV003312867] ChrX:78042697 [GRCh38]
ChrX:77298195 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3974C>T (p.Ala1325Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003312869] ChrX:78042757 [GRCh38]
ChrX:77298255 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4030_4031insTGCCA (p.Ser1344fs) insertion Menkes kinky-hair syndrome [RCV003312874] ChrX:78043340..78043341 [GRCh38]
ChrX:77298838..77298839 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4238C>G (p.Pro1413Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003312892] ChrX:78046305 [GRCh38]
ChrX:77301802 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.463A>T (p.Lys155Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312894] ChrX:77988584 [GRCh38]
ChrX:77244080 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.589C>T (p.Gln197Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312898] ChrX:77988710 [GRCh38]
ChrX:77244206 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.659_663del (p.Ile220fs) deletion Menkes kinky-hair syndrome [RCV003312899] ChrX:77989280..77989284 [GRCh38]
ChrX:77244776..77244780 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
NM_000052.7(ATP7A):c.941A>G (p.Asn314Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV002528224]|not provided [RCV000488233] ChrX:77989563 [GRCh38]
ChrX:77245059 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2407-14G>T single nucleotide variant Menkes kinky-hair syndrome [RCV002060643]|not specified [RCV000602600] ChrX:78014648 [GRCh38]
ChrX:77270145 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.2694del (p.Ser899fs) deletion not provided [RCV000335819] ChrX:78020309 [GRCh38]
ChrX:77275806 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1974_1977dup (p.Phe660fs) duplication not provided [RCV000372922] ChrX:78011474..78011475 [GRCh38]
ChrX:77266971..77266972 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2570C>T (p.Pro857Leu) single nucleotide variant not provided [RCV000327613] ChrX:78015825 [GRCh38]
ChrX:77271322 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003766966]|not provided [RCV000521317] ChrX:77988263 [GRCh38]
ChrX:77243759 [GRCh37]
ChrX:Xq21.1		 benign|uncertain significance
NM_000052.7(ATP7A):c.3812del (p.Thr1271fs) deletion not provided [RCV000522102] ChrX:78042595 [GRCh38]
ChrX:77298093 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=) single nucleotide variant ATP7A-related disorder [RCV003953067]|Inborn genetic diseases [RCV002431806]|Menkes kinky-hair syndrome [RCV000640912]|not provided [RCV001698402] ChrX:78020326 [GRCh38]
ChrX:77275823 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.2556A>T (p.Pro852=) single nucleotide variant ATP7A-related disorder [RCV003905729]|Menkes kinky-hair syndrome [RCV000640904] ChrX:78015811 [GRCh38]
ChrX:77271308 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.864T>C (p.Cys288=) single nucleotide variant Ehlers-Danlos syndrome [RCV002279462]|Menkes kinky-hair syndrome [RCV000640906]|not provided [RCV001644726] ChrX:77989486 [GRCh38]
ChrX:77244982 [GRCh37]
ChrX:Xq21.1		 benign
NC_000023.10:g.(?_77271231)_(77271398_?)del deletion Menkes kinky-hair syndrome [RCV000640917] ChrX:77271231..77271398 [GRCh37]
ChrX:Xq21.1		 pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_000052.7(ATP7A):c.120+5G>A single nucleotide variant not provided [RCV000733835] ChrX:77971766 [GRCh38]
ChrX:77227263 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe) single nucleotide variant Inborn genetic diseases [RCV004965450]|Menkes kinky-hair syndrome [RCV001087633]|not provided [RCV000416018] ChrX:78011199 [GRCh38]
ChrX:77266696 [GRCh37]
ChrX:Xq21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn) single nucleotide variant Inborn genetic diseases [RCV002311861]|Menkes kinky-hair syndrome [RCV000529659]|not provided [RCV001811047]|not specified [RCV000600863] ChrX:77988612 [GRCh38]
ChrX:77244108 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) single nucleotide variant Inborn genetic diseases [RCV002314989]|Menkes kinky-hair syndrome [RCV000526977]|not provided [RCV001572670]|not specified [RCV000600179] ChrX:78045547 [GRCh38]
ChrX:77301044 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.903A>C (p.Ala301=) single nucleotide variant Menkes kinky-hair syndrome [RCV000535596] ChrX:77989525 [GRCh38]
ChrX:77245021 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3037_3038delinsGA (p.Met1013Glu) indel Menkes kinky-hair syndrome [RCV000536444] ChrX:78029370..78029371 [GRCh38]
ChrX:77284867..77284868 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3374A>G (p.Asn1125Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV001457297] ChrX:78033684 [GRCh38]
ChrX:77289182 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val) single nucleotide variant ATP7A-related disorder [RCV003900169]|Inborn genetic diseases [RCV002367848]|Menkes kinky-hair syndrome [RCV000549839]|not provided [RCV001764568]|not specified [RCV002265795] ChrX:77989778 [GRCh38]
ChrX:77245274 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=) single nucleotide variant Menkes kinky-hair syndrome [RCV001835789]|Menkes kinky-hair syndrome [RCV002523950]|not specified [RCV000413911] ChrX:78031462 [GRCh38]
ChrX:77286960 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met) single nucleotide variant Inborn genetic diseases [RCV002436234]|Menkes kinky-hair syndrome [RCV000530559]|Menkes kinky-hair syndrome [RCV001828381]|not provided [RCV003144246]|not specified [RCV000414022] ChrX:77988399 [GRCh38]
ChrX:77243895 [GRCh37]
ChrX:Xq21.1		 benign|uncertain significance
NM_000052.7(ATP7A):c.673A>G (p.Met225Val) single nucleotide variant Menkes kinky-hair syndrome [RCV001079767]|not provided [RCV000523020] ChrX:77989295 [GRCh38]
ChrX:77244791 [GRCh37]
ChrX:Xq21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000052.7(ATP7A):c.1142T>G (p.Ile381Arg) single nucleotide variant not provided [RCV000434121] ChrX:77989764 [GRCh38]
ChrX:77245260 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) single nucleotide variant Cutis laxa, X-linked [RCV001196180]|Ehlers-Danlos syndrome [RCV002279202]|Inborn genetic diseases [RCV002348215]|Menkes kinky-hair syndrome [RCV001085591]|Menkes kinky-hair syndrome [RCV001274227]|not provided [RCV000445022] ChrX:77989622 [GRCh38]
ChrX:77245118 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.2939G>A (p.Arg980Gln) single nucleotide variant Inborn genetic diseases [RCV003243127]|not provided [RCV000445107] ChrX:78029272 [GRCh38]
ChrX:77284769 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1273C>T (p.Leu425=) single nucleotide variant Menkes kinky-hair syndrome [RCV001477743]|not specified [RCV000417958] ChrX:77989895 [GRCh38]
ChrX:77245391 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) single nucleotide variant Ehlers-Danlos syndrome [RCV002279185]|Inborn genetic diseases [RCV002411349]|Menkes kinky-hair syndrome [RCV001080642]|not provided [RCV000757018] ChrX:78009131 [GRCh38]
ChrX:77264628 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp) single nucleotide variant ATP7A-related disorder [RCV003897910]|Menkes kinky-hair syndrome [RCV001828433]|Menkes kinky-hair syndrome [RCV002522440]|not provided [RCV000424494] ChrX:78011212 [GRCh38]
ChrX:77266709 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2867G>A (p.Trp956Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003311807]|not provided [RCV000420383] ChrX:78021030 [GRCh38]
ChrX:77276527 [GRCh37]
ChrX:Xq21.1		 pathogenic|uncertain significance
NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV000640894]|not provided [RCV000432056] ChrX:78013059 [GRCh38]
ChrX:77268556 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.278C>G (p.Thr93Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV001828426]|Menkes kinky-hair syndrome [RCV004725216]|not provided [RCV000439170] ChrX:77988399 [GRCh38]
ChrX:77243895 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3153C>T (p.His1051=) single nucleotide variant ATP7A-related disorder [RCV003932553]|Menkes kinky-hair syndrome [RCV000544524]|not provided [RCV001705550] ChrX:78031441 [GRCh38]
ChrX:77286939 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV001035427]|not specified [RCV000443197] ChrX:78009196 [GRCh38]
ChrX:77264693 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp) single nucleotide variant Ehlers-Danlos syndrome [RCV002279204]|Menkes kinky-hair syndrome [RCV002525437]|not provided [RCV000443207] ChrX:77998675 [GRCh38]
ChrX:77254172 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=) single nucleotide variant Menkes kinky-hair syndrome [RCV000908444]|not provided [RCV001704530] ChrX:78012947 [GRCh38]
ChrX:77268444 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV001080223]|not provided [RCV000429551] ChrX:78031400 [GRCh38]
ChrX:77286898 [GRCh37]
ChrX:Xq21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV001089330]|not provided [RCV000426016]|not specified [RCV002282146] ChrX:77989652 [GRCh38]
ChrX:77245148 [GRCh37]
ChrX:Xq21.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.3117G>T (p.Lys1039Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV002524754]|not specified [RCV000436537] ChrX:78031405 [GRCh38]
ChrX:77286903 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV000640896]|Menkes kinky-hair syndrome [RCV001828448]|not provided [RCV000422781] ChrX:78003126 [GRCh38]
ChrX:77258623 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met) single nucleotide variant Inborn genetic diseases [RCV002402192]|Menkes kinky-hair syndrome [RCV001833557]|Menkes kinky-hair syndrome [RCV001861618]|not provided [RCV001508048]|not specified [RCV000444044] ChrX:78009115 [GRCh38]
ChrX:77264612 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.-22+13T>G single nucleotide variant not specified [RCV000437099] ChrX:77910848 [GRCh38]
ChrX:77166345 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) single nucleotide variant ATP7A-related disorder [RCV003922702]|Inborn genetic diseases [RCV002429351]|Menkes kinky-hair syndrome [RCV001082386]|not provided [RCV000762657]|not specified [RCV001726158] ChrX:77989631 [GRCh38]
ChrX:77245127 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|uncertain significance
NM_000052.7(ATP7A):c.1630G>C (p.Glu544Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV001454784]|not provided [RCV000430636] ChrX:78003159 [GRCh38]
ChrX:77258656 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile) single nucleotide variant Inborn genetic diseases [RCV002329161]|Menkes kinky-hair syndrome [RCV000640892]|not provided [RCV001722409] ChrX:78046379 [GRCh38]
ChrX:77301876 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val) single nucleotide variant Inborn genetic diseases [RCV002455937]|Menkes kinky-hair syndrome [RCV001513989]|not provided [RCV001704646] ChrX:78033744 [GRCh38]
ChrX:77289242 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|uncertain significance
NM_000052.7(ATP7A):c.3137C>T (p.Thr1046Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV001265560]|not provided [RCV000484292] ChrX:78031425 [GRCh38]
ChrX:77286923 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23		 pathogenic
NM_000052.7(ATP7A):c.2485A>T (p.Asn829Tyr) single nucleotide variant not provided [RCV000498373] ChrX:78014740 [GRCh38]
ChrX:77270237 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3140G>A (p.Gly1047Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV000502988] ChrX:78031428 [GRCh38]
ChrX:77286926 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
GRCh37/hg19 Xq21.1(chrX:76959723-77242763)x3 copy number gain See cases [RCV000510582] ChrX:76959723..77242763 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3295-12_3295-3del deletion not specified [RCV000500922] ChrX:78033587..78033596 [GRCh38]
ChrX:77289085..77289094 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala) single nucleotide variant ATP7A-related disorder [RCV003424044]|Menkes kinky-hair syndrome [RCV001241257]|Menkes kinky-hair syndrome [RCV001835828]|not provided [RCV001696820] ChrX:77998525 [GRCh38]
ChrX:77254022 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1		 pathogenic
NM_000052.7(ATP7A):c.3295-6del deletion Menkes kinky-hair syndrome [RCV002060167]|not specified [RCV000505956] ChrX:78033597 [GRCh38]
ChrX:77289095 [GRCh37]
ChrX:Xq21.1		 likely benign
GRCh37/hg19 Xq21.1(chrX:77212971-77537309)x3 copy number gain See cases [RCV000511566] ChrX:77212971..77537309 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3902A>G (p.Asp1301Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV003311831]|not specified [RCV000506245] ChrX:78042685 [GRCh38]
ChrX:77298183 [GRCh37]
ChrX:Xq21.1		 likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.1(chrX:77136497-77331185)x1 copy number loss See cases [RCV000512032] ChrX:77136497..77331185 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg) single nucleotide variant ATP7A-related disorder [RCV003419831]|Menkes kinky-hair syndrome [RCV001241258]|Menkes kinky-hair syndrome [RCV001834599]|not provided [RCV001712456] ChrX:78012931 [GRCh38]
ChrX:77268428 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.1(chrX:77145640-77173912)x3 copy number gain See cases [RCV000510831] ChrX:77145640..77173912 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_000052.7(ATP7A):c.1910C>G (p.Ser637Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312928] ChrX:78011216 [GRCh38]
ChrX:77266713 [GRCh37]
ChrX:Xq21.1		 pathogenic|uncertain significance
NM_000052.7(ATP7A):c.1234del (p.Ala413fs) deletion Menkes kinky-hair syndrome [RCV003312955] ChrX:77989854 [GRCh38]
ChrX:77245350 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2206dup (p.Tyr736fs) duplication Menkes kinky-hair syndrome [RCV003312959] ChrX:78012910..78012911 [GRCh38]
ChrX:77268407..77268408 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2354dup (p.Met786fs) duplication Menkes kinky-hair syndrome [RCV003312965] ChrX:78013055..78013056 [GRCh38]
ChrX:77268552..77268553 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2407-2A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003312969] ChrX:78014660 [GRCh38]
ChrX:77270157 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2446C>T (p.Gln816Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312971] ChrX:78014701 [GRCh38]
ChrX:77270198 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2557G>C (p.Gly853Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003312978] ChrX:78015812 [GRCh38]
ChrX:77271309 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2579G>T (p.Gly860Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003312979] ChrX:78015834 [GRCh38]
ChrX:77271331 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77266653)_(77268629_?)dup duplication Menkes kinky-hair syndrome [RCV000556476] ChrX:77266653..77268629 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.972C>T (p.Ser324=) single nucleotide variant not specified [RCV000601578] ChrX:77989594 [GRCh38]
ChrX:77245090 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3476C>T (p.Thr1159Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV000526563] ChrX:78033786 [GRCh38]
ChrX:77289284 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1788C>T (p.Ser596=) single nucleotide variant Menkes kinky-hair syndrome [RCV000975810]|not specified [RCV000604048] ChrX:78009182 [GRCh38]
ChrX:77264679 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000530815] ChrX:78033783 [GRCh38]
ChrX:77289281 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3801+6T>C single nucleotide variant Ehlers-Danlos syndrome [RCV002279347]|Inborn genetic diseases [RCV002367849]|Menkes kinky-hair syndrome [RCV000534617]|not provided [RCV001704671] ChrX:78040739 [GRCh38]
ChrX:77296237 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.4310A>G (p.His1437Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV001483521]|not provided [RCV000585598] ChrX:78046377 [GRCh38]
ChrX:77301874 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.4006-1G>A single nucleotide variant ATP7A-related disorder [RCV004742494]|Menkes kinky-hair syndrome [RCV000538247] ChrX:78043316 [GRCh38]
ChrX:77298814 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV000541241]|not specified [RCV000608309] ChrX:78011573 [GRCh38]
ChrX:77267070 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1028dup (p.Tyr343Ter) duplication Menkes kinky-hair syndrome [RCV003312798] ChrX:77989649..77989650 [GRCh38]
ChrX:77245145..77245146 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2888del (p.Asn963fs) deletion Menkes kinky-hair syndrome [RCV003312807] ChrX:78021050 [GRCh38]
ChrX:77276547 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2938del (p.Arg980fs) deletion Menkes kinky-hair syndrome [RCV003312811] ChrX:78029269 [GRCh38]
ChrX:77284766 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3020C>T (p.Ala1007Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003312818] ChrX:78029353 [GRCh38]
ChrX:77284850 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3043G>A (p.Gly1015Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV003312820] ChrX:78029376 [GRCh38]
ChrX:77284873 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3143C>T (p.Thr1048Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003312831] ChrX:78031431 [GRCh38]
ChrX:77286929 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3293_3294del (p.Gln1098fs) deletion Menkes kinky-hair syndrome [RCV003312836] ChrX:78031581..78031582 [GRCh38]
ChrX:77287079..77287080 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3492del (p.Ile1165fs) deletion Menkes kinky-hair syndrome [RCV003312845] ChrX:78033801 [GRCh38]
ChrX:77289299 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3763G>A (p.Gly1255Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003312851] ChrX:78040695 [GRCh38]
ChrX:77296193 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3775A>T (p.Lys1259Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312852] ChrX:78040707 [GRCh38]
ChrX:77296205 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3862C>T (p.Gln1288Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312858] ChrX:78042645 [GRCh38]
ChrX:77298143 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3912T>A (p.Asn1304Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV003312865] ChrX:78042695 [GRCh38]
ChrX:77298193 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4105G>A (p.Gly1369Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003312878] ChrX:78043416 [GRCh38]
ChrX:77298914 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4167del (p.Ser1390fs) deletion Menkes kinky-hair syndrome [RCV003312882] ChrX:78045513 [GRCh38]
ChrX:77301010 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1139_1140del (p.Val380fs) microsatellite Menkes kinky-hair syndrome [RCV003312927] ChrX:77989759..77989760 [GRCh38]
ChrX:77245255..77245256 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2172+1G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003312954] ChrX:78011675 [GRCh38]
ChrX:77267172 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp) single nucleotide variant ATP7A-related disorder [RCV003935655]|Inborn genetic diseases [RCV002315908]|Menkes kinky-hair syndrome [RCV000875118]|Menkes kinky-hair syndrome [RCV001834937]|not provided [RCV001697370] ChrX:78038913 [GRCh38]
ChrX:77294411 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) single nucleotide variant Inborn genetic diseases [RCV000624547]|Menkes kinky-hair syndrome [RCV000687489]|Menkes kinky-hair syndrome [RCV001829743]|not provided [RCV003151797] ChrX:78046491 [GRCh38]
ChrX:77301988 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|uncertain significance
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu) single nucleotide variant Inborn genetic diseases [RCV002388073]|Menkes kinky-hair syndrome [RCV000640895]|not provided [RCV001508046] ChrX:77998526 [GRCh38]
ChrX:77254023 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp) single nucleotide variant Menkes kinky-hair syndrome [RCV000640899]|Menkes kinky-hair syndrome [RCV001835033] ChrX:78038877 [GRCh38]
ChrX:77294375 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.360T>A (p.Pro120=) single nucleotide variant Menkes kinky-hair syndrome [RCV000640901] ChrX:77988481 [GRCh38]
ChrX:77243977 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2499-9T>C single nucleotide variant Menkes kinky-hair syndrome [RCV000640916] ChrX:78015745 [GRCh38]
ChrX:77271242 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4226+9G>A single nucleotide variant Menkes kinky-hair syndrome [RCV000539584] ChrX:78045581 [GRCh38]
ChrX:77301078 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=) single nucleotide variant Menkes kinky-hair syndrome [RCV000945348]|not provided [RCV000609826] ChrX:77989267 [GRCh38]
ChrX:77244763 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln) single nucleotide variant Inborn genetic diseases [RCV002413531]|Menkes kinky-hair syndrome [RCV001086221]|not provided [RCV000828835] ChrX:78011240 [GRCh38]
ChrX:77266737 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2686C>T (p.Gln896Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312801] ChrX:78020303 [GRCh38]
ChrX:77275800 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2916+1G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003312808] ChrX:78021080 [GRCh38]
ChrX:77276577 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2916+5G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003312810] ChrX:78021084 [GRCh38]
ChrX:77276581 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3005G>T (p.Cys1002Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV003312816] ChrX:78029338 [GRCh38]
ChrX:77284835 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3017T>C (p.Leu1006Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV003312817] ChrX:78029350 [GRCh38]
ChrX:77284847 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3040dup (p.Val1014fs) duplication Menkes kinky-hair syndrome [RCV003312819] ChrX:78029371..78029372 [GRCh38]
ChrX:77284868..77284869 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3044G>A (p.Gly1015Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV003312821] ChrX:78029377 [GRCh38]
ChrX:77284874 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3045del (p.Thr1016fs) deletion Menkes kinky-hair syndrome [RCV003312822] ChrX:78029378 [GRCh38]
ChrX:77284875 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1707+5G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003312823] ChrX:78003241 [GRCh38]
ChrX:77258738 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3111+4A>C single nucleotide variant Cutis laxa, X-linked [RCV003312826] ChrX:78029448 [GRCh38]
ChrX:77284945 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3293A>C (p.Gln1098Pro) single nucleotide variant Cutis laxa, X-linked [RCV003312837] ChrX:78031581 [GRCh38]
ChrX:77287079 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3445del (p.Gln1149fs) deletion Menkes kinky-hair syndrome [RCV003312844] ChrX:78033755 [GRCh38]
ChrX:77289253 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3693_3694del (p.Val1232fs) deletion Menkes kinky-hair syndrome [RCV003312849] ChrX:78040625..78040626 [GRCh38]
ChrX:77296123..77296124 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3792del (p.Ile1264fs) deletion Menkes kinky-hair syndrome [RCV003312854] ChrX:78040723 [GRCh38]
ChrX:77296221 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3801+3A>C single nucleotide variant Menkes kinky-hair syndrome [RCV003312855] ChrX:78040736 [GRCh38]
ChrX:77296234 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3882del (p.Lys1294fs) deletion Menkes kinky-hair syndrome [RCV003312859] ChrX:78042663 [GRCh38]
ChrX:77298161 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3914A>C (p.Asp1305Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV003312866] ChrX:78042697 [GRCh38]
ChrX:77298195 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4005+1del deletion Menkes kinky-hair syndrome [RCV003312871] ChrX:78042787 [GRCh38]
ChrX:77298285 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4006-2A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003312873] ChrX:78043315 [GRCh38]
ChrX:77298813 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4198_4199del (p.Val1400fs) deletion Menkes kinky-hair syndrome [RCV003312887] ChrX:78045543..78045544 [GRCh38]
ChrX:77301040..77301041 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4210_4226+19del deletion Menkes kinky-hair syndrome [RCV003312888] ChrX:78045554..78045589 [GRCh38]
ChrX:77301051..77301086 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1856dup (p.His620fs) duplication Menkes kinky-hair syndrome [RCV003312893] ChrX:78009249..78009250 [GRCh38]
ChrX:77264746..77264747 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.721C>T (p.Gln241Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312902] ChrX:77989343 [GRCh38]
ChrX:77244839 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1884dup (p.Ala629fs) duplication Menkes kinky-hair syndrome [RCV003312912] ChrX:78011188..78011189 [GRCh38]
ChrX:77266685..77266686 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1903G>C (p.Asp635His) single nucleotide variant Menkes kinky-hair syndrome [RCV003312924] ChrX:78011209 [GRCh38]
ChrX:77266706 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1946+2T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003312934] ChrX:78011254 [GRCh38]
ChrX:77266751 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1946+4A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003312935] ChrX:78011256 [GRCh38]
ChrX:77266753 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1949G>A (p.Trp650Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312940] ChrX:78011451 [GRCh38]
ChrX:77266948 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2170C>T (p.Gln724Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312952] ChrX:78011672 [GRCh38]
ChrX:77267169 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2284_2285del (p.Leu762fs) deletion Menkes kinky-hair syndrome [RCV003312961] ChrX:78012989..78012990 [GRCh38]
ChrX:77268486..77268487 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2347dup (p.Thr783fs) duplication Menkes kinky-hair syndrome [RCV003312964] ChrX:78013052..78013053 [GRCh38]
ChrX:77268549..77268550 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2508del (p.Val837fs) deletion Menkes kinky-hair syndrome [RCV003312974] ChrX:78015762 [GRCh38]
ChrX:77271259 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2612_2613del (p.Glu871fs) deletion Menkes kinky-hair syndrome [RCV003312981] ChrX:78015866..78015867 [GRCh38]
ChrX:77271363..77271364 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2626+2T>A single nucleotide variant Menkes kinky-hair syndrome [RCV003312984] ChrX:78015883 [GRCh38]
ChrX:77271380 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3659-5A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003767649]|not specified [RCV000613324] ChrX:78040586 [GRCh38]
ChrX:77296084 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3168G>T (p.Val1056=) single nucleotide variant Menkes kinky-hair syndrome [RCV000640907] ChrX:78031456 [GRCh38]
ChrX:77286954 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1758C>T (p.Leu586=) single nucleotide variant not specified [RCV000608127] ChrX:78009152 [GRCh38]
ChrX:77264649 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1814A>G (p.His605Arg) single nucleotide variant Inborn genetic diseases [RCV004965557]|Menkes kinky-hair syndrome [RCV000527314]|not provided [RCV002506337] ChrX:78009208 [GRCh38]
ChrX:77264705 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2458G>C (p.Ala820Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV000530011] ChrX:78014713 [GRCh38]
ChrX:77270210 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.513C>T (p.Val171=) single nucleotide variant Menkes kinky-hair syndrome [RCV001456845]|not provided [RCV000888366] ChrX:77988634 [GRCh38]
ChrX:77244130 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.610+19A>G single nucleotide variant Menkes kinky-hair syndrome [RCV002066743]|not specified [RCV000608934] ChrX:77988750 [GRCh38]
ChrX:77244246 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.-22+13T>C single nucleotide variant not specified [RCV000603467] ChrX:77910848 [GRCh38]
ChrX:77166345 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1870-3T>A single nucleotide variant not provided [RCV000519542] ChrX:78011173 [GRCh38]
ChrX:77266670 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3049G>A (p.Gly1017Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV000626101] ChrX:78029382 [GRCh38]
ChrX:77284879 [GRCh37]
ChrX:Xq21.1		 pathogenic|likely pathogenic
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met) single nucleotide variant Menkes kinky-hair syndrome [RCV000615428]|Menkes kinky-hair syndrome [RCV003767739]|not provided [RCV001755993] ChrX:78009183 [GRCh38]
ChrX:77264680 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr) single nucleotide variant Inborn genetic diseases [RCV002424438]|Menkes kinky-hair syndrome [RCV000640890]|Menkes kinky-hair syndrome [RCV001835031] ChrX:78020342 [GRCh38]
ChrX:77275839 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys) single nucleotide variant Inborn genetic diseases [RCV002449008]|Menkes kinky-hair syndrome [RCV000640891]|X-linked distal spinal muscular atrophy type 3 [RCV004768496]|not provided [RCV001756068] ChrX:78012985 [GRCh38]
ChrX:77268482 [GRCh37]
ChrX:Xq21.1		 likely pathogenic|benign|likely benign|uncertain significance
NM_000052.7(ATP7A):c.4490A>G (p.Asp1497Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV000640898] ChrX:78046557 [GRCh38]
ChrX:77302054 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2532T>G (p.Arg844=) single nucleotide variant Menkes kinky-hair syndrome [RCV000640902] ChrX:78015787 [GRCh38]
ChrX:77271284 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met) single nucleotide variant Menkes kinky-hair syndrome [RCV000640908]|not provided [RCV001726282] ChrX:78029281 [GRCh38]
ChrX:77284778 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) single nucleotide variant Inborn genetic diseases [RCV002449009]|Menkes kinky-hair syndrome [RCV001089200]|See cases [RCV002252186]|not provided [RCV000842321] ChrX:77989502 [GRCh38]
ChrX:77244998 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=) single nucleotide variant Menkes kinky-hair syndrome [RCV000640910]|not provided [RCV003437353] ChrX:78038945 [GRCh38]
ChrX:77294443 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.219T>C (p.Ala73=) single nucleotide variant Menkes kinky-hair syndrome [RCV000640914] ChrX:77988340 [GRCh38]
ChrX:77243836 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2499-7T>C single nucleotide variant Menkes kinky-hair syndrome [RCV001510001]|Menkes kinky-hair syndrome [RCV001829613]|not provided [RCV000585324] ChrX:78015747 [GRCh38]
ChrX:77271244 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_000052.7(ATP7A):c.1621A>G (p.Met541Val) single nucleotide variant Menkes kinky-hair syndrome [RCV001865685]|not provided [RCV000513480] ChrX:78003150 [GRCh38]
ChrX:77258647 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2972C>A (p.Ala991Asp) single nucleotide variant X-linked distal spinal muscular atrophy type 3 [RCV000664208] ChrX:78029305 [GRCh38]
ChrX:77284802 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.31dup (p.Thr11fs) duplication Inborn genetic diseases [RCV002312781] ChrX:77971671..77971672 [GRCh38]
ChrX:77227168..77227169 [GRCh37]
ChrX:Xq21.1		 pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31		 pathogenic
GRCh37/hg19 Xq21.1(chrX:76902857-77454045)x2 copy number gain not provided [RCV000684350] ChrX:76902857..77454045 [GRCh37]
ChrX:Xq21.1		 pathogenic
GRCh37/hg19 Xq21.1(chrX:77259796-77537309)x2 copy number gain not provided [RCV000684351] ChrX:77259796..77537309 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xq21.1(chrX:77259796-77537309)x3 copy number gain not provided [RCV000684352] ChrX:77259796..77537309 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xq21.1(chrX:76820808-78113526)x3 copy number gain not provided [RCV000684349] ChrX:76820808..78113526 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3457A>G (p.Ser1153Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV000698595] ChrX:78033767 [GRCh38]
ChrX:77289265 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2019_2021dup (p.Val673_Met674insIle) duplication Menkes kinky-hair syndrome [RCV000690541]|not provided [RCV003159151] ChrX:78011519..78011520 [GRCh38]
ChrX:77267016..77267017 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer) deletion Menkes kinky-hair syndrome [RCV000692272] ChrX:78014722 [GRCh38]
ChrX:77270219 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.502G>A (p.Ala168Thr) single nucleotide variant Inborn genetic diseases [RCV002334269]|Menkes kinky-hair syndrome [RCV000688279] ChrX:77988623 [GRCh38]
ChrX:77244119 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000704722] ChrX:77998678 [GRCh38]
ChrX:77254175 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3790A>G (p.Ile1264Val) single nucleotide variant Menkes kinky-hair syndrome [RCV000695508]|not provided [RCV004588126] ChrX:78040722 [GRCh38]
ChrX:77296220 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV000703031]|Menkes kinky-hair syndrome [RCV001830553]|not provided [RCV003437402] ChrX:77988438 [GRCh38]
ChrX:77243934 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV000696282]|not provided [RCV003442037] ChrX:78020978 [GRCh38]
ChrX:77276475 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV000698996]|Menkes kinky-hair syndrome [RCV001830539]|not provided [RCV001796191] ChrX:77971733 [GRCh38]
ChrX:77227230 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val) single nucleotide variant Inborn genetic diseases [RCV003380695]|Menkes kinky-hair syndrome [RCV000703372]|not provided [RCV001508045] ChrX:77989466 [GRCh38]
ChrX:77244962 [GRCh37]
ChrX:Xq21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.1159A>C (p.Thr387Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV000703772] ChrX:77989781 [GRCh38]
ChrX:77245277 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala) single nucleotide variant Inborn genetic diseases [RCV002314494]|Menkes kinky-hair syndrome [RCV003768130] ChrX:78046515 [GRCh38]
ChrX:77302012 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1835T>G (p.Ile612Ser) single nucleotide variant Inborn genetic diseases [RCV002318057]|Menkes kinky-hair syndrome [RCV001835939]|Menkes kinky-hair syndrome [RCV004723135] ChrX:78009229 [GRCh38]
ChrX:77264726 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1544-155G>T single nucleotide variant not provided [RCV001546234] ChrX:78002918 [GRCh38]
ChrX:77258415 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2465T>C (p.Ile822Thr) single nucleotide variant Inborn genetic diseases [RCV002318018]|Menkes kinky-hair syndrome [RCV001519019] ChrX:78014720 [GRCh38]
ChrX:77270217 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile) single nucleotide variant Inborn genetic diseases [RCV002318870]|Menkes kinky-hair syndrome [RCV000821440]|not provided [RCV004588159] ChrX:77971656 [GRCh38]
ChrX:77227153 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln) single nucleotide variant Inborn genetic diseases [RCV002318876]|Menkes kinky-hair syndrome [RCV001466222] ChrX:78038956 [GRCh38]
ChrX:77294454 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.4038C>T (p.Asp1346=) single nucleotide variant ATP7A-related disorder [RCV004742597]|Inborn genetic diseases [RCV002316690]|Menkes kinky-hair syndrome [RCV000899414] ChrX:78043349 [GRCh38]
ChrX:77298847 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2207A>T (p.Tyr736Phe) single nucleotide variant Inborn genetic diseases [RCV002318688]|Menkes kinky-hair syndrome [RCV001337659] ChrX:78012913 [GRCh38]
ChrX:77268410 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4498T>G (p.Leu1500Val) single nucleotide variant Inborn genetic diseases [RCV002318019] ChrX:78046565 [GRCh38]
ChrX:77302062 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr) single nucleotide variant ATP7A-related disorder [RCV003908003]|Inborn genetic diseases [RCV002318099]|Menkes kinky-hair syndrome [RCV000990879]|Menkes kinky-hair syndrome [RCV001862055] ChrX:78009250 [GRCh38]
ChrX:77264747 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=) single nucleotide variant History of neurodevelopmental disorder [RCV000720998]|Menkes kinky-hair syndrome [RCV000983910]|not provided [RCV001550248] ChrX:78046334 [GRCh38]
ChrX:77301831 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.4094A>T (p.Tyr1365Phe) single nucleotide variant not provided [RCV000723089] ChrX:78043405 [GRCh38]
ChrX:77298903 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.*40C>G single nucleotide variant not provided [RCV001567155] ChrX:78046610 [GRCh38]
ChrX:77302107 [GRCh37]
ChrX:Xq21.1		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.1(chrX:76709799-77196518)x2 copy number gain not provided [RCV000753611] ChrX:76709799..77196518 [GRCh37]
ChrX:Xq21.1		 benign
GRCh37/hg19 Xq21.1(chrX:77030645-77205047)x0 copy number loss not provided [RCV000753613] ChrX:77030645..77205047 [GRCh37]
ChrX:Xq21.1		 benign
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.11:g.77957506_78280549dup duplication not provided [RCV001542276] ChrX:77957506..78280549 [GRCh38]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3112-66= deletion not provided [RCV001725030] ChrX:78031334..78031338 [GRCh38]
ChrX:77286832..77286836 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.1152T>C (p.Asp384=) single nucleotide variant Menkes kinky-hair syndrome [RCV001444931]|Menkes kinky-hair syndrome [RCV001832148] ChrX:77989774 [GRCh38]
ChrX:77245270 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1615C>A (p.Pro539Thr) single nucleotide variant ATP7A-related disorder [RCV003895349]|Inborn genetic diseases [RCV004962897]|Menkes kinky-hair syndrome [RCV001513954] ChrX:78003144 [GRCh38]
ChrX:77258641 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.3950C>A (p.Ala1317Asp) single nucleotide variant not provided [RCV000762658] ChrX:78042733 [GRCh38]
ChrX:77298231 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_001029891.3(PGAM4):c.713C>T (p.Thr238Met) single nucleotide variant not specified [RCV004324379] ChrX:77968926 [GRCh38]
ChrX:77224423 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.-21-2239C>T single nucleotide variant Menkes kinky-hair syndrome [RCV000990878]|not provided [RCV004714175] ChrX:77969382 [GRCh38]
ChrX:77224879 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2047C>T (p.His683Tyr) single nucleotide variant not provided [RCV001570429] ChrX:78011549 [GRCh38]
ChrX:77267046 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4123+241dup duplication not provided [RCV001570757] ChrX:78043657..78043658 [GRCh38]
ChrX:77299155..77299156 [GRCh37]
ChrX:Xq21.1		 likely benign
NC_000023.10:g.(?_77227108)_(77305902_?)dup duplication Menkes kinky-hair syndrome [RCV001031632] ChrX:77227108..77305902 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4467G>C (p.Val1489=) single nucleotide variant Menkes kinky-hair syndrome [RCV001449219] ChrX:78046534 [GRCh38]
ChrX:77302031 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.84G>A (p.Gln28=) single nucleotide variant Menkes kinky-hair syndrome [RCV001451224] ChrX:77971725 [GRCh38]
ChrX:77227222 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3903T>C (p.Asp1301=) single nucleotide variant Menkes kinky-hair syndrome [RCV001411364] ChrX:78042686 [GRCh38]
ChrX:77298184 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4029A>C (p.Ala1343=) single nucleotide variant not provided [RCV000943944] ChrX:78043340 [GRCh38]
ChrX:77298838 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.705A>C (p.Pro235=) single nucleotide variant Menkes kinky-hair syndrome [RCV000884356]|Menkes kinky-hair syndrome [RCV001274226] ChrX:77989327 [GRCh38]
ChrX:77244823 [GRCh37]
ChrX:Xq21.1		 benign|uncertain significance
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=) single nucleotide variant Menkes kinky-hair syndrome [RCV000982365]|Menkes kinky-hair syndrome [RCV001827111] ChrX:78011476 [GRCh38]
ChrX:77266973 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV000915556]|Menkes kinky-hair syndrome [RCV001825839] ChrX:77988596 [GRCh38]
ChrX:77244092 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.282G>A (p.Ala94=) single nucleotide variant ATP7A-related disorder [RCV003970646]|Menkes kinky-hair syndrome [RCV000945563]|Menkes kinky-hair syndrome [RCV001279989]|not provided [RCV001585875] ChrX:77988403 [GRCh38]
ChrX:77243899 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.2607A>G (p.Val869=) single nucleotide variant Menkes kinky-hair syndrome [RCV000876676]|Menkes kinky-hair syndrome [RCV001830925] ChrX:78015862 [GRCh38]
ChrX:77271359 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp) single nucleotide variant Inborn genetic diseases [RCV002332942]|Menkes kinky-hair syndrome [RCV001277502]|Menkes kinky-hair syndrome [RCV001404689] ChrX:78046334 [GRCh38]
ChrX:77301831 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2778A>G (p.Ser926=) single nucleotide variant Menkes kinky-hair syndrome [RCV000916197] ChrX:78020395 [GRCh38]
ChrX:77275892 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2364T>C (p.Phe788=) single nucleotide variant Menkes kinky-hair syndrome [RCV000929133] ChrX:78013070 [GRCh38]
ChrX:77268567 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV000983812]|Menkes kinky-hair syndrome [RCV001274229]|not provided [RCV003145243] ChrX:77998651 [GRCh38]
ChrX:77254148 [GRCh37]
ChrX:Xq21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.695T>C (p.Met232Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV002001520] ChrX:77989317 [GRCh38]
ChrX:77244813 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly) single nucleotide variant Inborn genetic diseases [RCV002402423]|Menkes kinky-hair syndrome [RCV001058784]|Menkes kinky-hair syndrome [RCV001274231] ChrX:78003103 [GRCh38]
ChrX:77258600 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
GRCh37/hg19 Xq21.1(chrX:77238734-77312616) copy number loss Menkes kinky-hair syndrome [RCV001089961] ChrX:77238734..77312616 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1947-65G>A single nucleotide variant not provided [RCV001581806] ChrX:78011384 [GRCh38]
ChrX:77266881 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1850A>G (p.Asp617Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV001048966] ChrX:78009244 [GRCh38]
ChrX:77264741 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1767C>G (p.His589Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV000810116] ChrX:78009161 [GRCh38]
ChrX:77264658 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xq21.1(chrX:77244108-77244998) copy number loss Menkes kinky-hair syndrome [RCV000767801] ChrX:77244108..77244998 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1864A>G (p.Ile622Val) single nucleotide variant Menkes kinky-hair syndrome [RCV000790390]|Menkes kinky-hair syndrome [RCV003768463] ChrX:78009258 [GRCh38]
ChrX:77264755 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000052.7(ATP7A):c.3210C>T (p.His1070=) single nucleotide variant ATP7A-related disorder [RCV004742668]|Inborn genetic diseases [RCV002320036]|Menkes kinky-hair syndrome [RCV000873741]|Menkes kinky-hair syndrome [RCV001274234]|not provided [RCV001709694] ChrX:78031498 [GRCh38]
ChrX:77286996 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.729G>A (p.Lys243=) single nucleotide variant Menkes kinky-hair syndrome [RCV001398768]|Menkes kinky-hair syndrome [RCV001825753]|not provided [RCV005231923] ChrX:77989351 [GRCh38]
ChrX:77244847 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=) single nucleotide variant Menkes kinky-hair syndrome [RCV000876888]|Menkes kinky-hair syndrome [RCV001825772]|not provided [RCV001537576] ChrX:78003206 [GRCh38]
ChrX:77258703 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly) single nucleotide variant ATP7A-related disorder [RCV003908329]|Inborn genetic diseases [RCV002399963]|Menkes kinky-hair syndrome [RCV000876194]|Menkes kinky-hair syndrome [RCV001274232]|not provided [RCV001692311] ChrX:78009162 [GRCh38]
ChrX:77264659 [GRCh37]
ChrX:Xq21.1		 benign|uncertain significance
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV000874076]|Menkes kinky-hair syndrome [RCV001825763] ChrX:78038911 [GRCh38]
ChrX:77294409 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys) single nucleotide variant Menkes kinky-hair syndrome [RCV001435844]|not specified [RCV001000803] ChrX:78046481 [GRCh38]
ChrX:77301978 [GRCh37]
ChrX:Xq21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=) single nucleotide variant ATP7A-related disorder [RCV003955731]|Inborn genetic diseases [RCV002332841]|Menkes kinky-hair syndrome [RCV000875767] ChrX:78046312 [GRCh38]
ChrX:77301809 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg) single nucleotide variant ATP7A-related disorder [RCV003902981]|Menkes kinky-hair syndrome [RCV000918971]|Menkes kinky-hair syndrome [RCV001825851]|not provided [RCV001555413] ChrX:78011237 [GRCh38]
ChrX:77266734 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.1708-5A>C single nucleotide variant Menkes kinky-hair syndrome [RCV001393105] ChrX:78009097 [GRCh38]
ChrX:77264594 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His) single nucleotide variant Menkes kinky-hair syndrome [RCV000873628]|not provided [RCV003438531] ChrX:78015837 [GRCh38]
ChrX:77271334 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=) single nucleotide variant Menkes kinky-hair syndrome [RCV000939195]|Menkes kinky-hair syndrome [RCV001826981] ChrX:77989642 [GRCh38]
ChrX:77245138 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.312A>G (p.Gln104=) single nucleotide variant ATP7A-related disorder [RCV003895366]|Ehlers-Danlos syndrome [RCV002279589]|Menkes kinky-hair syndrome [RCV000875517]|Menkes kinky-hair syndrome [RCV001279990]|not provided [RCV001576867] ChrX:77988433 [GRCh38]
ChrX:77243929 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.2627-2A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003312799] ChrX:78020242 [GRCh38]
ChrX:77275739 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2627G>A (p.Gly876Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV003312800] ChrX:78020244 [GRCh38]
ChrX:77275741 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3073_3074insAT (p.Leu1025fs) insertion Menkes kinky-hair syndrome [RCV003312825] ChrX:78029406..78029407 [GRCh38]
ChrX:77284903..77284904 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3241G>T (p.Glu1081Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312832] ChrX:78031529 [GRCh38]
ChrX:77287027 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3257del (p.His1086fs) deletion Menkes kinky-hair syndrome [RCV003312835] ChrX:78031545 [GRCh38]
ChrX:77287043 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3511+1G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003312846] ChrX:78033822 [GRCh38]
ChrX:77289320 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3681del (p.Ile1228fs) deletion Menkes kinky-hair syndrome [RCV003312848] ChrX:78040612 [GRCh38]
ChrX:77296110 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3905G>T (p.Gly1302Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003312864] ChrX:78042688 [GRCh38]
ChrX:77298186 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4226+1G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003312889] ChrX:78045573 [GRCh38]
