RET (ret proto-oncogene) - Rat Genome Database

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Gene: RET (ret proto-oncogene) Homo sapiens
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Symbol: RET
Name: ret proto-oncogene
RGD ID: 735296
HGNC Page HGNC:9967
Description: Enables calcium ion binding activity and transmembrane receptor protein tyrosine kinase activity. Involved in several processes, including cellular response to retinoic acid; neuron cell-cell adhesion; and positive regulation of signal transduction. Located in endosome membrane. Part of plasma membrane protein complex and receptor complex. Is active in plasma membrane. Implicated in several diseases, including Hirschsprung's disease; familial medullary thyroid carcinoma; multiple endocrine neoplasia type 2A; multiple endocrine neoplasia type 2B; and pheochromocytoma. Biomarker of pancreatic cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cadherin family member 12; cadherin-related family member 16; CDHF12; CDHR16; CUX1/RET fusion; HSCR1; hydroxyaryl-protein kinase; MEN2A; MEN2B; MTC1; proto-oncogene c-Ret; proto-oncogene tyrosine-protein kinase receptor Ret; PTC; rearranged during transfection; receptor tyrosine kinase; ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease); RET receptor tyrosine kinase; RET transforming sequence; RET-ELE1; RET51
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381043,077,069 - 43,130,351 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1043,077,064 - 43,130,351 (+)EnsemblGRCh38hg38GRCh38
GRCh371043,572,517 - 43,625,799 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361042,892,523 - 42,945,805 (+)NCBINCBI36Build 36hg18NCBI36
Build 341042,892,532 - 42,944,955NCBI
Celera1039,575,663 - 39,628,954 (+)NCBICelera
Cytogenetic Map10q11.21NCBI
HuRef1040,098,756 - 40,151,896 (+)NCBIHuRef
CHM1_11043,611,715 - 43,665,000 (+)NCBICHM1_1
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
appendicitis  (IAGP)
Brain Injuries  (ISO)
brain ischemia  (ISO)
breast cancer  (IAGP)
Breast Cancer, Familial  (IAGP)
breast carcinoma  (IAGP)
Burkitt lymphoma  (EXP)
CAKUT  (IAGP)
clubfoot  (ISS)
colorectal cancer  (IAGP)
Colorectal Neoplasms  (EXP)
congenital central hypoventilation syndrome  (EXP,IAGP)
Constipation  (IAGP)
Deafness  (ISO)
diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype  (IAGP)
disease of cellular proliferation  (IAGP)
Dwarfism  (IAGP)
extraosseous Ewing sarcoma  (IAGP)
Facial Nerve Injuries  (ISO)
Familial Amyloidosis  (EXP)
familial medullary thyroid carcinoma  (EXP,IAGP)
genetic disease  (IAGP)
gingival overgrowth  (IAGP)
hepatocellular carcinoma  (HEP,IAGP)
hereditary breast ovarian cancer syndrome  (IAGP)
Hereditary Neoplastic Syndromes  (IAGP)
high grade glioma  (IAGP)
Hirschsprung Disease 1  (IAGP)
Hirschsprung's disease  (EXP,IAGP,ISS)
Hypertelorism  (IAGP)
Hypoglossal Nerve Injuries  (ISO)
hypothyroidism  (IAGP)
Islet Cell Tumor Syndrome  (IAGP)
Joint Instability  (IAGP)
Lymphatic Metastasis  (IEP)
Medullary Carcinomas  (EXP)
medulloblastoma  (IAGP)
megacolon  (IAGP)
microcephaly  (IAGP)
multiple endocrine neoplasia  (EXP,IAGP)
multiple endocrine neoplasia type 1  (IAGP)
multiple endocrine neoplasia type 2A  (EXP,IAGP)
multiple endocrine neoplasia type 2B  (EXP,IAGP,ISS)
multiple endocrine neoplasia type 4  (IAGP)
ovarian cancer  (IAGP)
pancreatic cancer  (IEP)
Parkinsonism  (ISO)
pheochromocytoma  (EXP,IAGP,ISO,ISS)
pilocytic astrocytoma  (IAGP)
renal agenesis  (EXP,IAGP)
Renal Hypodysplasia/Aplasia 1  (IAGP)
renal hypoplasia  (IAGP)
status epilepticus  (EXP)
tetralogy of Fallot  (IAGP)
thyroid gland carcinoma  (IAGP)
thyroid gland medullary carcinoma  (EXP,IAGP)
thyroid gland papillary carcinoma  (EXP)
Thyroid Neoplasms  (EXP,IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-anisomycin  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
aldrin  (EXP)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bucladesine  (EXP)
butanal  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
camptothecin  (ISO)
chlordecone  (ISO)
chlorpyrifos  (ISO)
cisplatin  (ISO)
clomiphene  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
cycloheximide  (ISO)
D-glucose  (ISO)
dabigatran  (ISO)
DDD  (EXP)
DDE  (EXP)
DDT  (EXP)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
diazinon  (ISO)
dichromium trioxide  (EXP)
diclofenac  (ISO)
dieldrin  (EXP,ISO)
diethylstilbestrol  (EXP)
dorsomorphin  (EXP)
endosulfan  (ISO)
endrin  (EXP)
Enterolactone  (EXP)
entinostat  (EXP)
estrone  (EXP)
ethanol  (ISO)
fonofos  (EXP)
fulvestrant  (EXP)
gamma-hexachlorocyclohexane  (EXP)
genistein  (EXP,ISO)
glucose  (ISO)
glyphosate  (ISO)
graphite  (ISO)
Indeno[1,2,3-cd]pyrene  (EXP)
irbesartan  (EXP)
ivermectin  (EXP)
L-cysteine  (EXP)
lead diacetate  (EXP,ISO)
lipopolysaccharide  (EXP)
lithium atom  (ISO)
lithium hydride  (ISO)
manganese(II) chloride  (ISO)
Meclizine  (EXP)
medroxyprogesterone acetate  (EXP)
megestrol  (EXP)
mercury dibromide  (EXP)
mestranol  (EXP)
methapyrilene  (EXP)
Methazolamide  (EXP)
methimazole  (ISO)
methylmercury chloride  (EXP)
methylphenidate  (ISO)
mifepristone  (ISO)
N-(3-methyl-5-sulfamoyl-1,3,4-thiadiazol-2-ylidene)acetamide  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
oxaliplatin  (ISO)
oxidopamine  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (ISO)
parathion  (EXP)
PCB138  (ISO)
pentanal  (EXP)
phenethyl caffeate  (ISO)
phenylmercury acetate  (EXP)
picene  (EXP)
pinostrobin  (EXP)
ponatinib  (EXP)
propanal  (EXP)
Ptaquiloside  (ISO)
raloxifene  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
simvastatin  (EXP)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
sorafenib  (EXP)
staurosporine  (ISO)
sulindac  (EXP)
tamoxifen  (EXP)
tebuconazole  (EXP)
terbufos  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vandetanib  (EXP)
verapamil  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
axon guidance  (TAS)
cell adhesion  (IEA)
cell surface receptor protein tyrosine kinase signaling pathway  (IEA,ISO)
cellular response to retinoic acid  (IMP)
embryonic epithelial tube formation  (IEA,ISO)
enteric nervous system development  (IEA,ISO)
GDF15-GFRAL signaling pathway  (IDA)
glial cell-derived neurotrophic factor receptor signaling pathway  (IDA)
homophilic cell adhesion via plasma membrane adhesion molecules  (IEA)
innervation  (IEA,ISO)
lymphocyte migration into lymphoid organs  (ISS)
MAPK cascade  (IEA,ISO)
membrane protein proteolysis  (IDA)
nervous system development  (IEA,ISO)
neural crest cell migration  (IEA,ISO)
neuron cell-cell adhesion  (IEA,IMP)
neuron differentiation  (IEA,ISO)
neuron maturation  (IEA,ISO)
Peyer's patch morphogenesis  (IEA,ISS)
positive regulation of cell adhesion mediated by integrin  (IDA)
positive regulation of cell migration  (IDA)
positive regulation of cell size  (IEA,ISO)
positive regulation of DNA-templated transcription  (IEA,ISS)
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand  (IMP,TAS)
positive regulation of gene expression  (IEA,ISO)
positive regulation of MAPK cascade  (IDA,IMP)
positive regulation of metanephric glomerulus development  (IEA,ISS)
positive regulation of neuron maturation  (IEA,ISO)
positive regulation of neuron projection development  (IMP)
positive regulation of peptidyl-serine phosphorylation of STAT protein  (IEA,ISO)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IMP)
posterior midgut development  (TAS)
regulation of axonogenesis  (IEA,ISO)
regulation of cell adhesion  (IDA)
response to pain  (IEA,ISS)
response to xenobiotic stimulus  (IEA,ISO)
retina development in camera-type eye  (IEA,ISO)
signal transduction  (TAS)
ureter maturation  (IEA,ISO)
ureteric bud development  (IEA,ISO)

Cellular Component
axon  (IBA,IEA,ISO)
dendrite  (IEA,ISO)
early endosome  (IEA,ISO)
endosome  (IEA)
endosome membrane  (IDA,IEA)
membrane  (IEA)
neuronal cell body  (IEA,ISO)
plasma membrane  (IBA,IDA,IEA,TAS)
plasma membrane protein complex  (IDA)
receptor complex  (IBA,IDA,IEA)

Molecular Function

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

Human Phenotype
Abdominal distention  (IAGP)
Abdominal pain  (IAGP)
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal enteric ganglion morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal intestine morphology  (IAGP)
Abnormal morphology of female internal genitalia  (IAGP)
Abnormal sacrum morphology  (IAGP)
Abnormality of the integument  (IAGP)
Adducted thumb  (IAGP)
Adrenal pheochromocytoma  (IAGP)
Aganglionic megacolon  (IAGP)
Aniridia  (IAGP)
Appendicitis  (IAGP)
Arachnoid hemangiomatosis  (IAGP)
Autosomal dominant inheritance  (IAGP)
Breast carcinoma  (IAGP)
Breathing dysregulation  (IAGP)
Cafe-au-lait spot  (IAGP)
Central hypoventilation  (IAGP)
Central sleep apnea  (IAGP)
Cerebral hemorrhage  (IAGP)
Chest pain  (IAGP)
Cleft palate  (IAGP)
Colon cancer  (IAGP)
Colonic diverticula  (IAGP)
Conductive hearing impairment  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Cranial nerve compression  (IAGP)
Cutaneous lichen amyloidosis  (IAGP)
Death in infancy  (IAGP)
Decreased fetal movement  (IAGP)
Depressed nasal ridge  (IAGP)
Developmental cataract  (IAGP)
Diarrhea  (IAGP)
Disproportionate tall stature  (IAGP)
Dysphonia  (IAGP)
Elevated circulating calcitonin concentration  (IAGP)
Elevated urinary dopamine level  (IAGP)
Elevated urinary epinephrine level  (IAGP)
Elevated urinary norepinephrine level  (IAGP)
Elevated urinary vanillylmandelic acid  (IAGP)
Enterocolitis  (IAGP)
Ependymoma  (IAGP)
Epicanthus  (IAGP)
Episodic abdominal pain  (IAGP)
Episodic hyperhidrosis  (IAGP)
Episodic hypertension  (IAGP)
Episodic paroxysmal anxiety  (IAGP)
Extraadrenal pheochromocytoma  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Family history of cancer  (IAGP)
Fatigue  (IAGP)
Fetal polyuria  (IAGP)
Flushing  (IAGP)
Functional abnormality of the gastrointestinal tract  (IAGP)
Ganglioneuroma  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Gingival overgrowth  (IAGP)
Global developmental delay  (IAGP)
Glomerular sclerosis  (IAGP)
Headache  (IAGP)
Hemangioma  (IAGP)
Hematuria  (IAGP)
Hepatocellular carcinoma  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hypercalcemia  (IAGP)
Hyperhidrosis  (IAGP)
Hyperlordosis  (IAGP)
Hyperparathyroidism  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertension associated with pheochromocytoma  (IAGP)
Hypertensive retinopathy  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Increased circulating cortisol level  (IAGP)
Increased cystatin C level  (IAGP)
Intellectual disability  (IAGP)
Intestinal obstruction  (IAGP)
Intestinal polyposis  (IAGP)
Joint hypermobility  (IAGP)
Kyphosis  (IAGP)
Low-set ears  (IAGP)
Medullary thyroid carcinoma  (IAGP)
Medulloblastoma  (IAGP)
Microcephaly  (IAGP)
Myopathy  (IAGP)
Nausea  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the thyroid gland  (IAGP)
Neuroblastoma  (IAGP)
Nodular goiter  (IAGP)
Non-midline cleft of the upper lip  (IAGP)
Nonketotic hypoglycemia  (IAGP)
Oligohydramnios  (IAGP)
Ovarian neoplasm  (IAGP)
Pallor  (IAGP)
Palpitations  (IAGP)
Panic attack  (IAGP)
Paraganglioma  (IAGP)
Paraganglioma of head and neck  (IAGP)
Parathyroid adenoma  (IAGP)
Parathyroid hyperplasia  (IAGP)
Paroxysmal vertigo  (IAGP)
Pectus excavatum  (IAGP)
Pes cavus  (IAGP)
Pheochromocytoma  (IAGP)
Pilocytic astrocytoma  (IAGP)
Polyhydramnios  (IAGP)
Positive regitine blocking test  (IAGP)
Proteinuria  (IAGP)
Proximal femoral epiphysiolysis  (IAGP)
Pulmonary hypoplasia  (IAGP)
Pulsatile tinnitus  (IAGP)
Recurrent paroxysmal headache  (IAGP)
Renal agenesis  (IAGP)
Renal artery stenosis  (IAGP)
Renal cell carcinoma  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Retinal capillary hemangioma  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sepsis  (IAGP)
Short stature  (IAGP)
Sinus tachycardia  (IAGP)
Sirenomelia  (IAGP)
Small for gestational age  (IAGP)
Strabismus  (IAGP)
Tachycardia  (IAGP)
Tetralogy of Fallot  (IAGP)
Thick eyebrow  (IAGP)
Thick lower lip vermilion  (IAGP)
Thick vermilion border  (IAGP)
Thyroid C cell hyperplasia  (IAGP)
Thyroid carcinoma  (IAGP)
Tracheoesophageal fistula  (IAGP)
Tremor  (IAGP)
Urogenital fistula  (IAGP)
Vocal cord paralysis  (IAGP)
Vomiting  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Up-regulation of GDNFR-alpha and c-ret mRNA in facial motor neurons following facial nerve injury in the rat. Burazin TC and Gundlach AL, Brain Res Mol Brain Res. 1998 Apr;55(2):331-6.
2. Time-course of GDNF and its receptor expression after brain injury in the rat. Cheng Q, etal., Neurosci Lett. 2008 Jul 4;439(1):24-9. Epub 2008 May 1.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Expression of glial cell line-derived neurotrophic factor family members and their receptors in pancreatic cancers. Ito Y, etal., Surgery. 2005 Oct;138(4):788-94.
5. Induction of glial cell line-derived neurotrophic factor receptor proteins in cerebral cortex and striatum after permanent middle cerebral artery occlusion in rats. Kitagawa H, etal., Brain Res. 1999 Jul 10;834(1-2):190-5.
6. Regulation of c-Ret, GFRalpha1, and GFRalpha2 in the substantia nigra pars compacta in a rat model of Parkinson's disease. Marco S, etal., J Neurobiol. 2002 Sep 15;52(4):343-51.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. Adrenergic differentiation and Ret expression in rat pheochromocytomas. Powers JF, etal., Endocr Pathol. 2008 Spring;19(1):9-16.
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Discordant expression of c-Ret and glial cell line-derived neurotrophic factor receptor alpha-1 mRNAs in response to motor nerve injury in neonate rats. Tsujino H, etal., Brain Res Mol Brain Res. 1999 Jul 5;70(2):298-303.
14. RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease. Vaclavikova E, etal., PLoS One. 2014 Jun 4;9(6):e98957. doi: 10.1371/journal.pone.0098957. eCollection 2014.
15. Upregulation of glial cell line-derived neurotrophic factor and artemin mRNA in the auditory nerve of deafened rats. Wissel K, etal., Neuroreport. 2006 Jun 26;17(9):875-8.
16. TP53 and RET may serve as biomarkers of prognostic evaluation and targeted therapy in hepatocellular carcinoma. Ye S, etal., Oncol Rep. 2017 Apr;37(4):2215-2226. doi: 10.3892/or.2017.5494. Epub 2017 Mar 8.
17. The relationship between overexpression of glial cell-derived neurotrophic factor and its RET receptor with progression and prognosis of human pancreatic cancer. Zeng Q, etal., J Int Med Res. 2008 Jul-Aug;36(4):656-64.
18. A common RET variant is associated with reduced newborn kidney size and function. Zhang Z, etal., J Am Soc Nephrol. 2008 Oct;19(10):2027-34. doi: 10.1681/ASN.2007101098.
19. Diagnosis and surgical treatment of multiple endocrine neoplasia. Zhou GW, etal., Chin Med J (Engl). 2009 Jul 5;122(13):1495-500.
Additional References at PubMed
PMID:1350670   PMID:1569189   PMID:1611909   PMID:1678508   PMID:2181380   PMID:2310396   PMID:2406025   PMID:2660074   PMID:2687772   PMID:2734021   PMID:3037315   PMID:3078962  
PMID:3697657   PMID:6745938   PMID:7478523   PMID:7581377   PMID:7595169   PMID:7633441   PMID:7665556   PMID:7675449   PMID:7678053   PMID:7704557   PMID:7731689   PMID:7784092  
PMID:7824936   PMID:7845675   PMID:7849700   PMID:7849720   PMID:7860065   PMID:7874109   PMID:7881414   PMID:7902707   PMID:7906417   PMID:7906866   PMID:7907913   PMID:7911697  
PMID:7914213   PMID:7915165   PMID:7977365   PMID:8084609   PMID:8099202   PMID:8103403   PMID:8114938   PMID:8114939   PMID:8183561   PMID:8401580   PMID:8557249   PMID:8595427  
PMID:8621380   PMID:8625130   PMID:8626834   PMID:8628282   PMID:8631863   PMID:8674117   PMID:8757765   PMID:8806699   PMID:8807338   PMID:8889548   PMID:8918855   PMID:9043870  
PMID:9047383   PMID:9047384   PMID:9067749   PMID:9090527   PMID:9094028   PMID:9097963   PMID:9111992   PMID:9111993   PMID:9150387   PMID:9192898   PMID:9223675   PMID:9259198  
PMID:9294615   PMID:9359036   PMID:9360560   PMID:9384613   PMID:9393871   PMID:9398735   PMID:9426223   PMID:9497256   PMID:9502784   PMID:9506724   PMID:9575150   PMID:9620546  
PMID:9621513   PMID:9677065   PMID:9700200   PMID:9727738   PMID:9740802   PMID:9760196   PMID:9802801   PMID:9840920   PMID:9880212   PMID:9915833   PMID:10024437   PMID:10070972  
PMID:10090908   PMID:10208419   PMID:10233362   PMID:10323403   PMID:10439047   PMID:10445857   PMID:10484767   PMID:10521317   PMID:10522989   PMID:10545102   PMID:10612852   PMID:10618407  
PMID:10652352   PMID:10774729   PMID:10777380   PMID:10826520   PMID:10829012   PMID:10850414   PMID:10921886   PMID:10922382   PMID:10980597   PMID:10982477   PMID:10995764   PMID:11061555  
PMID:11116144   PMID:11121408   PMID:11238493   PMID:11295841   PMID:11360177   PMID:11390647   PMID:11445581   PMID:11470823   PMID:11536047   PMID:11581189   PMID:11589684   PMID:11692159  
PMID:11694544   PMID:11746981   PMID:11788682   PMID:11803116   PMID:11839664   PMID:11883863   PMID:11886862   PMID:11900218   PMID:11927965   PMID:11932300   PMID:11932334   PMID:11935126  
PMID:11949835   PMID:11950855   PMID:11953745   PMID:11953748   PMID:11955539   PMID:11973622   PMID:11979448   PMID:12000816   PMID:12056817   PMID:12057919   PMID:12085189   PMID:12086152  
PMID:12087092   PMID:12114746   PMID:12161537   PMID:12176011   PMID:12182057   PMID:12182058   PMID:12187076   PMID:12193298   PMID:12214285   PMID:12242309   PMID:12355085   PMID:12439935  
PMID:12466368   PMID:12474140   PMID:12477932   PMID:12490841   PMID:12519890   PMID:12608895   PMID:12632375   PMID:12637586   PMID:12640453   PMID:12670889   PMID:12720173   PMID:12720532  
PMID:12727845   PMID:12767512   PMID:12787916   PMID:12788868   PMID:12841548   PMID:12872262   PMID:12881714   PMID:12884527   PMID:12939698   PMID:12959980   PMID:14508694   PMID:14555929  
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PMID:15138456   PMID:15142370   PMID:15225646   PMID:15231654   PMID:15240649   PMID:15240857   PMID:15271413   PMID:15273715   PMID:15277225   PMID:15286081   PMID:15292360   PMID:15297606  
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PMID:15583857   PMID:15588985   PMID:15592804   PMID:15632018   PMID:15633231   PMID:15643606   PMID:15657578   PMID:15677445   PMID:15716612   PMID:15741265   PMID:15753666   PMID:15759212  
PMID:15785245   PMID:15829955   PMID:15834508   PMID:15841388   PMID:15844786   PMID:15933516   PMID:15940252   PMID:15953945   PMID:15956201   PMID:15988377   PMID:15994200   PMID:16007166  
PMID:16053382   PMID:16118333   PMID:16127999   PMID:16144862   PMID:16153436   PMID:16181547   PMID:16186106   PMID:16203990   PMID:16227613   PMID:16230779   PMID:16269442   PMID:16314641  
PMID:16344560   PMID:16357163   PMID:16384843   PMID:16385451   PMID:16388093   PMID:16419493   PMID:16441254   PMID:16448984   PMID:16452504   PMID:16469774   PMID:16483615   PMID:16484222  
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PMID:16986122   PMID:17009072   PMID:17047028   PMID:17049487   PMID:17065770   PMID:17102080   PMID:17108762   PMID:17138574   PMID:17185892   PMID:17209045   PMID:17227125   PMID:17270245  
PMID:17270543   PMID:17274802   PMID:17316110   PMID:17384213   PMID:17388787   PMID:17397038   PMID:17431108   PMID:17440194   PMID:17464312   PMID:17471236   PMID:17490619   PMID:17527003  
PMID:17554617   PMID:17573899   PMID:17576593   PMID:17599050   PMID:17605401   PMID:17610518   PMID:17623957   PMID:17639057   PMID:17639058   PMID:17664273   PMID:17727338   PMID:17786355  
PMID:17825269   PMID:17895320   PMID:17900235   PMID:17910947   PMID:17934909   PMID:17952863   PMID:17954023   PMID:17954268   PMID:18029348   PMID:18058472   PMID:18062802   PMID:18063059  
PMID:18073307   PMID:18090939   PMID:18189271   PMID:18222320   PMID:18226854   PMID:18248648   PMID:18248681   PMID:18252215   PMID:18258924   PMID:18273880   PMID:18282654   PMID:18284634  
PMID:18299477   PMID:18316595   PMID:18316596   PMID:18322301   PMID:18331611   PMID:18353552   PMID:18355321   PMID:18365214   PMID:18393128   PMID:18394855   PMID:18402529   PMID:18414682  
PMID:18436345   PMID:18438890   PMID:18483257   PMID:18502331   PMID:18505566   PMID:18515739   PMID:18519677   PMID:18551016   PMID:18612588   PMID:18631007   PMID:18661771   PMID:18676680  
PMID:18676765   PMID:18753381   PMID:18756447   PMID:18765511   PMID:18772120   PMID:18794325   PMID:18805915   PMID:18845535   PMID:18845906   PMID:18936155   PMID:18976163   PMID:19005720  
PMID:19010920   PMID:19029228   PMID:19053769   PMID:19057948   PMID:19107227   PMID:19138318   PMID:19145771   PMID:19147513   PMID:19147753   PMID:19170196   PMID:19177457   PMID:19183406  
PMID:19186126   PMID:19196962   PMID:19215943   PMID:19223516   PMID:19223551   PMID:19226610   PMID:19258401   PMID:19282698   PMID:19284088   PMID:19306327   PMID:19306335   PMID:19320641  
PMID:19336503   PMID:19343621   PMID:19351817   PMID:19366855   PMID:19399650   PMID:19401695   PMID:19411807   PMID:19444888   PMID:19472011   PMID:19475497   PMID:19487296   PMID:19487299  
PMID:19495791   PMID:19543246   PMID:19551609   PMID:19556619   PMID:19561646   PMID:19625176   PMID:19650860   PMID:19666486   PMID:19678735   PMID:19692168   PMID:19765726   PMID:19767128  
PMID:19823924   PMID:19825962   PMID:19826964   PMID:19834765   PMID:19841562   PMID:19853744   PMID:19897677   PMID:19900702   PMID:19903778   PMID:19906784   PMID:19958926   PMID:19959718  
PMID:20012784   PMID:20013610   PMID:20063095   PMID:20080836   PMID:20083156   PMID:20089534   PMID:20098747   PMID:20101222   PMID:20103606   PMID:20119574   PMID:20123584   PMID:20142552  
PMID:20152359   PMID:20182906   PMID:20201982   PMID:20205103   PMID:20208144   PMID:20210798   PMID:20237269   PMID:20301434   PMID:20301612   PMID:20301715   PMID:20347960   PMID:20361209  
PMID:20373984   PMID:20375987   PMID:20379614   PMID:20395301   PMID:20442138   PMID:20453000   PMID:20454948   PMID:20463576   PMID:20473317   PMID:20489179   PMID:20495744   PMID:20497437  
PMID:20521125   PMID:20526288   PMID:20531297   PMID:20532249   PMID:20538960   PMID:20554711   PMID:20565774   PMID:20598273   PMID:20627492   PMID:20634891   PMID:20700745   PMID:20702524  
PMID:20801952   PMID:20819778   PMID:20840674   PMID:20860430   PMID:20877310   PMID:20930041   PMID:20944145   PMID:20956458   PMID:20960036   PMID:20979234   PMID:21054478   PMID:21111805  
PMID:21112821   PMID:21173509   PMID:21283077   PMID:21309721   PMID:21311890   PMID:21349203   PMID:21357690   PMID:21396847   PMID:21422198   PMID:21422799   PMID:21454698   PMID:21479187  
PMID:21490379   PMID:21521337   PMID:21530422   PMID:21542403   PMID:21543427   PMID:21551259   PMID:21655256   PMID:21677782   PMID:21678021   PMID:21690267   PMID:21711375   PMID:21737465  
PMID:21741956   PMID:21750045   PMID:21810974   PMID:21834681   PMID:21857107   PMID:21858136   PMID:21867742   PMID:21873635   PMID:21947652   PMID:21986619   PMID:21994944   PMID:21995290  
PMID:22031517   PMID:22068382   PMID:22111543   PMID:22131258   PMID:22150560   PMID:22156466   PMID:22169991   PMID:22174939   PMID:22189301   PMID:22199277   PMID:22270996   PMID:22274720  
PMID:22325379   PMID:22326552   PMID:22327622   PMID:22327623   PMID:22327624   PMID:22345297   PMID:22377709   PMID:22395866   PMID:22404432   PMID:22429913   PMID:22524660   PMID:22524746  
PMID:22573489   PMID:22584707   PMID:22648184   PMID:22648435   PMID:22729463   PMID:22734615   PMID:22751117   PMID:22803838   PMID:22837065   PMID:22865907   PMID:22875993   PMID:22939624  
PMID:22961909   PMID:22971345   PMID:22974609   PMID:23011823   PMID:23059849   PMID:23067224   PMID:23084198   PMID:23114404   PMID:23150706   PMID:23180660   PMID:23264394   PMID:23329180  
PMID:23378251   PMID:23382219   PMID:23400839   PMID:23401445   PMID:23407919   PMID:23416954   PMID:23436219   PMID:23441071   PMID:23444222   PMID:23455356   PMID:23461807   PMID:23468374  
PMID:23481210   PMID:23563004   PMID:23578175   PMID:23617071   PMID:23650283   PMID:23663121   PMID:23744765   PMID:23756355   PMID:23780998   PMID:23788249   PMID:23806056   PMID:23828865  
PMID:23841470   PMID:23868506   PMID:23881409   PMID:23991695   PMID:24014739   PMID:24030942   PMID:24037524   PMID:24040417   PMID:24045439   PMID:24133367   PMID:24139947   PMID:24152999  
PMID:24184958   PMID:24285539   PMID:24331334   PMID:24346100   PMID:24347288   PMID:24357249   PMID:24361808   PMID:24375508   PMID:24466333   PMID:24504365   PMID:24510380   PMID:24518567  
PMID:24526731   PMID:24528961   PMID:24560924   PMID:24561444   PMID:24601688   PMID:24613280   PMID:24616415   PMID:24629636   PMID:24631532   PMID:24643705   PMID:24651702   PMID:24658140  
PMID:24699996   PMID:24716929   PMID:24777754   PMID:24778213   PMID:24798740   PMID:24845513   PMID:24868525   PMID:24928018   PMID:24942550   PMID:24957039   PMID:24977658   PMID:24983371  
PMID:25027091   PMID:25047660   PMID:25064355   PMID:25079320   PMID:25122427   PMID:25141489   PMID:25175022   PMID:25241761   PMID:25242331   PMID:25262119   PMID:25267720   PMID:25303898  
PMID:25310821   PMID:25330015   PMID:25356737   PMID:25402006   PMID:25416956   PMID:25425582   PMID:25437590   PMID:25440022   PMID:25475805   PMID:25501606   PMID:25515555   PMID:25624014  
PMID:25638620   PMID:25666438   PMID:25694125   PMID:25723109   PMID:25725622   PMID:25736215   PMID:25786906   PMID:25795775   PMID:25824727   PMID:25854853   PMID:25855381   PMID:25887804  
PMID:25905642   PMID:25910212   PMID:25921289   PMID:25975578   PMID:26033033   PMID:26076779   PMID:26078337   PMID:26164711   PMID:26191260   PMID:26191299   PMID:26247112   PMID:26254625  
PMID:26258321   PMID:26268359   PMID:26285607   PMID:26310016   PMID:26356818   PMID:26395553   PMID:26424208   PMID:26438242   PMID:26496610   PMID:26589732   PMID:26595521   PMID:26678667  
PMID:26732158   PMID:26758973   PMID:26762747   PMID:26787234   PMID:26823860   PMID:26829565   PMID:26853422   PMID:26868437   PMID:26933947   PMID:26945007   PMID:26973202   PMID:27034161  
PMID:27056998   PMID:27090738   PMID:27092013   PMID:27150058   PMID:27203398   PMID:27226544   PMID:27245001   PMID:27273837   PMID:27277749   PMID:27338539   PMID:27344057   PMID:27349013  
PMID:27351133   PMID:27396331   PMID:27402614   PMID:27503909   PMID:27533506   PMID:27535135   PMID:27543214   PMID:27602955   PMID:27620278   PMID:27635639   PMID:27673361   PMID:27683183  
PMID:27702942   PMID:27704398   PMID:27802347   PMID:27807060   PMID:27809725   PMID:27838608   PMID:27847096   PMID:27864876   PMID:27872141   PMID:27912827   PMID:28011461   PMID:28065597  
PMID:28069693   PMID:28092668   PMID:28099363   PMID:28137737   PMID:28166591   PMID:28181547   PMID:28181564   PMID:28186607   PMID:28213521   PMID:28256518   PMID:28319085   PMID:28323957  
PMID:28423517   PMID:28433712   PMID:28460442   PMID:28467503   PMID:28490466   PMID:28560674   PMID:28609830   PMID:28647780   PMID:28674121   PMID:28688347   PMID:28794017   PMID:28799054  
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PMID:29656518   PMID:29779869   PMID:29965875   PMID:30031151   PMID:30045065   PMID:30135308   PMID:30257958   PMID:30321177   PMID:30429449   PMID:30446652   PMID:30467698   PMID:30484597  
PMID:30502294   PMID:30515799   PMID:30621641   PMID:30884088   PMID:30898150   PMID:30903583   PMID:30927507   PMID:30968146   PMID:30970187   PMID:31015297   PMID:31118272   PMID:31162284  
PMID:31219820   PMID:31288802   PMID:31300450   PMID:31313802   PMID:31352037   PMID:31355911   PMID:31364476   PMID:31392261   PMID:31408923   PMID:31425920   PMID:31494787   PMID:31534554  
PMID:31535977   PMID:31558784   PMID:31590591   PMID:31623671   PMID:31644668   PMID:31645646   PMID:31768065   PMID:31769228   PMID:31917155   PMID:31983649   PMID:31988000   PMID:31994201  
PMID:32062451   PMID:32083304   PMID:32139661   PMID:32179705   PMID:32228166   PMID:32240776   PMID:32293499   PMID:32295619   PMID:32319659   PMID:32393512   PMID:32408902   PMID:32411094  
PMID:32461304   PMID:32532875   PMID:32587276   PMID:32589703   PMID:32661391   PMID:32767330   PMID:32803668   PMID:32808420   PMID:32884116   PMID:32962888   PMID:32989896   PMID:32993133  
PMID:33084974   PMID:33086236   PMID:33159498   PMID:33168793   PMID:33248323   PMID:33301751   PMID:33382428   PMID:33383911   PMID:33402119   PMID:33402557   PMID:33433679   PMID:33450337  
PMID:33615670   PMID:33722797   PMID:33754314   PMID:33795352   PMID:33827484   PMID:33938650   PMID:33961781   PMID:33991527   PMID:34006365   PMID:34045295   PMID:34207842   PMID:34267336  
PMID:34310819   PMID:34344199   PMID:34366324   PMID:34373541   PMID:34563653   PMID:34680178   PMID:34710947   PMID:34725737   PMID:34741450   PMID:34757920   PMID:34769224   PMID:34822305  
PMID:34864862   PMID:34905813   PMID:34925234   PMID:34981673   PMID:35031902   PMID:35044719   PMID:35063667   PMID:35091706   PMID:35177769   PMID:35384245   PMID:35404189   PMID:35616103  
PMID:35627249   PMID:35705526   PMID:35985422   PMID:36059009   PMID:36202311   PMID:36522435   PMID:36576611   PMID:36632846   PMID:36736316   PMID:36765275   PMID:36821595   PMID:36878499  
PMID:36918928   PMID:37061618   PMID:37188126   PMID:37466466   PMID:37595672   PMID:37659079   PMID:37713609   PMID:37870964   PMID:37921725   PMID:37995867   PMID:38027168   PMID:38061115  
PMID:38254638   PMID:38465999   PMID:38493096   PMID:38576288  


Genomics

Comparative Map Data
RET
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381043,077,069 - 43,130,351 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1043,077,064 - 43,130,351 (+)EnsemblGRCh38hg38GRCh38
GRCh371043,572,517 - 43,625,799 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361042,892,523 - 42,945,805 (+)NCBINCBI36Build 36hg18NCBI36
Build 341042,892,532 - 42,944,955NCBI
Celera1039,575,663 - 39,628,954 (+)NCBICelera
Cytogenetic Map10q11.21NCBI
HuRef1040,098,756 - 40,151,896 (+)NCBIHuRef
CHM1_11043,611,715 - 43,665,000 (+)NCBICHM1_1
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBIT2T-CHM13v2.0
Ret
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396118,128,709 - 118,174,705 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6118,128,706 - 118,174,679 (-)EnsemblGRCm39 Ensembl
GRCm386118,151,748 - 118,197,744 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6118,151,745 - 118,197,718 (-)EnsemblGRCm38mm10GRCm38
MGSCv376118,101,766 - 118,147,762 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366118,119,472 - 118,162,752 (-)NCBIMGSCv36mm8
Celera6119,974,414 - 120,020,450 (-)NCBICelera
Cytogenetic Map6F1NCBI
cM Map655.86NCBI
Ret
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84152,998,344 - 153,040,556 (-)NCBIGRCr8
mRatBN7.24151,325,969 - 151,368,176 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4151,326,431 - 151,368,176 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4157,589,266 - 157,631,480 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04153,373,235 - 153,415,450 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04151,996,254 - 152,038,470 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04150,202,170 - 150,249,196 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4150,202,058 - 150,244,372 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04216,130,142 - 216,177,139 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44154,448,179 - 154,491,103 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14154,693,019 - 154,735,944 (-)NCBI
Celera4140,198,457 - 140,240,663 (-)NCBICelera
Cytogenetic Map4q42NCBI
Ret
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555461,221,995 - 1,253,946 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555461,221,995 - 1,252,147 (+)NCBIChiLan1.0ChiLan1.0
RET
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2855,790,324 - 55,866,889 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11055,795,492 - 55,848,773 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01040,050,396 - 40,103,629 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11043,256,437 - 43,286,340 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1043,249,468 - 43,284,331 (+)Ensemblpanpan1.1panPan2
RET
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1283,946,132 - 3,995,505 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl283,947,232 - 3,994,210 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha284,180,472 - 4,211,554 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0284,124,929 - 4,176,146 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl284,126,037 - 4,174,867 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1283,922,935 - 3,954,018 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0283,965,997 - 3,997,076 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0284,100,288 - 4,131,400 (-)NCBIUU_Cfam_GSD_1.0
Ret
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721383,803,446 - 83,856,824 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366172,927,155 - 2,980,602 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366172,927,185 - 2,980,594 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RET
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1461,305,841 - 61,361,412 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11461,305,818 - 61,361,416 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21466,136,477 - 66,192,220 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RET
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1938,746,088 - 38,798,773 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl938,769,170 - 38,796,712 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605647,691,006 - 47,743,756 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ret
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624922382,399 - 413,281 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624922382,462 - 413,227 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RET
3302 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020975.6(RET):c.2790G>A (p.Thr930=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561012]|Hirschsprung disease, susceptibility to, 1 [RCV002491141]|Multiple endocrine neoplasia, type 2 [RCV000868350] Chr10:43122005 [GRCh38]
Chr10:43617453 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1216A>G (p.Ser406Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566445]|Multiple endocrine neoplasia, type 2 [RCV000686269]|Ovarian cancer [RCV003153736]|not provided [RCV002530239] Chr10:43109183 [GRCh38]
Chr10:43604631 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.3264A>G (p.Pro1088=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565266] Chr10:43128188 [GRCh38]
Chr10:43623636 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.31C>T (p.Leu11=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325102]|Hirschsprung disease, susceptibility to, 1 [RCV002491106]|Multiple endocrine neoplasia, type 2 [RCV000547016] Chr10:43077289 [GRCh38]
Chr10:43572737 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1441C>G (p.Leu481Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011599]|Multiple endocrine neoplasia, type 2 [RCV000524715]|Multiple endocrine neoplasia, type 2a [RCV000662529] Chr10:43111384 [GRCh38]
Chr10:43606832 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1102C>T (p.Arg368Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567474]|Hirschsprung disease, susceptibility to, 1 [RCV002476249]|Multiple endocrine neoplasia, type 2 [RCV000802145]|not provided [RCV003225093] Chr10:43109069 [GRCh38]
Chr10:43604517 [GRCh37]
Chr10:10q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.2598C>T (p.Ala866=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566849]|Multiple endocrine neoplasia, type 2 [RCV000654615] Chr10:43119736 [GRCh38]
Chr10:43615184 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2030G>A (p.Arg677Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420537]|Multiple endocrine neoplasia, type 2 [RCV000545044] Chr10:43114630 [GRCh38]
Chr10:43610078 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.2679C>T (p.Phe893=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570139]|Hirschsprung disease, susceptibility to, 1 [RCV002497195]|Multiple endocrine neoplasia, type 2 [RCV000544339]|not provided [RCV003419995] Chr10:43120152 [GRCh38]
Chr10:43615600 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2965A>G (p.Lys989Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000550763] Chr10:43124908 [GRCh38]
Chr10:43620356 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2005A>G (p.Ile669Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566339]|Hirschsprung disease, susceptibility to, 1 [RCV002491139]|Multiple endocrine neoplasia, type 2 [RCV001359410]|not provided [RCV003222050] Chr10:43114605 [GRCh38]
Chr10:43610053 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.1090A>G (p.Ile364Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456263]|Hirschsprung disease, susceptibility to, 1 [RCV003459262]|Multiple endocrine neoplasia, type 2 [RCV000552058] Chr10:43109057 [GRCh38]
Chr10:43604505 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2040C>A (p.Ala680=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563075] Chr10:43114640 [GRCh38]
Chr10:43610088 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3173A>T (p.Glu1058Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563648]|Multiple endocrine neoplasia, type 2 [RCV001237080] Chr10:43126708 [GRCh38]
Chr10:43622156 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.230G>A (p.Arg77His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015133]|Multiple endocrine neoplasia, type 2 [RCV000525207] Chr10:43100615 [GRCh38]
Chr10:43596063 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1539G>A (p.Ala513=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574751]|Multiple endocrine neoplasia, type 2 [RCV001087370]|Multiple endocrine neoplasia, type 2b [RCV003316731]|not provided [RCV000679719] Chr10:43112115 [GRCh38]
Chr10:43607563 [GRCh37]
Chr10:10q11.21
pathogenic|likely benign|uncertain significance
NM_020975.6(RET):c.1501C>T (p.Leu501Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564433]|Multiple endocrine neoplasia, type 2 [RCV001853799] Chr10:43111444 [GRCh38]
Chr10:43606892 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.299G>A (p.Ser100Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566561]|Multiple endocrine neoplasia, type 2 [RCV001858384] Chr10:43100684 [GRCh38]
