PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha) - Rat Genome Database

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Gene: PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha) Homo sapiens
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Symbol: PRKAR1A
Name: protein kinase cAMP-dependent type I regulatory subunit alpha
RGD ID: 735732
HGNC Page HGNC:9388
Description: Enables cAMP-dependent protein kinase inhibitor activity; enzyme binding activity; and protein domain specific binding activity. Involved in negative regulation of activated T cell proliferation and negative regulation of cAMP/PKA signal transduction. Located in axoneme; immunological synapse; and plasma membrane raft. Part of nucleotide-activated protein kinase complex. Implicated in Carney complex; acrodysostosis; and primary pigmented nodular adrenocortical disease 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACRDYS1; ADOHR; cAMP-dependent protein kinase regulatory subunit RIalpha; cAMP-dependent protein kinase type I-alpha regulatory chain; cAMP-dependent protein kinase type I-alpha regulatory subunit; CAR; Carney complex type 1; CNC; CNC1; DKFZp779L0468; MGC17251; PKR1; PPNAD1; PRKAR1; Prkar1alpha; protein kinase A type 1a regulatory subunit; protein kinase, camp dependent regulatory, type i, alpha; protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1); tissue specific extinguisher 1; tissue-specific extinguisher 1; TSE1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PRKAR1AP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381768,413,623 - 68,551,316 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1768,511,780 - 68,551,319 (+)Ensemblhg38GRCh38
GRCh371766,409,764 - 66,547,457 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361764,019,705 - 64,040,506 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341764,020,137 - 64,040,503NCBI
Celera1763,079,899 - 63,100,701 (+)NCBICelera
Cytogenetic Map17q24.2NCBI
HuRef1761,893,655 - 61,933,191 (+)NCBIHuRef
CHM1_11766,572,677 - 66,612,184 (+)NCBICHM1_1
T2T-CHM13v2.01769,290,146 - 69,428,169 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-nitropyrene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
3',5'-cyclic AMP  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acrolein  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
amitrole  (ISO)
antimycin A  (EXP)
antirheumatic drug  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
azoxystrobin  (EXP)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP,ISO)
carbon nanotube  (ISO)
cisplatin  (EXP)
colforsin daropate hydrochloride  (EXP)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
coumarin  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
D-gluconic acid  (ISO)
deguelin  (EXP)
deoxycholic acid  (ISO)
deoxynivalenol  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
fenpyroximate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
glyphosate  (ISO)
hydrogen peroxide  (EXP)
inulin  (ISO)
lead diacetate  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methylparaben  (EXP)
Mitotane  (EXP)
nefazodone  (ISO)
nimesulide  (ISO)
Nutlin-3  (EXP)
ochratoxin A  (EXP)
ozone  (EXP,ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
procymidone  (ISO)
propiconazole  (ISO)
quinoline  (EXP)
resveratrol  (ISO)
rotenone  (EXP,ISO)
SB 431542  (EXP)
sodium arsenite  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tebufenpyrad  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone enanthate  (ISO)
tetrachloromethane  (ISO)
tetrahydropalmatine  (EXP)
titanium dioxide  (ISO)
Tributyltin oxide  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
tunicamycin  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
apoptotic cell death pathway  (IEA)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
carvedilol pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
ibutilide pharmacodynamics pathway   (EXP)
insulin signaling pathway  (IEA)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway   (EXP)
protein kinase A (PKA) signaling pathway  (TAS)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal obesity  (IAGP)
Abdominal pain  (IAGP)
Abnormal bleeding  (IAGP)
Abnormal circulating dehydroepiandrosterone concentration  (IAGP)
Abnormal diaphysis morphology  (IAGP)
Abnormal female external genitalia morphology  (IAGP)
Abnormal femur morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal hard palate morphology  (IAGP)
Abnormal metacarpal morphology  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormal morphology of female internal genitalia  (IAGP)
Abnormal morphology of the radius  (IAGP)
Abnormal morphology of ulna  (IAGP)
Abnormal nail morphology  (IAGP)
Abnormal sperm motility  (IAGP)
Abnormality of immune system physiology  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of reproductive system physiology  (IAGP)
Abnormality of urine homeostasis  (IAGP)
Accelerated skeletal maturation  (IAGP)
Acral overgrowth  (IAGP)
Addictive alcohol use  (IAGP)
Adrenocortical carcinoma  (IAGP)
Adrenocorticotropic hormone deficiency  (IAGP)
Agitation  (IAGP)
Anemia  (IAGP)
Anorexia  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Ascites  (IAGP)
Atypical behavior  (IAGP)
Atypical nevi in non-sun exposed areas  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bacterial endocarditis  (IAGP)
Blue irides  (IAGP)
Blue nevus  (IAGP)
Bone marrow hypercellularity  (IAGP)
Bone pain  (IAGP)
Bowing of the long bones  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Broad nasal tip  (IAGP)
Broad palm  (IAGP)
Bruising susceptibility  (IAGP)
Calvarial hyperostosis  (IAGP)
Cardiac myxoma  (IAGP)
Cardiomegaly  (IAGP)
Chest pain  (IAGP)
Cholestasis  (IAGP)
Chronic infection  (IAGP)
Cone-shaped epiphyses of the phalanges of the hand  (IAGP)
Cone-shaped epiphysis  (IAGP)
Cone-shaped metacarpal epiphyses  (IAGP)
Congenital hypothyroidism  (IAGP)
Congestive heart failure  (IAGP)
Coxa valga  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous myxoma  (IAGP)
Decreased circulating ACTH concentration  (IAGP)
Decreased circulating dehydroepiandrosterone concentration  (IAGP)
Decreased fertility in males  (IAGP)
Decreased growth hormone responses to growth hormone-releasing hormone challenge  (IAGP)
Decreased total leukocyte count  (IAGP)
Decreased total neutrophil count  (IAGP)
Delayed eruption of teeth  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Depression  (IAGP)
Diabetes mellitus  (IAGP)
Diffuse alveolar hemorrhage  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Dislocated radial head  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Disseminated intravascular coagulation  (IAGP)
Dorsocervical fat pad  (IAGP)
Ductal carcinoma in situ  (IAGP)
Easy fatigability  (IAGP)
Ecchymosis  (IAGP)
Elevated circulating calcitonin concentration  (IAGP)
Elevated circulating growth hormone concentration  (IAGP)
Elevated circulating parathyroid hormone level  (IAGP)
Elevated circulating thyroid-stimulating hormone concentration  (IAGP)
Elevated serum 11-deoxycortisol  (IAGP)
Emotional lability  (IAGP)
Enchondroma  (IAGP)
Epicanthus  (IAGP)
Epiphyseal stippling  (IAGP)
Epistaxis  (IAGP)
Esophageal neoplasm  (IAGP)
Euthyroid multinodular goiter  (IAGP)
Exertional dyspnea  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Fibroadenoma of the breast  (IAGP)
Flat face  (IAGP)
Follicular thyroid carcinoma  (IAGP)
Freckling  (IAGP)
Frontal bossing  (IAGP)
Gangrene  (IAGP)
Genu varum  (IAGP)
Gingival bleeding  (IAGP)
Gingival overgrowth  (IAGP)
Gonadal neoplasm  (IAGP)
Growth abnormality  (IAGP)
Gynecomastia  (IAGP)
Hearing impairment  (IAGP)
Heart murmur  (IAGP)
Hematuria  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hirsutism  (IAGP)
Hydrocephalus  (IAGP)
Hyperhidrosis  (IAGP)
Hyperphosphatemia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertrichosis  (IAGP)
Hypodontia  (IAGP)
Hypofibrinogenemia  (IAGP)
Hypogonadism  (IAGP)
Hypokalemia  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypoplastic vertebral bodies  (IAGP)
Increased body weight  (IAGP)
Increased circulating aldosterone concentration  (IAGP)
Increased circulating androgen concentration  (IAGP)
Increased circulating androstenedione concentration  (IAGP)
Increased circulating cortisol level  (IAGP)
Increased circulating insulin-like growth factor 1 concentration  (IAGP)
Increased circulating prolactin concentration  (IAGP)
Increased serum estradiol  (IAGP)
Increased serum testosterone level  (IAGP)
Increased total leukocyte count  (IAGP)
Increased urinary cortisol level  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular menstruation  (IAGP)
Irritability  (IAGP)
Jaundice  (IAGP)
Joint dislocation  (IAGP)
Juvenile onset  (IAGP)
Kyphosis  (IAGP)
Leydig cell neoplasia  (IAGP)
Long hallux  (IAGP)
Lung adenocarcinoma  (IAGP)
Lymphadenopathy  (IAGP)
Macroorchidism  (IAGP)
Mandibular prognathia  (IAGP)
Medulloblastoma  (IAGP)
Melanocytic nevus  (IAGP)
Mental deterioration  (IAGP)
Metrorrhagia  (IAGP)
Micromelia  (IAGP)
Midface retrusion  (IAGP)
Mild global developmental delay  (IAGP)
Mild postnatal growth retardation  (IAGP)
Moon facies  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Multiple lentigines  (IAGP)
Muscle weakness  (IAGP)
Myxoid subcutaneous tumors  (IAGP)
Narrow vertebral interpedicular distance  (IAGP)
Neonatal epiphyseal stippling  (IAGP)
Neoplasm of the breast  (IAGP)
Neoplasm of the pancreas  (IAGP)
Neoplasm of the pharynx  (IAGP)
Neoplasm of the rectum  (IAGP)
Neoplasm of the stomach  (IAGP)
Neural tube defect  (IAGP)
Nevus  (IAGP)
Nodular changes affecting the eyelids  (IAGP)
Oligozoospermia  (IAGP)
Open bite  (IAGP)
Open mouth  (IAGP)
Optic atrophy  (IAGP)
Oral cavity bleeding  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Ovarian carcinoma  (IAGP)
Ovarian cyst  (IAGP)
Ovarian dermoid cyst  (IAGP)
Ovarian serous cystadenoma  (IAGP)
Palatine myxoma  (IAGP)
Palpitations  (IAGP)
Pancytopenia  (IAGP)
Panic attack  (IAGP)
Papillary thyroid carcinoma  (IAGP)
Paradoxical increased cortisol secretion on dexamethasone suppression test  (IAGP)
Paranasal sinus neoplasm  (IAGP)
Pedal edema  (IAGP)
Peripheral neuropathy  (IAGP)
Petechiae  (IAGP)
Pheochromocytoma  (IAGP)
Pigmentation of the sclera  (IAGP)
Pigmented micronodular adrenocortical disease  (IAGP)
Pituitary adenoma  (IAGP)
Pituitary growth hormone cell adenoma  (IAGP)
Precocious puberty  (IAGP)
Primary hypercortisolism  (IAGP)
Productive cough  (IAGP)
Profuse pigmented skin lesions  (IAGP)
Prominent forehead  (IAGP)
Psychosis  (IAGP)
Pulmonic valve myxoma  (IAGP)
Purpura  (IAGP)
Red hair  (IAGP)
Round face  (IAGP)
Schwannoma  (IAGP)
Scoliosis  (IAGP)
Secondary amenorrhea  (IAGP)
Sertoli cell neoplasm  (IAGP)
Short metacarpal  (IAGP)
Short metatarsal  (IAGP)
Short nose  (IAGP)
Short palm  (IAGP)
Short phalanx of finger  (IAGP)
Short stature  (IAGP)
Short toe  (IAGP)
Small for gestational age  (IAGP)
Spinal canal stenosis  (IAGP)
Spotty hyperpigmentation  (IAGP)
Stomatitis  (IAGP)
Strabismus  (IAGP)
Striae distensae  (IAGP)
Stroke  (IAGP)
Tall stature  (IAGP)
Telecanthus  (IAGP)
Testicular adrenal rest tumor  (IAGP)
Testicular neoplasm  (IAGP)
Thin skin  (IAGP)
Thrombocytopenia  (IAGP)
Thromboembolism  (IAGP)
Thyroid carcinoma  (IAGP)
Thyroid follicular hyperplasia  (IAGP)
Tongue nodules  (IAGP)
Tricuspid regurgitation  (IAGP)
Truncal obesity  (IAGP)
Unilateral renal agenesis  (IAGP)
Vascular dilatation  (IAGP)
Vertigo  (IAGP)
Weight loss  (IAGP)
Wide nasal bridge  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. Groussin L, etal., J Clin Endocrinol Metab. 2002 Sep;87(9):4324-9.
3. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Kirschner LS, etal., Nat Genet. 2000 Sep;26(1):89-92.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Localized effects of cAMP mediated by distinct routes of protein kinase A. Tasken K and Aandahl EM, Physiol Rev. 2004 Jan;84(1):137-67.
Additional References at PubMed
PMID:1832337   PMID:1889088   PMID:1978848   PMID:2165385   PMID:2310396   PMID:2902627   PMID:3164313   PMID:3426618   PMID:3479018   PMID:6287816   PMID:6333425   PMID:7678053  
PMID:7688126   PMID:7946090   PMID:8407966   PMID:8609225   PMID:8619474   PMID:8698339   PMID:8977401   PMID:9050991   PMID:9065479   PMID:9110174   PMID:9151826   PMID:9278385  
PMID:9326583   PMID:9405392   PMID:9540970   PMID:9671211   PMID:9730685   PMID:9852104   PMID:10026146   PMID:10228048   PMID:10764601   PMID:10864471   PMID:10889203   PMID:10974026  
PMID:11115848   PMID:11256614   PMID:11414803   PMID:11834733   PMID:11839645   PMID:12119264   PMID:12119280   PMID:12203783   PMID:12424709   PMID:12471216   PMID:12475780   PMID:12475942  
PMID:12477932   PMID:12571360   PMID:12606363   PMID:12626323   PMID:12634056   PMID:12665801   PMID:12752185   PMID:12759461   PMID:12804576   PMID:12812976   PMID:12829237   PMID:12896975  
PMID:12972513   PMID:14500362   PMID:14702039   PMID:15096576   PMID:15231748   PMID:15299023   PMID:15331577   PMID:15345747   PMID:15371594   PMID:15489334   PMID:15604292   PMID:15629779  
PMID:15655353   PMID:15846072   PMID:15982496   PMID:16020889   PMID:16189514   PMID:16196087   PMID:16344560   PMID:16364241   PMID:16376338   PMID:16387847   PMID:16394127   PMID:16396496  
PMID:16407073   PMID:16491121   PMID:16582606   PMID:16728392   PMID:16728394   PMID:16728532   PMID:16963469   PMID:17036196   PMID:17047380   PMID:17079485   PMID:17081983   PMID:17168834  
PMID:17353931   PMID:17369818   PMID:17884635   PMID:17904549   PMID:17906691   PMID:17911601   PMID:18056771   PMID:18059235   PMID:18223213   PMID:18241045   PMID:18401830   PMID:18407462  
PMID:18413734   PMID:18445140   PMID:18451138   PMID:18647815   PMID:18760947   PMID:18799465   PMID:18836454   PMID:19060904   PMID:19293268   PMID:19322201   PMID:19372376   PMID:19429701  
PMID:19465483   PMID:19494712   PMID:19573263   PMID:19710015   PMID:19730683   PMID:19738044   PMID:19833579   PMID:19895210   PMID:19915019   PMID:19946888   PMID:19965660   PMID:20026299  
PMID:20048145   PMID:20190548   PMID:20195357   PMID:20301463   PMID:20358582   PMID:20379146   PMID:20392842   PMID:20402410   PMID:20507346   PMID:20562859   PMID:20564261   PMID:20639865  
PMID:20824711   PMID:20936779   PMID:20972266   PMID:21139048   PMID:21145461   PMID:21394209   PMID:21423175   PMID:21614075   PMID:21638026   PMID:21651393   PMID:21651489   PMID:21812984  
PMID:21873635   PMID:21890473   PMID:21900206   PMID:21900385   PMID:21906983   PMID:21963094   PMID:21988832   PMID:22020668   PMID:22053931   PMID:22112814   PMID:22205709   PMID:22259056  
PMID:22297707   PMID:22378744   PMID:22461635   PMID:22505724   PMID:22632512   PMID:22808067   PMID:22863883   PMID:22892599   PMID:22922884   PMID:22939629   PMID:22951902   PMID:23000965  
PMID:23015706   PMID:23043190   PMID:23184937   PMID:23197043   PMID:23349050   PMID:23402259   PMID:23414517   PMID:23425300   PMID:23443559   PMID:23455922   PMID:23602568   PMID:23667531  
PMID:23942052   PMID:24122441   PMID:24144965   PMID:24170103   PMID:24189052   PMID:24248186   PMID:24316401   PMID:24366813   PMID:24605759   PMID:24618615   PMID:24700472   PMID:24711643  
PMID:24755349   PMID:24778252   PMID:24816145   PMID:24855271   PMID:25015289   PMID:25097019   PMID:25147182   PMID:25268545   PMID:25336503   PMID:25393625   PMID:25477193   PMID:25576349  
PMID:25659891   PMID:25693804   PMID:25852190   PMID:25870248   PMID:25890363   PMID:25900982   PMID:26088133   PMID:26186194   PMID:26354069   PMID:26405036   PMID:26416542   PMID:26496610  
PMID:26619967   PMID:26673895   PMID:26763073   PMID:26788925   PMID:26797121   PMID:26972000   PMID:27107014   PMID:27173435   PMID:27377598   PMID:27606678   PMID:27699247   PMID:27928700  
PMID:27995993   PMID:28159925   PMID:28173069   PMID:28221775   PMID:28319085   PMID:28367443   PMID:28514442   PMID:28583991   PMID:28615245   PMID:28796000   PMID:28867659   PMID:28939058  
PMID:29229926   PMID:29318463   PMID:29499646   PMID:29568061   PMID:29764989   PMID:30209976   PMID:30259502   PMID:30274258   PMID:30442766   PMID:30699069   PMID:30773093   PMID:30884312  
PMID:30948266   PMID:31006538   PMID:31010829   PMID:31059266   PMID:31078543   PMID:31343991   PMID:31363049   PMID:31515488   PMID:31527615   PMID:31678420   PMID:31839598   PMID:31980649  
PMID:32212257   PMID:32296183   PMID:32302974   PMID:32531271   PMID:32638579   PMID:32683582   PMID:32694731   PMID:32707033   PMID:32738126   PMID:32846158   PMID:32918875   PMID:32994395  
PMID:33058759   PMID:33060197   PMID:33187986   PMID:33420948   PMID:33545068   PMID:33766124   PMID:33957083   PMID:33961781   PMID:34490727   PMID:34532875   PMID:34728620   PMID:34857952  
PMID:34889853   PMID:34941261   PMID:34944009   PMID:35063084   PMID:35235311   PMID:35256949   PMID:35271311   PMID:35319526   PMID:35384245   PMID:35446349   PMID:35503882   PMID:35509820  
PMID:35563538   PMID:35732416   PMID:35831314   PMID:35914814   PMID:35941108   PMID:35944360   PMID:36042349   PMID:36168628   PMID:36180527   PMID:36213268   PMID:36215168   PMID:36217030  
PMID:36470425   PMID:36543142   PMID:36736316   PMID:36950384   PMID:37167062   PMID:37314216   PMID:37536630   PMID:37827155   PMID:38113892   PMID:38270169   PMID:38310436   PMID:38334954  
PMID:38474121   PMID:38492686   PMID:39079530   PMID:40437099  


Genomics

Comparative Map Data
PRKAR1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381768,413,623 - 68,551,316 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1768,511,780 - 68,551,319 (+)Ensemblhg38GRCh38
GRCh371766,409,764 - 66,547,457 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361764,019,705 - 64,040,506 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341764,020,137 - 64,040,503NCBI
Celera1763,079,899 - 63,100,701 (+)NCBICelera
Cytogenetic Map17q24.2NCBI
HuRef1761,893,655 - 61,933,191 (+)NCBIHuRef
CHM1_11766,572,677 - 66,612,184 (+)NCBICHM1_1
T2T-CHM13v2.01769,290,146 - 69,428,169 (+)NCBIT2T-CHM13v2.0
Prkar1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911109,539,849 - 109,560,489 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11109,540,231 - 109,560,482 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm3811109,649,023 - 109,669,663 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11109,649,405 - 109,669,656 (+)Ensemblmm10GRCm38
MGSCv3711109,512,263 - 109,530,962 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv3611109,467,039 - 109,485,738 (+)NCBIMGSCv36mm8
Celera11121,389,458 - 121,408,159 (+)NCBICelera
Cytogenetic Map11E1NCBI
cM Map1172.33NCBI
Prkar1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81095,120,537 - 95,139,028 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1095,120,487 - 95,139,025 (+)EnsemblGRCr8
mRatBN7.21094,621,042 - 94,639,534 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1094,620,039 - 94,639,041 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1099,678,564 - 99,695,215 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01099,141,642 - 99,158,293 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01094,551,627 - 94,568,234 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01097,940,705 - 97,959,199 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1097,940,705 - 97,957,336 (+)Ensemblrn6Rnor6.0
Rnor_5.01097,655,261 - 97,671,804 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.410148,642,200 - 148,642,454 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1093,279,500 - 93,296,131 (+)NCBICelera
RGSC_v3.11099,121,411 - 99,121,777 (+)NCBI
Cytogenetic Map10q32.1NCBI
Prkar1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554784,241,283 - 4,263,087 (-)Ensembl
ChiLan1.0NW_0049554784,241,283 - 4,262,119 (-)NCBIChiLan1.0ChiLan1.0
PRKAR1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21984,540,117 - 84,579,940 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11789,361,347 - 89,382,523 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01762,448,718 - 62,488,493 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11767,838,484 - 67,859,610 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1767,838,484 - 67,877,943 (+)EnsemblpanPan2panpan1.1
PRKAR1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1915,180,940 - 15,203,035 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl915,181,393 - 15,200,683 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha916,073,435 - 16,095,493 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0916,843,167 - 16,864,963 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl916,843,199 - 16,864,958 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1915,788,124 - 15,809,877 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0911,723,365 - 11,745,163 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0911,723,316 - 11,745,376 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Prkar1a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560211,330,929 - 11,348,727 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365417,845,676 - 7,863,709 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365417,845,876 - 7,863,677 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRKAR1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1211,662,347 - 11,681,373 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11211,662,344 - 11,681,490 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21212,130,798 - 12,147,739 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap12p14NCBI
PRKAR1A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11653,021,666 - 53,042,594 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1653,023,963 - 53,042,493 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366607723,949,350 - 23,970,349 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prkar1a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248703,552,745 - 3,574,880 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248703,552,608 - 3,575,461 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in PRKAR1A
1386 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002734.5(PRKAR1A):c.778G>C (p.Asp260His) single nucleotide variant Carney complex, type 1 [RCV000542202]|Hereditary cancer-predisposing syndrome [RCV002413567] Chr17:68528878 [GRCh38]
Chr17:66525019 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.477C>T (p.Ile159=) single nucleotide variant Carney complex, type 1 [RCV000546400]|Hereditary cancer-predisposing syndrome [RCV001023030]|not provided [RCV004767369]|not specified [RCV000590096] Chr17:68524052 [GRCh38]
Chr17:66520193 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.596G>A (p.Ser199Asn) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV003459245]|Carney complex, type 1 [RCV000528487]|Hereditary cancer-predisposing syndrome [RCV001024732]|PRKAR1A-related disorder [RCV003419970]|not provided [RCV002223869] Chr17:68525800 [GRCh38]
Chr17:66521941 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.441-4del deletion Hereditary cancer-predisposing syndrome [RCV000568462] Chr17:68524012 [GRCh38]
Chr17:66520153 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.695dup (p.Arg233fs) duplication not provided [RCV000519355] Chr17:68525898..68525899 [GRCh38]
Chr17:66522039..66522040 [GRCh37]
Chr17:17q24.2		 pathogenic|likely pathogenic
PRKAR1A, 1-BP DEL, 710G deletion Carney complex, type 1 [RCV000013502] Chr17:17q23-q24 pathogenic
NM_002734.5(PRKAR1A):c.761_762del (p.Ser254fs) microsatellite Carney complex, type 1 [RCV000013503]|Hereditary cancer-predisposing syndrome [RCV003298031] Chr17:68527889..68527890 [GRCh38]
Chr17:66524030..66524031 [GRCh37]
Chr17:17q24.2		 pathogenic
PRKAR1A, 2-BP DEL, 576TG deletion Carney complex, type 1 [RCV000013504] Chr17:17q23-q24 pathogenic
NM_002734.5(PRKAR1A):c.-7+1G>A single nucleotide variant Carney complex, type 1 [RCV001851827]|Pigmented nodular adrenocortical disease, primary, 1 [RCV000013506] Chr17:68512549 [GRCh38]
Chr17:66508690 [GRCh37]
Chr17:17q24.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
PRKAR1A, 16-BP DEL deletion Pigmented nodular adrenocortical disease, primary, 1 [RCV000013507] Chr17:17q23-q24 pathogenic
NM_002734.5(PRKAR1A):c.892-1G>A single nucleotide variant Adrenocortical tumor, somatic [RCV000013509] Chr17:68529919 [GRCh38]
Chr17:66526060 [GRCh37]
Chr17:17q24.2		 pathogenic|other
NM_002734.5(PRKAR1A):c.289C>T (p.Arg97Ter) single nucleotide variant Carney complex, type 1 [RCV000811724]|not provided [RCV000627206] Chr17:68522867 [GRCh38]
Chr17:66519008 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.891+269C>T single nucleotide variant not provided [RCV001544606] Chr17:68529260 [GRCh38]
Chr17:66525401 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.19G>A (p.Ala7Thr) single nucleotide variant Carney complex, type 1 [RCV000701277]|Hereditary cancer-predisposing syndrome [RCV000562330]|not provided [RCV001764689]|not specified [RCV002282240] Chr17:68515418 [GRCh38]
Chr17:66511559 [GRCh37]
Chr17:17q24.2		 benign|likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.1014A>C (p.Thr338=) single nucleotide variant Carney complex, type 1 [RCV001401032]|Hereditary cancer-predisposing syndrome [RCV002330917] Chr17:68530317 [GRCh38]
Chr17:66526458 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.630G>A (p.Pro210=) single nucleotide variant Carney complex, type 1 [RCV000548896]|Hereditary cancer-predisposing syndrome [RCV001025119] Chr17:68525834 [GRCh38]
Chr17:66521975 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.762T>C (p.Ser254=) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001126553]|Carney complex, type 1 [RCV000549253]|Hereditary cancer-predisposing syndrome [RCV001026644]|PRKAR1A-related disorder [RCV003935476]|not provided [RCV003424122] Chr17:68527893 [GRCh38]
Chr17:66524034 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.441-5T>C single nucleotide variant Carney complex, type 1 [RCV000543767]|Hereditary cancer-predisposing syndrome [RCV002330918] Chr17:68524011 [GRCh38]
Chr17:66520152 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.132G>A (p.Glu44=) single nucleotide variant Carney complex, type 1 [RCV000524936]|Hereditary cancer-predisposing syndrome [RCV001011073] Chr17:68515531 [GRCh38]
Chr17:66511672 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.18C>T (p.Thr6=) single nucleotide variant Carney complex, type 1 [RCV000539653]|Hereditary cancer-predisposing syndrome [RCV000567992]|PRKAR1A-related disorder [RCV003935475] Chr17:68515417 [GRCh38]
Chr17:66511558 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.502+1G>A single nucleotide variant Carney complex, type 1 [RCV000556523]|Hereditary cancer-predisposing syndrome [RCV002341383]|not provided [RCV003314614] Chr17:68524078 [GRCh38]
Chr17:66520219 [GRCh37]
Chr17:17q24.2		 pathogenic|likely pathogenic
NM_002734.5(PRKAR1A):c.1041C>T (p.Cys347=) single nucleotide variant Carney complex, type 1 [RCV000555722]|Hereditary cancer-predisposing syndrome [RCV000571717] Chr17:68530344 [GRCh38]
Chr17:66526485 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.891+6G>A single nucleotide variant Carney complex, type 1 [RCV000531275] Chr17:68528997 [GRCh38]
Chr17:66525138 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.973+4T>G single nucleotide variant Carney complex, type 1 [RCV000529352] Chr17:68530005 [GRCh38]
Chr17:66526146 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000022791]|Carney complex, type 1 [RCV001852002]|PRKAR1A-related disorder [RCV003398560]|Pigmented nodular adrenocortical disease, primary, 1 [RCV001824573]|not provided [RCV000760318] Chr17:68530405 [GRCh38]
Chr17:66526546 [GRCh37]
Chr17:17q24.2		 pathogenic|not provided
NM_002734.5(PRKAR1A):c.1117T>C (p.Tyr373His) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000022792]|Carney complex, type 1 [RCV002513177] Chr17:68530420 [GRCh38]
Chr17:66526561 [GRCh37]
Chr17:17q24.2		 pathogenic|uncertain significance
NM_002734.5(PRKAR1A):c.1004G>C (p.Arg335Pro) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000022793] Chr17:68530307 [GRCh38]
Chr17:66526448 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.980T>C (p.Ile327Thr) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000022794] Chr17:68530283 [GRCh38]
Chr17:66526424 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs) microsatellite Carney complex, type 1 [RCV000013498]|Hereditary cancer-predisposing syndrome [RCV002345241]|not provided [RCV000414608] Chr17:68524064..68524065 [GRCh38]
Chr17:66520205..66520206 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.786_787delinsCT (p.Trp262_Glu263delinsCysTer) indel Carney complex, type 1 [RCV000013499] Chr17:68528886..68528887 [GRCh38]
Chr17:66525027..66525028 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.891+3A>G single nucleotide variant Carney complex, type 1 [RCV000013500]|Hereditary cancer-predisposing syndrome [RCV004649063]|not provided [RCV001857341] Chr17:68528994 [GRCh38]
Chr17:66525135 [GRCh37]
Chr17:17q24.2		 pathogenic|likely pathogenic
NM_002734.5(PRKAR1A):c.618_621del (p.Ile206fs) deletion Familial atrial myxoma [RCV000013501] Chr17:68525820..68525823 [GRCh38]
Chr17:66521961..66521964 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.1A>G (p.Met1Val) single nucleotide variant Carney complex, type 1 [RCV000013505]|not provided [RCV000523178] Chr17:68515400 [GRCh38]
Chr17:66511541 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.708+1G>T single nucleotide variant Carney complex, type 1 [RCV000013508] Chr17:68525913 [GRCh38]
Chr17:66522054 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV003466855]|Carney complex [RCV000148738]|Carney complex, type 1 [RCV000013510]|Hereditary cancer-predisposing syndrome [RCV001014797]|PRKAR1A-related disorder [RCV003407324]|not provided [RCV003320547] Chr17:68522798 [GRCh38]
Chr17:66518939 [GRCh37]
Chr17:17q24.2		 pathogenic|uncertain significance
NM_002734.5(PRKAR1A):c.709-7_709-2del microsatellite CARNEY COMPLEX, TYPE I [RCV003882731]|Carney complex, type 1 [RCV001387938]|Carney complex, type 1 [RCV002496345]|Pigmented nodular adrenocortical disease, primary, 1 [RCV000013511] Chr17:68527824..68527829 [GRCh38]
Chr17:66523965..66523970 [GRCh37]
Chr17:17q24.2		 pathogenic|likely pathogenic
NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000283920]|Carney complex, type 1 [RCV000466868]|Carney complex, type 1 [RCV002504860]|Familial atrial myxoma [RCV003315542]|Hereditary cancer-predisposing syndrome [RCV000561785]|not provided [RCV001709476]|not specified [RCV001818208] Chr17:68522782 [GRCh38]
Chr17:66518923 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.4(PRKAR1A):c.318G>C (p.Thr106=) single nucleotide variant Carney complex, type 1 [RCV000033944] Chr17:68522896 [GRCh38]
Chr17:66519037 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.349-5dup duplication Acrodysostosis 1 with or without hormone resistance [RCV001789000]|Acrodysostosis [RCV000391534]|Carney complex [RCV000295961]|Carney complex, type 1 [RCV001521654]|Hereditary cancer-predisposing syndrome [RCV000566192]|not provided [RCV001659926]|not specified [RCV000242998] Chr17:68523716..68523717 [GRCh38]
Chr17:66519857..66519858 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=) single nucleotide variant Acrodysostosis [RCV000315884]|Carney complex [RCV000354275]|Carney complex, type 1 [RCV000229742]|Familial atrial myxoma [RCV003315543]|Hereditary cancer-predisposing syndrome [RCV000568769]|not provided [RCV001711145]|not specified [RCV000247351] Chr17:68515486 [GRCh38]
Chr17:66511627 [GRCh37]
Chr17:17q24.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002734.5(PRKAR1A):c.892-34G>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001789519]|Carney complex, type 1 [RCV001789518]|not provided [RCV001685676] Chr17:68529886 [GRCh38]
Chr17:66526027 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.974-102A>T single nucleotide variant not provided [RCV001609656] Chr17:68530175 [GRCh38]
Chr17:66526316 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.101_105del (p.Ser34fs) deletion Carney complex, type 1 [RCV000034282] Chr17:68515497..68515501 [GRCh38]
Chr17:66511638..66511642 [GRCh37]
Chr17:17q24.2		 pathogenic|not provided
NM_002734.5(PRKAR1A):c.109C>T (p.Gln37Ter) single nucleotide variant Carney complex, type 1 [RCV000034283] Chr17:68515508 [GRCh38]
Chr17:66511649 [GRCh37]
Chr17:17q24.2		 pathogenic|not provided
NM_002734.5(PRKAR1A):c.124C>T (p.Arg42Ter) single nucleotide variant Carney complex, type 1 [RCV000034284]|not provided [RCV001007963] Chr17:68515523 [GRCh38]
Chr17:66511664 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.139del (p.Met47fs) deletion Carney complex, type 1 [RCV000034285] Chr17:68515538 [GRCh38]
Chr17:66511679 [GRCh37]
Chr17:17q24.2		 pathogenic|not provided
NM_002734.5(PRKAR1A):c.178-2A>G single nucleotide variant Carney complex, type 1 [RCV000034286] Chr17:68522754 [GRCh38]
Chr17:66518895 [GRCh37]
Chr17:17q24.2		 pathogenic|not provided
NM_212472.2(PRKAR1A):c.178_348del (p.Glu60_Lys116del) deletion Carney complex, type 1 [RCV000034287]   pathogenic
NM_002734.5(PRKAR1A):c.286C>T (p.Arg96Ter) single nucleotide variant Carney complex, type 1 [RCV000034288] Chr17:68522864 [GRCh38]
Chr17:66519005 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.348+1G>C single nucleotide variant Carney complex, type 1 [RCV005201288] Chr17:68522927 [GRCh38]
Chr17:66519068 [GRCh37]
Chr17:17q24.2		 pathogenic|likely pathogenic|not provided
NM_002734.5(PRKAR1A):c.550-8_550-1del deletion Carney complex, type 1 [RCV005360187] Chr17:68525745..68525752 [GRCh38]
Chr17:66521886..66521893 [GRCh37]
Chr17:17q24.2		 pathogenic|likely pathogenic|not provided
NM_002734.5(PRKAR1A):c.566_567delinsCAC (p.Glu189fs) indel Carney complex, type 1 [RCV005194771] Chr17:68525770..68525771 [GRCh38]
Chr17:66521911..66521912 [GRCh37]
Chr17:17q24.2		 pathogenic|not provided
NM_002734.5(PRKAR1A):c.638C>A (p.Ala213Asp) single nucleotide variant Carney complex, type 1 [RCV000034292] Chr17:68525842 [GRCh38]
Chr17:66521983 [GRCh37]
Chr17:17q24.2		 pathogenic|not provided
NM_002734.5(PRKAR1A):c.682C>T (p.Arg228Ter) single nucleotide variant Carney complex [RCV001269128]|Carney complex, type 1 [RCV000034293]|not provided [RCV000627207] Chr17:68525886 [GRCh38]
Chr17:66522027 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.711_712dup (p.Ser238fs) duplication Carney complex, type 1 [RCV000034295] Chr17:68527841..68527842 [GRCh38]
Chr17:66523982..66523983 [GRCh37]
Chr17:17q24.2		 pathogenic|not provided
NM_002734.5(PRKAR1A):c.82C>T (p.Gln28Ter) single nucleotide variant Carney complex, type 1 [RCV000034296] Chr17:68515481 [GRCh38]
Chr17:66511622 [GRCh37]
Chr17:17q24.2		 pathogenic|not provided
NM_002734.5(PRKAR1A):c.846_847insA (p.Val283fs) insertion Carney complex, type 1 [RCV000034297] Chr17:68528946..68528947 [GRCh38]
Chr17:66525087..66525088 [GRCh37]
Chr17:17q24.2		 pathogenic|not provided
NM_002734.5(PRKAR1A):c.85_95del (p.Ala29fs) deletion Carney complex, type 1 [RCV000034298] Chr17:68515480..68515490 [GRCh38]
Chr17:66511621..66511631 [GRCh37]
Chr17:17q24.2		 pathogenic|not provided
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1 copy number loss See cases [RCV000053452] Chr17:67833866..70085854 [GRCh38]
Chr17:65829982..68081995 [GRCh37]
Chr17:63260444..65593590 [NCBI36]
Chr17:17q24.2-24.3		 pathogenic
NM_002734.4(PRKAR1A):c.253C>T (p.Pro85Ser) single nucleotide variant Malignant melanoma [RCV000071629] Chr17:68522831 [GRCh38]
Chr17:66518972 [GRCh37]
Chr17:64030567 [NCBI36]
Chr17:17q24.2		 not provided
NM_002734.5(PRKAR1A):c.254C>T (p.Pro85Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516147] Chr17:68522832 [GRCh38]
Chr17:66518973 [GRCh37]
Chr17:64030568 [NCBI36]
Chr17:17q24.2		 uncertain significance|not provided
NM_002734.4(PRKAR1A):c.344G>A (p.Arg115Lys) single nucleotide variant Malignant melanoma [RCV000071631] Chr17:68522922 [GRCh38]
Chr17:66519063 [GRCh37]
Chr17:64030658 [NCBI36]
Chr17:17q24.2		 not provided
NM_002734.5(PRKAR1A):c.693dup (p.Arg232Ter) duplication Carney complex, type 1 [RCV000034294] Chr17:68525896..68525897 [GRCh38]
Chr17:66522037..66522038 [GRCh37]
Chr17:17q24.2		 pathogenic|not provided
NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter) single nucleotide variant Amelogenesis imperfecta type 1G [RCV000029154] Chr17:68542796 [GRCh38]
Chr17:66538937 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.530T>C (p.Ile177Thr) single nucleotide variant Carney complex, type 1 [RCV001239354]|Hereditary cancer-predisposing syndrome [RCV003298142]|not provided [RCV002223789]|not specified [RCV000121881] Chr17:68524939 [GRCh38]
Chr17:66521080 [GRCh37]
Chr17:17q24.2		 uncertain significance|not provided
NM_017565.4(FAM20A):c.720-2A>G single nucleotide variant Amelogenesis imperfecta type 1G [RCV000128612] Chr17:68543723 [GRCh38]
Chr17:66539864 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_017565.4(FAM20A):c.1432C>T (p.Arg478Ter) single nucleotide variant Amelogenesis imperfecta type 1G [RCV000128613] Chr17:68537671 [GRCh38]
Chr17:66533812 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_017565.4(FAM20A):c.813-2A>G single nucleotide variant Amelogenesis imperfecta type 1G [RCV000029151] Chr17:68542811 [GRCh38]
Chr17:66538952 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_017565.4(FAM20A):c.1175_1179del (p.Arg392fs) deletion Amelogenesis imperfecta type 1G [RCV000029152] Chr17:68540889..68540893 [GRCh38]
Chr17:66537030..66537034 [GRCh37]
Chr17:17q24.2		 pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh38/hg38 17q24.2(chr17:67584224-68639875)x1 copy number loss See cases [RCV000138379] Chr17:67584224..68639875 [GRCh38]
Chr17:65580340..66636016 [GRCh37]
Chr17:63010802..64147611 [NCBI36]
Chr17:17q24.2		 pathogenic
GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1 copy number loss See cases [RCV000143113] Chr17:68420514..71351235 [GRCh38]
Chr17:66416655..69347376 [GRCh37]
Chr17:63928250..66858971 [NCBI36]
Chr17:17q24.2-24.3		 pathogenic
NM_002734.5(PRKAR1A):c.623del (p.Gly208fs) deletion Carney complex [RCV000151681]|Carney complex, type 1 [RCV001382880]|not provided [RCV000317950] Chr17:68525826 [GRCh38]
Chr17:66521967 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_001278433.1(PRKAR1A):c.-6-30345G>A single nucleotide variant Lung cancer [RCV000100613] Chr17:68485049 [GRCh38]
Chr17:66481190 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.177+3A>G single nucleotide variant Carney complex, type 1 [RCV000192091]|Hereditary cancer-predisposing syndrome [RCV002408733]|not provided [RCV001568442] Chr17:68515579 [GRCh38]
Chr17:66511720 [GRCh37]
Chr17:17q24.2		 pathogenic|likely pathogenic|uncertain significance|not provided
NC_000017.11:g.(?_68512379)_(68533431_?)del deletion Carney complex, type 1 [RCV000192092] Chr17:68512379..68533431 [GRCh38]
Chr17:17q24.2		 pathogenic
NC_000017.11:g.(?_68512379)_(68512548_?)del deletion Carney complex, type 1 [RCV000192093] Chr17:68512379..68512548 [GRCh38]
Chr17:17q24.2		 pathogenic
NC_000017.11:g.(?_68515394)_(68515576_?)del deletion Carney complex, type 1 [RCV000192094] Chr17:68515394..68515576 [GRCh38]
Chr17:17q24.2		 pathogenic
NC_000017.11:g.(?_68528870)_(68530449_?)del deletion Carney complex, type 1 [RCV000192095] Chr17:68528870..68530449 [GRCh38]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.63C>T (p.Tyr21=) single nucleotide variant Carney complex, type 1 [RCV000527135]|Hereditary cancer-predisposing syndrome [RCV000571388]|PRKAR1A-related disorder [RCV003905412]|not specified [RCV003114669] Chr17:68515462 [GRCh38]
Chr17:66511603 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.591A>G (p.Gly197=) single nucleotide variant Carney complex, type 1 [RCV000549659]|Hereditary cancer-predisposing syndrome [RCV003159853] Chr17:68525795 [GRCh38]
Chr17:66521936 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.85G>T (p.Ala29Ser) single nucleotide variant Carney complex, type 1 [RCV000553000] Chr17:68515484 [GRCh38]
Chr17:66511625 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.94A>G (p.Lys32Glu) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV003459246]|Carney complex, type 1 [RCV000556130]|Hereditary cancer-predisposing syndrome [RCV002377115] Chr17:68515493 [GRCh38]
Chr17:66511634 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.912A>G (p.Gln304=) single nucleotide variant Carney complex, type 1 [RCV001055943]|Hereditary cancer-predisposing syndrome [RCV001018901] Chr17:68529940 [GRCh38]
Chr17:66526081 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.1029C>T (p.Gly343=) single nucleotide variant Carney complex, type 1 [RCV001083001]|Familial atrial myxoma [RCV003316257]|Hereditary cancer-predisposing syndrome [RCV000573447]|not provided [RCV000586200]|not specified [RCV000251184] Chr17:68530332 [GRCh38]
Chr17:66526473 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.546G>A (p.Thr182=) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000404114]|Carney complex, type 1 [RCV000229573]|Hereditary cancer-predisposing syndrome [RCV000573601]|not provided [RCV001697581]|not specified [RCV000610412] Chr17:68524955 [GRCh38]
Chr17:66521096 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.64G>T (p.Val22Phe) single nucleotide variant Carney complex, type 1 [RCV000232417]|Hereditary cancer-predisposing syndrome [RCV004658996] Chr17:68515463 [GRCh38]
Chr17:66511604 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.974-10C>T single nucleotide variant Carney complex, type 1 [RCV001082140]|not provided [RCV000590668] Chr17:68530267 [GRCh38]
Chr17:66526408 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.483A>G (p.Gly161=) single nucleotide variant Carney complex, type 1 [RCV000231751]|Hereditary cancer-predisposing syndrome [RCV001023133]|not specified [RCV002282077] Chr17:68524058 [GRCh38]
Chr17:66520199 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.489T>G (p.Thr163=) single nucleotide variant Carney complex, type 1 [RCV000226717]|Hereditary cancer-predisposing syndrome [RCV001023224]|not specified [RCV001264476] Chr17:68524064 [GRCh38]
Chr17:66520205 [GRCh37]
Chr17:17q24.2		 likely pathogenic|likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000384218]|Carney complex, type 1 [RCV000990054]|Hereditary cancer [RCV004701317]|Hereditary cancer-predisposing syndrome [RCV000561393]|PRKAR1A-related disorder [RCV003947769]|not specified [RCV000588205] Chr17:68522799 [GRCh38]
Chr17:66518940 [GRCh37]
Chr17:17q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002734.5(PRKAR1A):c.675C>A (p.Gly225=) single nucleotide variant Carney complex, type 1 [RCV000226328]|Hereditary cancer-predisposing syndrome [RCV001025617]|PRKAR1A-related disorder [RCV003947770]|not specified [RCV001818604] Chr17:68525879 [GRCh38]
Chr17:66522020 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.672G>A (p.Trp224Ter) single nucleotide variant Carney complex, type 1 [RCV005091206]|not provided [RCV000519219] Chr17:68525876 [GRCh38]
Chr17:66522017 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.330G>A (p.Ala110=) single nucleotide variant Carney complex, type 1 [RCV000554711]|Hereditary cancer-predisposing syndrome [RCV000568738]|not specified [RCV001193082] Chr17:68522908 [GRCh38]
Chr17:66519049 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_017565.4(FAM20A):c.996C>A (p.Asn332Lys) single nucleotide variant Amelogenesis imperfecta type 1G [RCV001702398]|not provided [RCV001512679]|not specified [RCV000246398] Chr17:68542098 [GRCh38]
Chr17:66538239 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.550-3T>C single nucleotide variant Carney complex, type 1 [RCV001858380]|Hereditary cancer-predisposing syndrome [RCV000565571] Chr17:68525751 [GRCh38]
Chr17:66521892 [GRCh37]
Chr17:17q24.2		 benign|uncertain significance
NM_002734.5(PRKAR1A):c.914G>A (p.Arg305His) single nucleotide variant Carney complex, type 1 [RCV000798740]|Carney complex, type 1 [RCV005018996]|Hereditary cancer-predisposing syndrome [RCV000564440]|not provided [RCV003235293] Chr17:68529942 [GRCh38]