ChrX:77301070 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.532G>T (p.Glu178Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312897] ChrX:77988653 [GRCh38]
ChrX:77244149 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.659_666del (p.Ile220fs) deletion Menkes kinky-hair syndrome [RCV003312900] ChrX:77989279..77989286 [GRCh38]
ChrX:77244775..77244782 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1936G>T (p.Glu646Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312932] ChrX:78011242 [GRCh38]
ChrX:77266739 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1947-1G>T single nucleotide variant Menkes kinky-hair syndrome [RCV003312939] ChrX:78011448 [GRCh38]
ChrX:77266945 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2153T>A (p.Leu718Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312949] ChrX:78011655 [GRCh38]
ChrX:77267152 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2609A>G (p.Asp870Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV003312980] ChrX:78015864 [GRCh38]
ChrX:77271361 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3705del (p.Ala1236fs) deletion Menkes kinky-hair syndrome [RCV003312850] ChrX:78040636 [GRCh38]
ChrX:77296134 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_000052.7(ATP7A):c.2375C>T (p.Ala792Val) single nucleotide variant Menkes kinky-hair syndrome [RCV002536336]|not provided [RCV000659169] ChrX:78013081 [GRCh38]
ChrX:77268578 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3915_3921del (p.Asp1305fs) deletion not provided [RCV000595248] ChrX:78042697..78042703 [GRCh38]
ChrX:77298195..77298201 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3289A>C (p.Lys1097Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV000640893] ChrX:78031577 [GRCh38]
ChrX:77287075 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln) single nucleotide variant ATP7A-related disorder [RCV004742551]|Inborn genetic diseases [RCV002317397]|Menkes kinky-hair syndrome [RCV000640915] ChrX:78038937 [GRCh38]
ChrX:77294435 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
GRCh37/hg19 Xq13.1-21.1(chrX:71316395-84337550)x3 copy number gain See cases [RCV000447565] ChrX:71316395..84337550 [GRCh37]
ChrX:Xq13.1-21.1		 uncertain significance
NM_000052.7(ATP7A):c.239C>T (p.Pro80Leu) single nucleotide variant Ehlers-Danlos syndrome [RCV002279500]|Inborn genetic diseases [RCV002318874]|Menkes kinky-hair syndrome [RCV001514642] ChrX:77988360 [GRCh38]
ChrX:77243856 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NC_000023.10:g.(?_77084697)_(77264780_?)dup duplication X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia [RCV001032982] ChrX:77084697..77264780 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2626+1G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003312983] ChrX:78015882 [GRCh38]
ChrX:77271379 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1585G>T (p.Glu529Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312976] ChrX:78003114 [GRCh38]
ChrX:77258611 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2618T>G (p.Leu873Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003312982] ChrX:78015873 [GRCh38]
ChrX:77271370 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2771A>G (p.Gln924Arg) single nucleotide variant Cutis laxa, X-linked [RCV003312804] ChrX:78020388 [GRCh38]
ChrX:77275885 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2781+1G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003312805] ChrX:78020399 [GRCh38]
ChrX:77275896 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2781G>A (p.Lys927=) single nucleotide variant Menkes kinky-hair syndrome [RCV003312806] ChrX:78020398 [GRCh38]
ChrX:77275895 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2916+2480T>G single nucleotide variant Cutis laxa, X-linked [RCV003312809] ChrX:78023559 [GRCh38]
ChrX:77279056 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2998T>C (p.Cys1000Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003312814] ChrX:78029331 [GRCh38]
ChrX:77284828 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3112-2A>C single nucleotide variant Menkes kinky-hair syndrome [RCV003312828] ChrX:78031398 [GRCh38]
ChrX:77286896 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3112-2A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003312829] ChrX:78031398 [GRCh38]
ChrX:77286896 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3294+1G>C single nucleotide variant Menkes kinky-hair syndrome [RCV003312838] ChrX:78031583 [GRCh38]
ChrX:77287081 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3511+5G>A single nucleotide variant Cutis laxa, X-linked [RCV003312847] ChrX:78033826 [GRCh38]
ChrX:77289324 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1748_1749del (p.Glu583fs) microsatellite Menkes kinky-hair syndrome [RCV003312853] ChrX:78009140..78009141 [GRCh38]
ChrX:77264637..77264638 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3844A>G (p.Lys1282Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV003312857] ChrX:78042627 [GRCh38]
ChrX:77298125 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3899G>A (p.Gly1300Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV003312860] ChrX:78042682 [GRCh38]
ChrX:77298180 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4117G>C (p.Ala1373Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV003312879] ChrX:78043428 [GRCh38]
ChrX:77298926 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4123+5G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003312881] ChrX:78043439 [GRCh38]
ChrX:77298937 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1135del (p.Thr379fs) deletion Menkes kinky-hair syndrome [RCV003312883] ChrX:77989755 [GRCh38]
ChrX:77245251 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1818del (p.Lys607fs) deletion Menkes kinky-hair syndrome [RCV003312884] ChrX:78009211 [GRCh38]
ChrX:77264708 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4177A>G (p.Met1393Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003312885] ChrX:78045523 [GRCh38]
ChrX:77301020 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4226+2T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003312890] ChrX:78045574 [GRCh38]
ChrX:77301071 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.521del (p.Lys174fs) deletion Menkes kinky-hair syndrome [RCV003312895] ChrX:77988641 [GRCh38]
ChrX:77244137 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.693del (p.Met232fs) deletion Menkes kinky-hair syndrome [RCV003312901] ChrX:77989315 [GRCh38]
ChrX:77244811 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1870-2A>T single nucleotide variant Menkes kinky-hair syndrome [RCV003312904] ChrX:78011174 [GRCh38]
ChrX:77266671 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1898A>G (p.Lys633Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003312921] ChrX:78011204 [GRCh38]
ChrX:77266701 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1189_1192del (p.Gly397fs) deletion Menkes kinky-hair syndrome [RCV003312936] ChrX:77989810..77989813 [GRCh38]
ChrX:77245306..77245309 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1946+6T>G single nucleotide variant Menkes kinky-hair syndrome [RCV003312938] ChrX:78011258 [GRCh38]
ChrX:77266755 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2057del (p.Asn686fs) deletion Menkes kinky-hair syndrome [RCV003312945] ChrX:78011556 [GRCh38]
ChrX:77267053 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2059A>G (p.Met687Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003312946] ChrX:78011561 [GRCh38]
ChrX:77267058 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2068G>T (p.Glu690Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312947] ChrX:78011570 [GRCh38]
ChrX:77267067 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2159del (p.Cys720fs) deletion Menkes kinky-hair syndrome [RCV003312951] ChrX:78011661 [GRCh38]
ChrX:77267158 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2337_2350del (p.Phe780fs) deletion Menkes kinky-hair syndrome [RCV003312963] ChrX:78013041..78013054 [GRCh38]
ChrX:77268538..77268551 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2383C>A (p.Arg795=) single nucleotide variant Menkes kinky-hair syndrome [RCV003312966] ChrX:78013089 [GRCh38]
ChrX:77268586 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2406+3A>T single nucleotide variant Cutis laxa, X-linked [RCV003312968] ChrX:78013115 [GRCh38]
ChrX:77268612 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2473_2474del (p.Thr824_Leu825insTer) microsatellite Menkes kinky-hair syndrome [RCV003312972] ChrX:78014726..78014727 [GRCh38]
ChrX:77270223..77270224 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2518G>T (p.Glu840Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312975] ChrX:78015773 [GRCh38]
ChrX:77271270 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV000804376]|Menkes kinky-hair syndrome [RCV001830742]|not provided [RCV003117594] ChrX:78003087 [GRCh38]
ChrX:77258584 [GRCh37]
ChrX:Xq21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.1543+9C>G single nucleotide variant Ehlers-Danlos syndrome [RCV002279557]|Menkes kinky-hair syndrome [RCV001490968]|Menkes kinky-hair syndrome [RCV001830855]|not provided [RCV000841351] ChrX:77998693 [GRCh38]
ChrX:77254190 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3696G>A (p.Val1232=) single nucleotide variant Menkes kinky-hair syndrome [RCV001477772]|Menkes kinky-hair syndrome [RCV001832140] ChrX:78040628 [GRCh38]
ChrX:77296126 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2627-7C>T single nucleotide variant Menkes kinky-hair syndrome [RCV001450311] ChrX:78020237 [GRCh38]
ChrX:77275734 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val) single nucleotide variant Inborn genetic diseases [RCV002434020]|Menkes kinky-hair syndrome [RCV000822880]|Menkes kinky-hair syndrome [RCV001830819] ChrX:78029310 [GRCh38]
ChrX:77284807 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=) single nucleotide variant Menkes kinky-hair syndrome [RCV001089160]|Menkes kinky-hair syndrome [RCV001825701]|not provided [RCV000841578] ChrX:78009116 [GRCh38]
ChrX:77264613 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV000809589]|Menkes kinky-hair syndrome [RCV001835973]|not provided [RCV003314649] ChrX:78020327 [GRCh38]
ChrX:77275824 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.-22+117T>C single nucleotide variant not provided [RCV000837675] ChrX:77910952 [GRCh38]
ChrX:77166449 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.202G>A (p.Asp68Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV000821136]|not provided [RCV004723244] ChrX:77988323 [GRCh38]
ChrX:77243819 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val) single nucleotide variant Menkes kinky-hair syndrome [RCV000797897]|Menkes kinky-hair syndrome [RCV001825565] ChrX:78029403 [GRCh38]
ChrX:77284900 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile) single nucleotide variant Ehlers-Danlos syndrome [RCV002279531]|Inborn genetic diseases [RCV004965737]|Menkes kinky-hair syndrome [RCV000793378]|not provided [RCV004721604] ChrX:77988328 [GRCh38]
ChrX:77243824 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3659-257G>C single nucleotide variant not provided [RCV000832120] ChrX:78040334 [GRCh38]
ChrX:77295832 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=) single nucleotide variant Menkes kinky-hair syndrome [RCV001071041]|not provided [RCV000842572] ChrX:77989873 [GRCh38]
ChrX:77245369 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV000811332] ChrX:78040656 [GRCh38]
ChrX:77296154 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala) single nucleotide variant Ehlers-Danlos syndrome [RCV002279544]|Menkes kinky-hair syndrome [RCV000807468]|Menkes kinky-hair syndrome [RCV001830762] ChrX:77998628 [GRCh38]
ChrX:77254125 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3294+907C>T single nucleotide variant not provided [RCV000832496] ChrX:78032489 [GRCh38]
ChrX:77287987 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.112C>T (p.His38Tyr) single nucleotide variant Menkes kinky-hair syndrome [RCV000803406] ChrX:77971753 [GRCh38]
ChrX:77227250 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile) single nucleotide variant Inborn genetic diseases [RCV002415920]|Menkes kinky-hair syndrome [RCV000818218]|not provided [RCV001552958] ChrX:78011633 [GRCh38]
ChrX:77267130 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg) single nucleotide variant Inborn genetic diseases [RCV005286218]|Menkes kinky-hair syndrome [RCV000805243] ChrX:78040633 [GRCh38]
ChrX:77296131 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.610+108G>A single nucleotide variant not provided [RCV000836570] ChrX:77988839 [GRCh38]
ChrX:77244335 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys) single nucleotide variant Inborn genetic diseases [RCV002345800]|Menkes kinky-hair syndrome [RCV000803726] ChrX:77988489 [GRCh38]
ChrX:77243985 [GRCh37]
ChrX:Xq21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.2513A>G (p.Asp838Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV000795989] ChrX:78015768 [GRCh38]
ChrX:77271265 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4226+48A>G single nucleotide variant not provided [RCV000833445] ChrX:78045620 [GRCh38]
ChrX:77301117 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV000800485]|Menkes kinky-hair syndrome [RCV001835967] ChrX:78029361 [GRCh38]
ChrX:77284858 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.120+194A>G single nucleotide variant not provided [RCV000838150] ChrX:77971955 [GRCh38]
ChrX:77227452 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4062G>C (p.Arg1354Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV000797618] ChrX:78043373 [GRCh38]
ChrX:77298871 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.635C>T (p.Thr212Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV000824077] ChrX:77989257 [GRCh38]
ChrX:77244753 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
GRCh37/hg19 Xq21.1(chrX:77216310-77325123)x2 copy number gain not provided [RCV000848870] ChrX:77216310..77325123 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV000822216]|Menkes kinky-hair syndrome [RCV001830814] ChrX:78033771 [GRCh38]
ChrX:77289269 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.909A>G (p.Gln303=) single nucleotide variant Menkes kinky-hair syndrome [RCV001066944] ChrX:77989531 [GRCh38]
ChrX:77245027 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3778A>G (p.Thr1260Ala) single nucleotide variant not specified [RCV000790921] ChrX:78040710 [GRCh38]
ChrX:77296208 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1947-5A>G single nucleotide variant Inborn genetic diseases [RCV002408994]|Menkes kinky-hair syndrome [RCV000823770]|Menkes kinky-hair syndrome [RCV001825672] ChrX:78011444 [GRCh38]
ChrX:77266941 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32		 pathogenic
NM_000052.7(ATP7A):c.453del (p.Thr152fs) deletion Menkes kinky-hair syndrome [RCV000796257] ChrX:77988572 [GRCh38]
ChrX:77244068 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3294+1G>A single nucleotide variant Menkes kinky-hair syndrome [RCV000803093] ChrX:78031583 [GRCh38]
ChrX:77287081 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2836_2837del (p.Val946fs) deletion Menkes kinky-hair syndrome [RCV000990881] ChrX:78020998..78020999 [GRCh38]
ChrX:77276495..77276496 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3245G>A (p.Ser1082Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV000806633] ChrX:78031533 [GRCh38]
ChrX:77287031 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=) single nucleotide variant Menkes kinky-hair syndrome [RCV000876723]|Menkes kinky-hair syndrome [RCV001825771]|not provided [RCV001572312] ChrX:78009182 [GRCh38]
ChrX:77264679 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4123+288A>G single nucleotide variant not provided [RCV000843398] ChrX:78043722 [GRCh38]
ChrX:77299220 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2498+3A>T single nucleotide variant Menkes kinky-hair syndrome [RCV000823201] ChrX:78014756 [GRCh38]
ChrX:77270253 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4067G>A (p.Arg1356Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV000876602] ChrX:78043378 [GRCh38]
ChrX:77298876 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs) duplication Menkes kinky-hair syndrome [RCV000806929] ChrX:78031537..78031538 [GRCh38]
ChrX:77287035..77287036 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV000797169]|Menkes kinky-hair syndrome [RCV001835963] ChrX:78011541 [GRCh38]
ChrX:77267038 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV000792466]|Menkes kinky-hair syndrome [RCV001830686]|not provided [RCV003437428] ChrX:78046423 [GRCh38]
ChrX:77301920 [GRCh37]
ChrX:Xq21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV000816879]|Menkes kinky-hair syndrome [RCV001825642] ChrX:77988435 [GRCh38]
ChrX:77243931 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV000813946] ChrX:78042651 [GRCh38]
ChrX:77298149 [GRCh37]
ChrX:Xq21.1		 pathogenic
GRCh37/hg19 Xq21.1(chrX:77145640-77176642)x2 copy number gain not provided [RCV000848693] ChrX:77145640..77176642 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV000975343]|Menkes kinky-hair syndrome [RCV001827065] ChrX:77988494 [GRCh38]
ChrX:77243990 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
NM_000052.7(ATP7A):c.1714G>A (p.Gly572Arg) single nucleotide variant Inborn genetic diseases [RCV004034837]|Menkes kinky-hair syndrome [RCV001245672] ChrX:78009108 [GRCh38]
ChrX:77264605 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV000990882]|Menkes kinky-hair syndrome [RCV002550622] ChrX:78042654 [GRCh38]
ChrX:77298152 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3153C>A (p.His1051Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV001247926]|Menkes kinky-hair syndrome [RCV001835316] ChrX:78031441 [GRCh38]
ChrX:77286939 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2093C>T (p.Ser698Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV001214165] ChrX:78011595 [GRCh38]
ChrX:77267092 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2406+6G>A single nucleotide variant Menkes kinky-hair syndrome [RCV001203227]|Menkes kinky-hair syndrome [RCV001833787] ChrX:78013118 [GRCh38]
ChrX:77268615 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2663del (p.Thr888fs) deletion Menkes kinky-hair syndrome [RCV001237602] ChrX:78020280 [GRCh38]
ChrX:77275777 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.796T>A (p.Ser266Thr) single nucleotide variant ATP7A-related disorder [RCV004726996]|Menkes kinky-hair syndrome [RCV001222765] ChrX:77989418 [GRCh38]
ChrX:77244914 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2774C>T (p.Thr925Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV001223515]|not provided [RCV005057120] ChrX:78020391 [GRCh38]
ChrX:77275888 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser) single nucleotide variant Inborn genetic diseases [RCV002322147]|Intellectual disability [RCV001252421]|Menkes kinky-hair syndrome [RCV001241547]|Menkes kinky-hair syndrome [RCV001828980] ChrX:78043384 [GRCh38]
ChrX:77298882 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2365G>T (p.Val789Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV001043203]|Menkes kinky-hair syndrome [RCV001827261] ChrX:78013071 [GRCh38]
ChrX:77268568 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3776A>T (p.Lys1259Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV001221791]|Menkes kinky-hair syndrome [RCV001833922] ChrX:78040708 [GRCh38]
ChrX:77296206 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.94A>C (p.Lys32Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV001218714]|Menkes kinky-hair syndrome [RCV001828738] ChrX:77971735 [GRCh38]
ChrX:77227232 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His) single nucleotide variant Inborn genetic diseases [RCV002418825]|Menkes kinky-hair syndrome [RCV001240815]|Menkes kinky-hair syndrome [RCV001834131]|not provided [RCV004793339] ChrX:78011610 [GRCh38]
ChrX:77267107 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.462dup (p.Lys155fs) duplication Menkes kinky-hair syndrome [RCV001238546] ChrX:77988582..77988583 [GRCh38]
ChrX:77244078..77244079 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.556A>C (p.Thr186Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV001224810]|Menkes kinky-hair syndrome [RCV001833943] ChrX:77988677 [GRCh38]
ChrX:77244173 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2437A>G (p.Ile813Val) single nucleotide variant Menkes kinky-hair syndrome [RCV001246666]|Menkes kinky-hair syndrome [RCV001835278] ChrX:78014692 [GRCh38]
ChrX:77270189 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1 copy number loss not provided [RCV000847338] ChrX:74667077..90312981 [GRCh37]
ChrX:Xq13.3-21.31		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
NM_000052.7(ATP7A):c.2743C>T (p.Gln915Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312802] ChrX:78020360 [GRCh38]
ChrX:77275857 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1707+4A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003312815] ChrX:78003240 [GRCh38]
ChrX:77258737 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV003312827]|Menkes kinky-hair syndrome [RCV003777273] ChrX:78029444 [GRCh38]
ChrX:77284941 [GRCh37]
ChrX:Xq21.1		 pathogenic|uncertain significance
NM_000052.7(ATP7A):c.3299T>C (p.Leu1100Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV003312840] ChrX:78033609 [GRCh38]
ChrX:77289107 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3352G>A (p.Gly1118Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV003312841] ChrX:78033662 [GRCh38]
ChrX:77289160 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3836C>T (p.Pro1279Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV003312856] ChrX:78042619 [GRCh38]
ChrX:77298117 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3905G>A (p.Gly1302Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV003312863] ChrX:78042688 [GRCh38]
ChrX:77298186 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1780dup (p.Tyr594fs) duplication Menkes kinky-hair syndrome [RCV003312870] ChrX:78009173..78009174 [GRCh38]
ChrX:77264670..77264671 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4005+5G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003312872]|Menkes kinky-hair syndrome [RCV003777274] ChrX:78042793 [GRCh38]
ChrX:77298291 [GRCh37]
ChrX:Xq21.1		 likely pathogenic|uncertain significance
NM_000052.7(ATP7A):c.4118C>T (p.Ala1373Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003312880] ChrX:78043429 [GRCh38]
ChrX:77298927 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4178T>C (p.Met1393Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003312886] ChrX:78045524 [GRCh38]
ChrX:77301021 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4226+6T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003312891] ChrX:78045578 [GRCh38]
ChrX:77301075 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.526_529dup (p.Val177fs) duplication Menkes kinky-hair syndrome [RCV003312896] ChrX:77988645..77988646 [GRCh38]
ChrX:77244141..77244142 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.890del (p.Ser297fs) deletion Menkes kinky-hair syndrome [RCV003312903] ChrX:77989512 [GRCh38]
ChrX:77245008 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1958C>A (p.Ser653Tyr) single nucleotide variant Menkes kinky-hair syndrome [RCV003312941] ChrX:78011460 [GRCh38]
ChrX:77266957 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2056_2059del (p.Gln685_Asn686insTer) deletion Menkes kinky-hair syndrome [RCV003312944] ChrX:78011557..78011560 [GRCh38]
ChrX:77267054..77267057 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2117T>G (p.Leu706Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003312948] ChrX:78011619 [GRCh38]
ChrX:77267116 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2172+5_2172+19del deletion Menkes kinky-hair syndrome [RCV003312956] ChrX:78011675..78011689 [GRCh38]
ChrX:77267172..77267186 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2281T>C (p.Ser761Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV003312960] ChrX:78012987 [GRCh38]
ChrX:77268484 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2314_2317del (p.Arg772fs) microsatellite Menkes kinky-hair syndrome [RCV003312962] ChrX:78013017..78013020 [GRCh38]
ChrX:77268514..77268517 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2407-433A>G single nucleotide variant Cutis laxa, X-linked [RCV003312967] ChrX:78014229 [GRCh38]
ChrX:77269726 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2440T>C (p.Ser814Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV003312970] ChrX:78014695 [GRCh38]
ChrX:77270192 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2498+1G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003312973] ChrX:78014754 [GRCh38]
ChrX:77270251 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2626G>C (p.Gly876Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003312985] ChrX:78015881 [GRCh38]
ChrX:77271378 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2770C>T (p.Gln924Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312803] ChrX:78020387 [GRCh38]
ChrX:77275884 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2944G>T (p.Glu982Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312812] ChrX:78029277 [GRCh38]
ChrX:77284774 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3065del (p.Asn1022fs) deletion Menkes kinky-hair syndrome [RCV003312824] ChrX:78029395 [GRCh38]
ChrX:77284892 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3131A>G (p.Asp1044Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV003312830] ChrX:78031419 [GRCh38]
ChrX:77286917 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3244dup (p.Ser1082fs) duplication Menkes kinky-hair syndrome [RCV003312834] ChrX:78031529..78031530 [GRCh38]
ChrX:77287027..77287028 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3294+763C>G single nucleotide variant Cutis laxa, X-linked [RCV003312839] ChrX:78032345 [GRCh38]
ChrX:77287843 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3353G>A (p.Gly1118Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV003312842] ChrX:78033663 [GRCh38]
ChrX:77289161 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1734C>A (p.Cys578Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003312843] ChrX:78009128 [GRCh38]
ChrX:77264625 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1770_1771del (p.Gly591fs) microsatellite Menkes kinky-hair syndrome [RCV003312861] ChrX:78009162..78009163 [GRCh38]
ChrX:77264659..77264660 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3904G>A (p.Gly1302Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003312862] ChrX:78042687 [GRCh38]
ChrX:77298185 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3923C>A (p.Ala1308Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV003312868] ChrX:78042706 [GRCh38]
ChrX:77298204 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4032_4033delinsAT (p.Ser1344_Ile1345delinsArgPhe) indel Menkes kinky-hair syndrome [RCV003312875] ChrX:78043343..78043344 [GRCh38]
ChrX:77298841..77298842 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4057_4058dup (p.Ile1355fs) duplication Menkes kinky-hair syndrome [RCV003312876] ChrX:78043367..78043368 [GRCh38]
ChrX:77298865..77298866 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4085C>A (p.Ala1362Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV003312877] ChrX:78043396 [GRCh38]
ChrX:77298894 [GRCh37]
ChrX:Xq21.1		 likely pathogenic|uncertain significance
NM_000052.7(ATP7A):c.1883A>T (p.Glu628Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003312907] ChrX:78011189 [GRCh38]
ChrX:77266686 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1946+1G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003312933] ChrX:78011253 [GRCh38]
ChrX:77266750 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1946+5G>C single nucleotide variant Menkes kinky-hair syndrome [RCV003312937] ChrX:78011257 [GRCh38]
ChrX:77266754 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1958C>T (p.Ser653Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV003312942] ChrX:78011460 [GRCh38]
ChrX:77266957 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1971T>A (p.Ser657Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003312943] ChrX:78011473 [GRCh38]
ChrX:77266970 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2158T>C (p.Cys720Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003312950] ChrX:78011660 [GRCh38]
ChrX:77267157 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2171A>C (p.Gln724Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV003312953] ChrX:78011673 [GRCh38]
ChrX:77267170 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2172+6T>G single nucleotide variant Menkes kinky-hair syndrome [RCV003312957] ChrX:78011680 [GRCh38]
ChrX:77267177 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2173-1G>C single nucleotide variant Menkes kinky-hair syndrome [RCV003312958] ChrX:78012878 [GRCh38]
ChrX:77268375 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2557G>A (p.Gly853Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003312977] ChrX:78015812 [GRCh38]
ChrX:77271309 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1138G>A (p.Val380Met) single nucleotide variant ATP7A-related disorder [RCV003936260]|Menkes kinky-hair syndrome [RCV001516519]|not provided [RCV000995972] ChrX:77989760 [GRCh38]
ChrX:77245256 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.2687A>G (p.Gln896Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003769347]|not provided [RCV000995973] ChrX:78020304 [GRCh38]
ChrX:77275801 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4063A>G (p.Ile1355Val) single nucleotide variant not provided [RCV000995974] ChrX:78043374 [GRCh38]
ChrX:77298872 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1544-2A>T single nucleotide variant Cutis laxa, X-linked [RCV001198146]|Menkes kinky-hair syndrome [RCV001379325] ChrX:78003071 [GRCh38]
ChrX:77258568 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000052.7(ATP7A):c.3294+2T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003312100]|not provided [RCV003234449] ChrX:78031584 [GRCh38]
ChrX:77287082 [GRCh37]
ChrX:Xq21.1		 pathogenic|uncertain significance
NM_000052.7(ATP7A):c.3930A>G (p.Ala1310=) single nucleotide variant Menkes kinky-hair syndrome [RCV003104318] ChrX:78042713 [GRCh38]
ChrX:77298211 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3111+266G>A single nucleotide variant not provided [RCV001549431] ChrX:78029710 [GRCh38]
ChrX:77285207 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3044G>C (p.Gly1015Ala) single nucleotide variant not provided [RCV001544994]|not specified [RCV003235586] ChrX:78029377 [GRCh38]
ChrX:77284874 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2173-269dup duplication not provided [RCV001593405] ChrX:78012590..78012591 [GRCh38]
ChrX:77268087..77268088 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1543+86dup duplication not provided [RCV001637299] ChrX:77998768..77998769 [GRCh38]
ChrX:77254265..77254266 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.3658+136_3658+137del deletion not provided [RCV001639281] ChrX:78039118..78039119 [GRCh38]
ChrX:77294616..77294617 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2781+141G>A single nucleotide variant not provided [RCV001718187] ChrX:78020539 [GRCh38]
ChrX:77276036 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2498+121A>G single nucleotide variant not provided [RCV001552108] ChrX:78014874 [GRCh38]
ChrX:77270371 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.*310del deletion not provided [RCV001558577] ChrX:78046871 [GRCh38]
ChrX:77302368 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3294+605C>G single nucleotide variant not provided [RCV001559808] ChrX:78032187 [GRCh38]
ChrX:77287685 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2063G>A (p.Ser688Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV000853193] ChrX:78011565 [GRCh38]
ChrX:77267062 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.963T>C (p.Tyr321=) single nucleotide variant Menkes kinky-hair syndrome [RCV000929597] ChrX:77989585 [GRCh38]
ChrX:77245081 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp) single nucleotide variant Inborn genetic diseases [RCV002416121]|Menkes kinky-hair syndrome [RCV000907741] ChrX:78011456 [GRCh38]
ChrX:77266953 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.209G>A (p.Gly70Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV001510523] ChrX:77988330 [GRCh38]
ChrX:77243826 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.1302A>C (p.Ala434=) single nucleotide variant Menkes kinky-hair syndrome [RCV001404253] ChrX:77989924 [GRCh38]
ChrX:77245420 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2917-9C>T single nucleotide variant Menkes kinky-hair syndrome [RCV001459633] ChrX:78029241 [GRCh38]
ChrX:77284738 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.318A>G (p.Thr106=) single nucleotide variant Menkes kinky-hair syndrome [RCV001427894] ChrX:77988439 [GRCh38]
ChrX:77243935 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2391G>A (p.Leu797=) single nucleotide variant Menkes kinky-hair syndrome [RCV001441810] ChrX:78013097 [GRCh38]
ChrX:77268594 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=) single nucleotide variant Ehlers-Danlos syndrome [RCV002279621]|Menkes kinky-hair syndrome [RCV000901097]|Menkes kinky-hair syndrome [RCV001825813]|not provided [RCV003992419] ChrX:78033790 [GRCh38]
ChrX:77289288 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.3802-9A>G single nucleotide variant Menkes kinky-hair syndrome [RCV000953823] ChrX:78042576 [GRCh38]
ChrX:77298074 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1675G>A (p.Ala559Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV001452541] ChrX:78003204 [GRCh38]
ChrX:77258701 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile) single nucleotide variant Inborn genetic diseases [RCV002391004]|Menkes kinky-hair syndrome [RCV000952590]|Menkes kinky-hair syndrome [RCV001274228]|X-linked distal spinal muscular atrophy type 3 [RCV002546039]|not provided [RCV003438626] ChrX:77998568 [GRCh38]
ChrX:77254065 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2775A>G (p.Thr925=) single nucleotide variant Menkes kinky-hair syndrome [RCV002542268] ChrX:78020392 [GRCh38]
ChrX:77275889 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3786A>G (p.Arg1262=) single nucleotide variant Menkes kinky-hair syndrome [RCV000877634] ChrX:78040718 [GRCh38]
ChrX:77296216 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2277C>G (p.Ala759=) single nucleotide variant Menkes kinky-hair syndrome [RCV001404270] ChrX:78012983 [GRCh38]
ChrX:77268480 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu) single nucleotide variant Inborn genetic diseases [RCV004029587]|Menkes kinky-hair syndrome [RCV000932193]|Menkes kinky-hair syndrome [RCV001274225]|not provided [RCV004704338] ChrX:77988591 [GRCh38]
ChrX:77244087 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4027del (p.Ala1343fs) deletion Menkes kinky-hair syndrome [RCV001049687] ChrX:78043337 [GRCh38]
ChrX:77298835 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys) single nucleotide variant Cutis laxa, X-linked [RCV001559245]|Inborn genetic diseases [RCV002327588]|Menkes kinky-hair syndrome [RCV001243392]|Menkes kinky-hair syndrome [RCV001559244]|X-linked distal spinal muscular atrophy type 3 [RCV001559246] ChrX:78046313 [GRCh38]
ChrX:77301810 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV001217137]|Menkes kinky-hair syndrome [RCV001833889]|not provided [RCV001569797] ChrX:78046335 [GRCh38]
ChrX:77301832 [GRCh37]
ChrX:Xq21.1		 benign|uncertain significance
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met) single nucleotide variant Menkes kinky-hair syndrome [RCV001243858]|Menkes kinky-hair syndrome [RCV001835185]|not provided [RCV001565809]|not specified [RCV003479302] ChrX:77989846 [GRCh38]
ChrX:77245342 [GRCh37]
ChrX:Xq21.1		 benign|uncertain significance
NM_000052.7(ATP7A):c.1583C>G (p.Ala528Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV001237711] ChrX:78003112 [GRCh38]
ChrX:77258609 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3304A>T (p.Thr1102Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV001244182] ChrX:78033614 [GRCh38]
ChrX:77289112 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2627-202C>T single nucleotide variant not provided [RCV001577370] ChrX:78020042 [GRCh38]
ChrX:77275539 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met) single nucleotide variant Inborn genetic diseases [RCV002405249]|Menkes kinky-hair syndrome [RCV001836449]|Menkes kinky-hair syndrome [RCV002569018]|not provided [RCV001563571] ChrX:78003090 [GRCh38]
ChrX:77258587 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3802-302A>G single nucleotide variant not provided [RCV001576473] ChrX:78042283 [GRCh38]
ChrX:77297781 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2626+4del deletion not provided [RCV002464701] ChrX:78015885 [GRCh38]
ChrX:77271382 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2173-24A>G single nucleotide variant not provided [RCV001620403] ChrX:78012855 [GRCh38]
ChrX:77268352 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.97G>C (p.Val33Leu) single nucleotide variant Cutis laxa, X-linked [RCV001559248]|Menkes kinky-hair syndrome [RCV001559247]|X-linked distal spinal muscular atrophy type 3 [RCV001559249] ChrX:77971738 [GRCh38]
ChrX:77227235 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1592G>T (p.Arg531Met) single nucleotide variant Inborn genetic diseases [RCV002405223]|Menkes kinky-hair syndrome [RCV002568199]|not provided [RCV001531793] ChrX:78003121 [GRCh38]
ChrX:77258618 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1544-273AC[21] microsatellite not provided [RCV001661063] ChrX:78002800..78002801 [GRCh38]
ChrX:77258297..77258298 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.*267A>G single nucleotide variant not provided [RCV001693466] ChrX:78046837 [GRCh38]
ChrX:77302334 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.1544-273AC[23] microsatellite not provided [RCV001718480] ChrX:78002799..78002800 [GRCh38]
ChrX:77258296..77258297 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV001050454]|See cases [RCV002252300]|not provided [RCV001535156] ChrX:78038947 [GRCh38]
ChrX:77294445 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val) single nucleotide variant Inborn genetic diseases [RCV002348365]|Menkes kinky-hair syndrome [RCV001043827]|not provided [RCV005001136] ChrX:78040668 [GRCh38]
ChrX:77296166 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1937A>C (p.Glu646Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV001228773] ChrX:78011243 [GRCh38]
ChrX:77266740 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4061G>A (p.Arg1354Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV001034818] ChrX:78043372 [GRCh38]
ChrX:77298870 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2782-253del deletion not provided [RCV001649086] ChrX:78020686 [GRCh38]
ChrX:77276183 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2917-4A>G single nucleotide variant Cutis laxa, X-linked [RCV001542629] ChrX:78029246 [GRCh38]
ChrX:77284743 [GRCh37]
ChrX:Xq21.1		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000052.7(ATP7A):c.2172+117C>G single nucleotide variant not provided [RCV001590198] ChrX:78011791 [GRCh38]
ChrX:77267288 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.120+328G>C single nucleotide variant not provided [RCV001693389] ChrX:77972089 [GRCh38]
ChrX:77227586 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.120+43G>A single nucleotide variant not provided [RCV001709950] ChrX:77971804 [GRCh38]
ChrX:77227301 [GRCh37]
ChrX:Xq21.1		 benign
NC_000023.10:g.(?_77284727)_(77302087_?)dup duplication Menkes kinky-hair syndrome [RCV001033909] ChrX:77284727..77302087 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala) single nucleotide variant Inborn genetic diseases [RCV002379625]|Menkes kinky-hair syndrome [RCV001070428]|Menkes kinky-hair syndrome [RCV001833668]|not provided [RCV004800687] ChrX:77989949 [GRCh38]
ChrX:77245445 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1019C>T (p.Pro340Leu) single nucleotide variant ATP7A-related disorder [RCV003399391]|Menkes kinky-hair syndrome [RCV001836457]|Menkes kinky-hair syndrome [RCV001882701]|not provided [RCV001581620] ChrX:77989641 [GRCh38]
ChrX:77245137 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2406+164A>T single nucleotide variant not provided [RCV001574286] ChrX:78013276 [GRCh38]
ChrX:77268773 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.65G>A (p.Cys22Tyr) single nucleotide variant Menkes kinky-hair syndrome [RCV001208297] ChrX:77971706 [GRCh38]
ChrX:77227203 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77276422)_(77276596_?)del deletion Menkes kinky-hair syndrome [RCV001032406] ChrX:77276422..77276596 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4469dup (p.Asp1491fs) duplication Cutis laxa, X-linked [RCV001196945] ChrX:78046533..78046534 [GRCh38]
ChrX:77302030..77302031 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer) deletion Menkes kinky-hair syndrome [RCV001247321]|Menkes kinky-hair syndrome [RCV005253766] ChrX:77989895 [GRCh38]
ChrX:77245391 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1909T>G (p.Ser637Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV001060526] ChrX:78011215 [GRCh38]
ChrX:77266712 [GRCh37]
ChrX:Xq21.1		 benign|uncertain significance
NM_000052.7(ATP7A):c.4369G>T (p.Val1457Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV001233469]|Menkes kinky-hair syndrome [RCV001834025]|not provided [RCV004774332] ChrX:78046436 [GRCh38]
ChrX:77301933 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.17G>A (p.Gly6Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV001056994] ChrX:77971658 [GRCh38]
ChrX:77227155 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2172+2C>T single nucleotide variant Menkes kinky-hair syndrome [RCV001216502] ChrX:78011676 [GRCh38]
ChrX:77267173 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3529C>T (p.Gln1177Ter) single nucleotide variant not provided [RCV001171640] ChrX:78038853 [GRCh38]
ChrX:77294351 [GRCh37]
ChrX:Xq21.1		 pathogenic
NC_000023.10:g.(?_77243738)_(77302067_?)dup duplication Menkes kinky-hair syndrome [RCV001033797] ChrX:77243738..77302067 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1555A>T (p.Ile519Leu) single nucleotide variant Cutis laxa, X-linked [RCV001198147] ChrX:78003084 [GRCh38]
ChrX:77258581 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2917-13C>A single nucleotide variant Cutis laxa, X-linked [RCV001196121]|Menkes kinky-hair syndrome [RCV003770201] ChrX:78029237 [GRCh38]
ChrX:77284734 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1478A>G (p.Gln493Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV001059430] ChrX:77998619 [GRCh38]
ChrX:77254116 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1313T>C (p.Met438Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV001236422]|not provided [RCV002469357] ChrX:77989935 [GRCh38]
ChrX:77245431 [GRCh37]
ChrX:Xq21.1		 benign|uncertain significance
NM_000052.7(ATP7A):c.514G>A (p.Val172Met) single nucleotide variant Inborn genetic diseases [RCV002339682]|Menkes kinky-hair syndrome [RCV001246132]|Menkes kinky-hair syndrome [RCV001829979]|not provided [RCV003883589] ChrX:77988635 [GRCh38]
ChrX:77244131 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1945_1946+2dup duplication Menkes kinky-hair syndrome [RCV001047286] ChrX:78011250..78011251 [GRCh38]
ChrX:77266747..77266748 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV001215698] ChrX:78038850 [GRCh38]
ChrX:77294348 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1753A>G (p.Ser585Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV001042449] ChrX:78009147 [GRCh38]
ChrX:77264644 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2576A>G (p.Asp859Gly) single nucleotide variant Cutis laxa, X-linked [RCV001194652] ChrX:78015831 [GRCh38]
ChrX:77271328 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1708-264C>A single nucleotide variant not provided [RCV001564735] ChrX:78008838 [GRCh38]
ChrX:77264335 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.488A>G (p.His163Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV001253266]|Menkes kinky-hair syndrome [RCV003770314] ChrX:77988609 [GRCh38]
ChrX:77244105 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3884G>A (p.Arg1295Gln) single nucleotide variant Inborn genetic diseases [RCV005286374]|Intellectual disability [RCV001252422] ChrX:78042667 [GRCh38]
ChrX:77298165 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3479C>T (p.Ser1160Leu) single nucleotide variant Intellectual disability [RCV001252423]|Menkes kinky-hair syndrome [RCV001475478] ChrX:78033789 [GRCh38]
ChrX:77289287 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1946+1G>T single nucleotide variant Cutis laxa, X-linked [RCV001254118]|Menkes kinky-hair syndrome [RCV003311971] ChrX:78011253 [GRCh38]
ChrX:77266750 [GRCh37]
ChrX:Xq21.1		 pathogenic|uncertain significance
NM_000052.7(ATP7A):c.4415G>A (p.Arg1472His) single nucleotide variant Menkes kinky-hair syndrome [RCV001303547]|Menkes kinky-hair syndrome [RCV001835462] ChrX:78046482 [GRCh38]
ChrX:77301979 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1544-273AC[20] microsatellite not provided [RCV001536254] ChrX:78002800..78002803 [GRCh38]
ChrX:77258297..77258300 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.1544-273AC[25] microsatellite not provided [RCV001565473] ChrX:78002799..78002800 [GRCh38]
ChrX:77258296..77258297 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2780A>G (p.Lys927Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV001279991]|Menkes kinky-hair syndrome [RCV001871588] ChrX:78020397 [GRCh38]
ChrX:77275894 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.435A>T (p.Glu145Asp) single nucleotide variant not provided [RCV002284901] ChrX:77988556 [GRCh38]
ChrX:77244052 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3367G>T (p.Val1123Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV001341616] ChrX:78033677 [GRCh38]
ChrX:77289175 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1047T>A (p.Ser349Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003770814]|X-linked distal spinal muscular atrophy type 3 [RCV001328966] ChrX:77989669 [GRCh38]
ChrX:77245165 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3895G>T (p.Val1299Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV001319490]|not provided [RCV001760397] ChrX:78042678 [GRCh38]
ChrX:77298176 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.722A>G (p.Gln241Arg) single nucleotide variant X-linked distal spinal muscular atrophy type 3 [RCV001333162] ChrX:77989344 [GRCh38]
ChrX:77244840 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1252A>T (p.Thr418Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV001349922]|not provided [RCV003438749] ChrX:77989874 [GRCh38]
ChrX:77245370 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2984T>G (p.Val995Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV001340919] ChrX:78029317 [GRCh38]
ChrX:77284814 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1406A>G (p.Glu469Gly) single nucleotide variant Cutis laxa, X-linked [RCV003147615]|Menkes kinky-hair syndrome [RCV001328967]|X-linked distal spinal muscular atrophy type 3 [RCV003147616] ChrX:77998547 [GRCh38]