Chr10:43596132 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.736C>A (p.His246Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568616]|Hirschsprung disease, susceptibility to, 1 [RCV002506384]|Hirschsprung disease, susceptibility to, 1 [RCV003459398]|Multiple endocrine neoplasia, type 2 [RCV001227818] Chr10:43105062 [GRCh38]
Chr10:43600510 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.891T>C (p.Arg297=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561748] Chr10:43106399 [GRCh38]
Chr10:43601847 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.931G>T (p.Val311Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564728]|Multiple endocrine neoplasia, type 2 [RCV000654566]|RET-related condition [RCV003403362] Chr10:43106439 [GRCh38]
Chr10:43601887 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1931T>G (p.Phe644Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561976] Chr10:43114531 [GRCh38]
Chr10:43609979 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2418C>T (p.Tyr806=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568889]|Hirschsprung disease, susceptibility to, 1 [RCV001104778]|Multiple endocrine neoplasia [RCV001102859]|Multiple endocrine neoplasia, type 2 [RCV000551962]|Pheochromocytoma [RCV001102860]|Renal hypodysplasia/aplasia 1 [RCV001104777]|not provided [RCV001815346]|not specified [RCV001821653] Chr10:43119556 [GRCh38]
Chr10:43615004 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.2079C>G (p.Arg693=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567163]|Multiple endocrine neoplasia, type 2 [RCV000654642]|RET-related condition [RCV003952920] Chr10:43114679 [GRCh38]
Chr10:43610127 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2375G>C (p.Gly792Ala) single nucleotide variant not provided [RCV000520306] Chr10:43118463 [GRCh38]
Chr10:43613911 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2382C>T (p.Cys794=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000532454] Chr10:43118470 [GRCh38]
Chr10:43613918 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.204G>T (p.Leu68=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014198]|Multiple endocrine neoplasia, type 2 [RCV001086318]|not provided [RCV000827330] Chr10:43100589 [GRCh38]
Chr10:43596037 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1191G>A (p.Val397=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341478]|Multiple endocrine neoplasia, type 2 [RCV000545739] Chr10:43109158 [GRCh38]
Chr10:43604606 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1084C>A (p.Leu362Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563252]|Multiple endocrine neoplasia, type 2 [RCV000531414]|not provided [RCV003441942]|not specified [RCV001821651] Chr10:43109051 [GRCh38]
Chr10:43604499 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1493C>T (p.Ala498Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569143]|Hirschsprung disease, susceptibility to, 1 [RCV002476248]|Multiple endocrine neoplasia, type 2 [RCV000696079]|Multiple endocrine neoplasia, type 2a [RCV003325206]|not provided [RCV002508232] Chr10:43111436 [GRCh38]
Chr10:43606884 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1896_1897delinsCG (p.Glu632_Leu633delinsAspVal) indel Multiple endocrine neoplasia, type 2a [RCV000144430] Chr10:43114496..43114497 [GRCh38]
Chr10:43609944..43609945 [GRCh37]
Chr10:10q11.21
not provided
NM_020975.6(RET):c.2215G>A (p.Val739Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001367670] Chr10:43116662 [GRCh38]
Chr10:43612110 [GRCh37]
Chr10:10q11.21
uncertain significance
RET, 1-BP DEL, G1120 deletion Hirschsprung disease, susceptibility to, 1 [RCV000014945] Chr10:10q11.2 risk factor
NM_020975.6(RET):c.1892_1903dup (p.Cys634_Arg635insHisGluLeuCys) duplication MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA [RCV000014955] Chr10:43114491..43114492 [GRCh38]
Chr10:43609939..43609940 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1586_1594dup (p.Cys531_Gly532insGluGluCys) duplication Familial medullary thyroid carcinoma [RCV000014968] Chr10:43112153..43112154 [GRCh38]
Chr10:43607601..43607602 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.*1969T>C single nucleotide variant Hirschsprung disease, protection against [RCV000014982]|Hirschsprung disease, susceptibility to, 1 [RCV000380866]|Multiple endocrine neoplasia [RCV000350648]|Multiple endocrine neoplasia, type 2a [RCV000662849]|Pheochromocytoma [RCV000328614]|Renal hypodysplasia/aplasia 1 [RCV000288793]|not provided [RCV001723569] Chr10:43130238 [GRCh38]
Chr10:43625686 [GRCh37]
Chr10:10q11.21
benign|likely benign|protective
NM_020975.6(RET):c.2190A>G (p.Leu730=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432386]|Multiple endocrine neoplasia, type 2 [RCV001493974] Chr10:43116637 [GRCh38]
Chr10:43612085 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.720G>A (p.Val240=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003159941]|Multiple endocrine neoplasia, type 2 [RCV000543880] Chr10:43105046 [GRCh38]
Chr10:43600494 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1574G>A (p.Arg525Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562267]|Multiple endocrine neoplasia, type 2 [RCV000554802] Chr10:43112150 [GRCh38]
Chr10:43607598 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1064-22A>G single nucleotide variant not specified [RCV003320310] Chr10:43109009 [GRCh38]
Chr10:43604457 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1161C>T (p.Gly387=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256397]|Multiple endocrine neoplasia, type 2 [RCV000545378] Chr10:43109128 [GRCh38]
Chr10:43604576 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2801+9G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000544591] Chr10:43122025 [GRCh38]
Chr10:43617473 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity
NM_020975.6(RET):c.897C>T (p.Phe299=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561041]|Hirschsprung disease, susceptibility to, 1 [RCV002483499]|Multiple endocrine neoplasia, type 2 [RCV000560288]|RET-related condition [RCV003945333] Chr10:43106405 [GRCh38]
Chr10:43601853 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1273G>A (p.Val425Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000527763] Chr10:43111216 [GRCh38]
Chr10:43606664 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2262G>A (p.Thr754=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570375]|Hirschsprung disease, susceptibility to, 1 [RCV002483497]|Multiple endocrine neoplasia, type 2 [RCV000556868]|not specified [RCV001821652] Chr10:43116709 [GRCh38]
Chr10:43612157 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2305C>T (p.Leu769=) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002476201]|Multiple endocrine neoplasia, type 2 [RCV000551339]|not provided [RCV003228955] Chr10:43118393 [GRCh38]
Chr10:43613841 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.997C>G (p.His333Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566892] Chr10:43106505 [GRCh38]
Chr10:43601953 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3153C>G (p.Ala1051=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562319]|Multiple endocrine neoplasia, type 2 [RCV001393110] Chr10:43126688 [GRCh38]
Chr10:43622136 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.676C>T (p.Arg226Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367962]|Multiple endocrine neoplasia, type 2 [RCV000544813] Chr10:43105002 [GRCh38]
Chr10:43600450 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2610C>T (p.Leu870=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565487]|Multiple endocrine neoplasia, type 2 [RCV000863794] Chr10:43120083 [GRCh38]
Chr10:43615531 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.988C>T (p.Arg330Trp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001368515]|not provided [RCV000520482] Chr10:43106496 [GRCh38]
Chr10:43601944 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1088C>T (p.Ser363Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431718]|Multiple endocrine neoplasia, type 2 [RCV000546462] Chr10:43109055 [GRCh38]
Chr10:43604503 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.487C>T (p.Arg163Trp) single nucleotide variant Appendicitis [RCV001523789]|Hereditary cancer-predisposing syndrome [RCV002327618]|Multiple endocrine neoplasia, type 2 [RCV002541758] Chr10:43102491 [GRCh38]
Chr10:43597939 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1871A>G (p.Asp624Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013414]|Multiple endocrine neoplasia, type 2 [RCV000527191] Chr10:43113667 [GRCh38]
Chr10:43609115 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1798C>T (p.Arg600Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013214]|Hirschsprung disease, susceptibility to, 1 [RCV001107244]|Hirschsprung disease, susceptibility to, 1 [RCV002491103]|Multiple endocrine neoplasia [RCV001107246]|Multiple endocrine neoplasia, type 2 [RCV000549713]|Pheochromocytoma [RCV001107245]|Renal hypodysplasia/aplasia 1 [RCV001107247] Chr10:43113594 [GRCh38]
Chr10:43609042 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1335T>C (p.Ser445=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567558]|Multiple endocrine neoplasia, type 2 [RCV003645862] Chr10:43111278 [GRCh38]
Chr10:43606726 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.18C>T (p.Ser6=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013606]|Multiple endocrine neoplasia, type 2 [RCV000547863]|not provided [RCV003237924] Chr10:43077276 [GRCh38]
Chr10:43572724 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.170G>A (p.Arg57Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561648]|Multiple endocrine neoplasia, type 2 [RCV000558252]|not provided [RCV000679722] Chr10:43100555 [GRCh38]
Chr10:43596003 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1649G>A (p.Gly550Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002395488]|Multiple endocrine neoplasia, type 2 [RCV000543567] Chr10:43112853 [GRCh38]
Chr10:43608301 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2422A>G (p.Lys808Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015469]|Multiple endocrine neoplasia, type 2 [RCV000530391] Chr10:43119560 [GRCh38]
Chr10:43615008 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1306A>G (p.Ile436Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384266]|Multiple endocrine neoplasia, type 2 [RCV000525768] Chr10:43111249 [GRCh38]
Chr10:43606697 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.3339dup (p.Ser1114Ter) duplication Hereditary cancer-predisposing syndrome [RCV000562354] Chr10:43128262..43128263 [GRCh38]
Chr10:43623710..43623711 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1814G>T (p.Gly605Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000527977] Chr10:43113610 [GRCh38]
Chr10:43609058 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.74-5C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001442138] Chr10:43100454 [GRCh38]
Chr10:43595902 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2482G>C (p.Gly828Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015707]|Multiple endocrine neoplasia, type 2 [RCV000545284] Chr10:43119620 [GRCh38]
Chr10:43615068 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2448C>A (p.Leu816=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563299]|Multiple endocrine neoplasia, type 2 [RCV001499191] Chr10:43119586 [GRCh38]
Chr10:43615034 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.566G>A (p.Arg189His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350393]|Hirschsprung disease, susceptibility to, 1 [RCV001105731]|Multiple endocrine neoplasia [RCV001105728]|Multiple endocrine neoplasia, type 2 [RCV000526271]|Pheochromocytoma [RCV001105729]|Renal hypodysplasia/aplasia 1 [RCV001105730] Chr10:43102570 [GRCh38]
Chr10:43598018 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.2989G>C (p.Val997Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256398]|Multiple endocrine neoplasia, type 2 [RCV000524656] Chr10:43124932 [GRCh38]
Chr10:43620380 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.189G>T (p.Val63=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413649]|Multiple endocrine neoplasia, type 2 [RCV000542288] Chr10:43100574 [GRCh38]
Chr10:43596022 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2934G>A (p.Glu978=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438501]|Multiple endocrine neoplasia, type 2 [RCV001480375]|not provided [RCV000828002] Chr10:43123803 [GRCh38]
Chr10:43619251 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) single nucleotide variant Congenital central hypoventilation [RCV000762807]|Familial medullary thyroid carcinoma [RCV002470710]|Hereditary cancer-predisposing syndrome [RCV002408462]|Multiple endocrine neoplasia, type 2 [RCV000228834]|Multiple endocrine neoplasia, type 2a [RCV000014919]|not provided [RCV000522833] Chr10:43113648 [GRCh38]
Chr10:43609096 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic
NM_020975.6(RET):c.2293T>C (p.Ser765Pro) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000014921] Chr10:43118381 [GRCh38]
Chr10:43613829 [GRCh37]
Chr10:10q11.21
risk factor
NM_020975.6(RET):c.1900T>G (p.Cys634Gly) single nucleotide variant Familial medullary thyroid carcinoma [RCV001310209]|Hereditary cancer-predisposing syndrome [RCV001013616]|MEN2 phenotype: Unclassified [RCV001420921]|Multiple endocrine neoplasia, type 2 [RCV000654584]|Multiple endocrine neoplasia, type 2a [RCV000014922]|Pheochromocytoma [RCV000014923]|not provided [RCV000182581] Chr10:43114500 [GRCh38]
Chr10:43609948 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000129490]|Medullary thyroid carcinoma [RCV000438527]|Multiple endocrine neoplasia type 4 [RCV000432822]|Multiple endocrine neoplasia, type 1 [RCV000422622]|Multiple endocrine neoplasia, type 2 [RCV000476408]|Multiple endocrine neoplasia, type 2a [RCV000014924]|Multiple endocrine neoplasia, type 2b [RCV000425364]|Neoplasm [RCV000421191]|Pheochromocytoma [RCV000014925]|not provided [RCV000182582] Chr10:43114501 [GRCh38]
Chr10:43609949 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_020975.6(RET):c.1901G>C (p.Cys634Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000021824]|Multiple endocrine neoplasia, type 2a [RCV000014926]|Multiple endocrine neoplasia, type 2b [RCV001262460]|Pheochromocytoma [RCV000014927]|not provided [RCV002251730] Chr10:43114501 [GRCh38]
Chr10:43609949 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1901G>T (p.Cys634Phe) single nucleotide variant Familial medullary thyroid carcinoma [RCV000014929]|Hereditary cancer-predisposing syndrome [RCV002408463]|Multiple endocrine neoplasia, type 2 [RCV000471652]|Multiple endocrine neoplasia, type 2a [RCV000014928]|Pheochromocytoma [RCV000014930]|not provided [RCV003237413] Chr10:43114501 [GRCh38]
Chr10:43609949 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.406G>T (p.Glu136Ter) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000014931] Chr10:43102410 [GRCh38]
Chr10:43597858 [GRCh37]
Chr10:10q11.21
risk factor
NM_020975.6(RET):c.1833C>G (p.Cys611Trp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002513055]|Multiple endocrine neoplasia, type 2a [RCV000014932] Chr10:43113629 [GRCh38]
Chr10:43609077 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1853G>C (p.Cys618Ser) single nucleotide variant Familial medullary thyroid carcinoma [RCV000014934]|Hereditary cancer-predisposing syndrome [RCV001013348]|Multiple endocrine neoplasia, type 2 [RCV000161938]|Multiple endocrine neoplasia, type 2a [RCV000014933]|not provided [RCV000082050] Chr10:43113649 [GRCh38]
Chr10:43609097 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) single nucleotide variant Aganglionic megacolon [RCV000736276]|Hereditary cancer-predisposing syndrome [RCV000568259]|Hirschsprung disease, susceptibility to, 1 [RCV003324711]|Multiple endocrine neoplasia, type 2 [RCV000232285]|Multiple endocrine neoplasia, type 2 [RCV000826204]|Multiple endocrine neoplasia, type 2a [RCV000014935]|not provided [RCV000182580] Chr10:43113654 [GRCh38]
Chr10:43609102 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) single nucleotide variant Aganglionic megacolon [RCV000678747]|Hereditary cancer-predisposing syndrome [RCV002408464]|Medullary thyroid carcinoma [RCV000420281]|Multiple endocrine neoplasia type 4 [RCV000441133]|Multiple endocrine neoplasia, type 1 [RCV000428368]|Multiple endocrine neoplasia, type 2 [RCV000021801]|Multiple endocrine neoplasia, type 2a [RCV000014936]|Multiple endocrine neoplasia, type 2b [RCV000431330]|not provided [RCV000413879] Chr10:43113655 [GRCh38]
Chr10:43609103 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163338]|Hirschsprung disease, susceptibility to, 1 [RCV003460479]|Medullary thyroid carcinoma [RCV000420995]|Multiple endocrine neoplasia type 4 [RCV000420446]|Multiple endocrine neoplasia, type 1 [RCV000430685]|Multiple endocrine neoplasia, type 2 [RCV000552504]|Multiple endocrine neoplasia, type 2a [RCV000014937]|Multiple endocrine neoplasia, type 2b [RCV000431794]|Pheochromocytoma [RCV000014938]|Thyroid gland carcinoma [RCV000677899]|not provided [RCV000082051] Chr10:43114500 [GRCh38]
Chr10:43609948 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013621]|Medullary thyroid carcinoma [RCV000442512]|Multiple endocrine neoplasia type 4 [RCV000417418]|Multiple endocrine neoplasia, type 1 [RCV000444799]|Multiple endocrine neoplasia, type 2 [RCV000459040]|Multiple endocrine neoplasia, type 2a [RCV000014939]|Multiple endocrine neoplasia, type 2b [RCV000424817]|Pheochromocytoma [RCV000014940]|Thyroid tumor [RCV000432112]|not provided [RCV000405235] Chr10:43114502 [GRCh38]
Chr10:43609950 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_020975.6(RET):c.2753T>C (p.Met918Thr) single nucleotide variant Familial medullary thyroid carcinoma [RCV001292662]|Hereditary cancer-predisposing syndrome [RCV002255998]|Hirschsprung disease, susceptibility to, 1 [RCV001542764]|Hypertelorism [RCV000415312]|Inborn genetic diseases [RCV001266480]|Medullary thyroid carcinoma [RCV000417859]|Multiple endocrine neoplasia type 4 [RCV000444529]|Multiple endocrine neoplasia, type 1 [RCV000425499]|Multiple endocrine neoplasia, type 2 [RCV000161926]|Multiple endocrine neoplasia, type 2a [RCV000175096]|Multiple endocrine neoplasia, type 2b [RCV000014941]|Pheochromocytoma [RCV000014943]|RET-related condition [RCV003894803]|Thyroid carcinoma, sporadic medullary [RCV000014942]|Thyroid tumor [RCV000428538]|not provided [RCV000082054]|not specified [RCV000999916] Chr10:43121968 [GRCh38]
Chr10:43617416 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other
NM_020975.6(RET):c.2690G>A (p.Arg897Gln) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000014946] Chr10:43120163 [GRCh38]
Chr10:43615611 [GRCh37]
Chr10:10q11.21
risk factor
NM_020975.6(RET):c.2914A>G (p.Arg972Gly) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000014947] Chr10:43123783 [GRCh38]
Chr10:43619231 [GRCh37]
Chr10:10q11.21
risk factor
NM_020975.6(RET):c.95C>T (p.Ser32Leu) single nucleotide variant Aganglionic megacolon [RCV000678742]|Hirschsprung disease, susceptibility to, 1 [RCV000014948]|Multiple endocrine neoplasia, type 2 [RCV002514098] Chr10:43100480 [GRCh38]
Chr10:43595928 [GRCh37]
Chr10:10q11.21
likely pathogenic|risk factor
NM_020975.6(RET):c.191C>T (p.Pro64Leu) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000014949]|Multiple endocrine neoplasia, type 2 [RCV003531901] Chr10:43100576 [GRCh38]
Chr10:43596024 [GRCh37]
Chr10:10q11.21
risk factor|uncertain significance
NM_020975.6(RET):c.538C>T (p.Arg180Ter) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000014950]|Multiple endocrine neoplasia, type 2 [RCV001206325]|RET-related condition [RCV003398512] Chr10:43102542 [GRCh38]
Chr10:43597990 [GRCh37]
Chr10:10q11.21
pathogenic|risk factor
NM_020975.6(RET):c.989G>A (p.Arg330Gln) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000014951]|Multiple endocrine neoplasia, type 2 [RCV001379274] Chr10:43106497 [GRCh38]
Chr10:43601945 [GRCh37]
Chr10:10q11.21
likely pathogenic|risk factor
NM_020975.6(RET):c.1179C>A (p.Phe393Leu) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000014952] Chr10:43109146 [GRCh38]
Chr10:43604594 [GRCh37]
Chr10:10q11.21
risk factor
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255999]|Multiple endocrine neoplasia, type 2 [RCV000233944]|Multiple endocrine neoplasia, type 2a [RCV000014953]|Multiple endocrine neoplasia, type 2b [RCV000411165]|not provided [RCV000485714]|not specified [RCV001001382] Chr10:43113655 [GRCh38]
Chr10:43609103 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) single nucleotide variant Familial medullary thyroid carcinoma [RCV000014954]|Hereditary cancer-predisposing syndrome [RCV002256000]|Medullary thyroid carcinoma [RCV000442341]|Multiple endocrine neoplasia type 4 [RCV000444839]|Multiple endocrine neoplasia, type 1 [RCV000434685]|Multiple endocrine neoplasia, type 2 [RCV000021792]|Multiple endocrine neoplasia, type 2a [RCV000114391]|Multiple endocrine neoplasia, type 2b [RCV000427260]|not provided [RCV000345209] Chr10:43113648 [GRCh38]
Chr10:43609096 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) single nucleotide variant Familial medullary thyroid carcinoma [RCV000014956]|Hepatocellular carcinoma [RCV002280861]|Hereditary cancer-predisposing syndrome [RCV001015022]|Medullary thyroid carcinoma [RCV000421871]|Multiple endocrine neoplasia type 4 [RCV000439063]|Multiple endocrine neoplasia, type 1 [RCV000445341]|Multiple endocrine neoplasia, type 2 [RCV000021842]|Multiple endocrine neoplasia, type 2a [RCV000432579]|Multiple endocrine neoplasia, type 2b [RCV000426010]|Neoplasm [RCV000431893]|not provided [RCV001811141] Chr10:43118392 [GRCh38]
Chr10:43613840 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic
NM_020975.6(RET):c.938G>A (p.Arg313Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566081]|Hirschsprung disease, susceptibility to, 1 [RCV000014957]|Hirschsprung disease, susceptibility to, 1 [RCV002476968]|Multiple endocrine neoplasia, type 2 [RCV000654592]|Multiple endocrine neoplasia, type 2a [RCV000662693]|not provided [RCV003114192] Chr10:43106446 [GRCh38]
Chr10:43601894 [GRCh37]
Chr10:10q11.21
risk factor|uncertain significance
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) single nucleotide variant Familial medullary thyroid carcinoma [RCV000496009]|Familial medullary thyroid carcinoma [RCV000509116]|Hereditary cancer-predisposing syndrome [RCV000562113]|Hirschsprung disease, susceptibility to, 1 [RCV003460480]|MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE [RCV000014958]|Medullary thyroid carcinoma [RCV000431942]|Multiple endocrine neoplasia type 4 [RCV000444552]|Multiple endocrine neoplasia, type 1 [RCV000424503]|Multiple endocrine neoplasia, type 2 [RCV000168107]|Multiple endocrine neoplasia, type 2a [RCV000173889]|Multiple endocrine neoplasia, type 2b [RCV000441078]|RET-related condition [RCV003415703]|not provided [RCV000082049] Chr10:43113622 [GRCh38]
Chr10:43609070 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_020975.6(RET):c.1860C>G (p.Cys620Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566125]|MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE [RCV000014959]|Multiple endocrine neoplasia, type 2 [RCV000021789]|not provided [RCV002272020] Chr10:43113656 [GRCh38]
Chr10:43609104 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) single nucleotide variant Familial medullary thyroid carcinoma [RCV000014961]|Hereditary cancer-predisposing syndrome [RCV002453262]|Multiple endocrine neoplasia, type 2 [RCV000021849]|Multiple endocrine neoplasia, type 2a [RCV000014960]|not provided [RCV000182583] Chr10:43118458 [GRCh38]
Chr10:43613906 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) single nucleotide variant Aganglionic megacolon [RCV000148769]|Familial cancer of breast [RCV000754613]|Familial medullary thyroid carcinoma [RCV000014962]|Hereditary cancer-predisposing syndrome [RCV000130367]|Hirschsprung disease, susceptibility to, 1 [RCV000312825]|Medullary thyroid carcinoma [RCV000419149]|Multiple endocrine neoplasia [RCV000370653]|Multiple endocrine neoplasia type 4 [RCV000426589]|Multiple endocrine neoplasia, type 1 [RCV000441584]|Multiple endocrine neoplasia, type 2 [RCV001083710]|Multiple endocrine neoplasia, type 2a [RCV000436831]|Multiple endocrine neoplasia, type 2b [RCV000431156]|Pheochromocytoma [RCV000014963]|Renal hypodysplasia/aplasia 1 [RCV000400976]|not provided [RCV000034771]|not specified [RCV000235206] Chr10:43118460 [GRCh38]
Chr10:43613908 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_020975.6(RET):c.692G>A (p.Arg231His) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000014964] Chr10:43105018 [GRCh38]
Chr10:43600466 [GRCh37]
Chr10:10q11.21
risk factor
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) single nucleotide variant Aganglionic megacolon [RCV000736279]|Breast-ovarian cancer, familial, susceptibility to, 1 [RCV001822995]|Familial medullary thyroid carcinoma [RCV000238890]|Hereditary cancer-predisposing syndrome [RCV000162949]|Hirschsprung disease, susceptibility to, 1 [RCV000014965]|Malignant tumor of breast [RCV001269493]|Multiple endocrine neoplasia [RCV000202663]|Multiple endocrine neoplasia, type 2 [RCV001080524]|Multiple endocrine neoplasia, type 2a [RCV000411820]|Multiple endocrine neoplasia, type 2b [RCV000410308]|Pheochromocytoma [RCV000320112]|Renal hypodysplasia/aplasia 1 [RCV000354936]|not provided [RCV000034774]|not specified [RCV000082055] Chr10:43124887 [GRCh38]
Chr10:43620335 [GRCh37]
Chr10:10q11.21
risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.1941C>T (p.Ile647=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000220871]|Hirschsprung disease, susceptibility to, 1 [RCV000014966]|Multiple endocrine neoplasia, type 2 [RCV001085461]|Multiple endocrine neoplasia, type 2a [RCV000988344]|not provided [RCV000519499] Chr10:43114541 [GRCh38]
Chr10:43609989 [GRCh37]
Chr10:10q11.21
risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.135= (p.Ala45=) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000014967]|Multiple endocrine neoplasia, type 2 [RCV001083341]|not provided [RCV000712294]|not specified [RCV000216697] Chr10:43100520 [GRCh38]
Chr10:43595968 [GRCh37]
Chr10:10q11.21
risk factor|benign|not provided
NM_020975.6(RET):c.1919C>G (p.Ala640Gly) single nucleotide variant Multiple endocrine neoplasia, type 2a [RCV000014969] Chr10:43114519 [GRCh38]
Chr10:43609967 [GRCh37]
Chr10:10q11.21
pathogenic|uncertain significance
NM_020975.6(RET):c.1859G>C (p.Cys620Ser) single nucleotide variant Familial medullary thyroid carcinoma [RCV000014970]|Hereditary cancer-predisposing syndrome [RCV001013426]|Multiple endocrine neoplasia, type 2 [RCV000021802]|not provided [RCV000489707] Chr10:43113655 [GRCh38]
Chr10:43609103 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) single nucleotide variant Aganglionic megacolon [RCV000736274]|Familial medullary thyroid carcinoma [RCV000014971]|Hereditary cancer-predisposing syndrome [RCV001013275]|Multiple endocrine neoplasia, type 2 [RCV001851862]|not provided [RCV000414355] Chr10:43113621 [GRCh38]
Chr10:43609069 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic
NM_020975.6(RET):c.2410G>T (p.Val804Leu) single nucleotide variant Familial medullary thyroid carcinoma [RCV000014973]|Familial medullary thyroid carcinoma [RCV000487450]|Hereditary cancer-predisposing syndrome [RCV000561258]|Multiple endocrine neoplasia, type 2 [RCV000021854]|Multiple endocrine neoplasia, type 2a [RCV000596480]|not provided [RCV000354366] Chr10:43119548 [GRCh38]
Chr10:43614996 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.341G>A (p.Arg114His) single nucleotide variant Congenital central hypoventilation [RCV000014974]|Hereditary cancer-predisposing syndrome [RCV000163885]|Hirschsprung disease, susceptibility to, 1 [RCV000490359]|Multiple endocrine neoplasia [RCV001106779]|Multiple endocrine neoplasia, type 2 [RCV000198261]|Multiple endocrine neoplasia, type 2b [RCV000755684]|Pheochromocytoma [RCV001107412]|Renal hypodysplasia/aplasia 1 [RCV001106778]|not provided [RCV003389668]|not specified [RCV000121988] Chr10:43102345 [GRCh38]
Chr10:43597793 [GRCh37]
Chr10:10q11.21
pathogenic|benign|likely benign|uncertain significance|not provided
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) single nucleotide variant Aganglionic megacolon [RCV000148783]|Hereditary cancer-predisposing syndrome [RCV000563865]|Hirschsprung disease, susceptibility to, 1 [RCV000014975]|Hirschsprung disease, susceptibility to, 1 [RCV002490367]|Multiple endocrine neoplasia, type 2 [RCV000704911]|Multiple endocrine neoplasia, type 2a [RCV000411688]|Multiple endocrine neoplasia, type 2b [RCV000410425]|not specified [RCV003398513] Chr10:43126651 [GRCh38]
Chr10:43622099 [GRCh37]
Chr10:10q11.21
pathogenic|risk factor|likely benign|uncertain significance
NM_020975.6(RET):c.1942G>A (p.Val648Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163319]|Multiple endocrine neoplasia, type 2 [RCV001082776]|Multiple endocrine neoplasia, type 2a [RCV000014976]|not provided [RCV000034767]|not specified [RCV000442648] Chr10:43114542 [GRCh38]
Chr10:43609990 [GRCh37]
Chr10:10q11.21
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.1597G>T (p.Gly533Cys) single nucleotide variant Familial medullary thyroid carcinoma [RCV000014977]|Hereditary cancer-predisposing syndrome [RCV001012358]|Multiple endocrine neoplasia, type 2 [RCV000469127]|Multiple endocrine neoplasia, type 2a [RCV003335040]|not provided [RCV000182579] Chr10:43112173 [GRCh38]
Chr10:43607621 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) single nucleotide variant Familial medullary thyroid carcinoma [RCV000014979]|Hereditary cancer-predisposing syndrome [RCV001016276]|Hirschsprung disease, susceptibility to, 1 [RCV002490368]|MEN2 phenotype: Unclassified [RCV001804732]|Medullary thyroid carcinoma [RCV000445273]|Medullary thyroid carcinoma [RCV003387503]|Multiple endocrine neoplasia type 4 [RCV000431535]|Multiple endocrine neoplasia, type 1 [RCV000441854]|Multiple endocrine neoplasia, type 2 [RCV000227193]|Multiple endocrine neoplasia, type 2a [RCV000014978]|Multiple endocrine neoplasia, type 2b [RCV000425892]|not provided [RCV000394478] Chr10:43120144 [GRCh38]
Chr10:43615592 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_020975.6(RET):c.73+9277T>C single nucleotide variant Aganglionic megacolon [RCV000627056]|Hirschsprung disease, susceptibility to, 1 [RCV000014980]|Multiple endocrine neoplasia, type 2 [RCV001515285]|not specified [RCV000611595] Chr10:43086608 [GRCh38]
Chr10:43582056 [GRCh37]
Chr10:10q11.21
risk factor|benign
NM_020975.6(RET):c.2735G>C (p.Arg912Pro) single nucleotide variant Familial medullary thyroid carcinoma [RCV000014981]|Hereditary cancer-predisposing syndrome [RCV002433464]|Multiple endocrine neoplasia, type 2 [RCV000021883] Chr10:43121950 [GRCh38]
Chr10:43617398 [GRCh37]
Chr10:10q11.21
pathogenic|uncertain significance
NM_020975.6(RET):c.2332G>A (p.Val778Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562190]|Hirschsprung disease, susceptibility to, 1 [RCV001105833]|Multiple endocrine neoplasia [RCV001105834]|Multiple endocrine neoplasia, type 2 [RCV000206045]|Pheochromocytoma [RCV001108067]|Renal hypodysplasia/aplasia 1 [RCV000014983] Chr10:43118420 [GRCh38]
Chr10:43613868 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.592C>A (p.Pro198Thr) single nucleotide variant Renal hypodysplasia/aplasia 1 [RCV000014984] Chr10:43102596 [GRCh38]
Chr10:43598044 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020630.5(RET):c.-234_-230dup microsatellite Multiple endocrine neoplasia, type 2a [RCV000030400] Chr10:43077010..43077011 [GRCh38]
Chr10:43572458..43572459 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1264-55dup duplication Multiple endocrine neoplasia, type 2a [RCV000030401] Chr10:43111150..43111151 [GRCh38]
Chr10:43606598..43606599 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.166C>A (p.Leu56Met) single nucleotide variant Aganglionic megacolon [RCV000148768]|Hereditary cancer-predisposing syndrome [RCV000163266]|Hirschsprung disease, susceptibility to, 1 [RCV001108851]|Multiple endocrine neoplasia [RCV000202649]|Multiple endocrine neoplasia, type 2 [RCV001082759]|Multiple endocrine neoplasia, type 2a [RCV000030402]|Pheochromocytoma [RCV001108850]|Renal hypodysplasia/aplasia 1 [RCV001108849]|not provided [RCV000034766]|not specified [RCV000121985] Chr10:43100551 [GRCh38]
Chr10:43595999 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_020975.6(RET):c.1880-2A>G single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000030404] Chr10:43114478 [GRCh38]
Chr10:43609926 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.2080C>T (p.Arg694Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000708755]|Multiple endocrine neoplasia, type 2 [RCV000698016]|Multiple endocrine neoplasia, type 2a [RCV000030406]|RET-related condition [RCV003390703]|not specified [RCV000770758] Chr10:43114680 [GRCh38]
Chr10:43610128 [GRCh37]
Chr10:10q11.21
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.874G>A (p.Val292Met) single nucleotide variant Hereditary cancer [RCV003492298]|Hereditary cancer-predisposing syndrome [RCV000565970]|Hirschsprung disease, susceptibility to, 1 [RCV000333869]|Multiple endocrine neoplasia [RCV000367517]|Multiple endocrine neoplasia, type 2 [RCV001083006]|Multiple endocrine neoplasia, type 2b [RCV000755685]|Pheochromocytoma [RCV000276548]|Renal hypodysplasia/aplasia 1 [RCV000354891]|not provided [RCV000034779]|not specified [RCV000121992] Chr10:43106382 [GRCh38]
Chr10:43601830 [GRCh37]
Chr10:10q11.21
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_020975.6(RET):c.961G>A (p.Gly321Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567555]|Hirschsprung disease, susceptibility to, 1 [RCV003460487]|Medullary thyroid carcinoma [RCV000148776]|Multiple endocrine neoplasia, type 2 [RCV000231209]|Multiple endocrine neoplasia, type 2a [RCV000709104]|RET-related condition [RCV003389671]|not provided [RCV000679758]|not specified [RCV001818171] Chr10:43106469 [GRCh38]
Chr10:43601917 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.1529C>T (p.Ala510Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166168]|Multiple endocrine neoplasia, type 2 [RCV001083604]|Multiple endocrine neoplasia, type 2a [RCV000709114]|RET-related condition [RCV003891440]|not provided [RCV000679718] Chr10:43112105 [GRCh38]
Chr10:43607553 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561335]|Medullary thyroid carcinoma [RCV000148777]|Multiple endocrine neoplasia, type 2 [RCV000123299]|Multiple endocrine neoplasia, type 2a [RCV000411825]|Multiple endocrine neoplasia, type 2b [RCV000410289]|RET-related condition [RCV003398554]|not provided [RCV001310920]|not specified [RCV000454639] Chr10:43112107 [GRCh38]
Chr10:43607555 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.1544_1545delinsCT (p.Cys515Ser) indel Multiple endocrine neoplasia, type 2 [RCV000021765] Chr10:43112120..43112121 [GRCh38]
Chr10:43607568..43607569 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1591T>C (p.Cys531Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399332]|Multiple endocrine neoplasia, type 2 [RCV000021766] Chr10:43112167 [GRCh38]
Chr10:43607615 [GRCh37]
Chr10:10q11.21
pathogenic|uncertain significance
NM_020630.4(RET):c.1585_1593dupGAGGAGTGT (p.Cys531_Gly532insGluGluCys) duplication Familial medullary thyroid carcinoma [RCV000021767] Chr10:43112161..43112169 [GRCh38]
Chr10:43607609..43607617 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573056]|Hirschsprung disease, susceptibility to, 1 [RCV001102550]|Multiple endocrine neoplasia [RCV001107801]|Multiple endocrine neoplasia, type 2 [RCV000465806]|Multiple endocrine neoplasia, type 2a [RCV000411509]|Multiple endocrine neoplasia, type 2b [RCV000409959]|Pheochromocytoma [RCV001102551]|Renal hypodysplasia/aplasia 1 [RCV001107802] Chr10:43112173 [GRCh38]
Chr10:43607621 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1831T>A (p.Cys611Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412658]|Multiple endocrine neoplasia, type 2 [RCV003533237]|not provided [RCV003481306] Chr10:43113627 [GRCh38]
Chr10:43609075 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic
NM_020975.6(RET):c.1760-12G>A single nucleotide variant Hirschsprung Disease, Dominant [RCV000330417]|Multiple endocrine neoplasia [RCV000261911]|Multiple endocrine neoplasia, type 2 [RCV002054468]|Multiple endocrine neoplasia, type 2a [RCV000663117]|Pheochromocytoma [RCV000375196]|Renal hypodysplasia/aplasia 1 [RCV000315977]|not provided [RCV000679724] Chr10:43113544 [GRCh38]
Chr10:43608992 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1799G>A (p.Arg600Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013217]|Multiple endocrine neoplasia, type 2 [RCV000161927]|not provided [RCV000727229] Chr10:43113595 [GRCh38]
Chr10:43609043 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1807A>C (p.Lys603Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001906837] Chr10:43113603 [GRCh38]
Chr10:43609051 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1817A>G (p.Tyr606Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013292]|Multiple endocrine neoplasia, type 2 [RCV003531905] Chr10:43113613 [GRCh38]
Chr10:43609061 [GRCh37]
Chr10:10q11.21
likely pathogenic|uncertain significance
NM_020975.6(RET):c.1825T>A (p.Cys609Ser) single nucleotide variant not specified [RCV000021775] Chr10:43113621 [GRCh38]
Chr10:43609069 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1825T>G (p.Cys609Gly) single nucleotide variant Multiple endocrine neoplasia, type 2a [RCV000021777] Chr10:43113621 [GRCh38]
Chr10:43609069 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1826G>C (p.Cys609Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258320]|Multiple endocrine neoplasia, type 2 [RCV001908064]|Multiple endocrine neoplasia, type 2a [RCV003316853] Chr10:43113622 [GRCh38]
Chr10:43609070 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1826G>T (p.Cys609Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408486]|Multiple endocrine neoplasia, type 2 [RCV000533887]|not specified [RCV000506587] Chr10:43113622 [GRCh38]
Chr10:43609070 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic
NM_020975.6(RET):c.1827C>G (p.Cys609Trp) single nucleotide variant not provided [RCV003219010] Chr10:43113623 [GRCh38]
Chr10:43609071 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic|uncertain significance
NM_020975.6(RET):c.1831T>C (p.Cys611Arg) single nucleotide variant Aganglionic megacolon [RCV000736275]|Multiple endocrine neoplasia, type 2 [RCV000021782] Chr10:43113627 [GRCh38]