Chr17:66526083 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1589T>C (p.Leu530Ser) single nucleotide variant Amelogenesis imperfecta type 1G [RCV001701971]|not provided [RCV001512678]|not specified [RCV000243426] Chr17:68537514 [GRCh38]
Chr17:66533655 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.678C>T (p.Ile226=) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000299630]|Carney complex, type 1 [RCV001082572]|Hereditary cancer-predisposing syndrome [RCV000566997]|not provided [RCV000589555] Chr17:68525882 [GRCh38]
Chr17:66522023 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.*1346A>G single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000264564]|Carney complex, type 1 [RCV000377845] Chr17:68531795 [GRCh38]
Chr17:66527936 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.*795G>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000274013]|Carney complex, type 1 [RCV000333861] Chr17:68531244 [GRCh38]
Chr17:66527385 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.*2072G>A single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000364353]|Carney complex, type 1 [RCV000269697] Chr17:68532521 [GRCh38]
Chr17:66528662 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*1244T>C single nucleotide variant Acrodysostosis [RCV000319592]|Carney complex [RCV000259768]|not provided [RCV004710823] Chr17:68531693 [GRCh38]
Chr17:66527834 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.*172_*175del deletion Acrodysostosis [RCV000325186]|Carney complex [RCV000270191] Chr17:68530618..68530621 [GRCh38]
Chr17:66526759..66526762 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-6-7C>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000368758]|Carney complex, type 1 [RCV000877412] Chr17:68515387 [GRCh38]
Chr17:66511528 [GRCh37]
Chr17:17q24.2		 benign|likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.*759C>T single nucleotide variant Acrodysostosis [RCV000368524]|Carney complex [RCV000309207]|not provided [RCV004703731] Chr17:68531208 [GRCh38]
Chr17:66527349 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-25C>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000369750]|Carney complex, type 1 [RCV000308115] Chr17:68512530 [GRCh38]
Chr17:66508671 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.*1212T>G single nucleotide variant Acrodysostosis [RCV000313762]|Carney complex [RCV000354618]|not provided [RCV004709737] Chr17:68531661 [GRCh38]
Chr17:66527802 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.103A>G (p.Ile35Val) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000323950]|Carney complex, type 1 [RCV000541002]|Hereditary cancer-predisposing syndrome [RCV001017120]|not provided [RCV004767230]|not specified [RCV001280560] Chr17:68515502 [GRCh38]
Chr17:66511643 [GRCh37]
Chr17:17q24.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002734.5(PRKAR1A):c.*893G>C single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000376199]|Carney complex, type 1 [RCV000286474]|not provided [RCV004694359] Chr17:68531342 [GRCh38]
Chr17:66527483 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.*2188C>G single nucleotide variant Acrodysostosis [RCV000329581]|Carney complex [RCV000384084]|not provided [RCV004709739] Chr17:68532637 [GRCh38]
Chr17:66528778 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.*1606A>G single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000289006]|Carney complex, type 1 [RCV000343960] Chr17:68532055 [GRCh38]
Chr17:66528196 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.*1777C>T single nucleotide variant Acrodysostosis [RCV000384475]|Carney complex [RCV000290107]|not provided [RCV004709738] Chr17:68532226 [GRCh38]
Chr17:66528367 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.738T>G (p.Tyr246Ter) single nucleotide variant Carney complex, type 1 [RCV001382881]|not provided [RCV000349156] Chr17:68527869 [GRCh38]
Chr17:66524010 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.*812A>C single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000388353]|Carney complex, type 1 [RCV000261349]|not provided [RCV003409513] Chr17:68531261 [GRCh38]
Chr17:66527402 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.*138C>A single nucleotide variant Acrodysostosis [RCV000406657]|Carney complex [RCV000298624]|not provided [RCV001582966] Chr17:68530587 [GRCh38]
Chr17:66526728 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-75G>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000406629]|Carney complex, type 1 [RCV000309631] Chr17:68512480 [GRCh38]
Chr17:66508621 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.*672T>C single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000337637]|Carney complex, type 1 [RCV000403950] Chr17:68531121 [GRCh38]
Chr17:66527262 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.360del (p.Asp121fs) deletion not provided [RCV000369351] Chr17:68523733 [GRCh38]
Chr17:66519874 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.374dup (p.Met125fs) duplication not provided [RCV000371626] Chr17:68523749..68523750 [GRCh38]
Chr17:66519890..66519891 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.*1168A>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000367092]|Carney complex, type 1 [RCV000277225] Chr17:68531617 [GRCh38]
Chr17:66527758 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*2018C>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000358473]|Carney complex, type 1 [RCV000303698] Chr17:68532467 [GRCh38]
Chr17:66528608 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.*2197G>A single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000295532]|Carney complex, type 1 [RCV000389450] Chr17:68532646 [GRCh38]
Chr17:66528787 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.*1837G>T single nucleotide variant Acrodysostosis [RCV000295909]|Carney complex [RCV000350781]|not provided [RCV004705365] Chr17:68532286 [GRCh38]
Chr17:66528427 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.*587dup duplication Acrodysostosis [RCV000295699]|Carney complex [RCV000350584] Chr17:68531025..68531026 [GRCh38]
Chr17:66527166..66527167 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.*587del deletion Acrodysostosis [RCV000391637]|Carney complex [RCV000278154] Chr17:68531026 [GRCh38]
Chr17:66527167 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*156C>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000359424]|Carney complex, type 1 [RCV000320998] Chr17:68530605 [GRCh38]
Chr17:66526746 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.*151A>G single nucleotide variant Acrodysostosis [RCV000360526]|Carney complex [RCV000268168]|not provided [RCV004705364] Chr17:68530600 [GRCh38]
Chr17:66526741 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.309G>A (p.Glu103=) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000345213]|Carney complex, type 1 [RCV000645615]|Hereditary cancer-predisposing syndrome [RCV000565004] Chr17:68522887 [GRCh38]
Chr17:66519028 [GRCh37]
Chr17:17q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002734.5(PRKAR1A):c.*847A>G single nucleotide variant Acrodysostosis [RCV000316519]|Carney complex [RCV000375757] Chr17:68531296 [GRCh38]
Chr17:66527437 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.*722A>G single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000403244]|Carney complex, type 1 [RCV000308546] Chr17:68531171 [GRCh38]
Chr17:66527312 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.*870G>A single nucleotide variant Acrodysostosis [RCV000340323]|Carney complex [RCV000280621]|not provided [RCV004709736] Chr17:68531319 [GRCh38]
Chr17:66527460 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.*724T>A single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000363141]|Carney complex, type 1 [RCV000273261] Chr17:68531173 [GRCh38]
Chr17:66527314 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*2067T>C single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000268339]|Carney complex, type 1 [RCV000323517] Chr17:68532516 [GRCh38]
Chr17:66528657 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*1062A>G single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000306304]|Carney complex, type 1 [RCV000347181] Chr17:68531511 [GRCh38]
Chr17:66527652 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV003469209]|Carney complex, type 1 [RCV000558438]|PRKAR1A-related disorder [RCV003409393]|not provided [RCV000265264] Chr17:68515445 [GRCh38]
Chr17:66511586 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.806A>G (p.Asp269Gly) single nucleotide variant Carney complex, type 1 [RCV005091000]|not provided [RCV000489158] Chr17:68528906 [GRCh38]
Chr17:66525047 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_017565.4(FAM20A):c.1261G>A (p.Gly421Arg) single nucleotide variant Inborn genetic diseases [RCV003212212] Chr17:68539925 [GRCh38]
Chr17:66536066 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.440+5G>A single nucleotide variant not provided [RCV000520030] Chr17:68523821 [GRCh38]
Chr17:66519962 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1294G>A (p.Ala432Thr) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002489195]|not provided [RCV000489649] Chr17:68539892 [GRCh38]
Chr17:66536033 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1171C>T (p.Gln391Ter) single nucleotide variant Amelogenesis imperfecta type 1G [RCV001781078] Chr17:68540897 [GRCh38]
Chr17:66537038 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.*704T>G single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000343299]|Carney complex, type 1 [RCV000302469] Chr17:68531153 [GRCh38]
Chr17:66527294 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*526G>A single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000330896]|Carney complex, type 1 [RCV000385471] Chr17:68530975 [GRCh38]
Chr17:66527116 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.769+3G>A single nucleotide variant Carney complex, type 1 [RCV000527474] Chr17:68527903 [GRCh38]
Chr17:66524044 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.-53C>T single nucleotide variant Acrodysostosis [RCV000347724]|Carney complex [RCV000390832] Chr17:68512502 [GRCh38]
Chr17:66508643 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1511C>T (p.Thr504Ile) single nucleotide variant Acrodysostosis [RCV000331981]|Carney complex [RCV000370244]|not provided [RCV000887096]|not specified [RCV003151051] Chr17:68537592 [GRCh38]
Chr17:66533733 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.*2196C>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000330202]|Carney complex, type 1 [RCV000293911] Chr17:68532645 [GRCh38]
Chr17:66528786 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*1835del deletion Acrodysostosis [RCV000349627]|Carney complex [RCV000407661] Chr17:68532282 [GRCh38]
Chr17:66528423 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.*1839G>A single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000405569]|Carney complex, type 1 [RCV000296874] Chr17:68532288 [GRCh38]
Chr17:66528429 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*1487C>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000379054]|Carney complex, type 1 [RCV000324407] Chr17:68531936 [GRCh38]
Chr17:66528077 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*1842A>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000356445]|Carney complex, type 1 [RCV000405821] Chr17:68532291 [GRCh38]
Chr17:66528432 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.-16C>A single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000396986]|Carney complex, type 1 [RCV000311693]|PRKAR1A-related disorder [RCV003922376] Chr17:68512539 [GRCh38]
Chr17:66508680 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.*1014A>G single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000406865]|Carney complex, type 1 [RCV000341287] Chr17:68531463 [GRCh38]
Chr17:66527604 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*1118dup duplication Acrodysostosis [RCV000312444]|Carney complex [RCV000403207] Chr17:68531560..68531561 [GRCh38]
Chr17:66527701..66527702 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*389T>G single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000290058]|Carney complex, type 1 [RCV000384408] Chr17:68530838 [GRCh38]
Chr17:66526979 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.549+6A>T single nucleotide variant Carney complex, type 1 [RCV001860130]|not provided [RCV000588585] Chr17:68524964 [GRCh38]
Chr17:66521105 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.647A>G (p.Lys216Arg) single nucleotide variant Carney complex, type 1 [RCV002530924]|Hereditary cancer-predisposing syndrome [RCV001025310]|not provided [RCV000588769] Chr17:68525851 [GRCh38]
Chr17:66521992 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.-6-4G>A single nucleotide variant Carney complex, type 1 [RCV001086871]|not provided [RCV000587231] Chr17:68515390 [GRCh38]
Chr17:66511531 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.289C>A (p.Arg97=) single nucleotide variant Carney complex, type 1 [RCV001401850]|Hereditary cancer-predisposing syndrome [RCV002438528]|not specified [RCV000589908] Chr17:68522867 [GRCh38]
Chr17:66519008 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.1134A>G (p.Ser378=) single nucleotide variant Carney complex, type 1 [RCV002061977]|Hereditary cancer-predisposing syndrome [RCV002325121]|not specified [RCV000590038] Chr17:68530437 [GRCh38]
Chr17:66526578 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.798G>A (p.Thr266=) single nucleotide variant Carney complex, type 1 [RCV001086506]|Hereditary cancer-predisposing syndrome [RCV001027024]|not provided [RCV000591297]|not specified [RCV001175416] Chr17:68528898 [GRCh38]
Chr17:66525039 [GRCh37]
Chr17:17q24.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002734.5(PRKAR1A):c.280A>C (p.Arg94=) single nucleotide variant Carney complex, type 1 [RCV000529815]|Hereditary cancer-predisposing syndrome [RCV001016651] Chr17:68522858 [GRCh38]
Chr17:66518999 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.567A>C (p.Glu189Asp) single nucleotide variant Carney complex, type 1 [RCV000534903]|Hereditary cancer-predisposing syndrome [RCV003159852]|not provided [RCV000587029] Chr17:68525771 [GRCh38]
Chr17:66521912 [GRCh37]
Chr17:17q24.2		 benign|likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.72G>A (p.Lys24=) single nucleotide variant Carney complex, type 1 [RCV001413907]|Hereditary cancer-predisposing syndrome [RCV000574962] Chr17:68515471 [GRCh38]
Chr17:66511612 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.951del (p.Arg317fs) deletion not provided [RCV000413468] Chr17:68529979 [GRCh38]
Chr17:66526120 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.329C>T (p.Ala110Val) single nucleotide variant Carney complex, type 1 [RCV000544572]|Hereditary cancer-predisposing syndrome [RCV001019777]|Medulloblastoma [RCV000505608]|not specified [RCV003403184] Chr17:68522907 [GRCh38]
Chr17:66519048 [GRCh37]
Chr17:17q24.2		 uncertain significance|other
NM_017565.4(FAM20A):c.871_891del (p.Glu291_Lys297del) deletion not provided [RCV000722806] Chr17:68542731..68542751 [GRCh38]
Chr17:66538872..66538892 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1122_1123del (p.Asn374fs) deletion not provided [RCV000414079] Chr17:68530424..68530425 [GRCh38]
Chr17:66526565..66526566 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.854A>G (p.Gln285Arg) single nucleotide variant Carney complex, type 1 [RCV001854100]|not provided [RCV000595124] Chr17:68528954 [GRCh38]
Chr17:66525095 [GRCh37]
Chr17:17q24.2		 likely pathogenic|uncertain significance
GRCh37/hg19 17q24.2-24.3(chr17:65343022-69344022)x3 copy number gain See cases [RCV000446484] Chr17:65343022..69344022 [GRCh37]
Chr17:17q24.2-24.3		 uncertain significance
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
NM_002734.5(PRKAR1A):c.-49G>T single nucleotide variant not specified [RCV000435092] Chr17:68512506 [GRCh38]
Chr17:66508647 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.440+15T>C single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001123899]|Carney complex, type 1 [RCV001126552]|Familial atrial myxoma [RCV003316527]|not provided [RCV004709969]|not specified [RCV000435357] Chr17:68523831 [GRCh38]
Chr17:66519972 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.535C>T (p.Gln179Ter) single nucleotide variant Carney complex [RCV000509168]|Carney complex, type 1 [RCV001222838]|not provided [RCV000429583] Chr17:68524944 [GRCh38]
Chr17:66521085 [GRCh37]
Chr17:17q24.2		 pathogenic|not provided
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
NM_002734.5(PRKAR1A):c.441-5T>G single nucleotide variant Carney complex, type 1 [RCV000473951]|Hereditary cancer-predisposing syndrome [RCV004022592]|not provided [RCV001770316] Chr17:68524011 [GRCh38]
Chr17:66520152 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.1042G>A (p.Val348Ile) single nucleotide variant Carney complex, type 1 [RCV000459182]|Hereditary cancer-predisposing syndrome [RCV001009783]|not provided [RCV002222511]|not specified [RCV004526677] Chr17:68530345 [GRCh38]
Chr17:66526486 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.213_247del (p.Gly72fs) deletion not provided [RCV000481239] Chr17:68522791..68522825 [GRCh38]
Chr17:66518932..66518966 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.709-6T>C single nucleotide variant Carney complex, type 1 [RCV000459445] Chr17:68527834 [GRCh38]
Chr17:66523975 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.798G>T (p.Thr266=) single nucleotide variant Carney complex, type 1 [RCV000470803]|Hereditary cancer-predisposing syndrome [RCV003298518] Chr17:68528898 [GRCh38]
Chr17:66525039 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.69_70dup (p.Lys24fs) duplication not provided [RCV000481932] Chr17:68515466..68515467 [GRCh38]
Chr17:66511607..66511608 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV003463870]|Carney complex, type 1 [RCV000459769]|Carney complex, type 1 [RCV002489020]|Hereditary cancer-predisposing syndrome [RCV002379427]|not provided [RCV003159123] Chr17:68530327 [GRCh38]
Chr17:66526468 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.489T>C (p.Thr163=) single nucleotide variant Carney complex, type 1 [RCV000456278]|Familial atrial myxoma [RCV003316584]|Hereditary cancer-predisposing syndrome [RCV000567376]|PRKAR1A-related disorder [RCV003970309]|not provided [RCV001721512]|not specified [RCV000601259] Chr17:68524064 [GRCh38]
Chr17:66520205 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.549+10A>C single nucleotide variant Carney complex, type 1 [RCV000475186]|Familial atrial myxoma [RCV003316586]|not specified [RCV000586852] Chr17:68524968 [GRCh38]
Chr17:66521109 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.189A>G (p.Lys63=) single nucleotide variant Carney complex, type 1 [RCV000460414]|Hereditary cancer-predisposing syndrome [RCV000563824]|PRKAR1A-related disorder [RCV004751548] Chr17:68522767 [GRCh38]
Chr17:66518908 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.385dup (p.Ala129fs) duplication not provided [RCV000483450] Chr17:68523760..68523761 [GRCh38]
Chr17:66519901..66519902 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.407_408del (p.Val136fs) microsatellite not provided [RCV000483496] Chr17:68523781..68523782 [GRCh38]
Chr17:66519922..66519923 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.381T>C (p.Ala127=) single nucleotide variant Carney complex, type 1 [RCV001084659]|Carney complex, type 1 [RCV002475903]|Hereditary cancer-predisposing syndrome [RCV000574210]|not provided [RCV000588396] Chr17:68523757 [GRCh38]
Chr17:66519898 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.770-9G>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001126554]|Carney complex, type 1 [RCV000464699]|Familial atrial myxoma [RCV003316585]|PRKAR1A-related disorder [RCV004751549]|not specified [RCV000781765] Chr17:68528861 [GRCh38]
Chr17:66525002 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.156A>G (p.Glu52=) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001122811]|Carney complex, type 1 [RCV000472079]|Familial atrial myxoma [RCV003316583]|Hereditary cancer-predisposing syndrome [RCV000564592] Chr17:68515555 [GRCh38]
Chr17:66511696 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.318G>A (p.Thr106=) single nucleotide variant Carney complex, type 1 [RCV000468750]|Hereditary cancer-predisposing syndrome [RCV001019080] Chr17:68522896 [GRCh38]
Chr17:66519037 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.125dup (p.Pro43fs) duplication not provided [RCV000478061] Chr17:68515523..68515524 [GRCh38]
Chr17:66511664..66511665 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.135A>G (p.Arg45=) single nucleotide variant Carney complex, type 1 [RCV000465615] Chr17:68515534 [GRCh38]
Chr17:66511675 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.15dup (p.Thr6fs) duplication not provided [RCV000479092] Chr17:68515413..68515414 [GRCh38]
Chr17:66511554..66511555 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.550-8C>T single nucleotide variant Carney complex, type 1 [RCV001082473]|Hereditary cancer-predisposing syndrome [RCV002258924]|not provided [RCV000590276] Chr17:68525746 [GRCh38]
Chr17:66521887 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.488del (p.Thr163fs) deletion not provided [RCV000479640] Chr17:68524063 [GRCh38]
Chr17:66520204 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.71A>G (p.Lys24Arg) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV003470409]|Carney complex, type 1 [RCV000466415]|Hereditary cancer-predisposing syndrome [RCV001026146]|not provided [RCV005230380] Chr17:68515470 [GRCh38]
Chr17:66511611 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000497832]|Carney complex, type 1 [RCV000763414]|Carney complex, type 1 [RCV002524110]|not provided [RCV001544784] Chr17:68530306 [GRCh38]
Chr17:66526447 [GRCh37]
Chr17:17q24.2		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_002734.5(PRKAR1A):c.545C>T (p.Thr182Met) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV004568623]|Carney complex, type 1 [RCV000692010]|Hereditary cancer-predisposing syndrome [RCV001024136]|PRKAR1A-related disorder [RCV004751567]|not provided [RCV000493890]|not specified [RCV001731718] Chr17:68524954 [GRCh38]
Chr17:66521095 [GRCh37]
Chr17:17q24.2		 likely pathogenic|likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.271G>A (p.Val91Ile) single nucleotide variant Carney complex, type 1 [RCV000556071] Chr17:68522849 [GRCh38]
Chr17:66518990 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.108G>C (p.Val36=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570022] Chr17:68515507 [GRCh38]
Chr17:66511648 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.6_11del (p.Glu2_Gly4delinsAsp) deletion Hereditary cancer-predisposing syndrome [RCV003296672] Chr17:68515405..68515410 [GRCh38]
Chr17:66511546..66511551 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1028G>A (p.Gly343Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296675] Chr17:68530331 [GRCh38]
Chr17:66526472 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.853C>T (p.Gln285Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296676] Chr17:68528953 [GRCh38]
Chr17:66525094 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.312C>A (p.Val104=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296678] Chr17:68522890 [GRCh38]
Chr17:66519031 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.714C>A (p.Ser238Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296679] Chr17:68527845 [GRCh38]
Chr17:66523986 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.167G>C (p.Arg56Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296681] Chr17:68515566 [GRCh38]
Chr17:66511707 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.81T>G (p.Ile27Met) single nucleotide variant Carney complex, type 1 [RCV001853793]|Hereditary cancer-predisposing syndrome [RCV000575969] Chr17:68515480 [GRCh38]
Chr17:66511621 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.727C>A (p.Arg243=) single nucleotide variant Carney complex, type 1 [RCV000645612]|Hereditary cancer-predisposing syndrome [RCV001026223]|not specified [RCV001175415] Chr17:68527858 [GRCh38]
Chr17:66523999 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.567A>G (p.Glu189=) single nucleotide variant Carney complex, type 1 [RCV000645613]|Hereditary cancer-predisposing syndrome [RCV002343317] Chr17:68525771 [GRCh38]
Chr17:66521912 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.852G>A (p.Val284=) single nucleotide variant Carney complex, type 1 [RCV000645617]|Hereditary cancer-predisposing syndrome [RCV001017964] Chr17:68528952 [GRCh38]
Chr17:66525093 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.858A>G (p.Gly286=) single nucleotide variant Carney complex, type 1 [RCV000645618]|Hereditary cancer-predisposing syndrome [RCV002449046] Chr17:68528958 [GRCh38]
Chr17:66525099 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.287G>A (p.Arg96Gln) single nucleotide variant Carney complex, type 1 [RCV000645593]|Hereditary cancer-predisposing syndrome [RCV003162928] Chr17:68522865 [GRCh38]
Chr17:66519006 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.571G>A (p.Ala191Thr) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV003459542]|Carney complex, type 1 [RCV000645591]|Hereditary cancer-predisposing syndrome [RCV002343316] Chr17:68525775 [GRCh38]
Chr17:66521916 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.1214C>T (p.Ala405Val) single nucleotide variant not specified [RCV004294691] Chr17:68426154 [GRCh38]
Chr17:66422295 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.360A>G (p.Lys120=) single nucleotide variant Carney complex, type 1 [RCV000533566] Chr17:68523736 [GRCh38]
Chr17:66519877 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.470C>T (p.Ser157Phe) single nucleotide variant Carney complex, type 1 [RCV000536758] Chr17:68524045 [GRCh38]
Chr17:66520186 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.503-10C>A single nucleotide variant not provided [RCV000586677] Chr17:68524902 [GRCh38]
Chr17:66521043 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.894G>C (p.Gly298=) single nucleotide variant Carney complex, type 1 [RCV000541434]|Hereditary cancer-predisposing syndrome [RCV001018527]|PRKAR1A-related disorder [RCV003942819] Chr17:68529922 [GRCh38]
Chr17:66526063 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1600T>C (p.Ser534Pro) single nucleotide variant Inborn genetic diseases [RCV003262747] Chr17:68537503 [GRCh38]
Chr17:66533644 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.473C>T (p.Ala158Val) single nucleotide variant not specified [RCV004293712] Chr17:68436437 [GRCh38]
Chr17:66432578 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.761C>G (p.Ser254Cys) single nucleotide variant Carney complex, type 1 [RCV000539006]|Hereditary cancer-predisposing syndrome [RCV002395420] Chr17:68527892 [GRCh38]
Chr17:66524033 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.306T>C (p.Ala102=) single nucleotide variant Carney complex, type 1 [RCV000865293]|Hereditary cancer-predisposing syndrome [RCV000574344]|not specified [RCV003235294] Chr17:68522884 [GRCh38]
Chr17:66519025 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-7+14G>C single nucleotide variant not specified [RCV000616021] Chr17:68512562 [GRCh38]
Chr17:66508703 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.552C>G (p.Val184=) single nucleotide variant Carney complex, type 1 [RCV000645592]|Hereditary cancer-predisposing syndrome [RCV002350461]|not provided [RCV005243304]|not specified [RCV000608026] Chr17:68525756 [GRCh38]
Chr17:66521897 [GRCh37]
Chr17:17q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002734.5(PRKAR1A):c.597C>T (p.Ser199=) single nucleotide variant Carney complex, type 1 [RCV003626838]|Hereditary cancer-predisposing syndrome [RCV003296673] Chr17:68525801 [GRCh38]
Chr17:66521942 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.128C>A (p.Pro43His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296680] Chr17:68515527 [GRCh38]
Chr17:66511668 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.183G>A (p.Glu61=) single nucleotide variant Carney complex, type 1 [RCV005061222]|Hereditary cancer-predisposing syndrome [RCV003296682] Chr17:68522761 [GRCh38]
Chr17:66518902 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.60C>G (p.Leu20=) single nucleotide variant Carney complex, type 1 [RCV000534098]|Hereditary cancer-predisposing syndrome [RCV001024898]|PRKAR1A-related disorder [RCV003915581]|not specified [RCV001824823] Chr17:68515459 [GRCh38]
Chr17:66511600 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_002734.5(PRKAR1A):c.478G>A (p.Ala160Thr) single nucleotide variant Carney complex, type 1 [RCV000645603]|Carney complex, type 1 [RCV005019080]|Hereditary cancer-predisposing syndrome [RCV002334150] Chr17:68524053 [GRCh38]
Chr17:66520194 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.528G>A (p.Val176=) single nucleotide variant Carney complex, type 1 [RCV000645604] Chr17:68524937 [GRCh38]
Chr17:66521078 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.178-8T>G single nucleotide variant Carney complex, type 1 [RCV000645605]|not specified [RCV000780648] Chr17:68522748 [GRCh38]
Chr17:66518889 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.892-5T>C single nucleotide variant Carney complex, type 1 [RCV000645606] Chr17:68529915 [GRCh38]
Chr17:66526056 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.693T>C (p.Tyr231=) single nucleotide variant Carney complex, type 1 [RCV000645607] Chr17:68525897 [GRCh38]
Chr17:66522038 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.606A>G (p.Glu202=) single nucleotide variant Carney complex, type 1 [RCV000645608]|Hereditary cancer-predisposing syndrome [RCV002358839] Chr17:68525810 [GRCh38]
Chr17:66521951 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.550-6C>T single nucleotide variant Carney complex, type 1 [RCV000645609]|not specified [RCV000781766] Chr17:68525748 [GRCh38]
Chr17:66521889 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.441-5del deletion Carney complex, type 1 [RCV000645610]|not provided [RCV003441992]|not specified [RCV001293551] Chr17:68524008 [GRCh38]
Chr17:66520149 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.525T>C (p.Tyr175=) single nucleotide variant Carney complex, type 1 [RCV000645611]|Hereditary cancer-predisposing syndrome [RCV002334151] Chr17:68524934 [GRCh38]
Chr17:66521075 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.303C>T (p.Ser101=) single nucleotide variant Carney complex, type 1 [RCV000645614]|Hereditary cancer-predisposing syndrome [RCV002255487]|not specified [RCV002469232] Chr17:68522881 [GRCh38]
Chr17:66519022 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.54T>C (p.Cys18=) single nucleotide variant Carney complex, type 1 [RCV000645616] Chr17:68515453 [GRCh38]
Chr17:66511594 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1143C>G (p.Val381=) single nucleotide variant Carney complex, type 1 [RCV000645602]|Hereditary cancer-predisposing syndrome [RCV001017426] Chr17:68530446 [GRCh38]
Chr17:66526587 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.764_768del (p.Ile255fs) deletion Carney complex, type 1 [RCV000645601] Chr17:68527893..68527897 [GRCh38]
Chr17:66524034..66524038 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.177+1G>A single nucleotide variant Carney complex, type 1 [RCV000645600] Chr17:68515577 [GRCh38]
Chr17:66511718 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.974-6C>A single nucleotide variant Carney complex, type 1 [RCV000645599]|not specified [RCV001175091] Chr17:68530271 [GRCh38]
Chr17:66526412 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.177+7A>G single nucleotide variant Carney complex, type 1 [RCV000645598] Chr17:68515583 [GRCh38]
Chr17:66511724 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.121G>A (p.Ala41Thr) single nucleotide variant Carney complex, type 1 [RCV000645597]|Hereditary cancer-predisposing syndrome [RCV001010406] Chr17:68515520 [GRCh38]
Chr17:66511661 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.502+2dup duplication Carney complex, type 1 [RCV000645596] Chr17:68524078..68524079 [GRCh38]
Chr17:66520219..66520220 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1088C>T (p.Ser363Leu) single nucleotide variant Carney complex, type 1 [RCV000645595] Chr17:68530391 [GRCh38]
Chr17:66526532 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1025G>A (p.Arg342His) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV004568431]|Carney complex, type 1 [RCV000645594]|Carney complex, type 1 [RCV002483863]|Hereditary cancer-predisposing syndrome [RCV002386079]|not specified [RCV004702240] Chr17:68530328 [GRCh38]
Chr17:66526469 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
NM_002734.5(PRKAR1A):c.782A>G (p.Lys261Arg) single nucleotide variant Carney complex, type 1 [RCV000688438]|Hereditary cancer-predisposing syndrome [RCV005260334] Chr17:68528882 [GRCh38]
Chr17:66525023 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.464C>T (p.Ser155Leu) single nucleotide variant Carney complex, type 1 [RCV000704084]|Carney complex, type 1 [RCV002485755]|Hereditary cancer-predisposing syndrome [RCV003165901] Chr17:68524039 [GRCh38]
Chr17:66520180 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.973+3A>T single nucleotide variant Carney complex, type 1 [RCV000707633] Chr17:68530004 [GRCh38]
Chr17:66526145 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.885del (p.Thr296fs) deletion Amelogenesis imperfecta type 1G [RCV000714712] Chr17:68542737 [GRCh38]
Chr17:66538878 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NC_000017.11:g.(?_68512379)_(68530459_?)del deletion Carney complex, type 1 [RCV000707990] Chr17:68512379..68530459 [GRCh38]
Chr17:66508520..66526600 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.331G>A (p.Ala111Thr) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001123898]|Carney complex, type 1 [RCV000703002]|Hereditary cancer-predisposing syndrome [RCV002325421] Chr17:68522909 [GRCh38]
Chr17:66519050 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.296C>T (p.Ala99Val) single nucleotide variant Carney complex, type 1 [RCV000691927] Chr17:68522874 [GRCh38]
Chr17:66519015 [GRCh37]
Chr17:17q24.2		 uncertain significance
NC_000017.11:g.(?_68515394)_(68530455_?)del deletion Carney complex, type 1 [RCV000708436] Chr17:68515394..68530455 [GRCh38]
Chr17:66511535..66526596 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.671G>A (p.Trp224Ter) single nucleotide variant Carney complex, type 1 [RCV000697266] Chr17:68525875 [GRCh38]
Chr17:66522016 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.349-5T>C single nucleotide variant Carney complex, type 1 [RCV000704003] Chr17:68523720 [GRCh38]
Chr17:66519861 [GRCh37]
Chr17:17q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002734.5(PRKAR1A):c.151A>G (p.Arg51Gly) single nucleotide variant Carney complex, type 1 [RCV000695293]|Hereditary cancer-predisposing syndrome [RCV001011959] Chr17:68515550 [GRCh38]
Chr17:66511691 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.892-26_905del deletion Carney complex, type 1 [RCV000695655] Chr17:68529891..68529930 [GRCh38]
Chr17:66526032..66526071 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.101C>G (p.Ser34Cys) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV004569386]|Carney complex, type 1 [RCV000704942]|Hereditary cancer-predisposing syndrome [RCV001009718]|not provided [RCV004597863]|not specified [RCV004800550] Chr17:68515500 [GRCh38]
Chr17:66511641 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.838C>G (p.Gln280Glu) single nucleotide variant Carney complex, type 1 [RCV000690842] Chr17:68528938 [GRCh38]
Chr17:66525079 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.812dup (p.Leu271fs) duplication Carney complex, type 1 [RCV000696479]|not provided [RCV002469265] Chr17:68528910..68528911 [GRCh38]
Chr17:66525051..66525052 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.662_663del (p.Val221fs) microsatellite Carney complex, type 1 [RCV000691594] Chr17:68525864..68525865 [GRCh38]
Chr17:66522005..66522006 [GRCh37]
Chr17:17q24.2		 pathogenic
NC_000017.11:g.(?_68515384)_(68529001_?)del deletion Carney complex, type 1 [RCV000708317] Chr17:68515384..68529001 [GRCh38]
Chr17:66511525..66525142 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_017983.7(WIPI1):c.194G>A (p.Arg65His) single nucleotide variant not specified [RCV004678499] Chr17:68450867 [GRCh38]
Chr17:66447008 [GRCh37]
Chr17:17q24.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_002734.5(PRKAR1A):c.708+134_708+135insCT insertion not provided [RCV001537592] Chr17:68526045..68526046 [GRCh38]
Chr17:66522186..66522187 [GRCh37]
Chr17:17q24.2		 benign
NM_017565.4(FAM20A):c.812+49C>T single nucleotide variant not provided [RCV001609512] Chr17:68543580 [GRCh38]
Chr17:66539721 [GRCh37]
Chr17:17q24.2		 benign
NM_017565.4(FAM20A):c.1231C>A (p.Arg411=) single nucleotide variant not provided [RCV000962618] Chr17:68539955 [GRCh38]
Chr17:66536096 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.770-154A>G single nucleotide variant not provided [RCV001545194] Chr17:68528716 [GRCh38]
Chr17:66524857 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.769+10A>T single nucleotide variant Carney complex, type 1 [RCV000874875]|PRKAR1A-related disorder [RCV003955724]|not specified [RCV005056643] Chr17:68527910 [GRCh38]
Chr17:66524051 [GRCh37]
Chr17:17q24.2		 benign|likely benign
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.438A>T (p.Arg146Ser) single nucleotide variant Carney complex, type 1 [RCV001044560] Chr17:68523814 [GRCh38]
Chr17:66519955 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.549+233C>T single nucleotide variant not provided [RCV001568498] Chr17:68525191 [GRCh38]
Chr17:66521332 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.546G>T (p.Thr182=) single nucleotide variant Carney complex, type 1 [RCV001437302] Chr17:68524955 [GRCh38]
Chr17:66521096 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.237G>A (p.Glu79=) single nucleotide variant Carney complex, type 1 [RCV000868311]|Hereditary cancer-predisposing syndrome [RCV002256567]|PRKAR1A-related disorder [RCV003918401] Chr17:68522815 [GRCh38]
Chr17:66518956 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.252T>G (p.Pro84=) single nucleotide variant Carney complex, type 1 [RCV001404633]|Hereditary cancer-predisposing syndrome [RCV002427256] Chr17:68522830 [GRCh38]
Chr17:66518971 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-6-5C>T single nucleotide variant Carney complex, type 1 [RCV000868531] Chr17:68515389 [GRCh38]
Chr17:66511530 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1110C>T (p.Ile370=) single nucleotide variant Carney complex, type 1 [RCV000870296]|Hereditary cancer-predisposing syndrome [RCV001017329] Chr17:68530413 [GRCh38]
Chr17:66526554 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1485C>T (p.Asn495=) single nucleotide variant not provided [RCV000949010] Chr17:68420370 [GRCh38]
Chr17:66416511 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.892-6T>C single nucleotide variant Carney complex, type 1 [RCV000981620] Chr17:68529914 [GRCh38]
Chr17:66526055 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.144A>G (p.Ala48=) single nucleotide variant Carney complex, type 1 [RCV001462276]|Hereditary cancer-predisposing syndrome [RCV001011639] Chr17:68515543 [GRCh38]
Chr17:66511684 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.336C>T (p.Ser112=) single nucleotide variant Carney complex, type 1 [RCV001484783] Chr17:68522914 [GRCh38]
Chr17:66519055 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.892-4A>G single nucleotide variant Carney complex, type 1 [RCV001473650]|Hereditary cancer-predisposing syndrome [RCV003169208] Chr17:68529916 [GRCh38]
Chr17:66526057 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-6-4G>C single nucleotide variant Carney complex, type 1 [RCV000864196] Chr17:68515390 [GRCh38]
Chr17:66511531 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.153G>A (p.Arg51=) single nucleotide variant Carney complex, type 1 [RCV001434551]|Hereditary cancer-predisposing syndrome [RCV002400017] Chr17:68515552 [GRCh38]
Chr17:66511693 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.378C>T (p.Ala126=) single nucleotide variant Carney complex, type 1 [RCV000881192]|Hereditary cancer-predisposing syndrome [RCV001021142]|PRKAR1A-related disorder [RCV003895408]|not specified [RCV001420940] Chr17:68523754 [GRCh38]
Chr17:66519895 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1478T>C (p.Ile493Thr) single nucleotide variant ARSG-related disorder [RCV003912952]|not provided [RCV000906522] Chr17:68420363 [GRCh38]
Chr17:66416504 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1014A>G (p.Thr338=) single nucleotide variant Carney complex, type 1 [RCV001430037]|Hereditary cancer-predisposing syndrome [RCV002327194] Chr17:68530317 [GRCh38]
Chr17:66526458 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.502+6G>A single nucleotide variant Carney complex, type 1 [RCV001041033] Chr17:68524083 [GRCh38]
Chr17:66520224 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.-9C>G single nucleotide variant Carney complex, type 1 [RCV001062189] Chr17:68512546 [GRCh38]
Chr17:66508687 [GRCh37]
Chr17:17q24.2		 uncertain significance
NC_000017.11:g.(?_68512379)_(68524087_?)del deletion Carney complex, type 1 [RCV001033415] Chr17:66508520..66520228 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.240T>G (p.Asp80Glu) single nucleotide variant Carney complex, type 1 [RCV001060519]|Hereditary cancer-predisposing syndrome [RCV002445317] Chr17:68522818 [GRCh38]
Chr17:66518959 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.127C>T (p.Pro43Ser) single nucleotide variant Carney complex, type 1 [RCV001038621]|Hereditary cancer-predisposing syndrome [RCV003160245] Chr17:68515526 [GRCh38]
Chr17:66511667 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.988C>G (p.Leu330Val) single nucleotide variant Carney complex, type 1 [RCV001054238] Chr17:68530291 [GRCh38]
Chr17:66526432 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.155A>G (p.Glu52Gly) single nucleotide variant Carney complex, type 1 [RCV000793734] Chr17:68515554 [GRCh38]
Chr17:66511695 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.506A>G (p.Asp169Gly) single nucleotide variant Carney complex, type 1 [RCV000791860]|Hereditary cancer-predisposing syndrome [RCV003166085] Chr17:68524915 [GRCh38]
Chr17:66521056 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.917G>A (p.Arg306Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442604]|not specified [RCV000781767] Chr17:68529945 [GRCh38]
Chr17:66526086 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.27T>G (p.Ser9Arg) single nucleotide variant Carney complex, type 1 [RCV001856199]|Hereditary cancer-predisposing syndrome [RCV001016643]|not provided [RCV004768644]|not specified [RCV000781768] Chr17:68515426 [GRCh38]
Chr17:66511567 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.792C>T (p.Ile264=) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002505324]|FAM20A-related disorder [RCV003968332]|not provided [RCV000906712] Chr17:68543649 [GRCh38]
Chr17:66539790 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.759C>T (p.Val253=) single nucleotide variant Carney complex, type 1 [RCV002065954]|Hereditary cancer-predisposing syndrome [RCV002390919] Chr17:68527890 [GRCh38]
Chr17:66524031 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.81T>C (p.Ile27=) single nucleotide variant Carney complex, type 1 [RCV001502281]|Hereditary cancer-predisposing syndrome [RCV002427379] Chr17:68515480 [GRCh38]
Chr17:66511621 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.984A>G (p.Ala328=) single nucleotide variant Carney complex, type 1 [RCV001408683]|Hereditary cancer-predisposing syndrome [RCV002258045]|not specified [RCV002509581] Chr17:68530287 [GRCh38]