ChrX:77254044 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1522C>T (p.Arg508Trp) single nucleotide variant Menkes kinky-hair syndrome [RCV001352447]|not provided [RCV004789541] ChrX:77998663 [GRCh38]
ChrX:77254160 [GRCh37]
ChrX:Xq21.1		 benign|uncertain significance
NM_000052.7(ATP7A):c.3055G>A (p.Gly1019Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV001299805]|Menkes kinky-hair syndrome [RCV001830165] ChrX:78029388 [GRCh38]
ChrX:77284885 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3391C>T (p.His1131Tyr) single nucleotide variant Menkes kinky-hair syndrome [RCV001312923] ChrX:78033701 [GRCh38]
ChrX:77289199 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3605T>C (p.Phe1202Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV001319035] ChrX:78038929 [GRCh38]
ChrX:77294427 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1211G>A (p.Gly404Asp) single nucleotide variant not provided [RCV001310738] ChrX:77989833 [GRCh38]
ChrX:77245329 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3791T>C (p.Ile1264Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV001324630] ChrX:78040723 [GRCh38]
ChrX:77296221 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2029C>G (p.His677Asp) single nucleotide variant ATP7A-related disorder [RCV003900487]|Inborn genetic diseases [RCV002420978]|Menkes kinky-hair syndrome [RCV001433581]|not provided [RCV004590442] ChrX:78011531 [GRCh38]
ChrX:77267028 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3812C>T (p.Thr1271Ile) single nucleotide variant Inborn genetic diseases [RCV002538483]|Menkes kinky-hair syndrome [RCV001297192]|not provided [RCV001508052] ChrX:78042595 [GRCh38]
ChrX:77298093 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3179A>G (p.Lys1060Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV001306988] ChrX:78031467 [GRCh38]
ChrX:77286965 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_000052.7(ATP7A):c.1810G>A (p.Ala604Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV001372744]|Menkes kinky-hair syndrome [RCV001831317] ChrX:78009204 [GRCh38]
ChrX:77264701 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1898_1911del (p.Lys633fs) deletion Menkes kinky-hair syndrome [RCV001374410] ChrX:78011199..78011212 [GRCh38]
ChrX:77266696..77266709 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2052T>G (p.Asn684Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV001433626] ChrX:78011554 [GRCh38]
ChrX:77267051 [GRCh37]
ChrX:Xq21.1		 likely benign
NC_000023.10:g.(?_77227108)_(77305902_?)dup duplication Menkes kinky-hair syndrome [RCV001327572] ChrX:77227108..77305902 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4305C>T (p.Ser1435=) single nucleotide variant Menkes kinky-hair syndrome [RCV001414848] ChrX:78046372 [GRCh38]
ChrX:77301869 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1537G>A (p.Glu513Lys) single nucleotide variant Cutis laxa, X-linked [RCV001330730] ChrX:77998678 [GRCh38]
ChrX:77254175 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1707+9G>C single nucleotide variant Menkes kinky-hair syndrome [RCV001392080] ChrX:78003245 [GRCh38]
ChrX:77258742 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2340C>A (p.Phe780Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV001364706] ChrX:78013046 [GRCh38]
ChrX:77268543 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2499-3C>T single nucleotide variant Menkes kinky-hair syndrome [RCV001346421] ChrX:78015751 [GRCh38]
ChrX:77271248 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1876G>C (p.Gly626Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV001312391]|not provided [RCV005057248] ChrX:78011182 [GRCh38]
ChrX:77266679 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3455C>T (p.Ala1152Val) single nucleotide variant ATP7A-related disorder [RCV004743391]|Menkes kinky-hair syndrome [RCV001305655]|Menkes kinky-hair syndrome [RCV001836274] ChrX:78033765 [GRCh38]
ChrX:77289263 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.119A>C (p.Lys40Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV001345021]|Menkes kinky-hair syndrome [RCV001825908] ChrX:77971760 [GRCh38]
ChrX:77227257 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4180G>T (p.Ala1394Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV001323210]|not provided [RCV003442846] ChrX:78045526 [GRCh38]
ChrX:77301023 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3119T>C (p.Val1040Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV001347108] ChrX:78031407 [GRCh38]
ChrX:77286905 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1005A>G (p.Ile335Met) single nucleotide variant Inborn genetic diseases [RCV003382555]|Menkes kinky-hair syndrome [RCV001361388]|not provided [RCV005429341] ChrX:77989627 [GRCh38]
ChrX:77245123 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.467A>T (p.Lys156Met) single nucleotide variant Menkes kinky-hair syndrome [RCV001363153] ChrX:77988588 [GRCh38]
ChrX:77244084 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2373T>G (p.Ile791Met) single nucleotide variant Menkes kinky-hair syndrome [RCV001324316] ChrX:78013079 [GRCh38]
ChrX:77268576 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77276422)_(77276596_?)del deletion Menkes kinky-hair syndrome [RCV001299332] ChrX:77276422..77276596 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.817T>C (p.Tyr273His) single nucleotide variant Menkes kinky-hair syndrome [RCV001324733] ChrX:77989439 [GRCh38]
ChrX:77244935 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.4364G>T (p.Arg1455Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV001323484] ChrX:78046431 [GRCh38]
ChrX:77301928 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.406G>A (p.Ala136Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV001897867]|not provided [RCV003328684] ChrX:77988527 [GRCh38]
ChrX:77244023 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1379A>G (p.Glu460Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV001300885]|Menkes kinky-hair syndrome [RCV001835438] ChrX:77998520 [GRCh38]
ChrX:77254017 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1127C>A (p.Thr376Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV001323502] ChrX:77989749 [GRCh38]
ChrX:77245245 [GRCh37]
ChrX:Xq21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.214G>T (p.Asp72Tyr) single nucleotide variant Menkes kinky-hair syndrome [RCV001321115] ChrX:77988335 [GRCh38]
ChrX:77243831 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77264589)_(77264770_?)dup duplication Menkes kinky-hair syndrome [RCV001343103] ChrX:77264589..77264770 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3592G>A (p.Asp1198Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV001367650]|Menkes kinky-hair syndrome [RCV001826062] ChrX:78038916 [GRCh38]
ChrX:77294414 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1448A>G (p.Glu483Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV001366288]|not provided [RCV003145627] ChrX:77998589 [GRCh38]
ChrX:77254086 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2406G>C (p.Lys802Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV003311976]|not provided [RCV001812938] ChrX:78013112 [GRCh38]
ChrX:77268609 [GRCh37]
ChrX:Xq21.1		 likely pathogenic|uncertain significance
NM_000052.7(ATP7A):c.3326T>C (p.Ile1109Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV001366946]|Menkes kinky-hair syndrome [RCV001826054] ChrX:78033636 [GRCh38]
ChrX:77289134 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2736C>A (p.Thr912=) single nucleotide variant Menkes kinky-hair syndrome [RCV001414187] ChrX:78020353 [GRCh38]
ChrX:77275850 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3103G>A (p.Ala1035Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV001330733]|Menkes kinky-hair syndrome [RCV004727154]|not provided [RCV001508051] ChrX:78029436 [GRCh38]
ChrX:77284933 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.4212T>C (p.Ser1404=) single nucleotide variant Ehlers-Danlos syndrome [RCV002276673]|Menkes kinky-hair syndrome [RCV001277501]|Menkes kinky-hair syndrome [RCV002069400] ChrX:78045558 [GRCh38]
ChrX:77301055 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1377G>A (p.Ser459=) single nucleotide variant Menkes kinky-hair syndrome [RCV001395324] ChrX:77998518 [GRCh38]
ChrX:77254015 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.238C>T (p.Pro80Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV001330732] ChrX:77988359 [GRCh38]
ChrX:77243855 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4213C>T (p.Leu1405Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV001330735] ChrX:78045559 [GRCh38]
ChrX:77301056 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3240T>C (p.Ala1080=) single nucleotide variant Menkes kinky-hair syndrome [RCV001395987] ChrX:78031528 [GRCh38]
ChrX:77287026 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2586T>G (p.Val862=) single nucleotide variant Menkes kinky-hair syndrome [RCV001421335] ChrX:78015841 [GRCh38]
ChrX:77271338 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1416T>C (p.Thr472=) single nucleotide variant Menkes kinky-hair syndrome [RCV001494956] ChrX:77998557 [GRCh38]
ChrX:77254054 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4426A>T (p.Ser1476Cys) single nucleotide variant Menkes kinky-hair syndrome [RCV002564225]|not provided [RCV001508053] ChrX:78046493 [GRCh38]
ChrX:77301990 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1286A>G (p.Glu429Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV001365876] ChrX:77989908 [GRCh38]
ChrX:77245404 [GRCh37]
ChrX:Xq21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.2103G>T (p.Leu701=) single nucleotide variant Menkes kinky-hair syndrome [RCV001395481] ChrX:78011605 [GRCh38]
ChrX:77267102 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.429T>G (p.Val143=) single nucleotide variant Menkes kinky-hair syndrome [RCV001412426] ChrX:77988550 [GRCh38]
ChrX:77244046 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1829C>T (p.Pro610Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV001338453]|not provided [RCV003232315] ChrX:78009223 [GRCh38]
ChrX:77264720 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.828T>C (p.Asp276=) single nucleotide variant Menkes kinky-hair syndrome [RCV001464747] ChrX:77989450 [GRCh38]
ChrX:77244946 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3295-5G>T single nucleotide variant Menkes kinky-hair syndrome [RCV001494483] ChrX:78033600 [GRCh38]
ChrX:77289098 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1920C>T (p.His640=) single nucleotide variant Menkes kinky-hair syndrome [RCV001424488] ChrX:78011226 [GRCh38]
ChrX:77266723 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1461A>C (p.Ser487=) single nucleotide variant Menkes kinky-hair syndrome [RCV001424561] ChrX:77998602 [GRCh38]
ChrX:77254099 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2289_2290insCTAGTTGCAATGTATGAGAGAGCCAAAGTGAACCCTATTACTTTCTTTGACACACCCCCTATGCTGTTTGT (p.Ile764fs) insertion Menkes kinky-hair syndrome [RCV001387085] ChrX:78012994..78012995 [GRCh38]
ChrX:77268491..77268492 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2001G>A (p.Leu667=) single nucleotide variant Menkes kinky-hair syndrome [RCV001416702] ChrX:78011503 [GRCh38]
ChrX:77267000 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2680A>G (p.Ile894Val) single nucleotide variant Menkes kinky-hair syndrome [RCV001469705] ChrX:78020297 [GRCh38]
ChrX:77275794 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4352G>A (p.Gly1451Asp) single nucleotide variant Inborn genetic diseases [RCV002329571]|Menkes kinky-hair syndrome [RCV001475026]|not provided [RCV005232345] ChrX:78046419 [GRCh38]
ChrX:77301916 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2781+8A>T single nucleotide variant Menkes kinky-hair syndrome [RCV001485495] ChrX:78020406 [GRCh38]
ChrX:77275903 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.765A>G (p.Leu255=) single nucleotide variant Menkes kinky-hair syndrome [RCV001513827] ChrX:77989387 [GRCh38]
ChrX:77244883 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.927A>G (p.Val309=) single nucleotide variant Menkes kinky-hair syndrome [RCV001469837] ChrX:77989549 [GRCh38]
ChrX:77245045 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1956G>A (p.Arg652=) single nucleotide variant Menkes kinky-hair syndrome [RCV001499457] ChrX:78011458 [GRCh38]
ChrX:77266955 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2277C>T (p.Ala759=) single nucleotide variant Menkes kinky-hair syndrome [RCV001458002] ChrX:78012983 [GRCh38]
ChrX:77268480 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3883C>A (p.Arg1295=) single nucleotide variant Menkes kinky-hair syndrome [RCV001514183]|Menkes kinky-hair syndrome [RCV001832694] ChrX:78042666 [GRCh38]
ChrX:77298164 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.2079C>G (p.Ile693Met) single nucleotide variant Inborn genetic diseases [RCV002555200]|Menkes kinky-hair syndrome [RCV001436305] ChrX:78011581 [GRCh38]
ChrX:77267078 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.126A>G (p.Ser42=) single nucleotide variant Menkes kinky-hair syndrome [RCV001399903] ChrX:77988247 [GRCh38]
ChrX:77243743 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1772G>A (p.Gly591Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV001491036] ChrX:78009166 [GRCh38]
ChrX:77264663 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2499-10T>C single nucleotide variant Menkes kinky-hair syndrome [RCV001488304] ChrX:78015744 [GRCh38]
ChrX:77271241 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.612C>T (p.Val204=) single nucleotide variant Menkes kinky-hair syndrome [RCV001471184] ChrX:77989234 [GRCh38]
ChrX:77244730 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1290G>A (p.Thr430=) single nucleotide variant Menkes kinky-hair syndrome [RCV001483152] ChrX:77989912 [GRCh38]
ChrX:77245408 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.807G>A (p.Arg269=) single nucleotide variant Menkes kinky-hair syndrome [RCV001474146] ChrX:77989429 [GRCh38]
ChrX:77244925 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1341G>A (p.Thr447=) single nucleotide variant Menkes kinky-hair syndrome [RCV001500544] ChrX:77998482 [GRCh38]
ChrX:77253979 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.493A>G (p.Met165Val) single nucleotide variant Menkes kinky-hair syndrome [RCV001521429] ChrX:77988614 [GRCh38]
ChrX:77244110 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2244A>G (p.Val748=) single nucleotide variant Menkes kinky-hair syndrome [RCV001455400] ChrX:78012950 [GRCh38]
ChrX:77268447 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1816A>G (p.Ile606Val) single nucleotide variant Menkes kinky-hair syndrome [RCV001502953] ChrX:78009210 [GRCh38]
ChrX:77264707 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4206T>C (p.Leu1402=) single nucleotide variant Menkes kinky-hair syndrome [RCV001522052] ChrX:78045552 [GRCh38]
ChrX:77301049 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2454A>C (p.Thr818=) single nucleotide variant Menkes kinky-hair syndrome [RCV001452273] ChrX:78014709 [GRCh38]
ChrX:77270206 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4005+10A>G single nucleotide variant Menkes kinky-hair syndrome [RCV001431284] ChrX:78042798 [GRCh38]
ChrX:77298296 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.150T>A (p.Ile50=) single nucleotide variant Menkes kinky-hair syndrome [RCV001462308] ChrX:77988271 [GRCh38]
ChrX:77243767 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4152G>A (p.Leu1384=) single nucleotide variant Menkes kinky-hair syndrome [RCV001482950] ChrX:78045498 [GRCh38]
ChrX:77300995 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2712A>C (p.Ala904=) single nucleotide variant Menkes kinky-hair syndrome [RCV001492853] ChrX:78020329 [GRCh38]
ChrX:77275826 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2442A>G (p.Ser814=) single nucleotide variant Menkes kinky-hair syndrome [RCV001492907] ChrX:78014697 [GRCh38]
ChrX:77270194 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1731C>T (p.Ser577=) single nucleotide variant Menkes kinky-hair syndrome [RCV001442305] ChrX:78009125 [GRCh38]
ChrX:77264622 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2445A>G (p.Leu815=) single nucleotide variant Menkes kinky-hair syndrome [RCV001463536] ChrX:78014700 [GRCh38]
ChrX:77270197 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1773G>C (p.Gly591=) single nucleotide variant Menkes kinky-hair syndrome [RCV001487227] ChrX:78009167 [GRCh38]
ChrX:77264664 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3237T>G (p.Thr1079=) single nucleotide variant Menkes kinky-hair syndrome [RCV001498232] ChrX:78031525 [GRCh38]
ChrX:77287023 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.714C>A (p.Val238=) single nucleotide variant Menkes kinky-hair syndrome [RCV001426788] ChrX:77989336 [GRCh38]
ChrX:77244832 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2276C>T (p.Ala759Val) single nucleotide variant Menkes kinky-hair syndrome [RCV001423903] ChrX:78012982 [GRCh38]
ChrX:77268479 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3591C>T (p.Asn1197=) single nucleotide variant Menkes kinky-hair syndrome [RCV001463658] ChrX:78038915 [GRCh38]
ChrX:77294413 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1536G>T (p.Arg512=) single nucleotide variant Menkes kinky-hair syndrome [RCV001491969] ChrX:77998677 [GRCh38]
ChrX:77254174 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2916+10T>G single nucleotide variant Menkes kinky-hair syndrome [RCV001456941] ChrX:78021089 [GRCh38]
ChrX:77276586 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1749G>A (p.Glu583=) single nucleotide variant Menkes kinky-hair syndrome [RCV001481539] ChrX:78009143 [GRCh38]
ChrX:77264640 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2505A>G (p.Glu835=) single nucleotide variant Menkes kinky-hair syndrome [RCV001493453] ChrX:78015760 [GRCh38]
ChrX:77271257 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3511+9A>T single nucleotide variant Menkes kinky-hair syndrome [RCV001416420] ChrX:78033830 [GRCh38]
ChrX:77289328 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4311T>C (p.His1437=) single nucleotide variant Menkes kinky-hair syndrome [RCV001460217] ChrX:78046378 [GRCh38]
ChrX:77301875 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2460A>T (p.Ala820=) single nucleotide variant Menkes kinky-hair syndrome [RCV001424248] ChrX:78014715 [GRCh38]
ChrX:77270212 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2595A>G (p.Gly865=) single nucleotide variant Menkes kinky-hair syndrome [RCV001463982] ChrX:78015850 [GRCh38]
ChrX:77271347 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2808A>G (p.Lys936=) single nucleotide variant Menkes kinky-hair syndrome [RCV001472695] ChrX:78020971 [GRCh38]
ChrX:77276468 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3168G>A (p.Val1056=) single nucleotide variant Menkes kinky-hair syndrome [RCV001474862] ChrX:78031456 [GRCh38]
ChrX:77286954 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.255T>C (p.Thr85=) single nucleotide variant Menkes kinky-hair syndrome [RCV001420054] ChrX:77988376 [GRCh38]
ChrX:77243872 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4332A>G (p.Ser1444=) single nucleotide variant Menkes kinky-hair syndrome [RCV001394170] ChrX:78046399 [GRCh38]
ChrX:77301896 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1455G>T (p.Lys485Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV001400749] ChrX:77998596 [GRCh38]
ChrX:77254093 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2661C>T (p.Ser887=) single nucleotide variant Menkes kinky-hair syndrome [RCV001443751] ChrX:78020278 [GRCh38]
ChrX:77275775 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3512-6T>C single nucleotide variant Menkes kinky-hair syndrome [RCV001432538] ChrX:78038830 [GRCh38]
ChrX:77294328 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3957C>T (p.Gly1319=) single nucleotide variant Menkes kinky-hair syndrome [RCV001441344]|Menkes kinky-hair syndrome [RCV001826259] ChrX:78042740 [GRCh38]
ChrX:77298238 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2919C>G (p.Gly973=) single nucleotide variant Menkes kinky-hair syndrome [RCV001400918] ChrX:78029252 [GRCh38]
ChrX:77284749 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3939T>C (p.Asn1313=) single nucleotide variant Menkes kinky-hair syndrome [RCV001409734] ChrX:78042722 [GRCh38]
ChrX:77298220 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.159C>T (p.Asp53=) single nucleotide variant Menkes kinky-hair syndrome [RCV001410055] ChrX:77988280 [GRCh38]
ChrX:77243776 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2655T>C (p.Pro885=) single nucleotide variant Menkes kinky-hair syndrome [RCV001428967] ChrX:78020272 [GRCh38]
ChrX:77275769 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3048A>T (p.Thr1016=) single nucleotide variant Menkes kinky-hair syndrome [RCV001407634] ChrX:78029381 [GRCh38]
ChrX:77284878 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2032T>C (p.Phe678Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV001424970] ChrX:78011534 [GRCh38]
ChrX:77267031 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.498T>C (p.Ala166=) single nucleotide variant Menkes kinky-hair syndrome [RCV001407549]|not specified [RCV005237788] ChrX:77988619 [GRCh38]
ChrX:77244115 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3498T>C (p.Asp1166=) single nucleotide variant Menkes kinky-hair syndrome [RCV001425798] ChrX:78033808 [GRCh38]
ChrX:77289306 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1947-9C>T single nucleotide variant Menkes kinky-hair syndrome [RCV001405325] ChrX:78011440 [GRCh38]
ChrX:77266937 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1544-273AC[19] microsatellite not provided [RCV001541688] ChrX:78002800..78002805 [GRCh38]
ChrX:77258297..77258302 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.1602T>C (p.Pro534=) single nucleotide variant Menkes kinky-hair syndrome [RCV001397923] ChrX:78003131 [GRCh38]
ChrX:77258628 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4062G>A (p.Arg1354=) single nucleotide variant Menkes kinky-hair syndrome [RCV001410200] ChrX:78043373 [GRCh38]
ChrX:77298871 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2172+8A>C single nucleotide variant Menkes kinky-hair syndrome [RCV001449507] ChrX:78011682 [GRCh38]
ChrX:77267179 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2917-7T>C single nucleotide variant Menkes kinky-hair syndrome [RCV001444542] ChrX:78029243 [GRCh38]
ChrX:77284740 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4263T>C (p.Pro1421=) single nucleotide variant Menkes kinky-hair syndrome [RCV001407787] ChrX:78046330 [GRCh38]
ChrX:77301827 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2691C>T (p.Asn897=) single nucleotide variant Menkes kinky-hair syndrome [RCV001428786] ChrX:78020308 [GRCh38]
ChrX:77275805 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1350G>T (p.Pro450=) single nucleotide variant Menkes kinky-hair syndrome [RCV001428788] ChrX:77998491 [GRCh38]
ChrX:77253988 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2697A>G (p.Ser899=) single nucleotide variant Menkes kinky-hair syndrome [RCV001393412] ChrX:78020314 [GRCh38]
ChrX:77275811 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1869+7G>T single nucleotide variant Menkes kinky-hair syndrome [RCV001403844] ChrX:78009270 [GRCh38]
ChrX:77264767 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2565A>G (p.Lys855=) single nucleotide variant Menkes kinky-hair syndrome [RCV001434394]|not provided [RCV004584904] ChrX:78015820 [GRCh38]
ChrX:77271317 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2319C>A (p.Ala773=) single nucleotide variant Menkes kinky-hair syndrome [RCV001444987] ChrX:78013025 [GRCh38]
ChrX:77268522 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1386G>A (p.Pro462=) single nucleotide variant Menkes kinky-hair syndrome [RCV001408321]|Menkes kinky-hair syndrome [RCV001826210]|not provided [RCV001560237] ChrX:77998527 [GRCh38]
ChrX:77254024 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4149T>A (p.Val1383=) single nucleotide variant Menkes kinky-hair syndrome [RCV001427154] ChrX:78045495 [GRCh38]
ChrX:77300992 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1581G>A (p.Lys527=) single nucleotide variant Menkes kinky-hair syndrome [RCV001428272] ChrX:78003110 [GRCh38]
ChrX:77258607 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.831A>T (p.Ser277=) single nucleotide variant Menkes kinky-hair syndrome [RCV001408487] ChrX:77989453 [GRCh38]
ChrX:77244949 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2626+8C>T single nucleotide variant Menkes kinky-hair syndrome [RCV001447669] ChrX:78015889 [GRCh38]
ChrX:77271386 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2790C>A (p.Ile930=) single nucleotide variant Menkes kinky-hair syndrome [RCV001429367] ChrX:78020953 [GRCh38]
ChrX:77276450 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.532G>A (p.Glu178Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV001448027] ChrX:77988653 [GRCh38]
ChrX:77244149 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1947-7A>G single nucleotide variant Menkes kinky-hair syndrome [RCV001408547] ChrX:78011442 [GRCh38]
ChrX:77266939 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.330C>A (p.Thr110=) single nucleotide variant Menkes kinky-hair syndrome [RCV001427173] ChrX:77988451 [GRCh38]
ChrX:77243947 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4176A>G (p.Ala1392=) single nucleotide variant Menkes kinky-hair syndrome [RCV001427225] ChrX:78045522 [GRCh38]
ChrX:77301019 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1506T>C (p.Cys502=) single nucleotide variant Menkes kinky-hair syndrome [RCV001419487] ChrX:77998647 [GRCh38]
ChrX:77254144 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2407-4A>G single nucleotide variant Menkes kinky-hair syndrome [RCV001438154] ChrX:78014658 [GRCh38]
ChrX:77270155 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3864A>G (p.Gln1288=) single nucleotide variant Menkes kinky-hair syndrome [RCV001406155] ChrX:78042647 [GRCh38]
ChrX:77298145 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2107C>T (p.Arg703Cys) single nucleotide variant Menkes kinky-hair syndrome [RCV001411266] ChrX:78011609 [GRCh38]
ChrX:77267106 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4348C>T (p.Leu1450=) single nucleotide variant Menkes kinky-hair syndrome [RCV001398635] ChrX:78046415 [GRCh38]
ChrX:77301912 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.534A>G (p.Glu178=) single nucleotide variant Menkes kinky-hair syndrome [RCV001445704] ChrX:77988655 [GRCh38]
ChrX:77244151 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.961T>C (p.Tyr321His) single nucleotide variant not provided [RCV001579855] ChrX:77989583 [GRCh38]
ChrX:77245079 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2715A>T (p.Thr905=) single nucleotide variant Menkes kinky-hair syndrome [RCV001409180] ChrX:78020332 [GRCh38]
ChrX:77275829 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1191T>A (p.Gly397=) single nucleotide variant Menkes kinky-hair syndrome [RCV001411574] ChrX:77989813 [GRCh38]
ChrX:77245309 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.984A>G (p.Pro328=) single nucleotide variant Menkes kinky-hair syndrome [RCV001448389] ChrX:77989606 [GRCh38]
ChrX:77245102 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1708-9C>G single nucleotide variant Menkes kinky-hair syndrome [RCV001432491] ChrX:78009093 [GRCh38]
ChrX:77264590 [GRCh37]
ChrX:Xq21.1		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000052.7(ATP7A):c.1533G>T (p.Arg511Ser) single nucleotide variant not provided [RCV001508047] ChrX:77998674 [GRCh38]
ChrX:77254171 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2963C>T (p.Ala988Val) single nucleotide variant not provided [RCV001508050] ChrX:78029296 [GRCh38]
ChrX:77284793 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1326T>C (p.Ala442=) single nucleotide variant Menkes kinky-hair syndrome [RCV001506008]|not provided [RCV003438844] ChrX:77989948 [GRCh38]
ChrX:77245444 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2830T>C (p.Phe944Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV001514748] ChrX:78020993 [GRCh38]
ChrX:77276490 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.4071A>C (p.Ile1357=) single nucleotide variant Menkes kinky-hair syndrome [RCV001479135] ChrX:78043382 [GRCh38]
ChrX:77298880 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1543+240dup duplication not provided [RCV001587989] ChrX:77998915..77998916 [GRCh38]
ChrX:77254412..77254413 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.843C>A (p.Phe281Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV001865932]|not provided [RCV001508044] ChrX:77989465 [GRCh38]
ChrX:77244961 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.4182T>A (p.Ala1394=) single nucleotide variant Menkes kinky-hair syndrome [RCV001462007] ChrX:78045528 [GRCh38]
ChrX:77301025 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.531G>A (p.Val177=) single nucleotide variant Menkes kinky-hair syndrome [RCV001473500] ChrX:77988652 [GRCh38]
ChrX:77244148 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1182T>C (p.Ser394=) single nucleotide variant Menkes kinky-hair syndrome [RCV001454595] ChrX:77989804 [GRCh38]
ChrX:77245300 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.*208A>G single nucleotide variant not provided [RCV001707226] ChrX:78046778 [GRCh38]
ChrX:77302275 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.4497A>C (p.Ala1499=) single nucleotide variant Menkes kinky-hair syndrome [RCV001469341]|Menkes kinky-hair syndrome [RCV001832613] ChrX:78046564 [GRCh38]
ChrX:77302061 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2385A>G (p.Arg795=) single nucleotide variant Menkes kinky-hair syndrome [RCV001496877] ChrX:78013091 [GRCh38]
ChrX:77268588 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3969T>C (p.Asp1323=) single nucleotide variant Menkes kinky-hair syndrome [RCV001496977]|not provided [RCV003458064] ChrX:78042752 [GRCh38]
ChrX:77298250 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1544-7C>T single nucleotide variant Menkes kinky-hair syndrome [RCV001466108] ChrX:78003066 [GRCh38]
ChrX:77258563 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.39T>C (p.Ser13=) single nucleotide variant Menkes kinky-hair syndrome [RCV001483576] ChrX:77971680 [GRCh38]
ChrX:77227177 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3659-42= single nucleotide variant not provided [RCV001715618] ChrX:78040549 [GRCh38]
ChrX:77296047 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.1941A>G (p.Ile647Met) single nucleotide variant Menkes kinky-hair syndrome [RCV001512643] ChrX:78011247 [GRCh38]
ChrX:77266744 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.3045T>C (p.Gly1015=) single nucleotide variant Menkes kinky-hair syndrome [RCV001487769] ChrX:78029378 [GRCh38]
ChrX:77284875 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1544-273AC[24] microsatellite not provided [RCV001589849] ChrX:78002799..78002800 [GRCh38]
ChrX:77258296..77258297 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.933T>C (p.Ser311=) single nucleotide variant Menkes kinky-hair syndrome [RCV001466791] ChrX:77989555 [GRCh38]
ChrX:77245051 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4449C>T (p.Asp1483=) single nucleotide variant Menkes kinky-hair syndrome [RCV001466894] ChrX:78046516 [GRCh38]
ChrX:77302013 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.824A>G (p.Asn275Ser) single nucleotide variant Inborn genetic diseases [RCV002432289]|Menkes kinky-hair syndrome [RCV001460831]|not provided [RCV004779124] ChrX:77989446 [GRCh38]
ChrX:77244942 [GRCh37]
ChrX:Xq21.1		 benign|likely benign|uncertain significance
NM_000052.7(ATP7A):c.261C>G (p.Thr87=) single nucleotide variant Menkes kinky-hair syndrome [RCV001488554] ChrX:77988382 [GRCh38]
ChrX:77243878 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2173-269del deletion not provided [RCV001674495] ChrX:78012591 [GRCh38]
ChrX:77268088 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.3699G>A (p.Lys1233=) single nucleotide variant Menkes kinky-hair syndrome [RCV001464287] ChrX:78040631 [GRCh38]
ChrX:77296129 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.57C>T (p.Cys19=) single nucleotide variant Menkes kinky-hair syndrome [RCV001399480] ChrX:77971698 [GRCh38]
ChrX:77227195 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=) single nucleotide variant Menkes kinky-hair syndrome [RCV001520175]|Menkes kinky-hair syndrome [RCV001832710] ChrX:78020290 [GRCh38]
ChrX:77275787 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.1497C>T (p.Cys499=) single nucleotide variant Menkes kinky-hair syndrome [RCV001465446] ChrX:77998638 [GRCh38]
ChrX:77254135 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1137T>C (p.Thr379=) single nucleotide variant Menkes kinky-hair syndrome [RCV001504520] ChrX:77989759 [GRCh38]
ChrX:77245255 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.840T>G (p.Thr280=) single nucleotide variant Menkes kinky-hair syndrome [RCV001468405] ChrX:77989462 [GRCh38]
ChrX:77244958 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.81G>A (p.Glu27=) single nucleotide variant Menkes kinky-hair syndrome [RCV001401315] ChrX:77971722 [GRCh38]
ChrX:77227219 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2619C>T (p.Leu873=) single nucleotide variant Menkes kinky-hair syndrome [RCV001495817] ChrX:78015874 [GRCh38]
ChrX:77271371 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1023G>C (p.Gly341=) single nucleotide variant Menkes kinky-hair syndrome [RCV001479876] ChrX:77989645 [GRCh38]
ChrX:77245141 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4306G>A (p.Val1436Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV001519234] ChrX:78046373 [GRCh38]
ChrX:77301870 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.1209A>G (p.Pro403=) single nucleotide variant Menkes kinky-hair syndrome [RCV001520580] ChrX:77989831 [GRCh38]
ChrX:77245327 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2143C>T (p.Leu715=) single nucleotide variant Menkes kinky-hair syndrome [RCV001467267] ChrX:78011645 [GRCh38]
ChrX:77267142 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3462T>C (p.Asn1154=) single nucleotide variant Menkes kinky-hair syndrome [RCV001470414] ChrX:78033772 [GRCh38]
ChrX:77289270 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1946+10T>G single nucleotide variant Menkes kinky-hair syndrome [RCV001470428] ChrX:78011262 [GRCh38]
ChrX:77266759 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1590A>G (p.Val530=) single nucleotide variant Menkes kinky-hair syndrome [RCV001478300] ChrX:78003119 [GRCh38]
ChrX:77258616 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.21G>C (p.Val7=) single nucleotide variant Menkes kinky-hair syndrome [RCV001453193] ChrX:77971662 [GRCh38]
ChrX:77227159 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4350G>T (p.Leu1450=) single nucleotide variant Menkes kinky-hair syndrome [RCV001481570] ChrX:78046417 [GRCh38]
ChrX:77301914 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2698C>T (p.Leu900=) single nucleotide variant Menkes kinky-hair syndrome [RCV001465664] ChrX:78020315 [GRCh38]
ChrX:77275812 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1869+7G>A single nucleotide variant Menkes kinky-hair syndrome [RCV001470876] ChrX:78009270 [GRCh38]
ChrX:77264767 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2160T>C (p.Cys720=) single nucleotide variant Menkes kinky-hair syndrome [RCV001473891] ChrX:78011662 [GRCh38]
ChrX:77267159 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3198C>T (p.Asn1066=) single nucleotide variant Menkes kinky-hair syndrome [RCV001473944] ChrX:78031486 [GRCh38]
ChrX:77286984 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1429C>T (p.Pro477Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV001498608] ChrX:77998570 [GRCh38]
ChrX:77254067 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2172+8_2172+12dup duplication Menkes kinky-hair syndrome [RCV001513386] ChrX:78011679..78011680 [GRCh38]
ChrX:77267176..77267177 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.849T>C (p.Ile283=) single nucleotide variant Menkes kinky-hair syndrome [RCV001513417] ChrX:77989471 [GRCh38]
ChrX:77244967 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2657G>A (p.Gly886Asp) single nucleotide variant Inborn genetic diseases [RCV002458499]|Menkes kinky-hair syndrome [RCV001516734] ChrX:78020274 [GRCh38]
ChrX:77275771 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.1735G>A (p.Val579Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV001516799] ChrX:78009129 [GRCh38]
ChrX:77264626 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.528A>G (p.Lys176=) single nucleotide variant Menkes kinky-hair syndrome [RCV001440111] ChrX:77988649 [GRCh38]
ChrX:77244145 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.186A>G (p.Leu62=) single nucleotide variant Menkes kinky-hair syndrome [RCV001483135] ChrX:77988307 [GRCh38]
ChrX:77243803 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2178C>T (p.Phe726=) single nucleotide variant Menkes kinky-hair syndrome [RCV001452968] ChrX:78012884 [GRCh38]
ChrX:77268381 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4308T>C (p.Val1436=) single nucleotide variant Menkes kinky-hair syndrome [RCV001443074] ChrX:78046375 [GRCh38]
ChrX:77301872 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2907C>G (p.Thr969=) single nucleotide variant Menkes kinky-hair syndrome [RCV001510584] ChrX:78021070 [GRCh38]
ChrX:77276567 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV001519156]|not provided [RCV005256818] ChrX:78011613 [GRCh38]
ChrX:77267110 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.2782-8A>C single nucleotide variant Menkes kinky-hair syndrome [RCV001482434] ChrX:78020937 [GRCh38]
ChrX:77276434 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1176G>A (p.Val392=) single nucleotide variant Menkes kinky-hair syndrome [RCV001484963] ChrX:77989798 [GRCh38]
ChrX:77245294 [GRCh37]
ChrX:Xq21.1		 likely benign
NC_000023.10:g.(?_77227108)_(77258743_?)del deletion Menkes kinky-hair syndrome [RCV001386932] ChrX:77227108..77258743 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3515C>T (p.Ala1172Val) single nucleotide variant Menkes kinky-hair syndrome [RCV001498080] ChrX:78038839 [GRCh38]
ChrX:77294337 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2254C>G (p.Leu752Val) single nucleotide variant Menkes kinky-hair syndrome [RCV001425335] ChrX:78012960 [GRCh38]
ChrX:77268457 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2265C>T (p.Thr755=) single nucleotide variant Menkes kinky-hair syndrome [RCV001406777] ChrX:78012971 [GRCh38]
ChrX:77268468 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2892T>C (p.Phe964=) single nucleotide variant Menkes kinky-hair syndrome [RCV001514676] ChrX:78021055 [GRCh38]
ChrX:77276552 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2173-7A>T single nucleotide variant Menkes kinky-hair syndrome [RCV001467780] ChrX:78012872 [GRCh38]
ChrX:77268369 [GRCh37]
ChrX:Xq21.1		 likely benign
NC_000023.10:g.(?_77270139)_(77271398_?)del deletion Menkes kinky-hair syndrome [RCV001386931] ChrX:77270139..77271398 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.168A>G (p.Leu56=) single nucleotide variant Menkes kinky-hair syndrome [RCV001500781] ChrX:77988289 [GRCh38]
ChrX:77243785 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1074C>T (p.Pro358=) single nucleotide variant Menkes kinky-hair syndrome [RCV001425878] ChrX:77989696 [GRCh38]
ChrX:77245192 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1834A>G (p.Ile612Val) single nucleotide variant Menkes kinky-hair syndrome [RCV001505531]|not provided [RCV005411763] ChrX:78009228 [GRCh38]
ChrX:77264725 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1688A>T (p.Asp563Val) single nucleotide variant Menkes kinky-hair syndrome [RCV001485358] ChrX:78003217 [GRCh38]
ChrX:77258714 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2359C>T (p.Leu787=) single nucleotide variant Menkes kinky-hair syndrome [RCV001434953] ChrX:78013065 [GRCh38]
ChrX:77268562 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3754C>T (p.Leu1252=) single nucleotide variant Menkes kinky-hair syndrome [RCV001501213] ChrX:78040686 [GRCh38]
ChrX:77296184 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2498+113A>G single nucleotide variant not provided [RCV001538674] ChrX:78014866 [GRCh38]
ChrX:77270363 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4038C>A (p.Asp1346Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV001398981] ChrX:78043349 [GRCh38]
ChrX:77298847 [GRCh37]
ChrX:Xq21.1		 likely benign
NC_000023.10:g.(?_77227139)_(77381327_?)dup duplication Menkes kinky-hair syndrome [RCV003119184]|not provided [RCV003109221] ChrX:77227139..77381327 [GRCh37]
ChrX:Xq21.1		 uncertain significance|no classifications from unflagged records
NC_000023.10:g.(?_76888675)_(77264780_?)dup duplication Alpha thalassemia-X-linked intellectual disability syndrome [RCV003109222]|Menkes kinky-hair syndrome [RCV003119190] ChrX:76888675..77264780 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4391T>A (p.Ile1464Lys) single nucleotide variant not provided [RCV002244418] ChrX:78046458 [GRCh38]
ChrX:77301955 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.617T>G (p.Leu206Arg) single nucleotide variant ATP7A-realted disorder [RCV002245273]|ATP7A-related disorder [RCV004744332]|Inborn genetic diseases [RCV002352959]|Menkes kinky-hair syndrome [RCV003093956]|Menkes kinky-hair syndrome [RCV005256857] ChrX:77989239 [GRCh38]
ChrX:77244735 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1174_1180del (p.Val392fs) deletion Menkes kinky-hair syndrome [RCV005247924] ChrX:77989794..77989800 [GRCh38]
ChrX:77245290..77245296 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2313G>C (p.Glu771Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV003771984]|not provided [RCV001754856] ChrX:78013019 [GRCh38]
ChrX:77268516 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1329del (p.Leu444fs) deletion Menkes kinky-hair syndrome [RCV002238610] ChrX:77989950 [GRCh38]
ChrX:77245446 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2096T>A (p.Met699Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV005227562]|X-linked distal spinal muscular atrophy type 3 [RCV002272892] ChrX:78011598 [GRCh38]
ChrX:77267095 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3077T>C (p.Ile1026Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV005213569]|not provided [RCV001760784] ChrX:78029410 [GRCh38]
ChrX:77284907 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1668_1680del (p.Ile556fs) deletion X-linked distal spinal muscular atrophy type 3 [RCV002249287] ChrX:78003193..78003205 [GRCh38]
ChrX:77258690..77258702 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3659-1G>A single nucleotide variant X-linked distal spinal muscular atrophy type 3 [RCV002249288] ChrX:78040590 [GRCh38]
ChrX:77296088 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.4006-11T>A single nucleotide variant Menkes kinky-hair syndrome [RCV002538772]|not provided [RCV001752201] ChrX:78043306 [GRCh38]
ChrX:77298804 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2287A>G (p.Ile763Val) single nucleotide variant Inborn genetic diseases [RCV003164367]|Menkes kinky-hair syndrome [RCV003774800]|not provided [RCV002259442] ChrX:78012993 [GRCh38]
ChrX:77268490 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1795C>G (p.Leu599Val) single nucleotide variant Menkes kinky-hair syndrome [RCV001861091]|not provided [RCV001766971] ChrX:78009189 [GRCh38]
ChrX:77264686 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1570A>G (p.Met524Val) single nucleotide variant not provided [RCV001754710] ChrX:78003099 [GRCh38]
ChrX:77258596 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2219A>G (p.Lys740Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV002540326]|not provided [RCV001772700] ChrX:78012925 [GRCh38]
ChrX:77268422 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2540T>C (p.Ile847Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV005213583]|not provided [RCV001771374] ChrX:78015795 [GRCh38]
ChrX:77271292 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3028_3038delinsGTGGCTGTGGA (p.Thr1010_Met1013delinsValAlaValGlu) indel not provided [RCV001762958] ChrX:78029361..78029371 [GRCh38]
ChrX:77284858..77284868 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2669T>C (p.Ile890Thr) single nucleotide variant not provided [RCV001767704] ChrX:78020286 [GRCh38]
ChrX:77275783 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4261C>T (p.Pro1421Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV001801276] ChrX:78046328 [GRCh38]
ChrX:77301825 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1486G>T (p.Gly496Cys) single nucleotide variant not provided [RCV001772729] ChrX:77998627 [GRCh38]
ChrX:77254124 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.905T>G (p.Leu302Arg) single nucleotide variant not provided [RCV001766035] ChrX:77989527 [GRCh38]
ChrX:77245023 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4058A>G (p.Lys1353Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003107841]|not provided [RCV001766948] ChrX:78043369 [GRCh38]
ChrX:77298867 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1903G>A (p.Asp635Asn) single nucleotide variant not provided [RCV001769075] ChrX:78011209 [GRCh38]
ChrX:77266706 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2557G>T (p.Gly853Ter) single nucleotide variant Cutis laxa, X-linked [RCV001775413] ChrX:78015812 [GRCh38]
ChrX:77271309 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2551G>A (p.Val851Ile) single nucleotide variant not provided [RCV001752371] ChrX:78015806 [GRCh38]
ChrX:77271303 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2161G>A (p.Val721Ile) single nucleotide variant not provided [RCV001794585] ChrX:78011663 [GRCh38]
ChrX:77267160 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NM_000052.7(ATP7A):c.1867G>A (p.Glu623Lys) single nucleotide variant not provided [RCV001794851] ChrX:78009261 [GRCh38]
ChrX:77264758 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val) single nucleotide variant Menkes kinky-hair syndrome [RCV002544302]|not provided [RCV001786873] ChrX:77998615 [GRCh38]
ChrX:77254112 [GRCh37]
ChrX:Xq21.1		 benign|uncertain significance
NM_000052.7(ATP7A):c.3980A>G (p.Glu1327Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV001797041] ChrX:78042763 [GRCh38]
ChrX:77298261 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4227-1G>A single nucleotide variant Menkes kinky-hair syndrome [RCV002543931]|not provided [RCV001754298]|not specified [RCV001797849] ChrX:78046293 [GRCh38]
ChrX:77301790 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2761G>C (p.Glu921Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV001809263]|Menkes kinky-hair syndrome [RCV001885292] ChrX:78020378 [GRCh38]
ChrX:77275875 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4085C>T (p.Ala1362Val) single nucleotide variant Menkes kinky-hair syndrome [RCV001805754] ChrX:78043396 [GRCh38]
ChrX:77298894 [GRCh37]
ChrX:Xq21.1		 pathogenic|likely pathogenic
NM_001029891.3(PGAM4):c.114G>A (p.Ala38=) single nucleotide variant not provided [RCV004809283] ChrX:77969525 [GRCh38]
ChrX:77225022 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2626+16G>A single nucleotide variant Menkes kinky-hair syndrome [RCV002009072] ChrX:78015897 [GRCh38]