Chr10:43609075 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic
NM_020975.6(RET):c.1831T>G (p.Cys611Gly) single nucleotide variant not provided [RCV000506649] Chr10:43113627 [GRCh38]
Chr10:43609075 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1832G>A (p.Cys611Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565237]|Multiple endocrine neoplasia, type 2 [RCV000021784]|not provided [RCV000412987] Chr10:43113628 [GRCh38]
Chr10:43609076 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1832_1833delinsAT (p.Cys611Tyr) indel Multiple endocrine neoplasia, type 2 [RCV003062257] Chr10:43113628..43113629 [GRCh38]
Chr10:43609076..43609077 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020630.4(RET):c.1832G>C (p.Cys611Ser) single nucleotide variant MEN2 phenotype: Unknown [RCV000021786] Chr10:43113628 [GRCh38]
Chr10:43609076 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1832G>T (p.Cys611Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408472]|Multiple endocrine neoplasia, type 2 [RCV000021787]|Multiple endocrine neoplasia, type 2a [RCV003233027] Chr10:43113628 [GRCh38]
Chr10:43609076 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1840GAG[2] (p.Glu616del) microsatellite Hereditary cancer-predisposing syndrome [RCV000570920]|Multiple endocrine neoplasia, type 2 [RCV001247073]|not specified [RCV000021790] Chr10:43113636..43113638 [GRCh38]
Chr10:43609084..43609086 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163667]|Medullary thyroid carcinoma [RCV000423173]|Multiple endocrine neoplasia type 4 [RCV000434317]|Multiple endocrine neoplasia, type 1 [RCV000424049]|Multiple endocrine neoplasia, type 2 [RCV000475953]|Multiple endocrine neoplasia, type 2a [RCV000440162]|Multiple endocrine neoplasia, type 2b [RCV000429944]|not provided [RCV001565486] Chr10:43113649 [GRCh38]
Chr10:43609097 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic
NM_020975.6(RET):c.1853G>T (p.Cys618Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571381]|Multiple endocrine neoplasia, type 2 [RCV000548660]|not provided [RCV000255102] Chr10:43113649 [GRCh38]
Chr10:43609097 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1854C>G (p.Cys618Trp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000021796] Chr10:43113650 [GRCh38]
Chr10:43609098 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020630.4(RET):c.1857C>T (p.Phe619=) single nucleotide variant MEN2 phenotype: Unknown [RCV000021797] Chr10:43113653 [GRCh38]
Chr10:43609101 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1858T>A (p.Cys620Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408487]|Multiple endocrine neoplasia, type 2 [RCV000021798] Chr10:43113654 [GRCh38]
Chr10:43609102 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic
NM_020975.6(RET):c.1858T>G (p.Cys620Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575015]|Multiple endocrine neoplasia, type 2 [RCV000824755]|Multiple endocrine neoplasia, type 2 [RCV002513160]|Multiple endocrine neoplasia, type 2a [RCV000709757]|not provided [RCV001703419]|not specified [RCV000507202] Chr10:43113654 [GRCh38]
Chr10:43609102 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1867G>A (p.Glu623Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575097]|Multiple endocrine neoplasia, type 2 [RCV001369787]|Multiple endocrine neoplasia, type 2a [RCV000988343]|not provided [RCV001762053] Chr10:43113663 [GRCh38]
Chr10:43609111 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.1879+4A>G single nucleotide variant not specified [RCV000021805] Chr10:43113679 [GRCh38]
Chr10:43609127 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1888T>C (p.Cys630Arg) single nucleotide variant Medullary thyroid carcinoma [RCV000440788]|Multiple endocrine neoplasia type 4 [RCV000418588]|Multiple endocrine neoplasia, type 1 [RCV000429498]|Multiple endocrine neoplasia, type 2 [RCV000654593]|Multiple endocrine neoplasia, type 2a [RCV000436253]|Multiple endocrine neoplasia, type 2b [RCV000428845] Chr10:43114488 [GRCh38]
Chr10:43609936 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic
NM_020975.6(RET):c.1889G>A (p.Cys630Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408473]|Multiple endocrine neoplasia, type 2 [RCV000021807]|Multiple endocrine neoplasia, type 2a [RCV003315507] Chr10:43114489 [GRCh38]
Chr10:43609937 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1889G>C (p.Cys630Ser) single nucleotide variant not specified [RCV000021808] Chr10:43114489 [GRCh38]
Chr10:43609937 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1889G>T (p.Cys630Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000021809] Chr10:43114489 [GRCh38]
Chr10:43609937 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020630.4(RET):c.1891_1893delGAC (p.Asp631del) deletion Multiple endocrine neoplasia, type 2a [RCV000021810] Chr10:43114491..43114493 [GRCh38]
Chr10:43609939..43609941 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564566]|Hirschsprung disease, susceptibility to, 1 [RCV002477000]|Hirschsprung disease, susceptibility to, 1 [RCV003460488]|Multiple endocrine neoplasia, type 2 [RCV000696792]|not provided [RCV000519407]|not specified [RCV001818172] Chr10:43114491 [GRCh38]
Chr10:43609939 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1891G>T (p.Asp631Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000219970]|Multiple endocrine neoplasia, type 2 [RCV002513161] Chr10:43114491 [GRCh38]
Chr10:43609939 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020630.4(RET):c.1892A>C (p.Asp631Ala) single nucleotide variant MEN2 phenotype: Unknown [RCV000021813] Chr10:43114492 [GRCh38]
Chr10:43609940 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1892A>G (p.Asp631Gly) single nucleotide variant Medullary thyroid carcinoma [RCV000431229] Chr10:43114492 [GRCh38]
Chr10:43609940 [GRCh37]
Chr10:10q11.21
likely pathogenic|uncertain significance
NM_020975.6(RET):c.1892A>T (p.Asp631Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001362386] Chr10:43114492 [GRCh38]
Chr10:43609940 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1893C>A (p.Asp631Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406503]|Hirschsprung disease, susceptibility to, 1 [RCV003459564]|Multiple endocrine neoplasia, type 2 [RCV000693624]|not specified [RCV003987652] Chr10:43114493 [GRCh38]
Chr10:43609941 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1893C>T (p.Asp631=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567099]|Multiple endocrine neoplasia, type 2 [RCV000231749]|Multiple endocrine neoplasia, type 2a [RCV000663255]|not provided [RCV003415727]|not specified [RCV000431175] Chr10:43114493 [GRCh38]
Chr10:43609941 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.1894G>A (p.Glu632Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000708754]|Multiple endocrine neoplasia, type 2 [RCV000526155]|Multiple endocrine neoplasia, type 2a [RCV000411403]|Multiple endocrine neoplasia, type 2b [RCV000409907]|not provided [RCV001811195] Chr10:43114494 [GRCh38]
Chr10:43609942 [GRCh37]
Chr10:10q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.1896_1900delinsCGTGC (p.Glu632_Cys634delinsAspValArg) indel Multiple endocrine neoplasia, type 2 [RCV000021819] Chr10:43114496..43114500 [GRCh38]
Chr10:43609944..43609948 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1900T>A (p.Cys634Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408488]|Multiple endocrine neoplasia, type 2 [RCV000021820] Chr10:43114500 [GRCh38]
Chr10:43609948 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1901_1902delinsTG (p.Cys634Leu) indel Multiple endocrine neoplasia, type 2a [RCV000021826] Chr10:43114501..43114502 [GRCh38]
Chr10:43609949..43609950 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020630.4(RET):c.1903C>G (p.Arg635Gly) single nucleotide variant MEN2 phenotype: Unknown [RCV000021828] Chr10:43114503 [GRCh38]
Chr10:43609951 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020630.4(RET):c.1892_1903dupACGAGCTGTGCC (p.Cys634_Arg635insHisGluLeuCys) duplication Multiple endocrine neoplasia, type 2a [RCV000021829] Chr10:43114492..43114503 [GRCh38]
Chr10:43609940..43609951 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1906delinsGACCTGTGCCGCC (p.Thr636delinsAspLeuCysArgPro) indel Multiple endocrine neoplasia, type 2 [RCV000021830] Chr10:43114506 [GRCh38]
Chr10:43609954 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1900_1908dup (p.Cys634_Thr636dup) duplication Multiple endocrine neoplasia, type 2a [RCV000021831] Chr10:43114498..43114499 [GRCh38]
Chr10:43609946..43609947 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1921G>T (p.Ala641Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001349992]|RET-related condition [RCV003945694] Chr10:43114521 [GRCh38]
Chr10:43609969 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) single nucleotide variant Appendicitis [RCV001533539]|Elevated basal serum calcitonin [RCV000148770]|Hereditary cancer-predisposing syndrome [RCV000163375]|Hirschsprung disease, susceptibility to, 1 [RCV001104572]|Multiple endocrine neoplasia [RCV001104574]|Multiple endocrine neoplasia, type 2 [RCV001082257]|Multiple endocrine neoplasia, type 2a [RCV000663272]|Pheochromocytoma [RCV001104573]|Renal hypodysplasia/aplasia 1 [RCV001104575]|not provided [RCV000224141]|not specified [RCV000121978] Chr10:43114546 [GRCh38]
Chr10:43609994 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_020975.6(RET):c.1947G>A (p.Ser649=) single nucleotide variant Congenital central hypoventilation [RCV000762808]|Hereditary cancer-predisposing syndrome [RCV002408474]|Hirschsprung disease, susceptibility to, 1 [RCV001353180]|Multiple endocrine neoplasia, type 2 [RCV000821103]|not provided [RCV000498649] Chr10:43114547 [GRCh38]
Chr10:43609995 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic|uncertain significance
NM_020975.6(RET):c.1995C>G (p.His665Gln) single nucleotide variant not provided [RCV003236221] Chr10:43114595 [GRCh38]
Chr10:43610043 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567780]|Hirschsprung disease, susceptibility to, 1 [RCV002466411]|Hirschsprung disease, susceptibility to, 1 [RCV002496436]|Medullary thyroid carcinoma [RCV000148771]|Multiple endocrine neoplasia, type 2 [RCV000021838]|not provided [RCV001582493] Chr10:43114596 [GRCh38]
Chr10:43610044 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic|likely benign
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) single nucleotide variant Familial medullary thyroid carcinoma [RCV001027731]|Familial medullary thyroid carcinoma [RCV001818173]|Hereditary cancer-predisposing syndrome [RCV000570730]|Hirschsprung disease, susceptibility to, 1 [RCV001535750]|Hirschsprung disease, susceptibility to, 1 [RCV002477001]|Hirschsprung disease, susceptibility to, 1 [RCV003460489]|Multiple endocrine neoplasia, type 2 [RCV000467461]|Multiple endocrine neoplasia, type 2a [RCV000174156]|Pheochromocytoma [RCV003458339]|RET-related disorders [RCV003335051]|not provided [RCV000082052] Chr10:43114598 [GRCh38]
Chr10:43610046 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic|likely benign|uncertain significance|not provided
NM_020975.6(RET):c.1998delinsTTCT (p.Lys666delinsAsnSer) indel Multiple endocrine neoplasia, type 2 [RCV002572537] Chr10:43114598 [GRCh38]
Chr10:43610046 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000162947]|Hirschsprung disease, susceptibility to, 1 [RCV000340996]|Multiple endocrine neoplasia [RCV000385080]|Multiple endocrine neoplasia, type 2 [RCV001083339]|Multiple endocrine neoplasia, type 2a [RCV000660243]|Multiple endocrine neoplasia, type 2b [RCV003315508]|Pheochromocytoma [RCV000376859]|Renal hypodysplasia/aplasia 1 [RCV000290703]|not provided [RCV000034769]|not specified [RCV000039052] Chr10:43114671 [GRCh38]
Chr10:43610119 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.2307= (p.Leu769=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001082520]|not provided [RCV000712295]|not specified [RCV000154625] Chr10:43118395 [GRCh38]
Chr10:43613843 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2309G>A (p.Arg770Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001041258] Chr10:43118397 [GRCh38]
Chr10:43613845 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2330A>G (p.Asn777Ser) single nucleotide variant Appendicitis [RCV001289997]|Familial medullary thyroid carcinoma [RCV002225073]|Multiple endocrine neoplasia, type 2 [RCV001351342]|Multiple endocrine neoplasia, type 2a [RCV000709121] Chr10:43118418 [GRCh38]
Chr10:43613866 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2342A>G (p.Gln781Arg) single nucleotide variant Hereditary cancer [RCV003492299]|Hereditary cancer-predisposing syndrome [RCV002444437]|Multiple endocrine neoplasia, type 2 [RCV000232536]|not provided [RCV002477002]|not specified [RCV003321484] Chr10:43118430 [GRCh38]
Chr10:43613878 [GRCh37]
Chr10:10q11.21
pathogenic|benign|likely benign|uncertain significance
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) single nucleotide variant Congenital central hypoventilation [RCV000764900]|Hereditary cancer-predisposing syndrome [RCV000566113]|Hirschsprung disease, susceptibility to, 1 [RCV003466868]|Multiple endocrine neoplasia, type 2 [RCV000457504]|Multiple endocrine neoplasia, type 2a [RCV000409436]|Multiple endocrine neoplasia, type 2b [RCV000411890]|not specified [RCV001818174] Chr10:43118459 [GRCh38]
Chr10:43613907 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.2410G>A (p.Val804Met) single nucleotide variant Congenital central hypoventilation [RCV000515232]|Familial medullary thyroid carcinoma [RCV001804750]|Hereditary cancer-predisposing syndrome [RCV000210181]|Hirschsprung disease, susceptibility to, 1 [RCV003460494]|MEN2 phenotype: Unclassified [RCV000586783]|Multiple endocrine neoplasia, type 2 [RCV000148773]|Multiple endocrine neoplasia, type 2a [RCV000499191]|Ovarian cancer [RCV003153308]|RET-related condition [RCV003891450]|RET-related disease [RCV003458341]|not provided [RCV000182584] Chr10:43119548 [GRCh38]
Chr10:43614996 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_020975.6(RET):c.2410G>C (p.Val804Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453279]|MEN2 phenotype: Unclassified [RCV003226171]|Medullary thyroid carcinoma [RCV000436948]|Multiple endocrine neoplasia type 4 [RCV000437130]|Multiple endocrine neoplasia, type 1 [RCV000419916]|Multiple endocrine neoplasia, type 2 [RCV000021853]|Multiple endocrine neoplasia, type 2a [RCV000426266]|Multiple endocrine neoplasia, type 2b [RCV000425568]|not provided [RCV000479688] Chr10:43119548 [GRCh38]
Chr10:43614996 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic
NM_020630.4(RET):c.2413G>A (p.Glu805Lys) single nucleotide variant MEN2 phenotype: Unknown [RCV000021855] Chr10:43119551 [GRCh38]
Chr10:43614999 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2417A>G (p.Tyr806Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000798052] Chr10:43119555 [GRCh38]
Chr10:43615003 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.2452G>A (p.Glu818Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571277]|Hirschsprung disease, susceptibility to, 1 [RCV002490401]|Hirschsprung disease, susceptibility to, 1 [RCV003460490]|Medullary thyroid carcinoma [RCV000148782]|Multiple endocrine neoplasia, type 2 [RCV000799360]|Multiple endocrine neoplasia, type 2a [RCV000411157]|Multiple endocrine neoplasia, type 2b [RCV000410539] Chr10:43119590 [GRCh38]
Chr10:43615038 [GRCh37]
Chr10:10q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_020630.4(RET):c.2456G>T (p.Ser819Ile) single nucleotide variant MEN2 phenotype: Unknown [RCV000021858] Chr10:43119594 [GRCh38]
Chr10:43615042 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2497C>T (p.Arg833Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567481]|Multiple endocrine neoplasia, type 2 [RCV000529442]|Multiple endocrine neoplasia, type 2a [RCV000662806]|not provided [RCV000478761] Chr10:43119635 [GRCh38]
Chr10:43615083 [GRCh37]
Chr10:10q11.21
likely pathogenic|likely benign|uncertain significance
NM_020975.6(RET):c.2508C>T (p.Ser836=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015789]|Hirschsprung disease, susceptibility to, 1 [RCV000264509]|Multiple endocrine neoplasia [RCV000203081]|Multiple endocrine neoplasia, type 2 [RCV001080523]|Multiple endocrine neoplasia, type 2b [RCV003315509]|Pheochromocytoma [RCV000327711]|Renal hypodysplasia/aplasia 1 [RCV000359214]|not provided [RCV000712296]|not specified [RCV000151741] Chr10:43119646 [GRCh38]
Chr10:43615094 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) single nucleotide variant Aganglionic megacolon [RCV000148778]|Hereditary cancer-predisposing syndrome [RCV000575365]|Hirschsprung disease, susceptibility to, 1 [RCV001535741]|Hirschsprung disease, susceptibility to, 1 [RCV002477003]|Multiple endocrine neoplasia, type 2 [RCV000691895]|Multiple endocrine neoplasia, type 2a [RCV000662511]|not provided [RCV000782197]|not specified [RCV001818175] Chr10:43119660 [GRCh38]
Chr10:43615108 [GRCh37]
Chr10:10q11.21
benign|uncertain significance|not provided
NM_020975.6(RET):c.2523G>A (p.Pro841=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561411]|Multiple endocrine neoplasia, type 2 [RCV000197424]|Multiple endocrine neoplasia, type 2a [RCV000663049]|RET-related condition [RCV003952370]|not provided [RCV002225268] Chr10:43119661 [GRCh38]
Chr10:43615109 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020630.4(RET):c.2529G>T (p.Glu843Asp) single nucleotide variant MEN2 phenotype: Unknown [RCV000021863] Chr10:43119667 [GRCh38]
Chr10:43615115 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2530C>T (p.Arg844Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015858]|Hirschsprung disease, susceptibility to, 1 [RCV002482896]|Hirschsprung disease, susceptibility to, 1 [RCV003460491]|Multiple endocrine neoplasia, type 2 [RCV000456854]|Multiple endocrine neoplasia, type 2a [RCV000662786]|not provided [RCV001588822] Chr10:43119668 [GRCh38]
Chr10:43615116 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2531G>A (p.Arg844Gln) single nucleotide variant Familial medullary thyroid carcinoma [RCV001292765]|Hereditary cancer-predisposing syndrome [RCV000575953]|Hirschsprung disease, susceptibility to, 1 [RCV003466869]|Multiple endocrine neoplasia, type 2 [RCV000205855]|Multiple endocrine neoplasia, type 2a [RCV000662363]|not provided [RCV001574570] Chr10:43119669 [GRCh38]
Chr10:43615117 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.2531G>T (p.Arg844Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002426514]|Multiple endocrine neoplasia, type 2 [RCV000460812]|Multiple endocrine neoplasia, type 2a [RCV000410406]|Multiple endocrine neoplasia, type 2b [RCV000409297] Chr10:43119669 [GRCh38]
Chr10:43615117 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2535C>T (p.Ala845=) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002496437]|Multiple endocrine neoplasia, type 2 [RCV001490472] Chr10:43119673 [GRCh38]
Chr10:43615121 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2543T>C (p.Met848Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534270] Chr10:43119681 [GRCh38]
Chr10:43615129 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2556C>G (p.Ile852Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566408]|Hirschsprung disease, susceptibility to, 1 [RCV003466870]|Multiple endocrine neoplasia, type 2 [RCV000204335]|Multiple endocrine neoplasia, type 2a [RCV000662415]|Multiple endocrine neoplasia, type 2b [RCV000755693]|RET-related condition [RCV003924853]|not provided [RCV001354419]|not specified [RCV001818176] Chr10:43119694 [GRCh38]
Chr10:43615142 [GRCh37]
Chr10:10q11.21
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.2608-24G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001510395]|Multiple endocrine neoplasia, type 2b [RCV003315510]|not provided [RCV001711084]|not specified [RCV000082053] Chr10:43120057 [GRCh38]
Chr10:43615505 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2641C>G (p.Leu881Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569942]|Multiple endocrine neoplasia, type 2 [RCV000466832]|Multiple endocrine neoplasia, type 2a [RCV000410921]|Multiple endocrine neoplasia, type 2b [RCV000410267]|not provided [RCV001753425] Chr10:43120114 [GRCh38]
Chr10:43615562 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2647G>A (p.Ala883Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002426515]|Multiple endocrine neoplasia, type 2 [RCV000664393] Chr10:43120120 [GRCh38]
Chr10:43615568 [GRCh37]
Chr10:10q11.21
pathogenic|uncertain significance
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) indel Hereditary cancer-predisposing syndrome [RCV003298037]|Medullary thyroid carcinoma [RCV000422001]|Multiple endocrine neoplasia type 4 [RCV000445104]|Multiple endocrine neoplasia, type 1 [RCV000426500]|Multiple endocrine neoplasia, type 2 [RCV002514127]|Multiple endocrine neoplasia, type 2a [RCV000433892]|Multiple endocrine neoplasia, type 2b [RCV000021873] Chr10:43120120..43120121 [GRCh38]
Chr10:43615568..43615569 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_020975.6(RET):c.2656C>T (p.Arg886Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453266]|Medullary thyroid carcinoma [RCV000148785]|Multiple endocrine neoplasia, type 2 [RCV000654561]|Renal hypoplasia/aplasia [RCV001281276]|not provided [RCV000679734] Chr10:43120129 [GRCh38]
Chr10:43615577 [GRCh37]
Chr10:10q11.21
likely pathogenic|uncertain significance
NM_020975.6(RET):c.2673G>A (p.Ser891=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563464]|Hirschsprung disease, susceptibility to, 1 [RCV002496438]|Multiple endocrine neoplasia, type 2 [RCV001080085]|not provided [RCV000679735]|not specified [RCV000614058] Chr10:43120146 [GRCh38]
Chr10:43615594 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2711C>G (p.Ser904Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001851991]|not specified [RCV002468975] Chr10:43120184 [GRCh38]
Chr10:43615632 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2711C>T (p.Ser904Phe) single nucleotide variant Multiple endocrine neoplasia, type 2a [RCV001267835]|not provided [RCV000757722] Chr10:43120184 [GRCh38]
Chr10:43615632 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic
NM_020975.6(RET):c.2712C>G (p.Ser904=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000162948]|Hirschsprung disease, susceptibility to, 1 [RCV000296421]|Multiple endocrine neoplasia [RCV000349734]|Multiple endocrine neoplasia, type 2 [RCV001083340]|Multiple endocrine neoplasia, type 2a [RCV002466412]|Multiple endocrine neoplasia, type 2b [RCV003315511]|Pheochromocytoma [RCV000398445]|Renal hypodysplasia/aplasia 1 [RCV000280812]|not provided [RCV000712297]|not specified [RCV000039053] Chr10:43120185 [GRCh38]
Chr10:43615633 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.2719A>G (p.Lys907Glu) single nucleotide variant not specified [RCV000021880] Chr10:43120192 [GRCh38]
Chr10:43615640 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2720A>T (p.Lys907Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001906841] Chr10:43120193 [GRCh38]
Chr10:43615641 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2735G>A (p.Arg912Gln) single nucleotide variant not specified [RCV000021882] Chr10:43121950 [GRCh38]
Chr10:43617398 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2765C>A (p.Ser922Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433465]|Multiple endocrine neoplasia, type 2 [RCV003764617]|Multiple endocrine neoplasia, type 2a [RCV000988348] Chr10:43121980 [GRCh38]
Chr10:43617428 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.1013C>T (p.Thr338Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570795]|Multiple endocrine neoplasia, type 2 [RCV001046577]|Multiple endocrine neoplasia, type 2a [RCV000709106]|Multiple endocrine neoplasia, type 2b [RCV001262456] Chr10:43106521 [GRCh38]
Chr10:43601969 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1832_1833delinsCT (p.Cys611Ser) indel Multiple endocrine neoplasia, type 2 [RCV000032028] Chr10:43113628..43113629 [GRCh38]
Chr10:43609076..43609077 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1832_1833delinsTT (p.Cys611Phe) indel Multiple endocrine neoplasia, type 2 [RCV000032029] Chr10:43113628..43113629 [GRCh38]
Chr10:43609076..43609077 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1997A>T (p.Lys666Met) single nucleotide variant not specified [RCV000032034] Chr10:43114597 [GRCh38]
Chr10:43610045 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2098A>T (p.Met700Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002811717] Chr10:43114698 [GRCh38]
Chr10:43610146 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2304G>T (p.Glu768Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002426530]|MEN2 phenotype: Unclassified [RCV002307370]|Multiple endocrine neoplasia, type 2 [RCV000032037]|Multiple endocrine neoplasia, type 2a [RCV000411546]|Multiple endocrine neoplasia, type 2b [RCV000410061] Chr10:43118392 [GRCh38]
Chr10:43613840 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) single nucleotide variant Familial medullary thyroid carcinoma [RCV000984325]|Hereditary cancer-predisposing syndrome [RCV000163610]|Hirschsprung disease, susceptibility to, 1 [RCV003466882]|Hirschsprung disease, susceptibility to, 1 [RCV003483444]|Multiple endocrine neoplasia, type 2 [RCV000539138]|Multiple endocrine neoplasia, type 2a [RCV000709758]|not provided [RCV000339507] Chr10:43118458 [GRCh38]
Chr10:43613906 [GRCh37]
Chr10:10q11.21
pathogenic|conflicting interpretations of pathogenicity|not provided
NM_020975.6(RET):c.2752A>G (p.Met918Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433481]|Multiple endocrine neoplasia, type 2 [RCV000032039]|Multiple endocrine neoplasia, type 2a [RCV003315527]|not provided [RCV003318546] Chr10:43121967 [GRCh38]
Chr10:43617415 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.1852T>A (p.Cys618Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569893]|Multiple endocrine neoplasia, type 2 [RCV000032040]|Multiple endocrine neoplasia, type 2a [RCV003233028]|RET-related condition [RCV003914885]|not provided [RCV000182594] Chr10:43113648 [GRCh38]
Chr10:43609096 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020630.4:c.*750+d611T>C single nucleotide variant not provided [RCV000034765] Chr10:10q11.21 uncertain significance
NM_020975.6(RET):c.200G>A (p.Arg67His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563975]|Hirschsprung disease, susceptibility to, 1 [RCV000271726]|Multiple endocrine neoplasia [RCV000311573]|Multiple endocrine neoplasia, type 2 [RCV001080638]|Multiple endocrine neoplasia, type 2a [RCV002307371]|Pheochromocytoma [RCV000393823]|Renal hypodysplasia/aplasia 1 [RCV000368621]|not provided [RCV000034768]|not specified [RCV000121986] Chr10:43100585 [GRCh38]
Chr10:43596033 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_020975.6(RET):c.2288A>T (p.Asn763Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564342]|Multiple endocrine neoplasia, type 2 [RCV001064605]|not provided [RCV000034770] Chr10:43118376 [GRCh38]
Chr10:43613824 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2543T>A (p.Met848Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015867]|Multiple endocrine neoplasia, type 2 [RCV000698313]|Multiple endocrine neoplasia, type 2a [RCV000663125]|not provided [RCV000034772] Chr10:43119681 [GRCh38]
Chr10:43615129 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2611G>A (p.Val871Ile) single nucleotide variant Congenital central hypoventilation [RCV000763649]|Hereditary cancer-predisposing syndrome [RCV000562304]|Hirschsprung disease, susceptibility to, 1 [RCV002477060]|Multiple endocrine neoplasia, type 2 [RCV000123312]|Multiple endocrine neoplasia, type 2a [RCV000410572]|Multiple endocrine neoplasia, type 2b [RCV000409480]|not provided [RCV000034773]|not specified [RCV003387739] Chr10:43120084 [GRCh38]
Chr10:43615532 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568654]|Hirschsprung disease, susceptibility to, 1 [RCV001104860]|Hirschsprung disease, susceptibility to, 1 [RCV002477061]|Multiple endocrine neoplasia [RCV001104857]|Multiple endocrine neoplasia, type 2 [RCV000458385]|Multiple endocrine neoplasia, type 2a [RCV000409131]|Multiple endocrine neoplasia, type 2b [RCV000411986]|Pheochromocytoma [RCV001104859]|Renal hypodysplasia/aplasia 1 [RCV001104858]|not provided [RCV000034775] Chr10:43124925 [GRCh38]
Chr10:43620373 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.509C>T (p.Thr170Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023532]|Multiple endocrine neoplasia, type 2 [RCV000701145]|Multiple endocrine neoplasia, type 2a [RCV000411681]|Multiple endocrine neoplasia, type 2b [RCV000410582]|not provided [RCV000034776] Chr10:43102513 [GRCh38]
Chr10:43597961 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.785T>C (p.Val262Ala) single nucleotide variant Aganglionic megacolon [RCV000148775]|Hereditary cancer-predisposing syndrome [RCV000573525]|Hirschsprung disease, susceptibility to, 1 [RCV001103896]|Malignant tumor of breast [RCV001269367]|Multiple endocrine neoplasia [RCV001104177]|Multiple endocrine neoplasia, type 2 [RCV000123327]|Multiple endocrine neoplasia, type 2a [RCV000663296]|Pheochromocytoma [RCV001103897]|RET-related condition [RCV003891475]|Renal hypodysplasia/aplasia 1 [RCV001103898]|not provided [RCV000034777]|not specified [RCV000223157] Chr10:43105111 [GRCh38]
Chr10:43600559 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.833C>A (p.Thr278Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163444]|Hirschsprung disease, susceptibility to, 1 [RCV000490442]|Multiple endocrine neoplasia [RCV001104180]|Multiple endocrine neoplasia, type 2 [RCV001083124]|Multiple endocrine neoplasia, type 2a [RCV000988341]|Pheochromocytoma [RCV001104178]|Renal hypodysplasia/aplasia 1 [RCV001104179]|not provided [RCV000034778]|not specified [RCV000121990] Chr10:43105159 [GRCh38]
Chr10:43600607 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|See cases [RCV000052506] Chr10:42335305..60284876 [GRCh38]
Chr10:42830753..62044634 [GRCh37]
Chr10:42150759..61714640 [NCBI36]
Chr10:10q11.21-21.2
pathogenic
NM_020975.6(RET):c.351C>T (p.Pro117=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020506]|Multiple endocrine neoplasia, type 2 [RCV000476083]|RET-related condition [RCV003974949] Chr10:43102355 [GRCh38]
Chr10:43597803 [GRCh37]
Chr10:42917809 [NCBI36]
Chr10:10q11.21
likely benign|not provided
NM_020975.6(RET):c.1296A>G (p.Ala432=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000131068]|Hirschsprung disease, susceptibility to, 1 [RCV000285939]|Multiple endocrine neoplasia [RCV000265973]|Multiple endocrine neoplasia, type 2 [RCV000548337]|Multiple endocrine neoplasia, type 2a [RCV001795149]|Multiple endocrine neoplasia, type 2b [RCV001795150]|Pheochromocytoma [RCV000321087]|Renal hypodysplasia/aplasia 1 [RCV000380264]|not provided [RCV001811384]|not specified [RCV000082048] Chr10:43111239 [GRCh38]
Chr10:43606687 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.337+9G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453407]|Hirschsprung disease, susceptibility to, 1 [RCV000294618]|Multiple endocrine neoplasia [RCV000282670]|Multiple endocrine neoplasia, type 2 [RCV000860141]|Multiple endocrine neoplasia, type 2a [RCV002466424]|Multiple endocrine neoplasia, type 2b [RCV003315607]|Pheochromocytoma [RCV000372689]|Renal hypodysplasia/aplasia 1 [RCV000334351]|not provided [RCV001610381]|not specified [RCV000082056] Chr10:43100731 [GRCh38]
Chr10:43596179 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.375C>A (p.Val125=) single nucleotide variant Aganglionic megacolon [RCV000736271]|Hereditary cancer-predisposing syndrome [RCV000163272]|Hirschsprung disease, susceptibility to, 1 [RCV000307088]|Multiple endocrine neoplasia [RCV000407158]|Multiple endocrine neoplasia, type 2 [RCV001082716]|Multiple endocrine neoplasia, type 2b [RCV003315608]|Pheochromocytoma [RCV000267055]|Renal hypodysplasia/aplasia 1 [RCV000364069]|not provided [RCV000712298]|not specified [RCV000082057] Chr10:43102379 [GRCh38]
Chr10:43597827 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.867+4del deletion Aganglionic megacolon [RCV000678745]|Hereditary cancer-predisposing syndrome [RCV000563030]|Multiple endocrine neoplasia, type 2 [RCV000550028]|not provided [RCV000082058] Chr10:43105197 [GRCh38]
Chr10:43600645 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1702G>A (p.Gly568Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564831]|Hirschsprung disease, susceptibility to, 1 [RCV002477302]|Multiple endocrine neoplasia, type 2 [RCV000119225]|Multiple endocrine neoplasia, type 2a [RCV000662493]|not provided [RCV000355156] Chr10:43112906 [GRCh38]
Chr10:43608354 [GRCh37]
Chr10:10q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.1095G>A (p.Ser365=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570175]|Multiple endocrine neoplasia, type 2 [RCV000123289]|Multiple endocrine neoplasia, type 2a [RCV000412429]|Multiple endocrine neoplasia, type 2b [RCV000410870] Chr10:43109062 [GRCh38]
Chr10:43604510 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1158G>A (p.Ala386=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000162962]|Hirschsprung disease, susceptibility to, 1 [RCV001104294]|Multiple endocrine neoplasia [RCV001104295]|Multiple endocrine neoplasia, type 2 [RCV001082022]|Multiple endocrine neoplasia, type 2a [RCV000988342]|Pheochromocytoma [RCV001104296]|Renal hypodysplasia/aplasia 1 [RCV001107047]|not provided [RCV000123291]|not specified [RCV000610981] Chr10:43109125 [GRCh38]
Chr10:43604573 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.1182C>T (p.Asn394=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565850]|Hirschsprung disease, susceptibility to, 1 [RCV002492443]|Multiple endocrine neoplasia, type 2 [RCV000123292]|Multiple endocrine neoplasia, type 2a [RCV000409399]|Multiple endocrine neoplasia, type 2b [RCV000411914] Chr10:43109149 [GRCh38]
Chr10:43604597 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1264-4C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163859]|Multiple endocrine neoplasia, type 2 [RCV000123293]|Multiple endocrine neoplasia, type 2a [RCV000409285]|Multiple endocrine neoplasia, type 2b [RCV000411309]|RET-related condition [RCV003905181]|not provided [RCV001725980] Chr10:43111203 [GRCh38]
Chr10:43606651 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.1344C>G (p.Asn448Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572664]|Hirschsprung disease, susceptibility to, 1 [RCV002483237]|Hirschsprung disease, susceptibility to, 1 [RCV003460874]|Multiple endocrine neoplasia, type 2 [RCV000123295]|Pilocytic astrocytoma [RCV000761174]|RET-related condition [RCV003925222]|not provided [RCV002466439] Chr10:43111287 [GRCh38]
Chr10:43606735 [GRCh37]
Chr10:10q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.1386G>A (p.Ser462=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011207]|Multiple endocrine neoplasia, type 2 [RCV000123296]|RET-related condition [RCV003935176]|not specified [RCV003317094] Chr10:43111329 [GRCh38]
Chr10:43606777 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1437C>T (p.Ala479=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011572]|Multiple endocrine neoplasia, type 2 [RCV001086920]|Multiple endocrine neoplasia, type 2a [RCV000410836]|Multiple endocrine neoplasia, type 2b [RCV000409774]|not provided [RCV000679714] Chr10:43111380 [GRCh38]
Chr10:43606828 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.1467C>A (p.Asp489Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011534]|Multiple endocrine neoplasia, type 2 [RCV000123298]|Multiple endocrine neoplasia, type 2a [RCV000709113] Chr10:43111410 [GRCh38]
Chr10:43606858 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1642G>A (p.Gly548Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012544]|Hirschsprung disease, susceptibility to, 1 [RCV002483238]|Multiple endocrine neoplasia, type 2 [RCV000123300]|Multiple endocrine neoplasia, type 2a [RCV000662401]|RET-related condition [RCV003945111]|not provided [RCV001762280] Chr10:43112218 [GRCh38]
Chr10:43607666 [GRCh37]
Chr10:10q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) single nucleotide variant Familial medullary thyroid carcinoma [RCV002272134]|Hereditary cancer-predisposing syndrome [RCV000163453]|Hirschsprung disease, susceptibility to, 1 [RCV001104479]|Multiple endocrine neoplasia [RCV001104478]|Multiple endocrine neoplasia, type 2 [RCV001081705]|Multiple endocrine neoplasia, type 2a [RCV003153409]|Pheochromocytoma [RCV001107242]|RET-related condition [RCV003965038]|Renal hypodysplasia/aplasia 1 [RCV001107243]|not provided [RCV000727068]|not specified [RCV000455280] Chr10:43112903 [GRCh38]
Chr10:43608351 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.1724C>T (p.Thr575Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399493]|Multiple endocrine neoplasia, type 2 [RCV000123302]|Multiple endocrine neoplasia, type 2a [RCV000662668] Chr10:43112928 [GRCh38]
Chr10:43608376 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1920C>T (p.Ala640=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562785]|Hirschsprung disease, susceptibility to, 1 [RCV001104570]|Multiple endocrine neoplasia [RCV001102662]|Multiple endocrine neoplasia, type 2 [RCV000123303]|Pheochromocytoma [RCV001104571]|RET-related condition [RCV003935177]|Renal hypodysplasia/aplasia 1 [RCV001102661] Chr10:43114520 [GRCh38]
Chr10:43609968 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2001A>T (p.Pro667=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014049]|Multiple endocrine neoplasia, type 2 [RCV000123305] Chr10:43114601 [GRCh38]
Chr10:43610049 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.2037C>T (p.Pro679=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575514]|Hirschsprung disease, susceptibility to, 1 [RCV000302566]|Multiple endocrine neoplasia [RCV000346555]|Multiple endocrine neoplasia, type 2 [RCV000123306]|Multiple endocrine neoplasia, type 2b [RCV003315823]|Pheochromocytoma [RCV000398382]|RET-related condition [RCV003975094]|Renal hypodysplasia/aplasia 1 [RCV000291595]|not provided [RCV001811984]|not specified [RCV000433393] Chr10:43114637 [GRCh38]