Chr17:66526428 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1109+10T>G single nucleotide variant not provided [RCV000931249] Chr17:68541975 [GRCh38]
Chr17:66538116 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1479C>A (p.Pro493=) single nucleotide variant not provided [RCV000918272] Chr17:68537624 [GRCh38]
Chr17:66533765 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.891+9C>T single nucleotide variant Carney complex, type 1 [RCV001501033] Chr17:68529000 [GRCh38]
Chr17:66525141 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017983.7(WIPI1):c.1192+4G>A single nucleotide variant not provided [RCV000968749] Chr17:68427131 [GRCh38]
Chr17:66423272 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.810A>G (p.Ala270=) single nucleotide variant Carney complex, type 1 [RCV000952094]|Hereditary cancer-predisposing syndrome [RCV001027183]|not specified [RCV003323766] Chr17:68528910 [GRCh38]
Chr17:66525051 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1133C>T (p.Ser378Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009960]|not specified [RCV000780649] Chr17:68530436 [GRCh38]
Chr17:66526577 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.327T>C (p.Asp109=) single nucleotide variant Carney complex, type 1 [RCV002068978]|Hereditary cancer-predisposing syndrome [RCV001019637] Chr17:68522905 [GRCh38]
Chr17:66519046 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.535C>G (p.Gln179Glu) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV004569587]|Carney complex, type 1 [RCV000802492]|Hereditary cancer-predisposing syndrome [RCV002345792]|not provided [RCV004773162] Chr17:68524944 [GRCh38]
Chr17:66521085 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.4G>C (p.Glu2Gln) single nucleotide variant Carney complex, type 1 [RCV000804490]|Hereditary cancer-predisposing syndrome [RCV004944176] Chr17:68515403 [GRCh38]
Chr17:66511544 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.577A>G (p.Ser193Gly) single nucleotide variant Carney complex, type 1 [RCV000800943] Chr17:68525781 [GRCh38]
Chr17:66521922 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.959C>T (p.Pro320Leu) single nucleotide variant Carney complex, type 1 [RCV000822963]|Hereditary cancer-predisposing syndrome [RCV005260448] Chr17:68529987 [GRCh38]
Chr17:66526128 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.196C>A (p.Gln66Lys) single nucleotide variant Carney complex, type 1 [RCV000821075]|Hereditary cancer-predisposing syndrome [RCV005260443] Chr17:68522774 [GRCh38]
Chr17:66518915 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.850G>A (p.Val284Met) single nucleotide variant Carney complex, type 1 [RCV000813664]|Hereditary cancer-predisposing syndrome [RCV003166324] Chr17:68528950 [GRCh38]
Chr17:66525091 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.13A>C (p.Ser5Arg) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV004569551]|Carney complex, type 1 [RCV000797705]|Hereditary cancer-predisposing syndrome [RCV004649324] Chr17:68515412 [GRCh38]
Chr17:66511553 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.626C>T (p.Thr209Ile) single nucleotide variant Carney complex, type 1 [RCV000816338] Chr17:68525830 [GRCh38]
Chr17:66521971 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.178-3C>T single nucleotide variant Carney complex, type 1 [RCV000794736]|Hereditary cancer-predisposing syndrome [RCV001013169] Chr17:68522753 [GRCh38]
Chr17:66518894 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.35C>G (p.Ala12Gly) single nucleotide variant Carney complex, type 1 [RCV000818013]|Hereditary cancer-predisposing syndrome [RCV002453867]|not provided [RCV002285417] Chr17:68515434 [GRCh38]
Chr17:66511575 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.25A>G (p.Ser9Gly) single nucleotide variant Carney complex, type 1 [RCV000791638]|Carney complex, type 1 [RCV002487631]|Hereditary cancer-predisposing syndrome [RCV002424789]|not specified [RCV002249500] Chr17:68515424 [GRCh38]
Chr17:66511565 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1031C>T (p.Pro344Leu) single nucleotide variant Carney complex, type 1 [RCV000816575]|Hereditary cancer-predisposing syndrome [RCV005260431] Chr17:68530334 [GRCh38]
Chr17:66526475 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1079G>T (p.Gly360Val) single nucleotide variant Carney complex, type 1 [RCV000801888] Chr17:68530382 [GRCh38]
Chr17:66526523 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.620A>G (p.Tyr207Cys) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV000791348] Chr17:68525824 [GRCh38]
Chr17:66521965 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.424GAT[1] (p.Asp143del) microsatellite Carney complex, type 1 [RCV000798665]|Carney complex, type 1 [RCV002495059]|Hereditary cancer-predisposing syndrome [RCV005260399] Chr17:68523799..68523801 [GRCh38]
Chr17:66519940..66519942 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.891+6G>T single nucleotide variant Carney complex, type 1 [RCV000808734]|not specified [RCV003330961] Chr17:68528997 [GRCh38]
Chr17:66525138 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.125G>A (p.Arg42Gln) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV003461254]|Carney complex, type 1 [RCV000818686]|Hereditary cancer-predisposing syndrome [RCV002427034]|not provided [RCV004588290] Chr17:68515524 [GRCh38]
Chr17:66511665 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.317C>T (p.Thr106Met) single nucleotide variant Carney complex, type 1 [RCV000815584]|Hereditary cancer-predisposing syndrome [RCV003166346] Chr17:68522895 [GRCh38]
Chr17:66519036 [GRCh37]
Chr17:17q24.2		 uncertain significance
GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3 copy number gain not provided [RCV000845965] Chr17:57869604..67078443 [GRCh37]
Chr17:17q23.1-24.2		 pathogenic
NM_002734.5(PRKAR1A):c.280AGG[1] (p.Arg97del) microsatellite Carney complex, type 1 [RCV000800473] Chr17:68522858..68522860 [GRCh38]
Chr17:66518999..66519001 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.218C>G (p.Thr73Ser) single nucleotide variant Carney complex, type 1 [RCV000813553]|Hereditary cancer-predisposing syndrome [RCV002424915] Chr17:68522796 [GRCh38]
Chr17:66518937 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.972T>C (p.Phe324=) single nucleotide variant Carney complex, type 1 [RCV000807818]|Hereditary cancer-predisposing syndrome [RCV003380737] Chr17:68530000 [GRCh38]
Chr17:66526141 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.502+209C>T single nucleotide variant not provided [RCV000836504] Chr17:68524286 [GRCh38]
Chr17:66520427 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.-6-236C>T single nucleotide variant not provided [RCV000836508] Chr17:68515158 [GRCh38]
Chr17:66511299 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.166A>G (p.Arg56Gly) single nucleotide variant Carney complex, type 1 [RCV000798435]|Hereditary cancer-predisposing syndrome [RCV004027957] Chr17:68515565 [GRCh38]
Chr17:66511706 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.218C>T (p.Thr73Ile) single nucleotide variant Carney complex, type 1 [RCV001044722]|Hereditary cancer-predisposing syndrome [RCV002258098]|PRKAR1A-related disorder [RCV004751862] Chr17:68522796 [GRCh38]
Chr17:66518937 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.260C>T (p.Pro87Leu) single nucleotide variant Carney complex, type 1 [RCV000793883]|Hereditary cancer-predisposing syndrome [RCV002440629]|not provided [RCV003442072] Chr17:68522838 [GRCh38]
Chr17:66518979 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1062A>G (p.Arg354=) single nucleotide variant Carney complex, type 1 [RCV000814852]|Hereditary cancer-predisposing syndrome [RCV002406849] Chr17:68530365 [GRCh38]
Chr17:66526506 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.178-234A>G single nucleotide variant not provided [RCV000836503] Chr17:68522522 [GRCh38]
Chr17:66518663 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.708+142A>G single nucleotide variant not provided [RCV000836509] Chr17:68526054 [GRCh38]
Chr17:66522195 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.709-209G>A single nucleotide variant not provided [RCV000836510] Chr17:68527631 [GRCh38]
Chr17:66523772 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.320A>C (p.Glu107Ala) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV004569560]|Carney complex, type 1 [RCV000798834]|Hereditary cancer-predisposing syndrome [RCV003307451] Chr17:68522898 [GRCh38]
Chr17:66519039 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.73C>T (p.His25Tyr) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV004569738]|Carney complex, type 1 [RCV000818450]|Hereditary cancer-predisposing syndrome [RCV001026388] Chr17:68515472 [GRCh38]
Chr17:66511613 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.837G>C (p.Gly279=) single nucleotide variant Carney complex, type 1 [RCV000941957]|Hereditary cancer-predisposing syndrome [RCV004029721] Chr17:68528937 [GRCh38]
Chr17:66525078 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.86C>T (p.Ala29Val) single nucleotide variant Carney complex, type 1 [RCV000812651]|Hereditary cancer-predisposing syndrome [RCV002372282] Chr17:68515485 [GRCh38]
Chr17:66511626 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.221G>C (p.Arg74Pro) single nucleotide variant Carney complex, type 1 [RCV000803499]|Hereditary cancer-predisposing syndrome [RCV003372858] Chr17:68522799 [GRCh38]
Chr17:66518940 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.93C>T (p.Leu31=) single nucleotide variant Carney complex, type 1 [RCV001450777]|Hereditary cancer-predisposing syndrome [RCV004944755] Chr17:68515492 [GRCh38]
Chr17:66511633 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.567A>T (p.Glu189Asp) single nucleotide variant Carney complex, type 1 [RCV000797242] Chr17:68525771 [GRCh38]
Chr17:66521912 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.733A>G (p.Met245Val) single nucleotide variant Carney complex, type 1 [RCV000816902]|Hereditary cancer-predisposing syndrome [RCV003307531] Chr17:68527864 [GRCh38]
Chr17:66524005 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.264C>T (p.Asn88=) single nucleotide variant Carney complex, type 1 [RCV001393587]|Hereditary cancer-predisposing syndrome [RCV004944725] Chr17:68522842 [GRCh38]
Chr17:66518983 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1081C>G (p.Pro361Ala) single nucleotide variant Carney complex, type 1 [RCV000820457] Chr17:68530384 [GRCh38]
Chr17:66526525 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.355C>A (p.Pro119Thr) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV003461074]|Carney complex, type 1 [RCV000793341]|Hereditary cancer-predisposing syndrome [RCV002458413] Chr17:68523731 [GRCh38]
Chr17:66519872 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.813G>A (p.Leu271=) single nucleotide variant Carney complex, type 1 [RCV001462577]|Hereditary cancer-predisposing syndrome [RCV002418654]|not specified [RCV001194341] Chr17:68528913 [GRCh38]
Chr17:66525054 [GRCh37]
Chr17:17q24.2		 likely benign
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
NM_002734.5(PRKAR1A):c.436A>G (p.Arg146Gly) single nucleotide variant Carney complex, type 1 [RCV001068162] Chr17:68523812 [GRCh38]
Chr17:66519953 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.523del (p.Tyr175fs) deletion not provided [RCV001008377] Chr17:68524932 [GRCh38]
Chr17:66521073 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.502+3A>G single nucleotide variant Carney complex, type 1 [RCV001307527]|Hereditary cancer-predisposing syndrome [RCV001023437] Chr17:68524080 [GRCh38]
Chr17:66520221 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.441-6T>C single nucleotide variant Carney complex, type 1 [RCV001450611]|not specified [RCV001194342] Chr17:68524010 [GRCh38]
Chr17:66520151 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.480A>T (p.Ala160=) single nucleotide variant Carney complex, type 1 [RCV001455066]|Hereditary cancer-predisposing syndrome [RCV001023090] Chr17:68524055 [GRCh38]
Chr17:66520196 [GRCh37]
Chr17:17q24.2		 likely benign
NC_000017.11:g.68528868AG[1] microsatellite Carney complex, type 1 [RCV001202273] Chr17:68528868..68528869 [GRCh38]
Chr17:66525009..66525010 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.531_534del (p.Asp178fs) microsatellite Carney complex, type 1 [RCV001223560] Chr17:68524936..68524939 [GRCh38]
Chr17:66521077..66521080 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.-7+6_-7+31del deletion Carney complex, type 1 [RCV001240127] Chr17:68512551..68512576 [GRCh38]
Chr17:66508692..66508717 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1097T>G (p.Leu366Arg) single nucleotide variant Carney complex, type 1 [RCV001215813] Chr17:68530400 [GRCh38]
Chr17:66526541 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.82C>G (p.Gln28Glu) single nucleotide variant Carney complex, type 1 [RCV001226660]|Hereditary cancer-predisposing syndrome [RCV002429962] Chr17:68515481 [GRCh38]
Chr17:66511622 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1175G>A (p.Arg392Gln) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002504275]|Inborn genetic diseases [RCV002563007]|not provided [RCV001220439] Chr17:68540893 [GRCh38]
Chr17:66537034 [GRCh37]
Chr17:17q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_002734.5(PRKAR1A):c.122C>A (p.Ala41Asp) single nucleotide variant Carney complex, type 1 [RCV001239978]|Hereditary cancer-predisposing syndrome [RCV004659438] Chr17:68515521 [GRCh38]
Chr17:66511662 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.173_177+1dup duplication Carney complex, type 1 [RCV001239997] Chr17:68515569..68515570 [GRCh38]
Chr17:66511710..66511711 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.37C>T (p.Arg13Cys) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV003462768]|Carney complex, type 1 [RCV001225158]|Hereditary cancer-predisposing syndrome [RCV002356956] Chr17:68515436 [GRCh38]
Chr17:66511577 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.22G>A (p.Ala8Thr) single nucleotide variant Carney complex, type 1 [RCV001221178]|Hereditary cancer-predisposing syndrome [RCV002447114] Chr17:68515421 [GRCh38]
Chr17:66511562 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.526G>A (p.Val176Met) single nucleotide variant Carney complex, type 1 [RCV001238337] Chr17:68524935 [GRCh38]
Chr17:66521076 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.23C>A (p.Ala8Asp) single nucleotide variant Carney complex, type 1 [RCV001210388] Chr17:68515422 [GRCh38]
Chr17:66511563 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.426T>A (p.Asp142Glu) single nucleotide variant Carney complex, type 1 [RCV001222074]|Hereditary cancer-predisposing syndrome [RCV004032435] Chr17:68523802 [GRCh38]
Chr17:66519943 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.827T>C (p.Phe276Ser) single nucleotide variant Carney complex, type 1 [RCV001207530]|Hereditary cancer-predisposing syndrome [RCV002429887] Chr17:68528927 [GRCh38]
Chr17:66525068 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.891+4A>G single nucleotide variant Carney complex, type 1 [RCV001225629] Chr17:68528995 [GRCh38]
Chr17:66525136 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.238G>T (p.Asp80Tyr) single nucleotide variant Carney complex, type 1 [RCV001216667]|Carney complex, type 1 [RCV005029777]|Hereditary cancer-predisposing syndrome [RCV002451483] Chr17:68522816 [GRCh38]
Chr17:66518957 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_017983.7(WIPI1):c.1184C>T (p.Thr395Met) single nucleotide variant not specified [RCV004288854] Chr17:68427143 [GRCh38]
Chr17:66423284 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*1687T>C single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001126877]|Carney complex, type 1 [RCV001126878] Chr17:68532136 [GRCh38]
Chr17:66528277 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.301A>C (p.Ser101Arg) single nucleotide variant Carney complex, type 1 [RCV001228583] Chr17:68522879 [GRCh38]
Chr17:66519020 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*2089A>G single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001124296]|Carney complex, type 1 [RCV001124295] Chr17:68532538 [GRCh38]
Chr17:66528679 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*2152T>C single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001124299]|Carney complex, type 1 [RCV001124300] Chr17:68532601 [GRCh38]
Chr17:66528742 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.387C>G (p.Ala129=) single nucleotide variant Carney complex, type 1 [RCV001490889]|Hereditary cancer-predisposing syndrome [RCV001021340]|not specified [RCV001532960] Chr17:68523763 [GRCh38]
Chr17:66519904 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1486G>A (p.Asp496Asn) single nucleotide variant not provided [RCV001061527] Chr17:68420371 [GRCh38]
Chr17:66416512 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.550-3del deletion not provided [RCV004776685] Chr17:68525749 [GRCh38]
Chr17:66521890 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1082G>A (p.Arg361His) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005029903]|Inborn genetic diseases [RCV004244632]|not provided [RCV003112483] Chr17:68542012 [GRCh38]
Chr17:66538153 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.974C>T (p.Thr325Met) single nucleotide variant Inborn genetic diseases [RCV004244556]|not provided [RCV003105032] Chr17:68542120 [GRCh38]
Chr17:66538261 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1302-209G>A single nucleotide variant not provided [RCV001644004] Chr17:68539605 [GRCh38]
Chr17:66535746 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.892-126A>C single nucleotide variant not provided [RCV001596548] Chr17:68529794 [GRCh38]
Chr17:66525935 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.770-256C>T single nucleotide variant not provided [RCV001716040] Chr17:68528614 [GRCh38]
Chr17:66524755 [GRCh37]
Chr17:17q24.2		 benign
NM_017565.4(FAM20A):c.813-62A>G single nucleotide variant not provided [RCV001668915] Chr17:68542871 [GRCh38]
Chr17:66539012 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.502+26T>C single nucleotide variant not provided [RCV001562340] Chr17:68524103 [GRCh38]
Chr17:66520244 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1219+241G>A single nucleotide variant not provided [RCV001687366] Chr17:68540608 [GRCh38]
Chr17:66536749 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.178-116del deletion not provided [RCV001694386] Chr17:68522640 [GRCh38]
Chr17:66518781 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.892-2A>G single nucleotide variant not provided [RCV001557904] Chr17:68529918 [GRCh38]
Chr17:66526059 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_017565.4(FAM20A):c.1220-187C>A single nucleotide variant not provided [RCV001714824] Chr17:68540153 [GRCh38]
Chr17:66536294 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.-6-312C>T single nucleotide variant not provided [RCV001558325] Chr17:68515082 [GRCh38]
Chr17:66511223 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017983.7(WIPI1):c.950T>A (p.Ile317Asn) single nucleotide variant not specified [RCV004318742] Chr17:68430011 [GRCh38]
Chr17:66426152 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.825G>A (p.Gln275=) single nucleotide variant Carney complex, type 1 [RCV000872985]|Hereditary cancer-predisposing syndrome [RCV002427187] Chr17:68528925 [GRCh38]
Chr17:66525066 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1240T>C (p.Tyr414His) single nucleotide variant not provided [RCV000885896] Chr17:68539946 [GRCh38]
Chr17:66536087 [GRCh37]
Chr17:17q24.2		 benign
NM_017983.7(WIPI1):c.923G>A (p.Arg308His) single nucleotide variant not provided [RCV000889145] Chr17:68430038 [GRCh38]
Chr17:66426179 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.177+9A>G single nucleotide variant Carney complex, type 1 [RCV003514440] Chr17:68515585 [GRCh38]
Chr17:66511726 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1206C>T (p.Phe402=) single nucleotide variant not provided [RCV000888025] Chr17:68540862 [GRCh38]
Chr17:66537003 [GRCh37]
Chr17:17q24.2		 benign
NM_017983.7(WIPI1):c.983G>A (p.Arg328Gln) single nucleotide variant Neural tube defect [RCV000853418] Chr17:68428919 [GRCh38]
Chr17:66425060 [GRCh37]
Chr17:17q24.2		 affects
NM_002734.5(PRKAR1A):c.750T>G (p.Leu250=) single nucleotide variant Carney complex, type 1 [RCV001464800]|Hereditary cancer-predisposing syndrome [RCV001026518] Chr17:68527881 [GRCh38]
Chr17:66524022 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1098C>T (p.Leu366=) single nucleotide variant Carney complex, type 1 [RCV000972603]|Hereditary cancer-predisposing syndrome [RCV001017283] Chr17:68530401 [GRCh38]
Chr17:66526542 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1083A>G (p.Pro361=) single nucleotide variant Carney complex, type 1 [RCV001505771]|Hereditary cancer-predisposing syndrome [RCV002427192]|not provided [RCV003424415] Chr17:68530386 [GRCh38]
Chr17:66526527 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017983.7(WIPI1):c.237A>G (p.Lys79=) single nucleotide variant not provided [RCV000974136] Chr17:68450824 [GRCh38]
Chr17:66446965 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.39C>T (p.Arg13=) single nucleotide variant Carney complex, type 1 [RCV002542167]|Hereditary cancer-predisposing syndrome [RCV004944726] Chr17:68515438 [GRCh38]
Chr17:66511579 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1432C>A (p.Arg478=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256594]|not provided [RCV000910918] Chr17:68537671 [GRCh38]
Chr17:66533812 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.465G>A (p.Ser155=) single nucleotide variant Carney complex, type 1 [RCV001365233]|Hereditary cancer-predisposing syndrome [RCV002327458]|not specified [RCV001193679] Chr17:68524040 [GRCh38]
Chr17:66520181 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.*560G>A single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001126663]|Carney complex, type 1 [RCV001126662] Chr17:68531009 [GRCh38]
Chr17:66527150 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.781A>G (p.Lys261Glu) single nucleotide variant Carney complex, type 1 [RCV001035988]|Hereditary cancer-predisposing syndrome [RCV002409362] Chr17:68528881 [GRCh38]
Chr17:66525022 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.137C>A (p.Pro46His) single nucleotide variant Carney complex, type 1 [RCV001203778]|Hereditary cancer-predisposing syndrome [RCV002379772] Chr17:68515536 [GRCh38]
Chr17:66511677 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.997C>T (p.Arg333Cys) single nucleotide variant Carney complex, type 1 [RCV001219933] Chr17:68530300 [GRCh38]
Chr17:66526441 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*331G>A single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001123993]|Carney complex, type 1 [RCV001123994] Chr17:68530780 [GRCh38]
Chr17:66526921 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.64G>A (p.Val22Ile) single nucleotide variant Carney complex, type 1 [RCV001231257]|Hereditary cancer-predisposing syndrome [RCV003373063] Chr17:68515463 [GRCh38]
Chr17:66511604 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.507T>A (p.Asp169Glu) single nucleotide variant Carney complex, type 1 [RCV001243952] Chr17:68524916 [GRCh38]
Chr17:66521057 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.184G>A (p.Ala62Thr) single nucleotide variant Carney complex, type 1 [RCV001234902]|Hereditary cancer-predisposing syndrome [RCV003380917] Chr17:68522762 [GRCh38]
Chr17:66518903 [GRCh37]
Chr17:17q24.2		 uncertain significance
NC_000017.11:g.(?_68522746)_(68530459_?)del deletion Carney complex, type 1 [RCV001031652] Chr17:66518887..66526600 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.-11C>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001126458]|Carney complex, type 1 [RCV001034319]|PRKAR1A-related disorder [RCV003898039] Chr17:68512544 [GRCh38]
Chr17:66508685 [GRCh37]
Chr17:17q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002734.5(PRKAR1A):c.534T>G (p.Asp178Glu) single nucleotide variant Carney complex, type 1 [RCV001243932]|Hereditary cancer-predisposing syndrome [RCV002348828]|not provided [RCV001358335] Chr17:68524943 [GRCh38]
Chr17:66521084 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1343T>C (p.Leu448Pro) single nucleotide variant not provided [RCV001241704] Chr17:68420228 [GRCh38]
Chr17:66416369 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1314C>T (p.His438=) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002502753]|FAM20A-related disorder [RCV003913041]|not provided [RCV000913493] Chr17:68539384 [GRCh38]
Chr17:66535525 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.522C>T (p.Phe174=) single nucleotide variant Carney complex, type 1 [RCV000911655]|Hereditary cancer-predisposing syndrome [RCV002336899]|not specified [RCV001194343] Chr17:68524931 [GRCh38]
Chr17:66521072 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.*210G>A single nucleotide variant not provided [RCV001656834] Chr17:68537267 [GRCh38]
Chr17:66533408 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.770-24G>A single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001789485]|Carney complex, type 1 [RCV001789484]|not provided [RCV001660853] Chr17:68528846 [GRCh38]
Chr17:66524987 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.-6-2A>G single nucleotide variant Carney complex, type 1 [RCV002032588]|not provided [RCV001551776] Chr17:68515392 [GRCh38]
Chr17:66511533 [GRCh37]
Chr17:17q24.2		 pathogenic|uncertain significance
NM_017565.4(FAM20A):c.1220-107_1220-106del deletion not provided [RCV001635753] Chr17:68540072..68540073 [GRCh38]
Chr17:66536213..66536214 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.499C>T (p.Gln167Ter) single nucleotide variant not provided [RCV001569074] Chr17:68524074 [GRCh38]
Chr17:66520215 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.-6-711A>G single nucleotide variant not provided [RCV001687552] Chr17:68514683 [GRCh38]
Chr17:66510824 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.-69A>G single nucleotide variant not provided [RCV001639681] Chr17:68512486 [GRCh38]
Chr17:66508627 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.957del (p.Pro320fs) deletion Carney complex, type 1 [RCV005094860]|not provided [RCV001664986] Chr17:68529982 [GRCh38]
Chr17:66526123 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_212471.3(PRKAR1A):c.-7+169G>T single nucleotide variant not provided [RCV001655169] Chr17:68512311 [GRCh38]
Chr17:66508452 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.503-246_503-245insGT insertion not provided [RCV001641116] Chr17:68524665..68524666 [GRCh38]
Chr17:66520806..66520807 [GRCh37]
Chr17:17q24.2		 benign
NM_017565.4(FAM20A):c.929-112C>T single nucleotide variant not provided [RCV001635585] Chr17:68542277 [GRCh38]
Chr17:66538418 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.502+117dup duplication not provided [RCV001694795] Chr17:68524184..68524185 [GRCh38]
Chr17:66520325..66520326 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.550-234T>C single nucleotide variant not provided [RCV001590679] Chr17:68525520 [GRCh38]
Chr17:66521661 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.937G>T (p.Val313Phe) single nucleotide variant Carney complex, type 1 [RCV003626663]|Hereditary cancer-predisposing syndrome [RCV001019244] Chr17:68529965 [GRCh38]
Chr17:66526106 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.*32C>T single nucleotide variant not provided [RCV001657111] Chr17:68420495 [GRCh38]
Chr17:66416636 [GRCh37]
Chr17:17q24.2		 benign
NM_212471.3(PRKAR1A):c.-47C>A single nucleotide variant not provided [RCV001722695] Chr17:68512102 [GRCh38]
Chr17:66508243 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.1110C>A (p.Ile370=) single nucleotide variant not specified [RCV001194344] Chr17:68530413 [GRCh38]
Chr17:66526554 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.338A>G (p.Tyr113Cys) single nucleotide variant Carney complex, type 1 [RCV001050559]|Hereditary cancer-predisposing syndrome [RCV002451205] Chr17:68522916 [GRCh38]
Chr17:66519057 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*1085G>A single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001127173]|Carney complex, type 1 [RCV001127174] Chr17:68531534 [GRCh38]
Chr17:66527675 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*1111C>G single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001127175]|Carney complex, type 1 [RCV001127176] Chr17:68531560 [GRCh38]
Chr17:66527701 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*535T>G single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001126660]|Carney complex, type 1 [RCV001126661] Chr17:68530984 [GRCh38]
Chr17:66527125 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*609C>G single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001126665]|Carney complex, type 1 [RCV001126664] Chr17:68531058 [GRCh38]
Chr17:66527199 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*1057G>A single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001126761]|Carney complex, type 1 [RCV001127172] Chr17:68531506 [GRCh38]
Chr17:66527647 [GRCh37]
Chr17:17q24.2		 benign
NC_000017.11:g.(?_68512379)_(68515586_?)del deletion Carney complex, type 1 [RCV001031115] Chr17:66508520..66511727 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.25A>C (p.Ser9Arg) single nucleotide variant Carney complex, type 1 [RCV001059245]|Hereditary cancer-predisposing syndrome [RCV001016062]|not specified [RCV001193680] Chr17:68515424 [GRCh38]
Chr17:66511565 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*1838A>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001127271]|Carney complex, type 1 [RCV001127270] Chr17:68532287 [GRCh38]
Chr17:66528428 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*2844A>C single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001127375]|Carney complex, type 1 [RCV001127376] Chr17:68533293 [GRCh38]
Chr17:66529434 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.4(PRKAR1A):c.*2991G>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001127379]|Carney complex, type 1 [RCV001127380] Chr17:68533440 [GRCh38]
Chr17:66529581 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.666A>G (p.Lys222=) single nucleotide variant Carney complex, type 1 [RCV002067689]|Hereditary cancer-predisposing syndrome [RCV001025510] Chr17:68525870 [GRCh38]
Chr17:66522011 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.*1949G>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001123205]|Carney complex, type 1 [RCV001123204] Chr17:68532398 [GRCh38]
Chr17:66528539 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.28G>A (p.Glu10Lys) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001128516]|Carney complex, type 1 [RCV001128517]|Hereditary cancer-predisposing syndrome [RCV002436716] Chr17:68515427 [GRCh38]
Chr17:66511568 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*1640C>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001124192]|Carney complex, type 1 [RCV001126876] Chr17:68532089 [GRCh38]
Chr17:66528230 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*2114G>A single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001124298]|Carney complex, type 1 [RCV001124297] Chr17:68532563 [GRCh38]
Chr17:66528704 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.900T>A (p.Ala300=) single nucleotide variant Carney complex, type 1 [RCV001446935]|Hereditary cancer-predisposing syndrome [RCV001018637]|not specified [RCV004782625] Chr17:68529928 [GRCh38]
Chr17:66526069 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1220-112C>G single nucleotide variant not provided [RCV001652633] Chr17:68540078 [GRCh38]
Chr17:66536219 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.550-18A>G single nucleotide variant Carney complex, type 1 [RCV002073254]|not provided [RCV001695845] Chr17:68525736 [GRCh38]
Chr17:66521877 [GRCh37]
Chr17:17q24.2		 benign
NM_017565.4(FAM20A):c.1362-97G>C single nucleotide variant not provided [RCV001647993] Chr17:68537838 [GRCh38]
Chr17:66533979 [GRCh37]
Chr17:17q24.2		 benign
NM_017565.4(FAM20A):c.1110-275C>A single nucleotide variant not provided [RCV001616267] Chr17:68541233 [GRCh38]
Chr17:66537374 [GRCh37]
Chr17:17q24.2		 benign
NM_017565.4(FAM20A):c.1362-263T>C single nucleotide variant not provided [RCV001709865] Chr17:68538004 [GRCh38]
Chr17:66534145 [GRCh37]
Chr17:17q24.2		 benign
NM_001267727.2(ARSG):c.1441G>A (p.Glu481Lys) single nucleotide variant not provided [RCV001064497] Chr17:68420326 [GRCh38]
Chr17:66416467 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.891+332T>A single nucleotide variant not provided [RCV001613669] Chr17:68529323 [GRCh38]
Chr17:66525464 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.936T>C (p.Phe312=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019225] Chr17:68529964 [GRCh38]
Chr17:66526105 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.797C>T (p.Thr266Met) single nucleotide variant Carney complex, type 1 [RCV001242917]|Carney complex, type 1 [RCV002479223]|Hereditary cancer-predisposing syndrome [RCV001027021] Chr17:68528897 [GRCh38]
Chr17:66525038 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1378C>T (p.Leu460Phe) single nucleotide variant not provided [RCV001235824] Chr17:68537725 [GRCh38]
Chr17:66533866 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.391G>A (p.Ala131Thr) single nucleotide variant Carney complex, type 1 [RCV001042009] Chr17:68523767 [GRCh38]
Chr17:66519908 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.527T>A (p.Val176Glu) single nucleotide variant Carney complex, type 1 [RCV001212334] Chr17:68524936 [GRCh38]
Chr17:66521077 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*812A>G single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001123028]|Carney complex, type 1 [RCV001124098]|not provided [RCV004694766] Chr17:68531261 [GRCh38]
Chr17:66527402 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.554A>G (p.Tyr185Cys) single nucleotide variant Carney complex, type 1 [RCV001219149]|Hereditary cancer-predisposing syndrome [RCV002348733] Chr17:68525758 [GRCh38]
Chr17:66521899 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.139A>G (p.Met47Val) single nucleotide variant Carney complex, type 1 [RCV001049581]|Hereditary cancer-predisposing syndrome [RCV001011385]|not provided [RCV002550766] Chr17:68515538 [GRCh38]
Chr17:66511679 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.59T>G (p.Leu20Arg) single nucleotide variant Carney complex, type 1 [RCV005253682]|Hereditary cancer-predisposing syndrome [RCV001024779] Chr17:68515458 [GRCh38]
Chr17:66511599 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.-7+1G>C single nucleotide variant Carney complex, type 1 [RCV001232313] Chr17:68512549 [GRCh38]
Chr17:66508690 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.683G>A (p.Arg228Gln) single nucleotide variant Carney complex, type 1 [RCV001066088]|Hereditary cancer-predisposing syndrome [RCV001025716] Chr17:68525887 [GRCh38]
Chr17:66522028 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.185C>T (p.Ala62Val) single nucleotide variant Carney complex, type 1 [RCV001048507]|Hereditary cancer-predisposing syndrome [RCV002409417] Chr17:68522763 [GRCh38]
Chr17:66518904 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*299T>G single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001123992]|Carney complex, type 1 [RCV001122928] Chr17:68530748 [GRCh38]
Chr17:66526889 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.791G>A (p.Arg264His) single nucleotide variant Carney complex, type 1 [RCV002551986]|Hereditary cancer-predisposing syndrome [RCV001026953]|not specified [RCV001194345] Chr17:68528891 [GRCh38]
Chr17:66525032 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.801A>G (p.Val267=) single nucleotide variant Carney complex, type 1 [RCV001445644]|Hereditary cancer-predisposing syndrome [RCV001027069] Chr17:68528901 [GRCh38]
Chr17:66525042 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.*1003C>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001126760]|Carney complex, type 1 [RCV001126759] Chr17:68531452 [GRCh38]
Chr17:66527593 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.107T>G (p.Val36Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009840] Chr17:68515506 [GRCh38]
Chr17:66511647 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.206A>G (p.Gln69Arg) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV004569930]|Carney complex, type 1 [RCV001221574]|Hereditary cancer-predisposing syndrome [RCV001014308] Chr17:68522784 [GRCh38]
Chr17:66518925 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*2212C>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001127374]|Carney complex, type 1 [RCV001126965] Chr17:68532661 [GRCh38]
Chr17:66528802 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.51A>T (p.Glu17Asp) single nucleotide variant Carney complex, type 1 [RCV001065796]|Hereditary cancer-predisposing syndrome [RCV001023706]|not specified [RCV001532888] Chr17:68515450 [GRCh38]
Chr17:66511591 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.754A>G (p.Lys252Glu) single nucleotide variant Carney complex, type 1 [RCV001064627] Chr17:68527885 [GRCh38]
Chr17:66524026 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1219+3_1219+6del microsatellite Amelogenesis imperfecta type 1G [RCV001093647] Chr17:68540843..68540846 [GRCh38]
Chr17:66536984..66536987 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_212472.2(PRKAR1A):c.-200T>A single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001123808]|Carney complex, type 1 [RCV001123809] Chr17:68512386 [GRCh38]
Chr17:66508527 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*2940G>A single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001127377]|Carney complex, type 1 [RCV001127378] Chr17:68533389 [GRCh38]
Chr17:66529530 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.21C>A (p.Ala7=) single nucleotide variant Carney complex, type 1 [RCV001504929]|Hereditary cancer-predisposing syndrome [RCV001014770] Chr17:68515420 [GRCh38]
Chr17:66511561 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.236A>G (p.Glu79Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015311] Chr17:68522814 [GRCh38]
Chr17:66518955 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.24C>T (p.Ala8=) single nucleotide variant Carney complex, type 1 [RCV002068919]|Hereditary cancer-predisposing syndrome [RCV001015726] Chr17:68515423 [GRCh38]
Chr17:66511564 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.695G>A (p.Arg232Lys) single nucleotide variant not provided [RCV001092734] Chr17:68525899 [GRCh38]
Chr17:66522040 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.250C>T (p.Pro84Ser) single nucleotide variant Carney complex, type 1 [RCV002551782]|Hereditary cancer-predisposing syndrome [RCV001015769]|not provided [RCV004773223] Chr17:68522828 [GRCh38]
Chr17:66518969 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*233C>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001122926]|Carney complex, type 1 [RCV001122927] Chr17:68530682 [GRCh38]
Chr17:66526823 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.276A>G (p.Lys92=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016541] Chr17:68522854 [GRCh38]
Chr17:66518995 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.770-8T>G single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001128619]|Carney complex, type 1 [RCV001128620]|Hereditary cancer-predisposing syndrome [RCV002256686] Chr17:68528862 [GRCh38]
Chr17:66525003 [GRCh37]
Chr17:17q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001267727.2(ARSG):c.1353del (p.Lys451fs) deletion not provided [RCV001228498] Chr17:68420238 [GRCh38]
Chr17:66416379 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.836G>A (p.Gly279Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017641] Chr17:68528936 [GRCh38]
Chr17:66525077 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.83A>C (p.Gln28Pro) single nucleotide variant Carney complex, type 1 [RCV002304225]|Hereditary cancer-predisposing syndrome [RCV001017705] Chr17:68515482 [GRCh38]
Chr17:66511623 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.*384C>T single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001123996]|Carney complex, type 1 [RCV001123995] Chr17:68530833 [GRCh38]
Chr17:66526974 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.13A>G (p.Ser5Gly) single nucleotide variant Carney complex, type 1 [RCV003514453]|Hereditary cancer-predisposing syndrome [RCV001011392]|not specified [RCV005236527] Chr17:68515412 [GRCh38]
Chr17:66511553 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.431_440del (p.Asn144fs) deletion Carney complex, type 1 [RCV001038140] Chr17:68523807..68523816 [GRCh38]
Chr17:66519948..66519957 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.572C>T (p.Ala191Val) single nucleotide variant Carney complex, type 1 [RCV001042723]|Hereditary cancer-predisposing syndrome [RCV004649414] Chr17:68525776 [GRCh38]
Chr17:66521917 [GRCh37]
Chr17:17q24.2		 benign|uncertain significance
NM_002734.5(PRKAR1A):c.-15C>A single nucleotide variant Carney complex, type 1 [RCV001053408] Chr17:68512540 [GRCh38]
Chr17:66508681 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.658A>C (p.Asn220His) single nucleotide variant Carney complex, type 1 [RCV001039304] Chr17:68525862 [GRCh38]
Chr17:66522003 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.179del (p.Glu60fs) deletion Carney complex, type 1 [RCV001253023] Chr17:68522757 [GRCh38]
Chr17:66518898 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.756A>C (p.Lys252Asn) single nucleotide variant Carney complex, type 1 [RCV001327467]|Hereditary cancer-predisposing syndrome [RCV002393666]|not provided [RCV003227017]|not specified [RCV001251281] Chr17:68527887 [GRCh38]
Chr17:66524028 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.328C>T (p.Arg110Trp) single nucleotide variant not specified [RCV004678495] Chr17:68450733 [GRCh38]
Chr17:66446874 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.550-18A>T single nucleotide variant Carney complex, type 1 [RCV002184880] Chr17:68525736 [GRCh38]
Chr17:66521877 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017983.7(WIPI1):c.157G>C (p.Gly53Arg) single nucleotide variant not specified [RCV004688772] Chr17:68452916 [GRCh38]
Chr17:66449057 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.1045G>A (p.Gly349Arg) single nucleotide variant not specified [RCV004678496] Chr17:68428857 [GRCh38]
Chr17:66424998 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.889A>G (p.Met297Val) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV005220997]|not specified [RCV004678497] Chr17:68430072 [GRCh38]
Chr17:66426213 [GRCh37]
Chr17:17q24.2		 uncertain significance|not provided
NM_017983.7(WIPI1):c.242G>A (p.Arg81Gln) single nucleotide variant not specified [RCV004678498] Chr17:68450819 [GRCh38]
Chr17:66446960 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.565_566insC (p.Glu189fs) insertion Arrhythmogenic right ventricular dysplasia 10 [RCV001537873] Chr17:68525769..68525770 [GRCh38]
Chr17:66521910..66521911 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_001267727.2(ARSG):c.1412G>A (p.Gly471Asp) single nucleotide variant not provided [RCV001298427]|not specified [RCV004036104] Chr17:68420297 [GRCh38]
Chr17:66416438 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.65T>G (p.Val22Gly) single nucleotide variant Carney complex, type 1 [RCV001304701] Chr17:68515464 [GRCh38]
Chr17:66511605 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.892-6_892-2del deletion Carney complex, type 1 [RCV001313922]|Hereditary cancer-predisposing syndrome [RCV004944995] Chr17:68529912..68529916 [GRCh38]
Chr17:66526053..66526057 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1326del (p.Ser443fs) deletion Usher syndrome, type 4 [RCV001281078]|not provided [RCV001871630] Chr17:68420209 [GRCh38]