ChrX:77271394 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1793C>T (p.Ala598Val) single nucleotide variant Menkes kinky-hair syndrome [RCV001971790] ChrX:78009187 [GRCh38]
ChrX:77264684 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3781G>T (p.Ala1261Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV002009339] ChrX:78040713 [GRCh38]
ChrX:77296211 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.257A>G (p.Asp86Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV001988821] ChrX:77988378 [GRCh38]
ChrX:77243874 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77275721)_(77279056_?)del deletion Menkes kinky-hair syndrome [RCV001949603] ChrX:77275721..77279056 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2626+5G>T single nucleotide variant Menkes kinky-hair syndrome [RCV001971287] ChrX:78015886 [GRCh38]
ChrX:77271383 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1414A>G (p.Thr472Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV001896280] ChrX:77998555 [GRCh38]
ChrX:77254052 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.410A>G (p.Asn137Ser) single nucleotide variant Inborn genetic diseases [RCV005288564]|Menkes kinky-hair syndrome [RCV001873966] ChrX:77988531 [GRCh38]
ChrX:77244027 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2846C>A (p.Ser949Tyr) single nucleotide variant Menkes kinky-hair syndrome [RCV002006873] ChrX:78021009 [GRCh38]
ChrX:77276506 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77227129)_(77302077_?)dup duplication Menkes kinky-hair syndrome [RCV002008433] ChrX:77227129..77302077 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1902G>A (p.Lys634=) single nucleotide variant Menkes kinky-hair syndrome [RCV001895580] ChrX:78011208 [GRCh38]
ChrX:77266705 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.260C>T (p.Thr87Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV001927905] ChrX:77988381 [GRCh38]
ChrX:77243877 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000052.7(ATP7A):c.3595G>A (p.Val1199Ile) single nucleotide variant Inborn genetic diseases [RCV002458720]|Menkes kinky-hair syndrome [RCV001892794] ChrX:78038919 [GRCh38]
ChrX:77294417 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1172G>C (p.Cys391Ser) single nucleotide variant Au-Kline syndrome [RCV003330103]|Menkes kinky-hair syndrome [RCV001946516] ChrX:77989794 [GRCh38]
ChrX:77245290 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4225C>A (p.Leu1409Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV001892957] ChrX:78045571 [GRCh38]
ChrX:77301068 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3942G>A (p.Val1314=) single nucleotide variant Menkes kinky-hair syndrome [RCV001890872] ChrX:78042725 [GRCh38]
ChrX:77298223 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1947-3A>G single nucleotide variant Menkes kinky-hair syndrome [RCV001984929] ChrX:78011446 [GRCh38]
ChrX:77266943 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NC_000023.10:g.(?_77275721)_(77381327_?)dup duplication Menkes kinky-hair syndrome [RCV001909608] ChrX:77275721..77381327 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4210T>G (p.Ser1404Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV001968150] ChrX:78045556 [GRCh38]
ChrX:77301053 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671) copy number gain not specified [RCV002053136] ChrX:61974855..79123671 [GRCh37]
ChrX:Xq11.1-21.1		 pathogenic
GRCh37/hg19 Xq21.1(chrX:77212971-77537309) copy number gain not specified [RCV002053151] ChrX:77212971..77537309 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.748A>G (p.Ile250Val) single nucleotide variant Menkes kinky-hair syndrome [RCV001949438] ChrX:77989370 [GRCh38]
ChrX:77244866 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV002044567] ChrX:78012892 [GRCh38]
ChrX:77268389 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1681G>C (p.Glu561Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV001945111] ChrX:78003210 [GRCh38]
ChrX:77258707 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3346G>A (p.Gly1116Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV002040693] ChrX:78033656 [GRCh38]
ChrX:77289154 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1730C>T (p.Ser577Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV002040679] ChrX:78009124 [GRCh38]
ChrX:77264621 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4267C>G (p.Arg1423Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV002044374] ChrX:78046334 [GRCh38]
ChrX:77301831 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4288A>G (p.Ser1430Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV002021173] ChrX:78046355 [GRCh38]
ChrX:77301852 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh38/hg38 Xq21.1(chrX:77914739-77914775) copy number loss Diaphragmatic hernia [RCV001823063] ChrX:77914739..77914775 [GRCh38]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2149T>C (p.Phe717Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV001911777] ChrX:78011651 [GRCh38]
ChrX:77267148 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671) copy number gain not specified [RCV002053135] ChrX:61877278..79123671 [GRCh37]
ChrX:Xq11.1-21.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000052.7(ATP7A):c.611-5A>G single nucleotide variant Menkes kinky-hair syndrome [RCV002003942] ChrX:77989228 [GRCh38]
ChrX:77244724 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3269C>T (p.Thr1090Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV001985176] ChrX:78031557 [GRCh38]
ChrX:77287055 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xq13.2-21.31(chrX:72095006-88455505) copy number gain not specified [RCV002053147] ChrX:72095006..88455505 [GRCh37]
ChrX:Xq13.2-21.31		 uncertain significance
GRCh37/hg19 Xq21.1(chrX:77098874-77442894) copy number gain not specified [RCV002053149] ChrX:77098874..77442894 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77275731)_(77302067_?)dup duplication Menkes kinky-hair syndrome [RCV002040747] ChrX:77275731..77302067 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1777C>G (p.Leu593Val) single nucleotide variant Menkes kinky-hair syndrome [RCV002011590] ChrX:78009171 [GRCh38]
ChrX:77264668 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1106A>G (p.Asn369Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV001887486]|not provided [RCV002469424] ChrX:77989728 [GRCh38]
ChrX:77245224 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.4300A>C (p.Ile1434Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV001944476] ChrX:78046367 [GRCh38]
ChrX:77301864 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.807G>T (p.Arg269Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV002030912] ChrX:77989429 [GRCh38]
ChrX:77244925 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3396G>T (p.Lys1132Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV001938401] ChrX:78033706 [GRCh38]
ChrX:77289204 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NC_000023.10:g.(?_77243718)_(77245474_?)del deletion Menkes kinky-hair syndrome [RCV001942692] ChrX:77243718..77245474 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3262C>G (p.Leu1088Val) single nucleotide variant Menkes kinky-hair syndrome [RCV001999872] ChrX:78031550 [GRCh38]
ChrX:77287048 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2172+5G>A single nucleotide variant Menkes kinky-hair syndrome [RCV002049796] ChrX:78011679 [GRCh38]
ChrX:77267176 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.4046G>C (p.Arg1349Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV001961539] ChrX:78043357 [GRCh38]
ChrX:77298855 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2603T>C (p.Met868Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV001962147] ChrX:78015858 [GRCh38]
ChrX:77271355 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2209A>G (p.Lys737Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV001906197] ChrX:78012915 [GRCh38]
ChrX:77268412 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3421A>C (p.Asn1141His) single nucleotide variant Menkes kinky-hair syndrome [RCV001979499] ChrX:78033731 [GRCh38]
ChrX:77289229 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3028A>T (p.Thr1010Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV001904775] ChrX:78029361 [GRCh38]
ChrX:77284858 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.602G>A (p.Arg201Gln) single nucleotide variant Inborn genetic diseases [RCV002352739]|Menkes kinky-hair syndrome [RCV001999660] ChrX:77988723 [GRCh38]
ChrX:77244219 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4164G>A (p.Met1388Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV001956945] ChrX:78045510 [GRCh38]
ChrX:77301007 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2851G>A (p.Ala951Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV001897892] ChrX:78021014 [GRCh38]
ChrX:77276511 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.760C>T (p.Arg254Cys) single nucleotide variant Menkes kinky-hair syndrome [RCV001878801]|not provided [RCV002285509] ChrX:77989382 [GRCh38]
ChrX:77244878 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1897A>G (p.Lys633Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV001879074] ChrX:78011203 [GRCh38]
ChrX:77266700 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1334C>T (p.Ser445Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV001902065] ChrX:77989956 [GRCh38]
ChrX:77245452 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3545T>C (p.Ile1182Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV001881688] ChrX:78038869 [GRCh38]
ChrX:77294367 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1376C>T (p.Ser459Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV002027277]|not provided [RCV003232518] ChrX:77998517 [GRCh38]
ChrX:77254014 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.945G>T (p.Arg315Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV001935372] ChrX:77989567 [GRCh38]
ChrX:77245063 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3703G>A (p.Glu1235Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV002013160] ChrX:78040635 [GRCh38]
ChrX:77296133 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.659T>C (p.Ile220Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV001952148] ChrX:77989281 [GRCh38]
ChrX:77244777 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3428A>G (p.Lys1143Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV002010831] ChrX:78033738 [GRCh38]
ChrX:77289236 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2947A>G (p.Thr983Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV001899773] ChrX:78029280 [GRCh38]
ChrX:77284777 [GRCh37]
ChrX:Xq21.1		 benign|uncertain significance
NM_000052.7(ATP7A):c.2597A>G (p.His866Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV001973464]|not provided [RCV004793665] ChrX:78015852 [GRCh38]
ChrX:77271349 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.548A>G (p.His183Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV001916042] ChrX:77988669 [GRCh38]
ChrX:77244165 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3415G>A (p.Asp1139Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV001931926] ChrX:78033725 [GRCh38]
ChrX:77289223 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.802C>T (p.Gln268Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV001898748] ChrX:77989424 [GRCh38]
ChrX:77244920 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.737A>C (p.Lys246Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV002011306] ChrX:77989359 [GRCh38]
ChrX:77244855 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.90T>G (p.Ile30Met) single nucleotide variant Menkes kinky-hair syndrome [RCV001955462] ChrX:77971731 [GRCh38]
ChrX:77227228 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3201A>C (p.Arg1067Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV001903555] ChrX:78031489 [GRCh38]
ChrX:77286987 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4223A>C (p.Lys1408Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV001878596]|not provided [RCV004770235] ChrX:78045569 [GRCh38]
ChrX:77301066 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2909A>G (p.Tyr970Cys) single nucleotide variant Menkes kinky-hair syndrome [RCV001886210] ChrX:78021072 [GRCh38]
ChrX:77276569 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4355T>G (p.Leu1452Trp) single nucleotide variant Menkes kinky-hair syndrome [RCV001903863] ChrX:78046422 [GRCh38]
ChrX:77301919 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.4270A>G (p.Ser1424Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV001931378] ChrX:78046337 [GRCh38]
ChrX:77301834 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4025T>C (p.Val1342Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV002010694] ChrX:78043336 [GRCh38]
ChrX:77298834 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4447G>T (p.Asp1483Tyr) single nucleotide variant Menkes kinky-hair syndrome [RCV001881531] ChrX:78046514 [GRCh38]
ChrX:77302011 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4247A>G (p.Glu1416Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV001915708] ChrX:78046314 [GRCh38]
ChrX:77301811 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2573T>G (p.Val858Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV001919670] ChrX:78015828 [GRCh38]
ChrX:77271325 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2450C>T (p.Ala817Val) single nucleotide variant Menkes kinky-hair syndrome [RCV002031383] ChrX:78014705 [GRCh38]
ChrX:77270202 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.415A>T (p.Ile139Leu) single nucleotide variant Inborn genetic diseases [RCV004970825]|Menkes kinky-hair syndrome [RCV002036443]|Menkes kinky-hair syndrome [RCV004546698] ChrX:77988536 [GRCh38]
ChrX:77244032 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3463G>C (p.Glu1155Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV001977305] ChrX:78033773 [GRCh38]
ChrX:77289271 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77112834)_(77381327_?)dup duplication X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia [RCV002018602] ChrX:77112834..77381327 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.400G>T (p.Val134Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV001879630] ChrX:77988521 [GRCh38]
ChrX:77244017 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.605T>G (p.Ile202Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV001865122] ChrX:77988726 [GRCh38]
ChrX:77244222 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1825G>C (p.Asp609His) single nucleotide variant Menkes kinky-hair syndrome [RCV001990639] ChrX:78009219 [GRCh38]
ChrX:77264716 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2340C>T (p.Phe780=) single nucleotide variant Menkes kinky-hair syndrome [RCV002033555] ChrX:78013046 [GRCh38]
ChrX:77268543 [GRCh37]
ChrX:Xq21.1		 likely benign
NC_000023.10:g.(?_77227108)_(77227268_?)del deletion Menkes kinky-hair syndrome [RCV001958996] ChrX:77227108..77227268 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2842G>A (p.Val948Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV001870279] ChrX:78021005 [GRCh38]
ChrX:77276502 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3294+5A>C single nucleotide variant Menkes kinky-hair syndrome [RCV001952677]|not provided [RCV005428445] ChrX:78031587 [GRCh38]
ChrX:77287085 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.971G>C (p.Ser324Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV001938130] ChrX:77989593 [GRCh38]
ChrX:77245089 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2498+2T>G single nucleotide variant Menkes kinky-hair syndrome [RCV002019219] ChrX:78014755 [GRCh38]
ChrX:77270252 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2161G>T (p.Val721Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV001939162] ChrX:78011663 [GRCh38]
ChrX:77267160 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.305A>G (p.His102Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV001885752] ChrX:77988426 [GRCh38]
ChrX:77243922 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4363C>T (p.Arg1455Trp) single nucleotide variant Inborn genetic diseases [RCV004042729]|Menkes kinky-hair syndrome [RCV001907023]|not provided [RCV003490929] ChrX:78046430 [GRCh38]
ChrX:77301927 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1811C>T (p.Ala604Val) single nucleotide variant Menkes kinky-hair syndrome [RCV001885000] ChrX:78009205 [GRCh38]
ChrX:77264702 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1126A>G (p.Thr376Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV002032940] ChrX:77989748 [GRCh38]
ChrX:77245244 [GRCh37]
ChrX:Xq21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.4476C>G (p.Phe1492Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV001915756] ChrX:78046543 [GRCh38]
ChrX:77302040 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3274A>G (p.Ile1092Val) single nucleotide variant Menkes kinky-hair syndrome [RCV001956921] ChrX:78031562 [GRCh38]
ChrX:77287060 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV001951484]|Menkes kinky-hair syndrome [RCV003312030] ChrX:78038884 [GRCh38]
ChrX:77294382 [GRCh37]
ChrX:Xq21.1		 pathogenic|uncertain significance
NC_000023.10:g.(?_77264993)_(77268389_?)del deletion Menkes kinky-hair syndrome [RCV001870050] ChrX:77264993..77268389 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2212G>A (p.Ala738Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV001932830] ChrX:78012918 [GRCh38]
ChrX:77268415 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2202G>C (p.Gln734His) single nucleotide variant Menkes kinky-hair syndrome [RCV002015805] ChrX:78012908 [GRCh38]
ChrX:77268405 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2253G>A (p.Val751=) single nucleotide variant Menkes kinky-hair syndrome [RCV002110313] ChrX:78012959 [GRCh38]
ChrX:77268456 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.588G>A (p.Leu196=) single nucleotide variant Menkes kinky-hair syndrome [RCV002126601] ChrX:77988709 [GRCh38]
ChrX:77244205 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1707+16T>C single nucleotide variant Menkes kinky-hair syndrome [RCV002085435] ChrX:78003252 [GRCh38]
ChrX:77258749 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.611-4C>T single nucleotide variant Menkes kinky-hair syndrome [RCV002110939] ChrX:77989229 [GRCh38]
ChrX:77244725 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.753T>C (p.Asp251=) single nucleotide variant Menkes kinky-hair syndrome [RCV002091131] ChrX:77989375 [GRCh38]
ChrX:77244871 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1695T>C (p.Val565=) single nucleotide variant Menkes kinky-hair syndrome [RCV002091222] ChrX:78003224 [GRCh38]
ChrX:77258721 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys) single nucleotide variant Inborn genetic diseases [RCV002993470]|Menkes kinky-hair syndrome [RCV002090753] ChrX:78038857 [GRCh38]
ChrX:77294355 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1103T>C (p.Leu368Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV002190936] ChrX:77989725 [GRCh38]
ChrX:77245221 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3252T>C (p.Ser1084=) single nucleotide variant Menkes kinky-hair syndrome [RCV002147538] ChrX:78031540 [GRCh38]
ChrX:77287038 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4006-7T>C single nucleotide variant Menkes kinky-hair syndrome [RCV002147698] ChrX:78043310 [GRCh38]
ChrX:77298808 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2406+18G>A single nucleotide variant Menkes kinky-hair syndrome [RCV002111543] ChrX:78013130 [GRCh38]
ChrX:77268627 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.1399A>G (p.Thr467Ala) single nucleotide variant Inborn genetic diseases [RCV003161543]|Menkes kinky-hair syndrome [RCV002147836] ChrX:77998540 [GRCh38]
ChrX:77254037 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1779A>G (p.Leu593=) single nucleotide variant Menkes kinky-hair syndrome [RCV002106851] ChrX:78009173 [GRCh38]
ChrX:77264670 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4272C>T (p.Ser1424=) single nucleotide variant Menkes kinky-hair syndrome [RCV002076279] ChrX:78046339 [GRCh38]
ChrX:77301836 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4124-17C>T single nucleotide variant Menkes kinky-hair syndrome [RCV002109643] ChrX:78045453 [GRCh38]
ChrX:77300950 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3935C>A (p.Ala1312Asp) single nucleotide variant not provided [RCV002226021] ChrX:78042718 [GRCh38]
ChrX:77298216 [GRCh37]
ChrX:Xq21.1		 likely pathogenic|uncertain significance
NM_000052.7(ATP7A):c.3606C>T (p.Phe1202=) single nucleotide variant Menkes kinky-hair syndrome [RCV002147988] ChrX:78038930 [GRCh38]
ChrX:77294428 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1023G>A (p.Gly341=) single nucleotide variant Menkes kinky-hair syndrome [RCV002146716] ChrX:77989645 [GRCh38]
ChrX:77245141 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3810T>C (p.Ile1270=) single nucleotide variant Menkes kinky-hair syndrome [RCV002169918] ChrX:78042593 [GRCh38]
ChrX:77298091 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.319T>C (p.Leu107=) single nucleotide variant Menkes kinky-hair syndrome [RCV002190097] ChrX:77988440 [GRCh38]
ChrX:77243936 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1701A>G (p.Glu567=) single nucleotide variant Menkes kinky-hair syndrome [RCV002168168] ChrX:78003230 [GRCh38]
ChrX:77258727 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1756C>G (p.Leu586Val) single nucleotide variant Menkes kinky-hair syndrome [RCV002110373]|not provided [RCV003146516] ChrX:78009150 [GRCh38]
ChrX:77264647 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2916+3A>T single nucleotide variant X-linked distal spinal muscular atrophy type 3 [RCV002248977] ChrX:78021082 [GRCh38]
ChrX:77276579 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.4190C>T (p.Ser1397Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV003312048]|not provided [RCV002224290] ChrX:78045536 [GRCh38]
ChrX:77301033 [GRCh37]
ChrX:Xq21.1		 likely pathogenic|uncertain significance
NM_000052.7(ATP7A):c.3255A>G (p.Glu1085=) single nucleotide variant Menkes kinky-hair syndrome [RCV002185125] ChrX:78031543 [GRCh38]
ChrX:77287041 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3554G>A (p.Arg1185Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV002205217] ChrX:78038878 [GRCh38]
ChrX:77294376 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3915C>T (p.Asp1305=) single nucleotide variant Menkes kinky-hair syndrome [RCV002190763] ChrX:78042698 [GRCh38]
ChrX:77298196 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3009A>C (p.Ser1003=) single nucleotide variant Menkes kinky-hair syndrome [RCV002188541] ChrX:78029342 [GRCh38]
ChrX:77284839 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.729G>T (p.Lys243Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV005213623]|not provided [RCV002224511] ChrX:77989351 [GRCh38]
ChrX:77244847 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2406+15G>C single nucleotide variant Menkes kinky-hair syndrome [RCV002124700] ChrX:78013127 [GRCh38]
ChrX:77268624 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2865A>G (p.Val955=) single nucleotide variant ATP7A-related disorder [RCV003971027]|Menkes kinky-hair syndrome [RCV002109343] ChrX:78021028 [GRCh38]
ChrX:77276525 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2040T>C (p.Thr680=) single nucleotide variant Menkes kinky-hair syndrome [RCV002206931] ChrX:78011542 [GRCh38]
ChrX:77267039 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1498G>A (p.Ala500Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003774674]|not provided [RCV002225994] ChrX:77998639 [GRCh38]
ChrX:77254136 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1947-16_1947-14del deletion Menkes kinky-hair syndrome [RCV002106706] ChrX:78011431..78011433 [GRCh38]
ChrX:77266928..77266930 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3500C>G (p.Ala1167Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV002108229] ChrX:78033810 [GRCh38]
ChrX:77289308 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1344T>C (p.Asn448=) single nucleotide variant Menkes kinky-hair syndrome [RCV002145369] ChrX:77998485 [GRCh38]
ChrX:77253982 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1222A>G (p.Ile408Val) single nucleotide variant Inborn genetic diseases [RCV004965781]|Menkes kinky-hair syndrome [RCV002144832] ChrX:77989844 [GRCh38]
ChrX:77245340 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2064T>C (p.Ser688=) single nucleotide variant Menkes kinky-hair syndrome [RCV002189176] ChrX:78011566 [GRCh38]
ChrX:77267063 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1662T>G (p.Thr554=) single nucleotide variant Menkes kinky-hair syndrome [RCV002107030] ChrX:78003191 [GRCh38]
ChrX:77258688 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4005+19C>A single nucleotide variant Menkes kinky-hair syndrome [RCV002175160] ChrX:78042807 [GRCh38]
ChrX:77298305 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4020T>C (p.Asp1340=) single nucleotide variant Menkes kinky-hair syndrome [RCV002152407] ChrX:78043331 [GRCh38]
ChrX:77298829 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3294+10T>A single nucleotide variant Menkes kinky-hair syndrome [RCV002196155] ChrX:78031592 [GRCh38]
ChrX:77287090 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3112-5dup duplication Menkes kinky-hair syndrome [RCV002115846] ChrX:78031388..78031389 [GRCh38]
ChrX:77286886..77286887 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.4136C>T (p.Pro1379Leu) single nucleotide variant X-linked distal spinal muscular atrophy type 3 [RCV002226601] ChrX:78045482 [GRCh38]
ChrX:77300979 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2949G>A (p.Thr983=) single nucleotide variant Menkes kinky-hair syndrome [RCV002171885] ChrX:78029282 [GRCh38]
ChrX:77284779 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2145G>A (p.Leu715=) single nucleotide variant Menkes kinky-hair syndrome [RCV002152406] ChrX:78011647 [GRCh38]
ChrX:77267144 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.822C>T (p.Thr274=) single nucleotide variant Menkes kinky-hair syndrome [RCV002112905] ChrX:77989444 [GRCh38]
ChrX:77244940 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1431A>G (p.Pro477=) single nucleotide variant Menkes kinky-hair syndrome [RCV002076536] ChrX:77998572 [GRCh38]
ChrX:77254069 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.611-10T>C single nucleotide variant Menkes kinky-hair syndrome [RCV002206428] ChrX:77989223 [GRCh38]
ChrX:77244719 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2712A>T (p.Ala904=) single nucleotide variant Menkes kinky-hair syndrome [RCV002093710] ChrX:78020329 [GRCh38]
ChrX:77275826 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.6T>C (p.Asp2=) single nucleotide variant Menkes kinky-hair syndrome [RCV002134833] ChrX:77971647 [GRCh38]
ChrX:77227144 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3659-12C>T single nucleotide variant Menkes kinky-hair syndrome [RCV002196377] ChrX:78040579 [GRCh38]
ChrX:77296077 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1946+11T>C single nucleotide variant Menkes kinky-hair syndrome [RCV002093640] ChrX:78011263 [GRCh38]
ChrX:77266760 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2580T>A (p.Gly860=) single nucleotide variant Menkes kinky-hair syndrome [RCV002095253] ChrX:78015835 [GRCh38]
ChrX:77271332 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2028C>T (p.His676=) single nucleotide variant Menkes kinky-hair syndrome [RCV002134183] ChrX:78011530 [GRCh38]
ChrX:77267027 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.945G>A (p.Arg315=) single nucleotide variant Menkes kinky-hair syndrome [RCV002080540] ChrX:77989567 [GRCh38]
ChrX:77245063 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2949G>T (p.Thr983=) single nucleotide variant Menkes kinky-hair syndrome [RCV002128459] ChrX:78029282 [GRCh38]
ChrX:77284779 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1896C>G (p.Val632=) single nucleotide variant Menkes kinky-hair syndrome [RCV002094661] ChrX:78011202 [GRCh38]
ChrX:77266699 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4375T>C (p.Tyr1459His) single nucleotide variant Menkes kinky-hair syndrome [RCV002215826] ChrX:78046442 [GRCh38]
ChrX:77301939 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3112-16C>G single nucleotide variant Menkes kinky-hair syndrome [RCV002090427] ChrX:78031384 [GRCh38]
ChrX:77286882 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1255G>T (p.Val419Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV002114228] ChrX:77989877 [GRCh38]
ChrX:77245373 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1141A>G (p.Ile381Val) single nucleotide variant Menkes kinky-hair syndrome [RCV002096014]|not provided [RCV003327553] ChrX:77989763 [GRCh38]
ChrX:77245259 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2923A>G (p.Asn975Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV002173583] ChrX:78029256 [GRCh38]
ChrX:77284753 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.611-21_611-17del deletion Menkes kinky-hair syndrome [RCV002093806] ChrX:77989209..77989213 [GRCh38]
ChrX:77244705..77244709 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1885G>A (p.Ala629Thr) single nucleotide variant Inborn genetic diseases [RCV002409621]|not provided [RCV002214545] ChrX:78011191 [GRCh38]
ChrX:77266688 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2967C>T (p.Phe989=) single nucleotide variant Menkes kinky-hair syndrome [RCV002152698] ChrX:78029300 [GRCh38]
ChrX:77284797 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3558G>A (p.Glu1186=) single nucleotide variant Menkes kinky-hair syndrome [RCV002127538] ChrX:78038882 [GRCh38]
ChrX:77294380 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2226G>C (p.Lys742Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV002187102] ChrX:78012932 [GRCh38]
ChrX:77268429 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2626+11T>G single nucleotide variant Menkes kinky-hair syndrome [RCV002072844] ChrX:78015892 [GRCh38]
ChrX:77271389 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3834A>G (p.Leu1278=) single nucleotide variant Menkes kinky-hair syndrome [RCV002080093] ChrX:78042617 [GRCh38]
ChrX:77298115 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3112-5T>C single nucleotide variant Menkes kinky-hair syndrome [RCV002085005] ChrX:78031395 [GRCh38]
ChrX:77286893 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2627-17C>T single nucleotide variant Menkes kinky-hair syndrome [RCV002149312] ChrX:78020227 [GRCh38]
ChrX:77275724 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3081A>G (p.Lys1027=) single nucleotide variant Menkes kinky-hair syndrome [RCV002152906] ChrX:78029414 [GRCh38]
ChrX:77284911 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4254T>C (p.Tyr1418=) single nucleotide variant Menkes kinky-hair syndrome [RCV002080109] ChrX:78046321 [GRCh38]
ChrX:77301818 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2053C>G (p.Gln685Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV002206682] ChrX:78011555 [GRCh38]
ChrX:77267052 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3511+8A>C single nucleotide variant Menkes kinky-hair syndrome [RCV002076413]|Menkes kinky-hair syndrome [RCV002471255] ChrX:78033829 [GRCh38]
ChrX:77289327 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1289C>T (p.Thr430Met) single nucleotide variant Menkes kinky-hair syndrome [RCV002108250]|not specified [RCV002266102] ChrX:77989911 [GRCh38]
ChrX:77245407 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2322A>G (p.Lys774=) single nucleotide variant Menkes kinky-hair syndrome [RCV002092940] ChrX:78013028 [GRCh38]
ChrX:77268525 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1170C>T (p.Ser390=) single nucleotide variant Menkes kinky-hair syndrome [RCV002152405] ChrX:77989792 [GRCh38]
ChrX:77245288 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2938C>A (p.Arg980=) single nucleotide variant Menkes kinky-hair syndrome [RCV002187571] ChrX:78029271 [GRCh38]
ChrX:77284768 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3036G>A (p.Val1012=) single nucleotide variant Menkes kinky-hair syndrome [RCV002173761] ChrX:78029369 [GRCh38]
ChrX:77284866 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3111+18A>T single nucleotide variant Menkes kinky-hair syndrome [RCV002194562] ChrX:78029462 [GRCh38]
ChrX:77284959 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.121-12T>C single nucleotide variant Menkes kinky-hair syndrome [RCV002071593] ChrX:77988230 [GRCh38]
ChrX:77243726 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3885G>A (p.Arg1295=) single nucleotide variant ATP7A-related disorder [RCV003911167]|Menkes kinky-hair syndrome [RCV002097132] ChrX:78042668 [GRCh38]
ChrX:77298166 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4227-11C>T single nucleotide variant Menkes kinky-hair syndrome [RCV002075645] ChrX:78046283 [GRCh38]
ChrX:77301780 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2406+16_2406+18del deletion Menkes kinky-hair syndrome [RCV002134651] ChrX:78013127..78013129 [GRCh38]
ChrX:77268624..77268626 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3775A>G (p.Lys1259Glu) single nucleotide variant Inborn genetic diseases [RCV002363673]|Menkes kinky-hair syndrome [RCV002134070] ChrX:78040707 [GRCh38]
ChrX:77296205 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1247A>C (p.Asn416Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV002110506] ChrX:77989869 [GRCh38]
ChrX:77245365 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3522T>C (p.Asn1174=) single nucleotide variant Menkes kinky-hair syndrome [RCV002077485] ChrX:78038846 [GRCh38]
ChrX:77294344 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1878T>C (p.Gly626=) single nucleotide variant Menkes kinky-hair syndrome [RCV002180846] ChrX:78011184 [GRCh38]
ChrX:77266681 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.579T>A (p.Ile193=) single nucleotide variant Menkes kinky-hair syndrome [RCV002197873] ChrX:77988700 [GRCh38]
ChrX:77244196 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.204C>T (p.Asp68=) single nucleotide variant Menkes kinky-hair syndrome [RCV002117617] ChrX:77988325 [GRCh38]
ChrX:77243821 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.166C>T (p.Leu56=) single nucleotide variant Menkes kinky-hair syndrome [RCV002197975] ChrX:77988287 [GRCh38]
ChrX:77243783 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2499-12A>T single nucleotide variant Menkes kinky-hair syndrome [RCV002137481] ChrX:78015742 [GRCh38]
ChrX:77271239 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3861G>A (p.Lys1287=) single nucleotide variant Menkes kinky-hair syndrome [RCV002119818] ChrX:78042644 [GRCh38]
ChrX:77298142 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1869+9C>G single nucleotide variant Menkes kinky-hair syndrome [RCV002175646] ChrX:78009272 [GRCh38]
ChrX:77264769 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.437del (p.Leu146fs) deletion X-linked distal spinal muscular atrophy type 3 [RCV002249286] ChrX:77988558 [GRCh38]
ChrX:77244054 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.506G>A (p.Gly169Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV002118932] ChrX:77988627 [GRCh38]
ChrX:77244123 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2694G>A (p.Gly898=) single nucleotide variant Menkes kinky-hair syndrome [RCV002164758] ChrX:78020311 [GRCh38]
ChrX:77275808 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4006-10C>T single nucleotide variant Menkes kinky-hair syndrome [RCV002123036] ChrX:78043307 [GRCh38]
ChrX:77298805 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.1226G>A (p.Arg409Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV002140832]|not provided [RCV004729096] ChrX:77989848 [GRCh38]
ChrX:77245344 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.108G>A (p.Val36=) single nucleotide variant Menkes kinky-hair syndrome [RCV002175668] ChrX:77971749 [GRCh38]
ChrX:77227246 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3802-6A>T single nucleotide variant Menkes kinky-hair syndrome [RCV002160130] ChrX:78042579 [GRCh38]
ChrX:77298077 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2142G>A (p.Leu714=) single nucleotide variant Menkes kinky-hair syndrome [RCV002163595] ChrX:78011644 [GRCh38]
ChrX:77267141 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2094T>C (p.Ser698=) single nucleotide variant Menkes kinky-hair syndrome [RCV002102404] ChrX:78011596 [GRCh38]
ChrX:77267093 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.83A>T (p.Gln28Leu) single nucleotide variant Inborn genetic diseases [RCV003161390]|Menkes kinky-hair syndrome [RCV002202210] ChrX:77971724 [GRCh38]
ChrX:77227221 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1060A>G (p.Thr354Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV002121973] ChrX:77989682 [GRCh38]
ChrX:77245178 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3278C>T (p.Thr1093Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003094051]|not specified [RCV002247000] ChrX:78031566 [GRCh38]
ChrX:77287064 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3802-6A>G single nucleotide variant Menkes kinky-hair syndrome [RCV002099209] ChrX:78042579 [GRCh38]
ChrX:77298077 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3112-15_3112-14dup duplication Menkes kinky-hair syndrome [RCV002143993] ChrX:78031384..78031385 [GRCh38]
ChrX:77286882..77286883 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.942T>C (p.Asn314=) single nucleotide variant Menkes kinky-hair syndrome [RCV002083095] ChrX:77989564 [GRCh38]
ChrX:77245060 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2010T>C (p.Tyr670=) single nucleotide variant Menkes kinky-hair syndrome [RCV002180399] ChrX:78011512 [GRCh38]
ChrX:77267009 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1566C>T (p.Ala522=) single nucleotide variant Menkes kinky-hair syndrome [RCV002175363] ChrX:78003095 [GRCh38]
ChrX:77258592 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.48T>G (p.Gly16=) single nucleotide variant Menkes kinky-hair syndrome [RCV002144456] ChrX:77971689 [GRCh38]
ChrX:77227186 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1870-12G>T single nucleotide variant Menkes kinky-hair syndrome [RCV002219011] ChrX:78011164 [GRCh38]
ChrX:77266661 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1947-16del deletion Menkes kinky-hair syndrome [RCV002081678] ChrX:78011433 [GRCh38]
ChrX:77266930 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3132T>C (p.Asp1044=) single nucleotide variant Menkes kinky-hair syndrome [RCV002161436]|not specified [RCV002246689] ChrX:78031420 [GRCh38]
ChrX:77286918 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2797T>C (p.Phe933Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV002135929] ChrX:78020960 [GRCh38]
ChrX:77276457 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1425G>A (p.Met475Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV002120011] ChrX:77998566 [GRCh38]
ChrX:77254063 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.1337-5A>G single nucleotide variant ATP7A-related disorder [RCV003968872]|Menkes kinky-hair syndrome [RCV002100660] ChrX:77998473 [GRCh38]
ChrX:77253970 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1259A>G (p.Glu420Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV002162201] ChrX:77989881 [GRCh38]
ChrX:77245377 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1309G>A (p.Asp437Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV002180067] ChrX:77989931 [GRCh38]
ChrX:77245427 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2172+12G>C single nucleotide variant Menkes kinky-hair syndrome [RCV002101887] ChrX:78011686 [GRCh38]
ChrX:77267183 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4227-12del deletion Menkes kinky-hair syndrome [RCV002184850] ChrX:78046282 [GRCh38]
ChrX:77301779 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.816A>G (p.Ser272=) single nucleotide variant Menkes kinky-hair syndrome [RCV002156085] ChrX:77989438 [GRCh38]
ChrX:77244934 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.611-7T>C single nucleotide variant Menkes kinky-hair syndrome [RCV002119424] ChrX:77989226 [GRCh38]
ChrX:77244722 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3357T>A (p.Ile1119=) single nucleotide variant ATP7A-related disorder [RCV004729101]|Menkes kinky-hair syndrome [RCV002203415] ChrX:78033667 [GRCh38]
ChrX:77289165 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3294+12dup duplication Menkes kinky-hair syndrome [RCV002122867] ChrX:78031587..78031588 [GRCh38]
ChrX:77287085..77287086 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.891T>A (p.Ser297Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV002183136] ChrX:77989513 [GRCh38]
ChrX:77245009 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3186A>G (p.Leu1062=) single nucleotide variant Menkes kinky-hair syndrome [RCV002201716] ChrX:78031474 [GRCh38]
ChrX:77286972 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2001G>C (p.Leu667=) single nucleotide variant Menkes kinky-hair syndrome [RCV002098274] ChrX:78011503 [GRCh38]
ChrX:77267000 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1146C>T (p.Asn382=) single nucleotide variant Menkes kinky-hair syndrome [RCV002137703] ChrX:77989768 [GRCh38]
ChrX:77245264 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4293T>C (p.Pro1431=) single nucleotide variant Menkes kinky-hair syndrome [RCV002177709] ChrX:78046360 [GRCh38]
ChrX:77301857 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2376A>T (p.Ala792=) single nucleotide variant Menkes kinky-hair syndrome [RCV002103702] ChrX:78013082 [GRCh38]
ChrX:77268579 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2407-4A>T single nucleotide variant Menkes kinky-hair syndrome [RCV002141658] ChrX:78014658 [GRCh38]
ChrX:77270155 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4420C>G (p.Leu1474Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002221640] ChrX:78046487 [GRCh38]
ChrX:77301984 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2463T>C (p.Thr821=) single nucleotide variant Menkes kinky-hair syndrome [RCV002140120] ChrX:78014718 [GRCh38]
ChrX:77270215 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.552A>G (p.Ser184=) single nucleotide variant Menkes kinky-hair syndrome [RCV002181915] ChrX:77988673 [GRCh38]
ChrX:77244169 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.376G>A (p.Ala126Thr) single nucleotide variant not provided [RCV004786099] ChrX:77988497 [GRCh38]
ChrX:77243993 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3256C>T (p.His1086Tyr) single nucleotide variant Menkes kinky-hair syndrome [RCV003115310] ChrX:78031544 [GRCh38]
ChrX:77287042 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2407-19TGTT[3] microsatellite Menkes kinky-hair syndrome [RCV003116970] ChrX:78014642..78014643 [GRCh38]
ChrX:77270139..77270140 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3290A>G (p.Lys1097Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003118175] ChrX:78031578 [GRCh38]
ChrX:77287076 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1151A>G (p.Asp384Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV003118071] ChrX:77989773 [GRCh38]
ChrX:77245269 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4050G>T (p.Lys1350Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV003112074] ChrX:78043361 [GRCh38]
ChrX:77298859 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4330T>A (p.Ser1444Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003117213] ChrX:78046397 [GRCh38]
ChrX:77301894 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1493C>G (p.Thr498Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV003115800] ChrX:77998634 [GRCh38]
ChrX:77254131 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4223A>G (p.Lys1408Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003121797] ChrX:78045569 [GRCh38]
ChrX:77301066 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2196C>T (p.Tyr732=) single nucleotide variant Menkes kinky-hair syndrome [RCV003118573] ChrX:78012902 [GRCh38]
ChrX:77268399 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1037G>T (p.Ser346Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003118732] ChrX:77989659 [GRCh38]
ChrX:77245155 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_76763829)_(77381327_?)dup duplication X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia [RCV003122850] ChrX:76763829..77381327 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77084697)_(77268629_?)del deletion X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia [RCV003122851] ChrX:77084697..77268629 [GRCh37]
ChrX:Xq21.1		 pathogenic
NC_000023.10:g.(?_77264579)_(77264780_?)dup duplication Menkes kinky-hair syndrome [RCV003119185] ChrX:77264579..77264780 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77266663)_(77268619_?)dup duplication Menkes kinky-hair syndrome [RCV003119186] ChrX:77266663..77268619 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77300947)_(77302067_?)del deletion Menkes kinky-hair syndrome [RCV003119187] ChrX:77300947..77302067 [GRCh37]
ChrX:Xq21.1		 pathogenic
NC_000023.10:g.(?_77150786)_(77289339_?)dup duplication Menkes kinky-hair syndrome [RCV003119189] ChrX:77150786..77289339 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77270149)_(77305902_?)dup duplication Menkes kinky-hair syndrome [RCV003119191] ChrX:77270149..77305902 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77298795)_(77302067_?)dup duplication Menkes kinky-hair syndrome [RCV003119192] ChrX:77298795..77302067 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77266653)_(77271398_?)dup duplication Menkes kinky-hair syndrome [RCV003119193] ChrX:77266653..77271398 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.839C>T (p.Thr280Ile) single nucleotide variant not provided [RCV003120406] ChrX:77989461 [GRCh38]
ChrX:77244957 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3039G>A (p.Met1013Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003120079]|not provided [RCV003435979] ChrX:78029372 [GRCh38]
ChrX:77284869 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4040T>C (p.Leu1347Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV004785227] ChrX:78043351 [GRCh38]
ChrX:77298849 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1708-13T>G single nucleotide variant Menkes kinky-hair syndrome [RCV004796967] ChrX:78009089 [GRCh38]
ChrX:77264586 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2180G>A (p.Gly727Glu) single nucleotide variant X-linked distal spinal muscular atrophy type 3 [RCV002248976] ChrX:78012886 [GRCh38]
ChrX:77268383 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.209G>C (p.Gly70Ala) single nucleotide variant not provided [RCV003152225] ChrX:77988330 [GRCh38]
ChrX:77243826 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3802-1G>A single nucleotide variant X-linked distal spinal muscular atrophy type 3 [RCV002249289] ChrX:78042584 [GRCh38]
ChrX:77298082 [GRCh37]
ChrX:Xq21.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000052.7(ATP7A):c.1544-1G>C single nucleotide variant X-linked distal spinal muscular atrophy type 3 [RCV002251691] ChrX:78003072 [GRCh38]
ChrX:77258569 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.120+7T>C single nucleotide variant Menkes kinky-hair syndrome [RCV002273022]|Menkes kinky-hair syndrome [RCV003096147] ChrX:77971768 [GRCh38]