Chr10:43610085 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.2166G>T (p.Lys722Asn) single nucleotide variant Hereditary cancer [RCV003492551]|Hereditary cancer-predisposing syndrome [RCV000562548]|Hirschsprung disease, susceptibility to, 1 [RCV002483239]|Hirschsprung disease, susceptibility to, 1 [RCV003467095]|Multiple endocrine neoplasia, type 2 [RCV000123307]|not provided [RCV003159099] Chr10:43116613 [GRCh38]
Chr10:43612061 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2199C>T (p.Gly733=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014747]|Multiple endocrine neoplasia, type 2 [RCV000123308] Chr10:43116646 [GRCh38]
Chr10:43612094 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2409C>T (p.Ile803=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567941]|Multiple endocrine neoplasia, type 2 [RCV000123310]|Multiple endocrine neoplasia, type 2a [RCV000409657]|Multiple endocrine neoplasia, type 2b [RCV000411631]|RET-related condition [RCV003894972] Chr10:43119547 [GRCh38]
Chr10:43614995 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.2449C>T (p.Arg817Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015577]|Hirschsprung disease, susceptibility to, 1 [RCV002466440]|Multiple endocrine neoplasia, type 2 [RCV000123311]|Multiple endocrine neoplasia, type 2a [RCV000409506]|Multiple endocrine neoplasia, type 2b [RCV000411874]|not provided [RCV000414497] Chr10:43119587 [GRCh38]
Chr10:43615035 [GRCh37]
Chr10:10q11.21
likely pathogenic|uncertain significance
NM_020975.6(RET):c.2692G>T (p.Asp898Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016327]|Multiple endocrine neoplasia, type 2 [RCV000123314] Chr10:43120165 [GRCh38]
Chr10:43615613 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2833G>A (p.Val945Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016725]|Multiple endocrine neoplasia, type 2 [RCV000123315]|Multiple endocrine neoplasia, type 2a [RCV000662596] Chr10:43123702 [GRCh38]
Chr10:43619150 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2997G>A (p.Ala999=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017866]|Multiple endocrine neoplasia, type 2 [RCV000123316] Chr10:43124940 [GRCh38]
Chr10:43620388 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) single nucleotide variant Ewing sarcoma of soft tissue [RCV000761007]|Hereditary cancer-predisposing syndrome [RCV000163463]|Hirschsprung disease, susceptibility to, 1 [RCV001108238]|Multiple endocrine neoplasia [RCV001108239]|Multiple endocrine neoplasia, type 2 [RCV001083486]|Multiple endocrine neoplasia, type 2a [RCV000663277]|Pheochromocytoma [RCV001106024]|RET-related condition [RCV003891652]|Renal hypodysplasia/aplasia 1 [RCV001106025]|not provided [RCV000679744]|not specified [RCV001818296] Chr10:43126647 [GRCh38]
Chr10:43622095 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.3188-9C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258804]|Hirschsprung disease, susceptibility to, 1 [RCV001108240]|Multiple endocrine neoplasia [RCV001108241]|Multiple endocrine neoplasia, type 2 [RCV000123318]|Multiple endocrine neoplasia, type 2a [RCV000412312]|Multiple endocrine neoplasia, type 2b [RCV000410823]|Pheochromocytoma [RCV001108242]|Renal hypodysplasia/aplasia 1 [RCV001108243]|not specified [RCV000597670] Chr10:43128103 [GRCh38]
Chr10:43623551 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.31C>G (p.Leu11Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019149]|Multiple endocrine neoplasia, type 2 [RCV000123319] Chr10:43077289 [GRCh38]
Chr10:43572737 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3243T>C (p.Asp1081=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570968]|Hirschsprung disease, susceptibility to, 1 [RCV001103047]|Multiple endocrine neoplasia [RCV001108245]|Multiple endocrine neoplasia, type 2 [RCV000123320]|Multiple endocrine neoplasia, type 2a [RCV000412402]|Multiple endocrine neoplasia, type 2b [RCV000410847]|Pheochromocytoma [RCV001108244]|Renal hypodysplasia/aplasia 1 [RCV001103048] Chr10:43128167 [GRCh38]
Chr10:43623615 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.3326T>C (p.Met1109Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573076]|Hirschsprung disease, susceptibility to, 1 [RCV003460875]|Multiple endocrine neoplasia, type 2 [RCV000123321]|not provided [RCV000679747] Chr10:43128250 [GRCh38]
Chr10:43623698 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.335G>A (p.Arg112His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563716]|Multiple endocrine neoplasia, type 2 [RCV000123322]|Multiple endocrine neoplasia, type 2a [RCV000409019]|Multiple endocrine neoplasia, type 2b [RCV000411433]|not provided [RCV001310569] Chr10:43100720 [GRCh38]
Chr10:43596168 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.597C>T (p.Asn199=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565107]|Hirschsprung disease, susceptibility to, 1 [RCV000383508]|Multiple endocrine neoplasia [RCV000349967]|Multiple endocrine neoplasia, type 2 [RCV000123323]|Pheochromocytoma [RCV000292445]|Renal hypodysplasia/aplasia 1 [RCV000291430]|not provided [RCV003415926]|not specified [RCV000611182] Chr10:43102601 [GRCh38]
Chr10:43598049 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.667G>A (p.Val223Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025526]|Multiple endocrine neoplasia, type 2 [RCV000123324]|Multiple endocrine neoplasia, type 2a [RCV000409553]|Multiple endocrine neoplasia, type 2b [RCV000411929]|See cases [RCV002251993] Chr10:43104993 [GRCh38]
Chr10:43600441 [GRCh37]
Chr10:10q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.693C>T (p.Arg231=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568383]|Hirschsprung Disease, Dominant [RCV000263104]|Multiple endocrine neoplasia [RCV000355396]|Multiple endocrine neoplasia, type 2 [RCV001081768]|Multiple endocrine neoplasia, type 2a [RCV000409807]|Multiple endocrine neoplasia, type 2b [RCV000412200]|Pheochromocytoma [RCV000391410]|Renal hypodysplasia/aplasia 1 [RCV000302880]|not provided [RCV000123325] Chr10:43105019 [GRCh38]
Chr10:43600467 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.757G>A (p.Val253Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026582]|Hirschsprung disease, susceptibility to, 1 [RCV003467096]|Multiple endocrine neoplasia, type 2 [RCV000123326] Chr10:43105083 [GRCh38]
Chr10:43600531 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.868-9A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000123328]|RET-related condition [RCV003935178] Chr10:43106367 [GRCh38]
Chr10:43601815 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2261C>T (p.Thr754Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573705]|Hirschsprung disease, susceptibility to, 1 [RCV002492438]|Hirschsprung disease, susceptibility to, 1 [RCV003460858]|Multiple endocrine neoplasia [RCV000202914]|Multiple endocrine neoplasia, type 2 [RCV000462996]|Multiple endocrine neoplasia, type 2a [RCV000411486]|Multiple endocrine neoplasia, type 2b [RCV000410377]|not provided [RCV003151746]|not specified [RCV000121979] Chr10:43116708 [GRCh38]
Chr10:43612156 [GRCh37]
Chr10:10q11.21
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_020975.6(RET):c.2348A>C (p.Asn783Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561957]|Hirschsprung disease, susceptibility to, 1 [RCV003460859]|Multiple endocrine neoplasia, type 2 [RCV000540063]|Multiple endocrine neoplasia, type 2a [RCV000410090]|Multiple endocrine neoplasia, type 2b [RCV000412123]|RET-related condition [RCV003390808]|not provided [RCV000724767]|not specified [RCV000121980] Chr10:43118436 [GRCh38]
Chr10:43613884 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_020975.6(RET):c.2432C>G (p.Ser811Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000221652]|Multiple endocrine neoplasia, type 2 [RCV000808281]|Multiple endocrine neoplasia, type 2a [RCV000709122]|not specified [RCV000121981] Chr10:43119570 [GRCh38]
Chr10:43615018 [GRCh37]
Chr10:10q11.21
uncertain significance|not provided
NM_020975.6(RET):c.2875C>T (p.Arg959Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433615]|Multiple endocrine neoplasia, type 2 [RCV000559400]|Multiple endocrine neoplasia, type 2a [RCV000410787]|Multiple endocrine neoplasia, type 2b [RCV000409726]|not specified [RCV000121982] Chr10:43123744 [GRCh38]
Chr10:43619192 [GRCh37]
Chr10:10q11.21
uncertain significance|not provided
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321601]|Hirschsprung disease, susceptibility to, 1 [RCV003460860]|Multiple endocrine neoplasia, type 2 [RCV000532140]|Multiple endocrine neoplasia, type 2a [RCV000409698]|Multiple endocrine neoplasia, type 2b [RCV000412388]|not provided [RCV001577914]|not specified [RCV000121983] Chr10:43126720 [GRCh38]
Chr10:43622168 [GRCh37]
Chr10:10q11.21
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_020975.6(RET):c.3116C>A (p.Pro1039Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321602]|Multiple endocrine neoplasia, type 2 [RCV000793359]|not specified [RCV000121984] Chr10:43126651 [GRCh38]
Chr10:43622099 [GRCh37]
Chr10:10q11.21
uncertain significance|not provided
NM_020975.6(RET):c.304G>A (p.Asp102Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567241]|Hirschsprung disease, susceptibility to, 1 [RCV002483229]|Multiple endocrine neoplasia, type 2 [RCV000554385]|RET-related condition [RCV003389700]|not specified [RCV000121987] Chr10:43100689 [GRCh38]
Chr10:43596137 [GRCh37]
Chr10:10q11.21
benign|uncertain significance|not provided
NM_020975.6(RET):c.488G>A (p.Arg163Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336267]|Hirschsprung disease, susceptibility to, 1 [RCV002483230]|Multiple endocrine neoplasia, type 2 [RCV000795345]|not specified [RCV000121989] Chr10:43102492 [GRCh38]
Chr10:43597940 [GRCh37]
Chr10:10q11.21
benign|uncertain significance|not provided
NM_020975.6(RET):c.1049C>T (p.Thr350Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002390274]|Multiple endocrine neoplasia, type 2 [RCV001038827]|not specified [RCV000121991] Chr10:43106557 [GRCh38]
Chr10:43602005 [GRCh37]
Chr10:10q11.21
uncertain significance|not provided
NM_020975.6(RET):c.1157C>T (p.Ala386Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163314]|Multiple endocrine neoplasia, type 2 [RCV001079718]|RET-related condition [RCV003945102]|not provided [RCV000726085]|not specified [RCV000121993] Chr10:43109124 [GRCh38]
Chr10:43604572 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000162955]|Hirschsprung disease, susceptibility to, 1 [RCV000317413]|Multiple endocrine neoplasia [RCV000337299]|Multiple endocrine neoplasia, type 2 [RCV001083435]|Multiple endocrine neoplasia, type 2a [RCV000409372]|Multiple endocrine neoplasia, type 2b [RCV000411174]|Pheochromocytoma [RCV000372019]|Renal hypodysplasia/aplasia 1 [RCV000282253]|not provided [RCV000712293]|not specified [RCV000121994] Chr10:43111279 [GRCh38]
Chr10:43606727 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_020975.6(RET):c.1424G>A (p.Arg475Gln) single nucleotide variant Aganglionic megacolon [RCV000148779]|Hereditary cancer-predisposing syndrome [RCV001011481]|Multiple endocrine neoplasia, type 2 [RCV000470554]|not specified [RCV000121995] Chr10:43111367 [GRCh38]
Chr10:43606815 [GRCh37]
Chr10:10q11.21
uncertain significance|not provided
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570658]|Hirschsprung disease, susceptibility to, 1 [RCV000758696]|Multiple endocrine neoplasia, type 2 [RCV000461515]|Multiple endocrine neoplasia, type 2a [RCV000410596]|Multiple endocrine neoplasia, type 2b [RCV000409013]|not provided [RCV001650985]|not specified [RCV000121996] Chr10:43111381 [GRCh38]
Chr10:43606829 [GRCh37]
Chr10:10q11.21
likely pathogenic|likely benign|uncertain significance|no classifications from unflagged records|not provided
NM_020975.6(RET):c.1465G>A (p.Asp489Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163289]|Hirschsprung disease, susceptibility to, 1 [RCV000307925]|Multiple endocrine neoplasia, type 2 [RCV000205420]|Multiple endocrine neoplasia, type 2b [RCV003315776]|not provided [RCV001689670]|not specified [RCV000121997] Chr10:43111408 [GRCh38]
Chr10:43606856 [GRCh37]
Chr10:10q11.21
benign|likely benign|not provided
NM_020975.6(RET):c.1573C>T (p.Arg525Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166496]|Hirschsprung disease, susceptibility to, 1 [RCV002492439]|Multiple endocrine neoplasia, type 2 [RCV000476004]|RET-related condition [RCV003415922]|not specified [RCV000121998] Chr10:43112149 [GRCh38]
Chr10:43607597 [GRCh37]
Chr10:10q11.21
uncertain significance|not provided
NM_020975.6(RET):c.1264-5C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000129654]|Hirschsprung disease, susceptibility to, 1 [RCV000329345]|Hirschsprung disease, susceptibility to, 1 [RCV002498544]|Multiple endocrine neoplasia [RCV000269631]|Multiple endocrine neoplasia, type 2 [RCV001083250]|Multiple endocrine neoplasia, type 2a [RCV000410578]|Multiple endocrine neoplasia, type 2b [RCV000409020]|Pheochromocytoma [RCV000365295]|Renal hypodysplasia/aplasia 1 [RCV000364568]|not provided [RCV000425429]|not specified [RCV000151740] Chr10:43111202 [GRCh38]
Chr10:43606650 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.2976G>A (p.Pro992=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000164076]|Hirschsprung disease, susceptibility to, 1 [RCV000330738]|Multiple endocrine neoplasia [RCV000294401]|Multiple endocrine neoplasia, type 2 [RCV000119173]|Multiple endocrine neoplasia, type 2b [RCV003315707]|Pheochromocytoma [RCV000387641]|Renal hypodysplasia/aplasia 1 [RCV000374727]|not specified [RCV000431966] Chr10:43124919 [GRCh38]
Chr10:43620367 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.3057G>A (p.Ala1019=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574003]|Multiple endocrine neoplasia, type 2 [RCV000119177]|Multiple endocrine neoplasia, type 2a [RCV000411953]|Multiple endocrine neoplasia, type 2b [RCV000410440]|RET-related condition [RCV003965001]|not specified [RCV000613685] Chr10:43126592 [GRCh38]
Chr10:43622040 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2477A>G (p.Tyr826Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001047293] Chr10:43119615 [GRCh38]
Chr10:43615063 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2979C>G (p.Asp993Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001302924] Chr10:43124922 [GRCh38]
Chr10:43620370 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2586_2592del (p.Met862fs) deletion not provided [RCV000174791] Chr10:43119722..43119728 [GRCh38]
Chr10:43615170..43615176 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) single nucleotide variant Aganglionic megacolon [RCV000148781]|Hereditary cancer-predisposing syndrome [RCV000562835]|Hirschsprung disease, susceptibility to, 1 [RCV001102744]|Multiple endocrine neoplasia [RCV001102746]|Multiple endocrine neoplasia, type 2 [RCV000462012]|Multiple endocrine neoplasia, type 2a [RCV000409290]|Multiple endocrine neoplasia, type 2b [RCV000411751]|Pheochromocytoma [RCV001102743]|RET-related condition [RCV003935258]|Renal hypodysplasia/aplasia 1 [RCV001102745]|not provided [RCV000766923]|not specified [RCV000455880] Chr10:43114681 [GRCh38]
Chr10:43610129 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) single nucleotide variant Aganglionic megacolon [RCV000148784]|Hereditary cancer-predisposing syndrome [RCV000569531]|Hirschsprung disease, susceptibility to, 1 [RCV002505137]|Hirschsprung disease, susceptibility to, 1 [RCV003462057]|Multiple endocrine neoplasia, type 2 [RCV000557293]|not provided [RCV003480062] Chr10:43128115 [GRCh38]
Chr10:43623563 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.539G>A (p.Arg180Gln) single nucleotide variant Aganglionic megacolon [RCV000148786]|Familial medullary thyroid carcinoma [RCV001294034]|Hereditary cancer-predisposing syndrome [RCV001024031]|Multiple endocrine neoplasia, type 2 [RCV000197537]|Multiple endocrine neoplasia, type 2a [RCV000410075]|Multiple endocrine neoplasia, type 2b [RCV000412078]|not provided [RCV003736605] Chr10:43102543 [GRCh38]
Chr10:43597991 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.483G>T (p.Lys161Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003104202] Chr10:43102487 [GRCh38]
Chr10:43597935 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3142C>G (p.Leu1048Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574881]|Multiple endocrine neoplasia, type 2 [RCV000474558]|Multiple endocrine neoplasia, type 2a [RCV000412050]|Multiple endocrine neoplasia, type 2b [RCV000410987]|not provided [RCV003235199] Chr10:43126677 [GRCh38]
Chr10:43622125 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2116G>A (p.Val706Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565078]|Multiple endocrine neoplasia, type 2 [RCV000795272]|Multiple endocrine neoplasia, type 2a [RCV000410654]|Multiple endocrine neoplasia, type 2b [RCV000409130] Chr10:43114716 [GRCh38]
Chr10:43610164 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429338]|Hirschsprung disease, susceptibility to, 1 [RCV002505998]|Multiple endocrine neoplasia, type 2 [RCV000704852]|Multiple endocrine neoplasia, type 2a [RCV000410477]|Multiple endocrine neoplasia, type 2b [RCV000409178]|RET-related condition [RCV003409569] Chr10:43119626 [GRCh38]
Chr10:43615074 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.1263+9A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001313178] Chr10:43109239 [GRCh38]
Chr10:43604687 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1760-3C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000129928]|Multiple endocrine neoplasia, type 2 [RCV000465909]|Multiple endocrine neoplasia, type 2a [RCV000662818] Chr10:43113553 [GRCh38]
Chr10:43609001 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.405C>T (p.Gly135=) single nucleotide variant Hereditary cancer [RCV003492597]|Hereditary cancer-predisposing syndrome [RCV000130281]|Multiple endocrine neoplasia, type 2 [RCV000467605]|RET-related condition [RCV003422023]|not provided [RCV001565613] Chr10:43102409 [GRCh38]
Chr10:43597857 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.2498G>A (p.Arg833His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000132029]|Hirschsprung disease, susceptibility to, 1 [RCV003462028]|Multiple endocrine neoplasia, type 2 [RCV000474700] Chr10:43119636 [GRCh38]
Chr10:43615084 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2454G>A (p.Glu818=) single nucleotide variant Congenital central hypoventilation [RCV000764901]|Hereditary cancer-predisposing syndrome [RCV002255313]|Multiple endocrine neoplasia, type 2 [RCV001437744]|not provided [RCV000174792] Chr10:43119592 [GRCh38]
Chr10:43615040 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3 copy number gain See cases [RCV000134381] Chr10:42884294..52265317 [GRCh38]
Chr10:43379742..54025077 [GRCh37]
Chr10:42699748..53695083 [NCBI36]
Chr10:10q11.21-21.1
pathogenic
GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3 copy number gain See cases [RCV000134846] Chr10:42395201..50877059 [GRCh38]
Chr10:42890649..52636819 [GRCh37]
Chr10:42210655..52306825 [NCBI36]
Chr10:10q11.21-11.23
pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2
pathogenic
GRCh38/hg38 10q11.21(chr10:42395216-43234240)x3 copy number gain See cases [RCV000137126] Chr10:42395216..43234240 [GRCh38]
Chr10:42890664..43729688 [GRCh37]
Chr10:42210670..43049694 [NCBI36]
Chr10:10q11.21
uncertain significance
GRCh38/hg38 10q11.21(chr10:43126703-43372908)x3 copy number gain See cases [RCV000139028] Chr10:43126703..43372908 [GRCh38]
Chr10:43622151..43868356 [GRCh37]
Chr10:42942157..43188362 [NCBI36]
Chr10:10q11.21
uncertain significance
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22
benign
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 copy number gain See cases [RCV000142967] Chr10:42112187..67400675 [GRCh38]
Chr10:42607635..69160433 [GRCh37]
Chr10:41927641..68830439 [NCBI36]
Chr10:10q11.21-21.3
pathogenic
NM_020975.6(RET):c.3187+47T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001520525]|Multiple endocrine neoplasia, type 2a [RCV001795262]|Multiple endocrine neoplasia, type 2b [RCV001795263]|Pheochromocytoma [RCV001795261]|not specified [RCV000151742] Chr10:43126769 [GRCh38]
Chr10:43622217 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.135A>G (p.Ala45=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000860140]|Multiple endocrine neoplasia, type 2a [RCV001795270]|Multiple endocrine neoplasia, type 2b [RCV001795271]|Pheochromocytoma [RCV001795269]|not provided [RCV001727603]|not specified [RCV000153833] Chr10:43100520 [GRCh38]
Chr10:43595968 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.2307G>T (p.Leu769=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000860142]|Multiple endocrine neoplasia, type 2a [RCV001795273]|Multiple endocrine neoplasia, type 2b [RCV001795274]|Pheochromocytoma [RCV001795272]|not provided [RCV001727604]|not specified [RCV000153835] Chr10:43118395 [GRCh38]
Chr10:43613843 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.699G>A (p.Gln233=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000167044] Chr10:43105025 [GRCh38]
Chr10:43600473 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000162457]|Hirschsprung disease, susceptibility to, 1 [RCV000343184]|Multiple endocrine neoplasia [RCV000401667]|Multiple endocrine neoplasia, type 2 [RCV000168316]|Multiple endocrine neoplasia, type 2a [RCV000411142]|Multiple endocrine neoplasia, type 2b [RCV000409584]|Pheochromocytoma [RCV000339922]|Renal hypodysplasia/aplasia 1 [RCV000304884]|not provided [RCV002460938] Chr10:43128177 [GRCh38]
Chr10:43623625 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1765A>C (p.Ser589Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000165484]|Multiple endocrine neoplasia, type 2 [RCV001041131] Chr10:43113561 [GRCh38]
Chr10:43609009 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1884A>T (p.Pro628=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000165598] Chr10:43114484 [GRCh38]
Chr10:43609932 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1051G>A (p.Val351Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000167232]|Hirschsprung disease, susceptibility to, 1 [RCV002485039]|Multiple endocrine neoplasia, type 2 [RCV000553159] Chr10:43106559 [GRCh38]
Chr10:43602007 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.957C>A (p.Leu319=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163298]|Hirschsprung disease, susceptibility to, 1 [RCV000384830]|Multiple endocrine neoplasia [RCV000288125]|Multiple endocrine neoplasia, type 2 [RCV001084417]|Pheochromocytoma [RCV000275161]|Renal hypodysplasia/aplasia 1 [RCV000327857]|not provided [RCV000679757]|not specified [RCV001818363] Chr10:43106465 [GRCh38]
Chr10:43601913 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2523G>T (p.Pro841=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163299]|Hirschsprung disease, susceptibility to, 1 [RCV001105909]|Multiple endocrine neoplasia [RCV001104780]|Multiple endocrine neoplasia, type 2 [RCV001080805]|Pheochromocytoma [RCV001104779]|Renal hypodysplasia/aplasia 1 [RCV001105910]|not provided [RCV000679732]|not specified [RCV001818364] Chr10:43119661 [GRCh38]
Chr10:43615109 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1352C>T (p.Thr451Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000167414]|Multiple endocrine neoplasia, type 2 [RCV000654555]|not specified [RCV003226229] Chr10:43111295 [GRCh38]
Chr10:43606743 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2225C>T (p.Thr742Met) single nucleotide variant Congenital central hypoventilation [RCV000764899]|Hereditary cancer-predisposing syndrome [RCV000167451]|Multiple endocrine neoplasia, type 2 [RCV000654567]|Multiple endocrine neoplasia, type 2a [RCV000409934]|Multiple endocrine neoplasia, type 2b [RCV000409277] Chr10:43116672 [GRCh38]
Chr10:43612120 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.225G>A (p.Thr75=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163611]|Hirschsprung disease, susceptibility to, 1 [RCV001105642]|Multiple endocrine neoplasia [RCV001105643]|Multiple endocrine neoplasia, type 2 [RCV000200674]|Multiple endocrine neoplasia, type 2a [RCV000409943]|Multiple endocrine neoplasia, type 2b [RCV000412352]|Pheochromocytoma [RCV001103697]|Renal hypodysplasia/aplasia 1 [RCV001105644]|not specified [RCV000606849] Chr10:43100610 [GRCh38]
Chr10:43596058 [GRCh37]
Chr10:10q11.21
likely pathogenic|benign|likely benign|uncertain significance
NM_020975.6(RET):c.604G>A (p.Val202Met) single nucleotide variant Familial medullary thyroid carcinoma [RCV001292848]|Hereditary cancer-predisposing syndrome [RCV000163807]|Hirschsprung disease, susceptibility to, 1 [RCV002492650]|Medulloblastoma [RCV000761173]|Multiple endocrine neoplasia, type 2 [RCV000229469]|Multiple endocrine neoplasia, type 2a [RCV000411409]|Multiple endocrine neoplasia, type 2b [RCV000409859]|RET-related condition [RCV003945280]|not provided [RCV001575603]|not specified [RCV000455164] Chr10:43102608 [GRCh38]
Chr10:43598056 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3138C>A (p.Ala1046=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163809]|Multiple endocrine neoplasia, type 2 [RCV001085603]|RET-related condition [RCV003937498]|not provided [RCV000842686] Chr10:43126673 [GRCh38]
Chr10:43622121 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1197G>A (p.Pro399=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163896]|Multiple endocrine neoplasia, type 2 [RCV001079831]|Multiple endocrine neoplasia, type 2a [RCV000411900]|Multiple endocrine neoplasia, type 2b [RCV000410397]|RET-related condition [RCV003891697]|not provided [RCV000679712]|not specified [RCV001731412] Chr10:43109164 [GRCh38]
Chr10:43604612 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.682G>T (p.Ala228Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166643]|Multiple endocrine neoplasia, type 2 [RCV001850349] Chr10:43105008 [GRCh38]
Chr10:43600456 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1405G>C (p.Asp469His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000164265]|not provided [RCV003322753] Chr10:43111348 [GRCh38]
Chr10:43606796 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.548G>A (p.Gly183Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024171]|Hirschsprung disease, susceptibility to, 1 [RCV002485042]|Hirschsprung disease, susceptibility to, 1 [RCV003468818]|Multiple endocrine neoplasia, type 2 [RCV000167887] Chr10:43102552 [GRCh38]
Chr10:43598000 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.972G>C (p.Trp324Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381533]|Hirschsprung disease, susceptibility to, 1 [RCV001107613]|Multiple endocrine neoplasia [RCV001107611]|Multiple endocrine neoplasia, type 2 [RCV000167906]|Multiple endocrine neoplasia, type 2a [RCV000410975]|Multiple endocrine neoplasia, type 2b [RCV000409785]|Pheochromocytoma [RCV001107614]|Renal hypodysplasia/aplasia 1 [RCV001107612]|not provided [RCV000994377] Chr10:43106480 [GRCh38]
Chr10:43601928 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.3021G>T (p.Lys1007Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433721]|Multiple endocrine neoplasia, type 2 [RCV000168015] Chr10:43124964 [GRCh38]
Chr10:43620412 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1118C>T (p.Ala373Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017385]|Hirschsprung Disease, Dominant [RCV000338812]|Multiple endocrine neoplasia [RCV000393682]|Multiple endocrine neoplasia, type 2 [RCV000168246]|Multiple endocrine neoplasia, type 2a [RCV000662764]|Multiple endocrine neoplasia, type 2b [RCV003316068]|Pheochromocytoma [RCV000401362]|RET-related condition [RCV003937518]|Renal hypodysplasia/aplasia 1 [RCV000281539]|not specified [RCV000607370] Chr10:43109085 [GRCh38]
Chr10:43604533 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.262A>G (p.Ile88Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563081]|Multiple endocrine neoplasia, type 2 [RCV000168298]|Multiple endocrine neoplasia, type 2a [RCV000410050]|Multiple endocrine neoplasia, type 2b [RCV000412432]|RET-related condition [RCV003937519]|not provided [RCV001582661]|not specified [RCV000781813] Chr10:43100647 [GRCh38]
Chr10:43596095 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.5(RET):c.2731-?_*(1_?)del deletion Multiple endocrine neoplasia, type 2 [RCV000168417] Chr10:43121946..43128270 [GRCh38]
Chr10:43617394..43623718 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.4(RET):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV000182578] Chr10:43077259 [GRCh38]
Chr10:43572707 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.2542A>G (p.Met848Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015864]|Hirschsprung disease, susceptibility to, 1 [RCV002485208]|Multiple endocrine neoplasia, type 2 [RCV001237361]|not provided [RCV000182586] Chr10:43119680 [GRCh38]
Chr10:43615128 [GRCh37]
Chr10:10q11.21
likely pathogenic|uncertain significance
NM_020975.6(RET):c.2831T>G (p.Ile944Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297666] Chr10:43123700 [GRCh38]
Chr10:43619148 [GRCh37]
Chr10:10q11.21
likely pathogenic|uncertain significance
NM_020975.6(RET):c.2837C>T (p.Thr946Ile) single nucleotide variant not provided [RCV000182588] Chr10:43123706 [GRCh38]
Chr10:43619154 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.4(RET):c.2939T>A (p.Met980Lys) single nucleotide variant not provided [RCV000182589] Chr10:43123808 [GRCh38]
Chr10:43619256 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.3275A>G (p.Asn1092Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003645983] Chr10:43128199 [GRCh38]
Chr10:43623647 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019923]|Hirschsprung disease, susceptibility to, 1 [RCV002478618]|Hirschsprung disease, susceptibility to, 1 [RCV003462290]|Multiple endocrine neoplasia, type 2 [RCV000463602]|Multiple endocrine neoplasia, type 2a [RCV000662469]|not specified [RCV000456051] Chr10:43128238 [GRCh38]
Chr10:43623686 [GRCh37]
Chr10:10q11.21
likely pathogenic|likely benign|uncertain significance
NM_020975.6(RET):c.2846del (p.Gly949fs) deletion not provided [RCV000182592] Chr10:43123711 [GRCh38]
Chr10:43619159 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.4(RET):c.1073T>C (p.Leu358Pro) single nucleotide variant not provided [RCV000182593] Chr10:43109040 [GRCh38]
Chr10:43604488 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2234A>T (p.His745Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014896]|Hirschsprung disease, susceptibility to, 1 [RCV002485209]|Multiple endocrine neoplasia, type 2a [RCV000709120] Chr10:43116681 [GRCh38]
Chr10:43612129 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2839del (p.Thr946_Leu947insTer) deletion not provided [RCV000182597] Chr10:43123706 [GRCh38]
Chr10:43619154 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1300A>G (p.Ser434Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010856]|Hirschsprung disease, susceptibility to, 1 [RCV002503697]|Multiple endocrine neoplasia, type 2 [RCV000796293]|not provided [RCV000179967] Chr10:43111243 [GRCh38]
Chr10:43606691 [GRCh37]
Chr10:10q11.21
uncertain significance
NC_000010.11:g.43077033C>T single nucleotide variant not provided [RCV001549542] Chr10:43077033 [GRCh38]
Chr10:43572481 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2661G>A (p.Lys887=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016148]|Multiple endocrine neoplasia, type 2 [RCV000195455] Chr10:43120134 [GRCh38]
Chr10:43615582 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1648+5G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298264]|Hirschsprung disease, susceptibility to, 1 [RCV002485321]|Multiple endocrine neoplasia, type 2 [RCV000195571] Chr10:43112229 [GRCh38]
Chr10:43607677 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2289C>T (p.Asn763=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572176]|Multiple endocrine neoplasia, type 2 [RCV001081346]|Multiple endocrine neoplasia, type 2a [RCV000988345]|not provided [RCV000679730] Chr10:43118377 [GRCh38]
Chr10:43613825 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3231C>G (p.Leu1077=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444805]|Multiple endocrine neoplasia, type 2 [RCV000196017] Chr10:43128155 [GRCh38]
Chr10:43623603 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1103G>A (p.Arg368His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453728]|Hirschsprung disease, susceptibility to, 1 [RCV002478711]|Hirschsprung disease, susceptibility to, 1 [RCV003462336]|Multiple endocrine neoplasia, type 2 [RCV000196030]|RET-related condition [RCV003407710] Chr10:43109070 [GRCh38]
Chr10:43604518 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1063+7G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001475017] Chr10:43106578 [GRCh38]
Chr10:43602026 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2776C>G (p.His926Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433890]|Hirschsprung disease, susceptibility to, 1 [RCV002478713]|Multiple endocrine neoplasia, type 2 [RCV000196286]|not provided [RCV003441780] Chr10:43121991 [GRCh38]
Chr10:43617439 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.308A>G (p.His103Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321798]|Multiple endocrine neoplasia, type 2 [RCV000196485]|Multiple endocrine neoplasia, type 2a [RCV000411052]|Multiple endocrine neoplasia, type 2b [RCV000409523] Chr10:43100693 [GRCh38]
Chr10:43596141 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.582G>A (p.Gln194=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024579]|Multiple endocrine neoplasia, type 2 [RCV000196923]|Multiple endocrine neoplasia, type 2b [RCV003316111]|not provided [RCV003417724]|not specified [RCV000245877] Chr10:43102586 [GRCh38]
Chr10:43598034 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1890C>T (p.Cys630=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013471]|Hirschsprung disease, susceptibility to, 1 [RCV001102660]|Multiple endocrine neoplasia [RCV001102657]|Multiple endocrine neoplasia, type 2 [RCV000197302]|Pheochromocytoma [RCV001102659]|Renal hypodysplasia/aplasia 1 [RCV001102658]|not provided [RCV002225500]|not specified [RCV000506065] Chr10:43114490 [GRCh38]
Chr10:43609938 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1476C>G (p.Thr492=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011749]|Hirschsprung disease, susceptibility to, 1 [RCV002485313]|Multiple endocrine neoplasia, type 2 [RCV001082401]|not provided [RCV000679716] Chr10:43111419 [GRCh38]
Chr10:43606867 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2715C>T (p.Tyr905=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564113]|Hirschsprung disease, susceptibility to, 1 [RCV002485314]|Multiple endocrine neoplasia, type 2 [RCV000197737]|Multiple endocrine neoplasia, type 2a [RCV000662510] Chr10:43120188 [GRCh38]
Chr10:43615636 [GRCh37]
Chr10:10q11.21
pathogenic|benign|likely benign
NM_020975.6(RET):c.1150C>G (p.Pro384Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567892]|Multiple endocrine neoplasia, type 2 [RCV000197885]|Multiple endocrine neoplasia, type 2a [RCV000410243]|Multiple endocrine neoplasia, type 2b [RCV000412082] Chr10:43109117 [GRCh38]
Chr10:43604565 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.2601G>T (p.Glu867Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016073]|Multiple endocrine neoplasia, type 2 [RCV000197994]|RET-related condition [RCV003927861]|not provided [RCV003225040]|not specified [RCV003987446] Chr10:43119739 [GRCh38]
Chr10:43615187 [GRCh37]
Chr10:10q11.21
likely pathogenic|likely benign|uncertain significance
NM_020975.6(RET):c.1688A>C (p.Lys563Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408884]|Multiple endocrine neoplasia, type 2 [RCV000198118] Chr10:43112892 [GRCh38]
Chr10:43608340 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2931C>G (p.Ser977Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017530]|Hirschsprung disease, susceptibility to, 1 [RCV002492921]|Hirschsprung disease, susceptibility to, 1 [RCV003462337]|Multiple endocrine neoplasia, type 2 [RCV000198200]|Multiple endocrine neoplasia, type 2a [RCV000662775]|not provided [RCV000679738] Chr10:43123800 [GRCh38]
Chr10:43619248 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1695C>T (p.Cys565=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012677]|Multiple endocrine neoplasia, type 2 [RCV000198348]|RET-related condition [RCV003917811] Chr10:43112899 [GRCh38]
Chr10:43608347 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3182T>C (p.Leu1061Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569228]|Hirschsprung disease, susceptibility to, 1 [RCV003462338]|Multiple endocrine neoplasia, type 2 [RCV000198421]|Multiple endocrine neoplasia, type 2a [RCV000662784]|not specified [RCV000454885] Chr10:43126717 [GRCh38]
Chr10:43622165 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2088G>A (p.Ser696=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572256]|Hirschsprung disease, susceptibility to, 1 [RCV000342100]|Multiple endocrine neoplasia [RCV000286968]|Multiple endocrine neoplasia, type 2 [RCV000198466]|Pheochromocytoma [RCV000400174]|Renal hypodysplasia/aplasia 1 [RCV000297432]|not provided [RCV001753599]|not specified [RCV000612709] Chr10:43114688 [GRCh38]
Chr10:43610136 [GRCh37]
Chr10:10q11.21
likely pathogenic|benign|likely benign
NM_020975.4(RET):c.(?_-1)_(*1_?)dup duplication Multiple endocrine neoplasia, type 2 [RCV000198928] Chr10:10q11.21 uncertain significance
NM_020975.6(RET):c.1188G>A (p.Ser396=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573373]|Multiple endocrine neoplasia, type 2 [RCV000199148]|Multiple endocrine neoplasia, type 2a [RCV000663114]|not provided [RCV003417723] Chr10:43109155 [GRCh38]
Chr10:43604603 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu) microsatellite Hereditary cancer-predisposing syndrome [RCV002257499]|Hirschsprung disease, susceptibility to, 1 [RCV002485322]|Multiple endocrine neoplasia, type 2 [RCV000199248]|Multiple endocrine neoplasia, type 2a [RCV000709099]|not provided [RCV000597959]|not specified [RCV003155120] Chr10:43077301..43077302 [GRCh38]
Chr10:43572749..43572750 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.2988G>A (p.Pro996=) single nucleotide variant Appendicitis [RCV001289998]|Hereditary cancer-predisposing syndrome [RCV000569522]|Hirschsprung disease, susceptibility to, 1 [RCV000345815]|Multiple endocrine neoplasia [RCV000395274]|Multiple endocrine neoplasia, type 2 [RCV000199267]|Multiple endocrine neoplasia, type 2a [RCV000662488]|Pheochromocytoma [RCV000291942]|Renal hypodysplasia/aplasia 1 [RCV000288556]|not provided [RCV003326372]|not specified [RCV000253581] Chr10:43124931 [GRCh38]