Chr17:66416350 [GRCh37]
Chr17:17q24.2		 pathogenic|uncertain significance
NM_002734.5(PRKAR1A):c.590G>A (p.Gly197Glu) single nucleotide variant Carney complex, type 1 [RCV001327921] Chr17:68525794 [GRCh38]
Chr17:66521935 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.139A>T (p.Met47Leu) single nucleotide variant Carney complex, type 1 [RCV001305431] Chr17:68515538 [GRCh38]
Chr17:66511679 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.915_918del (p.Phe305fs) deletion Amelogenesis imperfecta type 1G [RCV001535979]|not provided [RCV002546414] Chr17:68542704..68542707 [GRCh38]
Chr17:66538845..66538848 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.640A>G (p.Thr214Ala) single nucleotide variant Carney complex, type 1 [RCV001340440] Chr17:68525844 [GRCh38]
Chr17:66521985 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1385C>T (p.Thr462Ile) single nucleotide variant not provided [RCV001341158] Chr17:68420270 [GRCh38]
Chr17:66416411 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.465G>C (p.Ser155=) single nucleotide variant Carney complex, type 1 [RCV001392356]|Hereditary cancer-predisposing syndrome [RCV002329411] Chr17:68524040 [GRCh38]
Chr17:66520181 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_017565.4(FAM20A):c.1569C>T (p.Val523=) single nucleotide variant not provided [RCV001392384] Chr17:68537534 [GRCh38]
Chr17:66533675 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-12C>T single nucleotide variant Carney complex, type 1 [RCV001350639] Chr17:68512543 [GRCh38]
Chr17:66508684 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1107C>T (p.Asn369=) single nucleotide variant Carney complex, type 1 [RCV001433156]|Hereditary cancer-predisposing syndrome [RCV003160736] Chr17:68530410 [GRCh38]
Chr17:66526551 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.112T>C (p.Leu38=) single nucleotide variant Carney complex, type 1 [RCV001414566]|Hereditary cancer-predisposing syndrome [RCV003160661] Chr17:68515511 [GRCh38]
Chr17:66511652 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.762T>G (p.Ser254=) single nucleotide variant Carney complex, type 1 [RCV001392156] Chr17:68527893 [GRCh38]
Chr17:66524034 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.221_230del (p.Arg74fs) deletion Carney complex, type 1 [RCV001281678] Chr17:68522795..68522804 [GRCh38]
Chr17:66518936..66518945 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.886T>A (p.Leu296Ile) single nucleotide variant Carney complex, type 1 [RCV001359954] Chr17:68528986 [GRCh38]
Chr17:66525127 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.239A>G (p.Asp80Gly) single nucleotide variant Carney complex, type 1 [RCV001303569]|Hereditary cancer-predisposing syndrome [RCV003294226] Chr17:68522817 [GRCh38]
Chr17:66518958 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.804T>C (p.His268=) single nucleotide variant not provided [RCV001433697] Chr17:68543637 [GRCh38]
Chr17:66539778 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.154G>A (p.Glu52Lys) single nucleotide variant Carney complex, type 1 [RCV001361973]|Hereditary cancer-predisposing syndrome [RCV002404854] Chr17:68515553 [GRCh38]
Chr17:66511694 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1562G>A (p.Arg521His) single nucleotide variant not provided [RCV001306187] Chr17:68420447 [GRCh38]
Chr17:66416588 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1057C>A (p.Pro353Thr) single nucleotide variant Carney complex, type 1 [RCV001343407]|Carney complex, type 1 [RCV005014456]|Hereditary cancer-predisposing syndrome [RCV002412078] Chr17:68530360 [GRCh38]
Chr17:66526501 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1094T>C (p.Leu365Pro) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002486410]|not provided [RCV001346403] Chr17:68542000 [GRCh38]
Chr17:66538141 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.435G>C (p.Glu145Asp) single nucleotide variant Carney complex, type 1 [RCV001373756] Chr17:68523811 [GRCh38]
Chr17:66519952 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1381G>A (p.Asp461Asn) single nucleotide variant not provided [RCV001360475]|not specified [RCV004857791] Chr17:68420266 [GRCh38]
Chr17:66416407 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.856_873del (p.Gly286_Glu291del) deletion Carney complex, type 1 [RCV001316505]|not provided [RCV003314002] Chr17:68528954..68528971 [GRCh38]
Chr17:66525095..66525112 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.33G>C (p.Glu11Asp) single nucleotide variant Carney complex, type 1 [RCV001297977]|Hereditary cancer-predisposing syndrome [RCV003294212] Chr17:68515432 [GRCh38]
Chr17:66511573 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.861A>C (p.Glu287Asp) single nucleotide variant Carney complex, type 1 [RCV001360968] Chr17:68528961 [GRCh38]
Chr17:66525102 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.850G>T (p.Val284Leu) single nucleotide variant Carney complex, type 1 [RCV001347052]|Hereditary cancer-predisposing syndrome [RCV002447420] Chr17:68528950 [GRCh38]
Chr17:66525091 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.629C>T (p.Pro210Leu) single nucleotide variant Carney complex, type 1 [RCV001296473]|Hereditary cancer-predisposing syndrome [RCV004649555] Chr17:68525833 [GRCh38]
Chr17:66521974 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.790C>T (p.Arg264Cys) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV004570765]|Carney complex, type 1 [RCV001319345]|Hereditary cancer-predisposing syndrome [RCV002256741]|not provided [RCV003156337]|not specified [RCV003479312] Chr17:68528890 [GRCh38]
Chr17:66525031 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.47G>A (p.Arg16Gln) single nucleotide variant Carney complex, type 1 [RCV001341395]|Hereditary cancer-predisposing syndrome [RCV003169624]|not specified [RCV002469376] Chr17:68515446 [GRCh38]
Chr17:66511587 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1070G>A (p.Arg357His) single nucleotide variant Carney complex, type 1 [RCV001345335] Chr17:68530373 [GRCh38]
Chr17:66526514 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.249TCC[2] (p.Pro87del) microsatellite Carney complex, type 1 [RCV001339280] Chr17:68522826..68522828 [GRCh38]
Chr17:66518967..66518969 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.550-8C>G single nucleotide variant Carney complex, type 1 [RCV001316264] Chr17:68525746 [GRCh38]
Chr17:66521887 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.550-6_550-5insCT insertion Carney complex, type 1 [RCV001322641] Chr17:68525748..68525749 [GRCh38]
Chr17:66521889..66521890 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.658A>G (p.Asn220Asp) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV003462929]|Carney complex, type 1 [RCV001366162]|Hereditary cancer-predisposing syndrome [RCV002377536]|not provided [RCV005054366] Chr17:68525862 [GRCh38]
Chr17:66522003 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1465G>A (p.Val489Ile) single nucleotide variant not provided [RCV001369763] Chr17:68420350 [GRCh38]
Chr17:66416491 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.348+10A>G single nucleotide variant Carney complex, type 1 [RCV001304922] Chr17:68522936 [GRCh38]
Chr17:66519077 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.1142_1145del (p.Val381fs) microsatellite Carney complex, type 1 [RCV001370028] Chr17:68530438..68530441 [GRCh38]
Chr17:66526579..66526582 [GRCh37]
Chr17:17q24.2		 likely pathogenic|uncertain significance
NM_002734.5(PRKAR1A):c.-7+3G>A single nucleotide variant Carney complex, type 1 [RCV001421516] Chr17:68512551 [GRCh38]
Chr17:66508692 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.192G>A (p.Gln64=) single nucleotide variant Carney complex, type 1 [RCV001412535]|Hereditary cancer-predisposing syndrome [RCV002413983] Chr17:68522770 [GRCh38]
Chr17:66518911 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1174C>T (p.Arg392Trp) single nucleotide variant Inborn genetic diseases [RCV003246954]|not provided [RCV001367277] Chr17:68540894 [GRCh38]
Chr17:66537035 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.23C>T (p.Ala8Val) single nucleotide variant Carney complex, type 1 [RCV001371600] Chr17:68515422 [GRCh38]
Chr17:66511563 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.43C>A (p.Leu15Ile) single nucleotide variant Carney complex, type 1 [RCV001367352]|Hereditary cancer-predisposing syndrome [RCV003298596] Chr17:68515442 [GRCh38]
Chr17:66511583 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.656C>T (p.Thr219Ile) single nucleotide variant Carney complex, type 1 [RCV001360882] Chr17:68525860 [GRCh38]
Chr17:66522001 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.580G>A (p.Val194Ile) single nucleotide variant Carney complex, type 1 [RCV001307164]|Hereditary cancer-predisposing syndrome [RCV002357115] Chr17:68525784 [GRCh38]
Chr17:66521925 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1557C>T (p.Ala519=) single nucleotide variant not provided [RCV001412957] Chr17:68420442 [GRCh38]
Chr17:66416583 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.77A>C (p.Asn26Thr) single nucleotide variant Carney complex, type 1 [RCV001370397] Chr17:68515476 [GRCh38]
Chr17:66511617 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.441-10T>C single nucleotide variant Carney complex, type 1 [RCV001461534] Chr17:68524006 [GRCh38]
Chr17:66520147 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.891+10T>G single nucleotide variant Carney complex, type 1 [RCV001435623] Chr17:68529001 [GRCh38]
Chr17:66525142 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.78C>T (p.Asn26=) single nucleotide variant Carney complex, type 1 [RCV001490428] Chr17:68515477 [GRCh38]
Chr17:66511618 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.769+10A>G single nucleotide variant Carney complex, type 1 [RCV001425226] Chr17:68527910 [GRCh38]
Chr17:66524051 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.252T>C (p.Pro84=) single nucleotide variant Carney complex, type 1 [RCV001503107]|Hereditary cancer-predisposing syndrome [RCV002424935] Chr17:68522830 [GRCh38]
Chr17:66518971 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.468C>T (p.Val156=) single nucleotide variant Carney complex, type 1 [RCV001436174]|Hereditary cancer-predisposing syndrome [RCV002341952] Chr17:68524043 [GRCh38]
Chr17:66520184 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1332G>C (p.Thr444=) single nucleotide variant not provided [RCV001488021] Chr17:68420217 [GRCh38]
Chr17:66416358 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1053C>T (p.Asp351=) single nucleotide variant Carney complex, type 1 [RCV001503550] Chr17:68530356 [GRCh38]
Chr17:66526497 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.330_338dup (p.Tyr113Ter) duplication Carney complex, type 1 [RCV001380901] Chr17:68522907..68522908 [GRCh38]
Chr17:66519048..66519049 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_001267727.2(ARSG):c.1500C>T (p.Ser500=) single nucleotide variant not provided [RCV001483778] Chr17:68420385 [GRCh38]
Chr17:66416526 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.42C>T (p.Ser14=) single nucleotide variant Carney complex, type 1 [RCV001477018]|Hereditary cancer-predisposing syndrome [RCV002329575]|not provided [RCV003426136] Chr17:68515441 [GRCh38]
Chr17:66511582 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1140T>A (p.Ser380=) single nucleotide variant Carney complex, type 1 [RCV001431235]|Hereditary cancer-predisposing syndrome [RCV002456712] Chr17:68530443 [GRCh38]
Chr17:66526584 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.783G>A (p.Lys261=) single nucleotide variant Carney complex, type 1 [RCV001456181]|Hereditary cancer-predisposing syndrome [RCV002414094] Chr17:68528883 [GRCh38]
Chr17:66525024 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1380C>T (p.Asp460=) single nucleotide variant not provided [RCV001426719] Chr17:68420265 [GRCh38]
Chr17:66416406 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1440C>T (p.Pro480=) single nucleotide variant not provided [RCV001493095] Chr17:68420325 [GRCh38]
Chr17:66416466 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.111G>A (p.Gln37=) single nucleotide variant Carney complex, type 1 [RCV001460906]|Hereditary cancer-predisposing syndrome [RCV002439091] Chr17:68515510 [GRCh38]
Chr17:66511651 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1219+15G>A single nucleotide variant not provided [RCV001442938] Chr17:68540834 [GRCh38]
Chr17:66536975 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.930A>G (p.Glu310=) single nucleotide variant Carney complex, type 1 [RCV001393762]|Hereditary cancer-predisposing syndrome [RCV002377585] Chr17:68529958 [GRCh38]
Chr17:66526099 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1491C>T (p.Asn497=) single nucleotide variant not provided [RCV001438095] Chr17:68420376 [GRCh38]
Chr17:66416517 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.973+7A>G single nucleotide variant Carney complex, type 1 [RCV001403076] Chr17:68530008 [GRCh38]
Chr17:66526149 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.879C>T (p.Phe293=) single nucleotide variant Carney complex, type 1 [RCV001406629]|Hereditary cancer-predisposing syndrome [RCV002377627] Chr17:68528979 [GRCh38]
Chr17:66525120 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.981T>C (p.Ile327=) single nucleotide variant Carney complex, type 1 [RCV001446157]|Hereditary cancer-predisposing syndrome [RCV003160798]|not specified [RCV003120608] Chr17:68530284 [GRCh38]
Chr17:66526425 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1371del (p.Thr459fs) deletion not provided [RCV001387245] Chr17:68537732 [GRCh38]
Chr17:66533873 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.561C>T (p.Asn187=) single nucleotide variant Carney complex, type 1 [RCV001432457]|Hereditary cancer-predisposing syndrome [RCV002350852] Chr17:68525765 [GRCh38]
Chr17:66521906 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.306T>G (p.Ala102=) single nucleotide variant Carney complex, type 1 [RCV001448895]|Hereditary cancer-predisposing syndrome [RCV005262484] Chr17:68522884 [GRCh38]
Chr17:66519025 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.770-4T>G single nucleotide variant Carney complex, type 1 [RCV001438683] Chr17:68528866 [GRCh38]
Chr17:66525007 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.590dup (p.Gly198fs) duplication Carney complex, type 1 [RCV001389562] Chr17:68525792..68525793 [GRCh38]
Chr17:66521933..66521934 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.123T>G (p.Ala41=) single nucleotide variant Carney complex, type 1 [RCV001410197]|Hereditary cancer-predisposing syndrome [RCV002384600] Chr17:68515522 [GRCh38]
Chr17:66511663 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.340del (p.Val114fs) deletion Carney complex, type 1 [RCV001387956] Chr17:68522918 [GRCh38]
Chr17:66519059 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_001267727.2(ARSG):c.1482C>T (p.Ala494=) single nucleotide variant not provided [RCV001444631] Chr17:68420367 [GRCh38]
Chr17:66416508 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.579T>C (p.Ser193=) single nucleotide variant Carney complex, type 1 [RCV001431035] Chr17:68525783 [GRCh38]
Chr17:66521924 [GRCh37]
Chr17:17q24.2		 likely benign
NC_000017.10:g.(?_66508520)_(66533875_?)del deletion Carney complex, type 1 [RCV001390224] Chr17:66508520..66533875 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.770-9G>A single nucleotide variant Carney complex, type 1 [RCV001447346] Chr17:68528861 [GRCh38]
Chr17:66525002 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.498_499insGTAAGGG (p.Gln167fs) insertion Carney complex, type 1 [RCV001388811] Chr17:68524072..68524073 [GRCh38]
Chr17:66520213..66520214 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_001267727.2(ARSG):c.1419G>A (p.Ala473=) single nucleotide variant not provided [RCV001408382] Chr17:68420304 [GRCh38]
Chr17:66416445 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.550-7A>G single nucleotide variant Carney complex, type 1 [RCV001493986] Chr17:68525747 [GRCh38]
Chr17:66521888 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1317G>A (p.Ala439=) single nucleotide variant not provided [RCV001429636] Chr17:68420202 [GRCh38]
Chr17:66416343 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.973+9G>C single nucleotide variant Carney complex, type 1 [RCV001408658] Chr17:68530010 [GRCh38]
Chr17:66526151 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1068A>G (p.Glu356=) single nucleotide variant Carney complex, type 1 [RCV001439172]|Hereditary cancer-predisposing syndrome [RCV002414045] Chr17:68530371 [GRCh38]
Chr17:66526512 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.357A>G (p.Pro119=) single nucleotide variant Carney complex, type 1 [RCV001439196] Chr17:68523733 [GRCh38]
Chr17:66519874 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1506T>C (p.Asp502=) single nucleotide variant not provided [RCV001432317] Chr17:68420391 [GRCh38]
Chr17:66416532 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.75T>C (p.His25=) single nucleotide variant Carney complex, type 1 [RCV001411881]|Hereditary cancer-predisposing syndrome [RCV004038085] Chr17:68515474 [GRCh38]
Chr17:66511615 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.300C>T (p.Ile100=) single nucleotide variant Carney complex, type 1 [RCV001468553]|Hereditary cancer-predisposing syndrome [RCV002439113]|not provided [RCV003327518] Chr17:68522878 [GRCh38]
Chr17:66519019 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.1075C>G (p.Leu359Val) single nucleotide variant Carney complex, type 1 [RCV002573365]|not provided [RCV001597519] Chr17:68530378 [GRCh38]
Chr17:66526519 [GRCh37]
Chr17:17q24.2		 likely pathogenic|uncertain significance
NM_002734.5(PRKAR1A):c.60C>T (p.Leu20=) single nucleotide variant Carney complex, type 1 [RCV001454577]|Hereditary cancer-predisposing syndrome [RCV002359013] Chr17:68515459 [GRCh38]
Chr17:66511600 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1512_1531del (p.Gln505fs) deletion not provided [RCV001682658] Chr17:68420396..68420415 [GRCh38]
Chr17:66416537..66416556 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.974-8T>C single nucleotide variant Carney complex, type 1 [RCV001495577] Chr17:68530269 [GRCh38]
Chr17:66526410 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.504T>C (p.Gly168=) single nucleotide variant Carney complex, type 1 [RCV001454706]|Hereditary cancer-predisposing syndrome [RCV002342011] Chr17:68524913 [GRCh38]
Chr17:66521054 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1293C>T (p.Asn431=) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005023173]|not provided [RCV001486641] Chr17:68539893 [GRCh38]
Chr17:66536034 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_017565.4(FAM20A):c.1110-52G>A single nucleotide variant not provided [RCV001611248] Chr17:68541010 [GRCh38]
Chr17:66537151 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.642T>A (p.Thr214=) single nucleotide variant Carney complex, type 1 [RCV001469918]|Hereditary cancer-predisposing syndrome [RCV002368442] Chr17:68525846 [GRCh38]
Chr17:66521987 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.15T>C (p.Ser5=) single nucleotide variant Carney complex, type 1 [RCV001459861] Chr17:68515414 [GRCh38]
Chr17:66511555 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1110-205C>T single nucleotide variant not provided [RCV001713740] Chr17:68541163 [GRCh38]
Chr17:66537304 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.819A>G (p.Pro273=) single nucleotide variant Carney complex, type 1 [RCV001497701]|Hereditary cancer-predisposing syndrome [RCV003161002] Chr17:68528919 [GRCh38]
Chr17:66525060 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.717A>C (p.Thr239=) single nucleotide variant Carney complex, type 1 [RCV001500914]|Hereditary cancer-predisposing syndrome [RCV002377876]|not provided [RCV004809652] Chr17:68527848 [GRCh38]
Chr17:66523989 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1110-196C>T single nucleotide variant not provided [RCV001647964] Chr17:68541154 [GRCh38]
Chr17:66537295 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.834T>C (p.Asp278=) single nucleotide variant Carney complex, type 1 [RCV001478266] Chr17:68528934 [GRCh38]
Chr17:66525075 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.897A>C (p.Ser299=) single nucleotide variant Carney complex, type 1 [RCV001498580] Chr17:68529925 [GRCh38]
Chr17:66526066 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.621T>C (p.Tyr207=) single nucleotide variant Carney complex, type 1 [RCV001501521]|Hereditary cancer-predisposing syndrome [RCV004037429] Chr17:68525825 [GRCh38]
Chr17:66521966 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.387C>T (p.Ala129=) single nucleotide variant Carney complex, type 1 [RCV001495495]|Hereditary cancer-predisposing syndrome [RCV002368512] Chr17:68523763 [GRCh38]
Chr17:66519904 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1304-8CT[2] microsatellite not provided [RCV001487286] Chr17:68420181..68420182 [GRCh38]
Chr17:66416322..66416323 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.726G>A (p.Lys242=) single nucleotide variant Carney complex, type 1 [RCV001458354]|Hereditary cancer-predisposing syndrome [RCV004945159] Chr17:68527857 [GRCh38]
Chr17:66523998 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.903T>C (p.Ala301=) single nucleotide variant Carney complex, type 1 [RCV001457672]|Hereditary cancer-predisposing syndrome [RCV004945158] Chr17:68529931 [GRCh38]
Chr17:66526072 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.349-9dup duplication Carney complex, type 1 [RCV001474255] Chr17:68523715..68523716 [GRCh38]
Chr17:66519856..66519857 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.202C>T (p.Leu68=) single nucleotide variant Carney complex, type 1 [RCV001478543]|Hereditary cancer-predisposing syndrome [RCV004945178] Chr17:68522780 [GRCh38]
Chr17:66518921 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.503-9C>G single nucleotide variant Carney complex, type 1 [RCV001454171] Chr17:68524903 [GRCh38]
Chr17:66521044 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.318G>T (p.Thr106=) single nucleotide variant Carney complex, type 1 [RCV001458783] Chr17:68522896 [GRCh38]
Chr17:66519037 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.215_216del (p.Gly72fs) deletion Carney complex, type 1 [RCV001388710] Chr17:68522793..68522794 [GRCh38]
Chr17:66518934..66518935 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.873G>A (p.Glu291=) single nucleotide variant Carney complex, type 1 [RCV001478353] Chr17:68528973 [GRCh38]
Chr17:66525114 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.864C>T (p.Val288=) single nucleotide variant not provided [RCV001452216] Chr17:68542758 [GRCh38]
Chr17:66538899 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.735G>A (p.Glu245=) single nucleotide variant not provided [RCV001514726] Chr17:68543706 [GRCh38]
Chr17:66539847 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.513G>A (p.Gly171=) single nucleotide variant Carney complex, type 1 [RCV001436683]|Hereditary cancer-predisposing syndrome [RCV002341954] Chr17:68524922 [GRCh38]
Chr17:66521063 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.21C>T (p.Ala7=) single nucleotide variant Carney complex, type 1 [RCV001437140]|Hereditary cancer-predisposing syndrome [RCV002432215] Chr17:68515420 [GRCh38]
Chr17:66511561 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.960T>G (p.Pro320=) single nucleotide variant Carney complex, type 1 [RCV001404808]|Hereditary cancer-predisposing syndrome [RCV002377619] Chr17:68529988 [GRCh38]
Chr17:66526129 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1116G>A (p.Gln372=) single nucleotide variant Carney complex, type 1 [RCV001426230]|Hereditary cancer-predisposing syndrome [RCV003298724] Chr17:68530419 [GRCh38]
Chr17:66526560 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.178-7C>A single nucleotide variant Carney complex, type 1 [RCV001479594] Chr17:68522749 [GRCh38]
Chr17:66518890 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.84A>G (p.Gln28=) single nucleotide variant Carney complex, type 1 [RCV001435668] Chr17:68515483 [GRCh38]
Chr17:66511624 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1331C>T (p.Thr444Met) single nucleotide variant not provided [RCV001520149] Chr17:68420216 [GRCh38]
Chr17:66416357 [GRCh37]
Chr17:17q24.2		 benign
NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002254496] Chr17:68539955 [GRCh38]
Chr17:66536096 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_017565.4(FAM20A):c.1294G>T (p.Ala432Ser) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005017169]|Hereditary cancer-predisposing syndrome [RCV002257280]|Inborn genetic diseases [RCV003269148] Chr17:68539892 [GRCh38]
Chr17:66536033 [GRCh37]
Chr17:17q24.2		 benign|uncertain significance
NM_017565.4(FAM20A):c.758A>G (p.Tyr253Cys) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002255775] Chr17:68543683 [GRCh38]
Chr17:66539824 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NC_000017.11:g.68534268_68541798del deletion Amelogenesis imperfecta type 1G [RCV002255776] Chr17:68534265..68541795 [GRCh38]
Chr17:66530406..66537936 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.-6-4G>T single nucleotide variant Carney complex, type 1 [RCV003094251]|Hereditary cancer-predisposing syndrome [RCV002258613] Chr17:68515390 [GRCh38]
Chr17:66511531 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.550-14C>T single nucleotide variant Carney complex, type 1 [RCV003109107] Chr17:68525740 [GRCh38]
Chr17:66521881 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1219+2T>C single nucleotide variant Amelogenesis imperfecta type 1G [RCV001781077] Chr17:68540847 [GRCh38]
Chr17:66536988 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_001276290.1(PRKAR1A):c.1012T>G (p.Ter338Glu) single nucleotide variant Carney complex, type 1 [RCV005370181]|Hereditary cancer-predisposing syndrome [RCV002257279] Chr17:68551122 [GRCh38]
Chr17:66547263 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.196C>G (p.Gln66Glu) single nucleotide variant Carney complex, type 1 [RCV005095902]|Hereditary cancer-predisposing syndrome [RCV002257323] Chr17:68522774 [GRCh38]
Chr17:66518915 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.998G>A (p.Arg333His) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV001789593]|Carney complex, type 1 [RCV001789592] Chr17:68530301 [GRCh38]
Chr17:66526442 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.62A>G (p.Tyr21Cys) single nucleotide variant Carney complex, type 1 [RCV003626685]|Hereditary cancer-predisposing syndrome [RCV004040267]|not provided [RCV001763846] Chr17:68515461 [GRCh38]
Chr17:66511602 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.502+3A>C single nucleotide variant Carney complex, type 1 [RCV003514517]|not provided [RCV001756609] Chr17:68524080 [GRCh38]
Chr17:66520221 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.891+1G>A single nucleotide variant Carney complex, type 1 [RCV005023721]|PRKAR1A-related disorder [RCV004798098] Chr17:68528992 [GRCh38]
Chr17:66525133 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.718dup (p.Leu240fs) duplication Carney complex, type 1 [RCV001874471] Chr17:68527848..68527849 [GRCh38]
Chr17:66523989..66523990 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.593G>A (p.Gly198Glu) single nucleotide variant Carney complex, type 1 [RCV002025713] Chr17:68525797 [GRCh38]
Chr17:66521938 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.550G>A (p.Val184Ile) single nucleotide variant Carney complex, type 1 [RCV001929103]|Carney complex, type 1 [RCV002479447]|Hereditary cancer-predisposing syndrome [RCV004945809] Chr17:68525754 [GRCh38]
Chr17:66521895 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1418C>T (p.Ala473Val) single nucleotide variant not provided [RCV001871133]|not specified [RCV004040672] Chr17:68420303 [GRCh38]
Chr17:66416444 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1001C>T (p.Pro334Leu) single nucleotide variant Carney complex, type 1 [RCV001930042] Chr17:68530304 [GRCh38]
Chr17:66526445 [GRCh37]
Chr17:17q24.2		 uncertain significance
NC_000017.10:g.(?_66508520)_(66519077_?)dup duplication Carney complex, type 1 [RCV002020681] Chr17:66508520..66519077 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.955G>A (p.Gly319Arg) single nucleotide variant Carney complex, type 1 [RCV002004287] Chr17:68529983 [GRCh38]
Chr17:66526124 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1552del (p.Ile518fs) deletion not provided [RCV002017106] Chr17:68420435 [GRCh38]
Chr17:66416576 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1340A>G (p.Glu447Gly) single nucleotide variant not provided [RCV002024128] Chr17:68420225 [GRCh38]
Chr17:66416366 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.177+4A>G single nucleotide variant Carney complex, type 1 [RCV001969470] Chr17:68515580 [GRCh38]
Chr17:66511721 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.545dup (p.Asp183fs) duplication Carney complex, type 1 [RCV002007161] Chr17:68524953..68524954 [GRCh38]
Chr17:66521094..66521095 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_017565.4(FAM20A):c.721C>T (p.Gln241Ter) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005014741]|not provided [RCV001864435] Chr17:68543720 [GRCh38]
Chr17:66539861 [GRCh37]
Chr17:17q24.2		 pathogenic|likely pathogenic
NM_002734.5(PRKAR1A):c.478G>T (p.Ala160Ser) single nucleotide variant Carney complex, type 1 [RCV001966120]|Hereditary cancer-predisposing syndrome [RCV003375498] Chr17:68524053 [GRCh38]
Chr17:66520194 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.763A>G (p.Ile255Val) single nucleotide variant Carney complex, type 1 [RCV001969051]|Hereditary cancer-predisposing syndrome [RCV002388958] Chr17:68527894 [GRCh38]
Chr17:66524035 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.385G>A (p.Ala129Thr) single nucleotide variant Carney complex, type 1 [RCV001893086]|Hereditary cancer-predisposing syndrome [RCV002359365] Chr17:68523761 [GRCh38]
Chr17:66519902 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1501G>A (p.Ala501Thr) single nucleotide variant not provided [RCV002031460]|not specified [RCV004044837] Chr17:68420386 [GRCh38]
Chr17:66416527 [GRCh37]
Chr17:17q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_017565.4(FAM20A):c.812+4G>C single nucleotide variant not provided [RCV001998460] Chr17:68543625 [GRCh38]
Chr17:66539766 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.178-20A>T single nucleotide variant Carney complex, type 1 [RCV001947010] Chr17:68522736 [GRCh38]
Chr17:66518877 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.748C>T (p.Leu250Phe) single nucleotide variant Carney complex, type 1 [RCV001945892]|Hereditary cancer-predisposing syndrome [RCV002388867] Chr17:68527879 [GRCh38]
Chr17:66524020 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.973+20C>G single nucleotide variant Carney complex, type 1 [RCV002042816] Chr17:68530021 [GRCh38]
Chr17:66526162 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.974-15C>T single nucleotide variant Carney complex, type 1 [RCV001965780] Chr17:68530262 [GRCh38]
Chr17:66526403 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.440+15_440+16delinsGC indel Carney complex, type 1 [RCV001965858] Chr17:68523831..68523832 [GRCh38]
Chr17:66519972..66519973 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.481G>A (p.Gly161Arg) single nucleotide variant Carney complex, type 1 [RCV001894575]|Hereditary cancer-predisposing syndrome [RCV003303250] Chr17:68524056 [GRCh38]
Chr17:66520197 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.116G>T (p.Cys39Phe) single nucleotide variant Carney complex, type 1 [RCV001894207]|Hereditary cancer-predisposing syndrome [RCV003375378] Chr17:68515515 [GRCh38]
Chr17:66511656 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.691T>C (p.Tyr231His) single nucleotide variant Carney complex, type 1 [RCV001926722]|Carney complex, type 1 [RCV002491940] Chr17:68525895 [GRCh38]
Chr17:66522036 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1054C>G (p.Arg352Gly) single nucleotide variant Carney complex, type 1 [RCV001895460] Chr17:68530357 [GRCh38]
Chr17:66526498 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_212471.3(PRKAR1A):c.-7+91G>T single nucleotide variant not provided [RCV001824512] Chr17:68512233 [GRCh38]
Chr17:66508374 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.118A>G (p.Thr40Ala) single nucleotide variant Carney complex, type 1 [RCV001892567]|Hereditary cancer-predisposing syndrome [RCV002334802] Chr17:68515517 [GRCh38]
Chr17:66511658 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.97G>A (p.Asp33Asn) single nucleotide variant Carney complex, type 1 [RCV002024253]|Hereditary cancer-predisposing syndrome [RCV003303659] Chr17:68515496 [GRCh38]
Chr17:66511637 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1438C>T (p.Pro480Ser) single nucleotide variant not provided [RCV002000379] Chr17:68420323 [GRCh38]
Chr17:66416464 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1448G>T (p.Arg483Ile) single nucleotide variant not provided [RCV002023345] Chr17:68420333 [GRCh38]
Chr17:66416474 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1560C>A (p.Cys520Ter) single nucleotide variant not provided [RCV002049044] Chr17:68420445 [GRCh38]
Chr17:66416586 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.741G>C (p.Glu247Asp) single nucleotide variant Carney complex, type 1 [RCV001962348]|Hereditary cancer-predisposing syndrome [RCV003382738] Chr17:68527872 [GRCh38]
Chr17:66524013 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.760T>G (p.Ser254Ala) single nucleotide variant Carney complex, type 1 [RCV001944054] Chr17:68527891 [GRCh38]
Chr17:66524032 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.10_11delinsTT (p.Gly4Phe) indel Carney complex, type 1 [RCV002038024] Chr17:68515409..68515410 [GRCh38]
Chr17:66511550..66511551 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.440+4G>C single nucleotide variant Carney complex, type 1 [RCV001867409] Chr17:68523820 [GRCh38]
Chr17:66519961 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.584G>C (p.Gly195Ala) single nucleotide variant Carney complex, type 1 [RCV001886614] Chr17:68525788 [GRCh38]
Chr17:66521929 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.563A>G (p.Asn188Ser) single nucleotide variant Carney complex, type 1 [RCV001975748]|Hereditary cancer-predisposing syndrome [RCV002344144] Chr17:68525767 [GRCh38]
Chr17:66521908 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.98A>G (p.Asp33Gly) single nucleotide variant Carney complex, type 1 [RCV001977235] Chr17:68515497 [GRCh38]
Chr17:66511638 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.-14G>T single nucleotide variant Carney complex, type 1 [RCV001992946] Chr17:68512541 [GRCh38]
Chr17:66508682 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.-15C>T single nucleotide variant Carney complex, type 1 [RCV001887431] Chr17:68512540 [GRCh38]
Chr17:66508681 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.694A>G (p.Arg232Gly) single nucleotide variant Carney complex, type 1 [RCV001887957]|Hereditary cancer-predisposing syndrome [RCV002370367] Chr17:68525898 [GRCh38]
Chr17:66522039 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.908T>G (p.Leu303Arg) single nucleotide variant Carney complex, type 1 [RCV002014929] Chr17:68529936 [GRCh38]
Chr17:66526077 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.200A>G (p.Asn67Ser) single nucleotide variant Carney complex, type 1 [RCV002014263]|Hereditary cancer-predisposing syndrome [RCV002423255] Chr17:68522778 [GRCh38]
Chr17:66518919 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1307G>A (p.Gly436Glu) single nucleotide variant not provided [RCV001925964] Chr17:68420192 [GRCh38]
Chr17:66416333 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.907C>G (p.Leu303Val) single nucleotide variant Carney complex, type 1 [RCV002050603] Chr17:68529935 [GRCh38]
Chr17:66526076 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.76A>G (p.Asn26Asp) single nucleotide variant Carney complex, type 1 [RCV001933690]|Hereditary cancer-predisposing syndrome [RCV002397929] Chr17:68515475 [GRCh38]
Chr17:66511616 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.842A>G (p.Lys281Arg) single nucleotide variant Carney complex, type 1 [RCV001876436] Chr17:68528942 [GRCh38]
Chr17:66525083 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1330A>G (p.Thr444Ala) single nucleotide variant not provided [RCV001934483] Chr17:68420215 [GRCh38]
Chr17:66416356 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.304G>A (p.Ala102Thr) single nucleotide variant Carney complex, type 1 [RCV002015728]|Hereditary cancer-predisposing syndrome [RCV003170523] Chr17:68522882 [GRCh38]
Chr17:66519023 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1012G>A (p.Gly338Ser) single nucleotide variant not provided [RCV001907808] Chr17:68542082 [GRCh38]
Chr17:66538223 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1169G>A (p.Ser390Asn) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002492197]|not provided [RCV001970798] Chr17:68540899 [GRCh38]
Chr17:66537040 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.905T>C (p.Val302Ala) single nucleotide variant Carney complex, type 1 [RCV001881245] Chr17:68529933 [GRCh38]
Chr17:66526074 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1121A>G (p.Asn374Ser) single nucleotide variant Carney complex, type 1 [RCV001978824] Chr17:68530424 [GRCh38]
Chr17:66526565 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.807G>A (p.Leu269=) single nucleotide variant not provided [RCV001883874] Chr17:68543634 [GRCh38]
Chr17:66539775 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.992T>G (p.Met331Arg) single nucleotide variant Carney complex, type 1 [RCV001866679] Chr17:68530295 [GRCh38]
Chr17:66526436 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.549+20A>G single nucleotide variant Carney complex, type 1 [RCV001955073]|Carney complex, type 1 [RCV002503662] Chr17:68524978 [GRCh38]
Chr17:66521119 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.652A>G (p.Lys218Glu) single nucleotide variant Carney complex, type 1 [RCV002026397]|Hereditary cancer-predisposing syndrome [RCV002361399] Chr17:68525856 [GRCh38]
Chr17:66521997 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.244A>T (p.Ile82Phe) single nucleotide variant Carney complex, type 1 [RCV001922170] Chr17:68522822 [GRCh38]
Chr17:66518963 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1545del (p.Tyr516fs) deletion not provided [RCV001917423] Chr17:68420428 [GRCh38]
Chr17:66416569 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.556G>A (p.Val186Ile) single nucleotide variant Carney complex, type 1 [RCV002047717] Chr17:68525760 [GRCh38]
Chr17:66521901 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1382_1387del (p.Asp461_Thr462del) deletion not provided [RCV001973827] Chr17:68420265..68420270 [GRCh38]
Chr17:66416406..66416411 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.929C>T (p.Ala310Val) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005023378]|not provided [RCV001891089] Chr17:68542165 [GRCh38]
Chr17:66538306 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1550A>C (p.Gln517Pro) single nucleotide variant not provided [RCV001918333] Chr17:68420435 [GRCh38]
Chr17:66416576 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.110A>C (p.Gln37Pro) single nucleotide variant Carney complex, type 1 [RCV001883158] Chr17:68515509 [GRCh38]
Chr17:66511650 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.502+1G>C single nucleotide variant Carney complex, type 1 [RCV001924995] Chr17:68524078 [GRCh38]
Chr17:66520219 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_001267727.2(ARSG):c.1351A>G (p.Lys451Glu) single nucleotide variant not provided [RCV001893575]|not specified [RCV005262592] Chr17:68420236 [GRCh38]
Chr17:66416377 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.502+1_502+2dup duplication Carney complex, type 1 [RCV002034262] Chr17:68524077..68524078 [GRCh38]
Chr17:66520218..66520219 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.757T>C (p.Tyr253His) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002490072]|not provided [RCV001900308] Chr17:68543684 [GRCh38]
Chr17:66539825 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.581T>A (p.Val194Asp) single nucleotide variant Carney complex, type 1 [RCV001956815] Chr17:68525785 [GRCh38]
Chr17:66521926 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.91C>T (p.Leu31Phe) single nucleotide variant Carney complex, type 1 [RCV001938562] Chr17:68515490 [GRCh38]
Chr17:66511631 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.298A>G (p.Ile100Val) single nucleotide variant Carney complex, type 1 [RCV001977127]|Hereditary cancer-predisposing syndrome [RCV003170274] Chr17:68522876 [GRCh38]
Chr17:66519017 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.120T>A (p.Thr40=) single nucleotide variant Carney complex, type 1 [RCV002036323] Chr17:68515519 [GRCh38]
Chr17:66511660 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.926A>G (p.Asn309Ser) single nucleotide variant Carney complex, type 1 [RCV001866496]|Hereditary cancer-predisposing syndrome [RCV004651740] Chr17:68529954 [GRCh38]
Chr17:66526095 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.479del (p.Ala160fs) deletion Carney complex, type 1 [RCV001880832] Chr17:68524054 [GRCh38]
Chr17:66520195 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.550-16G>T single nucleotide variant Carney complex, type 1 [RCV001960584] Chr17:68525738 [GRCh38]
Chr17:66521879 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.221_253del (p.Arg74_Pro84del) deletion Carney complex, type 1 [RCV001924171] Chr17:68522796..68522828 [GRCh38]
Chr17:66518937..66518969 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.367A>G (p.Lys123Glu) single nucleotide variant Carney complex, type 1 [RCV002026224] Chr17:68523743 [GRCh38]
Chr17:66519884 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1516G>A (p.Asp506Asn) single nucleotide variant not provided [RCV001970786] Chr17:68420401 [GRCh38]
Chr17:66416542 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.446T>C (p.Ile149Thr) single nucleotide variant Carney complex, type 1 [RCV001977261] Chr17:68524021 [GRCh38]
Chr17:66520162 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.611C>G (p.Ala204Gly) single nucleotide variant Carney complex, type 1 [RCV001977343] Chr17:68525815 [GRCh38]
Chr17:66521956 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1075C>T (p.Leu359Phe) single nucleotide variant Carney complex, type 1 [RCV001935813] Chr17:68530378 [GRCh38]
Chr17:66526519 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.38G>A (p.Arg13His) single nucleotide variant Carney complex, type 1 [RCV001884869]|Hereditary cancer-predisposing syndrome [RCV004041532]|not provided [RCV004774511] Chr17:68515437 [GRCh38]
Chr17:66511578 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.482G>C (p.Gly161Ala) single nucleotide variant Carney complex, type 1 [RCV002019856] Chr17:68524057 [GRCh38]
Chr17:66520198 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1367dup (p.Asn457fs) duplication not provided [RCV001979033] Chr17:68420248..68420249 [GRCh38]
Chr17:66416389..66416390 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.190_203del (p.Gln64fs) deletion Carney complex, type 1 [RCV002049514] Chr17:68522768..68522781 [GRCh38]
Chr17:66518909..66518922 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_001267727.2(ARSG):c.1315G>A (p.Ala439Thr) single nucleotide variant not provided [RCV001976872] Chr17:68420200 [GRCh38]
Chr17:66416341 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.892-15G>A single nucleotide variant Carney complex, type 1 [RCV001958687] Chr17:68529905 [GRCh38]