ChrX:77227265 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.4124-538A>G single nucleotide variant Menkes kinky-hair syndrome [RCV002275625] ChrX:78044932 [GRCh38]
ChrX:77300429 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2773A>G (p.Thr925Ala) single nucleotide variant not provided [RCV002278948] ChrX:78020390 [GRCh38]
ChrX:77275887 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 copy number gain not provided [RCV002291535] ChrX:76794355..119282836 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
NM_000052.7(ATP7A):c.1374A>G (p.Ser458=) single nucleotide variant Ehlers-Danlos syndrome [RCV002278082]|Menkes kinky-hair syndrome [RCV003101590] ChrX:77998515 [GRCh38]
ChrX:77254012 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3584T>A (p.Ile1195Asn) single nucleotide variant Ehlers-Danlos syndrome [RCV002278137]|X-linked distal spinal muscular atrophy type 3 [RCV005356078] ChrX:78038908 [GRCh38]
ChrX:77294406 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2711C>T (p.Ala904Val) single nucleotide variant not provided [RCV002282995] ChrX:78020328 [GRCh38]
ChrX:77275825 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2149T>G (p.Phe717Val) single nucleotide variant Ehlers-Danlos syndrome [RCV002278119]|Menkes kinky-hair syndrome [RCV003774911] ChrX:78011651 [GRCh38]
ChrX:77267148 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_000052.7(ATP7A):c.2406+3A>C single nucleotide variant See cases [RCV002287693] ChrX:78013115 [GRCh38]
ChrX:77268612 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3802-21_3802-11dup duplication not provided [RCV002276319] ChrX:78042561..78042562 [GRCh38]
ChrX:77298059..77298060 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1747G>C (p.Glu583Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV002288436] ChrX:78009141 [GRCh38]
ChrX:77264638 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(77284942_77286897)_(77289271_77294333)del deletion Menkes kinky-hair syndrome [RCV002266365] ChrX:77286897..77289271 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1483A>G (p.Thr495Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV004763348]|not provided [RCV002263559] ChrX:77998624 [GRCh38]
ChrX:77254121 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3816G>C (p.Lys1272Asn) single nucleotide variant not provided [RCV002279008] ChrX:78042599 [GRCh38]
ChrX:77298097 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2444T>C (p.Leu815Pro) single nucleotide variant not provided [RCV002291438] ChrX:78014699 [GRCh38]
ChrX:77270196 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.541A>G (p.Thr181Ala) single nucleotide variant Inborn genetic diseases [RCV002349466] ChrX:77988662 [GRCh38]
ChrX:77244158 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3776A>G (p.Lys1259Arg) single nucleotide variant Inborn genetic diseases [RCV002351106] ChrX:78040708 [GRCh38]
ChrX:77296206 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.136A>G (p.Lys46Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV003096105]|not provided [RCV002269773] ChrX:77988257 [GRCh38]
ChrX:77243753 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3337G>C (p.Val1113Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV002297593] ChrX:78033647 [GRCh38]
ChrX:77289145 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.553T>C (p.Cys185Arg) single nucleotide variant Inborn genetic diseases [RCV002351885] ChrX:77988674 [GRCh38]
ChrX:77244170 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_001029891.3(PGAM4):c.412A>G (p.Lys138Glu) single nucleotide variant not specified [RCV004296684] ChrX:77969227 [GRCh38]
ChrX:77224724 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3947T>G (p.Ile1316Ser) single nucleotide variant Cutis laxa, X-linked [RCV003148163]|Menkes kinky-hair syndrome [RCV003148164]|X-linked distal spinal muscular atrophy type 3 [RCV003148165] ChrX:78042730 [GRCh38]
ChrX:77298228 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1690G>A (p.Gly564Ser) single nucleotide variant Inborn genetic diseases [RCV002414636]|Menkes kinky-hair syndrome [RCV003097125] ChrX:78003219 [GRCh38]
ChrX:77258716 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4168T>C (p.Ser1390Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV002472153] ChrX:78045514 [GRCh38]
ChrX:77301011 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
GRCh37/hg19 Xq21.1(chrX:77274160-77491039)x2 copy number gain not provided [RCV002474628] ChrX:77274160..77491039 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.67G>A (p.Val23Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV002303483] ChrX:77971708 [GRCh38]
ChrX:77227205 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xq13.3-21.1(chrX:75463914-77297280)x3 copy number gain not provided [RCV002472836] ChrX:75463914..77297280 [GRCh37]
ChrX:Xq13.3-21.1		 uncertain significance
NM_000052.7(ATP7A):c.4316G>C (p.Gly1439Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV002303620] ChrX:78046383 [GRCh38]
ChrX:77301880 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2280C>G (p.Tyr760Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV002470435] ChrX:78012986 [GRCh38]
ChrX:77268483 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1869+12G>T single nucleotide variant Menkes kinky-hair syndrome [RCV002968134] ChrX:78009275 [GRCh38]
ChrX:77264772 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2048A>G (p.His683Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV002471710]|Menkes kinky-hair syndrome [RCV003111574] ChrX:78011550 [GRCh38]
ChrX:77267047 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xq21.1(chrX:76646315-77386337)x3 copy number gain not provided [RCV002473709] ChrX:76646315..77386337 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4489G>A (p.Asp1497Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV002574718]|not provided [RCV002505955] ChrX:78046556 [GRCh38]
ChrX:77302053 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3425T>C (p.Ile1142Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV002303786] ChrX:78033735 [GRCh38]
ChrX:77289233 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3284A>G (p.Tyr1095Cys) single nucleotide variant Cutis laxa, X-linked [RCV003147869]|Menkes kinky-hair syndrome [RCV003147870]|X-linked distal spinal muscular atrophy type 3 [RCV003147871] ChrX:78031572 [GRCh38]
ChrX:77287070 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.753_755delinsA (p.Asp251fs) indel Menkes kinky-hair syndrome [RCV002306510] ChrX:77989375..77989377 [GRCh38]
ChrX:77244871..77244873 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2464A>G (p.Ile822Val) single nucleotide variant Inborn genetic diseases [RCV002455503]|Menkes kinky-hair syndrome [RCV003101848] ChrX:78014719 [GRCh38]
ChrX:77270216 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
GRCh37/hg19 Xq21.1(chrX:77263244-77501532)x3 copy number gain not provided [RCV002472439] ChrX:77263244..77501532 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1555A>G (p.Ile519Val) single nucleotide variant Inborn genetic diseases [RCV002403438]|Menkes kinky-hair syndrome [RCV003096925] ChrX:78003084 [GRCh38]
ChrX:77258581 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1875_1876del (p.Gly626fs) deletion Menkes kinky-hair syndrome [RCV002306734] ChrX:78011181..78011182 [GRCh38]
ChrX:77266678..77266679 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1972C>G (p.Leu658Val) single nucleotide variant Menkes kinky-hair syndrome [RCV002303963] ChrX:78011474 [GRCh38]
ChrX:77266971 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3013G>T (p.Gly1005Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV002307152] ChrX:78029346 [GRCh38]
ChrX:77284843 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.706_707insTC (p.Ala236fs) insertion Menkes kinky-hair syndrome [RCV002307209] ChrX:77989328..77989329 [GRCh38]
ChrX:77244824..77244825 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1492A>G (p.Thr498Ala) single nucleotide variant Inborn genetic diseases [RCV002389723] ChrX:77998633 [GRCh38]
ChrX:77254130 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4040T>A (p.Leu1347Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV002308371] ChrX:78043351 [GRCh38]
ChrX:77298849 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.916A>G (p.Ser306Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV002305014] ChrX:77989538 [GRCh38]
ChrX:77245034 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.748A>C (p.Ile250Leu) single nucleotide variant Inborn genetic diseases [RCV002391540]|Menkes kinky-hair syndrome [RCV005215859] ChrX:77989370 [GRCh38]
ChrX:77244866 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1242T>G (p.Asn414Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV002305399] ChrX:77989864 [GRCh38]
ChrX:77245360 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3007T>C (p.Ser1003Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV002305418] ChrX:78029340 [GRCh38]
ChrX:77284837 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1605del (p.Val536fs) deletion Menkes kinky-hair syndrome [RCV002309277] ChrX:78003134 [GRCh38]
ChrX:77258631 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.319_320insACTGTCTCTTA (p.Leu107fs) insertion Menkes kinky-hair syndrome [RCV002309411] ChrX:77988440..77988441 [GRCh38]
ChrX:77243936..77243937 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1697del (p.Leu566fs) deletion Menkes kinky-hair syndrome [RCV002309604] ChrX:78003223 [GRCh38]
ChrX:77258720 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1599_1603delinsGAGA (p.Asn533fs) indel Menkes kinky-hair syndrome [RCV002309279] ChrX:78003128..78003132 [GRCh38]
ChrX:77258625..77258629 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1608_1611del (p.Ile537fs) deletion Menkes kinky-hair syndrome [RCV002309281] ChrX:78003137..78003140 [GRCh38]
ChrX:77258634..77258637 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2086_2087del (p.His696fs) deletion Menkes kinky-hair syndrome [RCV002309314] ChrX:78011588..78011589 [GRCh38]
ChrX:77267085..77267086 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.380_381del (p.Val127fs) deletion Menkes kinky-hair syndrome [RCV002309354] ChrX:77988500..77988501 [GRCh38]
ChrX:77243996..77243997 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1077del (p.Ser360fs) deletion Menkes kinky-hair syndrome [RCV002309355] ChrX:77989698 [GRCh38]
ChrX:77245194 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3081del (p.Gly1028fs) deletion Menkes kinky-hair syndrome [RCV002308354] ChrX:78029411 [GRCh38]
ChrX:77284908 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1400C>G (p.Thr467Ser) single nucleotide variant Inborn genetic diseases [RCV002389263]|Menkes kinky-hair syndrome [RCV003095095] ChrX:77998541 [GRCh38]
ChrX:77254038 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1439_1443del (p.Asp480fs) deletion Menkes kinky-hair syndrome [RCV002309589] ChrX:77998576..77998580 [GRCh38]
ChrX:77254073..77254077 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.520A>T (p.Lys174Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV002310349] ChrX:77988641 [GRCh38]
ChrX:77244137 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.4286A>G (p.Lys1429Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV002300164] ChrX:78046353 [GRCh38]
ChrX:77301850 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.293T>A (p.Leu98Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV002307916] ChrX:77988414 [GRCh38]
ChrX:77243910 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.899C>G (p.Ser300Cys) single nucleotide variant Inborn genetic diseases [RCV002376304]|Menkes kinky-hair syndrome [RCV003103549]|not provided [RCV003108066] ChrX:77989521 [GRCh38]
ChrX:77245017 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.349A>T (p.Lys117Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV002310403] ChrX:77988470 [GRCh38]
ChrX:77243966 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3515_3522delinsAAG (p.Ala1172fs) indel Menkes kinky-hair syndrome [RCV002310418] ChrX:78038839..78038846 [GRCh38]
ChrX:77294337..77294344 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1924_1925del (p.Asp642fs) deletion Menkes kinky-hair syndrome [RCV002308047] ChrX:78011229..78011230 [GRCh38]
ChrX:77266726..77266727 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1139_1142delinsGAA (p.Val380fs) indel Menkes kinky-hair syndrome [RCV002309948] ChrX:77989761..77989764 [GRCh38]
ChrX:77245257..77245260 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2045_2046del (p.His682fs) deletion Menkes kinky-hair syndrome [RCV002309985] ChrX:78011546..78011547 [GRCh38]
ChrX:77267043..77267044 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3853A>T (p.Lys1285Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV002310312] ChrX:78042636 [GRCh38]
ChrX:77298134 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3209_3210del (p.His1070fs) microsatellite Menkes kinky-hair syndrome [RCV002308432] ChrX:78031494..78031495 [GRCh38]
ChrX:77286992..77286993 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3667_3669delinsA (p.Cys1223fs) indel Menkes kinky-hair syndrome [RCV002306486] ChrX:78040599..78040601 [GRCh38]
ChrX:77296097..77296099 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3793_3794del (p.Ala1265fs) deletion Menkes kinky-hair syndrome [RCV002306527] ChrX:78040725..78040726 [GRCh38]
ChrX:77296223..77296224 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.45G>C (p.Glu15Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV002298275] ChrX:77971686 [GRCh38]
ChrX:77227183 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3946dup (p.Ile1316fs) duplication Inborn genetic diseases [RCV002357592] ChrX:78042727..78042728 [GRCh38]
ChrX:77298225..77298226 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.167T>G (p.Leu56Arg) single nucleotide variant Inborn genetic diseases [RCV002406019] ChrX:77988288 [GRCh38]
ChrX:77243784 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1296_1297del (p.Gly433fs) microsatellite Menkes kinky-hair syndrome [RCV002306618] ChrX:77989915..77989916 [GRCh38]
ChrX:77245411..77245412 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2110C>T (p.Gln704Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV002306641] ChrX:78011612 [GRCh38]
ChrX:77267109 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.420_423delinsCTGTCTCTTATACACAT (p.Lys140fs) indel Menkes kinky-hair syndrome [RCV002306729] ChrX:77988541..77988544 [GRCh38]
ChrX:77244037..77244040 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1148T>C (p.Ile383Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV002296486] ChrX:77989770 [GRCh38]
ChrX:77245266 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2534G>A (p.Gly845Glu) single nucleotide variant Inborn genetic diseases [RCV002455739] ChrX:78015789 [GRCh38]
ChrX:77271286 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.393T>A (p.Pro131=) single nucleotide variant Inborn genetic diseases [RCV002357577]|Menkes kinky-hair syndrome [RCV003094449] ChrX:77988514 [GRCh38]
ChrX:77244010 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.140dup (p.Asn47fs) duplication Menkes kinky-hair syndrome [RCV002307138] ChrX:77988254..77988255 [GRCh38]
ChrX:77243750..77243751 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2167G>C (p.Val723Leu) single nucleotide variant Inborn genetic diseases [RCV002432667]|Menkes kinky-hair syndrome [RCV003775126] ChrX:78011669 [GRCh38]
ChrX:77267166 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1239A>C (p.Ala413=) single nucleotide variant Inborn genetic diseases [RCV002370713] ChrX:77989861 [GRCh38]
ChrX:77245357 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1769G>A (p.Arg590Lys) single nucleotide variant Inborn genetic diseases [RCV002401780] ChrX:78009163 [GRCh38]
ChrX:77264660 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1614_1615delinsCAT (p.Gln538fs) indel Menkes kinky-hair syndrome [RCV002307214] ChrX:78003143..78003144 [GRCh38]
ChrX:77258640..77258641 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3799C>T (p.Gln1267Ter) single nucleotide variant Inborn genetic diseases [RCV002363937] ChrX:78040731 [GRCh38]
ChrX:77296229 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.256_262del (p.Asp86fs) deletion Menkes kinky-hair syndrome [RCV002309139] ChrX:77988375..77988381 [GRCh38]
ChrX:77243871..77243877 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1419_1420insCTCT (p.Gly474fs) insertion Menkes kinky-hair syndrome [RCV002309170] ChrX:77998560..77998561 [GRCh38]
ChrX:77254057..77254058 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2224A>T (p.Lys742Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV002309199] ChrX:78012930 [GRCh38]
ChrX:77268427 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala) single nucleotide variant Inborn genetic diseases [RCV002401012]|Menkes kinky-hair syndrome [RCV003097014]|not specified [RCV003988006] ChrX:78003147 [GRCh38]
ChrX:77258644 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.499C>G (p.Gln167Glu) single nucleotide variant Inborn genetic diseases [RCV002342991] ChrX:77988620 [GRCh38]
ChrX:77244116 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2521C>T (p.Leu841Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV002302292] ChrX:78015776 [GRCh38]
ChrX:77271273 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1667T>C (p.Ile556Thr) single nucleotide variant Inborn genetic diseases [RCV002403917]|Menkes kinky-hair syndrome [RCV003774449] ChrX:78003196 [GRCh38]
ChrX:77258693 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3157A>G (p.Thr1053Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV002303414] ChrX:78031445 [GRCh38]
ChrX:77286943 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2207del (p.Tyr736fs) deletion Menkes kinky-hair syndrome [RCV002308183] ChrX:78012913 [GRCh38]
ChrX:77268410 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1768A>T (p.Arg590Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV002306848] ChrX:78009162 [GRCh38]
ChrX:77264659 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3091C>T (p.Pro1031Ser) single nucleotide variant Inborn genetic diseases [RCV002325810] ChrX:78029424 [GRCh38]
ChrX:77284921 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1537dup (p.Glu513fs) duplication Menkes kinky-hair syndrome [RCV002307056] ChrX:77998675..77998676 [GRCh38]
ChrX:77254172..77254173 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2334dup (p.Thr779fs) duplication Menkes kinky-hair syndrome [RCV002307090] ChrX:78013038..78013039 [GRCh38]
ChrX:77268535..77268536 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.4021G>A (p.Val1341Ile) single nucleotide variant Inborn genetic diseases [RCV002359493]|Menkes kinky-hair syndrome [RCV003094487] ChrX:78043332 [GRCh38]
ChrX:77298830 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.281C>T (p.Ala94Val) single nucleotide variant Inborn genetic diseases [RCV002441801]|Menkes kinky-hair syndrome [RCV003102753] ChrX:77988402 [GRCh38]
ChrX:77243898 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1916G>A (p.Ser639Asn) single nucleotide variant Inborn genetic diseases [RCV002410623]|Menkes kinky-hair syndrome [RCV003774562] ChrX:78011222 [GRCh38]
ChrX:77266719 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1857C>G (p.Ile619Met) single nucleotide variant Inborn genetic diseases [RCV002413112]|Menkes kinky-hair syndrome [RCV003097300] ChrX:78009251 [GRCh38]
ChrX:77264748 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1415_1416insATACA (p.Lys473fs) insertion Menkes kinky-hair syndrome [RCV002309042] ChrX:77998556..77998557 [GRCh38]
ChrX:77254053..77254054 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.4043C>A (p.Ser1348Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV002309249] ChrX:78043354 [GRCh38]
ChrX:77298852 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.109C>T (p.His37Tyr) single nucleotide variant Inborn genetic diseases [RCV002450602]|not provided [RCV005416638] ChrX:77971750 [GRCh38]
ChrX:77227247 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.360_363delinsAA (p.Gln121fs) indel Menkes kinky-hair syndrome [RCV002309568] ChrX:77988481..77988484 [GRCh38]
ChrX:77243977..77243980 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3612_3613del (p.Glu1205fs) deletion Menkes kinky-hair syndrome [RCV002309703] ChrX:78038936..78038937 [GRCh38]
ChrX:77294434..77294435 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1877G>A (p.Gly626Asp) single nucleotide variant Inborn genetic diseases [RCV002415219]|not provided [RCV005256865] ChrX:78011183 [GRCh38]
ChrX:77266680 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg) single nucleotide variant Inborn genetic diseases [RCV002320433]|Menkes kinky-hair syndrome [RCV003099210]|not provided [RCV004779289] ChrX:78031404 [GRCh38]
ChrX:77286902 [GRCh37]
ChrX:Xq21.1		 benign|uncertain significance
NM_000052.7(ATP7A):c.353T>C (p.Ile118Thr) single nucleotide variant Inborn genetic diseases [RCV002459479] ChrX:77988474 [GRCh38]
ChrX:77243970 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1257_1267del (p.Glu420fs) deletion Menkes kinky-hair syndrome [RCV002309754] ChrX:77989879..77989889 [GRCh38]
ChrX:77245375..77245385 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.348del (p.Ile118fs) deletion Menkes kinky-hair syndrome [RCV002309937] ChrX:77988468 [GRCh38]
ChrX:77243964 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1465_1466del (p.Lys489fs) deletion Menkes kinky-hair syndrome [RCV002310003] ChrX:77998606..77998607 [GRCh38]
ChrX:77254103..77254104 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1424_1425del (p.Met475fs) deletion Menkes kinky-hair syndrome [RCV002307937] ChrX:77998565..77998566 [GRCh38]
ChrX:77254062..77254063 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2164_2167del (p.Pro722fs) deletion Menkes kinky-hair syndrome [RCV002307976] ChrX:78011666..78011669 [GRCh38]
ChrX:77267163..77267166 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2790C>G (p.Ile930Met) single nucleotide variant Menkes kinky-hair syndrome [RCV002301603] ChrX:78020953 [GRCh38]
ChrX:77276450 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.973_974del (p.Val326fs) deletion Menkes kinky-hair syndrome [RCV002308048] ChrX:77989594..77989595 [GRCh38]
ChrX:77245090..77245091 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1924del (p.Asp642fs) deletion Menkes kinky-hair syndrome [RCV002309920] ChrX:78011230 [GRCh38]
ChrX:77266727 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.338_339del (p.Val113fs) microsatellite Menkes kinky-hair syndrome [RCV002306555] ChrX:77988456..77988457 [GRCh38]
ChrX:77243952..77243953 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2953del (p.Ile985fs) deletion Menkes kinky-hair syndrome [RCV002310482] ChrX:78029285 [GRCh38]
ChrX:77284782 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3499_3500delinsA (p.Ala1167fs) indel Menkes kinky-hair syndrome [RCV002310537] ChrX:78033809..78033810 [GRCh38]
ChrX:77289307..77289308 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1808A>G (p.Lys603Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV002297832] ChrX:78009202 [GRCh38]
ChrX:77264699 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.469_470del (p.Ser157fs) deletion Menkes kinky-hair syndrome [RCV002308144] ChrX:77988590..77988591 [GRCh38]
ChrX:77244086..77244087 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2051del (p.Asn684fs) deletion Menkes kinky-hair syndrome [RCV002310136] ChrX:78011552 [GRCh38]
ChrX:77267049 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3692del (p.Thr1231fs) deletion Menkes kinky-hair syndrome [RCV002310242] ChrX:78040624 [GRCh38]
ChrX:77296122 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.526A>T (p.Lys176Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV002306585] ChrX:77988647 [GRCh38]
ChrX:77244143 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3518_3519del (p.Leu1173fs) deletion Menkes kinky-hair syndrome [RCV002310378] ChrX:78038842..78038843 [GRCh38]
ChrX:77294340..77294341 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3289A>T (p.Lys1097Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV002310436] ChrX:78031577 [GRCh38]
ChrX:77287075 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.412C>T (p.Gln138Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV002310520] ChrX:77988533 [GRCh38]
ChrX:77244029 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met) single nucleotide variant Inborn genetic diseases [RCV002443551]|Menkes kinky-hair syndrome [RCV003101168]|not provided [RCV003318724] ChrX:78012957 [GRCh38]
ChrX:77268454 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2261_2262del (p.Thr754fs) deletion Menkes kinky-hair syndrome [RCV002307061] ChrX:78012967..78012968 [GRCh38]
ChrX:77268464..77268465 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1172del (p.Cys391fs) deletion Menkes kinky-hair syndrome [RCV002307114] ChrX:77989794 [GRCh38]
ChrX:77245290 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.4226T>C (p.Leu1409Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV002296198] ChrX:78045572 [GRCh38]
ChrX:77301069 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1932A>G (p.Lys644=) single nucleotide variant Menkes kinky-hair syndrome [RCV002904182] ChrX:78011238 [GRCh38]
ChrX:77266735 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.885T>C (p.Ile295=) single nucleotide variant Menkes kinky-hair syndrome [RCV002862580] ChrX:77989507 [GRCh38]
ChrX:77245003 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.358C>T (p.Pro120Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV003074399] ChrX:77988479 [GRCh38]
ChrX:77243975 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3177A>C (p.Val1059=) single nucleotide variant Menkes kinky-hair syndrome [RCV002861524] ChrX:78031465 [GRCh38]
ChrX:77286963 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4401A>G (p.Leu1467=) single nucleotide variant Menkes kinky-hair syndrome [RCV002904712] ChrX:78046468 [GRCh38]
ChrX:77301965 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.3141A>C (p.Gly1047=) single nucleotide variant Menkes kinky-hair syndrome [RCV003075206] ChrX:78031429 [GRCh38]
ChrX:77286927 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2380G>C (p.Gly794Arg) single nucleotide variant not provided [RCV002511334] ChrX:78013086 [GRCh38]
ChrX:77268583 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1592G>A (p.Arg531Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV002837470] ChrX:78003121 [GRCh38]
ChrX:77258618 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.180G>A (p.Lys60=) single nucleotide variant Menkes kinky-hair syndrome [RCV002815162] ChrX:77988301 [GRCh38]
ChrX:77243797 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.555T>C (p.Cys185=) single nucleotide variant Menkes kinky-hair syndrome [RCV002861927] ChrX:77988676 [GRCh38]
ChrX:77244172 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2666T>C (p.Val889Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV002841984] ChrX:78020283 [GRCh38]
ChrX:77275780 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1843C>G (p.Pro615Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV002970936] ChrX:78009237 [GRCh38]
ChrX:77264734 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1256T>C (p.Val419Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV002775832]|not provided [RCV003146631] ChrX:77989878 [GRCh38]
ChrX:77245374 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2076_2078del (p.Met692del) deletion Menkes kinky-hair syndrome [RCV002843540] ChrX:78011576..78011578 [GRCh38]
ChrX:77267073..77267075 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.674T>A (p.Met225Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV002909010] ChrX:77989296 [GRCh38]
ChrX:77244792 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3658+4A>T single nucleotide variant Menkes kinky-hair syndrome [RCV003035241] ChrX:78038986 [GRCh38]
ChrX:77294484 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1939A>G (p.Ile647Val) single nucleotide variant Inborn genetic diseases [RCV002864523] ChrX:78011245 [GRCh38]
ChrX:77266742 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.677A>T (p.Lys226Ile) single nucleotide variant Inborn genetic diseases [RCV002793467] ChrX:77989299 [GRCh38]
ChrX:77244795 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2173-4G>T single nucleotide variant Menkes kinky-hair syndrome [RCV002636048] ChrX:78012875 [GRCh38]
ChrX:77268372 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2013G>A (p.Met671Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV002908425] ChrX:78011515 [GRCh38]
ChrX:77267012 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3488T>A (p.Met1163Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV002948139] ChrX:78033798 [GRCh38]
ChrX:77289296 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_001029891.3(PGAM4):c.286A>G (p.Thr96Ala) single nucleotide variant not specified [RCV004145438] ChrX:77969353 [GRCh38]
ChrX:77224850 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3494T>C (p.Ile1165Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV002996870] ChrX:78033804 [GRCh38]
ChrX:77289302 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3072A>G (p.Ile1024Met) single nucleotide variant Menkes kinky-hair syndrome [RCV002685962]|not provided [RCV004790235] ChrX:78029405 [GRCh38]
ChrX:77284902 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.3867T>G (p.Leu1289=) single nucleotide variant Menkes kinky-hair syndrome [RCV003011907] ChrX:78042650 [GRCh38]
ChrX:77298148 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3993G>A (p.Val1331=) single nucleotide variant Menkes kinky-hair syndrome [RCV003014614] ChrX:78042776 [GRCh38]
ChrX:77298274 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2345A>G (p.Asp782Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV002617100] ChrX:78013051 [GRCh38]
ChrX:77268548 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.400G>A (p.Val134Met) single nucleotide variant Menkes kinky-hair syndrome [RCV003074522] ChrX:77988521 [GRCh38]
ChrX:77244017 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2355T>A (p.Pro785=) single nucleotide variant Menkes kinky-hair syndrome [RCV002771472] ChrX:78013061 [GRCh38]
ChrX:77268558 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1069T>C (p.Ser357Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV002904964] ChrX:77989691 [GRCh38]
ChrX:77245187 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2628G>A (p.Gly876=) single nucleotide variant Menkes kinky-hair syndrome [RCV002750752] ChrX:78020245 [GRCh38]
ChrX:77275742 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3518T>C (p.Leu1173Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV002967999] ChrX:78038842 [GRCh38]
ChrX:77294340 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2407-10del deletion Menkes kinky-hair syndrome [RCV002881311] ChrX:78014649 [GRCh38]
ChrX:77270146 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.120G>A (p.Lys40=) single nucleotide variant Menkes kinky-hair syndrome [RCV003016116] ChrX:77971761 [GRCh38]
ChrX:77227258 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4255G>A (p.Glu1419Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV002686249] ChrX:78046322 [GRCh38]
ChrX:77301819 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2205T>A (p.Ala735=) single nucleotide variant Menkes kinky-hair syndrome [RCV002838068] ChrX:78012911 [GRCh38]
ChrX:77268408 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3423T>C (p.Asn1141=) single nucleotide variant Menkes kinky-hair syndrome [RCV002970787] ChrX:78033733 [GRCh38]
ChrX:77289231 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4006-13T>C single nucleotide variant Menkes kinky-hair syndrome [RCV002861804] ChrX:78043304 [GRCh38]
ChrX:77298802 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.334G>A (p.Gly112Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV002816541] ChrX:77988455 [GRCh38]
ChrX:77243951 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2173-15A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003076334] ChrX:78012864 [GRCh38]
ChrX:77268361 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.302A>G (p.Asp101Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV002903653] ChrX:77988423 [GRCh38]
ChrX:77243919 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1060A>T (p.Thr354Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV003073656] ChrX:77989682 [GRCh38]
ChrX:77245178 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3111+19C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003075885] ChrX:78029463 [GRCh38]
ChrX:77284960 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2068G>C (p.Glu690Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV002907929]|not provided [RCV004784074]|not specified [RCV003331396] ChrX:78011570 [GRCh38]
ChrX:77267067 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3604T>G (p.Phe1202Val) single nucleotide variant Menkes kinky-hair syndrome [RCV002907754] ChrX:78038928 [GRCh38]
ChrX:77294426 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3641T>C (p.Val1214Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV003075738]|not provided [RCV005414661] ChrX:78038965 [GRCh38]
ChrX:77294463 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3801+11G>A single nucleotide variant Menkes kinky-hair syndrome [RCV002819528] ChrX:78040744 [GRCh38]
ChrX:77296242 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4166G>C (p.Gly1389Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV002614731] ChrX:78045512 [GRCh38]
ChrX:77301009 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1744A>G (p.Ile582Val) single nucleotide variant Inborn genetic diseases [RCV002708062] ChrX:78009138 [GRCh38]
ChrX:77264635 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2627-13A>T single nucleotide variant Menkes kinky-hair syndrome [RCV003001999] ChrX:78020231 [GRCh38]
ChrX:77275728 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV002953115] ChrX:78011251 [GRCh38]
ChrX:77266748 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2679C>G (p.Ser893=) single nucleotide variant Menkes kinky-hair syndrome [RCV002867710] ChrX:78020296 [GRCh38]
ChrX:77275793 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3162A>G (p.Pro1054=) single nucleotide variant Menkes kinky-hair syndrome [RCV002760183] ChrX:78031450 [GRCh38]
ChrX:77286948 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3727C>T (p.Leu1243=) single nucleotide variant Menkes kinky-hair syndrome [RCV002913865] ChrX:78040659 [GRCh38]
ChrX:77296157 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4011T>C (p.Asp1337=) single nucleotide variant Menkes kinky-hair syndrome [RCV002571991] ChrX:78043322 [GRCh38]
ChrX:77298820 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.4005+12G>A single nucleotide variant Menkes kinky-hair syndrome [RCV002592302] ChrX:78042800 [GRCh38]
ChrX:77298298 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.610+15G>T single nucleotide variant Menkes kinky-hair syndrome [RCV003022020] ChrX:77988746 [GRCh38]
ChrX:77244242 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1669G>C (p.Glu557Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV002640345] ChrX:78003198 [GRCh38]
ChrX:77258695 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1966G>C (p.Val656Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV002800156] ChrX:78011468 [GRCh38]
ChrX:77266965 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2646T>G (p.Ala882=) single nucleotide variant Menkes kinky-hair syndrome [RCV003037643] ChrX:78020263 [GRCh38]
ChrX:77275760 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4466T>C (p.Val1489Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV002785978] ChrX:78046533 [GRCh38]
ChrX:77302030 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3846G>A (p.Lys1282=) single nucleotide variant Menkes kinky-hair syndrome [RCV002620110]|not provided [RCV004779440] ChrX:78042629 [GRCh38]
ChrX:77298127 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1207C>T (p.Pro403Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV002846425] ChrX:77989829 [GRCh38]
ChrX:77245325 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.656T>G (p.Leu219Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV002847708] ChrX:77989278 [GRCh38]
ChrX:77244774 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1609A>G (p.Ile537Val) single nucleotide variant Inborn genetic diseases [RCV002868594] ChrX:78003138 [GRCh38]
ChrX:77258635 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2624C>G (p.Thr875Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV002976231] ChrX:78015879 [GRCh38]
ChrX:77271376 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2253G>T (p.Val751=) single nucleotide variant Menkes kinky-hair syndrome [RCV002847315] ChrX:78012959 [GRCh38]
ChrX:77268456 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1869+17del deletion Menkes kinky-hair syndrome [RCV002621801] ChrX:78009278 [GRCh38]
ChrX:77264775 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4113C>T (p.Pro1371=) single nucleotide variant Menkes kinky-hair syndrome [RCV002780501] ChrX:78043424 [GRCh38]
ChrX:77298922 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1070C>T (p.Ser357Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV002796183] ChrX:77989692 [GRCh38]
ChrX:77245188 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4087C>G (p.Leu1363Val) single nucleotide variant Inborn genetic diseases [RCV002911134] ChrX:78043398 [GRCh38]
ChrX:77298896 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3715G>A (p.Ala1239Thr) single nucleotide variant Inborn genetic diseases [RCV002924034] ChrX:78040647 [GRCh38]
ChrX:77296145 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.849T>A (p.Ile283=) single nucleotide variant Menkes kinky-hair syndrome [RCV002620109] ChrX:77989471 [GRCh38]
ChrX:77244967 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3630T>C (p.Gly1210=) single nucleotide variant Menkes kinky-hair syndrome [RCV002866343] ChrX:78038954 [GRCh38]
ChrX:77294452 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV002820783] ChrX:77988290 [GRCh38]
ChrX:77243786 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1629A>G (p.Ala543=) single nucleotide variant Menkes kinky-hair syndrome [RCV003078194] ChrX:78003158 [GRCh38]
ChrX:77258655 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2538T>C (p.Asp846=) single nucleotide variant Menkes kinky-hair syndrome [RCV002760727] ChrX:78015793 [GRCh38]
ChrX:77271290 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2422G>T (p.Ala808Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV003078793] ChrX:78014677 [GRCh38]
ChrX:77270174 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1302A>G (p.Ala434=) single nucleotide variant Menkes kinky-hair syndrome [RCV002866200] ChrX:77989924 [GRCh38]
ChrX:77245420 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2626+12C>G single nucleotide variant Menkes kinky-hair syndrome [RCV002636676] ChrX:78015893 [GRCh38]
ChrX:77271390 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.61T>C (p.Ser21Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV002923050] ChrX:77971702 [GRCh38]
ChrX:77227199 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2658C>T (p.Gly886=) single nucleotide variant Menkes kinky-hair syndrome [RCV003053760] ChrX:78020275 [GRCh38]
ChrX:77275772 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2716C>T (p.His906Tyr) single nucleotide variant Menkes kinky-hair syndrome [RCV002570911] ChrX:78020333 [GRCh38]
ChrX:77275830 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1336+3A>G single nucleotide variant Menkes kinky-hair syndrome [RCV002824631] ChrX:77989961 [GRCh38]
ChrX:77245457 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.783A>G (p.Lys261=) single nucleotide variant Menkes kinky-hair syndrome [RCV003038858] ChrX:77989405 [GRCh38]
ChrX:77244901 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.3507C>T (p.Ile1169=) single nucleotide variant Menkes kinky-hair syndrome [RCV002885440] ChrX:78033817 [GRCh38]
ChrX:77289315 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2446del (p.Gln816fs) deletion Menkes kinky-hair syndrome [RCV002760856] ChrX:78014701 [GRCh38]
ChrX:77270198 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3969T>A (p.Asp1323Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV002736759] ChrX:78042752 [GRCh38]
ChrX:77298250 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1988C>T (p.Pro663Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV003038899] ChrX:78011490 [GRCh38]
ChrX:77266987 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1958C>G (p.Ser653Cys) single nucleotide variant not provided [RCV003036987] ChrX:78011460 [GRCh38]
ChrX:77266957 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1336+7dup duplication Menkes kinky-hair syndrome [RCV003038943] ChrX:77989964..77989965 [GRCh38]
ChrX:77245460..77245461 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3761C>A (p.Thr1254Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV002923768] ChrX:78040693 [GRCh38]
ChrX:77296191 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.737A>T (p.Lys246Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003055211] ChrX:77989359 [GRCh38]
ChrX:77244855 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3281A>T (p.Lys1094Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV002820752] ChrX:78031569 [GRCh38]
ChrX:77287067 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3294+7T>G single nucleotide variant Menkes kinky-hair syndrome [RCV002695504] ChrX:78031589 [GRCh38]
ChrX:77287087 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1659C>T (p.Ala553=) single nucleotide variant Menkes kinky-hair syndrome [RCV002570024] ChrX:78003188 [GRCh38]
ChrX:77258685 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4241C>T (p.Thr1414Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003077843] ChrX:78046308 [GRCh38]
ChrX:77301805 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.553T>A (p.Cys185Ser) single nucleotide variant not provided [RCV002510060] ChrX:77988674 [GRCh38]
ChrX:77244170 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.543C>T (p.Thr181=) single nucleotide variant Menkes kinky-hair syndrome [RCV002621243] ChrX:77988664 [GRCh38]
ChrX:77244160 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.610+2T>C single nucleotide variant Menkes kinky-hair syndrome [RCV002866988] ChrX:77988733 [GRCh38]
ChrX:77244229 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1349C>T (p.Pro450Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV003084643]|not provided [RCV004763537] ChrX:77998490 [GRCh38]
ChrX:77253987 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2916+11T>G single nucleotide variant Menkes kinky-hair syndrome [RCV002852426] ChrX:78021090 [GRCh38]
ChrX:77276587 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.675G>A (p.Met225Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003085920] ChrX:77989297 [GRCh38]
ChrX:77244793 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2499-7T>A single nucleotide variant Menkes kinky-hair syndrome [RCV003023945] ChrX:78015747 [GRCh38]
ChrX:77271244 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3952A>G (p.Ile1318Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003084176]|not provided [RCV004790358] ChrX:78042735 [GRCh38]
ChrX:77298233 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile) single nucleotide variant Cutis laxa, X-linked [RCV003333231]|Menkes kinky-hair syndrome [RCV003084952]|Menkes kinky-hair syndrome [RCV003333232]|X-linked distal spinal muscular atrophy type 3 [RCV003333233] ChrX:78012948 [GRCh38]
ChrX:77268445 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.236A>G (p.Asp79Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV002745660] ChrX:77988357 [GRCh38]
ChrX:77243853 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.611-6A>G single nucleotide variant Menkes kinky-hair syndrome [RCV002667256] ChrX:77989227 [GRCh38]
ChrX:77244723 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2898T>C (p.Ile966=) single nucleotide variant Menkes kinky-hair syndrome [RCV003007537] ChrX:78021061 [GRCh38]
ChrX:77276558 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3424A>G (p.Ile1142Val) single nucleotide variant Menkes kinky-hair syndrome [RCV002954003] ChrX:78033734 [GRCh38]
ChrX:77289232 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.870A>C (p.Ser290=) single nucleotide variant Menkes kinky-hair syndrome [RCV003056150] ChrX:77989492 [GRCh38]
ChrX:77244988 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2033T>G (p.Phe678Cys) single nucleotide variant Menkes kinky-hair syndrome [RCV003022295] ChrX:78011535 [GRCh38]
ChrX:77267032 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4123+17T>G single nucleotide variant Menkes kinky-hair syndrome [RCV002624438] ChrX:78043451 [GRCh38]
ChrX:77298949 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1947-18T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003083458] ChrX:78011431 [GRCh38]
ChrX:77266928 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.897del (p.Leu299fs) deletion Menkes kinky-hair syndrome [RCV002917342] ChrX:77989519 [GRCh38]
ChrX:77245015 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.56G>A (p.Cys19Tyr) single nucleotide variant Inborn genetic diseases [RCV004072109]|Menkes kinky-hair syndrome [RCV002664044] ChrX:77971697 [GRCh38]
ChrX:77227194 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.402G>C (p.Val134=) single nucleotide variant Menkes kinky-hair syndrome [RCV002828218] ChrX:77988523 [GRCh38]
ChrX:77244019 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1166A>G (p.Asn389Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV002829112] ChrX:77989788 [GRCh38]
ChrX:77245284 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3517C>T (p.Leu1173Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV002917234] ChrX:78038841 [GRCh38]
ChrX:77294339 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1050A>G (p.Glu350=) single nucleotide variant Menkes kinky-hair syndrome [RCV002871830] ChrX:77989672 [GRCh38]
ChrX:77245168 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3295-14T>C single nucleotide variant Menkes kinky-hair syndrome [RCV002710871] ChrX:78033591 [GRCh38]
ChrX:77289089 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3258C>T (p.His1086=) single nucleotide variant Menkes kinky-hair syndrome [RCV003057206] ChrX:78031546 [GRCh38]
ChrX:77287044 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2870T>A (p.Ile957Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV002625189] ChrX:78021033 [GRCh38]
ChrX:77276530 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1504T>C (p.Cys502Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV002890514] ChrX:77998645 [GRCh38]
ChrX:77254142 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.906C>T (p.Leu302=) single nucleotide variant Menkes kinky-hair syndrome [RCV003056488] ChrX:77989528 [GRCh38]
ChrX:77245024 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1990G>C (p.Val664Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV003007149] ChrX:78011492 [GRCh38]
ChrX:77266989 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.504T>C (p.Ala168=) single nucleotide variant Menkes kinky-hair syndrome [RCV002928814] ChrX:77988625 [GRCh38]
ChrX:77244121 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3111+13C>G single nucleotide variant Menkes kinky-hair syndrome [RCV002711388] ChrX:78029457 [GRCh38]