Chr10:43620379 [GRCh37]
Chr10:10q11.21
pathogenic|benign|likely benign|uncertain significance
NM_020975.6(RET):c.2607+9A>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001482289] Chr10:43119754 [GRCh38]
Chr10:43615202 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.977A>G (p.Gln326Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574518]|Hirschsprung disease, susceptibility to, 1 [RCV002485323]|Hirschsprung disease, susceptibility to, 1 [RCV003462340]|Multiple endocrine neoplasia, type 2 [RCV000199477]|Multiple endocrine neoplasia, type 2a [RCV000662571]|not provided [RCV002284372] Chr10:43106485 [GRCh38]
Chr10:43601933 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2607+4C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016043]|Multiple endocrine neoplasia, type 2 [RCV000199849]|Multiple endocrine neoplasia, type 2a [RCV000410597]|Multiple endocrine neoplasia, type 2b [RCV000409038]|RET-related condition [RCV003895275]|not provided [RCV003477672] Chr10:43119749 [GRCh38]
Chr10:43615197 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1737C>G (p.Asn579Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566376]|Hirschsprung disease, susceptibility to, 1 [RCV001824681]|Hirschsprung disease, susceptibility to, 1 [RCV002492920]|Multiple endocrine neoplasia, type 2 [RCV000199970]|not provided [RCV000679723] Chr10:43112941 [GRCh38]
Chr10:43608389 [GRCh37]
Chr10:10q11.21
uncertain significance|not provided
NM_020975.6(RET):c.334C>T (p.Arg112Cys) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV002470810]|Hereditary cancer-predisposing syndrome [RCV000572326]|Hirschsprung disease, susceptibility to, 1 [RCV000374792]|Multiple endocrine neoplasia [RCV000283887]|Multiple endocrine neoplasia, type 2 [RCV000200291]|Multiple endocrine neoplasia, type 2a [RCV000663300]|Pheochromocytoma [RCV000322527]|Renal hypodysplasia/aplasia 1 [RCV000380664] Chr10:43100719 [GRCh38]
Chr10:43596167 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.468C>T (p.Ala156=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561761]|Hirschsprung disease, susceptibility to, 1 [RCV002500618]|Multiple endocrine neoplasia, type 2 [RCV000200388]|not provided [RCV003736636]|not specified [RCV000607836] Chr10:43102472 [GRCh38]
Chr10:43597920 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.431G>A (p.Arg144His) single nucleotide variant Familial medullary thyroid carcinoma [RCV001294032]|Hereditary cancer-predisposing syndrome [RCV000565710]|Hirschsprung disease, susceptibility to, 1 [RCV002500624]|Multiple endocrine neoplasia, type 2 [RCV000200522]|Multiple endocrine neoplasia, type 2a [RCV000662542] Chr10:43102435 [GRCh38]
Chr10:43597883 [GRCh37]
Chr10:10q11.21
likely pathogenic|uncertain significance
NM_020975.6(RET):c.1782C>T (p.His594=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399740]|Multiple endocrine neoplasia, type 2 [RCV000200557]|not provided [RCV001531683] Chr10:43113578 [GRCh38]
Chr10:43609026 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.144G>A (p.Thr48=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011645]|Hirschsprung disease, susceptibility to, 1 [RCV002503779]|Multiple endocrine neoplasia, type 2 [RCV001086694]|RET-related condition [RCV003955208]|not provided [RCV000827021] Chr10:43100529 [GRCh38]
Chr10:43595977 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2939+6C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001087395]|Multiple endocrine neoplasia, type 2a [RCV000663279]|not provided [RCV000679739] Chr10:43123814 [GRCh38]
Chr10:43619262 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1897C>G (p.Leu633Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165476]|Hirschsprung disease, susceptibility to, 1 [RCV002503784]|Multiple endocrine neoplasia, type 2 [RCV000196130]|Multiple endocrine neoplasia, type 2a [RCV000411153]|Multiple endocrine neoplasia, type 2b [RCV000410079]|not provided [RCV002478712] Chr10:43114497 [GRCh38]
Chr10:43609945 [GRCh37]
Chr10:10q11.21
pathogenic|uncertain significance
NM_020975.6(RET):c.406G>A (p.Glu136Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571944]|Hirschsprung disease, susceptibility to, 1 [RCV002503785]|Hirschsprung disease, susceptibility to, 1 [RCV003462339]|Multiple endocrine neoplasia, type 2 [RCV000197380]|Multiple endocrine neoplasia, type 2a [RCV000662413]|Ovarian cancer [RCV003153474]|not provided [RCV000679750]|not specified [RCV000678743] Chr10:43102410 [GRCh38]
Chr10:43597858 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.1678C>T (p.Pro560Ser) single nucleotide variant Hereditary cancer [RCV003491956]|Hereditary cancer-predisposing syndrome [RCV002399762]|Multiple endocrine neoplasia, type 2 [RCV000204252] Chr10:43112882 [GRCh38]
Chr10:43608330 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.517T>C (p.Ser173Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336561]|Hirschsprung disease, susceptibility to, 1 [RCV002485343]|Multiple endocrine neoplasia, type 2 [RCV000204256] Chr10:43102521 [GRCh38]
Chr10:43597969 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2730+5C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000204271] Chr10:43120208 [GRCh38]
Chr10:43615656 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1943T>C (p.Val648Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000204329] Chr10:43114543 [GRCh38]
Chr10:43609991 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.654G>A (p.Pro218=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570184]|Hirschsprung disease, susceptibility to, 1 [RCV000342504]|Multiple endocrine neoplasia [RCV000303924]|Multiple endocrine neoplasia, type 2 [RCV001083416]|Pheochromocytoma [RCV000344061]|Renal hypodysplasia/aplasia 1 [RCV000398250]|not provided [RCV000679755]|not specified [RCV000595562] Chr10:43104980 [GRCh38]
Chr10:43600428 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.1404T>C (p.Asn468=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002390541]|Multiple endocrine neoplasia, type 2 [RCV001405019] Chr10:43111347 [GRCh38]
Chr10:43606795 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2137-10T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000204531] Chr10:43116574 [GRCh38]
Chr10:43612022 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1223A>T (p.Tyr408Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000204565] Chr10:43109190 [GRCh38]
Chr10:43604638 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2393-9C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256114]|Hirschsprung disease, susceptibility to, 1 [RCV002503802]|Multiple endocrine neoplasia, type 2 [RCV000204697]|Multiple endocrine neoplasia, type 2a [RCV000662436]|Multiple endocrine neoplasia, type 2b [RCV003316133] Chr10:43119522 [GRCh38]
Chr10:43614970 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.3279T>C (p.Asp1093=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001491780] Chr10:43128203 [GRCh38]
Chr10:43623651 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1253G>C (p.Arg418Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564885]|Hirschsprung disease, susceptibility to, 1 [RCV002478724]|Multiple endocrine neoplasia, type 2 [RCV000205043] Chr10:43109220 [GRCh38]
Chr10:43604668 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1264-5C>G single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV003468947]|Multiple endocrine neoplasia, type 2 [RCV001493874] Chr10:43111202 [GRCh38]
Chr10:43606650 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2226G>A (p.Thr742=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575112]|Multiple endocrine neoplasia, type 2 [RCV001083002]|Multiple endocrine neoplasia, type 2a [RCV000409060]|Multiple endocrine neoplasia, type 2b [RCV000411512]|not provided [RCV000205202] Chr10:43116673 [GRCh38]
Chr10:43612121 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.1530C>T (p.Ala510=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000576018]|Hirschsprung disease, susceptibility to, 1 [RCV002494522]|Multiple endocrine neoplasia, type 2 [RCV000205208]|Multiple endocrine neoplasia, type 2a [RCV000410799]|Multiple endocrine neoplasia, type 2b [RCV000409713] Chr10:43112106 [GRCh38]
Chr10:43607554 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.1052T>A (p.Val351Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399761]|Hirschsprung disease, susceptibility to, 1 [RCV003462370]|Multiple endocrine neoplasia, type 2 [RCV000205293]|Ovarian cancer [RCV003153481] Chr10:43106560 [GRCh38]
Chr10:43602008 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.951G>A (p.Thr317=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574221]|Multiple endocrine neoplasia, type 2 [RCV000205297]|Multiple endocrine neoplasia, type 2b [RCV003316129]|not specified [RCV000251081] Chr10:43106459 [GRCh38]
Chr10:43601907 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1124T>A (p.Leu375Gln) single nucleotide variant Congenital central hypoventilation [RCV001294030]|Hereditary cancer-predisposing syndrome [RCV000564599]|Multiple endocrine neoplasia, type 2 [RCV001083800]|RET-related condition [RCV003937784]|not provided [RCV000591528]|not specified [RCV001532950] Chr10:43109091 [GRCh38]
Chr10:43604539 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.2477A>C (p.Tyr826Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015653]|Hirschsprung disease, susceptibility to, 1 [RCV003462382]|Multiple endocrine neoplasia, type 2 [RCV000205464]|Multiple endocrine neoplasia, type 2a [RCV000412172]|Multiple endocrine neoplasia, type 2b [RCV000411008]|not provided [RCV000679731]|not specified [RCV003320137] Chr10:43119615 [GRCh38]
Chr10:43615063 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.1904G>A (p.Arg635His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408893]|Hirschsprung disease, susceptibility to, 1 [RCV002485344]|Multiple endocrine neoplasia, type 2 [RCV000205542] Chr10:43114504 [GRCh38]
Chr10:43609952 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2246G>C (p.Arg749Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561271]|Multiple endocrine neoplasia, type 2 [RCV000205614] Chr10:43116693 [GRCh38]
Chr10:43612141 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.819C>T (p.Pro273=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574624]|Multiple endocrine neoplasia, type 2 [RCV000205633] Chr10:43105145 [GRCh38]
Chr10:43600593 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2547C>T (p.Gly849=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015918]|Multiple endocrine neoplasia, type 2 [RCV000205722]|not specified [RCV000454735] Chr10:43119685 [GRCh38]
Chr10:43615133 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2284+54C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256118]|Multiple endocrine neoplasia, type 2 [RCV000205741]|Multiple endocrine neoplasia, type 2a [RCV000663014]|not provided [RCV000727042]|not specified [RCV000597255] Chr10:43116785 [GRCh38]
Chr10:43612233 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.2298G>A (p.Pro766=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015052]|Multiple endocrine neoplasia, type 2 [RCV000205891]|Multiple endocrine neoplasia, type 2a [RCV000410239]|Multiple endocrine neoplasia, type 2b [RCV000412216]|not provided [RCV002225506] Chr10:43118386 [GRCh38]
Chr10:43613834 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.2544G>A (p.Met848Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015870]|Multiple endocrine neoplasia, type 2 [RCV000205988] Chr10:43119682 [GRCh38]
Chr10:43615130 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.832A>G (p.Thr278Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017556]|Hirschsprung disease, susceptibility to, 1 [RCV002485347]|Multiple endocrine neoplasia, type 2 [RCV000205998]|Multiple endocrine neoplasia, type 2a [RCV000662513] Chr10:43105158 [GRCh38]
Chr10:43600606 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.159C>T (p.Val53=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012368]|Multiple endocrine neoplasia, type 2 [RCV000206133] Chr10:43100544 [GRCh38]
Chr10:43595992 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1064-6C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001079999]|not provided [RCV000679708] Chr10:43109025 [GRCh38]
Chr10:43604473 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.682G>C (p.Ala228Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571565]|Hirschsprung disease, susceptibility to, 1 [RCV002494530]|Multiple endocrine neoplasia, type 2 [RCV000206221]|RET-related condition [RCV003977568]|not provided [RCV003148679] Chr10:43105008 [GRCh38]
Chr10:43600456 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2887C>A (p.Leu963Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016859]|Hirschsprung disease, susceptibility to, 1 [RCV003462384]|Multiple endocrine neoplasia, type 2 [RCV000206385]|Multiple endocrine neoplasia, type 2a [RCV000662412]|not provided [RCV003441786] Chr10:43123756 [GRCh38]
Chr10:43619204 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.868-18G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000210769]|Multiple endocrine neoplasia, type 2 [RCV000206444]|Multiple endocrine neoplasia, type 2a [RCV000409257]|Multiple endocrine neoplasia, type 2b [RCV000411696]|not provided [RCV001675672]|not specified [RCV000242363] Chr10:43106358 [GRCh38]
Chr10:43601806 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.3265A>C (p.Arg1089=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001481211] Chr10:43128189 [GRCh38]
Chr10:43623637 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1253G>A (p.Arg418Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561732]|Hirschsprung disease, susceptibility to, 1 [RCV002494521]|Multiple endocrine neoplasia, type 2 [RCV000206643]|not provided [RCV002285278] Chr10:43109220 [GRCh38]
Chr10:43604668 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.3206G>C (p.Trp1069Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321813]|Hirschsprung disease, susceptibility to, 1 [RCV003468952]|Multiple endocrine neoplasia, type 2 [RCV000204078]|Multiple endocrine neoplasia, type 2a [RCV000409674]|Multiple endocrine neoplasia, type 2b [RCV000411663] Chr10:43128130 [GRCh38]
Chr10:43623578 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2136+15_2136+35del deletion Multiple endocrine neoplasia, type 2 [RCV000204171] Chr10:43114745..43114765 [GRCh38]
Chr10:43610193..43610213 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1017G>A (p.Ser339=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573318]|Multiple endocrine neoplasia, type 2 [RCV000204203]|Multiple endocrine neoplasia, type 2a [RCV000411051]|Multiple endocrine neoplasia, type 2b [RCV000409969]|not provided [RCV003417752] Chr10:43106525 [GRCh38]
Chr10:43601973 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.68G>A (p.Gly23Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563458]|Multiple endocrine neoplasia, type 2 [RCV001047359] Chr10:43077326 [GRCh38]
Chr10:43572774 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.76G>T (p.Ala26Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000546416] Chr10:43100461 [GRCh38]
Chr10:43595909 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.973G>A (p.Ala325Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566312]|Hirschsprung disease, susceptibility to, 1 [RCV003459267]|Multiple endocrine neoplasia, type 2 [RCV000528670]|Multiple endocrine neoplasia, type 2a [RCV000709105]|not provided [RCV003327423] Chr10:43106481 [GRCh38]
Chr10:43601929 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.46C>T (p.Leu16=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022921]|Multiple endocrine neoplasia, type 2 [RCV000526087] Chr10:43077304 [GRCh38]
Chr10:43572752 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1863G>C (p.Glu621Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562077] Chr10:43113659 [GRCh38]
Chr10:43609107 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1015T>C (p.Ser339Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001064909] Chr10:43106523 [GRCh38]
Chr10:43601971 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1765A>T (p.Ser589Cys) single nucleotide variant not provided [RCV000756596] Chr10:43113561 [GRCh38]
Chr10:43609009 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2548G>T (p.Asp850Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000217246]|Multiple endocrine neoplasia, type 2 [RCV000469457]|not provided [RCV002464149] Chr10:43119686 [GRCh38]
Chr10:43615134 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.828C>G (p.Val276=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000222079]|Multiple endocrine neoplasia, type 2 [RCV000936978] Chr10:43105154 [GRCh38]
Chr10:43600602 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2913G>A (p.Glu971=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000222154]|Multiple endocrine neoplasia, type 2 [RCV002515693] Chr10:43123782 [GRCh38]
Chr10:43619230 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2462A>G (p.Lys821Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000217517] Chr10:43119600 [GRCh38]
Chr10:43615048 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2492G>T (p.Gly831Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000220151]|Multiple endocrine neoplasia, type 2 [RCV001225645] Chr10:43119630 [GRCh38]
Chr10:43615078 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.20G>A (p.Gly7Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567089]|Hirschsprung disease, susceptibility to, 1 [RCV002497216]|Hirschsprung disease, susceptibility to, 1 [RCV003459397]|Malignant tumor of breast [RCV001269372]|Multiple endocrine neoplasia, type 2 [RCV000688487]|not provided [RCV003314623] Chr10:43077278 [GRCh38]
Chr10:43572726 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.981G>C (p.Gln327His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000217812]|Multiple endocrine neoplasia, type 2 [RCV002518253] Chr10:43106489 [GRCh38]
Chr10:43601937 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1437C>A (p.Ala479=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000217892]|Multiple endocrine neoplasia, type 2 [RCV002057209] Chr10:43111380 [GRCh38]
Chr10:43606828 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1266C>T (p.Ile422=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000213826]|Multiple endocrine neoplasia, type 2 [RCV000654617]|RET-related condition [RCV003897499] Chr10:43111209 [GRCh38]
Chr10:43606657 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1521A>T (p.Ser507=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000220346]|not provided [RCV003417794] Chr10:43111464 [GRCh38]
Chr10:43606912 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2485A>G (p.Ser829Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000220486]|Multiple endocrine neoplasia, type 2 [RCV000560108] Chr10:43119623 [GRCh38]
Chr10:43615071 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2461A>G (p.Lys821Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000220695]|Multiple endocrine neoplasia, type 2 [RCV000692117] Chr10:43119599 [GRCh38]
Chr10:43615047 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2719A>C (p.Lys907Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000222470]|Multiple endocrine neoplasia, type 2 [RCV001059376] Chr10:43120192 [GRCh38]
Chr10:43615640 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1523-236C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000208981] Chr10:43111863 [GRCh38]
Chr10:43607311 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1341C>T (p.Ala447=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000214454] Chr10:43111284 [GRCh38]
Chr10:43606732 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.544C>T (p.Pro182Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000216372]|Multiple endocrine neoplasia, type 2 [RCV000555816] Chr10:43102548 [GRCh38]
Chr10:43597996 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1066C>T (p.Leu356=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000218715] Chr10:43109033 [GRCh38]
Chr10:43604481 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1445A>G (p.His482Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000221247]|Multiple endocrine neoplasia, type 2 [RCV001853590] Chr10:43111388 [GRCh38]
Chr10:43606836 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1649-5T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000222946]|Multiple endocrine neoplasia, type 2 [RCV000533098] Chr10:43112848 [GRCh38]
Chr10:43608296 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2607+3G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000221313]|Hirschsprung disease, susceptibility to, 1 [RCV002478808]|Multiple endocrine neoplasia, type 2 [RCV001853607] Chr10:43119748 [GRCh38]
Chr10:43615196 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.-2C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572702]|Hirschsprung disease, susceptibility to, 1 [RCV002503860]|RET-related condition [RCV003919883]|not provided [RCV001580474]|not specified [RCV000221356] Chr10:43077257 [GRCh38]
Chr10:43572705 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.45G>A (p.Leu15=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000221426]|Multiple endocrine neoplasia, type 2 [RCV001456423]|not provided [RCV000679751] Chr10:43077303 [GRCh38]
Chr10:43572751 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.156C>T (p.Tyr52=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404574]|Multiple endocrine neoplasia, type 2 [RCV000543224] Chr10:43100541 [GRCh38]
Chr10:43595989 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2548G>A (p.Asp850Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000216677]|Multiple endocrine neoplasia, type 2 [RCV001857757] Chr10:43119686 [GRCh38]
Chr10:43615134 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) single nucleotide variant Familial medullary thyroid carcinoma [RCV001589145]|Hereditary cancer-predisposing syndrome [RCV000219014]|Hirschsprung disease, susceptibility to, 1 [RCV003462451]|Multiple endocrine neoplasia, type 2 [RCV000556223]|Multiple endocrine neoplasia, type 2a [RCV003137821]|Multiple endocrine neoplasia, type 2b [RCV002265692]|Multiple endocrine neoplasia, type 2b [RCV002463360]|RET-related condition [RCV003919888] Chr10:43114598 [GRCh38]
Chr10:43610046 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic|uncertain significance|not provided
NM_020975.6(RET):c.169C>T (p.Arg57Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000219195]|Multiple endocrine neoplasia, type 2 [RCV001857759] Chr10:43100554 [GRCh38]
Chr10:43596002 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3039+5G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000216936] Chr10:43124987 [GRCh38]
Chr10:43620435 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2287A>G (p.Asn763Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444920]|Multiple endocrine neoplasia, type 2 [RCV000229757] Chr10:43118375 [GRCh38]
Chr10:43613823 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1050C>T (p.Thr350=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569281]|Hirschsprung disease, susceptibility to, 1 [RCV002500809]|Multiple endocrine neoplasia, type 2 [RCV001079493]|RET-related condition [RCV003939884]|not provided [RCV001812652] Chr10:43106558 [GRCh38]
Chr10:43602006 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.3113C>T (p.Thr1038Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567853]|Hirschsprung disease, susceptibility to, 1 [RCV002500812]|Multiple endocrine neoplasia, type 2 [RCV000228519]|not provided [RCV001589196]|not specified [RCV001820760] Chr10:43126648 [GRCh38]
Chr10:43622096 [GRCh37]
Chr10:10q11.21
likely pathogenic|likely benign|uncertain significance
NM_020975.6(RET):c.139G>A (p.Gly47Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392716]|Multiple endocrine neoplasia, type 2 [RCV000230397]|Multiple endocrine neoplasia, type 2a [RCV000662387]|not specified [RCV001820759] Chr10:43100524 [GRCh38]
Chr10:43595972 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.296G>A (p.Arg99Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017730]|Multiple endocrine neoplasia, type 2 [RCV000230694] Chr10:43100681 [GRCh38]
Chr10:43596129 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.3201G>A (p.Pro1067=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321885]|Multiple endocrine neoplasia, type 2 [RCV001446501] Chr10:43128125 [GRCh38]
Chr10:43623573 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1866C>G (p.Pro622=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013449]|Multiple endocrine neoplasia, type 2 [RCV000228979]|not specified [RCV002479927] Chr10:43113662 [GRCh38]
Chr10:43609110 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.3333G>A (p.Thr1111=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020014]|Multiple endocrine neoplasia, type 2 [RCV000229289] Chr10:43128257 [GRCh38]
Chr10:43623705 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3203del (p.Asn1068fs) deletion Multiple endocrine neoplasia, type 2 [RCV000231461] Chr10:43128126 [GRCh38]
Chr10:43623574 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1921G>A (p.Ala641Thr) single nucleotide variant Familial medullary thyroid carcinoma [RCV001292757]|Hereditary cancer-predisposing syndrome [RCV002411060]|Hirschsprung disease, susceptibility to, 1 [RCV002487084]|Hirschsprung disease, susceptibility to, 1 [RCV003463677]|Multiple endocrine neoplasia, type 2 [RCV000229577]|Multiple endocrine neoplasia, type 2a [RCV000662388]|not provided [RCV002508206] Chr10:43114521 [GRCh38]
Chr10:43609969 [GRCh37]
Chr10:10q11.21
pathogenic|likely benign|uncertain significance
NM_020975.6(RET):c.3142C>T (p.Leu1048Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561888]|Multiple endocrine neoplasia, type 2 [RCV001087687]|not provided [RCV000679745] Chr10:43126677 [GRCh38]
Chr10:43622125 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.2052G>A (p.Pro684=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566200]|Hirschsprung disease, susceptibility to, 1 [RCV000300341]|Multiple endocrine neoplasia [RCV000273369]|Multiple endocrine neoplasia, type 2 [RCV001082755]|Pheochromocytoma [RCV000263785]|Renal hypodysplasia/aplasia 1 [RCV000369018]|not provided [RCV000679726]|not specified [RCV000616095] Chr10:43114652 [GRCh38]
Chr10:43610100 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln) single nucleotide variant Hereditary cancer [RCV003492013]|Hereditary cancer-predisposing syndrome [RCV000563947]|Hirschsprung disease, susceptibility to, 1 [RCV003463679]|Multiple endocrine neoplasia, type 2 [RCV000225774]|Multiple endocrine neoplasia, type 2b [RCV001196701]|not provided [RCV000679746] Chr10:43126684 [GRCh38]
Chr10:43622132 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.1063+9G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256169]|Hirschsprung disease, susceptibility to, 1 [RCV001103996]|Multiple endocrine neoplasia [RCV001103999]|Multiple endocrine neoplasia, type 2 [RCV000232595]|Multiple endocrine neoplasia, type 2a [RCV000409561]|Multiple endocrine neoplasia, type 2b [RCV000412024]|Pheochromocytoma [RCV001103997]|RET-related condition [RCV003897561]|Renal hypodysplasia/aplasia 1 [RCV001103998]|not provided [RCV001567894]|not specified [RCV000454826] Chr10:43106580 [GRCh38]
Chr10:43602028 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.2607+3G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429132]|Multiple endocrine neoplasia, type 2 [RCV000232760]|RET-related condition [RCV003955365] Chr10:43119748 [GRCh38]
Chr10:43615196 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1538C>T (p.Ala513Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012091]|Multiple endocrine neoplasia, type 2 [RCV000230991]|Multiple endocrine neoplasia, type 2a [RCV000662955] Chr10:43112114 [GRCh38]
Chr10:43607562 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2554A>G (p.Ile852Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015912]|Multiple endocrine neoplasia, type 2 [RCV001080707]|Multiple endocrine neoplasia, type 2b [RCV003316302]|not provided [RCV000679733] Chr10:43119692 [GRCh38]
Chr10:43615140 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.2742A>G (p.Pro914=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571907]|Hirschsprung disease, susceptibility to, 1 [RCV002494658]|Multiple endocrine neoplasia, type 2 [RCV000231230]|RET-related condition [RCV003897562] Chr10:43121957 [GRCh38]
Chr10:43617405 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.57_65dup (p.Leu22_Gly23insProLeuLeu) duplication Hereditary cancer-predisposing syndrome [RCV002347912]|Multiple endocrine neoplasia, type 2 [RCV000225980] Chr10:43077308..43077309 [GRCh38]
Chr10:43572756..43572757 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2427C>T (p.Tyr809=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573753]|Hirschsprung disease, susceptibility to, 1 [RCV002500810]|Multiple endocrine neoplasia, type 2 [RCV000233277] Chr10:43119565 [GRCh38]
Chr10:43615013 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.2538C>T (p.Leu846=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565745]|Hirschsprung disease, susceptibility to, 1 [RCV001105911]|Multiple endocrine neoplasia [RCV001105912]|Multiple endocrine neoplasia, type 2 [RCV000227054]|Pheochromocytoma [RCV001105914]|Renal hypodysplasia/aplasia 1 [RCV001105913]|not provided [RCV003477834]|not specified [RCV002469084] Chr10:43119676 [GRCh38]
Chr10:43615124 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.1777G>A (p.Gly593Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401902]|Multiple endocrine neoplasia, type 2 [RCV000233935]|Multiple endocrine neoplasia, type 2a [RCV000662885] Chr10:43113573 [GRCh38]
Chr10:43609021 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2397G>C (p.Pro799=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444921]|Multiple endocrine neoplasia, type 2 [RCV000227577] Chr10:43119535 [GRCh38]
Chr10:43614983 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1462A>T (p.Thr488Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011698]|Hirschsprung disease, susceptibility to, 1 [RCV001107140]|Multiple endocrine neoplasia [RCV001107800]|Multiple endocrine neoplasia, type 2 [RCV000234316]|Multiple endocrine neoplasia, type 2a [RCV000709111]|Pheochromocytoma [RCV001107139]|Renal hypodysplasia/aplasia 1 [RCV001107138]|not provided [RCV001770206] Chr10:43111405 [GRCh38]
Chr10:43606853 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.528T>G (p.Ile176Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000233343] Chr10:43102532 [GRCh38]
Chr10:43597980 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.624G>T (p.Glu208Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565461]|Multiple endocrine neoplasia, type 2 [RCV000233399]|RET-related condition [RCV003919977] Chr10:43102628 [GRCh38]
Chr10:43598076 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.2802-4G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564506]|Multiple endocrine neoplasia, type 2 [RCV000234020]|Multiple endocrine neoplasia, type 2a [RCV000662545]|RET-related condition [RCV003897563] Chr10:43123667 [GRCh38]
Chr10:43619115 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2085C>G (p.Pro695=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418024]|Multiple endocrine neoplasia, type 2 [RCV001402288] Chr10:43114685 [GRCh38]
Chr10:43610133 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3247A>G (p.Thr1083Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000226511] Chr10:43128171 [GRCh38]
Chr10:43623619 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1915G>A (p.Ala639Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013684]|Hirschsprung disease, susceptibility to, 1 [RCV003469160]|Multiple endocrine neoplasia, type 2 [RCV000226795]|Multiple endocrine neoplasia, type 2a [RCV000410332]|Multiple endocrine neoplasia, type 2b [RCV000409197]|not provided [RCV000679725] Chr10:43114515 [GRCh38]
Chr10:43609963 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.3005G>A (p.Ser1002Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018013]|Hirschsprung disease, susceptibility to, 1 [RCV002500811]|Hirschsprung disease, susceptibility to, 1 [RCV003463678]|Multiple endocrine neoplasia, type 2 [RCV000234755]|not provided [RCV000992303] Chr10:43124948 [GRCh38]
Chr10:43620396 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2898C>T (p.Thr966=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436038]|Multiple endocrine neoplasia, type 2 [RCV000229060] Chr10:43123767 [GRCh38]
Chr10:43619215 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1522+35C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257596]|Multiple endocrine neoplasia, type 2 [RCV000227098]|Multiple endocrine neoplasia, type 2a [RCV000412335]|Multiple endocrine neoplasia, type 2b [RCV000410817]|RET-related condition [RCV003947794]|not provided [RCV001172033]|not specified [RCV000456055] Chr10:43111500 [GRCh38]
Chr10:43606948 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.1092C>T (p.Ile364=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444919]|Multiple endocrine neoplasia, type 2 [RCV000227493] Chr10:43109059 [GRCh38]
Chr10:43604507 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2939+7G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001102949]|Multiple endocrine neoplasia [RCV001108156]|Multiple endocrine neoplasia, type 2 [RCV000526600]|Pheochromocytoma [RCV001108157]|Renal hypodysplasia/aplasia 1 [RCV001102948] Chr10:43123815 [GRCh38]
Chr10:43619263 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1264-8C>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001107718]|Multiple endocrine neoplasia [RCV001107717]|Multiple endocrine neoplasia, type 2 [RCV001079777]|Pheochromocytoma [RCV001107716]|RET-related condition [RCV003905475]|Renal hypodysplasia/aplasia 1 [RCV001107715] Chr10:43111199 [GRCh38]
Chr10:43606647 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2418C>G (p.Tyr806Ter) single nucleotide variant not provided [RCV000314983] Chr10:43119556 [GRCh38]
Chr10:43615004 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.2496C>G (p.Ser832Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562690]|Hirschsprung disease, susceptibility to, 1 [RCV003459401]|Multiple endocrine neoplasia, type 2 [RCV002528996] Chr10:43119634 [GRCh38]
Chr10:43615082 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3252C>T (p.Asn1084=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562831]|Multiple endocrine neoplasia, type 2 [RCV001396608] Chr10:43128176 [GRCh38]
Chr10:43623624 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.322A>C (p.Lys108Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019322]|Multiple endocrine neoplasia, type 2 [RCV000546040]|Multiple endocrine neoplasia, type 2b [RCV003316732]|RET-related condition [RCV003935556]|not provided [RCV003237925] Chr10:43100707 [GRCh38]
Chr10:43596155 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.718G>C (p.Val240Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565358]|Hirschsprung disease, susceptibility to, 1 [RCV001103893]|Multiple endocrine neoplasia [RCV001103894]|Multiple endocrine neoplasia, type 2 [RCV000533533]|Pheochromocytoma [RCV001103892]|Renal hypodysplasia/aplasia 1 [RCV001103895] Chr10:43105044 [GRCh38]
Chr10:43600492 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.109T>C (p.Trp37Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448800]|Multiple endocrine neoplasia, type 2 [RCV000530645] Chr10:43100494 [GRCh38]
Chr10:43595942 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.868-6C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256185]|Hirschsprung disease, susceptibility to, 1 [RCV002487137]|Multiple endocrine neoplasia, type 2 [RCV000871257]|not specified [RCV000246361] Chr10:43106370 [GRCh38]
Chr10:43601818 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3059C>T (p.Ala1020Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018359]|Hirschsprung disease, susceptibility to, 1 [RCV002476202]|Hirschsprung disease, susceptibility to, 1 [RCV003470794]|Multiple endocrine neoplasia, type 2 [RCV000528285]|not provided [RCV000679742] Chr10:43126594 [GRCh38]
Chr10:43622042 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1668C>G (p.Ser556=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568831]|Hirschsprung disease, susceptibility to, 1 [RCV002487136]|Multiple endocrine neoplasia, type 2 [RCV000654609]|not specified [RCV000247325] Chr10:43112872 [GRCh38]
Chr10:43608320 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.236G>A (p.Arg79Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015313]|Hirschsprung disease, susceptibility to, 1 [RCV002483498]|Multiple endocrine neoplasia, type 2 [RCV000528844] Chr10:43100621 [GRCh38]
Chr10:43596069 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2284+47C>T single nucleotide variant Multiple endocrine neoplasia, type 2b [RCV003316445]|not provided [RCV001689905]|not specified [RCV000247832] Chr10:43116778 [GRCh38]
Chr10:43612226 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.1029C>T (p.Asn343=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002379086]|Multiple endocrine neoplasia, type 2 [RCV000654602]|not provided [RCV001531057]|not specified [RCV000250278] Chr10:43106537 [GRCh38]
Chr10:43601985 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1908G>A (p.Thr636=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572452]|Multiple endocrine neoplasia, type 2 [RCV000654622]|Multiple endocrine neoplasia, type 2b [RCV003316444]|not specified [RCV000252880] Chr10:43114508 [GRCh38]
Chr10:43609956 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.867+48A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001520524]|Multiple endocrine neoplasia, type 2a [RCV000662666]|Multiple endocrine neoplasia, type 2b [RCV001795464]|Pheochromocytoma [RCV001795463]|not specified [RCV000250629] Chr10:43105241 [GRCh38]
Chr10:43600689 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.199C>T (p.Arg67Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013993]|Hirschsprung disease, susceptibility to, 1 [RCV002491104]|Hirschsprung disease, susceptibility to, 1 [RCV003459264]|Multiple endocrine neoplasia, type 2 [RCV000530005] Chr10:43100584 [GRCh38]
Chr10:43596032 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2607+24C>T single nucleotide variant not specified [RCV000248289] Chr10:43119769 [GRCh38]