Chr17:66526046 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.758T>C (p.Val253Ala) single nucleotide variant Carney complex, type 1 [RCV001925877] Chr17:68527889 [GRCh38]
Chr17:66524030 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.440+1G>A single nucleotide variant Carney complex, type 1 [RCV001923659] Chr17:68523817 [GRCh38]
Chr17:66519958 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.97del (p.Asp33fs) deletion Carney complex, type 1 [RCV001900787] Chr17:68515496 [GRCh38]
Chr17:66511637 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.926_930del (p.Asn309fs) deletion Carney complex, type 1 [RCV001994583] Chr17:68529952..68529956 [GRCh38]
Chr17:66526093..66526097 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_017565.4(FAM20A):c.1055G>A (p.Arg352Lys) single nucleotide variant not provided [RCV001979949] Chr17:68542039 [GRCh38]
Chr17:66538180 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1415G>A (p.Gly472Asp) single nucleotide variant not provided [RCV001884796] Chr17:68420300 [GRCh38]
Chr17:66416441 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.124C>G (p.Arg42Gly) single nucleotide variant Carney complex, type 1 [RCV002029118] Chr17:68515523 [GRCh38]
Chr17:66511664 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.782A>T (p.Lys261Met) single nucleotide variant Carney complex, type 1 [RCV001992782]|Hereditary cancer-predisposing syndrome [RCV002407154] Chr17:68528882 [GRCh38]
Chr17:66525023 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.178-19A>G single nucleotide variant Carney complex, type 1 [RCV001953145] Chr17:68522737 [GRCh38]
Chr17:66518878 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.868G>A (p.Asp290Asn) single nucleotide variant Carney complex, type 1 [RCV002026583] Chr17:68528968 [GRCh38]
Chr17:66525109 [GRCh37]
Chr17:17q24.2		 uncertain significance
NC_000017.10:g.(?_66303635)_(66596807_?)dup duplication not provided [RCV001918933] Chr17:66303635..66596807 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1070G>C (p.Arg357Pro) single nucleotide variant Carney complex, type 1 [RCV001934471] Chr17:68530373 [GRCh38]
Chr17:66526514 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.542A>G (p.Glu181Gly) single nucleotide variant Carney complex, type 1 [RCV001879731]|Hereditary cancer-predisposing syndrome [RCV005262566] Chr17:68524951 [GRCh38]
Chr17:66521092 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.629del (p.Pro210fs) deletion Carney complex, type 1 [RCV001972455] Chr17:68525832 [GRCh38]
Chr17:66521973 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.503-13dup duplication Carney complex, type 1 [RCV002206697]|Carney complex, type 1 [RCV002494108]|not provided [RCV003443006] Chr17:68524893..68524894 [GRCh38]
Chr17:66521034..66521035 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_001267727.2(ARSG):c.1572C>T (p.Ala524=) single nucleotide variant not provided [RCV002197767] Chr17:68420457 [GRCh38]
Chr17:66416598 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1512T>C (p.Thr504=) single nucleotide variant not provided [RCV002198136] Chr17:68420397 [GRCh38]
Chr17:66416538 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.441-14TC[2] microsatellite Carney complex, type 1 [RCV002105018] Chr17:68524002..68524003 [GRCh38]
Chr17:66520143..66520144 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1113G>A (p.Gln371=) single nucleotide variant Carney complex, type 1 [RCV002108329]|Hereditary cancer-predisposing syndrome [RCV002434539] Chr17:68530416 [GRCh38]
Chr17:66526557 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.349-20G>C single nucleotide variant Carney complex, type 1 [RCV002170019] Chr17:68523705 [GRCh38]
Chr17:66519846 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.349-12G>A single nucleotide variant Carney complex, type 1 [RCV002168423] Chr17:68523713 [GRCh38]
Chr17:66519854 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.973+14C>A single nucleotide variant Carney complex, type 1 [RCV002091384] Chr17:68530015 [GRCh38]
Chr17:66526156 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1360C>T (p.Leu454=) single nucleotide variant not provided [RCV002173452] Chr17:68420245 [GRCh38]
Chr17:66416386 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.440+14C>A single nucleotide variant Carney complex, type 1 [RCV002109698] Chr17:68523830 [GRCh38]
Chr17:66519971 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.349-19dup duplication Carney complex, type 1 [RCV002091748] Chr17:68523705..68523706 [GRCh38]
Chr17:66519846..66519847 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.440+10G>A single nucleotide variant Carney complex, type 1 [RCV002106512] Chr17:68523826 [GRCh38]
Chr17:66519967 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.549+14A>G single nucleotide variant Carney complex, type 1 [RCV002149230] Chr17:68524972 [GRCh38]
Chr17:66521113 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.503-7C>G single nucleotide variant Carney complex, type 1 [RCV002104795] Chr17:68524905 [GRCh38]
Chr17:66521046 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.349-17C>T single nucleotide variant Carney complex, type 1 [RCV002110069] Chr17:68523708 [GRCh38]
Chr17:66519849 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.231A>C (p.Ser77=) single nucleotide variant Carney complex, type 1 [RCV002087400] Chr17:68522809 [GRCh38]
Chr17:66518950 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.549+18C>A single nucleotide variant Carney complex, type 1 [RCV002187700] Chr17:68524976 [GRCh38]
Chr17:66521117 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001276290.1(PRKAR1A):c.989C>G (p.Ser330Ter) single nucleotide variant not provided [RCV002224382] Chr17:68551099 [GRCh38]
Chr17:66547240 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_017565.4(FAM20A):c.1472C>T (p.Thr491Ile) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002500003]|not provided [RCV002117742] Chr17:68537631 [GRCh38]
Chr17:66533772 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.417A>C (p.Ser139=) single nucleotide variant Carney complex, type 1 [RCV002084762] Chr17:68523793 [GRCh38]
Chr17:66519934 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.178-18A>G single nucleotide variant Carney complex, type 1 [RCV002124567] Chr17:68522738 [GRCh38]
Chr17:66518879 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.441-11C>T single nucleotide variant Carney complex, type 1 [RCV002107805] Chr17:68524005 [GRCh38]
Chr17:66520146 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.852G>T (p.Val284=) single nucleotide variant Carney complex, type 1 [RCV002205507] Chr17:68528952 [GRCh38]
Chr17:66525093 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1464C>T (p.Asp488=) single nucleotide variant not provided [RCV002164014] Chr17:68420349 [GRCh38]
Chr17:66416490 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1131G>A (p.Val377=) single nucleotide variant Carney complex, type 1 [RCV002167359]|Hereditary cancer-predisposing syndrome [RCV002324525] Chr17:68530434 [GRCh38]
Chr17:66526575 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.804T>C (p.Ala268=) single nucleotide variant Carney complex, type 1 [RCV002166326] Chr17:68528904 [GRCh38]
Chr17:66525045 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.702C>T (p.Ile234=) single nucleotide variant Carney complex, type 1 [RCV002147820] Chr17:68525906 [GRCh38]
Chr17:66522047 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1158G>A (p.Pro386=) single nucleotide variant not provided [RCV002173015] Chr17:68540910 [GRCh38]
Chr17:66537051 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.891+17T>A single nucleotide variant Carney complex, type 1 [RCV002109727] Chr17:68529008 [GRCh38]
Chr17:66525149 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.349-14C>T single nucleotide variant Carney complex, type 1 [RCV002108384] Chr17:68523711 [GRCh38]
Chr17:66519852 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.549+12C>T single nucleotide variant Carney complex, type 1 [RCV002148315] Chr17:68524970 [GRCh38]
Chr17:66521111 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.502+18A>G single nucleotide variant Carney complex, type 1 [RCV002185400] Chr17:68524095 [GRCh38]
Chr17:66520236 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1386C>T (p.Thr462=) single nucleotide variant not provided [RCV002101993] Chr17:68420271 [GRCh38]
Chr17:66416412 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.396T>C (p.Ile132=) single nucleotide variant Carney complex, type 1 [RCV002152415]|Hereditary cancer-predisposing syndrome [RCV004046355] Chr17:68523772 [GRCh38]
Chr17:66519913 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.603A>G (p.Gly201=) single nucleotide variant Carney complex, type 1 [RCV002170719] Chr17:68525807 [GRCh38]
Chr17:66521948 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.974-17A>G single nucleotide variant Carney complex, type 1 [RCV002114568] Chr17:68530260 [GRCh38]
Chr17:66526401 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.984T>C (p.Ala328=) single nucleotide variant Amelogenesis imperfecta type 1G [RCV002494066]|FAM20A-related disorder [RCV003941316]|not provided [RCV002175109] Chr17:68542110 [GRCh38]
Chr17:66538251 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.550-17T>C single nucleotide variant Carney complex, type 1 [RCV002075171] Chr17:68525737 [GRCh38]
Chr17:66521878 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1023T>C (p.Ala341=) single nucleotide variant Carney complex, type 1 [RCV002115470]|Hereditary cancer-predisposing syndrome [RCV002372932] Chr17:68530326 [GRCh38]
Chr17:66526467 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.708+7G>A single nucleotide variant Carney complex, type 1 [RCV002171406] Chr17:68525919 [GRCh38]
Chr17:66522060 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1301+7T>A single nucleotide variant not provided [RCV002206298] Chr17:68539878 [GRCh38]
Chr17:66536019 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.764T>C (p.Ile255Thr) single nucleotide variant not provided [RCV002085526] Chr17:68543677 [GRCh38]
Chr17:66539818 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.502+14G>T single nucleotide variant Carney complex, type 1 [RCV002097661] Chr17:68524091 [GRCh38]
Chr17:66520232 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.928+16G>A single nucleotide variant Amelogenesis imperfecta type 1G [RCV002499917]|not provided [RCV002102653] Chr17:68542678 [GRCh38]
Chr17:66538819 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.769+15del deletion Carney complex, type 1 [RCV002173114] Chr17:68527915 [GRCh38]
Chr17:66524056 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.502+12_502+13del deletion Carney complex, type 1 [RCV002095990]|Carney complex, type 1 [RCV002486872] Chr17:68524089..68524090 [GRCh38]
Chr17:66520230..66520231 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.178-16T>A single nucleotide variant Carney complex, type 1 [RCV002134240] Chr17:68522740 [GRCh38]
Chr17:66518881 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.169T>C (p.Leu57=) single nucleotide variant Carney complex, type 1 [RCV002106564]|Hereditary cancer-predisposing syndrome [RCV002409560] Chr17:68515568 [GRCh38]
Chr17:66511709 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.892-14T>G single nucleotide variant Carney complex, type 1 [RCV002089692] Chr17:68529906 [GRCh38]
Chr17:66526047 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-7+6T>G single nucleotide variant Carney complex, type 1 [RCV002130650] Chr17:68512554 [GRCh38]
Chr17:66508695 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.708+13G>A single nucleotide variant Carney complex, type 1 [RCV002095639] Chr17:68525925 [GRCh38]
Chr17:66522066 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.57G>A (p.Glu19=) single nucleotide variant Carney complex, type 1 [RCV002214783]|Hereditary cancer-predisposing syndrome [RCV002352809] Chr17:68515456 [GRCh38]
Chr17:66511597 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.503-18T>A single nucleotide variant Carney complex, type 1 [RCV002095914] Chr17:68524894 [GRCh38]
Chr17:66521035 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.770-14T>C single nucleotide variant Carney complex, type 1 [RCV002174144] Chr17:68528856 [GRCh38]
Chr17:66524997 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.502+14G>C single nucleotide variant Carney complex, type 1 [RCV002208461]|not provided [RCV004703252] Chr17:68524091 [GRCh38]
Chr17:66520232 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.708+11A>G single nucleotide variant Carney complex, type 1 [RCV002092986] Chr17:68525923 [GRCh38]
Chr17:66522064 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.348+18A>G single nucleotide variant Carney complex, type 1 [RCV002185319] Chr17:68522944 [GRCh38]
Chr17:66519085 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.891+12A>G single nucleotide variant Carney complex, type 1 [RCV002112998] Chr17:68529003 [GRCh38]
Chr17:66525144 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.709-10T>A single nucleotide variant Carney complex, type 1 [RCV002087432] Chr17:68527830 [GRCh38]
Chr17:66523971 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1166A>G (p.Asn389Ser) single nucleotide variant Inborn genetic diseases [RCV004976207]|not provided [RCV002099794] Chr17:68540902 [GRCh38]
Chr17:66537043 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-7+7G>C single nucleotide variant Carney complex, type 1 [RCV002113047] Chr17:68512555 [GRCh38]
Chr17:66508696 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.336C>A (p.Ser112=) single nucleotide variant Carney complex, type 1 [RCV002093614]|Hereditary cancer-predisposing syndrome [RCV002454429] Chr17:68522914 [GRCh38]
Chr17:66519055 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.348+17A>T single nucleotide variant Carney complex, type 1 [RCV002195898] Chr17:68522943 [GRCh38]
Chr17:66519084 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.348+13T>C single nucleotide variant Carney complex, type 1 [RCV002171637] Chr17:68522939 [GRCh38]
Chr17:66519080 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.550-13A>G single nucleotide variant Carney complex, type 1 [RCV002082853] Chr17:68525741 [GRCh38]
Chr17:66521882 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.348+20_348+21del microsatellite Carney complex, type 1 [RCV002220131] Chr17:68522944..68522945 [GRCh38]
Chr17:66519085..66519086 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.769+15G>T single nucleotide variant Carney complex, type 1 [RCV002175581] Chr17:68527915 [GRCh38]
Chr17:66524056 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.974-19C>T single nucleotide variant Carney complex, type 1 [RCV002198439] Chr17:68530258 [GRCh38]
Chr17:66526399 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.440+7A>G single nucleotide variant Carney complex, type 1 [RCV002083384]|not provided [RCV004706308] Chr17:68523823 [GRCh38]
Chr17:66519964 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.441-8T>C single nucleotide variant Carney complex, type 1 [RCV002183304] Chr17:68524008 [GRCh38]
Chr17:66520149 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.502+20G>A single nucleotide variant Carney complex, type 1 [RCV002143338] Chr17:68524097 [GRCh38]
Chr17:66520238 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.709-9del deletion Carney complex, type 1 [RCV002118485] Chr17:68527827 [GRCh38]
Chr17:66523968 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.709-18T>C single nucleotide variant Carney complex, type 1 [RCV002178206] Chr17:68527822 [GRCh38]
Chr17:66523963 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.503-16T>C single nucleotide variant Carney complex, type 1 [RCV002164283] Chr17:68524896 [GRCh38]
Chr17:66521037 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.709-12T>G single nucleotide variant Carney complex, type 1 [RCV002164601] Chr17:68527828 [GRCh38]
Chr17:66523969 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.633A>G (p.Arg211=) single nucleotide variant Carney complex, type 1 [RCV002162598]|Hereditary cancer-predisposing syndrome [RCV002363622] Chr17:68525837 [GRCh38]
Chr17:66521978 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.282G>A (p.Arg94=) single nucleotide variant Carney complex, type 1 [RCV002083173]|Hereditary cancer-predisposing syndrome [RCV002434465] Chr17:68522860 [GRCh38]
Chr17:66519001 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.973+14C>T single nucleotide variant Carney complex, type 1 [RCV002202854] Chr17:68530015 [GRCh38]
Chr17:66526156 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.372A>C (p.Thr124=) single nucleotide variant Carney complex, type 1 [RCV002123102]|Hereditary cancer-predisposing syndrome [RCV002346487] Chr17:68523748 [GRCh38]
Chr17:66519889 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.440+17_440+20del microsatellite Carney complex, type 1 [RCV002135979] Chr17:68523829..68523832 [GRCh38]
Chr17:66519970..66519973 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.440+11G>C single nucleotide variant Carney complex, type 1 [RCV002102347] Chr17:68523827 [GRCh38]
Chr17:66519968 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.502+19T>C single nucleotide variant Carney complex, type 1 [RCV002082592] Chr17:68524096 [GRCh38]
Chr17:66520237 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.709-8A>C single nucleotide variant Carney complex, type 1 [RCV002099950] Chr17:68527832 [GRCh38]
Chr17:66523973 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.441-15T>C single nucleotide variant Carney complex, type 1 [RCV002119492] Chr17:68524001 [GRCh38]
Chr17:66520142 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.612T>C (p.Ala204=) single nucleotide variant Carney complex, type 1 [RCV002157980]|Hereditary cancer-predisposing syndrome [RCV002352873] Chr17:68525816 [GRCh38]
Chr17:66521957 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.718C>T (p.Leu240=) single nucleotide variant Carney complex, type 1 [RCV002139840] Chr17:68527849 [GRCh38]
Chr17:66523990 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.975T>C (p.Gly325=) single nucleotide variant Carney complex, type 1 [RCV002081667] Chr17:68530278 [GRCh38]
Chr17:66526419 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.974-12T>G single nucleotide variant Carney complex, type 1 [RCV002141589] Chr17:68530265 [GRCh38]
Chr17:66526406 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.178-4T>C single nucleotide variant Carney complex, type 1 [RCV002217449] Chr17:68522752 [GRCh38]
Chr17:66518893 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.178-14G>A single nucleotide variant Carney complex, type 1 [RCV002120482] Chr17:68522742 [GRCh38]
Chr17:66518883 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.450T>C (p.Phe150=) single nucleotide variant Carney complex, type 1 [RCV002184082]|Hereditary cancer-predisposing syndrome [RCV003308039] Chr17:68524025 [GRCh38]
Chr17:66520166 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.177+12T>G single nucleotide variant Carney complex, type 1 [RCV002101183] Chr17:68515588 [GRCh38]
Chr17:66511729 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.210A>G (p.Lys70=) single nucleotide variant Carney complex, type 1 [RCV002182825] Chr17:68522788 [GRCh38]
Chr17:66518929 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.770-7C>T single nucleotide variant Carney complex, type 1 [RCV003110620] Chr17:68528863 [GRCh38]
Chr17:66525004 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.467T>G (p.Val156Gly) single nucleotide variant Carney complex, type 1 [RCV003116204] Chr17:68524042 [GRCh38]
Chr17:66520183 [GRCh37]
Chr17:17q24.2		 uncertain significance
NC_000017.10:g.(?_66508520)_(66508699_?)del deletion Carney complex, type 1 [RCV003122611] Chr17:66508520..66508699 [GRCh37]
Chr17:17q24.2		 uncertain significance
NC_000017.10:g.(?_66518887)_(66519967_?)del deletion Carney complex, type 1 [RCV003122612] Chr17:66518887..66519967 [GRCh37]
Chr17:17q24.2		 pathogenic
NC_000017.10:g.(?_66508520)_(66548013_?)del deletion Carney complex, type 1 [RCV003122613] Chr17:66508520..66548013 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_017983.7(WIPI1):c.722G>A (p.Ser241Asn) single nucleotide variant not specified [RCV004678500] Chr17:68433546 [GRCh38]
Chr17:66429687 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1109+3_1109+7delinsTGGTC indel Amelogenesis imperfecta type 1G [RCV002254495] Chr17:68541978..68541982 [GRCh38]
Chr17:66538119..66538123 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_001276290.1(PRKAR1A):c.987C>A (p.Ile329=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257281] Chr17:68551097 [GRCh38]
Chr17:66547238 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.283A>G (p.Arg95Gly) single nucleotide variant Carney complex, type 1 [RCV002296911] Chr17:68522861 [GRCh38]
Chr17:66519002 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.79A>G (p.Ile27Val) single nucleotide variant Carney complex, type 1 [RCV003099809]|Hereditary cancer-predisposing syndrome [RCV002419132] Chr17:68515478 [GRCh38]
Chr17:66511619 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.929-11_929-3del deletion not provided [RCV002280047] Chr17:68542168..68542176 [GRCh38]
Chr17:66538309..66538317 [GRCh37]
Chr17:17q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_002734.5(PRKAR1A):c.-2C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435619] Chr17:68515398 [GRCh38]
Chr17:66511539 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.663G>T (p.Val221=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366799] Chr17:68525867 [GRCh38]
Chr17:66522008 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.541G>A (p.Glu181Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349483] Chr17:68524950 [GRCh38]
Chr17:66521091 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.974_981delinsCAAA (p.Gly325fs) indel Hereditary cancer-predisposing syndrome [RCV002387082] Chr17:68530277..68530284 [GRCh38]
Chr17:66526418..66526425 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.339T>C (p.Tyr113=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452008] Chr17:68522917 [GRCh38]
Chr17:66519058 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.810A>T (p.Ala270=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419510] Chr17:68528910 [GRCh38]
Chr17:66525051 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1447del (p.Glu483fs) deletion Amelogenesis imperfecta type 1G [RCV005017177]|not provided [RCV002267276] Chr17:68537656 [GRCh38]
Chr17:66533797 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.963T>C (p.Ser321=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385369] Chr17:68529991 [GRCh38]
Chr17:66526132 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.807T>C (p.Asp269=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419400] Chr17:68528907 [GRCh38]
Chr17:66525048 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1125T>C (p.Ser375=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436006] Chr17:68530428 [GRCh38]
Chr17:66526569 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.95A>G (p.Lys32Arg) single nucleotide variant Carney complex, type 1 [RCV003094837]|Hereditary cancer-predisposing syndrome [RCV002385278] Chr17:68515494 [GRCh38]
Chr17:66511635 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.501A>C (p.Gln167His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351389] Chr17:68524076 [GRCh38]
Chr17:66520217 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.973+1G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387062] Chr17:68530002 [GRCh38]
Chr17:66526143 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.258A>G (p.Pro86=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452881] Chr17:68522836 [GRCh38]
Chr17:66518977 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.378C>A (p.Ala126=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351196] Chr17:68523754 [GRCh38]
Chr17:66519895 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.550-4T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351691] Chr17:68525750 [GRCh38]
Chr17:66521891 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.201T>A (p.Asn67Lys) single nucleotide variant Carney complex, type 1 [RCV003101014]|Hereditary cancer-predisposing syndrome [RCV002419563] Chr17:68522779 [GRCh38]
Chr17:66518920 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.337T>G (p.Tyr113Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451824] Chr17:68522915 [GRCh38]
Chr17:66519056 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.798G>C (p.Thr266=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419078] Chr17:68528898 [GRCh38]
Chr17:66525039 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.985C>T (p.Leu329=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387325] Chr17:68530288 [GRCh38]
Chr17:66526429 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.675C>T (p.Gly225=) single nucleotide variant Carney complex, type 1 [RCV003626741]|Hereditary cancer-predisposing syndrome [RCV002369254] Chr17:68525879 [GRCh38]
Chr17:66522020 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.187A>G (p.Lys63Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415269] Chr17:68522765 [GRCh38]
Chr17:66518906 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.433G>A (p.Glu145Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332187] Chr17:68523809 [GRCh38]
Chr17:66519950 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.857G>A (p.Gly286Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414493] Chr17:68528957 [GRCh38]
Chr17:66525098 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.12C>A (p.Gly4=) single nucleotide variant Carney complex, type 1 [RCV005097416]|Hereditary cancer-predisposing syndrome [RCV002380773] Chr17:68515411 [GRCh38]
Chr17:66511552 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.826T>C (p.Phe276Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430218] Chr17:68528926 [GRCh38]
Chr17:66525067 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1102C>G (p.Arg368Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455751] Chr17:68530405 [GRCh38]
Chr17:66526546 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.473T>G (p.Phe158Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335517] Chr17:68524048 [GRCh38]
Chr17:66520189 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.479C>T (p.Ala160Val) single nucleotide variant Carney complex, type 1 [RCV002304195] Chr17:68524054 [GRCh38]
Chr17:66520195 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.918G>T (p.Arg306=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378921] Chr17:68529946 [GRCh38]
Chr17:66526087 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.85G>C (p.Ala29Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447988] Chr17:68515484 [GRCh38]
Chr17:66511625 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.771G>A (p.Glu257=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400676] Chr17:68528871 [GRCh38]
Chr17:66525012 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.837G>A (p.Gly279=) single nucleotide variant Carney complex, type 1 [RCV003776497]|Hereditary cancer-predisposing syndrome [RCV002434809] Chr17:68528937 [GRCh38]
Chr17:66525078 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.105T>C (p.Ile35=) single nucleotide variant Carney complex, type 1 [RCV003626770]|Hereditary cancer-predisposing syndrome [RCV002407695] Chr17:68515504 [GRCh38]
Chr17:66511645 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.594G>T (p.Gly198=) single nucleotide variant Carney complex, type 1 [RCV003098077]|Hereditary cancer-predisposing syndrome [RCV002355982] Chr17:68525798 [GRCh38]
Chr17:66521939 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.267A>T (p.Pro89=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428878] Chr17:68522845 [GRCh38]
Chr17:66518986 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1045A>C (p.Lys349Gln) single nucleotide variant Carney complex, type 1 [RCV003626762]|Hereditary cancer-predisposing syndrome [RCV002405337] Chr17:68530348 [GRCh38]
Chr17:66526489 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.620A>T (p.Tyr207Phe) single nucleotide variant Carney complex, type 1 [RCV003098166]|Hereditary cancer-predisposing syndrome [RCV002353864] Chr17:68525824 [GRCh38]
Chr17:66521965 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.349-5T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459066] Chr17:68523720 [GRCh38]
Chr17:66519861 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.581T>G (p.Val194Gly) single nucleotide variant Carney complex, type 1 [RCV002300315] Chr17:68525785 [GRCh38]
Chr17:66521926 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.684A>T (p.Arg228=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362101] Chr17:68525888 [GRCh38]
Chr17:66522029 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.990G>C (p.Leu330=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382798] Chr17:68530293 [GRCh38]
Chr17:66526434 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.862C>T (p.Pro288Ser) single nucleotide variant Carney complex, type 1 [RCV003099989]|Hereditary cancer-predisposing syndrome [RCV002371165] Chr17:68528962 [GRCh38]
Chr17:66525103 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.864A>G (p.Pro288=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371209] Chr17:68528964 [GRCh38]
Chr17:66525105 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.227A>G (p.Asp76Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446048] Chr17:68522805 [GRCh38]
Chr17:66518946 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.952T>C (p.Leu318=) single nucleotide variant Carney complex, type 1 [RCV003626753]|Hereditary cancer-predisposing syndrome [RCV002374251] Chr17:68529980 [GRCh38]
Chr17:66526121 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1128T>C (p.Phe376=) single nucleotide variant Carney complex, type 1 [RCV003099187]|Hereditary cancer-predisposing syndrome [RCV002325829] Chr17:68530431 [GRCh38]
Chr17:66526572 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.108G>T (p.Val36=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446139] Chr17:68515507 [GRCh38]
Chr17:66511648 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.858A>C (p.Gly286=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447913] Chr17:68528958 [GRCh38]
Chr17:66525099 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.44T>C (p.Leu15Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328694] Chr17:68515443 [GRCh38]
Chr17:66511584 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.583G>C (p.Gly195Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353279] Chr17:68525787 [GRCh38]
Chr17:66521928 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.198G>T (p.Gln66His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423817] Chr17:68522776 [GRCh38]
Chr17:66518917 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1047G>A (p.Lys349=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398306] Chr17:68530350 [GRCh38]
Chr17:66526491 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.763A>C (p.Ile255Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396338] Chr17:68527894 [GRCh38]
Chr17:66524035 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.999T>C (p.Arg333=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383083] Chr17:68530302 [GRCh38]
Chr17:66526443 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.246T>A (p.Ile82=) single nucleotide variant Carney complex, type 1 [RCV003101857]|Hereditary cancer-predisposing syndrome [RCV002455542]|not provided [RCV003418528] Chr17:68522824 [GRCh38]
Chr17:66518965 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.717A>G (p.Thr239=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378421] Chr17:68527848 [GRCh38]
Chr17:66523989 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.134G>A (p.Arg45Lys) single nucleotide variant Carney complex, type 1 [RCV003120992]|Hereditary cancer-predisposing syndrome [RCV002387917] Chr17:68515533 [GRCh38]
Chr17:66511674 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.502+4A>G single nucleotide variant Carney complex, type 1 [RCV005058400]|Hereditary cancer-predisposing syndrome [RCV002335570] Chr17:68524081 [GRCh38]
Chr17:66520222 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.207G>A (p.Gln69=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422285] Chr17:68522785 [GRCh38]
Chr17:66518926 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-5G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357986] Chr17:68515395 [GRCh38]
Chr17:66511536 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.408G>T (p.Val136=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323217] Chr17:68523784 [GRCh38]
Chr17:66519925 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.96A>G (p.Lys32=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376629] Chr17:68515495 [GRCh38]
Chr17:66511636 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.907C>T (p.Leu303=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378576] Chr17:68529935 [GRCh38]
Chr17:66526076 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1011C>A (p.Ala337=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326331] Chr17:68530314 [GRCh38]
Chr17:66526455 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.3(PRKAR1A):c.349delG deletion Hereditary cancer-predisposing syndrome [RCV002459110] Chr17:68523724 [GRCh38]
Chr17:66519865 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.974-3C>T single nucleotide variant Carney complex, type 1 [RCV003626755]|Hereditary cancer-predisposing syndrome [RCV002376752] Chr17:68530274 [GRCh38]
Chr17:66526415 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.492G>A (p.Val164=) single nucleotide variant Carney complex, type 1 [RCV003626726]|Hereditary cancer-predisposing syndrome [RCV002340754] Chr17:68524067 [GRCh38]
Chr17:66520208 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1133C>A (p.Ser378Ter) single nucleotide variant not specified [RCV002302495] Chr17:68530436 [GRCh38]
Chr17:66526577 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.39C>G (p.Arg13=) single nucleotide variant Carney complex, type 1 [RCV005096454]|Hereditary cancer-predisposing syndrome [RCV002375625] Chr17:68515438 [GRCh38]
Chr17:66511579 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.534T>C (p.Asp178=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346967] Chr17:68524943 [GRCh38]
Chr17:66521084 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.821T>A (p.Val274Glu) single nucleotide variant Carney complex, type 1 [RCV003776488]|Hereditary cancer-predisposing syndrome [RCV002427990] Chr17:68528921 [GRCh38]
Chr17:66525062 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.341T>C (p.Val114Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456929] Chr17:68522919 [GRCh38]
Chr17:66519060 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.304G>C (p.Ala102Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444099] Chr17:68522882 [GRCh38]
Chr17:66519023 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.913C>T (p.Arg305Cys) single nucleotide variant Carney complex, type 1 [RCV003774153]|Hereditary cancer-predisposing syndrome [RCV002378761] Chr17:68529941 [GRCh38]
Chr17:66526082 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.424G>C (p.Asp142His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329849] Chr17:68523800 [GRCh38]
Chr17:66519941 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.230C>T (p.Ser77Leu) single nucleotide variant Carney complex, type 1 [RCV002302870] Chr17:68522808 [GRCh38]
Chr17:66518949 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.231A>G (p.Ser77=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457551] Chr17:68522809 [GRCh38]
Chr17:66518950 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.229T>A (p.Ser77Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457542] Chr17:68522807 [GRCh38]
Chr17:66518948 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.687C>T (p.Asp229=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362221] Chr17:68525891 [GRCh38]
Chr17:66522032 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.440+4G>A single nucleotide variant Carney complex, type 1 [RCV003094680]|Hereditary cancer-predisposing syndrome [RCV002333753] Chr17:68523820 [GRCh38]
Chr17:66519961 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.1092C>T (p.Asp364=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448139] Chr17:68530395 [GRCh38]
Chr17:66526536 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.432T>C (p.Asn144=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332115] Chr17:68523808 [GRCh38]
Chr17:66519949 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.110A>T (p.Gln37Leu) single nucleotide variant Carney complex, type 1 [RCV003626795]|Hereditary cancer-predisposing syndrome [RCV002428890] Chr17:68515509 [GRCh38]
Chr17:66511650 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.215_226del (p.Gly72_Thr75del) deletion Carney complex, type 1 [RCV005097971]|Hereditary cancer-predisposing syndrome [RCV002432454] Chr17:68522790..68522801 [GRCh38]
Chr17:66518931..66518942 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.737A>T (p.Tyr246Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380397] Chr17:68527868 [GRCh38]
Chr17:66524009 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.142G>A (p.Ala48Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392031] Chr17:68515541 [GRCh38]
Chr17:66511682 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.93C>G (p.Leu31=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373900] Chr17:68515492 [GRCh38]
Chr17:66511633 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.524A>T (p.Tyr175Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340936] Chr17:68524933 [GRCh38]
Chr17:66521074 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.708+4dup duplication Carney complex, type 1 [RCV003626744]|Hereditary cancer-predisposing syndrome [RCV002365134] Chr17:68525914..68525915 [GRCh38]
Chr17:66522055..66522056 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.824A>G (p.Gln275Arg) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV004572383]|Carney complex, type 1 [RCV003514567]|Hereditary cancer-predisposing syndrome [RCV002430143] Chr17:68528924 [GRCh38]
Chr17:66525065 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.411G>T (p.Leu137=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323498] Chr17:68523787 [GRCh38]
Chr17:66519928 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.384A>G (p.Leu128=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364106] Chr17:68523760 [GRCh38]
Chr17:66519901 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1064T>G (p.Phe355Cys) single nucleotide variant Carney complex, type 1 [RCV003626775]|Hereditary cancer-predisposing syndrome [RCV002413022] Chr17:68530367 [GRCh38]
Chr17:66526508 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.564T>C (p.Asn188=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002345194] Chr17:68525768 [GRCh38]
Chr17:66521909 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.958C>A (p.Pro320Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374339] Chr17:68529986 [GRCh38]
Chr17:66526127 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.682C>A (p.Arg228=) single nucleotide variant Carney complex, type 1 [RCV003626742]|Hereditary cancer-predisposing syndrome [RCV002369639] Chr17:68525886 [GRCh38]
Chr17:66522027 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.929A>C (p.Glu310Ala) single nucleotide variant Carney complex, type 1 [RCV002302356] Chr17:68529957 [GRCh38]
Chr17:66526098 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.995_1000delinsTGA (p.Asn332_Pro334delinsMetThr) indel Hereditary cancer-predisposing syndrome [RCV002382927] Chr17:68530298..68530303 [GRCh38]
Chr17:66526439..66526444 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.225A>G (p.Thr75=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443677] Chr17:68522803 [GRCh38]
Chr17:66518944 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.322G>A (p.Glu108Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324721] Chr17:68522900 [GRCh38]
Chr17:66519041 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.138C>G (p.Pro46=) single nucleotide variant Carney complex, type 1 [RCV003626759]|Hereditary cancer-predisposing syndrome [RCV002396629] Chr17:68515537 [GRCh38]
Chr17:66511678 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1109+11C>G single nucleotide variant not provided [RCV002776262] Chr17:68541974 [GRCh38]
Chr17:66538115 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.667T>C (p.Leu223=) single nucleotide variant Carney complex, type 1 [RCV002994637] Chr17:68525871 [GRCh38]
Chr17:66522012 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.885C>A (p.Val295=) single nucleotide variant not provided [RCV002726403] Chr17:68542737 [GRCh38]
Chr17:66538878 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1502G>A (p.Arg501Lys) single nucleotide variant not provided [RCV003014533] Chr17:68537601 [GRCh38]
Chr17:66533742 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.349-20G>A single nucleotide variant Carney complex, type 1 [RCV002858423] Chr17:68523705 [GRCh38]
Chr17:66519846 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.786G>A (p.Trp262Ter) single nucleotide variant Carney complex, type 1 [RCV002862618] Chr17:68528886 [GRCh38]
Chr17:66525027 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.463T>C (p.Ser155Pro) single nucleotide variant Carney complex, type 1 [RCV002750387] Chr17:68524038 [GRCh38]
Chr17:66520179 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.591A>T (p.Gly197=) single nucleotide variant Carney complex, type 1 [RCV003074914] Chr17:68525795 [GRCh38]
Chr17:66521936 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.178-15C>T single nucleotide variant Carney complex, type 1 [RCV002904632] Chr17:68522741 [GRCh38]
Chr17:66518882 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1310C>T (p.Ala437Val) single nucleotide variant not provided [RCV002751358]|not specified [RCV004067970] Chr17:68420195 [GRCh38]
Chr17:66416336 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.770-11T>C single nucleotide variant Carney complex, type 1 [RCV003014557] Chr17:68528859 [GRCh38]
Chr17:66525000 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.909A>G (p.Leu303=) single nucleotide variant Carney complex, type 1 [RCV002751395]|Hereditary cancer-predisposing syndrome [RCV004067974] Chr17:68529937 [GRCh38]
Chr17:66526078 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.212C>T (p.Ala71Val) single nucleotide variant Carney complex, type 1 [RCV002995557] Chr17:68522790 [GRCh38]
Chr17:66518931 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.785C>A (p.Ala262Asp) single nucleotide variant not provided [RCV002839068] Chr17:68543656 [GRCh38]
Chr17:66539797 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.502+9C>T single nucleotide variant Carney complex, type 1 [RCV003074825] Chr17:68524086 [GRCh38]
Chr17:66520227 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017983.7(WIPI1):c.616G>A (p.Glu206Lys) single nucleotide variant not specified [RCV004137814] Chr17:68435625 [GRCh38]
Chr17:66431766 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.550-5T>A single nucleotide variant Carney complex, type 1 [RCV002795129] Chr17:68525749 [GRCh38]
Chr17:66521890 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.334T>C (p.Ser112Pro) single nucleotide variant Carney complex, type 1 [RCV002819200] Chr17:68522912 [GRCh38]
Chr17:66519053 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.550-19G>A single nucleotide variant Carney complex, type 1 [RCV003076668] Chr17:68525735 [GRCh38]
Chr17:66521876 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017983.7(WIPI1):c.793A>G (p.Thr265Ala) single nucleotide variant not specified [RCV004152019] Chr17:68433475 [GRCh38]