ChrX:77284954 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1500T>A (p.Ala500=) single nucleotide variant Menkes kinky-hair syndrome [RCV003057927] ChrX:77998641 [GRCh38]
ChrX:77254138 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1297G>A (p.Gly433Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV002663620] ChrX:77989919 [GRCh38]
ChrX:77245415 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1443G>A (p.Lys481=) single nucleotide variant Menkes kinky-hair syndrome [RCV002711751] ChrX:77998584 [GRCh38]
ChrX:77254081 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2782-6T>C single nucleotide variant Menkes kinky-hair syndrome [RCV002932053] ChrX:78020939 [GRCh38]
ChrX:77276436 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3927G>A (p.Leu1309=) single nucleotide variant Menkes kinky-hair syndrome [RCV002891196] ChrX:78042710 [GRCh38]
ChrX:77298208 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1136C>G (p.Thr379Ser) single nucleotide variant Inborn genetic diseases [RCV004965964]|Menkes kinky-hair syndrome [RCV002594864] ChrX:77989758 [GRCh38]
ChrX:77245254 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4277T>C (p.Ile1426Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003084352] ChrX:78046344 [GRCh38]
ChrX:77301841 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.954_955delinsAT (p.Val319Leu) indel Menkes kinky-hair syndrome [RCV002710397]|not provided [RCV003481326] ChrX:77989576..77989577 [GRCh38]
ChrX:77245072..77245073 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3659-7A>G single nucleotide variant Menkes kinky-hair syndrome [RCV002983019] ChrX:78040584 [GRCh38]
ChrX:77296082 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2936C>G (p.Ser979Cys) single nucleotide variant Menkes kinky-hair syndrome [RCV002700725] ChrX:78029269 [GRCh38]
ChrX:77284766 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2214A>G (p.Ala738=) single nucleotide variant Menkes kinky-hair syndrome [RCV002875602] ChrX:78012920 [GRCh38]
ChrX:77268417 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3111+10T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003057953] ChrX:78029454 [GRCh38]
ChrX:77284951 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.898T>C (p.Ser300Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV002829530] ChrX:77989520 [GRCh38]
ChrX:77245016 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3487A>G (p.Met1163Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003058956] ChrX:78033797 [GRCh38]
ChrX:77289295 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2472T>G (p.Thr824=) single nucleotide variant Menkes kinky-hair syndrome [RCV003040262] ChrX:78014727 [GRCh38]
ChrX:77270224 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1128A>G (p.Thr376=) single nucleotide variant Menkes kinky-hair syndrome [RCV002667442] ChrX:77989750 [GRCh38]
ChrX:77245246 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.373G>C (p.Val125Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV002711780] ChrX:77988494 [GRCh38]
ChrX:77243990 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1285G>T (p.Glu429Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV002871867] ChrX:77989907 [GRCh38]
ChrX:77245403 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3761C>T (p.Thr1254Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003025267] ChrX:78040693 [GRCh38]
ChrX:77296191 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1402A>C (p.Asn468His) single nucleotide variant Menkes kinky-hair syndrome [RCV002712045] ChrX:77998543 [GRCh38]
ChrX:77254040 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.939G>A (p.Glu313=) single nucleotide variant Menkes kinky-hair syndrome [RCV002572979] ChrX:77989561 [GRCh38]
ChrX:77245057 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2142G>C (p.Leu714Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV003005753] ChrX:78011644 [GRCh38]
ChrX:77267141 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3118G>A (p.Val1040Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV002575468] ChrX:78031406 [GRCh38]
ChrX:77286904 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3989A>G (p.Asp1330Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV002918348] ChrX:78042772 [GRCh38]
ChrX:77298270 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2938C>G (p.Arg980Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV002805295] ChrX:78029271 [GRCh38]
ChrX:77284768 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.222T>C (p.Val74=) single nucleotide variant Menkes kinky-hair syndrome [RCV003005585] ChrX:77988343 [GRCh38]
ChrX:77243839 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2782-17_2782-15del microsatellite Menkes kinky-hair syndrome [RCV002932462] ChrX:78020923..78020925 [GRCh38]
ChrX:77276420..77276422 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003064740]|Menkes kinky-hair syndrome [RCV003312069] ChrX:77988620 [GRCh38]
ChrX:77244116 [GRCh37]
ChrX:Xq21.1		 pathogenic|uncertain significance
NM_000052.7(ATP7A):c.687T>C (p.Ile229=) single nucleotide variant Menkes kinky-hair syndrome [RCV003088853] ChrX:77989309 [GRCh38]
ChrX:77244805 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1211G>T (p.Gly404Val) single nucleotide variant Menkes kinky-hair syndrome [RCV002632974] ChrX:77989833 [GRCh38]
ChrX:77245329 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1003A>G (p.Ile335Val) single nucleotide variant Menkes kinky-hair syndrome [RCV002720275]|not provided [RCV004784070] ChrX:77989625 [GRCh38]
ChrX:77245121 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.558T>G (p.Thr186=) single nucleotide variant Menkes kinky-hair syndrome [RCV002631237] ChrX:77988679 [GRCh38]
ChrX:77244175 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4319T>G (p.Ile1440Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV002676682] ChrX:78046386 [GRCh38]
ChrX:77301883 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2588T>C (p.Ile863Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003087599] ChrX:78015843 [GRCh38]
ChrX:77271340 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_001029891.3(PGAM4):c.28C>T (p.Arg10Trp) single nucleotide variant not specified [RCV004221392] ChrX:77969611 [GRCh38]
ChrX:77225108 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1602T>G (p.Pro534=) single nucleotide variant Menkes kinky-hair syndrome [RCV002579852]|not provided [RCV003439024] ChrX:78003131 [GRCh38]
ChrX:77258628 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1947-16A>C single nucleotide variant Menkes kinky-hair syndrome [RCV003091551] ChrX:78011433 [GRCh38]
ChrX:77266930 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2814T>C (p.Ser938=) single nucleotide variant Menkes kinky-hair syndrome [RCV003046146] ChrX:78020977 [GRCh38]
ChrX:77276474 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs) insertion Menkes kinky-hair syndrome [RCV002811279]|Menkes kinky-hair syndrome [RCV003331393] ChrX:77988587..77988588 [GRCh38]
ChrX:77244083..77244084 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1984A>T (p.Ile662Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV002877445] ChrX:78011486 [GRCh38]
ChrX:77266983 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1177C>G (p.Gln393Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV002628440] ChrX:77989799 [GRCh38]
ChrX:77245295 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.120+8A>T single nucleotide variant Menkes kinky-hair syndrome [RCV002807029] ChrX:77971769 [GRCh38]
ChrX:77227266 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2859C>G (p.Leu953=) single nucleotide variant Menkes kinky-hair syndrome [RCV003008495] ChrX:78021022 [GRCh38]
ChrX:77276519 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2635A>T (p.Met879Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV003060858] ChrX:78020252 [GRCh38]
ChrX:77275749 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1780T>C (p.Tyr594His) single nucleotide variant Menkes kinky-hair syndrome [RCV003045941] ChrX:78009174 [GRCh38]
ChrX:77264671 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1306G>C (p.Glu436Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV002962837] ChrX:77989928 [GRCh38]
ChrX:77245424 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1340C>T (p.Thr447Met) single nucleotide variant Menkes kinky-hair syndrome [RCV002630662] ChrX:77998481 [GRCh38]
ChrX:77253978 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4319T>C (p.Ile1440Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003028575] ChrX:78046386 [GRCh38]
ChrX:77301883 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.610+20T>C single nucleotide variant Menkes kinky-hair syndrome [RCV002937986] ChrX:77988751 [GRCh38]
ChrX:77244247 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3498T>A (p.Asp1166Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV002577139] ChrX:78033808 [GRCh38]
ChrX:77289306 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3247A>G (p.Asn1083Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV002806648] ChrX:78031535 [GRCh38]
ChrX:77287033 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1638C>A (p.Ile546=) single nucleotide variant Menkes kinky-hair syndrome [RCV002579355] ChrX:78003167 [GRCh38]
ChrX:77258664 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_001029891.3(PGAM4):c.550G>A (p.Ala184Thr) single nucleotide variant not specified [RCV004148046] ChrX:77969089 [GRCh38]
ChrX:77224586 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2627-16T>G single nucleotide variant Menkes kinky-hair syndrome [RCV003060251] ChrX:78020228 [GRCh38]
ChrX:77275725 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2887A>G (p.Asn963Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV003060808] ChrX:78021050 [GRCh38]
ChrX:77276547 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1764A>G (p.Lys588=) single nucleotide variant Menkes kinky-hair syndrome [RCV002770184] ChrX:78009158 [GRCh38]
ChrX:77264655 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.678A>G (p.Lys226=) single nucleotide variant Menkes kinky-hair syndrome [RCV003060622] ChrX:77989300 [GRCh38]
ChrX:77244796 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.725C>G (p.Pro242Arg) single nucleotide variant Inborn genetic diseases [RCV005288775]|Menkes kinky-hair syndrome [RCV002598231]|not specified [RCV005239463] ChrX:77989347 [GRCh38]
ChrX:77244843 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1867G>C (p.Glu623Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV003008547] ChrX:78009261 [GRCh38]
ChrX:77264758 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2918G>T (p.Gly973Val) single nucleotide variant Menkes kinky-hair syndrome [RCV002646012] ChrX:78029251 [GRCh38]
ChrX:77284748 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3801+20G>A single nucleotide variant Menkes kinky-hair syndrome [RCV002650210] ChrX:78040753 [GRCh38]
ChrX:77296251 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3685G>A (p.Ala1229Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003048205] ChrX:78040617 [GRCh38]
ChrX:77296115 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.484G>T (p.Asp162Tyr) single nucleotide variant Menkes kinky-hair syndrome [RCV002832975] ChrX:77988605 [GRCh38]
ChrX:77244101 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3069C>A (p.Gly1023=) single nucleotide variant Menkes kinky-hair syndrome [RCV003030761] ChrX:78029402 [GRCh38]
ChrX:77284899 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.657_661del (p.Ile220fs) deletion Menkes kinky-hair syndrome [RCV003064742]|Menkes kinky-hair syndrome [RCV003312070] ChrX:77989275..77989279 [GRCh38]
ChrX:77244771..77244775 [GRCh37]
ChrX:Xq21.1		 pathogenic|uncertain significance
NM_000052.7(ATP7A):c.2293C>T (p.Leu765Phe) single nucleotide variant Inborn genetic diseases [RCV002900755]|Menkes kinky-hair syndrome [RCV004771537] ChrX:78012999 [GRCh38]
ChrX:77268496 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1464T>C (p.Ser488=) single nucleotide variant Menkes kinky-hair syndrome [RCV003064774] ChrX:77998605 [GRCh38]
ChrX:77254102 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4205T>G (p.Leu1402Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003043968]|not provided [RCV004765631] ChrX:78045551 [GRCh38]
ChrX:77301048 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4288A>T (p.Ser1430Cys) single nucleotide variant Inborn genetic diseases [RCV002702769] ChrX:78046355 [GRCh38]
ChrX:77301852 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_001029891.3(PGAM4):c.229A>T (p.Met77Leu) single nucleotide variant not specified [RCV004174280] ChrX:77969410 [GRCh38]
ChrX:77224907 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1486G>A (p.Gly496Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV002899930] ChrX:77998627 [GRCh38]
ChrX:77254124 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.924A>G (p.Ile308Met) single nucleotide variant Menkes kinky-hair syndrome [RCV002900480] ChrX:77989546 [GRCh38]
ChrX:77245042 [GRCh37]
ChrX:Xq21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000052.7(ATP7A):c.332A>C (p.Lys111Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV002716929]|Menkes kinky-hair syndrome [RCV005429086]|not provided [RCV004721085] ChrX:77988453 [GRCh38]
ChrX:77243949 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance|not provided
NM_000052.7(ATP7A):c.1869+4A>G single nucleotide variant Menkes kinky-hair syndrome [RCV002899167] ChrX:78009267 [GRCh38]
ChrX:77264764 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.657T>G (p.Leu219=) single nucleotide variant Menkes kinky-hair syndrome [RCV003060184] ChrX:77989279 [GRCh38]
ChrX:77244775 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.740T>C (p.Leu247Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV002715908] ChrX:77989362 [GRCh38]
ChrX:77244858 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1707+19G>A single nucleotide variant Menkes kinky-hair syndrome [RCV002716225] ChrX:78003255 [GRCh38]
ChrX:77258752 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4436C>A (p.Thr1479Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV003027971] ChrX:78046503 [GRCh38]
ChrX:77302000 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1419A>G (p.Lys473=) single nucleotide variant Menkes kinky-hair syndrome [RCV003048358] ChrX:77998560 [GRCh38]
ChrX:77254057 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.610+10C>T single nucleotide variant Menkes kinky-hair syndrome [RCV002810091] ChrX:77988741 [GRCh38]
ChrX:77244237 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.833C>G (p.Thr278Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003010295] ChrX:77989455 [GRCh38]
ChrX:77244951 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.52A>C (p.Thr18Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV002810147] ChrX:77971693 [GRCh38]
ChrX:77227190 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.1915A>G (p.Ser639Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV003086424] ChrX:78011221 [GRCh38]
ChrX:77266718 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3465A>G (p.Glu1155=) single nucleotide variant Menkes kinky-hair syndrome [RCV002834813] ChrX:78033775 [GRCh38]
ChrX:77289273 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.352A>G (p.Ile118Val) single nucleotide variant Menkes kinky-hair syndrome [RCV002856258] ChrX:77988473 [GRCh38]
ChrX:77243969 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.377C>T (p.Ala126Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003044219] ChrX:77988498 [GRCh38]
ChrX:77243994 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1803C>A (p.Thr601=) single nucleotide variant Menkes kinky-hair syndrome [RCV002856314] ChrX:78009197 [GRCh38]
ChrX:77264694 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2528A>G (p.Gln843Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003068577] ChrX:78015783 [GRCh38]
ChrX:77271280 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1303A>G (p.Ile435Val) single nucleotide variant Menkes kinky-hair syndrome [RCV002605142] ChrX:77989925 [GRCh38]
ChrX:77245421 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3354T>A (p.Gly1118=) single nucleotide variant Menkes kinky-hair syndrome [RCV002725993] ChrX:78033664 [GRCh38]
ChrX:77289162 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2200C>A (p.Gln734Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV003069993] ChrX:78012906 [GRCh38]
ChrX:77268403 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2781+5C>T single nucleotide variant Menkes kinky-hair syndrome [RCV002726033] ChrX:78020403 [GRCh38]
ChrX:77275900 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.721C>G (p.Gln241Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV002603230] ChrX:77989343 [GRCh38]
ChrX:77244839 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1463C>T (p.Ser488Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV002604382] ChrX:77998604 [GRCh38]
ChrX:77254101 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.235G>A (p.Asp79Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV003092572] ChrX:77988356 [GRCh38]
ChrX:77243852 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003050627]|Menkes kinky-hair syndrome [RCV003312071] ChrX:78045499 [GRCh38]
ChrX:77300996 [GRCh37]
ChrX:Xq21.1		 pathogenic|uncertain significance
NM_000052.7(ATP7A):c.1540G>A (p.Glu514Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV003052303] ChrX:77998681 [GRCh38]
ChrX:77254178 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4227-17C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003069137] ChrX:78046277 [GRCh38]
ChrX:77301774 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3511+9A>C single nucleotide variant Menkes kinky-hair syndrome [RCV003049499] ChrX:78033830 [GRCh38]
ChrX:77289328 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3021C>T (p.Ala1007=) single nucleotide variant Menkes kinky-hair syndrome [RCV003050697] ChrX:78029354 [GRCh38]
ChrX:77284851 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2460A>C (p.Ala820=) single nucleotide variant Menkes kinky-hair syndrome [RCV002655038] ChrX:78014715 [GRCh38]
ChrX:77270212 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3631C>T (p.Arg1211Trp) single nucleotide variant Menkes kinky-hair syndrome [RCV003093670] ChrX:78038955 [GRCh38]
ChrX:77294453 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2782-14A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003072474] ChrX:78020931 [GRCh38]
ChrX:77276428 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2819A>G (p.Tyr940Cys) single nucleotide variant Menkes kinky-hair syndrome [RCV003072475] ChrX:78020982 [GRCh38]
ChrX:77276479 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3112-18A>G single nucleotide variant Menkes kinky-hair syndrome [RCV002606446] ChrX:78031382 [GRCh38]
ChrX:77286880 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1238C>T (p.Ala413Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003093158] ChrX:77989860 [GRCh38]
ChrX:77245356 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4356G>T (p.Leu1452Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV003072784]|not provided [RCV004775290] ChrX:78046423 [GRCh38]
ChrX:77301920 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2112G>C (p.Gln704His) single nucleotide variant Menkes kinky-hair syndrome [RCV002588031] ChrX:78011614 [GRCh38]
ChrX:77267111 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3876G>A (p.Glu1292=) single nucleotide variant Menkes kinky-hair syndrome [RCV002676926] ChrX:78042659 [GRCh38]
ChrX:77298157 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3118G>T (p.Val1040Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV003071466] ChrX:78031406 [GRCh38]
ChrX:77286904 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2734A>G (p.Thr912Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV002611203]|not provided [RCV004719297] ChrX:78020351 [GRCh38]
ChrX:77275848 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2247G>A (p.Leu749=) single nucleotide variant Menkes kinky-hair syndrome [RCV002611676] ChrX:78012953 [GRCh38]
ChrX:77268450 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3360C>T (p.Ser1120=) single nucleotide variant Menkes kinky-hair syndrome [RCV002587939] ChrX:78033670 [GRCh38]
ChrX:77289168 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4226+12A>G single nucleotide variant Menkes kinky-hair syndrome [RCV002612560] ChrX:78045584 [GRCh38]
ChrX:77301081 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.837C>T (p.Ala279=) single nucleotide variant Menkes kinky-hair syndrome [RCV003073396] ChrX:77989459 [GRCh38]
ChrX:77244955 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.125C>T (p.Ser42Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV003073426] ChrX:77988246 [GRCh38]
ChrX:77243742 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.1471_1473delinsATGTAA (p.Tyr491delinsMetTer) indel Menkes kinky-hair syndrome [RCV004785858] ChrX:77998612..77998614 [GRCh38]
ChrX:77254109..77254111 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4202T>A (p.Val1401Glu) single nucleotide variant Inborn genetic diseases [RCV003257449] ChrX:78045548 [GRCh38]
ChrX:77301045 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_001029891.3(PGAM4):c.256C>A (p.Arg86Ser) single nucleotide variant not specified [RCV004271681] ChrX:77969383 [GRCh38]
ChrX:77224880 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1886C>T (p.Ala629Val) single nucleotide variant Inborn genetic diseases [RCV003205729] ChrX:78011192 [GRCh38]
ChrX:77266689 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1496G>A (p.Cys499Tyr) single nucleotide variant Inborn genetic diseases [RCV003208705] ChrX:77998637 [GRCh38]
ChrX:77254134 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_001029891.3(PGAM4):c.169A>G (p.Thr57Ala) single nucleotide variant not specified [RCV004267607] ChrX:77969470 [GRCh38]
ChrX:77224967 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1352T>C (p.Leu451Ser) single nucleotide variant not provided [RCV003143663] ChrX:77998493 [GRCh38]
ChrX:77253990 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3112-3C>T single nucleotide variant not provided [RCV003143662] ChrX:78031397 [GRCh38]
ChrX:77286895 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.641T>C (p.Val214Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV004725658]|not provided [RCV003143660] ChrX:77989263 [GRCh38]
ChrX:77244759 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.611-1G>C single nucleotide variant Menkes kinky-hair syndrome [RCV003226753] ChrX:77989232 [GRCh38]
ChrX:77244728 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.2269G>A (p.Ala757Thr) single nucleotide variant not provided [RCV003323065] ChrX:78012975 [GRCh38]
ChrX:77268472 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2627-501C>T single nucleotide variant not provided [RCV003322086] ChrX:78019743 [GRCh38]
ChrX:77275240 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2019del (p.Met674fs) deletion not provided [RCV003322042] ChrX:78011520 [GRCh38]
ChrX:77267017 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3811A>G (p.Thr1271Ala) single nucleotide variant Inborn genetic diseases [RCV005281402]|Menkes kinky-hair syndrome [RCV003454385]|Menkes kinky-hair syndrome [RCV005216114] ChrX:78042594 [GRCh38]
ChrX:77298092 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1052T>A (p.Val351Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV003792354] ChrX:77989674 [GRCh38]
ChrX:77245170 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1056G>C (p.Glu352Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV003445302] ChrX:77989678 [GRCh38]
ChrX:77245174 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.251T>C (p.Leu84Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV003792065] ChrX:77988372 [GRCh38]
ChrX:77243868 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xq13.2-21.31(chrX:73620711-90395211)x1 copy number loss not provided [RCV003483923] ChrX:73620711..90395211 [GRCh37]
ChrX:Xq13.2-21.31		 pathogenic
GRCh37/hg19 Xq21.1(chrX:76904751-77314965)x3 copy number gain not provided [RCV003485303] ChrX:76904751..77314965 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3 copy number gain not provided [RCV003485304] ChrX:77212972..118576590 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
NM_000052.7(ATP7A):c.4385C>G (p.Ala1462Gly) single nucleotide variant not specified [RCV003479781] ChrX:78046452 [GRCh38]
ChrX:77301949 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.-21-2105G>A single nucleotide variant not provided [RCV003439692] ChrX:77969516 [GRCh38]
ChrX:77225013 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3724A>G (p.Ile1242Val) single nucleotide variant ATP7A-related disorder [RCV003399921]|Menkes kinky-hair syndrome [RCV003778209]|not specified [RCV005419618] ChrX:78040656 [GRCh38]
ChrX:77296154 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.391C>T (p.Pro131Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV003791678] ChrX:77988512 [GRCh38]
ChrX:77244008 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3737T>C (p.Met1246Thr) single nucleotide variant ATP7A-related disorder [RCV003429097]|Menkes kinky-hair syndrome [RCV003778325]|not specified [RCV003994546] ChrX:78040669 [GRCh38]
ChrX:77296167 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1544-872C>G single nucleotide variant Cutis laxa, X-linked [RCV003388229] ChrX:78002201 [GRCh38]
ChrX:77257698 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.806G>A (p.Arg269Lys) single nucleotide variant not provided [RCV003439693] ChrX:77989428 [GRCh38]
ChrX:77244924 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.751G>A (p.Asp251Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV003778476]|not provided [RCV003441611] ChrX:77989373 [GRCh38]
ChrX:77244869 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4250G>C (p.Ser1417Thr) single nucleotide variant ATP7A-related disorder [RCV003416852] ChrX:78046317 [GRCh38]
ChrX:77301814 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3930_3933dup (p.Ala1312fs) duplication ATP7A-related disorder [RCV003400363] ChrX:78042712..78042713 [GRCh38]
ChrX:77298210..77298211 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1770A>G (p.Arg590=) single nucleotide variant Menkes kinky-hair syndrome [RCV003778461]|not provided [RCV003439694] ChrX:78009164 [GRCh38]
ChrX:77264661 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.1154G>A (p.Gly385Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV003783430] ChrX:77989776 [GRCh38]
ChrX:77245272 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4123+12T>A single nucleotide variant Menkes kinky-hair syndrome [RCV003806487] ChrX:78043446 [GRCh38]
ChrX:77298944 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3512-14G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003786775] ChrX:78038822 [GRCh38]
ChrX:77294320 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2305A>G (p.Met769Val) single nucleotide variant ATP7A-related disorder [RCV003919381]|Menkes kinky-hair syndrome [RCV003788296] ChrX:78013011 [GRCh38]
ChrX:77268508 [GRCh37]
ChrX:Xq21.1		 benign|uncertain significance
NM_000052.7(ATP7A):c.1946+16T>G single nucleotide variant Menkes kinky-hair syndrome [RCV003781986] ChrX:78011268 [GRCh38]
ChrX:77266765 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1080C>T (p.Ser360=) single nucleotide variant Menkes kinky-hair syndrome [RCV003785760] ChrX:77989702 [GRCh38]
ChrX:77245198 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3658+17G>T single nucleotide variant Menkes kinky-hair syndrome [RCV003805062] ChrX:78038999 [GRCh38]
ChrX:77294497 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3129T>C (p.Phe1043=) single nucleotide variant Menkes kinky-hair syndrome [RCV003807531] ChrX:78031417 [GRCh38]
ChrX:77286915 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2498+18T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003789779] ChrX:78014771 [GRCh38]
ChrX:77270268 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3111+7C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003792385] ChrX:78029451 [GRCh38]
ChrX:77284948 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2627-19A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003793767] ChrX:78020225 [GRCh38]
ChrX:77275722 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3249C>T (p.Asn1083=) single nucleotide variant Menkes kinky-hair syndrome [RCV003804034] ChrX:78031537 [GRCh38]
ChrX:77287035 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1982G>A (p.Cys661Tyr) single nucleotide variant Menkes kinky-hair syndrome [RCV003807710] ChrX:78011484 [GRCh38]
ChrX:77266981 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2052T>C (p.Asn684=) single nucleotide variant Menkes kinky-hair syndrome [RCV003807713] ChrX:78011554 [GRCh38]
ChrX:77267051 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2654C>A (p.Pro885His) single nucleotide variant Menkes kinky-hair syndrome [RCV003807843] ChrX:78020271 [GRCh38]
ChrX:77275768 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2429C>A (p.Ala810Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV003782217] ChrX:78014684 [GRCh38]
ChrX:77270181 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.964A>G (p.Asn322Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV003782242] ChrX:77989586 [GRCh38]
ChrX:77245082 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.120+14T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003805260] ChrX:77971775 [GRCh38]
ChrX:77227272 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2127G>A (p.Leu709=) single nucleotide variant Menkes kinky-hair syndrome [RCV003806499] ChrX:78011629 [GRCh38]
ChrX:77267126 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2499-18A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003790845] ChrX:78015736 [GRCh38]
ChrX:77271233 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1183A>G (p.Ile395Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003790846] ChrX:77989805 [GRCh38]
ChrX:77245301 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1947-17T>A single nucleotide variant Menkes kinky-hair syndrome [RCV003784802] ChrX:78011432 [GRCh38]
ChrX:77266929 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3489G>A (p.Met1163Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003792682] ChrX:78033799 [GRCh38]
ChrX:77289297 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4264G>T (p.Ala1422Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV003797088] ChrX:78046331 [GRCh38]
ChrX:77301828 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3624A>G (p.Arg1208=) single nucleotide variant Menkes kinky-hair syndrome [RCV003807641] ChrX:78038948 [GRCh38]
ChrX:77294446 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4226+7A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003795195] ChrX:78045579 [GRCh38]
ChrX:77301076 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.147T>C (p.Thr49=) single nucleotide variant Menkes kinky-hair syndrome [RCV003797781] ChrX:77988268 [GRCh38]
ChrX:77243764 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3788C>A (p.Ser1263Tyr) single nucleotide variant Menkes kinky-hair syndrome [RCV003797783] ChrX:78040720 [GRCh38]
ChrX:77296218 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3670G>A (p.Gly1224Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV003791368] ChrX:78040602 [GRCh38]
ChrX:77296100 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3658+19A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003795408] ChrX:78039001 [GRCh38]
ChrX:77294499 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2304A>G (p.Ala768=) single nucleotide variant Menkes kinky-hair syndrome [RCV003782665] ChrX:78013010 [GRCh38]
ChrX:77268507 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2178C>G (p.Phe726Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV003805883] ChrX:78012884 [GRCh38]
ChrX:77268381 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2262C>T (p.Thr754=) single nucleotide variant Menkes kinky-hair syndrome [RCV003805914] ChrX:78012968 [GRCh38]
ChrX:77268465 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2788A>G (p.Ile930Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003782641] ChrX:78020951 [GRCh38]
ChrX:77276448 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2917-16T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003805566] ChrX:78029234 [GRCh38]
ChrX:77284731 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1543+8A>C single nucleotide variant Menkes kinky-hair syndrome [RCV003786324] ChrX:77998692 [GRCh38]
ChrX:77254189 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3111+11C>A single nucleotide variant Menkes kinky-hair syndrome [RCV003797362] ChrX:78029455 [GRCh38]
ChrX:77284952 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4232G>A (p.Arg1411Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV003807576] ChrX:78046299 [GRCh38]
ChrX:77301796 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4227-10A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003797536] ChrX:78046284 [GRCh38]
ChrX:77301781 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1782C>T (p.Tyr594=) single nucleotide variant Menkes kinky-hair syndrome [RCV003807988] ChrX:78009176 [GRCh38]
ChrX:77264673 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3527A>T (p.Gln1176Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV003791812] ChrX:78038851 [GRCh38]
ChrX:77294349 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2406+14G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003783975] ChrX:78013126 [GRCh38]
ChrX:77268623 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1719G>A (p.Met573Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003807185] ChrX:78009113 [GRCh38]
ChrX:77264610 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1337-17C>G single nucleotide variant Menkes kinky-hair syndrome [RCV003787621] ChrX:77998461 [GRCh38]
ChrX:77253958 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.453G>T (p.Gly151=) single nucleotide variant Menkes kinky-hair syndrome [RCV003806135] ChrX:77988574 [GRCh38]
ChrX:77244070 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1870-7T>G single nucleotide variant Menkes kinky-hair syndrome [RCV003807299] ChrX:78011169 [GRCh38]
ChrX:77266666 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.610+13G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003781740] ChrX:77988744 [GRCh38]
ChrX:77244240 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4141G>A (p.Gly1381Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV003789308] ChrX:78045487 [GRCh38]
ChrX:77300984 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3295-11_3295-10del deletion Menkes kinky-hair syndrome [RCV003804636] ChrX:78033593..78033594 [GRCh38]
ChrX:77289091..77289092 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4188A>G (p.Ser1396=) single nucleotide variant Menkes kinky-hair syndrome [RCV003807383] ChrX:78045534 [GRCh38]
ChrX:77301031 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1992A>G (p.Val664=) single nucleotide variant Menkes kinky-hair syndrome [RCV003797403] ChrX:78011494 [GRCh38]
ChrX:77266991 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2346C>T (p.Asp782=) single nucleotide variant Menkes kinky-hair syndrome [RCV003797405] ChrX:78013052 [GRCh38]
ChrX:77268549 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2782-11T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003786541] ChrX:78020934 [GRCh38]
ChrX:77276431 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2650A>G (p.Lys884Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV003793420] ChrX:78020267 [GRCh38]
ChrX:77275764 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3294+14C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003784294] ChrX:78031596 [GRCh38]
ChrX:77287094 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1422G>A (p.Gly474=) single nucleotide variant Menkes kinky-hair syndrome [RCV003805073] ChrX:77998563 [GRCh38]
ChrX:77254060 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.836C>A (p.Ala279Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV003804957] ChrX:77989458 [GRCh38]
ChrX:77244954 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3226A>G (p.Ile1076Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003793616] ChrX:78031514 [GRCh38]
ChrX:77287012 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3435A>G (p.Ala1145=) single nucleotide variant Menkes kinky-hair syndrome [RCV003783326] ChrX:78033745 [GRCh38]
ChrX:77289243 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2112G>T (p.Gln704His) single nucleotide variant Menkes kinky-hair syndrome [RCV003796680] ChrX:78011614 [GRCh38]
ChrX:77267111 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1108G>A (p.Val370Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003788880] ChrX:77989730 [GRCh38]
ChrX:77245226 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4226+20C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003786409] ChrX:78045592 [GRCh38]
ChrX:77301089 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1806C>A (p.Asn602Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV003788915] ChrX:78009200 [GRCh38]
ChrX:77264697 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1708-16G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003783996] ChrX:78009086 [GRCh38]
ChrX:77264583 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.121-12T>G single nucleotide variant Menkes kinky-hair syndrome [RCV003785342] ChrX:77988230 [GRCh38]
ChrX:77243726 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1926T>A (p.Asp642Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV003788209] ChrX:78011232 [GRCh38]
ChrX:77266729 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.789A>G (p.Ser263=) single nucleotide variant Menkes kinky-hair syndrome [RCV003791167] ChrX:77989411 [GRCh38]
ChrX:77244907 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1908G>T (p.Arg636=) single nucleotide variant Menkes kinky-hair syndrome [RCV003782720] ChrX:78011214 [GRCh38]
ChrX:77266711 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.598C>G (p.Gln200Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV003795728] ChrX:77988719 [GRCh38]
ChrX:77244215 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1368G>T (p.Gln456His) single nucleotide variant Menkes kinky-hair syndrome [RCV003804645] ChrX:77998509 [GRCh38]
ChrX:77254006 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.4219C>G (p.Leu1407Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003804660] ChrX:78045565 [GRCh38]
ChrX:77301062 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4124-16C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003789162] ChrX:78045454 [GRCh38]
ChrX:77300951 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.610+19A>C single nucleotide variant Menkes kinky-hair syndrome [RCV003791445] ChrX:77988750 [GRCh38]
ChrX:77244246 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1606G>C (p.Val536Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV003792384] ChrX:78003135 [GRCh38]
ChrX:77258632 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.210C>T (p.Gly70=) single nucleotide variant Menkes kinky-hair syndrome [RCV003793207] ChrX:77988331 [GRCh38]
ChrX:77243827 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1947-15T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003804714] ChrX:78011434 [GRCh38]
ChrX:77266931 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2015T>C (p.Met672Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003794521] ChrX:78011517 [GRCh38]
ChrX:77267014 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3602A>T (p.Asp1201Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003795221] ChrX:78038926 [GRCh38]
ChrX:77294424 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.14T>C (p.Met5Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003780518] ChrX:77971655 [GRCh38]
ChrX:77227152 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.523A>G (p.Met175Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003791481] ChrX:77988644 [GRCh38]
ChrX:77244140 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.801G>A (p.Gln267=) single nucleotide variant Menkes kinky-hair syndrome [RCV003793230] ChrX:77989423 [GRCh38]
ChrX:77244919 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2526A>G (p.Val842=) single nucleotide variant Menkes kinky-hair syndrome [RCV003784271] ChrX:78015781 [GRCh38]
ChrX:77271278 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3111+8A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003795264] ChrX:78029452 [GRCh38]
ChrX:77284949 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3027A>G (p.Pro1009=) single nucleotide variant Menkes kinky-hair syndrome [RCV003793999] ChrX:78029360 [GRCh38]
ChrX:77284857 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1348C>T (p.Pro450Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV003805520] ChrX:77998489 [GRCh38]
ChrX:77253986 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4289G>A (p.Ser1430Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV003785595] ChrX:78046356 [GRCh38]
ChrX:77301853 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4238C>T (p.Pro1413Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV003787098] ChrX:78046305 [GRCh38]
ChrX:77301802 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.552A>T (p.Ser184=) single nucleotide variant Menkes kinky-hair syndrome [RCV003787864] ChrX:77988673 [GRCh38]
ChrX:77244169 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2349A>G (p.Thr783=) single nucleotide variant Menkes kinky-hair syndrome [RCV003790002] ChrX:78013055 [GRCh38]
ChrX:77268552 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3518_3526delTTAATGCTC (p.Leu1173_Ala1175del) deletion Menkes kinky-hair syndrome [RCV003790540] ChrX:78038836..78038844 [GRCh38]
ChrX:77294334..77294342 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2765A>G (p.Glu922Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV003784342]|not provided [RCV004798060] ChrX:78020382 [GRCh38]
ChrX:77275879 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3333C>A (p.Phe1111Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV003806388] ChrX:78033643 [GRCh38]
ChrX:77289141 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2626+13A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003788695] ChrX:78015894 [GRCh38]
ChrX:77271391 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.220G>C (p.Val74Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV003781255] ChrX:77988341 [GRCh38]
ChrX:77243837 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.1032A>G (p.Arg344=) single nucleotide variant Menkes kinky-hair syndrome [RCV003795414] ChrX:77989654 [GRCh38]
ChrX:77245150 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3625A>G (p.Lys1209Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV003806165] ChrX:78038949 [GRCh38]
ChrX:77294447 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3951T>A (p.Ala1317=) single nucleotide variant Menkes kinky-hair syndrome [RCV003788700] ChrX:78042734 [GRCh38]
ChrX:77298232 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2170C>G (p.Gln724Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV003790658] ChrX:78011672 [GRCh38]
ChrX:77267169 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3072A>T (p.Ile1024=) single nucleotide variant Menkes kinky-hair syndrome [RCV003795982] ChrX:78029405 [GRCh38]
ChrX:77284902 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.311A>C (p.Gln104Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV003785898] ChrX:77988432 [GRCh38]
ChrX:77243928 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2059A>T (p.Met687Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV003786299] ChrX:78011561 [GRCh38]
ChrX:77267058 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1400C>T (p.Thr467Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003787222] ChrX:77998541 [GRCh38]
ChrX:77254038 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3802-12T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003780762] ChrX:78042573 [GRCh38]
ChrX:77298071 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2917-6C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003792739] ChrX:78029244 [GRCh38]
ChrX:77284741 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1870-14A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003788059] ChrX:78011162 [GRCh38]
ChrX:77266659 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3873G>A (p.Glu1291=) single nucleotide variant Menkes kinky-hair syndrome [RCV003790139] ChrX:78042656 [GRCh38]
ChrX:77298154 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2875A>G (p.Ile959Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003781641] ChrX:78021038 [GRCh38]
ChrX:77276535 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1337-16T>A single nucleotide variant Menkes kinky-hair syndrome [RCV003806246]|not provided [RCV005230577] ChrX:77998462 [GRCh38]
ChrX:77253959 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2488A>G (p.Ile830Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003790202] ChrX:78014743 [GRCh38]
ChrX:77270240 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.610+18G>T single nucleotide variant Menkes kinky-hair syndrome [RCV003791987] ChrX:77988749 [GRCh38]
ChrX:77244245 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2093C>G (p.Ser698Cys) single nucleotide variant Menkes kinky-hair syndrome [RCV003782564] ChrX:78011595 [GRCh38]
ChrX:77267092 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3111+10T>G single nucleotide variant Menkes kinky-hair syndrome [RCV003783283] ChrX:78029454 [GRCh38]
ChrX:77284951 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3486C>T (p.Ser1162=) single nucleotide variant Menkes kinky-hair syndrome [RCV003787644] ChrX:78033796 [GRCh38]
ChrX:77289294 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.444A>G (p.Leu148=) single nucleotide variant Menkes kinky-hair syndrome [RCV003784266] ChrX:77988565 [GRCh38]
ChrX:77244061 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2761G>A (p.Glu921Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV003795971] ChrX:78020378 [GRCh38]
ChrX:77275875 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2747T>C (p.Ile916Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003796741] ChrX:78020364 [GRCh38]
ChrX:77275861 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.537G>A (p.Gly179=) single nucleotide variant Menkes kinky-hair syndrome [RCV003794114] ChrX:77988658 [GRCh38]
ChrX:77244154 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2498+16C>G single nucleotide variant Menkes kinky-hair syndrome [RCV003795953] ChrX:78014769 [GRCh38]
ChrX:77270266 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.597T>C (p.Val199=) single nucleotide variant Menkes kinky-hair syndrome [RCV003786460] ChrX:77988718 [GRCh38]
ChrX:77244214 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1611A>G (p.Ile537Met) single nucleotide variant Menkes kinky-hair syndrome [RCV003787043] ChrX:78003140 [GRCh38]
ChrX:77258637 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2352C>T (p.Pro784=) single nucleotide variant Menkes kinky-hair syndrome [RCV003787092] ChrX:78013058 [GRCh38]
ChrX:77268555 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3042G>A (p.Val1014=) single nucleotide variant Menkes kinky-hair syndrome [RCV003786478] ChrX:78029375 [GRCh38]
ChrX:77284872 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3954T>C (p.Ile1318=) single nucleotide variant Menkes kinky-hair syndrome [RCV003792912] ChrX:78042737 [GRCh38]