Chr10:43615217 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.*1870C>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000271290]|Multiple endocrine neoplasia [RCV000267080]|Pheochromocytoma [RCV000376881]|Renal hypodysplasia/aplasia 1 [RCV000322214] Chr10:43130139 [GRCh38]
Chr10:43625587 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.2876G>A (p.Arg959Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568661]|Hirschsprung disease, susceptibility to, 1 [RCV000268422]|Hirschsprung disease, susceptibility to, 1 [RCV002494937]|Multiple endocrine neoplasia [RCV000406955]|Multiple endocrine neoplasia, type 2 [RCV000654551]|Pheochromocytoma [RCV000358250]|Renal hypodysplasia/aplasia 1 [RCV000303500]|not provided [RCV003165811] Chr10:43123745 [GRCh38]
Chr10:43619193 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1489G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000302417]|Multiple endocrine neoplasia [RCV000400648]|Pheochromocytoma [RCV000305790]|Renal hypodysplasia/aplasia 1 [RCV000360640] Chr10:43129758 [GRCh38]
Chr10:43625206 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*368G>T single nucleotide variant Hirschsprung Disease, Dominant [RCV000390066]|Multiple endocrine neoplasia [RCV000269418]|Pheochromocytoma [RCV000369487]|Renal hypodysplasia/aplasia 1 [RCV000312483] Chr10:43128637 [GRCh38]
Chr10:43624085 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1591G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000286208]|Multiple endocrine neoplasia [RCV000341099]|Pheochromocytoma [RCV000393344]|Renal hypodysplasia/aplasia 1 [RCV000393339]|not provided [RCV001778889] Chr10:43129860 [GRCh38]
Chr10:43625308 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.2070C>T (p.Ser690=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574739]|Hirschsprung disease, susceptibility to, 1 [RCV000325905]|Multiple endocrine neoplasia [RCV000333157]|Multiple endocrine neoplasia, type 2 [RCV000542961]|Multiple endocrine neoplasia, type 2a [RCV000662709]|Pheochromocytoma [RCV000387715]|Renal hypodysplasia/aplasia 1 [RCV000270886] Chr10:43114670 [GRCh38]
Chr10:43610118 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.220G>A (p.Gly74Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014798]|Hirschsprung disease, susceptibility to, 1 [RCV000323687]|Multiple endocrine neoplasia [RCV000270926]|Multiple endocrine neoplasia, type 2 [RCV000551141]|Ovarian cancer [RCV003153553]|Pheochromocytoma [RCV000329067]|Renal hypodysplasia/aplasia 1 [RCV000363157] Chr10:43100605 [GRCh38]
Chr10:43596053 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.*1506G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000362237]|Multiple endocrine neoplasia [RCV000326221]|Pheochromocytoma [RCV000366478]|Renal hypodysplasia/aplasia 1 [RCV000271216]|not provided [RCV001618518] Chr10:43129775 [GRCh38]
Chr10:43625223 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.*388G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000308196]|Multiple endocrine neoplasia [RCV000321083]|Pheochromocytoma [RCV000365222]|Renal hypodysplasia/aplasia 1 [RCV000272787] Chr10:43128657 [GRCh38]
Chr10:43624105 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.2467G>A (p.Gly823Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015632]|Hirschsprung Disease, Dominant [RCV000362457]|Multiple endocrine neoplasia [RCV000393505]|Multiple endocrine neoplasia, type 2 [RCV002520586]|Pheochromocytoma [RCV000307731]|Renal hypodysplasia/aplasia 1 [RCV000272691] Chr10:43119605 [GRCh38]
Chr10:43615053 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1742G>A single nucleotide variant Hirschsprung Disease, Dominant [RCV000396957]|Multiple endocrine neoplasia [RCV000383450]|Pheochromocytoma [RCV000289145]|Renal hypodysplasia/aplasia 1 [RCV000344157] Chr10:43130011 [GRCh38]
Chr10:43625459 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.*1599G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000310427]|Multiple endocrine neoplasia [RCV000307007]|Pheochromocytoma [RCV000364996]|Renal hypodysplasia/aplasia 1 [RCV000390291] Chr10:43129868 [GRCh38]
Chr10:43625316 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.*1130A>G single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000345577]|Multiple endocrine neoplasia [RCV000339613]|Pheochromocytoma [RCV000384769]|Renal hypodysplasia/aplasia 1 [RCV000290403]|not provided [RCV003311742] Chr10:43129399 [GRCh38]
Chr10:43624847 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.1523-7C>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000407084]|Hirschsprung disease, susceptibility to, 1 [RCV002504056]|Multiple endocrine neoplasia [RCV000309086]|Multiple endocrine neoplasia, type 2 [RCV000871046]|Pheochromocytoma [RCV000362668]|RET-related condition [RCV003930264]|Renal hypodysplasia/aplasia 1 [RCV000358721] Chr10:43112092 [GRCh38]
Chr10:43607540 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.1420C>T (p.Arg474Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392835]|Hirschsprung Disease, Dominant [RCV000352045]|Hirschsprung disease, susceptibility to, 1 [RCV003469251]|Multiple endocrine neoplasia [RCV000390089]|Multiple endocrine neoplasia, type 2 [RCV001239526]|Pheochromocytoma [RCV000292520]|RET-related condition [RCV003409465]|Renal hypodysplasia/aplasia 1 [RCV000402202]|not provided [RCV001840481] Chr10:43111363 [GRCh38]
Chr10:43606811 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.*1116T>C single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000284603]|Multiple endocrine neoplasia [RCV000260152]|Pheochromocytoma [RCV000324757]|Renal hypodysplasia/aplasia 1 [RCV000379318]|not provided [RCV001653477] Chr10:43129385 [GRCh38]
Chr10:43624833 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.1618A>G (p.Arg540Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573672]|Hirschsprung disease, susceptibility to, 1 [RCV000359923]|Hirschsprung disease, susceptibility to, 1 [RCV002480091]|Microcephaly [RCV001252827]|Multiple endocrine neoplasia [RCV000263988]|Multiple endocrine neoplasia, type 2 [RCV000697839]|Ovarian cancer [RCV003153554]|Pheochromocytoma [RCV000260802]|Renal hypodysplasia/aplasia 1 [RCV000305137] Chr10:43112194 [GRCh38]
Chr10:43607642 [GRCh37]
Chr10:10q11.21
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.*1644G>C single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000276517]|Multiple endocrine neoplasia [RCV000370937]|Pheochromocytoma [RCV000356657]|Renal hypodysplasia/aplasia 1 [RCV000331623] Chr10:43129913 [GRCh38]
Chr10:43625361 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.*95C>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000368704]|Multiple endocrine neoplasia [RCV000276472]|Pheochromocytoma [RCV000311724]|Renal hypodysplasia/aplasia 1 [RCV000333449] Chr10:43128364 [GRCh38]
Chr10:43623812 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.*1558A>C single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000331932]|Multiple endocrine neoplasia [RCV000293204]|Pheochromocytoma [RCV000276991]|Renal hypodysplasia/aplasia 1 [RCV000386482] Chr10:43129827 [GRCh38]
Chr10:43625275 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.1162G>A (p.Val388Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321978]|Hirschsprung disease, susceptibility to, 1 [RCV000312196]|Multiple endocrine neoplasia [RCV000370252]|Multiple endocrine neoplasia, type 2 [RCV000654549]|Pheochromocytoma [RCV000313283]|Renal hypodysplasia/aplasia 1 [RCV000393718]|not provided [RCV003480586] Chr10:43109129 [GRCh38]
Chr10:43604577 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.337+12G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255357]|Hirschsprung Disease, Dominant [RCV000351814]|Multiple endocrine neoplasia [RCV000346124]|Multiple endocrine neoplasia, type 2 [RCV002059550]|Multiple endocrine neoplasia, type 2a [RCV000411730]|Multiple endocrine neoplasia, type 2b [RCV000410692]|Pheochromocytoma [RCV000312273]|Renal hypodysplasia/aplasia 1 [RCV000390153]|not provided [RCV003417968]|not specified [RCV000605249] Chr10:43100734 [GRCh38]
Chr10:43596182 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity
NM_020975.6(RET):c.1879+14G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000345576]|Multiple endocrine neoplasia [RCV000381315]|Multiple endocrine neoplasia, type 2 [RCV001850584]|Multiple endocrine neoplasia, type 2a [RCV000662734]|Pheochromocytoma [RCV000295350]|Renal hypodysplasia/aplasia 1 [RCV000389662] Chr10:43113689 [GRCh38]
Chr10:43609137 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.*84G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000408384]|Multiple endocrine neoplasia [RCV000356032]|Pheochromocytoma [RCV000298834]|Renal hypodysplasia/aplasia 1 [RCV000263605] Chr10:43128353 [GRCh38]
Chr10:43623801 [GRCh37]
Chr10:10q11.21
pathogenic|likely benign|uncertain significance
NM_020975.6(RET):c.*1583G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000320055]|Multiple endocrine neoplasia [RCV000280354]|Pheochromocytoma [RCV000374827]|Renal hypodysplasia/aplasia 1 [RCV000335170] Chr10:43129852 [GRCh38]
Chr10:43625300 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.*1212C>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000399183]|Multiple endocrine neoplasia [RCV000396896]|Pheochromocytoma [RCV000315236]|Renal hypodysplasia/aplasia 1 [RCV000351376] Chr10:43129481 [GRCh38]
Chr10:43624929 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1348G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000336056]|Multiple endocrine neoplasia [RCV000395362]|Pheochromocytoma [RCV000280995]|Renal hypodysplasia/aplasia 1 [RCV000399812] Chr10:43129617 [GRCh38]
Chr10:43625065 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.432C>T (p.Arg144=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571664]|Hirschsprung disease, susceptibility to, 1 [RCV000305840]|Multiple endocrine neoplasia [RCV000318616]|Multiple endocrine neoplasia, type 2 [RCV000537322]|Pheochromocytoma [RCV000358174]|Renal hypodysplasia/aplasia 1 [RCV000265740] Chr10:43102436 [GRCh38]
Chr10:43597884 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2050C>T (p.Pro684Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418152]|Hirschsprung disease, susceptibility to, 1 [RCV000391239]|Multiple endocrine neoplasia [RCV000353999]|Multiple endocrine neoplasia, type 2 [RCV001069295]|Pheochromocytoma [RCV000298948]|Renal hypodysplasia/aplasia 1 [RCV000343375]|not provided [RCV003320629] Chr10:43114650 [GRCh38]
Chr10:43610098 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*576G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000346203]|Multiple endocrine neoplasia [RCV000395374]|Pheochromocytoma [RCV000340524]|Renal hypodysplasia/aplasia 1 [RCV000283152] Chr10:43128845 [GRCh38]
Chr10:43624293 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.*330A>G single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000286851]|Multiple endocrine neoplasia [RCV000378919]|Pheochromocytoma [RCV000283226]|Renal hypodysplasia/aplasia 1 [RCV000340605] Chr10:43128599 [GRCh38]
Chr10:43624047 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.*175C>G single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000381115]|Multiple endocrine neoplasia [RCV000384628]|Pheochromocytoma [RCV000270264]|Renal hypodysplasia/aplasia 1 [RCV000327627] Chr10:43128444 [GRCh38]
Chr10:43623892 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.890dup (p.Val298fs) duplication not provided [RCV000282821] Chr10:43106397..43106398 [GRCh38]
Chr10:43601845..43601846 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.596A>G (p.Asn199Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356413]|Hirschsprung disease, susceptibility to, 1 [RCV000389327]|Multiple endocrine neoplasia [RCV000375547]|Multiple endocrine neoplasia, type 2 [RCV001297828]|Pheochromocytoma [RCV000260835]|Renal hypodysplasia/aplasia 1 [RCV000332410] Chr10:43102600 [GRCh38]
Chr10:43598048 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1659T>C single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000347551]|Multiple endocrine neoplasia [RCV000377190]|Pheochromocytoma [RCV000282802]|Renal hypodysplasia/aplasia 1 [RCV000322689] Chr10:43129928 [GRCh38]
Chr10:43625376 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1797T>G single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000261095]|Multiple endocrine neoplasia [RCV000361705]|Pheochromocytoma [RCV000355872]|Renal hypodysplasia/aplasia 1 [RCV000297500] Chr10:43130066 [GRCh38]
Chr10:43625514 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.276C>T (p.Thr92=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436103]|Multiple endocrine neoplasia, type 2 [RCV001460357]|not provided [RCV000279485] Chr10:43100661 [GRCh38]
Chr10:43596109 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.*1233T>C single nucleotide variant Hirschsprung Disease, Dominant [RCV000298137]|Multiple endocrine neoplasia [RCV000311238]|Pheochromocytoma [RCV000261730]|Renal hypodysplasia/aplasia 1 [RCV000356720] Chr10:43129502 [GRCh38]
Chr10:43624950 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1646T>G single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000261803]|Multiple endocrine neoplasia [RCV000371557]|Pheochromocytoma [RCV000267584]|Renal hypodysplasia/aplasia 1 [RCV000316975] Chr10:43129915 [GRCh38]
Chr10:43625363 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*538G>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000354821]|Multiple endocrine neoplasia [RCV000319656]|Pheochromocytoma [RCV000386112]|Renal hypodysplasia/aplasia 1 [RCV000262215] Chr10:43128807 [GRCh38]
Chr10:43624255 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*749dup duplication Hirschsprung Disease, Dominant [RCV000299755]|Multiple endocrine neoplasia [RCV000331119]|Pheochromocytoma [RCV000273880]|Renal hypodysplasia/aplasia 1 [RCV000356820] Chr10:43129013..43129014 [GRCh38]
Chr10:43624461..43624462 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1119G>A (p.Ala373=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566877]|Hirschsprung disease, susceptibility to, 1 [RCV001104292]|Multiple endocrine neoplasia [RCV001104290]|Multiple endocrine neoplasia, type 2 [RCV001084015]|Multiple endocrine neoplasia, type 2b [RCV003316464]|Pheochromocytoma [RCV001104293]|Renal hypodysplasia/aplasia 1 [RCV001104291]|not provided [RCV000679710]|not specified [RCV000282321] Chr10:43109086 [GRCh38]
Chr10:43604534 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.*1109T>C single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000319027]|Multiple endocrine neoplasia [RCV000263902]|Pheochromocytoma [RCV000367893]|Renal hypodysplasia/aplasia 1 [RCV000373474] Chr10:43129378 [GRCh38]
Chr10:43624826 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1337A>T single nucleotide variant Hirschsprung Disease, Dominant [RCV000328952]|Multiple endocrine neoplasia [RCV000383496]|Pheochromocytoma [RCV000264397]|Renal hypodysplasia/aplasia 1 [RCV000288888] Chr10:43129606 [GRCh38]
Chr10:43625054 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1103C>T single nucleotide variant Hirschsprung Disease, Dominant [RCV000276919]|Multiple endocrine neoplasia [RCV000362150]|Pheochromocytoma [RCV000307482]|Renal hypodysplasia/aplasia 1 [RCV000313199] Chr10:43129372 [GRCh38]
Chr10:43624820 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*763C>T single nucleotide variant Hirschsprung Disease, Dominant [RCV000369398]|Multiple endocrine neoplasia [RCV000325309]|Pheochromocytoma [RCV000382566]|Renal hypodysplasia/aplasia 1 [RCV000277277] Chr10:43129032 [GRCh38]
Chr10:43624480 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*446A>G single nucleotide variant Hirschsprung Disease, Dominant [RCV000378016]|Multiple endocrine neoplasia [RCV000267044]|Pheochromocytoma [RCV000372391]|Renal hypodysplasia/aplasia 1 [RCV000324570] Chr10:43128715 [GRCh38]
Chr10:43624163 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1278del deletion Hirschsprung Disease, Dominant [RCV000322629]|Multiple endocrine neoplasia [RCV000377713]|Pheochromocytoma [RCV000267509]|Renal hypodysplasia/aplasia 1 [RCV000352985] Chr10:43129543 [GRCh38]
Chr10:43624991 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*935C>A single nucleotide variant Hirschsprung Disease, Dominant [RCV000380262]|Multiple endocrine neoplasia [RCV000336369]|Pheochromocytoma [RCV000342111]|Renal hypodysplasia/aplasia 1 [RCV000278865] Chr10:43129204 [GRCh38]
Chr10:43624652 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2580G>A (p.Gln860=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429252]|Hirschsprung Disease, Dominant [RCV000279714]|Multiple endocrine neoplasia [RCV000316068]|Multiple endocrine neoplasia, type 2 [RCV001428203]|Pheochromocytoma [RCV000375295]|Renal hypodysplasia/aplasia 1 [RCV000378390] Chr10:43119718 [GRCh38]
Chr10:43615166 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.*509A>G single nucleotide variant Hirschsprung Disease, Dominant [RCV000268470]|Multiple endocrine neoplasia [RCV000316349]|Pheochromocytoma [RCV000360823]|Renal hypodysplasia/aplasia 1 [RCV000303593] Chr10:43128778 [GRCh38]
Chr10:43624226 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*453G>T single nucleotide variant Hirschsprung Disease, Dominant [RCV000280125]|Multiple endocrine neoplasia [RCV000375834]|Pheochromocytoma [RCV000293193]|Renal hypodysplasia/aplasia 1 [RCV000337622] Chr10:43128722 [GRCh38]
Chr10:43624170 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2378C>T (p.Ala793Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456264]|Multiple endocrine neoplasia, type 2 [RCV000554041] Chr10:43118466 [GRCh38]
Chr10:43613914 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1378G>T (p.Asp460Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383940]|not provided [RCV000489253] Chr10:43111321 [GRCh38]
Chr10:43606769 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.464C>A (p.Pro155Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568122]|Hirschsprung disease, susceptibility to, 1 [RCV003459265]|Multiple endocrine neoplasia, type 2 [RCV000547644] Chr10:43102468 [GRCh38]
Chr10:43597916 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1088C>G (p.Ser363Cys) single nucleotide variant not provided [RCV003239239] Chr10:43109055 [GRCh38]
Chr10:43604503 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.920C>T (p.Ser307Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569302]|Hirschsprung disease, susceptibility to, 1 [RCV003459400]|Multiple endocrine neoplasia, type 2 [RCV001050297] Chr10:43106428 [GRCh38]
Chr10:43601876 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1566C>T (p.Ser522=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012164]|Multiple endocrine neoplasia, type 2 [RCV000554444] Chr10:43112142 [GRCh38]
Chr10:43607590 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.440_442del (p.Phe147del) deletion not provided [RCV001269931] Chr10:43102442..43102444 [GRCh38]
Chr10:43597890..43597892 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.544C>A (p.Pro182Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003302930]|Multiple endocrine neoplasia, type 2 [RCV003117374]|not provided [RCV003128637]|not specified [RCV000602692] Chr10:43102548 [GRCh38]
Chr10:43597996 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*600delinsTT indel Hirschsprung Disease, Dominant [RCV000305093]|Multiple endocrine neoplasia [RCV000352892]|Pheochromocytoma [RCV000398518]|Renal hypodysplasia/aplasia 1 [RCV000399835] Chr10:43128869 [GRCh38]
Chr10:43624317 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.-158G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000285183]|Multiple endocrine neoplasia [RCV000342597]|Pheochromocytoma [RCV000284131]|Renal hypodysplasia/aplasia 1 [RCV000400846] Chr10:43077101 [GRCh38]
Chr10:43572549 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1345G>T single nucleotide variant Hirschsprung Disease, Dominant [RCV000348963]|Multiple endocrine neoplasia [RCV000325233]|Pheochromocytoma [RCV000294961]|Renal hypodysplasia/aplasia 1 [RCV000389194] Chr10:43129614 [GRCh38]
Chr10:43625062 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*824G>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000376622]|Multiple endocrine neoplasia [RCV000290443]|Pheochromocytoma [RCV000284745]|Renal hypodysplasia/aplasia 1 [RCV000329039] Chr10:43129093 [GRCh38]
Chr10:43624541 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*499dup duplication Hirschsprung Disease, Dominant [RCV000295662]|Multiple endocrine neoplasia [RCV000344726]|Pheochromocytoma [RCV000397284]|Renal hypodysplasia/aplasia 1 [RCV000350514] Chr10:43128760..43128761 [GRCh38]
Chr10:43624208..43624209 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2847A>G (p.Gly949=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436139]|Hirschsprung Disease, Dominant [RCV000351301]|Multiple endocrine neoplasia [RCV000307108]|Multiple endocrine neoplasia, type 2 [RCV001453964]|Multiple endocrine neoplasia, type 2a [RCV000988349]|Pheochromocytoma [RCV000366161]|Renal hypodysplasia/aplasia 1 [RCV000399319] Chr10:43123716 [GRCh38]
Chr10:43619164 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.625G>A (p.Gly209Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000529908] Chr10:43102629 [GRCh38]
Chr10:43598077 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*506G>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000406930]|Multiple endocrine neoplasia [RCV000400228]|Pheochromocytoma [RCV000366669]|Renal hypodysplasia/aplasia 1 [RCV000309584] Chr10:43128775 [GRCh38]
Chr10:43624223 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020630.5(RET):c.-200A>G single nucleotide variant Hirschsprung Disease, Dominant [RCV000281211]|Multiple endocrine neoplasia [RCV000265906]|Pheochromocytoma [RCV000375701]|Renal hypodysplasia/aplasia 1 [RCV000320981]|not provided [RCV001692084] Chr10:43077059 [GRCh38]
Chr10:43572507 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.1109T>A (p.Met370Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298361]|Hirschsprung disease, susceptibility to, 1 [RCV000339810]|Multiple endocrine neoplasia [RCV000287203]|Multiple endocrine neoplasia, type 2 [RCV000692332]|Pheochromocytoma [RCV000327108]|Renal hypodysplasia/aplasia 1 [RCV000379414] Chr10:43109076 [GRCh38]
Chr10:43604524 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.-132G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256191]|Hirschsprung disease, susceptibility to, 1 [RCV000393831]|Multiple endocrine neoplasia [RCV000298833]|Pheochromocytoma [RCV000336868]|Renal hypodysplasia/aplasia 1 [RCV000369892] Chr10:43077127 [GRCh38]
Chr10:43572575 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.30G>A (p.Gly10=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018644]|Multiple endocrine neoplasia, type 2 [RCV000553487] Chr10:43077288 [GRCh38]
Chr10:43572736 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3156C>T (p.Leu1052=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018844]|Hirschsprung disease, susceptibility to, 1 [RCV002491105]|Multiple endocrine neoplasia, type 2 [RCV000553704] Chr10:43126691 [GRCh38]
Chr10:43622139 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.*553G>T single nucleotide variant Hirschsprung Disease, Dominant [RCV000332648]|Multiple endocrine neoplasia [RCV000294156]|Pheochromocytoma [RCV000288950]|Renal hypodysplasia/aplasia 1 [RCV000389582] Chr10:43128822 [GRCh38]
Chr10:43624270 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*358G>T single nucleotide variant Hirschsprung Disease, Dominant [RCV000400079]|Multiple endocrine neoplasia [RCV000334795]|Pheochromocytoma [RCV000338153]|Renal hypodysplasia/aplasia 1 [RCV000299661] Chr10:43128627 [GRCh38]
Chr10:43624075 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1797T>C single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000313773]|Multiple endocrine neoplasia [RCV000349898]|Pheochromocytoma [RCV000301023]|Renal hypodysplasia/aplasia 1 [RCV000390500] Chr10:43130066 [GRCh38]
Chr10:43625514 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1020G>T single nucleotide variant Hirschsprung Disease, Dominant [RCV000349233]|Multiple endocrine neoplasia [RCV000390198]|Pheochromocytoma [RCV000390469]|Renal hypodysplasia/aplasia 1 [RCV000301310] Chr10:43129289 [GRCh38]
Chr10:43624737 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.5(RET):c.-196C>A single nucleotide variant Hirschsprung Disease, Dominant [RCV000317662]|Multiple endocrine neoplasia [RCV000295854]|Pheochromocytoma [RCV000372338]|Renal hypodysplasia/aplasia 1 [RCV000350719]|not provided [RCV000836537] Chr10:43077063 [GRCh38]
Chr10:43572511 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.342C>T (p.Arg114=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341479]|Multiple endocrine neoplasia, type 2 [RCV000548604]|not specified [RCV002469200] Chr10:43102346 [GRCh38]
Chr10:43597794 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.-187C>A single nucleotide variant Hirschsprung Disease, Dominant [RCV000325032]|Multiple endocrine neoplasia [RCV000291019]|Pheochromocytoma [RCV000381849]|Renal hypodysplasia/aplasia 1 [RCV000383449] Chr10:43077072 [GRCh38]
Chr10:43572520 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1425dup (p.Pro476fs) duplication Inborn genetic diseases [RCV000622499] Chr10:43111366..43111367 [GRCh38]
Chr10:43606814..43606815 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.-37G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000526991]|not provided [RCV002225663] Chr10:43077222 [GRCh38]
Chr10:43572670 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.741C>T (p.Ala247=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565936]|Multiple endocrine neoplasia, type 2 [RCV001462174] Chr10:43105067 [GRCh38]
Chr10:43600515 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3126C>G (p.Asp1042Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325101]|Multiple endocrine neoplasia, type 2 [RCV000531913] Chr10:43126661 [GRCh38]
Chr10:43622109 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3184T>A (p.Tyr1062Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569046]|Multiple endocrine neoplasia, type 2 [RCV001361483] Chr10:43126719 [GRCh38]
Chr10:43622167 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.686T>C (p.Leu229Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003302888]|Multiple endocrine neoplasia, type 2 [RCV000555096] Chr10:43105012 [GRCh38]
Chr10:43600460 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1567A>C (p.Lys523Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012166]|Hirschsprung disease, susceptibility to, 1 [RCV003470791]|Multiple endocrine neoplasia, type 2 [RCV000533025]|Multiple endocrine neoplasia, type 2a [RCV000709115] Chr10:43112143 [GRCh38]
Chr10:43607591 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.758T>A (p.Val253Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567338] Chr10:43105084 [GRCh38]
Chr10:43600532 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.777G>A (p.Pro259=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568910]|Multiple endocrine neoplasia, type 2 [RCV000654582]|not specified [RCV001584392] Chr10:43105103 [GRCh38]
Chr10:43600551 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1771G>A (p.Val591Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573728]|Multiple endocrine neoplasia, type 2 [RCV000809432]|not provided [RCV003117341] Chr10:43113567 [GRCh38]
Chr10:43609015 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2110G>T (p.Val704Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571517]|Hirschsprung disease, susceptibility to, 1 [RCV002480262]|Hirschsprung disease, susceptibility to, 1 [RCV003463814]|Multiple endocrine neoplasia, type 2 [RCV000690291]|Multiple endocrine neoplasia, type 2a [RCV000409974]|Multiple endocrine neoplasia, type 2b [RCV000412382] Chr10:43114710 [GRCh38]
Chr10:43610158 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2393-14C>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001108068]|Multiple endocrine neoplasia [RCV001108069]|Multiple endocrine neoplasia, type 2 [RCV002058857]|Multiple endocrine neoplasia, type 2a [RCV000411041]|Multiple endocrine neoplasia, type 2b [RCV000409467]|Pheochromocytoma [RCV001102853]|Renal hypodysplasia/aplasia 1 [RCV001102854]|not specified [RCV001002253] Chr10:43119517 [GRCh38]
Chr10:43614965 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.2136+15G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002058862]|Multiple endocrine neoplasia, type 2a [RCV000409522]|Multiple endocrine neoplasia, type 2b [RCV000411923]|not provided [RCV000679728] Chr10:43114751 [GRCh38]
Chr10:43610199 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.73+9278G>A single nucleotide variant Multiple endocrine neoplasia, type 2a [RCV000410768]|Multiple endocrine neoplasia, type 2b [RCV000409618] Chr10:43086609 [GRCh38]
Chr10:43582057 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.337+29G>A single nucleotide variant Multiple endocrine neoplasia, type 2a [RCV000409650]|Multiple endocrine neoplasia, type 2b [RCV000411638] Chr10:43100751 [GRCh38]
Chr10:43596199 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1879+13C>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001107888]|Multiple endocrine neoplasia [RCV001107249]|Multiple endocrine neoplasia, type 2 [RCV002058859]|Multiple endocrine neoplasia, type 2a [RCV000410376]|Multiple endocrine neoplasia, type 2b [RCV000409694]|Pheochromocytoma [RCV001107887]|RET-related condition [RCV003932530]|Renal hypodysplasia/aplasia 1 [RCV001107248] Chr10:43113688 [GRCh38]
Chr10:43609136 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.1879+17C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002058858]|Multiple endocrine neoplasia, type 2a [RCV000410729]|Multiple endocrine neoplasia, type 2b [RCV000409720] Chr10:43113692 [GRCh38]
Chr10:43609140 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.337+34C>T single nucleotide variant Multiple endocrine neoplasia, type 2a [RCV000409765]|Multiple endocrine neoplasia, type 2b [RCV000411748] Chr10:43100756 [GRCh38]
Chr10:43596204 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1187C>T (p.Ser396Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574133]|Hirschsprung disease, susceptibility to, 1 [RCV003463813]|Multiple endocrine neoplasia, type 2 [RCV000689688]|Multiple endocrine neoplasia, type 2a [RCV000411297]|Multiple endocrine neoplasia, type 2b [RCV000410233]|not specified [RCV000507135] Chr10:43109154 [GRCh38]
Chr10:43604602 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3040-11C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002524632]|Multiple endocrine neoplasia, type 2a [RCV000410218]|Multiple endocrine neoplasia, type 2b [RCV000412117] Chr10:43126564 [GRCh38]
Chr10:43622012 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2648C>A (p.Ala883Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003353017]|not provided [RCV000757723] Chr10:43120121 [GRCh38]
Chr10:43615569 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3167G>A (p.Trp1056Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570468]|Multiple endocrine neoplasia, type 2 [RCV001853797] Chr10:43126702 [GRCh38]
Chr10:43622150 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.394C>A (p.Leu132Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573093]|Multiple endocrine neoplasia, type 2 [RCV001342323] Chr10:43102398 [GRCh38]
Chr10:43597846 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.134C>A (p.Ala45Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573335]|Multiple endocrine neoplasia, type 2 [RCV001062045] Chr10:43100519 [GRCh38]
Chr10:43595967 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1648+24G>A single nucleotide variant Multiple endocrine neoplasia, type 2a [RCV000412231]|Multiple endocrine neoplasia, type 2b [RCV000411147] Chr10:43112248 [GRCh38]
Chr10:43607696 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3028G>T (p.Val1010Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003159940]|Multiple endocrine neoplasia, type 2 [RCV000539495] Chr10:43124971 [GRCh38]
Chr10:43620419 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2392+6G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000541616] Chr10:43118486 [GRCh38]
Chr10:43613934 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2268C>T (p.Ala756=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014985]|Hirschsprung disease, susceptibility to, 1 [RCV002476200]|Multiple endocrine neoplasia, type 2 [RCV000535319]|not provided [RCV002060368] Chr10:43116715 [GRCh38]
Chr10:43612163 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.2886C>T (p.Asn962=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016856]|Multiple endocrine neoplasia, type 2 [RCV000537835] Chr10:43123755 [GRCh38]
Chr10:43619203 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2403C>T (p.Leu801=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572478]|Hirschsprung disease, susceptibility to, 1 [RCV001102856]|Multiple endocrine neoplasia [RCV001102857]|Multiple endocrine neoplasia, type 2 [RCV000869947]|Pheochromocytoma [RCV001102858]|Renal hypodysplasia/aplasia 1 [RCV001102855] Chr10:43119541 [GRCh38]
Chr10:43614989 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1312G>A (p.Val438Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003302887]|Hirschsprung disease, susceptibility to, 1 [RCV002483496]|Multiple endocrine neoplasia, type 2 [RCV000540480]|Multiple endocrine neoplasia, type 2a [RCV000663209]|RET-related condition [RCV003403341] Chr10:43111255 [GRCh38]
Chr10:43606703 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1295_1296inv (p.Ala432Val) inversion Hereditary cancer-predisposing syndrome [RCV002384265]|Multiple endocrine neoplasia, type 2 [RCV000538127]|RET-related condition [RCV003403340]|not provided [RCV003231531] Chr10:43111238..43111239 [GRCh38]
Chr10:43606686..43606687 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2607+5G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016044]|Multiple endocrine neoplasia, type 2 [RCV001244630]|Multiple endocrine neoplasia, type 2a [RCV000663278]|not provided [RCV000413101]|not specified [RCV002469143] Chr10:43119750 [GRCh38]
Chr10:43615198 [GRCh37]
Chr10:10q11.21
likely pathogenic|uncertain significance
NM_020975.6(RET):c.444C>G (p.Ser148=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572917]|Multiple endocrine neoplasia, type 2 [RCV000964772] Chr10:43102448 [GRCh38]
Chr10:43597896 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3143del (p.Leu1048fs) deletion Aganglionic megacolon [RCV000736280] Chr10:43126678 [GRCh38]
Chr10:43622126 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.361G>A (p.Val121Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563413]|Multiple endocrine neoplasia, type 2 [RCV001062267]|not specified [RCV000413174] Chr10:43102365 [GRCh38]
Chr10:43597813 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2254T>C (p.Tyr752His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574440]|Multiple endocrine neoplasia, type 2 [RCV000815850]|not provided [RCV001755961] Chr10:43116701 [GRCh38]
Chr10:43612149 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1866C>T (p.Pro622=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574500]|Multiple endocrine neoplasia, type 2 [RCV000654634]|Multiple endocrine neoplasia, type 2b [RCV003316746] Chr10:43113662 [GRCh38]
Chr10:43609110 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1756C>T (p.Leu586Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413647]|Hirschsprung disease, susceptibility to, 1 [RCV003470792]|Multiple endocrine neoplasia, type 2 [RCV000547048] Chr10:43112960 [GRCh38]
Chr10:43608408 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1958C>G (p.Ser653Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420536]|Multiple endocrine neoplasia, type 2 [RCV000541231] Chr10:43114558 [GRCh38]
Chr10:43610006 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
GRCh37/hg19 10q11.21(chr10:43600657-43600691)x3 copy number gain See cases [RCV000447667] Chr10:43600657..43600691 [GRCh37]
Chr10:10q11.21
benign
GRCh37/hg19 10q11.21(chr10:43600625-43600691)x3 copy number gain See cases [RCV000446438] Chr10:43600625..43600691 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2939+20G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002065064]|not specified [RCV000431301] Chr10:43123828 [GRCh38]
Chr10:43619276 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+9201C>T single nucleotide variant not specified [RCV000431506] Chr10:43086532 [GRCh38]
Chr10:43581980 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.1903C>T (p.Arg635Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013629]|Hirschsprung disease, susceptibility to, 1 [RCV003459263]|Multiple endocrine neoplasia, type 2 [RCV000531061] Chr10:43114503 [GRCh38]
Chr10:43609951 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1894_1899del (p.Glu632_Leu633del) deletion Medullary thyroid carcinoma [RCV000438390]|Multiple endocrine neoplasia, type 2 [RCV001228445] Chr10:43114494..43114499 [GRCh38]
Chr10:43609942..43609947 [GRCh37]
Chr10:10q11.21
likely pathogenic|uncertain significance
NM_020975.6(RET):c.523C>T (p.Arg175Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023784]|Multiple endocrine neoplasia, type 2 [RCV000461265]|not provided [RCV000425402] Chr10:43102527 [GRCh38]
Chr10:43597975 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3040-20C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002059891]|not provided [RCV000679740]|not specified [RCV000429057] Chr10:43126555 [GRCh38]
Chr10:43622003 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.937C>T (p.Arg313Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572287]|Multiple endocrine neoplasia, type 2 [RCV001053927]|not provided [RCV000766922]|not specified [RCV000432509] Chr10:43106445 [GRCh38]
Chr10:43601893 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2694_2705del (p.Asp898_Glu901del) deletion Hereditary cancer-predisposing syndrome [RCV002429345]|Medullary thyroid carcinoma [RCV000433213] Chr10:43120164..43120175 [GRCh38]
Chr10:43615612..43615623 [GRCh37]
Chr10:10q11.21
likely pathogenic|uncertain significance
NM_020975.6(RET):c.2358T>C (p.His786=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446707]|Hirschsprung disease, susceptibility to, 1 [RCV002502557]|Multiple endocrine neoplasia, type 2 [RCV000550429]|not specified [RCV000430358] Chr10:43118446 [GRCh38]