Chr17:66429616 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1118A>C (p.Tyr373Ser) single nucleotide variant not provided [RCV002461716] Chr17:68530421 [GRCh38]
Chr17:66526562 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.492G>T (p.Val164=) single nucleotide variant Carney complex, type 1 [RCV002618871] Chr17:68524067 [GRCh38]
Chr17:66520208 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1573G>C (p.Ala525Pro) single nucleotide variant not provided [RCV002994180] Chr17:68420458 [GRCh38]
Chr17:66416599 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1574C>T (p.Ala525Val) single nucleotide variant not provided [RCV002970921]|not specified [RCV004068155] Chr17:68420459 [GRCh38]
Chr17:66416600 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1406A>G (p.Glu469Gly) single nucleotide variant not provided [RCV002816283] Chr17:68420291 [GRCh38]
Chr17:66416432 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1071C>T (p.Asn357=) single nucleotide variant not provided [RCV002904729] Chr17:68542023 [GRCh38]
Chr17:66538164 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017983.7(WIPI1):c.922C>T (p.Arg308Cys) single nucleotide variant not specified [RCV004084790] Chr17:68430039 [GRCh38]
Chr17:66426180 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.769+19T>G single nucleotide variant Carney complex, type 1 [RCV002837894] Chr17:68527919 [GRCh38]
Chr17:66524060 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.550-18A>C single nucleotide variant Carney complex, type 1 [RCV003032557] Chr17:68525736 [GRCh38]
Chr17:66521877 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1381T>C (p.Leu461=) single nucleotide variant not provided [RCV002996479] Chr17:68537722 [GRCh38]
Chr17:66533863 [GRCh37]
Chr17:17q24.2		 benign|likely benign
NM_002734.5(PRKAR1A):c.348+16G>A single nucleotide variant Carney complex, type 1 [RCV002996663] Chr17:68522942 [GRCh38]
Chr17:66519083 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1301+15G>A single nucleotide variant not provided [RCV002755846] Chr17:68539870 [GRCh38]
Chr17:66536011 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.10G>T (p.Gly4Cys) single nucleotide variant Carney complex, type 1 [RCV003034997] Chr17:68515409 [GRCh38]
Chr17:66511550 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.441-20A>G single nucleotide variant Carney complex, type 1 [RCV002839178] Chr17:68523996 [GRCh38]
Chr17:66520137 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.463T>G (p.Ser155Ala) single nucleotide variant Carney complex, type 1 [RCV002996620] Chr17:68524038 [GRCh38]
Chr17:66520179 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.550-16G>A single nucleotide variant Carney complex, type 1 [RCV002871399] Chr17:68525738 [GRCh38]
Chr17:66521879 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.502+2T>G single nucleotide variant Carney complex, type 1 [RCV002870847] Chr17:68524079 [GRCh38]
Chr17:66520220 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.549+9T>C single nucleotide variant Carney complex, type 1 [RCV003003089] Chr17:68524967 [GRCh38]
Chr17:66521108 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.550-12C>T single nucleotide variant Carney complex, type 1 [RCV002953608] Chr17:68525742 [GRCh38]
Chr17:66521883 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.349-13A>G single nucleotide variant Carney complex, type 1 [RCV002870924] Chr17:68523712 [GRCh38]
Chr17:66519853 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.488C>G (p.Thr163Ser) single nucleotide variant Carney complex, type 1 [RCV002621190] Chr17:68524063 [GRCh38]
Chr17:66520204 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.974-4C>T single nucleotide variant Carney complex, type 1 [RCV002953742] Chr17:68530273 [GRCh38]
Chr17:66526414 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1161C>T (p.Tyr387=) single nucleotide variant not provided [RCV002593380] Chr17:68540907 [GRCh38]
Chr17:66537048 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.240T>C (p.Asp80=) single nucleotide variant Carney complex, type 1 [RCV003021053] Chr17:68522818 [GRCh38]
Chr17:66518959 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.549+23del deletion Carney complex, type 1 [RCV002953503] Chr17:68524977 [GRCh38]
Chr17:66521118 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.273T>G (p.Val91=) single nucleotide variant Carney complex, type 1 [RCV002824848] Chr17:68522851 [GRCh38]
Chr17:66518992 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.177+12T>C single nucleotide variant Carney complex, type 1 [RCV002638192] Chr17:68515588 [GRCh38]
Chr17:66511729 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.594G>A (p.Gly198=) single nucleotide variant Carney complex, type 1 [RCV003020473] Chr17:68525798 [GRCh38]
Chr17:66521939 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.550-11T>C single nucleotide variant Carney complex, type 1 [RCV003017985] Chr17:68525743 [GRCh38]
Chr17:66521884 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.763_766del (p.Ser254_Ile255insTer) deletion Carney complex, type 1 [RCV002885197] Chr17:68527893..68527896 [GRCh38]
Chr17:66524034..66524037 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.-7+7G>A single nucleotide variant Carney complex, type 1 [RCV003021316] Chr17:68512555 [GRCh38]
Chr17:66508696 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.268G>A (p.Val90Met) single nucleotide variant Carney complex, type 1 [RCV002622536]|Hereditary cancer-predisposing syndrome [RCV003308197] Chr17:68522846 [GRCh38]
Chr17:66518987 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.760G>A (p.Glu254Lys) single nucleotide variant not specified [RCV004225736] Chr17:68433508 [GRCh38]
Chr17:66429649 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1518C>A (p.Asp506Glu) single nucleotide variant not provided [RCV003021420] Chr17:68420403 [GRCh38]
Chr17:66416544 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.177+16G>A single nucleotide variant Carney complex, type 1 [RCV002886292] Chr17:68515592 [GRCh38]
Chr17:66511733 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.827T>G (p.Phe276Cys) single nucleotide variant Carney complex, type 1 [RCV002796145] Chr17:68528927 [GRCh38]
Chr17:66525068 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1316C>T (p.Ala439Val) single nucleotide variant not provided [RCV003018214] Chr17:68420201 [GRCh38]
Chr17:66416342 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.366C>T (p.Tyr122=) single nucleotide variant Carney complex, type 1 [RCV002781562]|Hereditary cancer-predisposing syndrome [RCV004661477] Chr17:68523742 [GRCh38]
Chr17:66519883 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1519C>A (p.Pro507Thr) single nucleotide variant not provided [RCV003053549] Chr17:68420404 [GRCh38]
Chr17:66416545 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1357T>C (p.Cys453Arg) single nucleotide variant Inborn genetic diseases [RCV002912223] Chr17:68539341 [GRCh38]
Chr17:66535482 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.1046G>A (p.Gly349Glu) single nucleotide variant not specified [RCV004153886] Chr17:68428856 [GRCh38]
Chr17:66424997 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1051G>A (p.Asp351Asn) single nucleotide variant not specified [RCV002510362] Chr17:68530354 [GRCh38]
Chr17:66526495 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.440+16T>C single nucleotide variant Carney complex, type 1 [RCV002705476] Chr17:68523832 [GRCh38]
Chr17:66519973 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.973+8T>G single nucleotide variant Carney complex, type 1 [RCV003100568] Chr17:68530009 [GRCh38]
Chr17:66526150 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.348+7T>C single nucleotide variant Carney complex, type 1 [RCV002790340] Chr17:68522933 [GRCh38]
Chr17:66519074 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.973+6T>C single nucleotide variant Carney complex, type 1 [RCV002627183] Chr17:68530007 [GRCh38]
Chr17:66526148 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.180G>A (p.Glu60=) single nucleotide variant Carney complex, type 1 [RCV002668036]|Hereditary cancer-predisposing syndrome [RCV003375666]|not provided [RCV003228095] Chr17:68522758 [GRCh38]
Chr17:66518899 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_017983.7(WIPI1):c.917C>T (p.Thr306Ile) single nucleotide variant not specified [RCV004110656] Chr17:68430044 [GRCh38]
Chr17:66426185 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.891+18T>C single nucleotide variant Carney complex, type 1 [RCV003005737] Chr17:68529009 [GRCh38]
Chr17:66525150 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.797C>A (p.Thr266Lys) single nucleotide variant not provided [RCV002508629] Chr17:68528897 [GRCh38]
Chr17:66525038 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.-11C>G single nucleotide variant Carney complex, type 1 [RCV003006454] Chr17:68512544 [GRCh38]
Chr17:66508685 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.958C>T (p.Pro320Ser) single nucleotide variant Carney complex, type 1 [RCV002667264] Chr17:68529986 [GRCh38]
Chr17:66526127 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.503-10C>T single nucleotide variant Carney complex, type 1 [RCV002933405] Chr17:68524902 [GRCh38]
Chr17:66521043 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.352A>G (p.Ile118Val) single nucleotide variant Carney complex, type 1 [RCV002624379]|Hereditary cancer-predisposing syndrome [RCV004070769] Chr17:68523728 [GRCh38]
Chr17:66519869 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1286T>C (p.Leu429Pro) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005019555]|Inborn genetic diseases [RCV004068496]|not provided [RCV003005398] Chr17:68539900 [GRCh38]
Chr17:66536041 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.957G>A (p.Gly319=) single nucleotide variant Carney complex, type 1 [RCV002828934]|Hereditary cancer-predisposing syndrome [RCV004946069] Chr17:68529985 [GRCh38]
Chr17:66526126 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1467C>T (p.Val489=) single nucleotide variant not provided [RCV002928913] Chr17:68420352 [GRCh38]
Chr17:66416493 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1004T>G (p.Leu335Arg) single nucleotide variant Inborn genetic diseases [RCV002699150] Chr17:68542090 [GRCh38]
Chr17:66538231 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.984A>T (p.Ala328=) single nucleotide variant Carney complex, type 1 [RCV003082104] Chr17:68530287 [GRCh38]
Chr17:66526428 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1361+7T>C single nucleotide variant not provided [RCV002594964] Chr17:68539330 [GRCh38]
Chr17:66535471 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.663G>A (p.Val221=) single nucleotide variant Carney complex, type 1 [RCV003057739] Chr17:68525867 [GRCh38]
Chr17:66522008 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-7G>T single nucleotide variant Carney complex, type 1 [RCV002914745] Chr17:68512548 [GRCh38]
Chr17:66508689 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.348+16G>C single nucleotide variant Carney complex, type 1 [RCV002890436] Chr17:68522942 [GRCh38]
Chr17:66519083 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-7+5G>A single nucleotide variant Carney complex, type 1 [RCV002593943] Chr17:68512553 [GRCh38]
Chr17:66508694 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.348+11dup duplication Carney complex, type 1 [RCV002663990] Chr17:68522936..68522937 [GRCh38]
Chr17:66519077..66519078 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1232G>A (p.Arg411Gln) single nucleotide variant not provided [RCV002574456] Chr17:68539954 [GRCh38]
Chr17:66536095 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.441-14_441-12del deletion Carney complex, type 1 [RCV002851053] Chr17:68524000..68524002 [GRCh38]
Chr17:66520141..66520143 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.162T>C (p.Phe54=) single nucleotide variant Carney complex, type 1 [RCV002931953] Chr17:68515561 [GRCh38]
Chr17:66511702 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.150C>T (p.Leu50=) single nucleotide variant Carney complex, type 1 [RCV002766289]|Hereditary cancer-predisposing syndrome [RCV004067917] Chr17:68515549 [GRCh38]
Chr17:66511690 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.178-11A>C single nucleotide variant Carney complex, type 1 [RCV002932038] Chr17:68522745 [GRCh38]
Chr17:66518886 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1564T>C (p.Cys522Arg) single nucleotide variant not provided [RCV002801547] Chr17:68420449 [GRCh38]
Chr17:66416590 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.775C>G (p.Leu259Val) single nucleotide variant Carney complex, type 1 [RCV003084306] Chr17:68528875 [GRCh38]
Chr17:66525016 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.975G>A (p.Thr325=) single nucleotide variant not provided [RCV002982439] Chr17:68542119 [GRCh38]
Chr17:66538260 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.177+10A>C single nucleotide variant Carney complex, type 1 [RCV002852582] Chr17:68515586 [GRCh38]
Chr17:66511727 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1038C>T (p.Ser346=) single nucleotide variant not provided [RCV002958115] Chr17:68542056 [GRCh38]
Chr17:66538197 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1220-7_1220-5del deletion not provided [RCV002914837] Chr17:68539971..68539973 [GRCh38]
Chr17:66536112..66536114 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1398G>T (p.Leu466=) single nucleotide variant not provided [RCV002932660] Chr17:68537705 [GRCh38]
Chr17:66533846 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.376G>A (p.Ala126Thr) single nucleotide variant Carney complex, type 1 [RCV002663389] Chr17:68523752 [GRCh38]
Chr17:66519893 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.702C>A (p.Ile234=) single nucleotide variant Carney complex, type 1 [RCV003007881] Chr17:68525906 [GRCh38]
Chr17:66522047 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.929-12C>T single nucleotide variant not provided [RCV002576015] Chr17:68542177 [GRCh38]
Chr17:66538318 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017983.7(WIPI1):c.832T>A (p.Tyr278Asn) single nucleotide variant not specified [RCV004167405] Chr17:68430129 [GRCh38]
Chr17:66426270 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.87G>T (p.Ala29=) single nucleotide variant Carney complex, type 1 [RCV002596190] Chr17:68515486 [GRCh38]
Chr17:66511627 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.953A>G (p.Lys318Arg) single nucleotide variant not provided [RCV002593898] Chr17:68542141 [GRCh38]
Chr17:66538282 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.649C>G (p.Pro217Ala) single nucleotide variant not specified [RCV004107037] Chr17:68434599 [GRCh38]
Chr17:66430740 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.116G>A (p.Cys39Tyr) single nucleotide variant Carney complex, type 1 [RCV002745280] Chr17:68515515 [GRCh38]
Chr17:66511656 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.178-19A>T single nucleotide variant Carney complex, type 1 [RCV002853030] Chr17:68522737 [GRCh38]
Chr17:66518878 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.974-4C>G single nucleotide variant Carney complex, type 1 [RCV003091953]|Hereditary cancer-predisposing syndrome [RCV004942978] Chr17:68530273 [GRCh38]
Chr17:66526414 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.441-2A>G single nucleotide variant Carney complex, type 1 [RCV003064483] Chr17:68524014 [GRCh38]
Chr17:66520155 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.163G>C (p.Glu55Gln) single nucleotide variant Carney complex, type 1 [RCV003091803]|Hereditary cancer-predisposing syndrome [RCV003384331] Chr17:68515562 [GRCh38]
Chr17:66511703 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1301+14C>T single nucleotide variant not provided [RCV002581481] Chr17:68539871 [GRCh38]
Chr17:66536012 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.178-14G>C single nucleotide variant Carney complex, type 1 [RCV003065403] Chr17:68522742 [GRCh38]
Chr17:66518883 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1589_1590inv (p.Leu530Ser) inversion not provided [RCV002675591] Chr17:68537513..68537514 [GRCh38]
Chr17:66533654..66533655 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.46C>G (p.Arg16Gly) single nucleotide variant Carney complex, type 1 [RCV003091914]|Hereditary cancer-predisposing syndrome [RCV003294497]|not provided [RCV004812469] Chr17:68515445 [GRCh38]
Chr17:66511586 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1440C>G (p.Pro480=) single nucleotide variant ARSG-related disorder [RCV003898811]|not provided [RCV002581927] Chr17:68420325 [GRCh38]
Chr17:66416466 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.992G>A (p.Gly331Asp) single nucleotide variant not provided [RCV003064486] Chr17:68542102 [GRCh38]
Chr17:66538243 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.770-12C>T single nucleotide variant Carney complex, type 1 [RCV002835075] Chr17:68528858 [GRCh38]
Chr17:66524999 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.348+15T>G single nucleotide variant Carney complex, type 1 [RCV003086768] Chr17:68522941 [GRCh38]
Chr17:66519082 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1565T>C (p.Ile522Thr) single nucleotide variant not provided [RCV002578901] Chr17:68537538 [GRCh38]
Chr17:66533679 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1431G>C (p.Met477Ile) single nucleotide variant Inborn genetic diseases [RCV004065072]|not provided [RCV002963249] Chr17:68537672 [GRCh38]
Chr17:66533813 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.474T>C (p.Phe158=) single nucleotide variant Carney complex, type 1 [RCV002629472] Chr17:68524049 [GRCh38]
Chr17:66520190 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-32_-16dup duplication Carney complex, type 1 [RCV003043993] Chr17:68512519..68512520 [GRCh38]
Chr17:66508660..66508661 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.198G>A (p.Gln66=) single nucleotide variant Carney complex, type 1 [RCV003027035] Chr17:68522776 [GRCh38]
Chr17:66518917 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1220-10T>C single nucleotide variant not provided [RCV003046911] Chr17:68539976 [GRCh38]
Chr17:66536117 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1561C>T (p.Arg521Cys) single nucleotide variant not provided [RCV002597558]|not specified [RCV004857903] Chr17:68420446 [GRCh38]
Chr17:66416587 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.877T>A (p.Phe293Ile) single nucleotide variant Carney complex, type 1 [RCV002856759] Chr17:68528977 [GRCh38]
Chr17:66525118 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_001267727.2(ARSG):c.1332G>A (p.Thr444=) single nucleotide variant not provided [RCV002601662] Chr17:68420217 [GRCh38]
Chr17:66416358 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.445A>T (p.Ile149Phe) single nucleotide variant Carney complex, type 1 [RCV003029177] Chr17:68524020 [GRCh38]
Chr17:66520161 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.441-16del deletion Carney complex, type 1 [RCV003046216] Chr17:68523999 [GRCh38]
Chr17:66520140 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1108_1109+1del microsatellite Amelogenesis imperfecta type 1G [RCV005370251]|not provided [RCV002598313] Chr17:68541984..68541986 [GRCh38]
Chr17:66538125..66538127 [GRCh37]
Chr17:17q24.2		 likely pathogenic|uncertain significance
NM_001267727.2(ARSG):c.1452G>C (p.Lys484Asn) single nucleotide variant not provided [RCV002720111] Chr17:68420337 [GRCh38]
Chr17:66416478 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.974-20C>A single nucleotide variant Carney complex, type 1 [RCV003090319] Chr17:68530257 [GRCh38]
Chr17:66526398 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.709-11T>G single nucleotide variant Carney complex, type 1 [RCV002938062] Chr17:68527829 [GRCh38]
Chr17:66523970 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1001C>A (p.Pro334His) single nucleotide variant Carney complex, type 1 [RCV002810811] Chr17:68530304 [GRCh38]
Chr17:66526445 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1545C>T (p.Ala515=) single nucleotide variant not provided [RCV002597648] Chr17:68537558 [GRCh38]
Chr17:66533699 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017983.7(WIPI1):c.1069C>T (p.His357Tyr) single nucleotide variant not specified [RCV004171621] Chr17:68428833 [GRCh38]
Chr17:66424974 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.502+4A>C single nucleotide variant Carney complex, type 1 [RCV003091883]|Hereditary cancer-predisposing syndrome [RCV004942977] Chr17:68524081 [GRCh38]
Chr17:66520222 [GRCh37]
Chr17:17q24.2		 benign|uncertain significance
NM_002734.5(PRKAR1A):c.1098C>A (p.Leu366=) single nucleotide variant Carney complex, type 1 [RCV003027961] Chr17:68530401 [GRCh38]
Chr17:66526542 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.513G>T (p.Gly171=) single nucleotide variant Carney complex, type 1 [RCV002939026]|Hereditary cancer-predisposing syndrome [RCV004067260] Chr17:68524922 [GRCh38]
Chr17:66521063 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.787G>T (p.Glu263Ter) single nucleotide variant Carney complex, type 1 [RCV003048792] Chr17:68528887 [GRCh38]
Chr17:66525028 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_017565.4(FAM20A):c.742C>T (p.Pro248Ser) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005028007]|not provided [RCV002895577] Chr17:68543699 [GRCh38]
Chr17:66539840 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.-7+7G>T single nucleotide variant Carney complex, type 1 [RCV002672268] Chr17:68512555 [GRCh38]
Chr17:66508696 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.178-12A>G single nucleotide variant Carney complex, type 1 [RCV002580379] Chr17:68522744 [GRCh38]
Chr17:66518885 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.502+7G>A single nucleotide variant Carney complex, type 1 [RCV002631346] Chr17:68524084 [GRCh38]
Chr17:66520225 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.989T>C (p.Leu330Pro) single nucleotide variant Carney complex, type 1 [RCV002604472] Chr17:68530292 [GRCh38]
Chr17:66526433 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.256C>T (p.Pro86Ser) single nucleotide variant Carney complex, type 1 [RCV002603382] Chr17:68522834 [GRCh38]
Chr17:66518975 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.389A>G (p.Lys130Arg) single nucleotide variant Carney complex, type 1 [RCV002602981] Chr17:68523765 [GRCh38]
Chr17:66519906 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.268G>C (p.Val90Leu) single nucleotide variant Carney complex, type 1 [RCV003052456] Chr17:68522846 [GRCh38]
Chr17:66518987 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.770-16G>A single nucleotide variant Carney complex, type 1 [RCV002605515] Chr17:68528854 [GRCh38]
Chr17:66524995 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.114G>A (p.Leu38=) single nucleotide variant Carney complex, type 1 [RCV002584177] Chr17:68515513 [GRCh38]
Chr17:66511654 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.796A>G (p.Thr266Ala) single nucleotide variant Carney complex, type 1 [RCV002814481] Chr17:68528896 [GRCh38]
Chr17:66525037 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1610C>T (p.Ala537Val) single nucleotide variant not provided [RCV002603087] Chr17:68537493 [GRCh38]
Chr17:66533634 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.502+18A>T single nucleotide variant Carney complex, type 1 [RCV002585627] Chr17:68524095 [GRCh38]
Chr17:66520236 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1306G>A (p.Gly436Arg) single nucleotide variant not provided [RCV002608186] Chr17:68539392 [GRCh38]
Chr17:66535533 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.932_933del (p.Glu311fs) microsatellite Carney complex, type 1 [RCV002611112]|Hereditary cancer-predisposing syndrome [RCV003377893] Chr17:68529958..68529959 [GRCh38]
Chr17:66526099..66526100 [GRCh37]
Chr17:17q24.2		 pathogenic|likely pathogenic
NM_002734.5(PRKAR1A):c.549+22_549+23dup duplication Carney complex, type 1 [RCV003051211] Chr17:68524976..68524977 [GRCh38]
Chr17:66521117..66521118 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1035G>A (p.Pro345=) single nucleotide variant not provided [RCV003068932] Chr17:68542059 [GRCh38]
Chr17:66538200 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1490A>C (p.Asn497Thr) single nucleotide variant not provided [RCV002589981] Chr17:68420375 [GRCh38]
Chr17:66416516 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.376G>T (p.Ala126Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296674] Chr17:68523752 [GRCh38]
Chr17:66519893 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.202C>G (p.Leu68Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296684] Chr17:68522780 [GRCh38]
Chr17:66518921 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.140T>C (p.Met47Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165332] Chr17:68515539 [GRCh38]
Chr17:66511680 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.140T>A (p.Met47Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003216337] Chr17:68515539 [GRCh38]
Chr17:66511680 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.926A>T (p.Asn309Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165334] Chr17:68529954 [GRCh38]
Chr17:66526095 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.738T>C (p.Tyr246=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165328] Chr17:68527869 [GRCh38]
Chr17:66524010 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1077T>G (p.Leu359=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165330] Chr17:68530380 [GRCh38]
Chr17:66526521 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.297T>A (p.Ala99=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165325] Chr17:68522875 [GRCh38]
Chr17:66519016 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1210T>C (p.Phe404Leu) single nucleotide variant Amelogenesis imperfecta type 1G [RCV003147166]|not provided [RCV003321981] Chr17:68540858 [GRCh38]
Chr17:66536999 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1361+1G>A single nucleotide variant Amelogenesis imperfecta type 1G [RCV003154872] Chr17:68539336 [GRCh38]
Chr17:66535477 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.123T>C (p.Ala41=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176540] Chr17:68515522 [GRCh38]
Chr17:66511663 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.537A>C (p.Gln179His) single nucleotide variant Carney complex, type 1 [RCV003626815]|Hereditary cancer-predisposing syndrome [RCV003176539] Chr17:68524946 [GRCh38]
Chr17:66521087 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1423G>A (p.Asp475Asn) single nucleotide variant Inborn genetic diseases [RCV003205987] Chr17:68537680 [GRCh38]
Chr17:66533821 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.984A>C (p.Ala328=) single nucleotide variant Carney complex, type 1 [RCV003626825]|Hereditary cancer-predisposing syndrome [RCV003204551] Chr17:68530287 [GRCh38]
Chr17:66526428 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.855G>A (p.Gln285=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165333] Chr17:68528955 [GRCh38]
Chr17:66525096 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.976_978del (p.Glu326del) deletion Amelogenesis imperfecta type 1G [RCV003154871] Chr17:68542116..68542118 [GRCh38]
Chr17:66538257..66538259 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1615T>G (p.Leu539Val) single nucleotide variant Inborn genetic diseases [RCV003215387] Chr17:68537488 [GRCh38]
Chr17:66533629 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.613T>G (p.Leu205Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165324] Chr17:68525817 [GRCh38]
Chr17:66521958 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1094T>C (p.Ile365Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165327] Chr17:68530397 [GRCh38]
Chr17:66526538 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.129T>G (p.Pro43=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165326] Chr17:68515528 [GRCh38]
Chr17:66511669 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.969T>C (p.Tyr323=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165329] Chr17:68529997 [GRCh38]
Chr17:66526138 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.897A>G (p.Ser299=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165331] Chr17:68529925 [GRCh38]
Chr17:66526066 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-6-1G>A single nucleotide variant not provided [RCV003323108] Chr17:68515393 [GRCh38]
Chr17:66511534 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.569G>A (p.Trp190Ter) single nucleotide variant not provided [RCV003325796] Chr17:68525773 [GRCh38]
Chr17:66521914 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.311T>A (p.Val104Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377744] Chr17:68522889 [GRCh38]
Chr17:66519030 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.835G>A (p.Gly279Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377745] Chr17:68528935 [GRCh38]
Chr17:66525076 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.891+2T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377746]|PRKAR1A-related disorder [RCV004731527] Chr17:68528993 [GRCh38]
Chr17:66525134 [GRCh37]
Chr17:17q24.2		 likely pathogenic|uncertain significance
NM_002734.5(PRKAR1A):c.271G>C (p.Val91Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377748] Chr17:68522849 [GRCh38]
Chr17:66518990 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.725A>C (p.Lys242Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377749] Chr17:68527856 [GRCh38]
Chr17:66523997 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.222T>G (p.Arg74=) single nucleotide variant Carney complex, type 1 [RCV005104220]|Hereditary cancer-predisposing syndrome [RCV003377750] Chr17:68522800 [GRCh38]
Chr17:66518941 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1429G>C (p.Ala477Pro) single nucleotide variant not provided [RCV003675450] Chr17:68420314 [GRCh38]
Chr17:66416455 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.59T>C (p.Leu20Pro) single nucleotide variant Carney complex, type 1 [RCV003880103] Chr17:68515458 [GRCh38]
Chr17:66511599 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.562A>T (p.Asn188Tyr) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV003463374]|Carney complex, type 1 [RCV003779077] Chr17:68525766 [GRCh38]
Chr17:66521907 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.917T>C (p.Phe306Ser) single nucleotide variant not provided [RCV003682287] Chr17:68542705 [GRCh38]
Chr17:66538846 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1361+15A>G single nucleotide variant not provided [RCV003671780] Chr17:68539322 [GRCh38]
Chr17:66535463 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1413_1429del (p.Gly472fs) deletion not provided [RCV003686867] Chr17:68420295..68420311 [GRCh38]
Chr17:66416436..66416452 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.939G>A (p.Val313=) single nucleotide variant not provided [RCV003687728] Chr17:68542155 [GRCh38]
Chr17:66538296 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1304-6C>T single nucleotide variant not provided [RCV003681720] Chr17:68420183 [GRCh38]
Chr17:66416324 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1301+8T>G single nucleotide variant not provided [RCV003683039] Chr17:68539877 [GRCh38]
Chr17:66536018 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1309C>T (p.Arg437Ter) single nucleotide variant not provided [RCV003665388] Chr17:68539389 [GRCh38]
Chr17:66535530 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_001267727.2(ARSG):c.1395T>C (p.Ala465=) single nucleotide variant not provided [RCV003693618] Chr17:68420280 [GRCh38]
Chr17:66416421 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1022C>G (p.Ala341Gly) single nucleotide variant Carney complex, type 1 [RCV003880399]|Hereditary cancer-predisposing syndrome [RCV004654373] Chr17:68530325 [GRCh38]
Chr17:66526466 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1572C>T (p.Asp524=) single nucleotide variant not provided [RCV003720507] Chr17:68537531 [GRCh38]
Chr17:66533672 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1484T>C (p.Leu495Pro) single nucleotide variant not provided [RCV003716642] Chr17:68537619 [GRCh38]
Chr17:66533760 [GRCh37]
Chr17:17q24.2		 uncertain significance
NC_000017.10:g.(?_66508519)_(66529573_?)dup duplication not specified [RCV003388343] Chr17:66508519..66529573 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1109+6T>G single nucleotide variant FAM20A-related disorder [RCV003392898] Chr17:68541979 [GRCh38]
Chr17:66538120 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.416C>T (p.Ser139Leu) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV003463377]|Carney complex, type 1 [RCV003514650] Chr17:68523792 [GRCh38]
Chr17:66519933 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.973+54G>A single nucleotide variant not provided [RCV003413320] Chr17:68530055 [GRCh38]
Chr17:66526196 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.*2934T>C single nucleotide variant not provided [RCV003413321] Chr17:68533383 [GRCh38]
Chr17:66529524 [GRCh37]
Chr17:17q24.2		 benign
NM_017565.4(FAM20A):c.1173G>A (p.Gln391=) single nucleotide variant not provided [RCV003428426] Chr17:68540895 [GRCh38]
Chr17:66537036 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1118A>G (p.Tyr373Cys) single nucleotide variant Carney complex, type 1 [RCV003516381] Chr17:68530421 [GRCh38]
Chr17:66526562 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.27T>C (p.Ser9=) single nucleotide variant Carney complex, type 1 [RCV003513877] Chr17:68515426 [GRCh38]
Chr17:66511567 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.195T>G (p.Ile65Met) single nucleotide variant Carney complex, type 1 [RCV003626400]|Hereditary cancer-predisposing syndrome [RCV004943194] Chr17:68522773 [GRCh38]
Chr17:66518914 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.918G>C (p.Arg306=) single nucleotide variant Carney complex, type 1 [RCV003628026] Chr17:68529946 [GRCh38]
Chr17:66526087 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.973+20C>A single nucleotide variant Carney complex, type 1 [RCV003626584] Chr17:68530021 [GRCh38]
Chr17:66526162 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.233G>C (p.Arg78Thr) single nucleotide variant Carney complex, type 1 [RCV003515498] Chr17:68522811 [GRCh38]
Chr17:66518952 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.455C>T (p.Ala152Val) single nucleotide variant Carney complex, type 1 [RCV003628519]|not provided [RCV004763744] Chr17:68524030 [GRCh38]
Chr17:66520171 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.709-15T>A single nucleotide variant Carney complex, type 1 [RCV003627041] Chr17:68527825 [GRCh38]
Chr17:66523966 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-12C>A single nucleotide variant Carney complex, type 1 [RCV003514266] Chr17:68512543 [GRCh38]
Chr17:66508684 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.111G>T (p.Gln37His) single nucleotide variant Carney complex, type 1 [RCV003516243] Chr17:68515510 [GRCh38]
Chr17:66511651 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.402G>C (p.Lys134Asn) single nucleotide variant Carney complex, type 1 [RCV003627452] Chr17:68523778 [GRCh38]
Chr17:66519919 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.428A>T (p.Asp143Val) single nucleotide variant Carney complex, type 1 [RCV003514912] Chr17:68523804 [GRCh38]
Chr17:66519945 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.892-8del deletion Carney complex, type 1 [RCV003514719] Chr17:68529909 [GRCh38]
Chr17:66526050 [GRCh37]
Chr17:17q24.2		 benign
NM_002734.5(PRKAR1A):c.296C>G (p.Ala99Gly) single nucleotide variant Carney complex, type 1 [RCV003516108] Chr17:68522874 [GRCh38]
Chr17:66519015 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.715A>G (p.Thr239Ala) single nucleotide variant Carney complex, type 1 [RCV003516379] Chr17:68527846 [GRCh38]
Chr17:66523987 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.948A>G (p.Gly316=) single nucleotide variant Carney complex, type 1 [RCV003516250] Chr17:68529976 [GRCh38]
Chr17:66526117 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1025G>T (p.Arg342Leu) single nucleotide variant Carney complex, type 1 [RCV003626124] Chr17:68530328 [GRCh38]
Chr17:66526469 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.987A>G (p.Leu329=) single nucleotide variant Carney complex, type 1 [RCV003516271]|Hereditary cancer-predisposing syndrome [RCV004369259] Chr17:68530290 [GRCh38]
Chr17:66526431 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.529A>C (p.Ile177Leu) single nucleotide variant Carney complex, type 1 [RCV003627805] Chr17:68524938 [GRCh38]
Chr17:66521079 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.957G>T (p.Gly319=) single nucleotide variant Carney complex, type 1 [RCV003627826] Chr17:68529985 [GRCh38]
Chr17:66526126 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1110-8C>A single nucleotide variant not provided [RCV003567779] Chr17:68540966 [GRCh38]
Chr17:66537107 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.891+15A>G single nucleotide variant Carney complex, type 1 [RCV003515241] Chr17:68529006 [GRCh38]
Chr17:66525147 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.796dup (p.Thr266fs) duplication Carney complex, type 1 [RCV003516380] Chr17:68528895..68528896 [GRCh38]
Chr17:66525036..66525037 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.732G>A (p.Lys244=) single nucleotide variant Carney complex, type 1 [RCV003513804] Chr17:68527863 [GRCh38]
Chr17:66524004 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.784T>C (p.Trp262Arg) single nucleotide variant Carney complex, type 1 [RCV003626273] Chr17:68528884 [GRCh38]
Chr17:66525025 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.243G>A (p.Glu81=) single nucleotide variant Carney complex, type 1 [RCV003627934] Chr17:68522821 [GRCh38]
Chr17:66518962 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.892-11T>C single nucleotide variant Carney complex, type 1 [RCV003628594] Chr17:68529909 [GRCh38]
Chr17:66526050 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.314A>T (p.Tyr105Phe) single nucleotide variant Carney complex, type 1 [RCV003514764] Chr17:68522892 [GRCh38]
Chr17:66519033 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.312C>T (p.Val104=) single nucleotide variant Carney complex, type 1 [RCV003513895] Chr17:68522890 [GRCh38]
Chr17:66519031 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-6A>G single nucleotide variant Carney complex, type 1 [RCV003514828] Chr17:68515394 [GRCh38]
Chr17:66511535 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.709-4T>G single nucleotide variant Carney complex, type 1 [RCV003626407] Chr17:68527836 [GRCh38]
Chr17:66523977 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.769+13G>A single nucleotide variant Carney complex, type 1 [RCV003514055] Chr17:68527913 [GRCh38]
Chr17:66524054 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.486G>C (p.Glu162Asp) single nucleotide variant Carney complex, type 1 [RCV003516098] Chr17:68524061 [GRCh38]
Chr17:66520202 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.-10C>G single nucleotide variant Carney complex, type 1 [RCV003515098] Chr17:68512545 [GRCh38]
Chr17:66508686 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.349-9C>G single nucleotide variant Carney complex, type 1 [RCV003515113] Chr17:68523716 [GRCh38]
Chr17:66519857 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1120A>G (p.Asn374Asp) single nucleotide variant Carney complex, type 1 [RCV003626510]|Hereditary cancer-predisposing syndrome [RCV004943200] Chr17:68530423 [GRCh38]
Chr17:66526564 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.757G>A (p.Val253Ile) single nucleotide variant Carney complex, type 1 [RCV003627344]|Hereditary cancer-predisposing syndrome [RCV004661750] Chr17:68527888 [GRCh38]
Chr17:66524029 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.868G>T (p.Asp290Tyr) single nucleotide variant Carney complex, type 1 [RCV003628086] Chr17:68528968 [GRCh38]
Chr17:66525109 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.708+4A>G single nucleotide variant Carney complex, type 1 [RCV003514823] Chr17:68525916 [GRCh38]
Chr17:66522057 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.58C>A (p.Leu20Ile) single nucleotide variant Carney complex, type 1 [RCV003515565]|Hereditary cancer-predisposing syndrome [RCV004368994] Chr17:68515457 [GRCh38]
Chr17:66511598 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.440+14C>G single nucleotide variant Carney complex, type 1 [RCV003516178] Chr17:68523830 [GRCh38]
Chr17:66519971 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.769+13G>C single nucleotide variant Carney complex, type 1 [RCV003515845] Chr17:68527913 [GRCh38]
Chr17:66524054 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.117C>T (p.Cys39=) single nucleotide variant Carney complex, type 1 [RCV003627492]|Hereditary cancer-predisposing syndrome [RCV004943223] Chr17:68515516 [GRCh38]
Chr17:66511657 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.809C>G (p.Ala270Gly) single nucleotide variant Carney complex, type 1 [RCV003628309] Chr17:68528909 [GRCh38]
Chr17:66525050 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.335C>T (p.Ser112Phe) single nucleotide variant Carney complex, type 1 [RCV003514961] Chr17:68522913 [GRCh38]
Chr17:66519054 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.348+9G>C single nucleotide variant Carney complex, type 1 [RCV003627609] Chr17:68522935 [GRCh38]
Chr17:66519076 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.708+20G>T single nucleotide variant Carney complex, type 1 [RCV003516529] Chr17:68525932 [GRCh38]
Chr17:66522073 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.716C>T (p.Thr239Ile) single nucleotide variant Carney complex, type 1 [RCV003627617] Chr17:68527847 [GRCh38]
Chr17:66523988 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1054C>T (p.Arg352Ter) single nucleotide variant Carney complex, type 1 [RCV003516295] Chr17:68530357 [GRCh38]
Chr17:66526498 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.441-20_441-19del deletion Carney complex, type 1 [RCV003626889] Chr17:68523995..68523996 [GRCh38]
Chr17:66520136..66520137 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.220C>G (p.Arg74Gly) single nucleotide variant Carney complex, type 1 [RCV003827899] Chr17:68522798 [GRCh38]
Chr17:66518939 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.709-8A>T single nucleotide variant Carney complex, type 1 [RCV003515104] Chr17:68527832 [GRCh38]
Chr17:66523973 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.40A>G (p.Ser14Gly) single nucleotide variant Carney complex, type 1 [RCV003515782] Chr17:68515439 [GRCh38]
Chr17:66511580 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1048C>T (p.Leu350=) single nucleotide variant Carney complex, type 1 [RCV003627734] Chr17:68530351 [GRCh38]
Chr17:66526492 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-9del deletion Carney complex, type 1 [RCV003514285] Chr17:68512543 [GRCh38]
Chr17:66508684 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.501A>G (p.Gln167=) single nucleotide variant Carney complex, type 1 [RCV003626116]|Hereditary cancer-predisposing syndrome [RCV004943185] Chr17:68524076 [GRCh38]
Chr17:66520217 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.550-19G>T single nucleotide variant Carney complex, type 1 [RCV003514121] Chr17:68525735 [GRCh38]
Chr17:66521876 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.131A>G (p.Glu44Gly) single nucleotide variant Carney complex, type 1 [RCV003627509] Chr17:68515530 [GRCh38]
Chr17:66511671 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.326A>G (p.Asp109Gly) single nucleotide variant Carney complex, type 1 [RCV003515329] Chr17:68522904 [GRCh38]