ChrX:77298235 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.165A>C (p.Lys55Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV003792951] ChrX:77988286 [GRCh38]
ChrX:77243782 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2453C>T (p.Thr818Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003792969] ChrX:78014708 [GRCh38]
ChrX:77270205 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4480G>A (p.Glu1494Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV003805379] ChrX:78046547 [GRCh38]
ChrX:77302044 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1946+12G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003785302] ChrX:78011264 [GRCh38]
ChrX:77266761 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.120+15G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003806264] ChrX:77971776 [GRCh38]
ChrX:77227273 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1760C>T (p.Thr587Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003796801] ChrX:78009154 [GRCh38]
ChrX:77264651 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2433G>A (p.Lys811=) single nucleotide variant Menkes kinky-hair syndrome [RCV003788797]|not specified [RCV005240927] ChrX:78014688 [GRCh38]
ChrX:77270185 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.611-16del deletion Menkes kinky-hair syndrome [RCV003789575] ChrX:77989215 [GRCh38]
ChrX:77244711 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4159T>G (p.Trp1387Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV003806641] ChrX:78045505 [GRCh38]
ChrX:77301002 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.19G>A (p.Val7Met) single nucleotide variant Menkes kinky-hair syndrome [RCV003793142] ChrX:77971660 [GRCh38]
ChrX:77227157 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3801+13G>T single nucleotide variant Menkes kinky-hair syndrome [RCV003788094] ChrX:78040746 [GRCh38]
ChrX:77296244 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2470A>T (p.Thr824Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV003790739]|not provided [RCV004812504] ChrX:78014725 [GRCh38]
ChrX:77270222 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2492T>A (p.Leu831His) single nucleotide variant Menkes kinky-hair syndrome [RCV003784908]|not specified [RCV005419700] ChrX:78014747 [GRCh38]
ChrX:77270244 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.4074T>C (p.Asn1358=) single nucleotide variant Menkes kinky-hair syndrome [RCV003805451] ChrX:78043385 [GRCh38]
ChrX:77298883 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1683A>C (p.Glu561Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV003796499] ChrX:78003212 [GRCh38]
ChrX:77258709 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2407G>A (p.Gly803Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV003797099] ChrX:78014662 [GRCh38]
ChrX:77270159 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4226+6T>G single nucleotide variant Menkes kinky-hair syndrome [RCV003807312] ChrX:78045578 [GRCh38]
ChrX:77301075 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1350G>A (p.Pro450=) single nucleotide variant Menkes kinky-hair syndrome [RCV003789662] ChrX:77998491 [GRCh38]
ChrX:77253988 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.379G>A (p.Val127Met) single nucleotide variant Menkes kinky-hair syndrome [RCV003784459] ChrX:77988500 [GRCh38]
ChrX:77243996 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.385A>G (p.Ile129Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003780324] ChrX:77988506 [GRCh38]
ChrX:77244002 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1802C>G (p.Thr601Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV003804535] ChrX:78009196 [GRCh38]
ChrX:77264693 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2406+19A>T single nucleotide variant Menkes kinky-hair syndrome [RCV003796561] ChrX:78013131 [GRCh38]
ChrX:77268628 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2499-11C>A single nucleotide variant Menkes kinky-hair syndrome [RCV003806762] ChrX:78015743 [GRCh38]
ChrX:77271240 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4227-18del deletion Menkes kinky-hair syndrome [RCV003787453] ChrX:78046276 [GRCh38]
ChrX:77301773 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4227-16T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003787454] ChrX:78046278 [GRCh38]
ChrX:77301775 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3294+15dup duplication Menkes kinky-hair syndrome [RCV003785471] ChrX:78031596..78031597 [GRCh38]
ChrX:77287094..77287095 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2013G>T (p.Met671Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003795783] ChrX:78011515 [GRCh38]
ChrX:77267012 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4420C>T (p.Leu1474=) single nucleotide variant Menkes kinky-hair syndrome [RCV003785483] ChrX:78046487 [GRCh38]
ChrX:77301984 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1544-16T>G single nucleotide variant Menkes kinky-hair syndrome [RCV003806397] ChrX:78003057 [GRCh38]
ChrX:77258554 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1257T>G (p.Val419=) single nucleotide variant Menkes kinky-hair syndrome [RCV003797154] ChrX:77989879 [GRCh38]
ChrX:77245375 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1610T>C (p.Ile537Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003781795] ChrX:78003139 [GRCh38]
ChrX:77258636 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4470A>T (p.Gly1490=) single nucleotide variant Menkes kinky-hair syndrome [RCV003780933] ChrX:78046537 [GRCh38]
ChrX:77302034 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3313T>C (p.Leu1105=) single nucleotide variant Menkes kinky-hair syndrome [RCV003794878] ChrX:78033623 [GRCh38]
ChrX:77289121 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.702T>G (p.Phe234Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV003806436] ChrX:77989324 [GRCh38]
ChrX:77244820 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1908G>A (p.Arg636=) single nucleotide variant Menkes kinky-hair syndrome [RCV003781964] ChrX:78011214 [GRCh38]
ChrX:77266711 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3689A>G (p.Asp1230Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV003788386] ChrX:78040621 [GRCh38]
ChrX:77296119 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1735G>C (p.Val579Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV003789790] ChrX:78009129 [GRCh38]
ChrX:77264626 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.121-14T>G single nucleotide variant Menkes kinky-hair syndrome [RCV003784577] ChrX:77988228 [GRCh38]
ChrX:77243724 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2626+17G>C single nucleotide variant Menkes kinky-hair syndrome [RCV003805615] ChrX:78015898 [GRCh38]
ChrX:77271395 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4124-13A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003806459] ChrX:78045457 [GRCh38]
ChrX:77300954 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3212A>G (p.His1071Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003782014] ChrX:78031500 [GRCh38]
ChrX:77286998 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2154A>G (p.Leu718=) single nucleotide variant Menkes kinky-hair syndrome [RCV003789853] ChrX:78011656 [GRCh38]
ChrX:77267153 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3592G>T (p.Asp1198Tyr) single nucleotide variant Menkes kinky-hair syndrome [RCV003807167] ChrX:78038916 [GRCh38]
ChrX:77294414 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1004T>C (p.Ile335Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003792364] ChrX:77989626 [GRCh38]
ChrX:77245122 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2230G>A (p.Ala744Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003804079] ChrX:78012936 [GRCh38]
ChrX:77268433 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4005+16T>A single nucleotide variant Menkes kinky-hair syndrome [RCV003785589] ChrX:78042804 [GRCh38]
ChrX:77298302 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.490A>T (p.Ser164Cys) single nucleotide variant Menkes kinky-hair syndrome [RCV003806497] ChrX:77988611 [GRCh38]
ChrX:77244107 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1707+12T>G single nucleotide variant Menkes kinky-hair syndrome [RCV003796961] ChrX:78003248 [GRCh38]
ChrX:77258745 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2456A>G (p.Glu819Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV003807184] ChrX:78014711 [GRCh38]
ChrX:77270208 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2172+13T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003792441] ChrX:78011687 [GRCh38]
ChrX:77267184 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3514G>A (p.Ala1172Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003782179] ChrX:78038838 [GRCh38]
ChrX:77294336 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.346A>G (p.Ile116Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003789195] ChrX:77988467 [GRCh38]
ChrX:77243963 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.2454A>G (p.Thr818=) single nucleotide variant Menkes kinky-hair syndrome [RCV003805242] ChrX:78014709 [GRCh38]
ChrX:77270206 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2782-4C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003806131] ChrX:78020941 [GRCh38]
ChrX:77276438 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1767C>T (p.His589=) single nucleotide variant Menkes kinky-hair syndrome [RCV003793164] ChrX:78009161 [GRCh38]
ChrX:77264658 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3302A>G (p.Asp1101Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV003804453] ChrX:78033612 [GRCh38]
ChrX:77289110 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3184C>G (p.Leu1062Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003781758] ChrX:78031472 [GRCh38]
ChrX:77286970 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4227-12G>C single nucleotide variant Menkes kinky-hair syndrome [RCV003786839] ChrX:78046282 [GRCh38]
ChrX:77301779 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2030A>G (p.His677Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003789041] ChrX:78011532 [GRCh38]
ChrX:77267029 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3358A>C (p.Ser1120Arg) single nucleotide variant Inborn genetic diseases [RCV004968458]|Menkes kinky-hair syndrome [RCV003786914] ChrX:78033668 [GRCh38]
ChrX:77289166 [GRCh37]
ChrX:Xq21.1		 benign|uncertain significance
NM_000052.7(ATP7A):c.4123+17T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003781832] ChrX:78043451 [GRCh38]
ChrX:77298949 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3753T>C (p.Val1251=) single nucleotide variant Menkes kinky-hair syndrome [RCV003787041] ChrX:78040685 [GRCh38]
ChrX:77296183 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2831T>C (p.Phe944Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV003790141] ChrX:78020994 [GRCh38]
ChrX:77276491 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1708-19A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003779449] ChrX:78009083 [GRCh38]
ChrX:77264580 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2704A>G (p.Ile902Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003782109] ChrX:78020321 [GRCh38]
ChrX:77275818 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4440T>C (p.Ser1480=) single nucleotide variant Menkes kinky-hair syndrome [RCV003781978] ChrX:78046507 [GRCh38]
ChrX:77302004 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.3501C>T (p.Ala1167=) single nucleotide variant Menkes kinky-hair syndrome [RCV003787528] ChrX:78033811 [GRCh38]
ChrX:77289309 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3984A>C (p.Ala1328=) single nucleotide variant Menkes kinky-hair syndrome [RCV003790193] ChrX:78042767 [GRCh38]
ChrX:77298265 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2406+16G>T single nucleotide variant Menkes kinky-hair syndrome [RCV003792861] ChrX:78013128 [GRCh38]
ChrX:77268625 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2406+12A>C single nucleotide variant Menkes kinky-hair syndrome [RCV003791454] ChrX:78013124 [GRCh38]
ChrX:77268621 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2917-19T>G single nucleotide variant Menkes kinky-hair syndrome [RCV003787374] ChrX:78029231 [GRCh38]
ChrX:77284728 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.868T>C (p.Ser290Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV003804385] ChrX:77989490 [GRCh38]
ChrX:77244986 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2782-13T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003782658] ChrX:78020932 [GRCh38]
ChrX:77276429 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3512-7C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003791589] ChrX:78038829 [GRCh38]
ChrX:77294327 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3512-16C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003780940] ChrX:78038820 [GRCh38]
ChrX:77294318 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2263A>G (p.Thr755Ala) single nucleotide variant not provided [RCV003490502] ChrX:78012969 [GRCh38]
ChrX:77268466 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1220C>T (p.Ser407Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV003781439] ChrX:77989842 [GRCh38]
ChrX:77245338 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.479G>C (p.Cys160Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV003787603] ChrX:77988600 [GRCh38]
ChrX:77244096 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3102G>A (p.Met1034Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003787707] ChrX:78029435 [GRCh38]
ChrX:77284932 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2801C>G (p.Ala934Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV003789467] ChrX:78020964 [GRCh38]
ChrX:77276461 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3707C>G (p.Ala1236Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV003793428] ChrX:78040639 [GRCh38]
ChrX:77296137 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2781+17G>C single nucleotide variant Menkes kinky-hair syndrome [RCV003789542] ChrX:78020415 [GRCh38]
ChrX:77275912 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1543+18C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003789539] ChrX:77998702 [GRCh38]
ChrX:77254199 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2053C>T (p.Gln685Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV003782762] ChrX:78011555 [GRCh38]
ChrX:77267052 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3659-9C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003804183] ChrX:78040582 [GRCh38]
ChrX:77296080 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2933T>A (p.Ile978Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV003786640] ChrX:78029266 [GRCh38]
ChrX:77284763 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.120+20C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003789664] ChrX:77971781 [GRCh38]
ChrX:77227278 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3286T>G (p.Cys1096Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV003782346] ChrX:78031574 [GRCh38]
ChrX:77287072 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3367G>A (p.Val1123Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003782348] ChrX:78033677 [GRCh38]
ChrX:77289175 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2404A>G (p.Lys802Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV003793099] ChrX:78013110 [GRCh38]
ChrX:77268607 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1523G>A (p.Arg508Gln) single nucleotide variant Menkes kinky-hair syndrome [RCV003781624] ChrX:77998664 [GRCh38]
ChrX:77254161 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4240A>C (p.Thr1414Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV003788886] ChrX:78046307 [GRCh38]
ChrX:77301804 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.1890T>C (p.Ser630=) single nucleotide variant Menkes kinky-hair syndrome [RCV003790747] ChrX:78011196 [GRCh38]
ChrX:77266693 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.3294+16C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003799790] ChrX:78031598 [GRCh38]
ChrX:77287096 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1670A>C (p.Glu557Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV003800920]|not provided [RCV004784186] ChrX:78003199 [GRCh38]
ChrX:77258696 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.824A>T (p.Asn275Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003798840] ChrX:77989446 [GRCh38]
ChrX:77244942 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.798A>G (p.Ser266=) single nucleotide variant Menkes kinky-hair syndrome [RCV003809123] ChrX:77989420 [GRCh38]
ChrX:77244916 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1008G>A (p.Glu336=) single nucleotide variant Menkes kinky-hair syndrome [RCV003812706] ChrX:77989630 [GRCh38]
ChrX:77245126 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2415A>C (p.Thr805=) single nucleotide variant Menkes kinky-hair syndrome [RCV003799949] ChrX:78014670 [GRCh38]
ChrX:77270167 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3271G>A (p.Ala1091Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003810176] ChrX:78031559 [GRCh38]
ChrX:77287057 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.52A>G (p.Thr18Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV003799167] ChrX:77971693 [GRCh38]
ChrX:77227190 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3582C>T (p.Val1194=) single nucleotide variant Menkes kinky-hair syndrome [RCV003801259] ChrX:78038906 [GRCh38]
ChrX:77294404 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3066T>A (p.Asn1022Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV003808175] ChrX:78029399 [GRCh38]
ChrX:77284896 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1654G>A (p.Gly552Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003810384] ChrX:78003183 [GRCh38]
ChrX:77258680 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2662A>C (p.Thr888Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV003809379] ChrX:78020279 [GRCh38]
ChrX:77275776 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1147A>G (p.Ile383Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003810411] ChrX:77989769 [GRCh38]
ChrX:77245265 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4124-17C>A single nucleotide variant Menkes kinky-hair syndrome [RCV003801402] ChrX:78045453 [GRCh38]
ChrX:77300950 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.978C>T (p.Val326=) single nucleotide variant Menkes kinky-hair syndrome [RCV003798156] ChrX:77989600 [GRCh38]
ChrX:77245096 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.843C>T (p.Phe281=) single nucleotide variant Menkes kinky-hair syndrome [RCV003799245] ChrX:77989465 [GRCh38]
ChrX:77244961 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.156T>C (p.Tyr52=) single nucleotide variant Menkes kinky-hair syndrome [RCV003810492] ChrX:77988277 [GRCh38]
ChrX:77243773 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.297A>C (p.Pro99=) single nucleotide variant Menkes kinky-hair syndrome [RCV003798233] ChrX:77988418 [GRCh38]
ChrX:77243914 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.690A>C (p.Glu230Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV003808426] ChrX:77989312 [GRCh38]
ChrX:77244808 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1869+3A>T single nucleotide variant Menkes kinky-hair syndrome [RCV005209728] ChrX:78009266 [GRCh38]
ChrX:77264763 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.756A>G (p.Val252=) single nucleotide variant Menkes kinky-hair syndrome [RCV003809614] ChrX:77989378 [GRCh38]
ChrX:77244874 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.357C>T (p.Tyr119=) single nucleotide variant Menkes kinky-hair syndrome [RCV003809714] ChrX:77988478 [GRCh38]
ChrX:77243974 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1946+15G>C single nucleotide variant Menkes kinky-hair syndrome [RCV003812991] ChrX:78011267 [GRCh38]
ChrX:77266764 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4006-10C>G single nucleotide variant Menkes kinky-hair syndrome [RCV003812286] ChrX:78043307 [GRCh38]
ChrX:77298805 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4263del (p.Ala1422fs) deletion Menkes kinky-hair syndrome [RCV003812396] ChrX:78046330 [GRCh38]
ChrX:77301827 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3537A>G (p.Lys1179=) single nucleotide variant Menkes kinky-hair syndrome [RCV003813038] ChrX:78038861 [GRCh38]
ChrX:77294359 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1905T>A (p.Asp635Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV003813039] ChrX:78011211 [GRCh38]
ChrX:77266708 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3345A>G (p.Pro1115=) single nucleotide variant Menkes kinky-hair syndrome [RCV003813150] ChrX:78033655 [GRCh38]
ChrX:77289153 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4056C>T (p.Val1352=) single nucleotide variant Menkes kinky-hair syndrome [RCV003799686] ChrX:78043367 [GRCh38]
ChrX:77298865 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4015C>T (p.Leu1339=) single nucleotide variant Menkes kinky-hair syndrome [RCV003812556] ChrX:78043326 [GRCh38]
ChrX:77298824 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2986C>T (p.Leu996=) single nucleotide variant Menkes kinky-hair syndrome [RCV003808946] ChrX:78029319 [GRCh38]
ChrX:77284816 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1904A>C (p.Asp635Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV003799437] ChrX:78011210 [GRCh38]
ChrX:77266707 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2166T>A (p.Pro722=) single nucleotide variant Menkes kinky-hair syndrome [RCV003810122] ChrX:78011668 [GRCh38]
ChrX:77267165 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1894G>A (p.Val632Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003808620] ChrX:78011200 [GRCh38]
ChrX:77266697 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1947-19T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003808096] ChrX:78011430 [GRCh38]
ChrX:77266927 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.561C>T (p.Ser187=) single nucleotide variant Menkes kinky-hair syndrome [RCV003801139] ChrX:77988682 [GRCh38]
ChrX:77244178 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.339G>A (p.Val113=) single nucleotide variant Menkes kinky-hair syndrome [RCV003818139] ChrX:77988460 [GRCh38]
ChrX:77243956 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4124-3T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003808125] ChrX:78045467 [GRCh38]
ChrX:77300964 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2627-8C>G single nucleotide variant Menkes kinky-hair syndrome [RCV003800643] ChrX:78020236 [GRCh38]
ChrX:77275733 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3879G>A (p.Gly1293=) single nucleotide variant Menkes kinky-hair syndrome [RCV003798543] ChrX:78042662 [GRCh38]
ChrX:77298160 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3888A>G (p.Val1296=) single nucleotide variant Menkes kinky-hair syndrome [RCV003798544] ChrX:78042671 [GRCh38]
ChrX:77298169 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1062C>A (p.Thr354=) single nucleotide variant Menkes kinky-hair syndrome [RCV003799146] ChrX:77989684 [GRCh38]
ChrX:77245180 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2173-15A>T single nucleotide variant Menkes kinky-hair syndrome [RCV003801276] ChrX:78012864 [GRCh38]
ChrX:77268361 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1870-18T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003798045] ChrX:78011158 [GRCh38]
ChrX:77266655 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2916+19C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003799182] ChrX:78021098 [GRCh38]
ChrX:77276595 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2371A>G (p.Ile791Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003801315] ChrX:78013077 [GRCh38]
ChrX:77268574 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2842G>T (p.Val948Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV003812542] ChrX:78021005 [GRCh38]
ChrX:77276502 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3434C>A (p.Ala1145Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV003801923] ChrX:78033744 [GRCh38]
ChrX:77289242 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.774A>G (p.Thr258=) single nucleotide variant Menkes kinky-hair syndrome [RCV003810457] ChrX:77989396 [GRCh38]
ChrX:77244892 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.717A>C (p.Lys239Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV003818082] ChrX:77989339 [GRCh38]
ChrX:77244835 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1200A>G (p.Ser400=) single nucleotide variant Menkes kinky-hair syndrome [RCV003812922] ChrX:77989822 [GRCh38]
ChrX:77245318 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2559A>C (p.Gly853=) single nucleotide variant Menkes kinky-hair syndrome [RCV003812944] ChrX:78015814 [GRCh38]
ChrX:77271311 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2491C>T (p.Leu831Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV003813005] ChrX:78014746 [GRCh38]
ChrX:77270243 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1543+15A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003798211] ChrX:77998699 [GRCh38]
ChrX:77254196 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1684G>A (p.Gly562Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003808429] ChrX:78003213 [GRCh38]
ChrX:77258710 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.754G>A (p.Val252Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003799336] ChrX:77989376 [GRCh38]
ChrX:77244872 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1681G>A (p.Glu561Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV003801962] ChrX:78003210 [GRCh38]
ChrX:77258707 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4226+18C>A single nucleotide variant Menkes kinky-hair syndrome [RCV003808438] ChrX:78045590 [GRCh38]
ChrX:77301087 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1364C>T (p.Ala455Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003799355] ChrX:77998505 [GRCh38]
ChrX:77254002 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1336+10A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003800403] ChrX:77989968 [GRCh38]
ChrX:77245464 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2193C>T (p.Phe731=) single nucleotide variant Menkes kinky-hair syndrome [RCV003813471] ChrX:78012899 [GRCh38]
ChrX:77268396 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.164A>T (p.Lys55Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003810630] ChrX:77988285 [GRCh38]
ChrX:77243781 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.611-20T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003810327] ChrX:77989213 [GRCh38]
ChrX:77244709 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4055T>A (p.Val1352Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV003801595] ChrX:78043366 [GRCh38]
ChrX:77298864 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2101C>T (p.Leu701=) single nucleotide variant Menkes kinky-hair syndrome [RCV003815248] ChrX:78011603 [GRCh38]
ChrX:77267100 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3423T>A (p.Asn1141Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV003815272]|not provided [RCV004767480] ChrX:78033733 [GRCh38]
ChrX:77289231 [GRCh37]
ChrX:Xq21.1		 benign|uncertain significance
NM_000052.7(ATP7A):c.761G>A (p.Arg254His) single nucleotide variant Menkes kinky-hair syndrome [RCV003812415] ChrX:77989383 [GRCh38]
ChrX:77244879 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.3960A>G (p.Thr1320=) single nucleotide variant Menkes kinky-hair syndrome [RCV003798545] ChrX:78042743 [GRCh38]
ChrX:77298241 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1924G>A (p.Asp642Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV003812888] ChrX:78011230 [GRCh38]
ChrX:77266727 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1947-7A>C single nucleotide variant Menkes kinky-hair syndrome [RCV003815445] ChrX:78011442 [GRCh38]
ChrX:77266939 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4006-7T>A single nucleotide variant Menkes kinky-hair syndrome [RCV003813232] ChrX:78043310 [GRCh38]
ChrX:77298808 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4005+13G>T single nucleotide variant Menkes kinky-hair syndrome [RCV003808962] ChrX:78042801 [GRCh38]
ChrX:77298299 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3894G>T (p.Met1298Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003809026] ChrX:78042677 [GRCh38]
ChrX:77298175 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1707+17G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003810084] ChrX:78003253 [GRCh38]
ChrX:77258750 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.237C>T (p.Asp79=) single nucleotide variant Menkes kinky-hair syndrome [RCV003801540] ChrX:77988358 [GRCh38]
ChrX:77243854 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2438T>C (p.Ile813Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003799897]|not provided [RCV004767469] ChrX:78014693 [GRCh38]
ChrX:77270190 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2626+18A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003808102] ChrX:78015899 [GRCh38]
ChrX:77271396 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1336+9C>A single nucleotide variant Menkes kinky-hair syndrome [RCV003808113] ChrX:77989967 [GRCh38]
ChrX:77245463 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3714G>A (p.Leu1238=) single nucleotide variant Menkes kinky-hair syndrome [RCV003817704] ChrX:78040646 [GRCh38]
ChrX:77296144 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.69T>G (p.Val23=) single nucleotide variant Menkes kinky-hair syndrome [RCV003817778] ChrX:77971710 [GRCh38]
ChrX:77227207 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2849T>C (p.Ile950Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003798811] ChrX:78021012 [GRCh38]
ChrX:77276509 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2917-13C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003798834] ChrX:78029237 [GRCh38]
ChrX:77284734 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3295-16T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003799950] ChrX:78033589 [GRCh38]
ChrX:77289087 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2406+14G>T single nucleotide variant Menkes kinky-hair syndrome [RCV003797854] ChrX:78013126 [GRCh38]
ChrX:77268623 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.800A>G (p.Gln267Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003809284] ChrX:77989422 [GRCh38]
ChrX:77244918 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2499-20T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003801245] ChrX:78015734 [GRCh38]
ChrX:77271231 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3801+17T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003812307] ChrX:78040750 [GRCh38]
ChrX:77296248 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2782-14del deletion Menkes kinky-hair syndrome [RCV003798101] ChrX:78020931 [GRCh38]
ChrX:77276428 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1946+12G>C single nucleotide variant Menkes kinky-hair syndrome [RCV003812482] ChrX:78011264 [GRCh38]
ChrX:77266761 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.360T>G (p.Pro120=) single nucleotide variant Menkes kinky-hair syndrome [RCV003800343] ChrX:77988481 [GRCh38]
ChrX:77243977 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.143C>G (p.Ala48Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV003800347] ChrX:77988264 [GRCh38]
ChrX:77243760 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3117G>A (p.Lys1039=) single nucleotide variant Menkes kinky-hair syndrome [RCV003800383] ChrX:78031405 [GRCh38]
ChrX:77286903 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.40G>T (p.Val14Phe) single nucleotide variant Inborn genetic diseases [RCV004968463]|Menkes kinky-hair syndrome [RCV003798328] ChrX:77971681 [GRCh38]
ChrX:77227178 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3525T>C (p.Ala1175=) single nucleotide variant Menkes kinky-hair syndrome [RCV003798959] ChrX:78038849 [GRCh38]
ChrX:77294347 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2574G>A (p.Val858=) single nucleotide variant Menkes kinky-hair syndrome [RCV003810131] ChrX:78015829 [GRCh38]
ChrX:77271326 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2781+14C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003809661] ChrX:78020412 [GRCh38]
ChrX:77275909 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.182C>T (p.Thr61Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV003815298] ChrX:77988303 [GRCh38]
ChrX:77243799 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.105T>C (p.Gly35=) single nucleotide variant Menkes kinky-hair syndrome [RCV003800682] ChrX:77971746 [GRCh38]
ChrX:77227243 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4439G>A (p.Ser1480Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV003800683] ChrX:78046506 [GRCh38]
ChrX:77302003 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2407-19T>A single nucleotide variant Menkes kinky-hair syndrome [RCV003798041] ChrX:78014643 [GRCh38]
ChrX:77270140 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4006-4T>C single nucleotide variant Menkes kinky-hair syndrome [RCV003809370]|not provided [RCV004775507] ChrX:78043313 [GRCh38]
ChrX:77298811 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2874A>C (p.Val958=) single nucleotide variant Menkes kinky-hair syndrome [RCV003813608] ChrX:78021037 [GRCh38]
ChrX:77276534 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2406+16G>A single nucleotide variant Menkes kinky-hair syndrome [RCV003809415] ChrX:78013128 [GRCh38]
ChrX:77268625 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.117T>A (p.Ile39=) single nucleotide variant Menkes kinky-hair syndrome [RCV003809435] ChrX:77971758 [GRCh38]
ChrX:77227255 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2406+20C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003815403]|not specified [RCV005419710] ChrX:78013132 [GRCh38]
ChrX:77268629 [GRCh37]
ChrX:Xq21.1		 benign|likely benign
NM_000052.7(ATP7A):c.127C>T (p.Leu43=) single nucleotide variant Menkes kinky-hair syndrome [RCV003799741] ChrX:77988248 [GRCh38]
ChrX:77243744 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2401G>A (p.Ala801Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003803560] ChrX:78013107 [GRCh38]
ChrX:77268604 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1017A>T (p.Ser339=) single nucleotide variant Menkes kinky-hair syndrome [RCV003803926] ChrX:77989639 [GRCh38]
ChrX:77245135 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1184T>C (p.Ile395Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV003803505] ChrX:77989806 [GRCh38]
ChrX:77245302 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1473C>T (p.Tyr491=) single nucleotide variant Menkes kinky-hair syndrome [RCV003803535] ChrX:77998614 [GRCh38]
ChrX:77254111 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1190G>C (p.Gly397Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV003802401] ChrX:77989812 [GRCh38]
ChrX:77245308 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2773_2781+4del deletion Menkes kinky-hair syndrome [RCV003802891] ChrX:78020388..78020400 [GRCh38]
ChrX:77275885..77275897 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1717A>T (p.Met573Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV003802777] ChrX:78009111 [GRCh38]
ChrX:77264608 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848) copy number gain not specified [RCV003986211] ChrX:61877278..79122848 [GRCh37]
ChrX:Xq11.1-21.1		 pathogenic
NC_000023.11:g.77910249G>A single nucleotide variant ATP7A-related disorder [RCV003892221]|not provided [RCV003439690] ChrX:77910249 [GRCh38]
ChrX:77165746 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4167A>T (p.Gly1389=) single nucleotide variant Menkes kinky-hair syndrome [RCV003802295] ChrX:78045513 [GRCh38]
ChrX:77301010 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.860A>G (p.His287Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003802476] ChrX:77989482 [GRCh38]
ChrX:77244978 [GRCh37]
ChrX:Xq21.1		 likely benign
GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081) copy number gain not specified [RCV003986197] ChrX:68040342..100863081 [GRCh37]
ChrX:Xq13.1-22.1		 pathogenic
GRCh37/hg19 Xq21.1(chrX:77224405-77392096) copy number gain not specified [RCV003986227] ChrX:77224405..77392096 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xq21.1(chrX:77145900-77174083) copy number gain not specified [RCV003986278] ChrX:77145900..77174083 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1645C>G (p.Leu549Val) single nucleotide variant Menkes kinky-hair syndrome [RCV003802172] ChrX:78003174 [GRCh38]
ChrX:77258671 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3666G>C (p.Leu1222=) single nucleotide variant Menkes kinky-hair syndrome [RCV003802253] ChrX:78040598 [GRCh38]
ChrX:77296096 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1524G>A (p.Arg508=) single nucleotide variant Menkes kinky-hair syndrome [RCV003803960] ChrX:77998665 [GRCh38]
ChrX:77254162 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2917-14C>T single nucleotide variant Menkes kinky-hair syndrome [RCV003803088] ChrX:78029236 [GRCh38]
ChrX:77284733 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.870_871del (p.Ser293fs) deletion ATP7A-related disorder [RCV003949025]|Menkes kinky-hair syndrome [RCV003803245] ChrX:77989492..77989493 [GRCh38]
ChrX:77244988..77244989 [GRCh37]
ChrX:Xq21.1		 pathogenic|likely pathogenic
NM_000052.7(ATP7A):c.2627-19A>T single nucleotide variant Menkes kinky-hair syndrome [RCV003802106] ChrX:78020225 [GRCh38]
ChrX:77275722 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2917-15G>T single nucleotide variant Menkes kinky-hair syndrome [RCV003803412] ChrX:78029235 [GRCh38]
ChrX:77284732 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.46G>T (p.Gly16Cys) single nucleotide variant Menkes kinky-hair syndrome [RCV003803318] ChrX:77971687 [GRCh38]
ChrX:77227184 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1707+16del deletion Menkes kinky-hair syndrome [RCV003803716] ChrX:78003247 [GRCh38]
ChrX:77258744 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.4005+17G>C single nucleotide variant Menkes kinky-hair syndrome [RCV003803673] ChrX:78042805 [GRCh38]
ChrX:77298303 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3802-15A>G single nucleotide variant Menkes kinky-hair syndrome [RCV003802619] ChrX:78042570 [GRCh38]
ChrX:77298068 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2949G>C (p.Thr983=) single nucleotide variant Menkes kinky-hair syndrome [RCV003802656] ChrX:78029282 [GRCh38]
ChrX:77284779 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1979T>C (p.Phe660Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV003802743] ChrX:78011481 [GRCh38]
ChrX:77266978 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.189G>A (p.Gln63=) single nucleotide variant Menkes kinky-hair syndrome [RCV003802859] ChrX:77988310 [GRCh38]
ChrX:77243806 [GRCh37]
ChrX:Xq21.1		 likely benign
NC_000023.11:g.77910214G>C single nucleotide variant ATP7A-related disorder [RCV003894098]|not provided [RCV004721237] ChrX:77910214 [GRCh38]
ChrX:77165711 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2645C>T (p.Ala882Val) single nucleotide variant Inborn genetic diseases [RCV004418803] ChrX:78020262 [GRCh38]
ChrX:77275759 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NM_000052.7(ATP7A):c.2376A>G (p.Ala792=) single nucleotide variant ATP7A-related disorder [RCV003912008]|Menkes kinky-hair syndrome [RCV005209653] ChrX:78013082 [GRCh38]
ChrX:77268579 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.-10G>C single nucleotide variant ATP7A-related disorder [RCV003931905] ChrX:77971632 [GRCh38]
ChrX:77227129 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1083A>C (p.Ser361=) single nucleotide variant not provided [RCV003884147] ChrX:77989705 [GRCh38]
ChrX:77245201 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1337-1745T>C single nucleotide variant not provided [RCV004018262] ChrX:77996733 [GRCh38]
ChrX:77252230 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4223A>T (p.Lys1408Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV004555767] ChrX:78045569 [GRCh38]
ChrX:77301066 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_001029891.3(PGAM4):c.41G>A (p.Ser14Asn) single nucleotide variant not specified [RCV004498497] ChrX:77969598 [GRCh38]
ChrX:77225095 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2774_2775del (p.Thr925fs) deletion Cutis laxa, X-linked [RCV004566571]|Menkes kinky-hair syndrome [RCV004566572]|X-linked distal spinal muscular atrophy type 3 [RCV004566573] ChrX:78020390..78020391 [GRCh38]
ChrX:77275887..77275888 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_001029891.3(PGAM4):c.364C>T (p.Pro122Ser) single nucleotide variant not specified [RCV004498496] ChrX:77969275 [GRCh38]
ChrX:77224772 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4245C>G (p.Tyr1415Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV004573937] ChrX:78046312 [GRCh38]
ChrX:77301809 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NC_000023.10:g.(?_76972588)_(77302067_?)del deletion Alpha thalassemia-X-linked intellectual disability syndrome [RCV004580061]|Menkes kinky-hair syndrome [RCV004580062] ChrX:76972588..77302067 [GRCh37]
ChrX:Xq21.1		 pathogenic
NC_000023.10:g.(?_76907584)_(77381327_?)dup duplication Alpha thalassemia-X-linked intellectual disability syndrome [RCV004580084] ChrX:76907584..77381327 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_76890065)_(77302067_?)dup duplication Alpha thalassemia-X-linked intellectual disability syndrome [RCV004580095] ChrX:76890065..77302067 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77227139)_(77289339_?)del deletion Menkes kinky-hair syndrome [RCV004580326] ChrX:77227139..77289339 [GRCh37]
ChrX:Xq21.1		 pathogenic
NC_000023.10:g.(?_77264579)_(77268629_?)del deletion Menkes kinky-hair syndrome [RCV004580337] ChrX:77264579..77268629 [GRCh37]
ChrX:Xq21.1		 pathogenic
NC_000023.10:g.(?_76829695)_(77381327_?)dup duplication Menkes kinky-hair syndrome [RCV004580348] ChrX:76829695..77381327 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77268356)_(77271398_?)del deletion Menkes kinky-hair syndrome [RCV004580304] ChrX:77268356..77271398 [GRCh37]
ChrX:Xq21.1		 pathogenic
NC_000023.10:g.(?_77227139)_(77271398_?)del deletion Menkes kinky-hair syndrome [RCV004580315] ChrX:77227139..77271398 [GRCh37]
ChrX:Xq21.1		 pathogenic
NC_000023.10:g.(?_77227139)_(77275915_?)dup duplication Menkes kinky-hair syndrome [RCV004580370] ChrX:77227139..77275915 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77227139)_(77284961_?)dup duplication Menkes kinky-hair syndrome [RCV004580381] ChrX:77227139..77284961 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77300947)_(77381327_?)dup duplication Menkes kinky-hair syndrome [RCV004580393] ChrX:77300947..77381327 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77266653)_(77302067_?)dup duplication Menkes kinky-hair syndrome [RCV004580404] ChrX:77266653..77302067 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_77289083)_(77301089_?)dup duplication Menkes kinky-hair syndrome [RCV004580359] ChrX:77289083..77301089 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NM_001029891.3(PGAM4):c.538C>T (p.Arg180Cys) single nucleotide variant not specified [RCV004655782] ChrX:77969101 [GRCh38]
ChrX:77224598 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4253dup (p.Tyr1418Ter) duplication Menkes kinky-hair syndrome [RCV004573936] ChrX:78046319..78046320 [GRCh38]
ChrX:77301816..77301817 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1142T>A (p.Ile381Lys) single nucleotide variant not provided [RCV004576039] ChrX:77989764 [GRCh38]
ChrX:77245260 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3563T>C (p.Met1188Thr) single nucleotide variant not provided [RCV004588621] ChrX:78038887 [GRCh38]
ChrX:77294385 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1016C>A (p.Ser339Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV004594894] ChrX:77989638 [GRCh38]
ChrX:77245134 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_001029891.3(PGAM4):c.106G>A (p.Glu36Lys) single nucleotide variant not specified [RCV004655784] ChrX:77969533 [GRCh38]
ChrX:77225030 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3448A>C (p.Ile1150Leu) single nucleotide variant Inborn genetic diseases [RCV004680472] ChrX:78033758 [GRCh38]
ChrX:77289256 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3547G>A (p.Gly1183Ser) single nucleotide variant Cutis laxa, X-linked [RCV004698367] ChrX:78038871 [GRCh38]
ChrX:77294369 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4325A>C (p.Asp1442Ala) single nucleotide variant not provided [RCV004780017] ChrX:78046392 [GRCh38]
ChrX:77301889 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3373A>G (p.Asn1125Asp) single nucleotide variant not provided [RCV004772593] ChrX:78033683 [GRCh38]
ChrX:77289181 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.10:g.(?_54610638)_(154689386_?)dup duplication Hereditary factor VIII deficiency disease [RCV004768478] ChrX:54610638..154689386 [GRCh37]
ChrX:Xp11.22-q28		 uncertain significance
NM_000052.7(ATP7A):c.2289T>G (p.Ile763Met) single nucleotide variant Menkes kinky-hair syndrome [RCV004764336] ChrX:78012995 [GRCh38]
ChrX:77268492 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2388G>A (p.Trp796Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV004701241] ChrX:78013094 [GRCh38]
ChrX:77268591 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2123G>C (p.Gly708Ala) single nucleotide variant not provided [RCV004769580] ChrX:78011625 [GRCh38]
ChrX:77267122 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2329C>T (p.Pro777Ser) single nucleotide variant not provided [RCV004762613] ChrX:78013035 [GRCh38]
ChrX:77268532 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4449C>G (p.Asp1483Glu) single nucleotide variant not provided [RCV004770703] ChrX:78046516 [GRCh38]
ChrX:77302013 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1852A>T (p.Ile618Phe) single nucleotide variant not provided [RCV004771205] ChrX:78009246 [GRCh38]
ChrX:77264743 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.153T>G (p.Ile51Met) single nucleotide variant not provided [RCV004764012] ChrX:77988274 [GRCh38]
ChrX:77243770 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.907C>T (p.Gln303Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV004794729] ChrX:77989529 [GRCh38]
ChrX:77245025 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.4402C>A (p.Leu1468Met) single nucleotide variant not provided [RCV004790914] ChrX:78046469 [GRCh38]
ChrX:77301966 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4426del (p.Ser1476fs) deletion not provided [RCV004773707] ChrX:78046493 [GRCh38]
ChrX:77301990 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1663G>A (p.Val555Met) single nucleotide variant not provided [RCV004762843] ChrX:78003192 [GRCh38]
ChrX:77258689 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.563C>T (p.Thr188Ile) single nucleotide variant not provided [RCV004722187] ChrX:77988684 [GRCh38]
ChrX:77244180 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1864A>T (p.Ile622Phe) single nucleotide variant not provided [RCV004771251] ChrX:78009258 [GRCh38]