Chr10:43613894 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1834_1860del (p.Phe612_Cys620del) deletion Medullary thyroid carcinoma [RCV000420537] Chr10:43113626..43113652 [GRCh38]
Chr10:43609074..43609100 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.1201A>T (p.Ser401Cys) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV000416603]|Hereditary cancer-predisposing syndrome [RCV001010283]|Hirschsprung disease, susceptibility to, 1 [RCV003468970]|Multiple endocrine neoplasia, type 2 [RCV000560396] Chr10:43109168 [GRCh38]
Chr10:43604616 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_020975.6(RET):c.2943C>T (p.Tyr981=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564140]|Multiple endocrine neoplasia, type 2 [RCV000459060]|RET-related condition [RCV003932724] Chr10:43124886 [GRCh38]
Chr10:43620334 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1236G>C (p.Val412=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000462830] Chr10:43109203 [GRCh38]
Chr10:43604651 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1173C>G (p.Leu391=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329097]|Multiple endocrine neoplasia, type 2 [RCV000470158] Chr10:43109140 [GRCh38]
Chr10:43604588 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.650C>A (p.Ala217Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025355]|Hirschsprung disease, susceptibility to, 1 [RCV002502615]|Multiple endocrine neoplasia, type 2 [RCV000470242]|RET-related condition [RCV003418158]|not provided [RCV001570499] Chr10:43104976 [GRCh38]
Chr10:43600424 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3117G>A (p.Pro1039=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018705]|Multiple endocrine neoplasia, type 2 [RCV000470256]|not provided [RCV003478004] Chr10:43126652 [GRCh38]
Chr10:43622100 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1848G>A (p.Glu616=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411530]|Multiple endocrine neoplasia, type 2 [RCV001459054] Chr10:43113644 [GRCh38]
Chr10:43609092 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.59_61dup (p.Pro20_Leu21insPro) duplication Hereditary cancer-predisposing syndrome [RCV002356788]|Multiple endocrine neoplasia, type 2 [RCV000541134]|not provided [RCV000479274] Chr10:43077314..43077315 [GRCh38]
Chr10:43572762..43572763 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1596C>T (p.Gly532=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573968]|Hirschsprung disease, susceptibility to, 1 [RCV002475902]|Multiple endocrine neoplasia, type 2 [RCV000466732]|not provided [RCV002225623] Chr10:43112172 [GRCh38]
Chr10:43607620 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.270G>A (p.Glu90=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429576]|Multiple endocrine neoplasia, type 2 [RCV000474188] Chr10:43100655 [GRCh38]
Chr10:43596103 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.632G>A (p.Gly211Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003352868]|Multiple endocrine neoplasia, type 2 [RCV000474197] Chr10:43104958 [GRCh38]
Chr10:43600406 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2694T>G (p.Asp898Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000474256] Chr10:43120167 [GRCh38]
Chr10:43615615 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1522+10T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001406863] Chr10:43111475 [GRCh38]
Chr10:43606923 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.79T>C (p.Leu27=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564360]|Hirschsprung disease, susceptibility to, 1 [RCV002489100]|Multiple endocrine neoplasia, type 2 [RCV000463201] Chr10:43100464 [GRCh38]
Chr10:43595912 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.921A>G (p.Ser307=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019010]|Hirschsprung disease, susceptibility to, 1 [RCV002496799]|Multiple endocrine neoplasia, type 2 [RCV000466991] Chr10:43106429 [GRCh38]
Chr10:43601877 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1018G>T (p.Val340Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256246]|Multiple endocrine neoplasia, type 2 [RCV000470605]|Multiple endocrine neoplasia, type 2a [RCV000662822]|not provided [RCV003327399] Chr10:43106526 [GRCh38]
Chr10:43601974 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1907C>T (p.Thr636Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570272]|Multiple endocrine neoplasia, type 2 [RCV000463920]|Multiple endocrine neoplasia, type 2a [RCV000709117]|RET-related condition [RCV003401454]|not provided [RCV001778963] Chr10:43114507 [GRCh38]
Chr10:43609955 [GRCh37]
Chr10:10q11.21
pathogenic|uncertain significance
NM_020975.6(RET):c.3177C>G (p.Asn1059Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323690]|Multiple endocrine neoplasia, type 2 [RCV000467250] Chr10:43126712 [GRCh38]
Chr10:43622160 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.536A>G (p.Asn179Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000459733] Chr10:43102540 [GRCh38]
Chr10:43597988 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2393-8G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000463590] Chr10:43119523 [GRCh38]
Chr10:43614971 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1375G>A (p.Glu459Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011224]|Hirschsprung disease, susceptibility to, 1 [RCV002481389]|Hirschsprung disease, susceptibility to, 1 [RCV003470405]|Multiple endocrine neoplasia, type 2 [RCV000474764] Chr10:43111318 [GRCh38]
Chr10:43606766 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.918A>G (p.Ala306=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446860]|Multiple endocrine neoplasia, type 2 [RCV000474817]|not provided [RCV002227164] Chr10:43106426 [GRCh38]
Chr10:43601874 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.964G>A (p.Asp322Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567653]|Multiple endocrine neoplasia, type 2 [RCV000474821] Chr10:43106472 [GRCh38]
Chr10:43601920 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1165C>T (p.Leu389Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566718]|Hirschsprung disease, susceptibility to, 1 [RCV001107050]|Multiple endocrine neoplasia [RCV001107714]|Multiple endocrine neoplasia, type 2 [RCV000472212]|Pheochromocytoma [RCV001107048]|Renal hypodysplasia/aplasia 1 [RCV001107049] Chr10:43109132 [GRCh38]
Chr10:43604580 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.776C>T (p.Pro259Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411431]|Multiple endocrine neoplasia, type 2 [RCV000459798]|not provided [RCV000731879] Chr10:43105102 [GRCh38]
Chr10:43600550 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2331C>T (p.Asn777=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451156]|Multiple endocrine neoplasia, type 2 [RCV000459804]|not provided [RCV001529312] Chr10:43118419 [GRCh38]
Chr10:43613867 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3188-4T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323771]|Multiple endocrine neoplasia, type 2 [RCV000459895]|not provided [RCV003114597] Chr10:43128108 [GRCh38]
Chr10:43623556 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1701C>T (p.Asp567=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566653]|Multiple endocrine neoplasia, type 2 [RCV001086906]|not provided [RCV000679721]|not specified [RCV000605265] Chr10:43112905 [GRCh38]
Chr10:43608353 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) single nucleotide variant Congenital central hypoventilation [RCV000763648]|Hereditary cancer-predisposing syndrome [RCV000562567]|Multiple endocrine neoplasia, type 2 [RCV000471342]|Multiple endocrine neoplasia, type 2a [RCV000709123]|RET-related condition [RCV003902637]|not provided [RCV000594322] Chr10:43119665 [GRCh38]
Chr10:43615113 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.73+10G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001474565] Chr10:43077341 [GRCh38]
Chr10:43572789 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1464C>T (p.Thr488=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563702]|Multiple endocrine neoplasia, type 2 [RCV000476164]|RET-related condition [RCV003899950]|not specified [RCV000607983] Chr10:43111407 [GRCh38]
Chr10:43606855 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2654G>A (p.Gly885Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451079]|Multiple endocrine neoplasia, type 2 [RCV000476594]|not provided [RCV000520828] Chr10:43120127 [GRCh38]
Chr10:43615575 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3241G>A (p.Asp1081Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323689]|Multiple endocrine neoplasia, type 2 [RCV000456480] Chr10:43128165 [GRCh38]
Chr10:43623613 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.235C>T (p.Arg79Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015286]|Hirschsprung disease, susceptibility to, 1 [RCV001105647]|Multiple endocrine neoplasia [RCV001105646]|Multiple endocrine neoplasia, type 2 [RCV000463969]|Pheochromocytoma [RCV001104288]|Renal hypodysplasia/aplasia 1 [RCV001105645] Chr10:43100620 [GRCh38]
Chr10:43596068 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.1250G>A (p.Arg417His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571049]|Multiple endocrine neoplasia, type 2 [RCV000456803] Chr10:43109217 [GRCh38]
Chr10:43604665 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2932G>A (p.Glu978Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017564]|Hirschsprung disease, susceptibility to, 1 [RCV002506101]|Hirschsprung disease, susceptibility to, 1 [RCV003463859]|Multiple endocrine neoplasia, type 2 [RCV000468043]|not provided [RCV003221984] Chr10:43123801 [GRCh38]
Chr10:43619249 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1354C>A (p.Leu452Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561647]|Multiple endocrine neoplasia, type 2 [RCV001082963]|Multiple endocrine neoplasia, type 2a [RCV000662962]|not provided [RCV000730805] Chr10:43111297 [GRCh38]
Chr10:43606745 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.529C>T (p.Arg177Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568353]|Multiple endocrine neoplasia, type 2 [RCV000475509] Chr10:43102533 [GRCh38]
Chr10:43597981 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2038G>A (p.Ala680Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418359]|Hirschsprung disease, susceptibility to, 1 [RCV003463862]|Multiple endocrine neoplasia, type 2 [RCV000460597] Chr10:43114638 [GRCh38]
Chr10:43610086 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1353G>T (p.Thr451=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011137]|Hirschsprung disease, susceptibility to, 1 [RCV001107135]|Multiple endocrine neoplasia [RCV001107136]|Multiple endocrine neoplasia, type 2 [RCV000468172]|Pheochromocytoma [RCV001107137]|Renal hypodysplasia/aplasia 1 [RCV001107134] Chr10:43111296 [GRCh38]
Chr10:43606744 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.2862G>A (p.Gly954=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436480]|Multiple endocrine neoplasia, type 2 [RCV001426036] Chr10:43123731 [GRCh38]
Chr10:43619179 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1878G>A (p.Gln626=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013505]|Multiple endocrine neoplasia, type 2 [RCV000468334]|Multiple endocrine neoplasia, type 2a [RCV000662530] Chr10:43113674 [GRCh38]
Chr10:43609122 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.3165A>G (p.Thr1055=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323772]|Multiple endocrine neoplasia, type 2 [RCV000468530] Chr10:43126700 [GRCh38]
Chr10:43622148 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.134C>T (p.Ala45Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568194]|Hirschsprung disease, susceptibility to, 1 [RCV002481388]|Hirschsprung disease, susceptibility to, 1 [RCV003463861]|Multiple endocrine neoplasia, type 2a [RCV000662783]|not provided [RCV000489446]|not specified [RCV001821237] Chr10:43100519 [GRCh38]
Chr10:43595967 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2128A>G (p.Lys710Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418358]|Hirschsprung disease, susceptibility to, 1 [RCV002480360]|Multiple endocrine neoplasia, type 2 [RCV000457350]|not provided [RCV003477946] Chr10:43114728 [GRCh38]
Chr10:43610176 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3090C>T (p.Asp1030=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323770]|Multiple endocrine neoplasia, type 2 [RCV000464798]|not specified [RCV003321620] Chr10:43126625 [GRCh38]
Chr10:43622073 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.835G>A (p.Ala279Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000476149]|Multiple endocrine neoplasia, type 2a [RCV000662362] Chr10:43105161 [GRCh38]
Chr10:43600609 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3237_3238del (p.Arg1079fs) microsatellite not specified [RCV000455536] Chr10:43128158..43128159 [GRCh38]
Chr10:43623606..43623607 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.947G>T (p.Ser316Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374734]|not specified [RCV000455580] Chr10:43106455 [GRCh38]
Chr10:43601903 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1264-7C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001487930] Chr10:43111200 [GRCh38]
Chr10:43606648 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2158C>T (p.Pro720Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014621]|Multiple endocrine neoplasia, type 2 [RCV000461409] Chr10:43116605 [GRCh38]
Chr10:43612053 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.547G>A (p.Gly183Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564807]|Multiple endocrine neoplasia, type 2 [RCV000465091] Chr10:43102551 [GRCh38]
Chr10:43597999 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2505C>T (p.Ser835=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015782]|Multiple endocrine neoplasia, type 2 [RCV000465124] Chr10:43119643 [GRCh38]
Chr10:43615091 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2135T>C (p.Leu712Pro) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV003470404]|Multiple endocrine neoplasia, type 2 [RCV000465229] Chr10:43114735 [GRCh38]
Chr10:43610183 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.175G>A (p.Ala59Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013005]|Multiple endocrine neoplasia, type 2 [RCV000557492]|not provided [RCV000486291] Chr10:43100560 [GRCh38]
Chr10:43596008 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.922G>A (p.Gly308Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000457916] Chr10:43106430 [GRCh38]
Chr10:43601878 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.249C>T (p.Asn83=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000461642] Chr10:43100634 [GRCh38]
Chr10:43596082 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys) single nucleotide variant Congenital central hypoventilation [RCV000764896]|Hereditary cancer-predisposing syndrome [RCV001011633]|Multiple endocrine neoplasia, type 2 [RCV000469046]|Multiple endocrine neoplasia, type 2a [RCV000709110] Chr10:43111391 [GRCh38]
Chr10:43606839 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.906C>T (p.Asp302=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018771]|Multiple endocrine neoplasia, type 2 [RCV000458012] Chr10:43106414 [GRCh38]
Chr10:43601862 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2689C>T (p.Arg897Ter) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000461915]|not provided [RCV002221538] Chr10:43120162 [GRCh38]
Chr10:43615610 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.626-4G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575748]|Multiple endocrine neoplasia, type 2 [RCV001085229]|RET-related condition [RCV003912825] Chr10:43104948 [GRCh38]
Chr10:43600396 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.786G>A (p.Val262=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258919]|Multiple endocrine neoplasia, type 2 [RCV001486592] Chr10:43105112 [GRCh38]
Chr10:43600560 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.178C>A (p.Pro60Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000458461] Chr10:43100563 [GRCh38]
Chr10:43596011 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.628G>A (p.Glu210Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025089]|Hirschsprung disease, susceptibility to, 1 [RCV001107518]|Multiple endocrine neoplasia [RCV001107516]|Multiple endocrine neoplasia, type 2 [RCV000462331]|Pheochromocytoma [RCV001107519]|Renal hypodysplasia/aplasia 1 [RCV001107517]|not provided [RCV001310571]|not specified [RCV001797722] Chr10:43104954 [GRCh38]
Chr10:43600402 [GRCh37]
Chr10:10q11.21
uncertain significance
NC_000010.11:g.(?_43100459)_(43102629_?)del deletion Multiple endocrine neoplasia, type 2 [RCV000466077] Chr10:43100459..43102629 [GRCh38]
Chr10:43595907..43598077 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3233C>T (p.Thr1078Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446783]|Hirschsprung disease, susceptibility to, 1 [RCV003463863]|Multiple endocrine neoplasia, type 2 [RCV000466142]|Multiple endocrine neoplasia, type 2a [RCV002291627]|not provided [RCV001770303]|not specified [RCV001821238] Chr10:43128157 [GRCh38]
Chr10:43623605 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.157G>A (p.Val53Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012280]|Multiple endocrine neoplasia, type 2 [RCV000466163] Chr10:43100542 [GRCh38]
Chr10:43595990 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1151C>G (p.Pro384Arg) single nucleotide variant Congenital central hypoventilation [RCV000764895]|Hereditary cancer-predisposing syndrome [RCV000571320]|Hirschsprung disease, susceptibility to, 1 [RCV003463860]|Multiple endocrine neoplasia, type 2 [RCV000469726]|not provided [RCV000679711] Chr10:43109118 [GRCh38]
Chr10:43604566 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.726G>A (p.Val242=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000470008] Chr10:43105052 [GRCh38]
Chr10:43600500 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.530G>A (p.Arg177Gln) single nucleotide variant Familial medullary thyroid carcinoma [RCV001294033]|Hereditary cancer-predisposing syndrome [RCV002348280]|Multiple endocrine neoplasia, type 2 [RCV000473800]|not provided [RCV003322771] Chr10:43102534 [GRCh38]
Chr10:43597982 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.457T>A (p.Ser153Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568512]|Multiple endocrine neoplasia, type 2 [RCV001247153] Chr10:43102461 [GRCh38]
Chr10:43597909 [GRCh37]
Chr10:10q11.21
uncertain significance
GRCh37/hg19 10q11.21(chr10:42706947-44489498)x3 copy number gain See cases [RCV000510280] Chr10:42706947..44489498 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1399G>C (p.Val467Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575346]|Hirschsprung disease, susceptibility to, 1 [RCV002496914]|Hirschsprung disease, susceptibility to, 1 [RCV003470621]|Multiple endocrine neoplasia, type 2 [RCV000688581]|Multiple endocrine neoplasia, type 2a [RCV002291649]|not provided [RCV000497413] Chr10:43111342 [GRCh38]
Chr10:43606790 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1009G>A (p.Glu337Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654585]|not provided [RCV000498580] Chr10:43106517 [GRCh38]
Chr10:43601965 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1196C>T (p.Pro399Leu) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000508605]|Multiple endocrine neoplasia, type 2 [RCV001855048]|not specified [RCV002469092] Chr10:43109163 [GRCh38]
Chr10:43604611 [GRCh37]
Chr10:10q11.21
pathogenic|uncertain significance
NM_020975.6(RET):c.3288T>G (p.Tyr1096Ter) single nucleotide variant not provided [RCV000494324] Chr10:43128212 [GRCh38]
Chr10:43623660 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.1055A>G (p.His352Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001856964]|not provided [RCV000494565] Chr10:43106563 [GRCh38]
Chr10:43602011 [GRCh37]
Chr10:10q11.21
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_020975.6(RET):c.2995G>A (p.Ala999Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572477]|Multiple endocrine neoplasia, type 2 [RCV001305918] Chr10:43124938 [GRCh38]
Chr10:43620386 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1882C>G (p.Pro628Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413648]|Multiple endocrine neoplasia, type 2 [RCV000541929] Chr10:43114482 [GRCh38]
Chr10:43609930 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3336T>C (p.Phe1112=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020023]|Multiple endocrine neoplasia, type 2 [RCV001086319]|not provided [RCV000827331] Chr10:43128260 [GRCh38]
Chr10:43623708 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3245G>A (p.Gly1082Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000560849] Chr10:43128169 [GRCh38]
Chr10:43623617 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1089C>T (p.Ser363=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296591] Chr10:43109056 [GRCh38]
Chr10:43604504 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2572A>G (p.Ile858Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296595] Chr10:43119710 [GRCh38]
Chr10:43615158 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1268G>A (p.Gly423Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297653] Chr10:43111211 [GRCh38]
Chr10:43606659 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2451C>G (p.Arg817=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297656] Chr10:43119589 [GRCh38]
Chr10:43615037 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1041G>T (p.Val347=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572765]|Multiple endocrine neoplasia, type 2 [RCV001447045] Chr10:43106549 [GRCh38]
Chr10:43601997 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3060G>A (p.Ala1020=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018395]|Multiple endocrine neoplasia, type 2 [RCV000538575]|RET-related condition [RCV003952895] Chr10:43126595 [GRCh38]
Chr10:43622043 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1549C>G (p.Leu517Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575351]|Multiple endocrine neoplasia, type 2 [RCV000704501]|Multiple endocrine neoplasia, type 2a [RCV002291673] Chr10:43112125 [GRCh38]
Chr10:43607573 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.452A>G (p.Asn151Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575489]|Hirschsprung disease, susceptibility to, 1 [RCV002483540]|Hirschsprung disease, susceptibility to, 1 [RCV003459399]|Multiple endocrine neoplasia, type 2 [RCV000812605]|Multiple endocrine neoplasia, type 2a [RCV000709102]|not provided [RCV001764690] Chr10:43102456 [GRCh38]
Chr10:43597904 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1766G>A (p.Ser589Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297664] Chr10:43113562 [GRCh38]
Chr10:43609010 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2560T>G (p.Phe854Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297676] Chr10:43119698 [GRCh38]
Chr10:43615146 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1772T>A (p.Val591Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297687] Chr10:43113568 [GRCh38]
Chr10:43609016 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1934C>T (p.Ser645Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297688] Chr10:43114534 [GRCh38]
Chr10:43609982 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.31C>A (p.Leu11Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575741]|Multiple endocrine neoplasia, type 2 [RCV000689589]|RET-related condition [RCV003925750]|not specified [RCV001821691] Chr10:43077289 [GRCh38]
Chr10:43572737 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.478C>T (p.Leu160Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575783]|Multiple endocrine neoplasia, type 2 [RCV001243228]|not provided [RCV003233748]|not specified [RCV002268204] Chr10:43102482 [GRCh38]
Chr10:43597930 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2479C>T (p.Leu827=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575854]|Multiple endocrine neoplasia, type 2 [RCV001426225] Chr10:43119617 [GRCh38]
Chr10:43615065 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.864G>A (p.Lys288=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377188]|Multiple endocrine neoplasia, type 2 [RCV000535132] Chr10:43105190 [GRCh38]
Chr10:43600638 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1569G>A (p.Lys523=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570660]|Multiple endocrine neoplasia, type 2 [RCV000654639] Chr10:43112145 [GRCh38]
Chr10:43607593 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2290G>A (p.Ala764Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000576114]|Hirschsprung disease, susceptibility to, 1 [RCV002476250]|Multiple endocrine neoplasia, type 2 [RCV000654575] Chr10:43118378 [GRCh38]
Chr10:43613826 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.1427C>G (p.Pro476Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573686]|Multiple endocrine neoplasia, type 2 [RCV001858146] Chr10:43111370 [GRCh38]
Chr10:43606818 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3200C>T (p.Pro1067Leu) single nucleotide variant Familial medullary thyroid carcinoma [RCV001294031]|Hereditary cancer-predisposing syndrome [RCV002448801]|Multiple endocrine neoplasia, type 2 [RCV000535690]|not provided [RCV001811073] Chr10:43128124 [GRCh38]
Chr10:43623572 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_020975.6(RET):c.2041C>G (p.Gln681Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014192]|Hirschsprung disease, susceptibility to, 1 [RCV003470793]|Multiple endocrine neoplasia, type 2 [RCV000558712]|not specified [RCV003330795] Chr10:43114641 [GRCh38]
Chr10:43610089 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.553T>C (p.Phe185Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571696]|Multiple endocrine neoplasia, type 2 [RCV001858383] Chr10:43102557 [GRCh38]
Chr10:43598005 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1731C>G (p.Asp577Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404575]|Multiple endocrine neoplasia, type 2 [RCV000536850]|not provided [RCV003480695] Chr10:43112935 [GRCh38]
Chr10:43608383 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2945G>A (p.Arg982His) single nucleotide variant Congenital central hypoventilation [RCV000763650]|Hereditary cancer-predisposing syndrome [RCV001017621]|Multiple endocrine neoplasia, type 2 [RCV000536923]|not provided [RCV003156261] Chr10:43124888 [GRCh38]
Chr10:43620336 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.295C>T (p.Arg99Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571982]|Multiple endocrine neoplasia, type 2 [RCV001212218] Chr10:43100680 [GRCh38]
Chr10:43596128 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.884C>G (p.Thr295Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572152]|not specified [RCV000678746] Chr10:43106392 [GRCh38]
Chr10:43601840 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.740C>T (p.Ala247Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574821]|Multiple endocrine neoplasia, type 2 [RCV001366883] Chr10:43105066 [GRCh38]
Chr10:43600514 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2601G>A (p.Glu867=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574891]|Multiple endocrine neoplasia, type 2 [RCV003645861] Chr10:43119739 [GRCh38]
Chr10:43615187 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.81G>A (p.Leu27=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027268]|Hirschsprung disease, susceptibility to, 1 [RCV002491107]|Multiple endocrine neoplasia, type 2 [RCV000556693]|not provided [RCV001547541] Chr10:43100466 [GRCh38]
Chr10:43595914 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.576T>C (p.Pro192=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283598] Chr10:43102580 [GRCh38]
Chr10:43598028 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.402G>A (p.Glu134=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283600] Chr10:43102406 [GRCh38]
Chr10:43597854 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3189C>G (p.Gly1063=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283610] Chr10:43128113 [GRCh38]
Chr10:43623561 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.455C>G (p.Thr152Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283611] Chr10:43102459 [GRCh38]
Chr10:43597907 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1429A>G (p.Lys477Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283614] Chr10:43111372 [GRCh38]
Chr10:43606820 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2405T>A (p.Leu802His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283618] Chr10:43119543 [GRCh38]
Chr10:43614991 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1402A>G (p.Asn468Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000555486] Chr10:43111345 [GRCh38]
Chr10:43606793 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2683T>A (p.Leu895Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431719]|Multiple endocrine neoplasia, type 2 [RCV000559191] Chr10:43120156 [GRCh38]
Chr10:43615604 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2815G>A (p.Val939Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571698]|Multiple endocrine neoplasia, type 2 [RCV001858385]|RET-related condition [RCV003983130] Chr10:43123684 [GRCh38]
Chr10:43619132 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.423C>T (p.Gly141=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574267]|Multiple endocrine neoplasia, type 2 [RCV002060528] Chr10:43102427 [GRCh38]
Chr10:43597875 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2393-5C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003352939]|Hirschsprung disease, susceptibility to, 1 [RCV002476358]|Multiple endocrine neoplasia, type 2 [RCV001433390]|not specified [RCV000615821] Chr10:43119526 [GRCh38]
Chr10:43614974 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.487C>A (p.Arg163=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023187]|Hirschsprung disease, susceptibility to, 1 [RCV001103796]|Multiple endocrine neoplasia [RCV001103795]|Multiple endocrine neoplasia, type 2 [RCV001084075]|Pheochromocytoma [RCV001103797]|Renal hypodysplasia/aplasia 1 [RCV001105727]|not provided [RCV000679752] Chr10:43102491 [GRCh38]
Chr10:43597939 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.1163T>C (p.Val388Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010068]|Multiple endocrine neoplasia, type 2 [RCV000560343] Chr10:43109130 [GRCh38]
Chr10:43604578 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NC_000010.10:g.43611191_61663279inv inversion Pediatric metastatic thyroid tumour [RCV000585841] Chr10:43611191..61663279 [GRCh37]
Chr10:10q11.21-21.2
likely pathogenic
NM_020975.6(RET):c.603C>T (p.Ser201=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358621]|Hirschsprung disease, susceptibility to, 1 [RCV001106848]|Multiple endocrine neoplasia [RCV001107515]|Multiple endocrine neoplasia, type 2 [RCV000555991]|Pheochromocytoma [RCV001106849]|Renal hypodysplasia/aplasia 1 [RCV001106847] Chr10:43102607 [GRCh38]
Chr10:43598055 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.3022A>T (p.Met1008Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569684]|Hirschsprung disease, susceptibility to, 1 [RCV002483541]|Multiple endocrine neoplasia, type 2 [RCV000817531] Chr10:43124965 [GRCh38]
Chr10:43620413 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.558C>T (p.His186=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297658] Chr10:43102562 [GRCh38]
Chr10:43598010 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.289C>G (p.Leu97Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297659] Chr10:43100674 [GRCh38]
Chr10:43596122 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1219A>G (p.Thr407Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297663] Chr10:43109186 [GRCh38]
Chr10:43604634 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.482A>C (p.Lys161Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297671] Chr10:43102486 [GRCh38]
Chr10:43597934 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.511A>C (p.Arg171=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297672] Chr10:43102515 [GRCh38]
Chr10:43597963 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.707A>C (p.Lys236Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297673] Chr10:43105033 [GRCh38]
Chr10:43600481 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2176C>A (p.Leu726Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297675] Chr10:43116623 [GRCh38]
Chr10:43612071 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1176C>G (p.His392Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297686] Chr10:43109143 [GRCh38]
Chr10:43604591 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1927C>G (p.Leu643Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297690] Chr10:43114527 [GRCh38]
Chr10:43609975 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1198G>T (p.Val400Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297691] Chr10:43109165 [GRCh38]
Chr10:43604613 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2018A>C (p.Glu673Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569915]|Hirschsprung disease, susceptibility to, 1 [RCV002491140]|Hirschsprung disease, susceptibility to, 1 [RCV003465275]|Multiple endocrine neoplasia, type 2 [RCV001068963]|not provided [RCV002476251]|not specified [RCV001731794] Chr10:43114618 [GRCh38]
Chr10:43610066 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1221C>T (p.Thr407=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360481]|Multiple endocrine neoplasia, type 2 [RCV000654610]|not specified [RCV000616700] Chr10:43109188 [GRCh38]
Chr10:43604636 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1189G>A (p.Val397Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000534092]|Ovarian cancer [RCV003153730] Chr10:43109156 [GRCh38]
Chr10:43604604 [GRCh37]
Chr10:10q11.21
likely pathogenic|uncertain significance
NM_020975.6(RET):c.2723G>A (p.Arg908Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000534223] Chr10:43120196 [GRCh38]
Chr10:43615644 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1224C>T (p.Tyr408=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010416]|Multiple endocrine neoplasia, type 2 [RCV000534440] Chr10:43109191 [GRCh38]
Chr10:43604639 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1216A>C (p.Ser406Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296590]|Multiple endocrine neoplasia, type 2 [RCV003533835] Chr10:43109183 [GRCh38]
Chr10:43604631 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2972A>G (p.Glu991Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296594] Chr10:43124915 [GRCh38]
Chr10:43620363 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.731C>T (p.Thr244Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026272]|Hirschsprung disease, susceptibility to, 1 [RCV002506371]|Multiple endocrine neoplasia, type 2 [RCV000557609] Chr10:43105057 [GRCh38]
Chr10:43600505 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2098_2115dup (p.Ser705_Val706insMetGluAsnGlnValSer) duplication Hereditary cancer-predisposing syndrome [RCV001014424]|Multiple endocrine neoplasia, type 2 [RCV000557794] Chr10:43114693..43114694 [GRCh38]
Chr10:43610141..43610142 [GRCh37]
Chr10:10q11.21
uncertain significance
NC_000010.10:g.(?_43572701)_(43623723_?)dup duplication Multiple endocrine neoplasia, type 2 [RCV000539226] Chr10:43077253..43128275 [GRCh38]
Chr10:43572701..43623723 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1612A>G (p.Thr538Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296600] Chr10:43112188 [GRCh38]
Chr10:43607636 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3091G>A (p.Asp1031Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018560]|Multiple endocrine neoplasia, type 2 [RCV000654550]|Multiple endocrine neoplasia, type 2a [RCV000988350] Chr10:43126626 [GRCh38]
Chr10:43622074 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.577G>T (p.Val193Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024524]|Hirschsprung disease, susceptibility to, 1 [RCV002485477]|Multiple endocrine neoplasia, type 2 [RCV000654552] Chr10:43102581 [GRCh38]
Chr10:43598029 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3281G>A (p.Ser1094Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442367]|Multiple endocrine neoplasia, type 2 [RCV000654553] Chr10:43128205 [GRCh38]
Chr10:43623653 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1138G>A (p.Asp380Asn) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002485478]|Multiple endocrine neoplasia, type 2 [RCV000654554] Chr10:43109105 [GRCh38]
Chr10:43604553 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1759+10G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654556] Chr10:43112973 [GRCh38]
Chr10:43608421 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2161C>T (p.Arg721Trp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654557] Chr10:43116608 [GRCh38]
Chr10:43612056 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1681A>T (p.Ser561Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372795]|Multiple endocrine neoplasia, type 2 [RCV000654558] Chr10:43112885 [GRCh38]
Chr10:43608333 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2234A>C (p.His745Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654559] Chr10:43116681 [GRCh38]
Chr10:43612129 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3166T>C (p.Trp1056Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018892]|Multiple endocrine neoplasia, type 2 [RCV000654560] Chr10:43126701 [GRCh38]
Chr10:43622149 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.58C>T (p.Pro20Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024664]|Multiple endocrine neoplasia, type 2 [RCV000654562] Chr10:43077316 [GRCh38]
Chr10:43572764 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1963T>C (p.Phe655Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013883]|Multiple endocrine neoplasia, type 2 [RCV000654563] Chr10:43114563 [GRCh38]