Chr17:66519045 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.708G>A (p.Met236Ile) single nucleotide variant Carney complex, type 1 [RCV003515818] Chr17:68525912 [GRCh38]
Chr17:66522053 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.440+11G>A single nucleotide variant Carney complex, type 1 [RCV003626470] Chr17:68523827 [GRCh38]
Chr17:66519968 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.708+19dup duplication Carney complex, type 1 [RCV003514921] Chr17:68525928..68525929 [GRCh38]
Chr17:66522069..66522070 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1242T>C (p.Tyr414=) single nucleotide variant not provided [RCV003559108] Chr17:68539944 [GRCh38]
Chr17:66536085 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.907_908del (p.Ser303fs) microsatellite Amelogenesis imperfecta type 1G [RCV005014750]|not provided [RCV003559245] Chr17:68542714..68542715 [GRCh38]
Chr17:66538855..66538856 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.709-15del deletion Carney complex, type 1 [RCV003515921] Chr17:68527824 [GRCh38]
Chr17:66523965 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.393C>T (p.Ala131=) single nucleotide variant Carney complex, type 1 [RCV003626178]|Hereditary cancer-predisposing syndrome [RCV004371865] Chr17:68523769 [GRCh38]
Chr17:66519910 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.709-13T>C single nucleotide variant Carney complex, type 1 [RCV003628498] Chr17:68527827 [GRCh38]
Chr17:66523968 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.998del (p.Arg333fs) deletion Carney complex, type 1 [RCV003628563] Chr17:68530301 [GRCh38]
Chr17:66526442 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.409C>T (p.Leu137=) single nucleotide variant Carney complex, type 1 [RCV003515043] Chr17:68523785 [GRCh38]
Chr17:66519926 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.503-6T>C single nucleotide variant Carney complex, type 1 [RCV003626286] Chr17:68524906 [GRCh38]
Chr17:66521047 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.801A>C (p.Val267=) single nucleotide variant Carney complex, type 1 [RCV003515546] Chr17:68528901 [GRCh38]
Chr17:66525042 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.348+20A>G single nucleotide variant Carney complex, type 1 [RCV003626442] Chr17:68522946 [GRCh38]
Chr17:66519087 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.502+10T>A single nucleotide variant Carney complex, type 1 [RCV003627938] Chr17:68524087 [GRCh38]
Chr17:66520228 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1055G>A (p.Arg352Gln) single nucleotide variant Carney complex, type 1 [RCV003515110] Chr17:68530358 [GRCh38]
Chr17:66526499 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.177+14_177+15del microsatellite Carney complex, type 1 [RCV003515577] Chr17:68515588..68515589 [GRCh38]
Chr17:66511729..66511730 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.899C>G (p.Ala300Gly) single nucleotide variant Carney complex, type 1 [RCV003627959] Chr17:68529927 [GRCh38]
Chr17:66526068 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.43C>T (p.Leu15Phe) single nucleotide variant Carney complex, type 1 [RCV003514678] Chr17:68515442 [GRCh38]
Chr17:66511583 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.401A>T (p.Lys134Met) single nucleotide variant Carney complex, type 1 [RCV003516080]|Hereditary cancer-predisposing syndrome [RCV004943125] Chr17:68523777 [GRCh38]
Chr17:66519918 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.825G>T (p.Gln275His) single nucleotide variant Carney complex, type 1 [RCV003627153] Chr17:68528925 [GRCh38]
Chr17:66525066 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.549+1G>A single nucleotide variant Carney complex, type 1 [RCV003627996] Chr17:68524959 [GRCh38]
Chr17:66521100 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.1082C>T (p.Pro361Leu) single nucleotide variant Carney complex, type 1 [RCV003628004] Chr17:68530385 [GRCh38]
Chr17:66526526 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.162T>A (p.Phe54Leu) single nucleotide variant Carney complex, type 1 [RCV003514700]|Hereditary cancer-predisposing syndrome [RCV004364922] Chr17:68515561 [GRCh38]
Chr17:66511702 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.302G>A (p.Ser101Asn) single nucleotide variant Carney complex, type 1 [RCV003515203]|Hereditary cancer-predisposing syndrome [RCV004369431] Chr17:68522880 [GRCh38]
Chr17:66519021 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1021G>A (p.Ala341Thr) single nucleotide variant Carney complex, type 1 [RCV003514813] Chr17:68530324 [GRCh38]
Chr17:66526465 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.254C>G (p.Pro85Arg) single nucleotide variant Carney complex, type 1 [RCV003515285]|Hereditary cancer-predisposing syndrome [RCV004366465] Chr17:68522832 [GRCh38]
Chr17:66518973 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.550-8C>A single nucleotide variant Carney complex, type 1 [RCV003626557] Chr17:68525746 [GRCh38]
Chr17:66521887 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1030C>T (p.Pro344Ser) single nucleotide variant Carney complex, type 1 [RCV003628016] Chr17:68530333 [GRCh38]
Chr17:66526474 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.769+16T>C single nucleotide variant Carney complex, type 1 [RCV003627912] Chr17:68527916 [GRCh38]
Chr17:66524057 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.440+11del deletion Carney complex, type 1 [RCV003626536] Chr17:68523826 [GRCh38]
Chr17:66519967 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.940G>T (p.Glu314Ter) single nucleotide variant Carney complex, type 1 [RCV003628491] Chr17:68529968 [GRCh38]
Chr17:66526109 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.859G>A (p.Glu287Lys) single nucleotide variant Carney complex, type 1 [RCV003628578] Chr17:68528959 [GRCh38]
Chr17:66525100 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.973+16C>T single nucleotide variant Carney complex, type 1 [RCV003513835] Chr17:68530017 [GRCh38]
Chr17:66526158 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.902C>T (p.Ala301Val) single nucleotide variant Carney complex, type 1 [RCV003628599] Chr17:68529930 [GRCh38]
Chr17:66526071 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.973+18C>T single nucleotide variant Carney complex, type 1 [RCV003627292] Chr17:68530019 [GRCh38]
Chr17:66526160 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.332C>T (p.Ala111Val) single nucleotide variant Carney complex, type 1 [RCV003626928] Chr17:68522910 [GRCh38]
Chr17:66519051 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.58C>T (p.Leu20Phe) single nucleotide variant Carney complex, type 1 [RCV003627135] Chr17:68515457 [GRCh38]
Chr17:66511598 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.780C>G (p.Asp260Glu) single nucleotide variant Carney complex, type 1 [RCV003627067]|Hereditary cancer-predisposing syndrome [RCV005264467] Chr17:68528880 [GRCh38]
Chr17:66525021 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.550-9G>T single nucleotide variant Carney complex, type 1 [RCV003628247] Chr17:68525745 [GRCh38]
Chr17:66521886 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.411G>A (p.Leu137=) single nucleotide variant Carney complex, type 1 [RCV003513963] Chr17:68523787 [GRCh38]
Chr17:66519928 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.503-12A>G single nucleotide variant Carney complex, type 1 [RCV003627579] Chr17:68524900 [GRCh38]
Chr17:66521041 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.493_497delinsGGCCTCTGTAAGGTAAGG (p.Ile165fs) indel Carney complex, type 1 [RCV003627422] Chr17:68524068..68524072 [GRCh38]
Chr17:66520209..66520213 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.1040_1041delinsTT (p.Cys347Phe) indel Carney complex, type 1 [RCV003628455] Chr17:68530343..68530344 [GRCh38]
Chr17:66526484..66526485 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.744A>G (p.Glu248=) single nucleotide variant Carney complex, type 1 [RCV003627578]|Hereditary cancer-predisposing syndrome [RCV004654331] Chr17:68527875 [GRCh38]
Chr17:66524016 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.441-4G>A single nucleotide variant Carney complex, type 1 [RCV003514173]|Hereditary cancer-predisposing syndrome [RCV005264440] Chr17:68524012 [GRCh38]
Chr17:66520153 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.585G>A (p.Gly195=) single nucleotide variant Carney complex, type 1 [RCV003626445] Chr17:68525789 [GRCh38]
Chr17:66521930 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.974-12T>C single nucleotide variant Carney complex, type 1 [RCV003628062] Chr17:68530265 [GRCh38]
Chr17:66526406 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.503-8T>C single nucleotide variant Carney complex, type 1 [RCV003850407] Chr17:68524904 [GRCh38]
Chr17:66521045 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.147C>T (p.Phe49=) single nucleotide variant Carney complex, type 1 [RCV003834294] Chr17:68515546 [GRCh38]
Chr17:66511687 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1011C>G (p.Ala337=) single nucleotide variant Carney complex, type 1 [RCV003839229] Chr17:68530314 [GRCh38]
Chr17:66526455 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.458T>C (p.Met153Thr) single nucleotide variant Carney complex, type 1 [RCV003838255] Chr17:68524033 [GRCh38]
Chr17:66520174 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.297T>C (p.Ala99=) single nucleotide variant Carney complex, type 1 [RCV003857693] Chr17:68522875 [GRCh38]
Chr17:66519016 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.936C>T (p.Asn312=) single nucleotide variant not provided [RCV003872458] Chr17:68542158 [GRCh38]
Chr17:66538299 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.929-13C>T single nucleotide variant not provided [RCV003860679] Chr17:68542178 [GRCh38]
Chr17:66538319 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.217A>T (p.Thr73Ser) single nucleotide variant Carney complex, type 1 [RCV003870892] Chr17:68522795 [GRCh38]
Chr17:66518936 [GRCh37]
Chr17:17q24.2		 uncertain significance
GRCh37/hg19 17q24.2-24.3(chr17:66271342-67205346)x3 copy number gain not specified [RCV003987225] Chr17:66271342..67205346 [GRCh37]
Chr17:17q24.2-24.3		 uncertain significance
NM_002734.5(PRKAR1A):c.440+9A>G single nucleotide variant Carney complex, type 1 [RCV003863508] Chr17:68523825 [GRCh38]
Chr17:66519966 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.770-12C>A single nucleotide variant Carney complex, type 1 [RCV003859767] Chr17:68528858 [GRCh38]
Chr17:66524999 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1044T>C (p.Val348=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516139] Chr17:68530347 [GRCh38]
Chr17:66526488 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1069C>T (p.Arg357Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516141] Chr17:68530372 [GRCh38]
Chr17:66526513 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1091A>T (p.Asp364Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516142] Chr17:68530394 [GRCh38]
Chr17:66526535 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.259C>T (p.Pro87Ser) single nucleotide variant Carney complex, type 1 [RCV005100430]|Hereditary cancer-predisposing syndrome [RCV004516148] Chr17:68522837 [GRCh38]
Chr17:66518978 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.331G>T (p.Ala111Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516151] Chr17:68522909 [GRCh38]
Chr17:66519050 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.578G>A (p.Ser193Asn) single nucleotide variant Carney complex, type 1 [RCV005065185]|Hereditary cancer-predisposing syndrome [RCV004516156]|not provided [RCV004780718] Chr17:68525782 [GRCh38]
Chr17:66521923 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.809C>T (p.Ala270Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516160] Chr17:68528909 [GRCh38]
Chr17:66525050 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.849G>A (p.Val283=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516161] Chr17:68528949 [GRCh38]
Chr17:66525090 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.883A>G (p.Ile295Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516162] Chr17:68528983 [GRCh38]
Chr17:66525124 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.8C>T (p.Ser3Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516163] Chr17:68515407 [GRCh38]
Chr17:66511548 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.287_290dup (p.Gly98fs) duplication Hereditary cancer-predisposing syndrome [RCV004516149] Chr17:68522864..68522865 [GRCh38]
Chr17:66519005..66519006 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.182A>G (p.Glu61Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516146] Chr17:68522760 [GRCh38]
Chr17:66518901 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.3G>A (p.Met1Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516153] Chr17:68515402 [GRCh38]
Chr17:66511543 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.572C>A (p.Ala191Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516155] Chr17:68525776 [GRCh38]
Chr17:66521917 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.75T>G (p.His25Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516157] Chr17:68515474 [GRCh38]
Chr17:66511615 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.7T>C (p.Ser3Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516159] Chr17:68515406 [GRCh38]
Chr17:66511547 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.122C>T (p.Ala41Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516143] Chr17:68515521 [GRCh38]
Chr17:66511662 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.333A>G (p.Ala111=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516152] Chr17:68522911 [GRCh38]
Chr17:66519052 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.465G>T (p.Ser155=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516154] Chr17:68524040 [GRCh38]
Chr17:66520181 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.290G>A (p.Arg97Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516150] Chr17:68522868 [GRCh38]
Chr17:66519009 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.-87G>A single nucleotide variant PRKAR1A-related disorder [RCV003896698] Chr17:68512468 [GRCh38]
Chr17:66508609 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.*10T>C single nucleotide variant ARSG-related disorder [RCV003944330] Chr17:68420473 [GRCh38]
Chr17:66416614 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017983.7(WIPI1):c.687G>A (p.Met229Ile) single nucleotide variant WIPI1-related disorder [RCV003949197] Chr17:68434561 [GRCh38]
Chr17:66430702 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1054C>A (p.Arg352=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516140] Chr17:68530357 [GRCh38]
Chr17:66526498 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.132G>C (p.Glu44Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516144] Chr17:68515531 [GRCh38]
Chr17:66511672 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.177+1G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516145] Chr17:68515577 [GRCh38]
Chr17:66511718 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_017983.7(WIPI1):c.1152C>T (p.Thr384=) single nucleotide variant WIPI1-related disorder [RCV003947168] Chr17:68427175 [GRCh38]
Chr17:66423316 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-88G>A single nucleotide variant PRKAR1A-related disorder [RCV003969041] Chr17:68512467 [GRCh38]
Chr17:66508608 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.847G>C (p.Gly283Arg) single nucleotide variant Inborn genetic diseases [RCV004381182] Chr17:68542775 [GRCh38]
Chr17:66538916 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1541T>A (p.Val514Glu) single nucleotide variant Inborn genetic diseases [RCV004381180] Chr17:68537562 [GRCh38]
Chr17:66533703 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017983.7(WIPI1):c.556G>A (p.Glu186Lys) single nucleotide variant not specified [RCV004482986] Chr17:68435685 [GRCh38]
Chr17:66431826 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.187G>A (p.Val63Met) single nucleotide variant not specified [RCV004482985] Chr17:68450874 [GRCh38]
Chr17:66447015 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.175G>T (p.Asp59Tyr) single nucleotide variant not specified [RCV004482984] Chr17:68450886 [GRCh38]
Chr17:66447027 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.154C>T (p.His52Tyr) single nucleotide variant not specified [RCV004482983] Chr17:68452919 [GRCh38]
Chr17:66449060 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.1322G>A (p.Gly441Asp) single nucleotide variant not specified [RCV004482982] Chr17:68421792 [GRCh38]
Chr17:66417933 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.1094C>G (p.Thr365Arg) single nucleotide variant not specified [RCV004482981] Chr17:68427233 [GRCh38]
Chr17:66423374 [GRCh37]
Chr17:17q24.2		 uncertain significance
NC_000017.10:g.(?_66518887)_(66519077_?)del deletion Carney complex, type 1 [RCV004581304] Chr17:66518887..66519077 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NC_000017.10:g.(?_66515268)_(66521884_?)del deletion Carney complex, type 1 [RCV004581305] Chr17:66515268..66521884 [GRCh37]
Chr17:17q24.2		 pathogenic
NC_000017.10:g.(?_66506858)_(66511552_?)del deletion Carney complex, type 1 [RCV004581306] Chr17:66506858..66511552 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.394A>C (p.Ile132Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004660190] Chr17:68523770 [GRCh38]
Chr17:66519911 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.209A>G (p.Lys70Arg) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV004574626] Chr17:68522787 [GRCh38]
Chr17:66518928 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.472T>A (p.Phe158Ile) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV004574624]|Hereditary cancer-predisposing syndrome [RCV004943311] Chr17:68524047 [GRCh38]
Chr17:66520188 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.954G>A (p.Leu318=) single nucleotide variant Carney complex, type 1 [RCV005102396]|Hereditary cancer-predisposing syndrome [RCV004660193] Chr17:68529982 [GRCh38]
Chr17:66526123 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.913C>A (p.Arg305Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004648634] Chr17:68529941 [GRCh38]
Chr17:66526082 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.319G>A (p.Glu107Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004648636] Chr17:68522897 [GRCh38]
Chr17:66519038 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.16A>G (p.Thr6Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004648637] Chr17:68515415 [GRCh38]
Chr17:66511556 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.719T>G (p.Leu240Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004648638] Chr17:68527850 [GRCh38]
Chr17:66523991 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.818C>T (p.Pro273Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004648639] Chr17:68528918 [GRCh38]
Chr17:66525059 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.228C>T (p.Asp76=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004648640] Chr17:68522806 [GRCh38]
Chr17:66518947 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.68A>G (p.Gln23Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004660189] Chr17:68515467 [GRCh38]
Chr17:66511608 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.348+3_348+6del deletion Acrodysostosis 1 with or without hormone resistance [RCV004574625] Chr17:68522928..68522931 [GRCh38]
Chr17:66519069..66519072 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.770-9_770-5del deletion Hereditary cancer-predisposing syndrome [RCV004660191] Chr17:68528857..68528861 [GRCh38]
Chr17:66524998..66525002 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.810A>C (p.Ala270=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004648642] Chr17:68528910 [GRCh38]
Chr17:66525051 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.405T>C (p.Asn135=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004648643] Chr17:68523781 [GRCh38]
Chr17:66519922 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.514G>C (p.Asp172His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004660192] Chr17:68524923 [GRCh38]
Chr17:66521064 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.928G>C (p.Ala310Pro) single nucleotide variant FAM20A-related disorder [RCV004757019] Chr17:68542694 [GRCh38]
Chr17:66538835 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.349G>T (p.Val117Phe) single nucleotide variant not provided [RCV004702141] Chr17:68523725 [GRCh38]
Chr17:66519866 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.700A>G (p.Ile234Val) single nucleotide variant not provided [RCV004811400] Chr17:68525904 [GRCh38]
Chr17:66522045 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.752TCT[1] (p.Phe252del) microsatellite FAM20A-related disorder [RCV004756759] Chr17:68543684..68543686 [GRCh38]
Chr17:66539825..66539827 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.172G>A (p.Glu58Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005264564]|not provided [RCV004768122] Chr17:68515571 [GRCh38]
Chr17:66511712 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.298A>C (p.Ile100Leu) single nucleotide variant not provided [RCV004725878] Chr17:68522876 [GRCh38]
Chr17:66519017 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1430T>A (p.Met477Lys) single nucleotide variant Inborn genetic diseases [RCV004977446] Chr17:68537673 [GRCh38]
Chr17:66533814 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1183A>G (p.Asn395Asp) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005022567] Chr17:68540885 [GRCh38]
Chr17:66537026 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.889A>G (p.Lys297Glu) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005022575]|Inborn genetic diseases [RCV005336038] Chr17:68542733 [GRCh38]
Chr17:66538874 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1486C>T (p.Leu496Phe) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005022560]|Inborn genetic diseases [RCV005325949] Chr17:68537617 [GRCh38]
Chr17:66533758 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1361+16G>A single nucleotide variant Amelogenesis imperfecta type 1G [RCV005022564] Chr17:68539321 [GRCh38]
Chr17:66535462 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1091C>T (p.Thr364Ile) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005022571] Chr17:68542003 [GRCh38]
Chr17:66538144 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1022C>T (p.Ser341Phe) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005022572] Chr17:68542072 [GRCh38]
Chr17:66538213 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.853A>G (p.Ile285Val) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005022576] Chr17:68542769 [GRCh38]
Chr17:66538910 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.964A>G (p.Met322Val) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005026009] Chr17:68542130 [GRCh38]
Chr17:66538271 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1567G>C (p.Val523Leu) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005026001] Chr17:68537536 [GRCh38]
Chr17:66533677 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1092_1093del (p.Leu365fs) microsatellite Amelogenesis imperfecta type 1G [RCV005022570] Chr17:68542001..68542002 [GRCh38]
Chr17:66538142..66538143 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.1080C>T (p.Gly360=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946587] Chr17:68530383 [GRCh38]
Chr17:66526524 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.89T>G (p.Leu30Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946588] Chr17:68515488 [GRCh38]
Chr17:66511629 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.181G>A (p.Glu61Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946590] Chr17:68522759 [GRCh38]
Chr17:66518900 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.88C>T (p.Leu30=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946596] Chr17:68515487 [GRCh38]
Chr17:66511628 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.348+4G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946604] Chr17:68522930 [GRCh38]
Chr17:66519071 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.248C>T (p.Ser83Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946609] Chr17:68522826 [GRCh38]
Chr17:66518967 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.862C>G (p.Pro288Ala) single nucleotide variant Carney complex, type 1 [RCV005107749]|Hereditary cancer-predisposing syndrome [RCV004946611] Chr17:68528962 [GRCh38]
Chr17:66525103 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.566A>C (p.Glu189Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946612] Chr17:68525770 [GRCh38]
Chr17:66521911 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.46C>A (p.Arg16=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946615] Chr17:68515445 [GRCh38]
Chr17:66511586 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1033C>T (p.Pro345Ser) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005026007] Chr17:68542061 [GRCh38]
Chr17:66538202 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.605A>G (p.Glu202Gly) single nucleotide variant not provided [RCV005001834] Chr17:68525809 [GRCh38]
Chr17:66521950 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1168A>G (p.Ser390Gly) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005022568] Chr17:68540900 [GRCh38]
Chr17:66537041 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1012G>C (p.Gly338Arg) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005022573] Chr17:68542082 [GRCh38]
Chr17:66538223 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.813-1G>C single nucleotide variant Amelogenesis imperfecta type 1G [RCV005022577] Chr17:68542810 [GRCh38]
Chr17:66538951 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_017565.4(FAM20A):c.1301G>C (p.Gly434Ala) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005026004] Chr17:68539885 [GRCh38]
Chr17:66536026 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1112G>A (p.Trp371Ter) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005026006] Chr17:68540956 [GRCh38]
Chr17:66537097 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_017565.4(FAM20A):c.793G>A (p.Ala265Thr) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005026011] Chr17:68543648 [GRCh38]
Chr17:66539789 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.770T>G (p.Phe257Cys) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005026012] Chr17:68543671 [GRCh38]
Chr17:66539812 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001276290.1(PRKAR1A):c.1012T>C (p.Ter338Gln) single nucleotide variant Carney complex, type 1 [RCV005026013] Chr17:68551122 [GRCh38]
Chr17:66547263 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1110-12_1110-10del microsatellite Amelogenesis imperfecta type 1G [RCV005022569] Chr17:68540968..68540970 [GRCh38]
Chr17:66537109..66537111 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.29C>T (p.Pro10Leu) single nucleotide variant not specified [RCV004876977] Chr17:68457393 [GRCh38]
Chr17:66453534 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.803G>A (p.Arg268Gln) single nucleotide variant not specified [RCV004876978] Chr17:68430158 [GRCh38]
Chr17:66426299 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.1235C>T (p.Pro412Leu) single nucleotide variant not specified [RCV004876981] Chr17:68426133 [GRCh38]
Chr17:66422274 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.1090A>G (p.Thr364Ala) single nucleotide variant not specified [RCV004876982] Chr17:68427237 [GRCh38]
Chr17:66423378 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.827G>A (p.Arg276Gln) single nucleotide variant Inborn genetic diseases [RCV004977441] Chr17:68542795 [GRCh38]
Chr17:66538936 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1288G>C (p.Asp430His) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005023763]|Inborn genetic diseases [RCV004977442] Chr17:68539898 [GRCh38]
Chr17:66536039 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1192G>A (p.Asp398Asn) single nucleotide variant Inborn genetic diseases [RCV004977444] Chr17:68540876 [GRCh38]
Chr17:66537017 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.794C>T (p.Ala265Val) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005022578] Chr17:68543647 [GRCh38]
Chr17:66539788 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.727C>T (p.Arg243Ter) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005022580] Chr17:68543714 [GRCh38]
Chr17:66539855 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.857G>C (p.Gly286Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946592] Chr17:68528957 [GRCh38]
Chr17:66525098 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1047G>T (p.Lys349Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946595] Chr17:68530350 [GRCh38]
Chr17:66526491 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.502+4del deletion Hereditary cancer-predisposing syndrome [RCV004946601] Chr17:68524080 [GRCh38]
Chr17:66520221 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.453T>C (p.Asp151=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946616] Chr17:68524028 [GRCh38]
Chr17:66520169 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.88C>G (p.Leu30Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946586] Chr17:68515487 [GRCh38]
Chr17:66511628 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.199A>C (p.Asn67His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946591] Chr17:68522777 [GRCh38]
Chr17:66518918 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.838C>A (p.Gln280Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946599] Chr17:68528938 [GRCh38]
Chr17:66525079 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.988C>T (p.Leu330=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946602] Chr17:68530291 [GRCh38]
Chr17:66526432 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.87_88delinsAG (p.Leu30Val) indel Hereditary cancer-predisposing syndrome [RCV004946614] Chr17:68515486..68515487 [GRCh38]
Chr17:66511627..66511628 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.712A>G (p.Ser238Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946618] Chr17:68527843 [GRCh38]
Chr17:66523984 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.1276G>A (p.Glu426Lys) single nucleotide variant not specified [RCV004876976] Chr17:68426092 [GRCh38]
Chr17:66422233 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.1145C>T (p.Ala382Val) single nucleotide variant not specified [RCV004876979] Chr17:68427182 [GRCh38]
Chr17:66423323 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.403C>T (p.Leu135Phe) single nucleotide variant not specified [RCV004876980] Chr17:68444520 [GRCh38]
Chr17:66440661 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.67A>T (p.Asn23Tyr) single nucleotide variant not specified [RCV004876983] Chr17:68457355 [GRCh38]
Chr17:66453496 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.253G>A (p.Val85Met) single nucleotide variant not specified [RCV004890421] Chr17:68450808 [GRCh38]
Chr17:66446949 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.78C>G (p.Asn26Lys) single nucleotide variant Carney complex, type 1 [RCV005025999] Chr17:68515477 [GRCh38]
Chr17:66511618 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.122C>G (p.Ser41Cys) single nucleotide variant not specified [RCV004890422] Chr17:68452951 [GRCh38]
Chr17:66449092 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.57C>G (p.Cys19Trp) single nucleotide variant not specified [RCV004876975] Chr17:68457365 [GRCh38]
Chr17:66453506 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.77A>G (p.Asn26Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946589] Chr17:68515476 [GRCh38]
Chr17:66511617 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.30G>C (p.Glu10Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946593] Chr17:68515429 [GRCh38]
Chr17:66511570 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.244A>G (p.Ile82Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946597] Chr17:68522822 [GRCh38]
Chr17:66518963 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.441-6_441-5del deletion Carney complex, type 1 [RCV005061532]|Hereditary cancer-predisposing syndrome [RCV004946598] Chr17:68524008..68524009 [GRCh38]
Chr17:66520149..66520150 [GRCh37]
Chr17:17q24.2		 likely benign|uncertain significance
NM_002734.5(PRKAR1A):c.408G>C (p.Val136=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946605] Chr17:68523784 [GRCh38]
Chr17:66519925 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.419A>G (p.His140Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946607] Chr17:68523795 [GRCh38]
Chr17:66519936 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.555T>C (p.Tyr185=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946608] Chr17:68525759 [GRCh38]
Chr17:66521900 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.750T>C (p.Leu250=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946613] Chr17:68527881 [GRCh38]
Chr17:66524022 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.341T>A (p.Val114Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946617] Chr17:68522919 [GRCh38]
Chr17:66519060 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.888A>G (p.Leu296=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946594] Chr17:68528988 [GRCh38]
Chr17:66525129 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.427G>A (p.Asp143Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946603] Chr17:68523803 [GRCh38]
Chr17:66519944 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.255T>C (p.Pro85=) single nucleotide variant Carney complex, type 1 [RCV005107748]|Hereditary cancer-predisposing syndrome [RCV004946606] Chr17:68522833 [GRCh38]
Chr17:66518974 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.624A>G (p.Gly208=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946610] Chr17:68525828 [GRCh38]
Chr17:66521969 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1437G>C (p.Leu479=) single nucleotide variant not provided [RCV005124236] Chr17:68420322 [GRCh38]
Chr17:66416463 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.129T>C (p.Pro43=) single nucleotide variant Carney complex, type 1 [RCV005060359] Chr17:68515528 [GRCh38]
Chr17:66511669 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.891+26_891+61del deletion Carney complex, type 1 [RCV005147791] Chr17:68528983..68529018 [GRCh38]
Chr17:66525124..66525159 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.770-13T>C single nucleotide variant Carney complex, type 1 [RCV005175480] Chr17:68528857 [GRCh38]
Chr17:66524998 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.769+19T>A single nucleotide variant Carney complex, type 1 [RCV005196920] Chr17:68527919 [GRCh38]
Chr17:66524060 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1575A>C (p.Ala525=) single nucleotide variant not provided [RCV005159169] Chr17:68420460 [GRCh38]
Chr17:66416601 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1030C>A (p.Pro344Thr) single nucleotide variant Carney complex, type 1 [RCV005147847] Chr17:68530333 [GRCh38]
Chr17:66526474 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.550-9G>A single nucleotide variant Carney complex, type 1 [RCV005086248] Chr17:68525745 [GRCh38]
Chr17:66521886 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.900C>A (p.Ile300=) single nucleotide variant not provided [RCV005186912] Chr17:68542722 [GRCh38]
Chr17:66538863 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.948C>T (p.Phe316=) single nucleotide variant not provided [RCV005079561] Chr17:68542146 [GRCh38]
Chr17:66538287 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.167G>A (p.Arg56Lys) single nucleotide variant Carney complex, type 1 [RCV005055300]|Hereditary cancer-predisposing syndrome [RCV005264581] Chr17:68515566 [GRCh38]
Chr17:66511707 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.428A>G (p.Asp143Gly) single nucleotide variant Carney complex, type 1 [RCV005084690] Chr17:68523804 [GRCh38]
Chr17:66519945 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.325G>C (p.Asp109His) single nucleotide variant Carney complex, type 1 [RCV005173392] Chr17:68522903 [GRCh38]
Chr17:66519044 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.544A>G (p.Thr182Ala) single nucleotide variant Carney complex, type 1 [RCV005195170] Chr17:68524953 [GRCh38]
Chr17:66521094 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.-12C>G single nucleotide variant Carney complex, type 1 [RCV005195279] Chr17:68512543 [GRCh38]
Chr17:66508684 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1602T>C (p.Ser534=) single nucleotide variant not provided [RCV005071011] Chr17:68537501 [GRCh38]
Chr17:66533642 [GRCh37]
Chr17:17q24.2		 likely benign
NM_001267727.2(ARSG):c.1530T>A (p.Thr510=) single nucleotide variant not provided [RCV005065936] Chr17:68420415 [GRCh38]
Chr17:66416556 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.178-2A>T single nucleotide variant Carney complex, type 1 [RCV005145927] Chr17:68522754 [GRCh38]
Chr17:66518895 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.503-20A>C single nucleotide variant Carney complex, type 1 [RCV005145688] Chr17:68524892 [GRCh38]
Chr17:66521033 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.634G>A (p.Ala212Thr) single nucleotide variant PRKAR1A-related disorder [RCV005250481] Chr17:68525838 [GRCh38]
Chr17:66521979 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.982G>A (p.Ala328Thr) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV005235773] Chr17:68530285 [GRCh38]
Chr17:66526426 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.642T>C (p.Thr214=) single nucleotide variant Carney complex, type 1 [RCV005203944] Chr17:68525846 [GRCh38]
Chr17:66521987 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.770-6T>C single nucleotide variant Carney complex, type 1 [RCV005072243] Chr17:68528864 [GRCh38]
Chr17:66525005 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.707T>C (p.Met236Thr) single nucleotide variant Carney complex, type 1 [RCV005152672] Chr17:68525911 [GRCh38]
Chr17:66522052 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.283A>T (p.Arg95Trp) single nucleotide variant Carney complex, type 1 [RCV005200692] Chr17:68522861 [GRCh38]
Chr17:66519002 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.178-19A>C single nucleotide variant Carney complex, type 1 [RCV005187374] Chr17:68522737 [GRCh38]
Chr17:66518878 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.916C>A (p.Arg306=) single nucleotide variant Carney complex, type 1 [RCV005137495] Chr17:68529944 [GRCh38]
Chr17:66526085 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.573A>G (p.Ala191=) single nucleotide variant Carney complex, type 1 [RCV005116945] Chr17:68525777 [GRCh38]
Chr17:66521918 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.413T>G (p.Phe138Cys) single nucleotide variant Carney complex, type 1 [RCV005140825] Chr17:68523789 [GRCh38]
Chr17:66519930 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.159C>T (p.Tyr53=) single nucleotide variant Carney complex, type 1 [RCV005156515] Chr17:68515558 [GRCh38]
Chr17:66511699 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.459G>A (p.Met153Ile) single nucleotide variant Carney complex, type 1 [RCV005200688] Chr17:68524034 [GRCh38]
Chr17:66520175 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.913C>G (p.Arg305Gly) single nucleotide variant Carney complex, type 1 [RCV005200691] Chr17:68529941 [GRCh38]
Chr17:66526082 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.156_158dup (p.Tyr53Ter) duplication Carney complex, type 1 [RCV005201864] Chr17:68515553..68515554 [GRCh38]
Chr17:66511694..66511695 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.592G>A (p.Gly198Arg) single nucleotide variant Carney complex, type 1 [RCV005126278] Chr17:68525796 [GRCh38]
Chr17:66521937 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.487A>G (p.Thr163Ala) single nucleotide variant Carney complex, type 1 [RCV005199965] Chr17:68524062 [GRCh38]
Chr17:66520203 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.719+806C>T single nucleotide variant Amelogenesis imperfecta type 1G [RCV005234755] Chr17:68551067 [GRCh38]
Chr17:66547208 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.349-15T>G single nucleotide variant Carney complex, type 1 [RCV005151176] Chr17:68523710 [GRCh38]
Chr17:66519851 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.380C>A (p.Ala127Asp) single nucleotide variant Carney complex, type 1 [RCV005200684] Chr17:68523756 [GRCh38]
Chr17:66519897 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.754A>C (p.Lys252Gln) single nucleotide variant Carney complex, type 1 [RCV005200686] Chr17:68527885 [GRCh38]
Chr17:66524026 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.37C>A (p.Arg13Ser) single nucleotide variant Carney complex, type 1 [RCV005082036] Chr17:68515436 [GRCh38]
Chr17:66511577 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.565G>C (p.Glu189Gln) single nucleotide variant Carney complex, type 1 [RCV005082504] Chr17:68525769 [GRCh38]
Chr17:66521910 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.709-8A>G single nucleotide variant Carney complex, type 1 [RCV005178127] Chr17:68527832 [GRCh38]
Chr17:66523973 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.502+14G>A single nucleotide variant Carney complex, type 1 [RCV005075072] Chr17:68524091 [GRCh38]
Chr17:66520232 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.973+15C>T single nucleotide variant Carney complex, type 1 [RCV005162385] Chr17:68530016 [GRCh38]
Chr17:66526157 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.440+14_440+15del microsatellite Carney complex, type 1 [RCV005142474] Chr17:68523828..68523829 [GRCh38]
Chr17:66519969..66519970 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.354A>C (p.Ile118=) single nucleotide variant Carney complex, type 1 [RCV005134635] Chr17:68523730 [GRCh38]
Chr17:66519871 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.974-18C>A single nucleotide variant Carney complex, type 1 [RCV005160106] Chr17:68530259 [GRCh38]
Chr17:66526400 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.324A>G (p.Glu108=) single nucleotide variant Carney complex, type 1 [RCV005176240] Chr17:68522902 [GRCh38]
Chr17:66519043 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.969T>A (p.Tyr323Ter) single nucleotide variant Carney complex, type 1 [RCV005143197] Chr17:68529997 [GRCh38]
Chr17:66526138 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.-7+10G>A single nucleotide variant Carney complex, type 1 [RCV005078227] Chr17:68512558 [GRCh38]
Chr17:66508699 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.550-15T>C single nucleotide variant Carney complex, type 1 [RCV005188927] Chr17:68525739 [GRCh38]
Chr17:66521880 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.916C>G (p.Arg306Gly) single nucleotide variant Carney complex, type 1 [RCV005078008] Chr17:68529944 [GRCh38]
Chr17:66526085 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.502G>A (p.Gly168Ser) single nucleotide variant Carney complex, type 1 [RCV005179887] Chr17:68524077 [GRCh38]
Chr17:66520218 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.1058C>G (p.Pro353Arg) single nucleotide variant Carney complex, type 1 [RCV005200690] Chr17:68530361 [GRCh38]
Chr17:66526502 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.349-8T>A single nucleotide variant Carney complex, type 1 [RCV005134442] Chr17:68523717 [GRCh38]
Chr17:66519858 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-6-2A>C single nucleotide variant Carney complex, type 1 [RCV005180400] Chr17:68515392 [GRCh38]
Chr17:66511533 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.503-21_503-18del deletion Carney complex, type 1 [RCV005161239] Chr17:68524889..68524892 [GRCh38]