ChrX:77264755 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.184C>A (p.Leu62Ile) single nucleotide variant not provided [RCV004773998] ChrX:77988305 [GRCh38]
ChrX:77243801 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_001029891.3(PGAM4):c.449T>G (p.Leu150Arg) single nucleotide variant not specified [RCV004842266] ChrX:77969190 [GRCh38]
ChrX:77224687 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_001029891.3(PGAM4):c.700G>C (p.Gly234Arg) single nucleotide variant not specified [RCV004842263] ChrX:77968939 [GRCh38]
ChrX:77224436 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_001029891.3(PGAM4):c.52C>G (p.Leu18Val) single nucleotide variant not specified [RCV004842268] ChrX:77969587 [GRCh38]
ChrX:77225084 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4139T>A (p.Ile1380Asn) single nucleotide variant Inborn genetic diseases [RCV004967023] ChrX:78045485 [GRCh38]
ChrX:77300982 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3731A>C (p.Lys1244Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV005041898] ChrX:78040663 [GRCh38]
ChrX:77296161 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3928del (p.Ala1310fs) deletion Menkes kinky-hair syndrome [RCV005041899] ChrX:78042710 [GRCh38]
ChrX:77298208 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.1604C>T (p.Ala535Val) single nucleotide variant Inborn genetic diseases [RCV004967033] ChrX:78003133 [GRCh38]
ChrX:77258630 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.188A>C (p.Gln63Pro) single nucleotide variant Inborn genetic diseases [RCV004967025] ChrX:77988309 [GRCh38]
ChrX:77243805 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1202A>G (p.Lys401Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV005211911] ChrX:77989824 [GRCh38]
ChrX:77245320 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3801+10del deletion Menkes kinky-hair syndrome [RCV005229232] ChrX:78040743 [GRCh38]
ChrX:77296241 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3493A>G (p.Ile1165Val) single nucleotide variant Menkes kinky-hair syndrome [RCV005229278] ChrX:78033803 [GRCh38]
ChrX:77289301 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4071A>G (p.Ile1357Met) single nucleotide variant Menkes kinky-hair syndrome [RCV005228541] ChrX:78043382 [GRCh38]
ChrX:77298880 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1755T>C (p.Ser585=) single nucleotide variant Menkes kinky-hair syndrome [RCV005214546] ChrX:78009149 [GRCh38]
ChrX:77264646 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3531G>T (p.Gln1177His) single nucleotide variant Menkes kinky-hair syndrome [RCV005214655] ChrX:78038855 [GRCh38]
ChrX:77294353 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3840T>C (p.Ser1280=) single nucleotide variant Menkes kinky-hair syndrome [RCV005228073] ChrX:78042623 [GRCh38]
ChrX:77298121 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3671G>T (p.Gly1224Val) single nucleotide variant Menkes kinky-hair syndrome [RCV005229452] ChrX:78040603 [GRCh38]
ChrX:77296101 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4048A>G (p.Lys1350Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV005228879] ChrX:78043359 [GRCh38]
ChrX:77298857 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.707C>T (p.Ala236Val) single nucleotide variant Menkes kinky-hair syndrome [RCV005226047] ChrX:77989329 [GRCh38]
ChrX:77244825 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1A>C (p.Met1Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV005215314] ChrX:77971642 [GRCh38]
ChrX:77227139 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1987C>T (p.Pro663Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV005228699] ChrX:78011489 [GRCh38]
ChrX:77266986 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2199del (p.Gln734fs) deletion Menkes kinky-hair syndrome [RCV005088468] ChrX:78012904 [GRCh38]
ChrX:77268401 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.2042T>C (p.Leu681Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV005227063] ChrX:78011544 [GRCh38]
ChrX:77267041 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3389T>C (p.Leu1130Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV005225867] ChrX:78033699 [GRCh38]
ChrX:77289197 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2917-14C>G single nucleotide variant Menkes kinky-hair syndrome [RCV005226343] ChrX:78029236 [GRCh38]
ChrX:77284733 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1085C>A (p.Ser362Tyr) single nucleotide variant Menkes kinky-hair syndrome [RCV005211910] ChrX:77989707 [GRCh38]
ChrX:77245203 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1400C>A (p.Thr467Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV005211913] ChrX:77998541 [GRCh38]
ChrX:77254038 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2870T>G (p.Ile957Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV005211920] ChrX:78021033 [GRCh38]
ChrX:77276530 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3949G>C (p.Ala1317Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV005211927] ChrX:78042732 [GRCh38]
ChrX:77298230 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3377T>C (p.Ile1126Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV005210881] ChrX:78033687 [GRCh38]
ChrX:77289185 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3158C>A (p.Thr1053Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV005210654] ChrX:78031446 [GRCh38]
ChrX:77286944 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2337T>A (p.Thr779=) single nucleotide variant Menkes kinky-hair syndrome [RCV005226103] ChrX:78013043 [GRCh38]
ChrX:77268540 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2059A>C (p.Met687Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV005211170] ChrX:78011561 [GRCh38]
ChrX:77267058 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.524T>C (p.Met175Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV005226708] ChrX:77988645 [GRCh38]
ChrX:77244141 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.489T>C (p.His163=) single nucleotide variant Menkes kinky-hair syndrome [RCV005226838] ChrX:77988610 [GRCh38]
ChrX:77244106 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1585G>A (p.Glu529Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV005211698] ChrX:78003114 [GRCh38]
ChrX:77258611 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.850G>A (p.Asp284Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV005211907] ChrX:77989472 [GRCh38]
ChrX:77244968 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.854G>A (p.Gly285Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV005211908] ChrX:77989476 [GRCh38]
ChrX:77244972 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1253C>T (p.Thr418Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV005211912] ChrX:77989875 [GRCh38]
ChrX:77245371 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1748A>G (p.Glu583Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV005211914] ChrX:78009142 [GRCh38]
ChrX:77264639 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2467G>C (p.Val823Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV005211915] ChrX:78014722 [GRCh38]
ChrX:77270219 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3671G>A (p.Gly1224Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV005211925] ChrX:78040603 [GRCh38]
ChrX:77296101 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4465G>A (p.Val1489Met) single nucleotide variant Menkes kinky-hair syndrome [RCV005211928] ChrX:78046532 [GRCh38]
ChrX:77302029 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1562T>G (p.Val521Gly) single nucleotide variant Menkes kinky-hair syndrome [RCV005227024] ChrX:78003091 [GRCh38]
ChrX:77258588 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1562T>C (p.Val521Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV005210112] ChrX:78003091 [GRCh38]
ChrX:77258588 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2486A>G (p.Asn829Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV005214137] ChrX:78014741 [GRCh38]
ChrX:77270238 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1708-4dup duplication Menkes kinky-hair syndrome [RCV005212601] ChrX:78009096..78009097 [GRCh38]
ChrX:77264593..77264594 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3294+3A>G single nucleotide variant Menkes kinky-hair syndrome [RCV005228231] ChrX:78031585 [GRCh38]
ChrX:77287083 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3293A>T (p.Gln1098Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV005229021] ChrX:78031581 [GRCh38]
ChrX:77287079 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.459G>A (p.Leu153=) single nucleotide variant Menkes kinky-hair syndrome [RCV005229467] ChrX:77988580 [GRCh38]
ChrX:77244076 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1754G>C (p.Ser585Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV005211053] ChrX:78009148 [GRCh38]
ChrX:77264645 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.308T>G (p.Ile103Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV005211048] ChrX:77988429 [GRCh38]
ChrX:77243925 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2013G>C (p.Met671Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV005225996] ChrX:78011515 [GRCh38]
ChrX:77267012 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2473C>G (p.Leu825Val) single nucleotide variant Menkes kinky-hair syndrome [RCV005226612] ChrX:78014728 [GRCh38]
ChrX:77270225 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1950G>C (p.Trp650Cys) single nucleotide variant Menkes kinky-hair syndrome [RCV005226501] ChrX:78011452 [GRCh38]
ChrX:77266949 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1899G>A (p.Lys633=) single nucleotide variant Menkes kinky-hair syndrome [RCV005213056] ChrX:78011205 [GRCh38]
ChrX:77266702 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2596C>T (p.His866Tyr) single nucleotide variant Menkes kinky-hair syndrome [RCV005211917] ChrX:78015851 [GRCh38]
ChrX:77271348 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3917C>T (p.Ser1306Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV005211926] ChrX:78042700 [GRCh38]
ChrX:77298198 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3288C>T (p.Cys1096=) single nucleotide variant Menkes kinky-hair syndrome [RCV005228609] ChrX:78031576 [GRCh38]
ChrX:77287074 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3512-8A>T single nucleotide variant Menkes kinky-hair syndrome [RCV005211293] ChrX:78038828 [GRCh38]
ChrX:77294326 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3658+12C>T single nucleotide variant Menkes kinky-hair syndrome [RCV005211503] ChrX:78038994 [GRCh38]
ChrX:77294492 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2267T>C (p.Ile756Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV005210435] ChrX:78012973 [GRCh38]
ChrX:77268470 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.905T>C (p.Leu302Pro) single nucleotide variant Menkes kinky-hair syndrome [RCV005211909] ChrX:77989527 [GRCh38]
ChrX:77245023 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2536G>A (p.Asp846Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV005211916] ChrX:78015791 [GRCh38]
ChrX:77271288 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3623G>A (p.Arg1208Lys) single nucleotide variant Menkes kinky-hair syndrome [RCV005211924] ChrX:78038947 [GRCh38]
ChrX:77294445 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2637G>T (p.Met879Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV005211919] ChrX:78020254 [GRCh38]
ChrX:77275751 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3505A>C (p.Ile1169Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV005211923] ChrX:78033815 [GRCh38]
ChrX:77289313 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.395C>A (p.Ser132Tyr) single nucleotide variant Menkes kinky-hair syndrome [RCV005211904] ChrX:77988516 [GRCh38]
ChrX:77244012 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.557C>T (p.Thr186Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV005211905] ChrX:77988678 [GRCh38]
ChrX:77244174 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.833C>T (p.Thr278Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV005211906] ChrX:77989455 [GRCh38]
ChrX:77244951 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2632G>A (p.Ala878Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV005211918] ChrX:78020249 [GRCh38]
ChrX:77275746 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3094T>G (p.Leu1032Val) single nucleotide variant Menkes kinky-hair syndrome [RCV005211921] ChrX:78029427 [GRCh38]
ChrX:77284924 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3397A>G (p.Asn1133Asp) single nucleotide variant Menkes kinky-hair syndrome [RCV005211922] ChrX:78033707 [GRCh38]
ChrX:77289205 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1776C>G (p.Ile592Met) single nucleotide variant Menkes kinky-hair syndrome [RCV005226517] ChrX:78009170 [GRCh38]
ChrX:77264667 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.208G>C (p.Gly70Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV005211491] ChrX:77988329 [GRCh38]
ChrX:77243825 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.4017G>C (p.Leu1339=) single nucleotide variant Menkes kinky-hair syndrome [RCV005211493] ChrX:78043328 [GRCh38]
ChrX:77298826 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1797G>A (p.Leu599=) single nucleotide variant Menkes kinky-hair syndrome [RCV005210306] ChrX:78009191 [GRCh38]
ChrX:77264688 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2627-12C>T single nucleotide variant Menkes kinky-hair syndrome [RCV005210149] ChrX:78020232 [GRCh38]
ChrX:77275729 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.778G>A (p.Val260Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV005228550] ChrX:77989400 [GRCh38]
ChrX:77244896 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1376C>A (p.Ser459Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV005218153] ChrX:77998517 [GRCh38]
ChrX:77254014 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3512-16C>A single nucleotide variant Menkes kinky-hair syndrome [RCV005218196] ChrX:78038820 [GRCh38]
ChrX:77294318 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2827C>T (p.Pro943Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV005222021] ChrX:78020990 [GRCh38]
ChrX:77276487 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1029T>C (p.Tyr343=) single nucleotide variant Menkes kinky-hair syndrome [RCV005215592] ChrX:77989651 [GRCh38]
ChrX:77245147 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.329C>T (p.Thr110Ile) single nucleotide variant Menkes kinky-hair syndrome [RCV005216313] ChrX:77988450 [GRCh38]
ChrX:77243946 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.279G>A (p.Thr93=) single nucleotide variant Menkes kinky-hair syndrome [RCV005217249] ChrX:77988400 [GRCh38]
ChrX:77243896 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3652G>C (p.Val1218Leu) single nucleotide variant Menkes kinky-hair syndrome [RCV005217202] ChrX:78038976 [GRCh38]
ChrX:77294474 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.297A>G (p.Pro99=) single nucleotide variant Menkes kinky-hair syndrome [RCV005219478] ChrX:77988418 [GRCh38]
ChrX:77243914 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1924G>T (p.Asp642Tyr) single nucleotide variant Menkes kinky-hair syndrome [RCV005216516] ChrX:78011230 [GRCh38]
ChrX:77266727 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2499-17T>C single nucleotide variant Menkes kinky-hair syndrome [RCV005218889] ChrX:78015737 [GRCh38]
ChrX:77271234 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.120+9C>T single nucleotide variant Menkes kinky-hair syndrome [RCV005219200] ChrX:77971770 [GRCh38]
ChrX:77227267 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3681C>T (p.Ala1227=) single nucleotide variant Menkes kinky-hair syndrome [RCV005223417] ChrX:78040613 [GRCh38]
ChrX:77296111 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1708-5A>G single nucleotide variant Menkes kinky-hair syndrome [RCV005217148] ChrX:78009097 [GRCh38]
ChrX:77264594 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.216T>C (p.Asp72=) single nucleotide variant Menkes kinky-hair syndrome [RCV005219444] ChrX:77988337 [GRCh38]
ChrX:77243833 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.152T>C (p.Ile51Thr) single nucleotide variant Menkes kinky-hair syndrome [RCV005224584] ChrX:77988273 [GRCh38]
ChrX:77243769 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2924A>C (p.Asn975Thr) single nucleotide variant not provided [RCV005241626] ChrX:78029257 [GRCh38]
ChrX:77284754 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1266T>A (p.Asp422Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV005224795] ChrX:77989888 [GRCh38]
ChrX:77245384 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2917-2A>G single nucleotide variant not provided [RCV005236118] ChrX:78029248 [GRCh38]
ChrX:77284745 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.3653T>C (p.Val1218Ala) single nucleotide variant Menkes kinky-hair syndrome [RCV005218576] ChrX:78038977 [GRCh38]
ChrX:77294475 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2626+19T>G single nucleotide variant Menkes kinky-hair syndrome [RCV005223313] ChrX:78015900 [GRCh38]
ChrX:77271397 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3690C>A (p.Asp1230Glu) single nucleotide variant Menkes kinky-hair syndrome [RCV005224161] ChrX:78040622 [GRCh38]
ChrX:77296120 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1395T>A (p.Thr465=) single nucleotide variant Menkes kinky-hair syndrome [RCV005224625] ChrX:77998536 [GRCh38]
ChrX:77254033 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.399A>G (p.Ile133Met) single nucleotide variant Menkes kinky-hair syndrome [RCV005221695] ChrX:77988520 [GRCh38]
ChrX:77244016 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3825T>C (p.Ala1275=) single nucleotide variant Menkes kinky-hair syndrome [RCV005224180] ChrX:78042608 [GRCh38]
ChrX:77298106 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1358_1363del (p.Val453_Ile454del) deletion Menkes kinky-hair syndrome [RCV005222104] ChrX:77998496..77998501 [GRCh38]
ChrX:77253993..77253998 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1500T>G (p.Ala500=) single nucleotide variant Menkes kinky-hair syndrome [RCV005224666] ChrX:77998641 [GRCh38]
ChrX:77254138 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.372T>C (p.Thr124=) single nucleotide variant Menkes kinky-hair syndrome [RCV005220064] ChrX:77988493 [GRCh38]
ChrX:77243989 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1336+10A>C single nucleotide variant Menkes kinky-hair syndrome [RCV005218045] ChrX:77989968 [GRCh38]
ChrX:77245464 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2197A>G (p.Ile733Val) single nucleotide variant Menkes kinky-hair syndrome [RCV005219054] ChrX:78012903 [GRCh38]
ChrX:77268400 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.599A>G (p.Gln200Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV005216887] ChrX:77988720 [GRCh38]
ChrX:77244216 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.776del (p.Pro259fs) deletion Menkes kinky-hair syndrome [RCV005217966] ChrX:77989397 [GRCh38]
ChrX:77244893 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1361T>G (p.Ile454Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV005222592] ChrX:77998502 [GRCh38]
ChrX:77253999 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.610+5T>C single nucleotide variant Menkes kinky-hair syndrome [RCV005220357] ChrX:77988736 [GRCh38]
ChrX:77244232 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.2473C>T (p.Leu825Phe) single nucleotide variant Menkes kinky-hair syndrome [RCV005216412] ChrX:78014728 [GRCh38]
ChrX:77270225 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2781_2781+1delinsTT indel Menkes kinky-hair syndrome [RCV005224101] ChrX:78020398..78020399 [GRCh38]
ChrX:77275895..77275896 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_000052.7(ATP7A):c.3264A>G (p.Leu1088=) single nucleotide variant Menkes kinky-hair syndrome [RCV005218685] ChrX:78031552 [GRCh38]
ChrX:77287050 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2267T>G (p.Ile756Ser) single nucleotide variant Menkes kinky-hair syndrome [RCV005222112] ChrX:78012973 [GRCh38]
ChrX:77268470 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.615C>T (p.Ser205=) single nucleotide variant Menkes kinky-hair syndrome [RCV005223363] ChrX:77989237 [GRCh38]
ChrX:77244733 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2626+11T>C single nucleotide variant Menkes kinky-hair syndrome [RCV005217577] ChrX:78015892 [GRCh38]
ChrX:77271389 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3294+8T>G single nucleotide variant Menkes kinky-hair syndrome [RCV005219763] ChrX:78031590 [GRCh38]
ChrX:77287088 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2626+16G>C single nucleotide variant Menkes kinky-hair syndrome [RCV005218790] ChrX:78015897 [GRCh38]
ChrX:77271394 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1761A>G (p.Thr587=) single nucleotide variant Menkes kinky-hair syndrome [RCV005217559] ChrX:78009155 [GRCh38]
ChrX:77264652 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4227-13T>G single nucleotide variant Menkes kinky-hair syndrome [RCV005218938] ChrX:78046281 [GRCh38]
ChrX:77301778 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3659-15C>T single nucleotide variant Menkes kinky-hair syndrome [RCV005221335] ChrX:78040576 [GRCh38]
ChrX:77296074 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1221C>T (p.Ser407=) single nucleotide variant Menkes kinky-hair syndrome [RCV005223616] ChrX:77989843 [GRCh38]
ChrX:77245339 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1870-7T>A single nucleotide variant Menkes kinky-hair syndrome [RCV005252216] ChrX:78011169 [GRCh38]
ChrX:77266666 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3632_3633delinsTACTACA (p.Arg1211fs) indel not provided [RCV005255168] ChrX:78038956..78038957 [GRCh38]
ChrX:77294454..77294455 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.1540G>T (p.Glu514Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV005253343] ChrX:77998681 [GRCh38]
ChrX:77254178 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
NM_001029891.3(PGAM4):c.82G>C (p.Ala28Pro) single nucleotide variant not specified [RCV005387054] ChrX:77969557 [GRCh38]
ChrX:77225054 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_001029891.3(PGAM4):c.596G>C (p.Gly199Ala) single nucleotide variant not specified [RCV005387055] ChrX:77969043 [GRCh38]
ChrX:77224540 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1544-809T>G single nucleotide variant not provided [RCV005425510] ChrX:78002264 [GRCh38]
ChrX:77257761 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2955A>G (p.Ile985Met) single nucleotide variant not provided [RCV005423315] ChrX:78029288 [GRCh38]
ChrX:77284785 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3826G>T (p.Glu1276Ter) single nucleotide variant Menkes kinky-hair syndrome [RCV005417844] ChrX:78042609 [GRCh38]
ChrX:77298107 [GRCh37]
ChrX:Xq21.1		 pathogenic
NM_000052.7(ATP7A):c.920G>C (p.Ser307Thr) single nucleotide variant not provided [RCV005415766] ChrX:77989542 [GRCh38]
ChrX:77245038 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.775C>A (p.Pro259Thr) single nucleotide variant not provided [RCV005402539] ChrX:77989397 [GRCh38]
ChrX:77244893 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.543C>A (p.Thr181=) single nucleotide variant not provided [RCV005425639] ChrX:77988664 [GRCh38]
ChrX:77244160 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.3086G>T (p.Gly1029Val) single nucleotide variant not provided [RCV005415206] ChrX:78029419 [GRCh38]
ChrX:77284916 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_001029891.3(PGAM4):c.422G>A (p.Arg141Lys) single nucleotide variant not specified [RCV004842265] ChrX:77969217 [GRCh38]
ChrX:77224714 [GRCh37]
ChrX:Xq21.1		 uncertain significance
GRCh37/hg19 Xq21.1(chrX:76707749-77398963)x2 copy number gain not provided [RCV001007316] ChrX:76707749..77398963 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.3913G>A (p.Asp1305Asn) single nucleotide variant Menkes kinky-hair syndrome [RCV000990883] ChrX:78042696 [GRCh38]
ChrX:77298194 [GRCh37]
ChrX:Xq21.1		 likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_000052.7(ATP7A):c.4266C>T (p.Ala1422=) single nucleotide variant Menkes kinky-hair syndrome [RCV001400793] ChrX:78046333 [GRCh38]
ChrX:77301830 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.1157T>G (p.Met386Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV002021819] ChrX:77989779 [GRCh38]
ChrX:77245275 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_000052.7(ATP7A):c.1543+17G>A single nucleotide variant Menkes kinky-hair syndrome [RCV002207497] ChrX:77998701 [GRCh38]
ChrX:77254198 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4132A>G (p.Met1378Val) single nucleotide variant Menkes kinky-hair syndrome [RCV002108952]|not provided [RCV004763334] ChrX:78045478 [GRCh38]
ChrX:77300975 [GRCh37]
ChrX:Xq21.1		 likely benign|uncertain significance
NM_000052.7(ATP7A):c.2361G>A (p.Leu787=) single nucleotide variant Menkes kinky-hair syndrome [RCV002108232] ChrX:78013067 [GRCh38]
ChrX:77268564 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.2782-9T>C single nucleotide variant Menkes kinky-hair syndrome [RCV002886581] ChrX:78020936 [GRCh38]
ChrX:77276433 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.4089A>G (p.Leu1363=) single nucleotide variant Menkes kinky-hair syndrome [RCV003057185] ChrX:78043400 [GRCh38]
ChrX:77298898 [GRCh37]
ChrX:Xq21.1		 benign
NM_000052.7(ATP7A):c.8C>G (p.Pro3Arg) single nucleotide variant Menkes kinky-hair syndrome [RCV003072370] ChrX:77971649 [GRCh38]
ChrX:77227146 [GRCh37]
ChrX:Xq21.1		 likely benign
NM_000052.7(ATP7A):c.47G>T (p.Gly16Val) single nucleotide variant not provided [RCV003457185] ChrX:77971688 [GRCh38]
ChrX:77227185 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NC_000023.11:g.(?_66445907)_(78172208_?)dup duplication Xq13q21 duplication [RCV003885331] ChrX:66445907..78172208 [GRCh38]
ChrX:Xq12-21.1		 pathogenic
NM_000052.7(ATP7A):c.536G>A (p.Gly179Glu) single nucleotide variant Inborn genetic diseases [RCV004687791] ChrX:77988657 [GRCh38]
ChrX:77244153 [GRCh37]
ChrX:Xq21.1		 uncertain significance
NM_001029891.3(PGAM4):c.346A>T (p.Arg116Trp) single nucleotide variant not specified [RCV004842264] ChrX:77969293 [GRCh38]
ChrX:77224790 [GRCh37]
ChrX:Xq21.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:8360
Count of miRNA genes:1175
Interacting mature miRNAs:1450
Transcripts:ENST00000341514, ENST00000343533, ENST00000350425
Prediction methods:Microtar, Miranda, Pita
Result types:miRGate_prediction

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

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

Markers in Region
DXS986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X79,381,030 - 79,381,190UniSTSGRCh37
Build 36X79,267,686 - 79,267,846RGDNCBI36
CeleraX79,621,032 - 79,621,192RGD
Cytogenetic MapXq21.1UniSTS
HuRefX72,962,106 - 72,962,266UniSTS
Marshfield Genetic MapX57.37RGD
Marshfield Genetic MapX57.37UniSTS
Genethon Genetic MapX95.9UniSTS
deCODE Assembly MapX86.84UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X93,000,646 - 93,000,819UniSTSGRCh37
GRCh37X93,000,657 - 93,000,817UniSTSGRCh37
Build 36X92,887,302 - 92,887,475RGDNCBI36
CeleraX93,525,899 - 93,526,061UniSTS
CeleraX93,525,888 - 93,526,063RGD
HuRefX82,823,341 - 82,823,503UniSTS
HuRefX82,823,330 - 82,823,505UniSTS
Marshfield Genetic MapX60.62RGD
Genethon Genetic MapX104.9UniSTS
TNG Radiation Hybrid MapX21162.0UniSTS
deCODE Assembly MapX94.92UniSTS
Stanford-G3 RH MapX3100.0UniSTS
GeneMap99-GB4 RH MapX268.56UniSTS
Whitehead-YAC Contig MapX UniSTS
GeneMap99-G3 RH MapX3000.0UniSTS
GDB:437238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,258,244 - 77,258,427UniSTSGRCh37
Build 36X77,144,900 - 77,145,083RGDNCBI36
CeleraX77,499,328 - 77,499,511RGD
Cytogenetic MapXq21.1UniSTS
HuRefX70,844,786 - 70,844,969UniSTS
DXS1494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,292,523 - 77,292,594UniSTSGRCh37
Build 36X77,179,179 - 77,179,250RGDNCBI36
CeleraX77,533,606 - 77,533,677RGD
Cytogenetic MapXq21.1UniSTS
HuRefX70,879,026 - 70,879,097UniSTS
GDB:392043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,242,911 - 77,243,034UniSTSGRCh37
Build 36X77,129,567 - 77,129,690RGDNCBI36
CeleraX77,483,996 - 77,484,119RGD
Cytogenetic MapXq21.1UniSTS
HuRefX70,829,516 - 70,829,641UniSTS
L77252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,174,733 - 77,174,814UniSTSGRCh37
Build 36X77,061,389 - 77,061,470RGDNCBI36
CeleraX77,415,598 - 77,415,679RGD
Cytogenetic MapXq21.1UniSTS
HuRefX70,761,504 - 70,761,585UniSTS
L47618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,174,733 - 77,174,852UniSTSGRCh37
Build 36X77,061,389 - 77,061,508RGDNCBI36
CeleraX77,415,598 - 77,415,717RGD
Cytogenetic MapXq21.1UniSTS
HuRefX70,761,504 - 70,761,623UniSTS
ATP7A__4401  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,301,801 - 77,302,701UniSTSGRCh37
Build 36X77,188,457 - 77,189,357RGDNCBI36
CeleraX77,542,884 - 77,543,784RGD
HuRefX70,888,225 - 70,889,125UniSTS
G10612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,302,895 - 77,303,107UniSTSGRCh37
Build 36X77,189,551 - 77,189,763RGDNCBI36
CeleraX77,543,978 - 77,544,190RGD
Cytogenetic MapXq21.1UniSTS
HuRefX70,889,319 - 70,889,531UniSTS
SHGC-31483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,302,109 - 77,302,327UniSTSGRCh37
Build 36X77,188,765 - 77,188,983RGDNCBI36
CeleraX77,543,192 - 77,543,410RGD
Cytogenetic MapXq21.1UniSTS
HuRefX70,888,533 - 70,888,751UniSTS
GeneMap99-GB4 RH MapX246.43UniSTS
Whitehead-RH MapX198.9UniSTS
GeneMap99-G3 RH MapX2020.0UniSTS
AL023617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,225,064 - 77,225,224UniSTSGRCh37
Build 36X77,111,720 - 77,111,880RGDNCBI36
CeleraX77,466,148 - 77,466,308RGD
Cytogenetic MapXq13UniSTS
Cytogenetic MapXq21.1UniSTS
HuRefX70,811,787 - 70,811,947UniSTS
G18202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,277,098 - 77,277,294UniSTSGRCh37
Build 36X77,163,754 - 77,163,950RGDNCBI36
CeleraX77,518,182 - 77,518,378RGD
Cytogenetic MapXq21.1UniSTS
HuRefX70,863,530 - 70,863,726UniSTS
DXS6743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,364,353 - 71,364,619UniSTSGRCh37
Build 36X71,281,078 - 71,281,344RGDNCBI36
Cytogenetic MapXq21.1UniSTS
Cytogenetic MapXq13.1UniSTS
HuRefX65,119,812 - 65,120,072UniSTS
Marshfield Genetic MapX56.29UniSTS
Genethon Genetic MapX95.2UniSTS
deCODE Assembly MapX85.77UniSTS
Whitehead-RH MapX185.2UniSTS
Whitehead-YAC Contig MapX UniSTS
SHGC-8964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377151,359,276 - 151,359,479UniSTSGRCh37
GRCh37X77,195,578 - 77,197,249UniSTSGRCh37
Build 367150,990,209 - 150,990,412RGDNCBI36
CeleraX77,436,442 - 77,438,113UniSTS
Celera7145,916,589 - 145,916,792RGD
Cytogenetic Map7q36.1UniSTS
Cytogenetic MapXq21.1UniSTS
HuRef7145,171,525 - 145,171,728UniSTS
CRA_TCAGchr7v27150,688,544 - 150,688,747UniSTS
Stanford-G3 RH Map77784.0UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
L17971  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic MapXq22UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map20p11.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map9q34.13UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
L17877  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map9q21.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map17q25.3UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS
GDB:435280  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq21.1UniSTS
GDB:435283  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq21.1UniSTS
GDB:435290  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq21.1UniSTS
GDB:435294  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq21.1UniSTS
DXS990  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.22UniSTS
Cytogenetic MapXq21.1UniSTS
Marshfield Genetic MapX60.62UniSTS
Genethon Genetic MapX104.9UniSTS
deCODE Assembly MapX94.92UniSTS
Whitehead-YAC Contig MapX UniSTS


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 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB117973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL645821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL772330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY011418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY039755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP364137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU753163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX503903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD299174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB164588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ997615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC679684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L06133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L06476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z94753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z94801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000341514   ⟹   ENSP00000345728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,693 - 78,050,395 (+)Ensembl
Ensembl Acc Id: ENST00000343533   ⟹   ENSP00000343026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 78,050,395 (+)Ensembl
Ensembl Acc Id: ENST00000642523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,738 - 77,924,693 (+)Ensembl
Ensembl Acc Id: ENST00000642651   ⟹   ENSP00000495628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,740 - 77,975,726 (+)Ensembl
Ensembl Acc Id: ENST00000645094   ⟹   ENSP00000493605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,740 - 78,042,621 (+)Ensembl
Ensembl Acc Id: ENST00000645454   ⟹   ENSP00000496603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 77,975,950 (+)Ensembl
Ensembl Acc Id: ENST00000682475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX78,010,852 - 78,049,924 (+)Ensembl
Ensembl Acc Id: ENST00000682742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 78,009,353 (+)Ensembl
Ensembl Acc Id: ENST00000684798   ⟹   ENSP00000510429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 77,975,946 (+)Ensembl
Ensembl Acc Id: ENST00000685033   ⟹   ENSP00000509269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX78,014,662 - 78,050,395 (+)Ensembl
Ensembl Acc Id: ENST00000685208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 77,990,275 (+)Ensembl
Ensembl Acc Id: ENST00000685264   ⟹   ENSP00000510136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,709 - 78,046,859 (+)Ensembl
Ensembl Acc Id: ENST00000685434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 78,009,352 (+)Ensembl
Ensembl Acc Id: ENST00000685885   ⟹   ENSP00000510005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 77,989,958 (+)Ensembl
Ensembl Acc Id: ENST00000686033   ⟹   ENSP00000510693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 78,046,899 (+)Ensembl
Ensembl Acc Id: ENST00000686050   ⟹   ENSP00000510562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 77,972,229 (+)Ensembl
Ensembl Acc Id: ENST00000686133   ⟹   ENSP00000509233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,740 - 78,046,899 (+)Ensembl
Ensembl Acc Id: ENST00000686255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX78,010,472 - 78,050,395 (+)Ensembl
Ensembl Acc Id: ENST00000686416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 78,009,514 (+)Ensembl
Ensembl Acc Id: ENST00000686464   ⟹   ENSP00000510468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 77,973,149 (+)Ensembl
Ensembl Acc Id: ENST00000686480   ⟹   ENSP00000508978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 78,015,486 (+)Ensembl
Ensembl Acc Id: ENST00000686515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,717 - 78,012,255 (+)Ensembl
Ensembl Acc Id: ENST00000686543   ⟹   ENSP00000509477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 78,046,899 (+)Ensembl
Ensembl Acc Id: ENST00000686560   ⟹   ENSP00000509431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 77,975,946 (+)Ensembl
Ensembl Acc Id: ENST00000686688   ⟹   ENSP00000509416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 78,020,505 (+)Ensembl
Ensembl Acc Id: ENST00000686896   ⟹   ENSP00000509538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 77,975,949 (+)Ensembl
Ensembl Acc Id: ENST00000686999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,738 - 78,012,025 (+)Ensembl
Ensembl Acc Id: ENST00000687082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 77,989,097 (+)Ensembl
Ensembl Acc Id: ENST00000687086   ⟹   ENSP00000509566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,736 - 78,046,846 (+)Ensembl
Ensembl Acc Id: ENST00000687325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,746 - 77,989,097 (+)Ensembl
Ensembl Acc Id: ENST00000687416   ⟹   ENSP00000510310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,962,730 - 78,003,560 (+)Ensembl
Ensembl Acc Id: ENST00000687599   ⟹   ENSP00000508745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 77,990,246 (+)Ensembl
Ensembl Acc Id: ENST00000687628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,756 - 78,012,590 (+)Ensembl
Ensembl Acc Id: ENST00000687984   ⟹   ENSP00000510772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 77,990,454 (+)Ensembl
Ensembl Acc Id: ENST00000688165   ⟹   ENSP00000509828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,742 - 77,975,951 (+)Ensembl
Ensembl Acc Id: ENST00000688249   ⟹   ENSP00000510644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 78,003,550 (+)Ensembl
Ensembl Acc Id: ENST00000688338   ⟹   ENSP00000508672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,706 - 78,003,560 (+)Ensembl
Ensembl Acc Id: ENST00000688746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,705 - 78,014,437 (+)Ensembl
Ensembl Acc Id: ENST00000688889   ⟹   ENSP00000508610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 77,990,772 (+)Ensembl
Ensembl Acc Id: ENST00000689083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX78,044,052 - 78,049,502 (+)Ensembl
Ensembl Acc Id: ENST00000689514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX78,011,461 - 78,043,657 (+)Ensembl
Ensembl Acc Id: ENST00000689530   ⟹   ENSP00000509707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,738 - 78,021,079 (+)Ensembl
Ensembl Acc Id: ENST00000689541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,740 - 78,009,658 (+)Ensembl
Ensembl Acc Id: ENST00000689649   ⟹   ENSP00000509277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 78,015,405 (+)Ensembl
Ensembl Acc Id: ENST00000689731   ⟹   ENSP00000510791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 77,975,949 (+)Ensembl
Ensembl Acc Id: ENST00000689767   ⟹   ENSP00000509406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,753 - 78,050,395 (+)Ensembl
Ensembl Acc Id: ENST00000689872   ⟹   ENSP00000509373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,968,950 - 78,015,482 (+)Ensembl
Ensembl Acc Id: ENST00000689891   ⟹   ENSP00000508974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 77,990,817 (+)Ensembl
Ensembl Acc Id: ENST00000691152   ⟹   ENSP00000508843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 77,990,772 (+)Ensembl
Ensembl Acc Id: ENST00000691456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,758 - 77,999,925 (+)Ensembl
Ensembl Acc Id: ENST00000692110   ⟹   ENSP00000509366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,743 - 78,011,674 (+)Ensembl
Ensembl Acc Id: ENST00000692729   ⟹   ENSP00000509207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 77,975,951 (+)Ensembl
Ensembl Acc Id: ENST00000692908   ⟹   ENSP00000508627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 78,046,899 (+)Ensembl
Ensembl Acc Id: ENST00000693051   ⟹   ENSP00000510332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,690 - 78,003,560 (+)Ensembl
Ensembl Acc Id: ENST00000693167   ⟹   ENSP00000509601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 77,978,111 (+)Ensembl
Ensembl Acc Id: ENST00000693387   ⟹   ENSP00000508732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,739 - 78,009,345 (+)Ensembl
Ensembl Acc Id: ENST00000693398   ⟹   ENSP00000510089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX77,910,741 - 78,020,501 (+)Ensembl
RefSeq Acc Id: NM_000052   ⟹   NP_000043
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X77,910,693 - 78,050,395 (+)NCBI
GRCh37X77,166,194 - 77,305,892 (+)ENTREZGENE
Build 36X77,052,876 - 77,192,208 (+)NCBI Archive
HuRefX70,752,146 - 70,892,316 (+)NCBI
CHM1_1X77,058,841 - 77,198,586 (+)NCBI
T2T-CHM13v2.0X76,345,749 - 76,485,475 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282224   ⟹   NP_001269153
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X77,910,693 - 78,050,395 (+)NCBI
HuRefX70,752,146 - 70,892,316 (+)NCBI
CHM1_1X77,058,841 - 77,198,586 (+)NCBI
T2T-CHM13v2.0X76,345,749 - 76,485,475 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104109
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X77,910,693 - 78,050,395 (+)NCBI
HuRefX70,752,146 - 70,892,316 (+)NCBI
CHM1_1X77,058,841 - 77,198,586 (+)NCBI
T2T-CHM13v2.0X76,345,749 - 76,485,475 (+)NCBI
Sequence:
RefSeq Acc Id: NP_000043   ⟸   NM_000052
- Peptide Label: isoform 1
- UniProtKB: O00745 (UniProtKB/Swiss-Prot),   O00227 (UniProtKB/Swiss-Prot),   B1AT72 (UniProtKB/Swiss-Prot),   Q9BYY8 (UniProtKB/Swiss-Prot),   Q04656 (UniProtKB/Swiss-Prot),   A0A8J9FM07 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269153   ⟸   NM_001282224
- Peptide Label: isoform 2
- UniProtKB: A0A8J9FM07 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000495628   ⟸   ENST00000642651
Ensembl Acc Id: ENSP00000345728   ⟸   ENST00000341514
Ensembl Acc Id: ENSP00000493605   ⟸   ENST00000645094
Ensembl Acc Id: ENSP00000496603   ⟸   ENST00000645454
Ensembl Acc Id: ENSP00000343026   ⟸   ENST00000343533
Ensembl Acc Id: ENSP00000510005   ⟸   ENST00000685885
Ensembl Acc Id: ENSP00000510562   ⟸   ENST00000686050
Ensembl Acc Id: ENSP00000509406   ⟸   ENST00000689767
Ensembl Acc Id: ENSP00000508974   ⟸   ENST00000689891
Ensembl Acc Id: ENSP00000508672   ⟸   ENST00000688338
Ensembl Acc Id: ENSP00000509207   ⟸   ENST00000692729
Ensembl Acc Id: ENSP00000509233   ⟸   ENST00000686133
Ensembl Acc Id: ENSP00000509269   ⟸   ENST00000685033
Ensembl Acc Id: ENSP00000509431   ⟸   ENST00000686560
Ensembl Acc Id: ENSP00000510468   ⟸   ENST00000686464
Ensembl Acc Id: ENSP00000510693   ⟸   ENST00000686033
Ensembl Acc Id: ENSP00000509416   ⟸   ENST00000686688
Ensembl Acc Id: ENSP00000509707   ⟸   ENST00000689530
Ensembl Acc Id: ENSP00000509538   ⟸   ENST00000686896
Ensembl Acc Id: ENSP00000510772   ⟸   ENST00000687984
Ensembl Acc Id: ENSP00000509277   ⟸   ENST00000689649
Ensembl Acc Id: ENSP00000508610   ⟸   ENST00000688889
Ensembl Acc Id: ENSP00000508745   ⟸   ENST00000687599
Ensembl Acc Id: ENSP00000508732   ⟸   ENST00000693387
Ensembl Acc Id: ENSP00000508627   ⟸   ENST00000692908
Ensembl Acc Id: ENSP00000508843   ⟸   ENST00000691152
Ensembl Acc Id: ENSP00000509601   ⟸   ENST00000693167
Ensembl Acc Id: ENSP00000510644   ⟸   ENST00000688249
Ensembl Acc Id: ENSP00000510136   ⟸   ENST00000685264
Ensembl Acc Id: ENSP00000510791   ⟸   ENST00000689731
Ensembl Acc Id: ENSP00000509828   ⟸   ENST00000688165
Ensembl Acc Id: ENSP00000509477   ⟸   ENST00000686543
Ensembl Acc Id: ENSP00000509373   ⟸   ENST00000689872
Ensembl Acc Id: ENSP00000508978   ⟸   ENST00000686480
Ensembl Acc Id: ENSP00000510310   ⟸   ENST00000687416
Ensembl Acc Id: ENSP00000510089   ⟸   ENST00000693398
Ensembl Acc Id: ENSP00000510332   ⟸   ENST00000693051
Ensembl Acc Id: ENSP00000509566   ⟸   ENST00000687086
Ensembl Acc Id: ENSP00000509366   ⟸   ENST00000692110
Ensembl Acc Id: ENSP00000510429   ⟸   ENST00000684798
Protein Domains
HMA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q04656-F1-model_v2 AlphaFold Q04656 1-1500 view protein structure

Promoters
RGD ID:6808745
Promoter ID:HG_KWN:67331
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000343533,   ENST00000343912,   ENST00000350425,   NM_000052,   UC004ECV.2,   UC004ECW.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X77,052,561 - 77,053,061 (+)MPROMDB
RGD ID:13627504
Promoter ID:EPDNEW_H29027
Type:initiation region
Name:ATP7A_1
Description:ATPase copper transporting alpha
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
GRCh38X77,910,693 - 77,910,753EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:869 AgrOrtholog
COSMIC ATP7A COSMIC
Ensembl Genes ENSG00000165240 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000341514 ENTREZGENE
  ENST00000341514.11 UniProtKB/Swiss-Prot
  ENST00000685033 ENTREZGENE
  ENST00000685264.1 UniProtKB/Swiss-Prot
  ENST00000686133.1 UniProtKB/Swiss-Prot
  ENST00000686543 ENTREZGENE
  ENST00000686543.1 UniProtKB/Swiss-Prot
  ENST00000687086.1 UniProtKB/Swiss-Prot
  ENST00000692908.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.100 UniProtKB/Swiss-Prot
  3.40.1110.10 UniProtKB/Swiss-Prot
  3.40.50.1000 UniProtKB/Swiss-Prot
  Calcium-transporting ATPase, cytoplasmic transduction domain A UniProtKB/Swiss-Prot
GTEx ENSG00000165240 GTEx
HGNC ID HGNC:869 ENTREZGENE
Human Proteome Map ATP7A Human Proteome Map
InterPro ATPase_P-typ_cyto_dom_N UniProtKB/Swiss-Prot
  ATPase_P-typ_P_site UniProtKB/Swiss-Prot
  ATPase_P-typ_TM_dom_sf UniProtKB/Swiss-Prot
  ATPase_P-typ_transduc_dom_A_sf UniProtKB/Swiss-Prot
  HAD-like_sf UniProtKB/Swiss-Prot
  HAD_sf UniProtKB/Swiss-Prot
  Heavy-metal-associated_CS UniProtKB/Swiss-Prot
  HMA_Cu_ion-bd UniProtKB/Swiss-Prot
  HMA_dom UniProtKB/Swiss-Prot
  HMA_dom_sf UniProtKB/Swiss-Prot
  P-typ_ATPase_IB UniProtKB/Swiss-Prot
  P_typ_ATPase UniProtKB/Swiss-Prot
  P_typ_ATPase_HD_dom UniProtKB/Swiss-Prot
KEGG Report hsa:538 UniProtKB/Swiss-Prot
NCBI Gene 538 ENTREZGENE
OMIM 300011 OMIM
PANTHER P-TYPE CATION-TRANSPORTING ATPASE UniProtKB/Swiss-Prot
  P-TYPE CATION-TRANSPORTING ATPASE UniProtKB/Swiss-Prot
Pfam E1-E2_ATPase UniProtKB/Swiss-Prot
  HMA UniProtKB/Swiss-Prot
  Hydrolase UniProtKB/Swiss-Prot
PharmGKB ATP7A RGD, PharmGKB
PRINTS CATATPASE UniProtKB/Swiss-Prot
  CUATPASEI UniProtKB/Swiss-Prot
PROSITE ATPASE_E1_E2 UniProtKB/Swiss-Prot
  HMA_1 UniProtKB/Swiss-Prot
  HMA_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF55008 UniProtKB/Swiss-Prot
  SSF56784 UniProtKB/Swiss-Prot
  SSF81653 UniProtKB/Swiss-Prot
  SSF81660 UniProtKB/Swiss-Prot
  SSF81665 UniProtKB/Swiss-Prot
UniProt A0A2R8YD60_HUMAN UniProtKB/TrEMBL
  A0A8I5KPN6_HUMAN UniProtKB/TrEMBL
  A0A8I5KQ07_HUMAN UniProtKB/TrEMBL
  A0A8I5KQ62_HUMAN UniProtKB/TrEMBL
  A0A8I5KR00_HUMAN UniProtKB/TrEMBL
  A0A8I5KST1_HUMAN UniProtKB/TrEMBL
  A0A8I5KU46_HUMAN UniProtKB/TrEMBL
  A0A8I5KVB6_HUMAN UniProtKB/TrEMBL
  A0A8I5KVT9_HUMAN UniProtKB/TrEMBL
  A0A8I5KWA8_HUMAN UniProtKB/TrEMBL
  A0A8I5KWH1_HUMAN UniProtKB/TrEMBL
  A0A8I5KXV0_HUMAN UniProtKB/TrEMBL
  A0A8I5KY05_HUMAN UniProtKB/TrEMBL
  A0A8I5KZ63_HUMAN UniProtKB/TrEMBL
  A0A8I5QJP0_HUMAN UniProtKB/TrEMBL
  A0A8I5QKR3_HUMAN UniProtKB/TrEMBL
  A0A8J9FM07 ENTREZGENE, UniProtKB/TrEMBL
  ATP7A_HUMAN UniProtKB/Swiss-Prot
  B1AT72 ENTREZGENE
  B4DRW0_HUMAN UniProtKB/TrEMBL
  O00227 ENTREZGENE
  O00745 ENTREZGENE
  Q04656 ENTREZGENE
  Q762B6_HUMAN UniProtKB/TrEMBL
  Q9BYY8 ENTREZGENE
UniProt Secondary B1AT72 UniProtKB/Swiss-Prot
  O00227 UniProtKB/Swiss-Prot
  O00745 UniProtKB/Swiss-Prot
  Q9BYY8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 ATP7A  ATPase copper transporting alpha    ATPase, Cu++ transporting, alpha polypeptide  Symbol and/or name change 5135510 APPROVED