Chr17:66521030..66521033 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1038G>C (p.Lys346Asn) single nucleotide variant Carney complex, type 1 [RCV005130938] Chr17:68530341 [GRCh38]
Chr17:66526482 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.178-5T>C single nucleotide variant Carney complex, type 1 [RCV005141222] Chr17:68522751 [GRCh38]
Chr17:66518892 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.973+19_973+37del deletion Carney complex, type 1 [RCV005140339] Chr17:68530018..68530036 [GRCh38]
Chr17:66526159..66526177 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.36A>C (p.Ala12=) single nucleotide variant Carney complex, type 1 [RCV005131589] Chr17:68515435 [GRCh38]
Chr17:66511576 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-3A>G single nucleotide variant Carney complex, type 1 [RCV005166202] Chr17:68515397 [GRCh38]
Chr17:66511538 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.708+12T>C single nucleotide variant Carney complex, type 1 [RCV005176777] Chr17:68525924 [GRCh38]
Chr17:66522065 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.770-19T>C single nucleotide variant Carney complex, type 1 [RCV005203068] Chr17:68528851 [GRCh38]
Chr17:66524992 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.774T>G (p.Ser258=) single nucleotide variant Carney complex, type 1 [RCV005124858] Chr17:68528874 [GRCh38]
Chr17:66525015 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.211G>C (p.Ala71Pro) single nucleotide variant Carney complex, type 1 [RCV005205516] Chr17:68522789 [GRCh38]
Chr17:66518930 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.178-20A>G single nucleotide variant Carney complex, type 1 [RCV005125130] Chr17:68522736 [GRCh38]
Chr17:66518877 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.177+18G>A single nucleotide variant Carney complex, type 1 [RCV005126327] Chr17:68515594 [GRCh38]
Chr17:66511735 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.90G>C (p.Leu30=) single nucleotide variant Carney complex, type 1 [RCV005198986] Chr17:68515489 [GRCh38]
Chr17:66511630 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1086C>A (p.Cys362Ter) single nucleotide variant Carney complex, type 1 [RCV005126337] Chr17:68530389 [GRCh38]
Chr17:66526530 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.759C>G (p.Val253=) single nucleotide variant Carney complex, type 1 [RCV005116057] Chr17:68527890 [GRCh38]
Chr17:66524031 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.178-10T>C single nucleotide variant Carney complex, type 1 [RCV005181682] Chr17:68522746 [GRCh38]
Chr17:66518887 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1089A>G (p.Ser363=) single nucleotide variant Carney complex, type 1 [RCV005202615] Chr17:68530392 [GRCh38]
Chr17:66526533 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.155_156insGAGGA (p.Tyr53fs) insertion Carney complex, type 1 [RCV005127747] Chr17:68515551..68515552 [GRCh38]
Chr17:66511692..66511693 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.31G>A (p.Glu11Lys) single nucleotide variant Carney complex, type 1 [RCV005200685] Chr17:68515430 [GRCh38]
Chr17:66511571 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.974-2A>G single nucleotide variant Carney complex, type 1 [RCV005126718] Chr17:68530275 [GRCh38]
Chr17:66526416 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.467T>C (p.Val156Ala) single nucleotide variant Carney complex, type 1 [RCV005112043] Chr17:68524042 [GRCh38]
Chr17:66520183 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.550-17T>A single nucleotide variant Carney complex, type 1 [RCV005356698] Chr17:68525737 [GRCh38]
Chr17:66521878 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_017565.4(FAM20A):c.720A>G (p.Arg240=) single nucleotide variant Inborn genetic diseases [RCV005341580] Chr17:68543721 [GRCh38]
Chr17:66539862 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.916C>T (p.Arg306Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005265065] Chr17:68529944 [GRCh38]
Chr17:66526085 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.41G>C (p.Ser14Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005265067] Chr17:68515440 [GRCh38]
Chr17:66511581 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.468C>G (p.Val156=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005265074] Chr17:68524043 [GRCh38]
Chr17:66520184 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.1065T>G (p.Phe355Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005265076] Chr17:68530368 [GRCh38]
Chr17:66526509 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.83A>G (p.Gln28Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005265078] Chr17:68515482 [GRCh38]
Chr17:66511623 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1085C>G (p.Ser362Cys) single nucleotide variant Inborn genetic diseases [RCV005341581] Chr17:68542009 [GRCh38]
Chr17:66538150 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.973+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005265069] Chr17:68530004 [GRCh38]
Chr17:66526145 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.239A>T (p.Asp80Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005265075] Chr17:68522817 [GRCh38]
Chr17:66518958 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1414G>A (p.Gly472Ser) single nucleotide variant not specified [RCV005259585] Chr17:68420299 [GRCh38]
Chr17:66416440 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.789A>G (p.Glu263=) single nucleotide variant Carney complex, type 1 [RCV003099775]|Hereditary cancer-predisposing syndrome [RCV002412350] Chr17:68528889 [GRCh38]
Chr17:66525030 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017565.4(FAM20A):c.1301+5G>A single nucleotide variant Amelogenesis imperfecta type 1G [RCV003155533] Chr17:68539880 [GRCh38]
Chr17:66536021 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.928+2T>C single nucleotide variant Amelogenesis imperfecta type 1G [RCV003155005] Chr17:68542692 [GRCh38]
Chr17:66538833 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_017983.7(WIPI1):c.847T>C (p.Phe283Leu) single nucleotide variant not specified [RCV004334338] Chr17:68430114 [GRCh38]
Chr17:66426255 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.1220G>A (p.Arg407Gln) single nucleotide variant not specified [RCV004361203] Chr17:68426148 [GRCh38]
Chr17:66422289 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.229T>C (p.Ser77Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003381236] Chr17:68522807 [GRCh38]
Chr17:66518948 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.647A>C (p.Lys216Thr) single nucleotide variant Acrodysostosis 1 with or without hormone resistance [RCV003463376] Chr17:68525851 [GRCh38]
Chr17:66521992 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.995A>C (p.Asn332Thr) single nucleotide variant Carney complex, type 1 [RCV003515614] Chr17:68530298 [GRCh38]
Chr17:66526439 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1538T>C (p.Ile513Thr) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005026002] Chr17:68537565 [GRCh38]
Chr17:66533706 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.996_997delinsAG (p.Asn332_Pro333delinsLysAla) indel Amelogenesis imperfecta type 1G [RCV005026008] Chr17:68542097..68542098 [GRCh38]
Chr17:66538238..66538239 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1219+14C>T single nucleotide variant Amelogenesis imperfecta type 1G [RCV005026005] Chr17:68540835 [GRCh38]
Chr17:66536976 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.937G>A (p.Val313Met) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005026010] Chr17:68542157 [GRCh38]
Chr17:66538298 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1609G>A (p.Ala537Thr) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005022558] Chr17:68537494 [GRCh38]
Chr17:66533635 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1481A>G (p.His494Arg) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005022561] Chr17:68537622 [GRCh38]
Chr17:66533763 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1478C>T (p.Pro493Leu) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005022562] Chr17:68537625 [GRCh38]
Chr17:66533766 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1442T>C (p.Leu481Pro) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005022563] Chr17:68537661 [GRCh38]
Chr17:66533802 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1340C>T (p.Ser447Leu) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005022565] Chr17:68539358 [GRCh38]
Chr17:66535499 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1207G>A (p.Asp403Asn) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005022566] Chr17:68540861 [GRCh38]
Chr17:66537002 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_017565.4(FAM20A):c.1570G>A (p.Asp524Asn) single nucleotide variant Amelogenesis imperfecta type 1G [RCV005026000] Chr17:68537533 [GRCh38]
Chr17:66533674 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.1301+3G>A single nucleotide variant Amelogenesis imperfecta type 1G [RCV005026003] Chr17:68539882 [GRCh38]
Chr17:66536023 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.48A>C (p.Arg16=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946600] Chr17:68515447 [GRCh38]
Chr17:66511588 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017983.7(WIPI1):c.592G>A (p.Gly198Ser) single nucleotide variant not specified [RCV005295540] Chr17:68435649 [GRCh38]
Chr17:66431790 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.915T>G (p.Arg305=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005265066] Chr17:68529943 [GRCh38]
Chr17:66526084 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.550-4T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005265070] Chr17:68525750 [GRCh38]
Chr17:66521891 [GRCh37]
Chr17:17q24.2		 likely benign
NM_002734.5(PRKAR1A):c.-7G>A single nucleotide variant Carney complex, type 1 [RCV005357045] Chr17:68512548 [GRCh38]
Chr17:66508689 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_002734.5(PRKAR1A):c.-97G>A single nucleotide variant Carney complex, type 1 [RCV005357046] Chr17:68512458 [GRCh38]
Chr17:66508599 [GRCh37]
Chr17:17q24.2		 likely pathogenic
NM_017565.4(FAM20A):c.836C>T (p.Pro279Leu) single nucleotide variant Inborn genetic diseases [RCV005335517] Chr17:68542786 [GRCh38]
Chr17:66538927 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017565.4(FAM20A):c.767A>C (p.Asp256Ala) single nucleotide variant Inborn genetic diseases [RCV005341578] Chr17:68543674 [GRCh38]
Chr17:66539815 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_001267727.2(ARSG):c.1538G>A (p.Cys513Tyr) single nucleotide variant not specified [RCV005259588] Chr17:68420423 [GRCh38]
Chr17:66416564 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.4(PRKAR1A):c.503del deletion Carney complex, type 1 [RCV005365824] Chr17:68524911 [GRCh38]
Chr17:66521052 [GRCh37]
Chr17:17q24.2		 pathogenic
NM_002734.5(PRKAR1A):c.276A>T (p.Lys92Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005265071] Chr17:68522854 [GRCh38]
Chr17:66518995 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.241G>A (p.Glu81Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005265072] Chr17:68522819 [GRCh38]
Chr17:66518960 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_002734.5(PRKAR1A):c.69G>A (p.Gln23=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005265077] Chr17:68515468 [GRCh38]
Chr17:66511609 [GRCh37]
Chr17:17q24.2		 likely benign
NM_017983.7(WIPI1):c.772A>G (p.Ile258Val) single nucleotide variant not specified [RCV005302141] Chr17:68433496 [GRCh38]
Chr17:66429637 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.22G>C (p.Ala8Pro) single nucleotide variant not specified [RCV005302142] Chr17:68457400 [GRCh38]
Chr17:66453541 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.184A>G (p.Ile62Val) single nucleotide variant not specified [RCV005302143] Chr17:68450877 [GRCh38]
Chr17:66447018 [GRCh37]
Chr17:17q24.2		 uncertain significance
NM_017983.7(WIPI1):c.440C>T (p.Ala147Val) single nucleotide variant not specified [RCV005302144] Chr17:68436470 [GRCh38]
Chr17:66432611 [GRCh37]
Chr17:17q24.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:7147
Count of miRNA genes:1221
Interacting mature miRNAs:1558
Transcripts:ENST00000358598, ENST00000392710, ENST00000392711, ENST00000536854, ENST00000585427, ENST00000585460, ENST00000585608, ENST00000585815, ENST00000585907, ENST00000585981, ENST00000586397, ENST00000586541, ENST00000588178, ENST00000588188, ENST00000588702, ENST00000589017, ENST00000589228, ENST00000589309, ENST00000589480, ENST00000590353, ENST00000592194, ENST00000592800
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597153813GWAS1249887_Hcholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1249887 (human)3e-08blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)176845488568454886Human
407258436GWAS907412_Hgenomic measurement QTL GWAS907412 (human)3e-09genomic measurement176850110168501105Human
597613597GWAS1670457_HRed cell distribution width QTL GWAS1670457 (human)1e-11erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)176842308868423089Human
597493786GWAS1589860_Hmajor depressive disorder QTL GWAS1589860 (human)0.0000002major depressive disorder176842878268428783Human
407306186GWAS955162_Hmean corpuscular hemoglobin concentration QTL GWAS955162 (human)9e-14erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)176845093268450933Human
597219336GWAS1315410_Halkaline phosphatase measurement QTL GWAS1315410 (human)2e-10blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)176843186168431862Human
407258711GWAS907687_Hgenomic measurement QTL GWAS907687 (human)2e-09genomic measurement176853800468538005Human
596950925GWAS1070444_HRed cell distribution width QTL GWAS1070444 (human)2e-27Red cell distribution width176845093268450933Human
597154441GWAS1250515_Hphospholipids:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1250515 (human)3e-14blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)176845128068451281Human
597090870GWAS1186944_HRed cell distribution width QTL GWAS1186944 (human)2e-27erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)176845093268450933Human
596955568GWAS1075087_HRed cell distribution width QTL GWAS1075087 (human)2e-26Red cell distribution width176845093268450933Human
596974512GWAS1094031_Hmajor depressive disorder QTL GWAS1094031 (human)0.0000002major depressive disorder176842878268428783Human
597168318GWAS1264392_Halkaline phosphatase measurement QTL GWAS1264392 (human)6e-20blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)176845716468457165Human
597206833GWAS1302907_Hmajor depressive disorder QTL GWAS1302907 (human)6e-08major depressive disorder176842820068428201Human
407389793GWAS1038769_Hobsolete_red blood cell distribution width QTL GWAS1038769 (human)5e-10obsolete_red blood cell distribution width176843229068432291Human
407383521GWAS1032497_Hobsolete_red blood cell distribution width QTL GWAS1032497 (human)2e-26obsolete_red blood cell distribution width176845093268450933Human
597326641GWAS1422715_Hglucose measurement QTL GWAS1422715 (human)6e-12blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)176845128068451281Human
597152059GWAS1248133_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1248133 (human)9e-10blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)176845234968452350Human
597105080GWAS1201154_Halkaline phosphatase measurement QTL GWAS1201154 (human)4e-12blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)176845556768455568Human
597099047GWAS1195121_Hneutrophil percentage of leukocytes QTL GWAS1195121 (human)3e-09neutrophil quantity (VT:0000222)blood neutrophil count to total leukocyte count ratio (CMO:0000370)176845370368453704Human
407172215GWAS821191_Hunipolar depression QTL GWAS821191 (human)0.0000002unipolar depression176842878268428783Human
596954530GWAS1074049_Hcoronary artery disease QTL GWAS1074049 (human)2e-08coronary artery disease176845093268450933Human
597493799GWAS1589873_Hmajor depressive disorder QTL GWAS1589873 (human)0.000005major depressive disorder176842878268428783Human
407383539GWAS1032515_Hobsolete_red blood cell distribution width QTL GWAS1032515 (human)1e-23obsolete_red blood cell distribution width176845093268450933Human
597221795GWAS1317869_Halkaline phosphatase measurement QTL GWAS1317869 (human)4e-29blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)176845716468457165Human
596974376GWAS1093895_Hvitamin D measurement QTL GWAS1093895 (human)3e-11vitamin D measurement176846827368468274Human
597304410GWAS1400484_Hmean corpuscular hemoglobin concentration QTL GWAS1400484 (human)3e-09erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)176844798468447985Human
597080535GWAS1176609_Hmean corpuscular hemoglobin concentration QTL GWAS1176609 (human)2e-14erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)176843704068437041Human
597114576GWAS1210650_HRed cell distribution width QTL GWAS1210650 (human)2e-26erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)176844778868447789Human
596974661GWAS1094180_Hmajor depressive disorder QTL GWAS1094180 (human)0.000005major depressive disorder176842878268428783Human
597343560GWAS1439634_Hglucose measurement QTL GWAS1439634 (human)5e-12blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)176845128068451281Human
597604171GWAS1661031_HRed cell distribution width QTL GWAS1661031 (human)2e-13erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)176842308868423089Human
596953666GWAS1073185_HRed cell distribution width QTL GWAS1073185 (human)1e-23Red cell distribution width176845093268450933Human
597588809GWAS1645669_Hglucose measurement QTL GWAS1645669 (human)7e-13blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)176845298168452982Human
407405971GWAS1054947_Hobsolete_red blood cell distribution width QTL GWAS1054947 (human)2e-27obsolete_red blood cell distribution width176845093268450933Human
407341465GWAS990441_Hmean corpuscular hemoglobin QTL GWAS990441 (human)8e-09erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)176844746868447469Human
597080008GWAS1176082_HRed cell distribution width QTL GWAS1176082 (human)1e-23erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)176845093268450933Human
597156599GWAS1252673_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1252673 (human)9e-12blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)176845716468457165Human
407255718GWAS904694_Hgenomic measurement QTL GWAS904694 (human)4e-12genomic measurement176850110168501105Human
407347749GWAS996725_Hobsolete_red blood cell distribution width QTL GWAS996725 (human)2e-10obsolete_red blood cell distribution width176845093268450933Human
597327736GWAS1423810_Hbreast density QTL GWAS1423810 (human)0.000005breast density176854681768546818Human
407084704GWAS733680_Hobsolete_red blood cell distribution width QTL GWAS733680 (human)2e-26obsolete_red blood cell distribution width176844778868447789Human
597586552GWAS1643412_Htype 2 diabetes mellitus QTL GWAS1643412 (human)4e-12type 2 diabetes mellitus176845298168452982Human
407303457GWAS952433_Hunipolar depression QTL GWAS952433 (human)6e-08unipolar depression176842820068428201Human
596972402GWAS1091921_Hmajor depressive disorder QTL GWAS1091921 (human)6e-08major depressive disorder176842820068428201Human
407170220GWAS819196_Hunipolar depression QTL GWAS819196 (human)0.000005unipolar depression176842878268428783Human
596976125GWAS1095644_HRed cell distribution width QTL GWAS1095644 (human)2e-26Red cell distribution width176844778868447789Human
407255722GWAS904698_Hgenomic measurement QTL GWAS904698 (human)9e-11genomic measurement176853800468538005Human
597078267GWAS1174341_Hlymphocyte percentage of leukocytes QTL GWAS1174341 (human)2e-09lymphocyte quantity (VT:0000717)blood lymphocyte count to total leukocyte count ratio (CMO:0000371)176845370368453704Human
597604208GWAS1661068_HRed cell distribution width QTL GWAS1661068 (human)1e-26erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)176842308868423089Human
597154937GWAS1251011_Hfree cholesterol:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS1251011 (human)4e-08blood IDL cholesterol amount (VT:0010503)blood intermediate density lipoprotein cholesterol level (CMO:0001562)176842985468429855Human
596949626GWAS1069145_HRed cell distribution width QTL GWAS1069145 (human)5e-10erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)176843229068432291Human
597028859GWAS1124933_HRed cell distribution width QTL GWAS1124933 (human)2e-10erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)176845093268450933Human
597477874GWAS1573948_Hcomparative body size at age 10, self-reported QTL GWAS1573948 (human)1e-08body size trait (VT:0100005)176851300268513003Human
597046649GWAS1142723_HRed cell distribution width QTL GWAS1142723 (human)2e-26erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)176845093268450933Human
597284201GWAS1380275_Hglucose measurement QTL GWAS1380275 (human)3e-17blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)176845234968452350Human
597290602GWAS1386676_Hcoronary artery disease QTL GWAS1386676 (human)2e-08coronary artery integrity trait (VT:0010746)176845093268450933Human
597312237GWAS1408311_Hbilirubin measurement QTL GWAS1408311 (human)2e-10blood bilirubin amount (VT:0001569)serum total bilirubin level (CMO:0000376)176843731568437316Human
597605474GWAS1662334_HRed cell distribution width QTL GWAS1662334 (human)6e-22erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)176842308868423089Human
596977128GWAS1096647_HRed cell distribution width QTL GWAS1096647 (human)2e-10Red cell distribution width176845093268450933Human

Markers in Region
RH70215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,528,685 - 66,528,836UniSTSGRCh37
Build 361764,040,280 - 64,040,431RGDNCBI36
Celera1763,100,475 - 63,100,626RGD
Cytogenetic Map17q23-q24UniSTS
HuRef1761,914,420 - 61,914,571UniSTS
GeneMap99-GB4 RH Map17435.2UniSTS
RH122590  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,518,438 - 66,518,763UniSTSGRCh37
Build 361764,030,033 - 64,030,358RGDNCBI36
Celera1763,090,226 - 63,090,551RGD
Cytogenetic Map17q23-q24UniSTS
HuRef1761,904,171 - 61,904,496UniSTS
TNG Radiation Hybrid Map1730195.0UniSTS
G62011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,528,298 - 66,528,459UniSTSGRCh37
Build 361764,039,893 - 64,040,054RGDNCBI36
Celera1763,100,088 - 63,100,249RGD
Cytogenetic Map17q23-q24UniSTS
HuRef1761,914,033 - 61,914,194UniSTS
G62113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,528,683 - 66,528,805UniSTSGRCh37
Build 361764,040,278 - 64,040,400RGDNCBI36
Celera1763,100,473 - 63,100,595RGD
Cytogenetic Map17q23-q24UniSTS
HuRef1761,914,418 - 61,914,540UniSTS
D17S1496E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,526,807 - 66,526,910UniSTSGRCh37
Build 361764,038,402 - 64,038,505RGDNCBI36
Celera1763,098,597 - 63,098,700RGD
Cytogenetic Map17q23-q24UniSTS
HuRef1761,912,542 - 61,912,645UniSTS
RH36406  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,528,439 - 66,528,554UniSTSGRCh37
Build 361764,040,034 - 64,040,149RGDNCBI36
Celera1763,100,229 - 63,100,344RGD
Cytogenetic Map17q23-q24UniSTS
HuRef1761,914,174 - 61,914,289UniSTS
GeneMap99-GB4 RH Map17435.2UniSTS
PRKAR1A_2228  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,528,316 - 66,529,098UniSTSGRCh37
Build 361764,039,911 - 64,040,693RGDNCBI36
Celera1763,100,106 - 63,100,888RGD
HuRef1761,914,051 - 61,914,833UniSTS
D17S2143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,526,692 - 66,526,874UniSTSGRCh37
Build 361764,038,287 - 64,038,469RGDNCBI36
Celera1763,098,482 - 63,098,664RGD
Cytogenetic Map17q23-q24UniSTS
HuRef1761,912,427 - 61,912,609UniSTS
SHGC-36616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,526,692 - 66,526,769UniSTSGRCh37
Build 361764,038,287 - 64,038,364RGDNCBI36
Celera1763,098,482 - 63,098,559RGD
Cytogenetic Map17q23-q24UniSTS
HuRef1761,912,427 - 61,912,504UniSTS
Stanford-G3 RH Map172979.0UniSTS
NCBI RH Map17717.3UniSTS
GeneMap99-G3 RH Map173480.0UniSTS
STS-D29564  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q23-q24UniSTS
HuRef1761,914,411 - 61,914,563UniSTS
GeneMap99-GB4 RH Map17435.2UniSTS
PRKAR1A  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,521,058 - 66,522,019UniSTSGRCh37
Celera1763,092,846 - 63,093,807UniSTS
HuRef1761,906,791 - 61,907,752UniSTS


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 4972 1726 2351 6 624 1951 465 2268 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_212471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_212472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A12295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA015682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF411298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI074326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL535889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW732104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY007115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM928493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU167718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU188258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA108801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA219203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA413808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ364679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ364680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ364681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ901048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M18468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M33336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y07641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y07642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000358598   ⟹   ENSP00000351410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,512,032 - 68,532,762 (+)Ensembl
Ensembl Acc Id: ENST00000392710   ⟹   ENSP00000376474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,512,450 - 68,532,759 (+)Ensembl
Ensembl Acc Id: ENST00000392711   ⟹   ENSP00000376475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,512,379 - 68,533,423 (+)Ensembl
Ensembl Acc Id: ENST00000536854   ⟹   ENSP00000445625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,512,450 - 68,532,762 (+)Ensembl
Ensembl Acc Id: ENST00000585427   ⟹   ENSP00000464715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,512,412 - 68,531,939 (+)Ensembl
Ensembl Acc Id: ENST00000585460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,512,430 - 68,524,130 (+)Ensembl
Ensembl Acc Id: ENST00000585608   ⟹   ENSP00000466722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,512,426 - 68,525,912 (+)Ensembl
Ensembl Acc Id: ENST00000585815   ⟹   ENSP00000467867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,512,921 - 68,522,774 (+)Ensembl
Ensembl Acc Id: ENST00000585907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,527,584 - 68,530,319 (+)Ensembl
Ensembl Acc Id: ENST00000585981   ⟹   ENSP00000467311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,513,091 - 68,551,318 (+)Ensembl
Ensembl Acc Id: ENST00000586397   ⟹   ENSP00000466459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,514,821 - 68,530,664 (+)Ensembl
Ensembl Acc Id: ENST00000586541   ⟹   ENSP00000465740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,525,882 - 68,530,461 (+)Ensembl
Ensembl Acc Id: ENST00000588178   ⟹   ENSP00000465013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,512,882 - 68,532,762 (+)Ensembl
Ensembl Acc Id: ENST00000588188   ⟹   ENSP00000468106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,512,430 - 68,551,319 (+)Ensembl
Ensembl Acc Id: ENST00000588702   ⟹   ENSP00000464701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,512,467 - 68,524,078 (+)Ensembl
Ensembl Acc Id: ENST00000589017   ⟹   ENSP00000465445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,511,780 - 68,534,550 (+)Ensembl
Ensembl Acc Id: ENST00000589228   ⟹   ENSP00000464977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,512,430 - 68,533,431 (+)Ensembl
Ensembl Acc Id: ENST00000589309   ⟹   ENSP00000467500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,512,487 - 68,515,536 (+)Ensembl
Ensembl Acc Id: ENST00000589480   ⟹   ENSP00000466649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,512,900 - 68,532,762 (+)Ensembl
Ensembl Acc Id: ENST00000592194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,512,415 - 68,515,815 (+)Ensembl
Ensembl Acc Id: ENST00000592800   ⟹   ENSP00000466314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,511,985 - 68,532,621 (+)Ensembl
Ensembl Acc Id: ENST00000686019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,512,436 - 68,532,733 (+)Ensembl
Ensembl Acc Id: ENST00000689501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,522,814 - 68,534,550 (+)Ensembl
Ensembl Acc Id: ENST00000689625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,513,348 - 68,515,576 (+)Ensembl
Ensembl Acc Id: ENST00000691392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,512,422 - 68,534,550 (+)Ensembl
Ensembl Acc Id: ENST00000711037   ⟹   ENSP00000518555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,512,885 - 68,551,319 (+)Ensembl
RefSeq Acc Id: NM_001276289   ⟹   NP_001263218
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,512,430 - 68,533,431 (+)NCBI
GRCh371766,507,921 - 66,547,457 (+)NCBI
HuRef1761,893,655 - 61,933,191 (+)NCBI
CHM1_11766,573,276 - 66,594,328 (+)NCBI
T2T-CHM13v2.01769,389,284 - 69,410,285 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001276290   ⟹   NP_001263219
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,515,394 - 68,551,316 (+)NCBI
GRCh371766,507,921 - 66,547,457 (+)NCBI
HuRef1761,893,655 - 61,933,191 (+)NCBI
CHM1_11766,576,290 - 66,612,184 (+)NCBI
T2T-CHM13v2.01769,392,248 - 69,428,169 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278433   ⟹   NP_001265362
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,413,623 - 68,533,431 (+)NCBI
GRCh371766,507,921 - 66,547,457 (+)NCBI
HuRef1761,893,655 - 61,933,191 (+)NCBI
CHM1_11766,474,424 - 66,594,328 (+)NCBI
T2T-CHM13v2.01769,290,146 - 69,410,285 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001369389   ⟹   NP_001356318
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,512,000 - 68,533,431 (+)NCBI
T2T-CHM13v2.01769,388,854 - 69,410,285 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001369390   ⟹   NP_001356319
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,512,884 - 68,533,431 (+)NCBI
T2T-CHM13v2.01769,389,738 - 69,410,285 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002734   ⟹   NP_002725
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,512,430 - 68,533,431 (+)NCBI
GRCh371766,507,921 - 66,547,457 (+)NCBI
Build 361764,020,138 - 64,040,506 (+)NCBI Archive
HuRef1761,893,655 - 61,933,191 (+)NCBI
CHM1_11766,573,276 - 66,594,328 (+)NCBI
T2T-CHM13v2.01769,389,284 - 69,410,285 (+)NCBI
Sequence:
RefSeq Acc Id: NM_212471   ⟹   NP_997636
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,512,000 - 68,533,431 (+)NCBI
Build 361764,019,705 - 64,040,506 (+)NCBI Archive
HuRef1761,893,655 - 61,933,191 (+)NCBI
CHM1_11766,572,677 - 66,594,328 (+)NCBI
T2T-CHM13v2.01769,388,854 - 69,410,285 (+)NCBI
Sequence:
RefSeq Acc Id: NM_212472   ⟹   NP_997637
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,512,379 - 68,533,431 (+)NCBI
GRCh371766,507,921 - 66,547,457 (+)NCBI
Build 361764,020,138 - 64,040,506 (+)NCBI Archive
HuRef1761,893,655 - 61,933,191 (+)NCBI
CHM1_11766,573,276 - 66,594,328 (+)NCBI
T2T-CHM13v2.01769,389,233 - 69,410,285 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524984   ⟹   XP_011523286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,512,884 - 68,533,431 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047436369   ⟹   XP_047292325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,512,430 - 68,533,431 (+)NCBI
RefSeq Acc Id: XM_047436370   ⟹   XP_047292326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,512,728 - 68,533,431 (+)NCBI
RefSeq Acc Id: XM_054316636   ⟹   XP_054172611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01769,389,738 - 69,410,285 (+)NCBI
RefSeq Acc Id: XM_054316637   ⟹   XP_054172612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01769,389,256 - 69,410,285 (+)NCBI
RefSeq Acc Id: XM_054316638   ⟹   XP_054172613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01769,389,564 - 69,410,285 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001263218 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263219 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265362 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356318 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356319 (Get FASTA)   NCBI Sequence Viewer  
  NP_002725 (Get FASTA)   NCBI Sequence Viewer  
  NP_997636 (Get FASTA)   NCBI Sequence Viewer  
  NP_997637 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523286 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292325 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292326 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172611 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172612 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172613 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB50921 (Get FASTA)   NCBI Sequence Viewer  
  AAB50922 (Get FASTA)   NCBI Sequence Viewer  
  AAH36285 (Get FASTA)   NCBI Sequence Viewer  
  AAH93042 (Get FASTA)   NCBI Sequence Viewer  
  AAL05860 (Get FASTA)   NCBI Sequence Viewer  
  ABC96005 (Get FASTA)   NCBI Sequence Viewer  
  ABC96006 (Get FASTA)   NCBI Sequence Viewer  
  ABC96007 (Get FASTA)   NCBI Sequence Viewer  
  ADO22565 (Get FASTA)   NCBI Sequence Viewer  
  BAG35232 (Get FASTA)   NCBI Sequence Viewer  
  BAG53489 (Get FASTA)   NCBI Sequence Viewer  
  CAA01027 (Get FASTA)   NCBI Sequence Viewer  
  CAA68925 (Get FASTA)   NCBI Sequence Viewer  
  CAH18166 (Get FASTA)   NCBI Sequence Viewer  
  EAW89060 (Get FASTA)   NCBI Sequence Viewer  
  EAW89061 (Get FASTA)   NCBI Sequence Viewer  
  EAW89062 (Get FASTA)   NCBI Sequence Viewer  
  EAW89063 (Get FASTA)   NCBI Sequence Viewer  
  EAW89064 (Get FASTA)   NCBI Sequence Viewer  
  EAW89065 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000351410
  ENSP00000351410.1
  ENSP00000376475
  ENSP00000376475.1
  ENSP00000445625
  ENSP00000445625.1
  ENSP00000464715.2
  ENSP00000464977
  ENSP00000464977.2
  ENSP00000465013
  ENSP00000465013.2
  ENSP00000465445
  ENSP00000465445.2
  ENSP00000466459
  ENSP00000466459.1
  ENSP00000466649
  ENSP00000466649.2
  ENSP00000467311.2
  ENSP00000468106.2
  ENSP00000518555
  ENSP00000518555.1
GenBank Protein P10644 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_997636   ⟸   NM_212471
- Peptide Label: isoform a
- UniProtKB: K7ER48 (UniProtKB/Swiss-Prot),   Q567S7 (UniProtKB/Swiss-Prot),   P10644 (UniProtKB/Swiss-Prot),   B2R5T5 (UniProtKB/TrEMBL),   Q68DQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_997637   ⟸   NM_212472
- Peptide Label: isoform a
- UniProtKB: K7ER48 (UniProtKB/Swiss-Prot),   Q567S7 (UniProtKB/Swiss-Prot),   P10644 (UniProtKB/Swiss-Prot),   B2R5T5 (UniProtKB/TrEMBL),   Q68DQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002725   ⟸   NM_002734
- Peptide Label: isoform a
- UniProtKB: K7ER48 (UniProtKB/Swiss-Prot),   Q567S7 (UniProtKB/Swiss-Prot),   P10644 (UniProtKB/Swiss-Prot),   B2R5T5 (UniProtKB/TrEMBL),   Q68DQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001263218   ⟸   NM_001276289
- Peptide Label: isoform a
- UniProtKB: K7ER48 (UniProtKB/Swiss-Prot),   Q567S7 (UniProtKB/Swiss-Prot),   P10644 (UniProtKB/Swiss-Prot),   B2R5T5 (UniProtKB/TrEMBL),   Q68DQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265362   ⟸   NM_001278433
- Peptide Label: isoform a
- UniProtKB: K7ER48 (UniProtKB/Swiss-Prot),   Q567S7 (UniProtKB/Swiss-Prot),   P10644 (UniProtKB/Swiss-Prot),   B2R5T5 (UniProtKB/TrEMBL),   Q68DQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001263219   ⟸   NM_001276290
- Peptide Label: isoform b
- UniProtKB: K7EM13 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523286   ⟸   XM_011524984
- Peptide Label: isoform X1
- UniProtKB: K7ER48 (UniProtKB/Swiss-Prot),   Q567S7 (UniProtKB/Swiss-Prot),   P10644 (UniProtKB/Swiss-Prot),   B2R5T5 (UniProtKB/TrEMBL),   Q68DQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001356318   ⟸   NM_001369389
- Peptide Label: isoform a
- UniProtKB: P10644 (UniProtKB/Swiss-Prot),   K7ER48 (UniProtKB/Swiss-Prot),   Q567S7 (UniProtKB/Swiss-Prot),   B2R5T5 (UniProtKB/TrEMBL),   Q68DQ4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356319   ⟸   NM_001369390
- Peptide Label: isoform a
- UniProtKB: P10644 (UniProtKB/Swiss-Prot),   K7ER48 (UniProtKB/Swiss-Prot),   Q567S7 (UniProtKB/Swiss-Prot),   B2R5T5 (UniProtKB/TrEMBL),   Q68DQ4 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000467867   ⟸   ENST00000585815
Ensembl Acc Id: ENSP00000466722   ⟸   ENST00000585608
Ensembl Acc Id: ENSP00000467311   ⟸   ENST00000585981
Ensembl Acc Id: ENSP00000464715   ⟸   ENST00000585427
Ensembl Acc Id: ENSP00000465740   ⟸   ENST00000586541
Ensembl Acc Id: ENSP00000466459   ⟸   ENST00000586397
Ensembl Acc Id: ENSP00000465013   ⟸   ENST00000588178
Ensembl Acc Id: ENSP00000468106   ⟸   ENST00000588188
Ensembl Acc Id: ENSP00000464701   ⟸   ENST00000588702
Ensembl Acc Id: ENSP00000467500   ⟸   ENST00000589309
Ensembl Acc Id: ENSP00000464977   ⟸   ENST00000589228
Ensembl Acc Id: ENSP00000465445   ⟸   ENST00000589017
Ensembl Acc Id: ENSP00000466649   ⟸   ENST00000589480
Ensembl Acc Id: ENSP00000445625   ⟸   ENST00000536854
Ensembl Acc Id: ENSP00000376475   ⟸   ENST00000392711
Ensembl Acc Id: ENSP00000376474   ⟸   ENST00000392710
Ensembl Acc Id: ENSP00000466314   ⟸   ENST00000592800
Ensembl Acc Id: ENSP00000351410   ⟸   ENST00000358598
RefSeq Acc Id: XP_047292325   ⟸   XM_047436369
- Peptide Label: isoform X1
- UniProtKB: P10644 (UniProtKB/Swiss-Prot),   K7ER48 (UniProtKB/Swiss-Prot),   Q567S7 (UniProtKB/Swiss-Prot),   Q68DQ4 (UniProtKB/TrEMBL),   B2R5T5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292326   ⟸   XM_047436370
- Peptide Label: isoform X1
- UniProtKB: P10644 (UniProtKB/Swiss-Prot),   K7ER48 (UniProtKB/Swiss-Prot),   Q567S7 (UniProtKB/Swiss-Prot),   Q68DQ4 (UniProtKB/TrEMBL),   B2R5T5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172612   ⟸   XM_054316637
- Peptide Label: isoform X1
- UniProtKB: P10644 (UniProtKB/Swiss-Prot),   K7ER48 (UniProtKB/Swiss-Prot),   Q567S7 (UniProtKB/Swiss-Prot),   Q68DQ4 (UniProtKB/TrEMBL),   B2R5T5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172613   ⟸   XM_054316638
- Peptide Label: isoform X1
- UniProtKB: K7ER48 (UniProtKB/Swiss-Prot),   P10644 (UniProtKB/Swiss-Prot),   Q567S7 (UniProtKB/Swiss-Prot),   Q68DQ4 (UniProtKB/TrEMBL),   B2R5T5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172611   ⟸   XM_054316636
- Peptide Label: isoform X1
- UniProtKB: P10644 (UniProtKB/Swiss-Prot),   K7ER48 (UniProtKB/Swiss-Prot),   Q567S7 (UniProtKB/Swiss-Prot),   Q68DQ4 (UniProtKB/TrEMBL),   B2R5T5 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000518555   ⟸   ENST00000711037
Protein Domains
Cyclic nucleotide-binding   RIIa

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P10644-F1-model_v2 AlphaFold P10644 1-381 view protein structure

Promoters
RGD ID:6794446
Promoter ID:HG_KWN:26941
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_002734,   NM_212471,   NM_212472,   UC002JHJ.1,   UC002JHK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361764,019,611 - 64,020,262 (+)MPROMDB
RGD ID:6851800
Promoter ID:EP73705
Type:initiation region
Name:HS_PRKAR1A
Description:Protein kinase, cAMP-dependent, regulatory, type I, alpha (tissuespecific extinguisher 1).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361764,020,183 - 64,020,243EPD
RGD ID:7236125
Promoter ID:EPDNEW_H23808
Type:initiation region
Name:PRKAR1A_2
Description:protein kinase cAMP-dependent type I regulatory subunit alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23809  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,512,000 - 68,512,060EPDNEW
RGD ID:7236127
Promoter ID:EPDNEW_H23809
Type:initiation region
Name:PRKAR1A_1
Description:protein kinase cAMP-dependent type I regulatory subunit alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23808  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,512,430 - 68,512,490EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9388 AgrOrtholog
COSMIC PRKAR1A COSMIC
Ensembl Genes ENSG00000108946 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000358598 ENTREZGENE
  ENST00000358598.6 UniProtKB/Swiss-Prot
  ENST00000392711 ENTREZGENE
  ENST00000392711.5 UniProtKB/Swiss-Prot
  ENST00000536854 ENTREZGENE
  ENST00000536854.6 UniProtKB/Swiss-Prot
  ENST00000585427.6 UniProtKB/Swiss-Prot
  ENST00000585981.6 UniProtKB/Swiss-Prot
  ENST00000586397 ENTREZGENE
  ENST00000586397.5 UniProtKB/Swiss-Prot
  ENST00000588178 ENTREZGENE
  ENST00000588178.6 UniProtKB/Swiss-Prot
  ENST00000588188.7 UniProtKB/Swiss-Prot
  ENST00000589017 ENTREZGENE
  ENST00000589017.6 UniProtKB/Swiss-Prot
  ENST00000589228 ENTREZGENE
  ENST00000589228.6 UniProtKB/Swiss-Prot
  ENST00000589480 ENTREZGENE
  ENST00000589480.6 UniProtKB/Swiss-Prot
  ENST00000711037 ENTREZGENE
  ENST00000711037.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.10 UniProtKB/Swiss-Prot
  cAMP-dependent protein kinase regulatory subunit, dimerization-anchoring domain UniProtKB/Swiss-Prot
GTEx ENSG00000108946 GTEx
HGNC ID HGNC:9388 ENTREZGENE
Human Proteome Map PRKAR1A Human Proteome Map
InterPro cAMP-dep_kinase_reg_chain UniProtKB/Swiss-Prot
  cAMP_dep_PK_reg_su UniProtKB/Swiss-Prot
  cAMP_dep_PK_reg_su_I/II_a/b UniProtKB/Swiss-Prot
  cNMP-bd-like UniProtKB/Swiss-Prot
  cNMP-bd_CS UniProtKB/Swiss-Prot
  cNMP-bd_dom UniProtKB/Swiss-Prot
  RmlC-like_jellyroll UniProtKB/Swiss-Prot
KEGG Report hsa:5573 UniProtKB/Swiss-Prot
NCBI Gene 5573 ENTREZGENE
OMIM 188830 OMIM
PANTHER CAMP-DEPENDENT PROTEIN KINASE REGULATORY CHAIN UniProtKB/Swiss-Prot
  CAMP-DEPENDENT PROTEIN KINASE TYPE I-ALPHA REGULATORY SUBUNIT UniProtKB/Swiss-Prot
Pfam cNMP_binding UniProtKB/Swiss-Prot
  RIIa UniProtKB/Swiss-Prot
PharmGKB PA33754 PharmGKB
PIRSF PK_regulatory UniProtKB/Swiss-Prot
PRINTS CAMPKINASE UniProtKB/Swiss-Prot
PROSITE CNMP_BINDING_1 UniProtKB/Swiss-Prot
  CNMP_BINDING_2 UniProtKB/Swiss-Prot
  CNMP_BINDING_3 UniProtKB/Swiss-Prot
SMART cNMP UniProtKB/Swiss-Prot
  RIIa UniProtKB/Swiss-Prot
Superfamily-SCOP Dimerization-anchoring domain of cAMP-dependent PK regulatory subunit UniProtKB/Swiss-Prot
  SSF51206 UniProtKB/Swiss-Prot
UniProt A1XGZ0_HUMAN UniProtKB/TrEMBL
  B2R5T5 ENTREZGENE, UniProtKB/TrEMBL
  K7EIE5_HUMAN UniProtKB/TrEMBL
  K7EJ40_HUMAN UniProtKB/TrEMBL
  K7EK41_HUMAN UniProtKB/TrEMBL
  K7EKR1_HUMAN UniProtKB/TrEMBL
  K7EM13 ENTREZGENE, UniProtKB/TrEMBL
  K7EMU2_HUMAN UniProtKB/TrEMBL
  K7EMZ6_HUMAN UniProtKB/TrEMBL
  K7EPB2_HUMAN UniProtKB/TrEMBL
  K7EPR5_HUMAN UniProtKB/TrEMBL
  K7EQK3_HUMAN UniProtKB/TrEMBL
  K7ER48 ENTREZGENE
  KAP0_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q567S7 ENTREZGENE
  Q68DQ4 ENTREZGENE, UniProtKB/TrEMBL
  Q96P62_HUMAN UniProtKB/TrEMBL
  X6RAV4_HUMAN UniProtKB/TrEMBL
UniProt Secondary K7ER48 UniProtKB/Swiss-Prot
  Q567S7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 PRKAR1A  protein kinase cAMP-dependent type I regulatory subunit alpha  PRKAR1A  protein kinase, cAMP-dependent, regulatory subunit type I alpha  Symbol and/or name change 5135510 APPROVED
2015-11-24 PRKAR1A  protein kinase, cAMP-dependent, regulatory subunit type I alpha  PRKAR1A  protein kinase, cAMP-dependent, regulatory, type I, alpha  Symbol and/or name change 5135510 APPROVED
2012-08-07 PRKAR1A  protein kinase, cAMP-dependent, regulatory, type I, alpha  PRKAR1A  protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)  Symbol and/or name change 5135510 APPROVED