Chr10:43610011 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2870C>T (p.Pro957Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440386]|Hirschsprung disease, susceptibility to, 1 [RCV003459552]|Multiple endocrine neoplasia, type 2 [RCV000654564] Chr10:43123739 [GRCh38]
Chr10:43619187 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.853T>C (p.Phe285Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654565] Chr10:43105179 [GRCh38]
Chr10:43600627 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2996C>T (p.Ala999Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440387]|Hirschsprung disease, susceptibility to, 1 [RCV002507128]|Multiple endocrine neoplasia, type 2 [RCV000654569] Chr10:43124939 [GRCh38]
Chr10:43620387 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.350C>A (p.Pro117His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020483]|Hirschsprung disease, susceptibility to, 1 [RCV002493057]|Multiple endocrine neoplasia, type 2 [RCV000654570] Chr10:43102354 [GRCh38]
Chr10:43597802 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2486G>C (p.Ser829Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424549]|Multiple endocrine neoplasia, type 2 [RCV000654571]|not provided [RCV002477455] Chr10:43119624 [GRCh38]
Chr10:43615072 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2735G>T (p.Arg912Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440388]|Multiple endocrine neoplasia, type 2 [RCV000654572]|not provided [RCV003238798] Chr10:43121950 [GRCh38]
Chr10:43617398 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2897C>T (p.Thr966Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440389]|Multiple endocrine neoplasia, type 2 [RCV000654573] Chr10:43123766 [GRCh38]
Chr10:43619214 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2428G>A (p.Gly810Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015496]|Multiple endocrine neoplasia, type 2 [RCV000654574] Chr10:43119566 [GRCh38]
Chr10:43615014 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.744C>T (p.Gly248=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654576] Chr10:43105070 [GRCh38]
Chr10:43600518 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018329]|Hirschsprung disease, susceptibility to, 1 [RCV001106022]|Multiple endocrine neoplasia [RCV001106023]|Multiple endocrine neoplasia, type 2 [RCV000654577]|Multiple endocrine neoplasia, type 2a [RCV000709125]|Pheochromocytoma [RCV001106020]|Renal hypodysplasia/aplasia 1 [RCV001106021]|not provided [RCV003318621]|not specified [RCV003493698] Chr10:43126587 [GRCh38]
Chr10:43622035 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.3287A>G (p.Tyr1096Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442368]|Multiple endocrine neoplasia, type 2 [RCV000654578] Chr10:43128211 [GRCh38]
Chr10:43623659 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1299C>G (p.Phe433Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010584]|Multiple endocrine neoplasia, type 2 [RCV000654579]|RET-related condition [RCV003965416] Chr10:43111242 [GRCh38]
Chr10:43606690 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2420C>T (p.Ala807Val) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV003459553]|Multiple endocrine neoplasia, type 2 [RCV000654580] Chr10:43119558 [GRCh38]
Chr10:43615006 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2657G>A (p.Arg886Gln) single nucleotide variant Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype [RCV003313129]|Hereditary cancer-predisposing syndrome [RCV000708758]|Hirschsprung disease, susceptibility to, 1 [RCV002477456]|Hirschsprung disease, susceptibility to, 1 [RCV003459554]|Multiple endocrine neoplasia, type 2 [RCV000654581]|not provided [RCV002284418] Chr10:43120130 [GRCh38]
Chr10:43615578 [GRCh37]
Chr10:10q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.2758A>G (p.Ile920Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440390]|Multiple endocrine neoplasia, type 2 [RCV000654583] Chr10:43121973 [GRCh38]
Chr10:43617421 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1079G>A (p.Arg360Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422430]|Hirschsprung disease, susceptibility to, 1 [RCV003465422]|Multiple endocrine neoplasia, type 2 [RCV000654586] Chr10:43109046 [GRCh38]
Chr10:43604494 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.796G>A (p.Asp266Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422431]|Hirschsprung disease, susceptibility to, 1 [RCV003465423]|Multiple endocrine neoplasia, type 2 [RCV000654587] Chr10:43105122 [GRCh38]
Chr10:43600570 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.44TGC[4] (p.Leu19del) microsatellite Hereditary cancer-predisposing syndrome [RCV002343391]|Multiple endocrine neoplasia, type 2 [RCV000654588]|Multiple endocrine neoplasia, type 2a [RCV000988339] Chr10:43077302..43077304 [GRCh38]
Chr10:43572762..43572764 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1538C>G (p.Ala513Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012090]|Multiple endocrine neoplasia, type 2 [RCV000654589]|not provided [RCV003442008] Chr10:43112114 [GRCh38]
Chr10:43607562 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1222T>A (p.Tyr408Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010408]|Multiple endocrine neoplasia, type 2 [RCV000654590] Chr10:43109189 [GRCh38]
Chr10:43604637 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1154G>T (p.Gly385Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360666]|Hirschsprung disease, susceptibility to, 1 [RCV002507129]|Multiple endocrine neoplasia, type 2 [RCV000654591] Chr10:43109121 [GRCh38]
Chr10:43604569 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.752AGG[1] (p.Glu252del) microsatellite Multiple endocrine neoplasia, type 2 [RCV000654594] Chr10:43105077..43105079 [GRCh38]
Chr10:43600525..43600527 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3131A>G (p.Asn1044Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325323]|Multiple endocrine neoplasia, type 2 [RCV000654595] Chr10:43126666 [GRCh38]
Chr10:43622114 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.658A>T (p.Ser220Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369766]|Multiple endocrine neoplasia, type 2 [RCV000654596] Chr10:43104984 [GRCh38]
Chr10:43600432 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1934_1936del (p.Ser645del) deletion Congenital anomaly of kidney and urinary tract [RCV001328256]|Hereditary cancer-predisposing syndrome [RCV001013641]|Multiple endocrine neoplasia, type 2 [RCV000654597]|Multiple endocrine neoplasia, type 2b [RCV001262458]|not specified [RCV001816650] Chr10:43114532..43114534 [GRCh38]
Chr10:43609980..43609982 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2546G>A (p.Gly849Asp) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002485479]|Multiple endocrine neoplasia, type 2 [RCV000654598] Chr10:43119684 [GRCh38]
Chr10:43615132 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3068C>T (p.Pro1023Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018435]|Multiple endocrine neoplasia, type 2 [RCV000654599]|not provided [RCV003480744] Chr10:43126603 [GRCh38]
Chr10:43622051 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1364T>C (p.Val455Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654600] Chr10:43111307 [GRCh38]
Chr10:43606755 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019124]|Hirschsprung disease, susceptibility to, 1 [RCV002507130]|Multiple endocrine neoplasia, type 2 [RCV000654601]|Multiple endocrine neoplasia, type 2a [RCV000663067]|not provided [RCV002284419] Chr10:43128123 [GRCh38]
Chr10:43623571 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1523-4G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654603] Chr10:43112095 [GRCh38]
Chr10:43607543 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.984C>T (p.Thr328=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003163019]|Multiple endocrine neoplasia, type 2 [RCV000654604] Chr10:43106492 [GRCh38]
Chr10:43601940 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2939+10del deletion Multiple endocrine neoplasia, type 2 [RCV000654605] Chr10:43123815 [GRCh38]
Chr10:43619263 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.147C>G (p.Pro49=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654606] Chr10:43100532 [GRCh38]
Chr10:43595980 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1698C>T (p.Pro566=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397326]|Multiple endocrine neoplasia, type 2 [RCV000654607] Chr10:43112902 [GRCh38]
Chr10:43608350 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1548C>A (p.Pro516=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397327]|Multiple endocrine neoplasia, type 2 [RCV000654608] Chr10:43112124 [GRCh38]
Chr10:43607572 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3006C>T (p.Ser1002=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440391]|Hirschsprung disease, susceptibility to, 1 [RCV002507131]|Multiple endocrine neoplasia, type 2 [RCV000654611]|not provided [RCV003478387] Chr10:43124949 [GRCh38]
Chr10:43620397 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1686C>T (p.Thr562=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397328]|Multiple endocrine neoplasia, type 2 [RCV000654612]|not provided [RCV003237979] Chr10:43112890 [GRCh38]
Chr10:43608338 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.237G>T (p.Arg79=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015327]|Multiple endocrine neoplasia, type 2 [RCV001088057]|not provided [RCV000729527] Chr10:43100622 [GRCh38]
Chr10:43596070 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.1677T>C (p.Ser559=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406486]|Multiple endocrine neoplasia, type 2 [RCV000654614] Chr10:43112881 [GRCh38]
Chr10:43608329 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1833C>T (p.Cys611=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654616] Chr10:43113629 [GRCh38]
Chr10:43609077 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.705G>A (p.Glu235=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654618] Chr10:43105031 [GRCh38]
Chr10:43600479 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2124C>T (p.Ala708=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014532]|Hirschsprung disease, susceptibility to, 1 [RCV002493058]|Multiple endocrine neoplasia, type 2 [RCV000654619] Chr10:43114724 [GRCh38]
Chr10:43610172 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.96G>A (p.Ser32=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019653]|Hirschsprung disease, susceptibility to, 1 [RCV002507132]|Multiple endocrine neoplasia, type 2 [RCV000654620] Chr10:43100481 [GRCh38]
Chr10:43595929 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2502C>T (p.Asn834=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654621] Chr10:43119640 [GRCh38]
Chr10:43615088 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3177C>T (p.Asn1059=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654623] Chr10:43126712 [GRCh38]
Chr10:43622160 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1047G>A (p.Ala349=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257919]|Multiple endocrine neoplasia, type 2 [RCV000654624] Chr10:43106555 [GRCh38]
Chr10:43602003 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.177C>A (p.Ala59=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406487]|Multiple endocrine neoplasia, type 2 [RCV000654625] Chr10:43100562 [GRCh38]
Chr10:43596010 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.795G>A (p.Glu265=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303079]|Multiple endocrine neoplasia, type 2 [RCV000654626] Chr10:43105121 [GRCh38]
Chr10:43600569 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.528T>A (p.Ile176=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654627] Chr10:43102532 [GRCh38]
Chr10:43597980 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1617C>G (p.Gly539=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654628] Chr10:43112193 [GRCh38]
Chr10:43607641 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.942C>T (p.Tyr314=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654629] Chr10:43106450 [GRCh38]
Chr10:43601898 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+9T>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654630] Chr10:43077340 [GRCh38]
Chr10:43572788 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1665C>T (p.Phe555=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012620]|Multiple endocrine neoplasia, type 2 [RCV000654631] Chr10:43112869 [GRCh38]
Chr10:43608317 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2085C>T (p.Pro695=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014376]|Multiple endocrine neoplasia, type 2 [RCV000654632] Chr10:43114685 [GRCh38]
Chr10:43610133 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1263+7C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654633] Chr10:43109237 [GRCh38]
Chr10:43604685 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1371A>T (p.Ser457=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011190]|Hirschsprung disease, susceptibility to, 1 [RCV002493059]|Multiple endocrine neoplasia, type 2 [RCV000654635] Chr10:43111314 [GRCh38]
Chr10:43606762 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3303T>C (p.Leu1101=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458161]|Multiple endocrine neoplasia, type 2 [RCV000654636] Chr10:43128227 [GRCh38]
Chr10:43623675 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2373T>C (p.Tyr791=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458162]|Multiple endocrine neoplasia, type 2 [RCV000654637] Chr10:43118461 [GRCh38]
Chr10:43613909 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1064-3C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406488]|Multiple endocrine neoplasia, type 2 [RCV000654638] Chr10:43109028 [GRCh38]
Chr10:43604476 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3039+7G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000654640] Chr10:43124989 [GRCh38]
Chr10:43620437 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1926C>G (p.Val642=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013716]|Multiple endocrine neoplasia, type 2 [RCV001084579]|RET-related condition [RCV003928143]|not provided [RCV000654641] Chr10:43114526 [GRCh38]
Chr10:43609974 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.943A>C (p.Thr315Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377189]|Hirschsprung disease, susceptibility to, 1 [RCV003459266]|Multiple endocrine neoplasia, type 2 [RCV000535337]|not provided [RCV000679756] Chr10:43106451 [GRCh38]
Chr10:43601899 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.550A>G (p.Thr184Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573485]|Multiple endocrine neoplasia, type 2 [RCV001853798] Chr10:43102554 [GRCh38]
Chr10:43598002 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1374C>T (p.Ala458=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011249]|Multiple endocrine neoplasia, type 2 [RCV000870402]|not provided [RCV003420069]|not specified [RCV000614272] Chr10:43111317 [GRCh38]
Chr10:43606765 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.176C>T (p.Ala59Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000535796] Chr10:43100561 [GRCh38]
Chr10:43596009 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.219C>T (p.Tyr73=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014762]|Multiple endocrine neoplasia, type 2 [RCV000536235] Chr10:43100604 [GRCh38]
Chr10:43596052 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1353G>A (p.Thr451=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385930]|Multiple endocrine neoplasia, type 2 [RCV000946087]|not specified [RCV000604367] Chr10:43111296 [GRCh38]
Chr10:43606744 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1523-12T>G single nucleotide variant not specified [RCV000605552] Chr10:43112087 [GRCh38]
Chr10:43607535 [GRCh37]
Chr10:10q11.21
likely benign
Single allele duplication not specified [RCV000597959] Chr10:43572756..43572764 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2071G>T (p.Gly691Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372819]|Multiple endocrine neoplasia, type 2 [RCV000699283] Chr10:43114671 [GRCh38]
Chr10:43610119 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.884C>T (p.Thr295Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018407]|Multiple endocrine neoplasia, type 2 [RCV001040270]|RET-related condition [RCV003403530]|not provided [RCV001779040] Chr10:43106392 [GRCh38]
Chr10:43601840 [GRCh37]
Chr10:10q11.21
pathogenic|uncertain significance
NM_020975.6(RET):c.1513_1518del (p.Glu505_Gly506del) deletion Multiple endocrine neoplasia, type 2a [RCV000664338] Chr10:43111455..43111460 [GRCh38]
Chr10:43606903..43606908 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1545C>G (p.Cys515Trp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000664341] Chr10:43112121 [GRCh38]
Chr10:43607569 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1860C>T (p.Cys620=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256461]|Multiple endocrine neoplasia, type 2 [RCV000695872] Chr10:43113656 [GRCh38]
Chr10:43609104 [GRCh37]
Chr10:10q11.21
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.1930T>G (p.Phe644Val) single nucleotide variant not specified [RCV000664366] Chr10:43114530 [GRCh38]
Chr10:43609978 [GRCh37]
Chr10:10q11.21
pathogenic|uncertain significance
NM_020975.6(RET):c.2121T>A (p.Asp707Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417633] Chr10:43114721 [GRCh38]
Chr10:43610169 [GRCh37]
Chr10:10q11.21
pathogenic|uncertain significance
NM_020975.6(RET):c.2348A>G (p.Asn783Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015249]|Multiple endocrine neoplasia, type 2 [RCV000821548]|not provided [RCV002286772] Chr10:43118436 [GRCh38]
Chr10:43613884 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.337+11C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002060797]|Multiple endocrine neoplasia, type 2a [RCV000662936]|not provided [RCV000679748]|not specified [RCV003403527] Chr10:43100733 [GRCh38]
Chr10:43596181 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3176A>G (p.Asn1059Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325336]|Hirschsprung disease, susceptibility to, 1 [RCV002485509]|Hirschsprung disease, susceptibility to, 1 [RCV003459563]|Multiple endocrine neoplasia, type 2 [RCV000691242]|Multiple endocrine neoplasia, type 2a [RCV000663319] Chr10:43126711 [GRCh38]
Chr10:43622159 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1890CGA[1] (p.Asp631del) microsatellite Multiple endocrine neoplasia, type 2 [RCV000808356] Chr10:43114490..43114492 [GRCh38]
Chr10:43609938..43609940 [GRCh37]
Chr10:10q11.21
pathogenic|uncertain significance
NM_020975.6(RET):c.2248G>C (p.Ala750Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001985345] Chr10:43116695 [GRCh38]
Chr10:43612143 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1544G>T (p.Cys515Phe) single nucleotide variant not specified [RCV000664340] Chr10:43112120 [GRCh38]
Chr10:43607568 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1621T>C (p.Cys541Arg) single nucleotide variant not specified [RCV000664343] Chr10:43112197 [GRCh38]
Chr10:43607645 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1827C>T (p.Cys609=) single nucleotide variant not provided [RCV003481967] Chr10:43113623 [GRCh38]
Chr10:43609071 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1846G>C (p.Glu616Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412940]|Multiple endocrine neoplasia, type 2 [RCV003097295] Chr10:43113642 [GRCh38]
Chr10:43609090 [GRCh37]
Chr10:10q11.21
pathogenic|uncertain significance
NM_020975.6(RET):c.2311G>A (p.Asp771Asn) single nucleotide variant not specified [RCV000664382] Chr10:43118399 [GRCh38]
Chr10:43613847 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2411T>C (p.Val804Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003167668]|Multiple endocrine neoplasia, type 2 [RCV002726228] Chr10:43119549 [GRCh38]
Chr10:43614997 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1016C>T (p.Ser339Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002343411]|Hirschsprung disease, susceptibility to, 1 [RCV002485508]|Multiple endocrine neoplasia, type 2 [RCV000818592]|Multiple endocrine neoplasia, type 2a [RCV000663096] Chr10:43106524 [GRCh38]
Chr10:43601972 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1859_1860delinsTG (p.Cys620Leu) indel not specified [RCV000664351] Chr10:43113655..43113656 [GRCh38]
Chr10:43609103..43609104 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1997A>C (p.Lys666Thr) single nucleotide variant Multiple endocrine neoplasia, type 2a [RCV000664373] Chr10:43114597 [GRCh38]
Chr10:43610045 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.3025A>G (p.Met1009Val) single nucleotide variant not specified [RCV000664397] Chr10:43124968 [GRCh38]
Chr10:43620416 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2392+19T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256459]|Multiple endocrine neoplasia, type 2 [RCV001455001]|Multiple endocrine neoplasia, type 2a [RCV000662501]|not provided [RCV000835063] Chr10:43118499 [GRCh38]
Chr10:43613947 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1857_1858delinsTC (p.Cys620Arg) indel Multiple endocrine neoplasia, type 2a [RCV000664349] Chr10:43113653..43113654 [GRCh38]
Chr10:43609101..43609102 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1895A>G (p.Glu632Gly) single nucleotide variant not provided [RCV002287019] Chr10:43114495 [GRCh38]
Chr10:43609943 [GRCh37]
Chr10:10q11.21
pathogenic|uncertain significance
NM_020975.6(RET):c.1997A>G (p.Lys666Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001915699] Chr10:43114597 [GRCh38]
Chr10:43610045 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2364C>T (p.Ile788=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450132] Chr10:43118452 [GRCh38]
Chr10:43613900 [GRCh37]
Chr10:10q11.21
pathogenic|likely benign|uncertain significance
NM_020975.6(RET):c.3049G>A (p.Asp1017Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001320362] Chr10:43126584 [GRCh38]
Chr10:43622032 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1083C>A (p.Asn361Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017228]|Multiple endocrine neoplasia, type 2 [RCV000823028]|Multiple endocrine neoplasia, type 2a [RCV000663048]|RET-related condition [RCV003403528]|not provided [RCV002469239]|not specified [RCV001816663] Chr10:43109050 [GRCh38]
Chr10:43604498 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2285-4T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442386]|Multiple endocrine neoplasia, type 2 [RCV001456357]|Multiple endocrine neoplasia, type 2a [RCV000663194] Chr10:43118369 [GRCh38]
Chr10:43613817 [GRCh37]
Chr10:10q11.21
benign|likely benign|conflicting interpretations of pathogenicity
NM_020975.6(RET):c.1649-4G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012564]|Hirschsprung disease, susceptibility to, 1 [RCV001104474]|Multiple endocrine neoplasia [RCV001104476]|Multiple endocrine neoplasia, type 2 [RCV000862007]|Multiple endocrine neoplasia, type 2a [RCV000663217]|Pheochromocytoma [RCV001104477]|Renal hypodysplasia/aplasia 1 [RCV001104475] Chr10:43112849 [GRCh38]
Chr10:43608297 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2137-16del deletion Multiple endocrine neoplasia, type 2 [RCV002060802]|Multiple endocrine neoplasia, type 2a [RCV000663236] Chr10:43116566 [GRCh38]
Chr10:43612014 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2097C>T (p.Ser699=) single nucleotide variant not specified [RCV000664377] Chr10:43114697 [GRCh38]
Chr10:43610145 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3122T>G (p.Val1041Gly) single nucleotide variant not specified [RCV000664399] Chr10:43126657 [GRCh38]
Chr10:43622105 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1267G>A (p.Gly423Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369789]|Multiple endocrine neoplasia, type 2 [RCV000704241]|Multiple endocrine neoplasia, type 2a [RCV000662983]|not provided [RCV002464285] Chr10:43111210 [GRCh38]
Chr10:43606658 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3188-2A>G single nucleotide variant Multiple endocrine neoplasia, type 2a [RCV000663308] Chr10:43128110 [GRCh38]
Chr10:43623558 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1876C>A (p.Gln626Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406502]|Multiple endocrine neoplasia, type 2 [RCV001035381]|Multiple endocrine neoplasia, type 2a [RCV000663335] Chr10:43113672 [GRCh38]
Chr10:43609120 [GRCh37]
Chr10:10q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.329G>A (p.Ser110Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000685948] Chr10:43100714 [GRCh38]
Chr10:43596162 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2057G>A (p.Ser686Asn) single nucleotide variant not specified [RCV000664376] Chr10:43114657 [GRCh38]
Chr10:43610105 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1280_1281del (p.Val427fs) microsatellite Hirschsprung disease, susceptibility to, 1 [RCV000721942] Chr10:43111219..43111220 [GRCh38]
Chr10:43606667..43606668 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.397C>T (p.Arg133Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021572]|Multiple endocrine neoplasia, type 2 [RCV000700090] Chr10:43102401 [GRCh38]
Chr10:43597849 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2776C>T (p.His926Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440512]|Multiple endocrine neoplasia, type 2 [RCV000701290]|not provided [RCV003322814] Chr10:43121991 [GRCh38]
Chr10:43617439 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1063+20C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002066994]|not provided [RCV000679706] Chr10:43106591 [GRCh38]
Chr10:43602039 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1416C>G (p.Ala472=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388190]|Multiple endocrine neoplasia, type 2 [RCV002531404]|not provided [RCV000679713] Chr10:43111359 [GRCh38]
Chr10:43606807 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1522+17G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001855628]|not provided [RCV000679717] Chr10:43111482 [GRCh38]
Chr10:43606930 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1609C>T (p.Pro537Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003645867]|not provided [RCV000679720] Chr10:43112185 [GRCh38]
Chr10:43607633 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1064-18T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002060855]|not specified [RCV000679707] Chr10:43109013 [GRCh38]
Chr10:43604461 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.1470G>A (p.Gln490=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303101]|Multiple endocrine neoplasia, type 2 [RCV002531405]|not provided [RCV000679715] Chr10:43111413 [GRCh38]
Chr10:43606861 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2249C>G (p.Ala750Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424576]|Hirschsprung disease, susceptibility to, 1 [RCV003459651]|Multiple endocrine neoplasia, type 2 [RCV001342896]|not provided [RCV000679729] Chr10:43116696 [GRCh38]
Chr10:43612144 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.340C>T (p.Arg114Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458190]|Multiple endocrine neoplasia, type 2 [RCV001218057]|not provided [RCV000679749] Chr10:43102344 [GRCh38]
Chr10:43597792 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1078C>A (p.Arg360=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003768034]|not provided [RCV000679709] Chr10:43109045 [GRCh38]
Chr10:43604493 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.613A>G (p.Arg205Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352101]|Multiple endocrine neoplasia, type 2 [RCV001344027]|not provided [RCV000679754] Chr10:43102617 [GRCh38]
Chr10:43598065 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2100G>A (p.Met700Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003645868]|not provided [RCV000679727] Chr10:43114700 [GRCh38]
Chr10:43610148 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2716G>A (p.Val906Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002531406]|not provided [RCV000679736] Chr10:43120189 [GRCh38]
Chr10:43615637 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2731-8C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001443766]|not provided [RCV000679737] Chr10:43121938 [GRCh38]
Chr10:43617386 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.602G>C (p.Ser201Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352100]|Hirschsprung disease, susceptibility to, 1 [RCV002499197]|Hirschsprung disease, susceptibility to, 1 [RCV003459652]|Multiple endocrine neoplasia, type 2 [RCV001066218]|not provided [RCV000679753] Chr10:43102606 [GRCh38]
Chr10:43598054 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3093C>T (p.Asp1031=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325342]|Multiple endocrine neoplasia, type 2 [RCV001078589]|not provided [RCV000679743] Chr10:43126628 [GRCh38]
Chr10:43622076 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.860G>A (p.Arg287Gln) single nucleotide variant Aganglionic megacolon [RCV000678744] Chr10:43105186 [GRCh38]
Chr10:43600634 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.950C>T (p.Thr317Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003380690]|Hirschsprung disease, susceptibility to, 1 [RCV003460970]|Multiple endocrine neoplasia, type 2 [RCV000701617]|RET-related condition [RCV003420247] Chr10:43106458 [GRCh38]
Chr10:43601906 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2087C>T (p.Ser696Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003352996]|Multiple endocrine neoplasia, type 2 [RCV000702723] Chr10:43114687 [GRCh38]
Chr10:43610135 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.398G>A (p.Arg133His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021592]|Hirschsprung disease, susceptibility to, 1 [RCV002485619]|Multiple endocrine neoplasia, type 2 [RCV000688498]|not specified [RCV002469258] Chr10:43102402 [GRCh38]
Chr10:43597850 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.999C>G (p.His333Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372820]|Multiple endocrine neoplasia, type 2 [RCV000699370] Chr10:43106507 [GRCh38]
Chr10:43601955 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.805G>C (p.Ala269Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000685667] Chr10:43105131 [GRCh38]
Chr10:43600579 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3280A>C (p.Ser1094Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442438]|Multiple endocrine neoplasia, type 2 [RCV000689814] Chr10:43128204 [GRCh38]
Chr10:43623652 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1904G>T (p.Arg635Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000692880] Chr10:43114504 [GRCh38]
Chr10:43609952 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1573C>G (p.Arg525Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012215]|Hirschsprung disease, susceptibility to, 1 [RCV003459690]|Multiple endocrine neoplasia, type 2 [RCV000692964]|not provided [RCV002261180] Chr10:43112149 [GRCh38]
Chr10:43607597 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1487C>T (p.Ala496Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000708752]|Multiple endocrine neoplasia, type 2 [RCV000810164] Chr10:43111430 [GRCh38]
Chr10:43606878 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.182A>C (p.Glu61Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000708753]|Multiple endocrine neoplasia, type 2 [RCV002532885] Chr10:43100567 [GRCh38]
Chr10:43596015 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2162G>A (p.Arg721Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000708757]|Hirschsprung disease, susceptibility to, 1 [RCV002485780]|Hirschsprung disease, susceptibility to, 1 [RCV003460990]|Multiple endocrine neoplasia, type 2 [RCV001205883]|not provided [RCV001545206] Chr10:43116609 [GRCh38]
Chr10:43612057 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3079C>G (p.Leu1027Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000708759]|Multiple endocrine neoplasia, type 2 [RCV001226185] Chr10:43126614 [GRCh38]
Chr10:43622062 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.428C>T (p.Ala143Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332518]|Multiple endocrine neoplasia, type 2 [RCV002532889]|Multiple endocrine neoplasia, type 2a [RCV000709101] Chr10:43102432 [GRCh38]
Chr10:43597880 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.652C>T (p.Pro218Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360840]|Hirschsprung disease, susceptibility to, 1 [RCV002477638]|Multiple endocrine neoplasia, type 2 [RCV001052830]|Multiple endocrine neoplasia, type 2a [RCV000709103] Chr10:43104978 [GRCh38]
Chr10:43600426 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1183G>C (p.Val395Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332519]|Multiple endocrine neoplasia, type 2 [RCV001233523]|Multiple endocrine neoplasia, type 2a [RCV000709107]|Pheochromocytoma [RCV003403639]|not provided [RCV003235370] Chr10:43109150 [GRCh38]
Chr10:43604598 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1377G>T (p.Glu459Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001231838]|Multiple endocrine neoplasia, type 2a [RCV000709108] Chr10:43111320 [GRCh38]
Chr10:43606768 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2834T>C (p.Val945Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001319503]|Multiple endocrine neoplasia, type 2a [RCV000709124] Chr10:43123703 [GRCh38]
Chr10:43619151 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1094C>T (p.Ser365Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017260]|Hirschsprung disease, susceptibility to, 1 [RCV003459671]|Multiple endocrine neoplasia, type 2 [RCV000687406]|not provided [RCV003442020] Chr10:43109061 [GRCh38]
Chr10:43604509 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.433G>A (p.Val145Ile) single nucleotide variant Congenital central hypoventilation [RCV000764893]|Hereditary cancer-predisposing syndrome [RCV002332452]|Multiple endocrine neoplasia, type 2 [RCV000695077]|not provided [RCV001269771] Chr10:43102437 [GRCh38]
Chr10:43597885 [GRCh37]
Chr10:10q11.21
likely pathogenic|uncertain significance
NM_020975.6(RET):c.224C>T (p.Thr75Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014923]|Multiple endocrine neoplasia, type 2 [RCV000690605]|Ovarian cancer [RCV003153803]|not provided [RCV001662755] Chr10:43100609 [GRCh38]
Chr10:43596057 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.1423C>T (p.Arg475Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011519]|Hirschsprung disease, susceptibility to, 1 [RCV002499241]|Multiple endocrine neoplasia, type 2 [RCV000693492]|Multiple endocrine neoplasia, type 2a [RCV000709109]|not provided [RCV003159152] Chr10:43111366 [GRCh38]
Chr10:43606814 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2264T>C (p.Val755Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000702304] Chr10:43116711 [GRCh38]
Chr10:43612159 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3152C>T (p.Ala1051Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000688272] Chr10:43126687 [GRCh38]
Chr10:43622135 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1450A>G (p.Met484Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388321]|Multiple endocrine neoplasia, type 2 [RCV000702631] Chr10:43111393 [GRCh38]
Chr10:43606841 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1547C>G (p.Pro516Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397394]|Hirschsprung disease, susceptibility to, 1 [RCV002485643]|Multiple endocrine neoplasia, type 2 [RCV000691033]|not provided [RCV003148828] Chr10:43112123 [GRCh38]
Chr10:43607571 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.484C>T (p.Pro162Ser) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001103793]|Multiple endocrine neoplasia [RCV001103794]|Multiple endocrine neoplasia, type 2 [RCV000688770]|Pheochromocytoma [RCV001103791]|Renal hypodysplasia/aplasia 1 [RCV001103792] Chr10:43102488 [GRCh38]
Chr10:43597936 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.47T>A (p.Leu16Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003163176]|Hirschsprung disease, susceptibility to, 1 [RCV003465590]|Multiple endocrine neoplasia, type 2 [RCV000694092] Chr10:43077305 [GRCh38]
Chr10:43572753 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1973A>G (p.His658Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422542]|Multiple endocrine neoplasia, type 2 [RCV000697806] Chr10:43114573 [GRCh38]
Chr10:43610021 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.826G>T (p.Val276Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027347]|Hirschsprung disease, susceptibility to, 1 [RCV003460961]|Multiple endocrine neoplasia, type 2 [RCV000699501] Chr10:43105152 [GRCh38]
Chr10:43600600 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3154C>G (p.Leu1052Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000686589] Chr10:43126689 [GRCh38]
Chr10:43622137 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.43_51del (p.Leu17_Leu19del) deletion Hereditary cancer-predisposing syndrome [RCV002332497]|Multiple endocrine neoplasia, type 2 [RCV000703975] Chr10:43077295..43077303 [GRCh38]
Chr10:43572743..43572751 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1682G>C (p.Ser561Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000692592] Chr10:43112886 [GRCh38]
Chr10:43608334 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.754G>A (p.Glu252Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026552]|Multiple endocrine neoplasia, type 2 [RCV000706652] Chr10:43105080 [GRCh38]
Chr10:43600528 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.765G>T (p.Met255Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000708760] Chr10:43105091 [GRCh38]
Chr10:43600539 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.7A>G (p.Lys3Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000708761]|Multiple endocrine neoplasia, type 2 [RCV001213441] Chr10:43077265 [GRCh38]
Chr10:43572713 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2129A>G (p.Lys710Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000708756]|Hirschsprung disease, susceptibility to, 1 [RCV001104668]|Hirschsprung disease, susceptibility to, 1 [RCV002499266]|Multiple endocrine neoplasia [RCV001104665]|Multiple endocrine neoplasia, type 2 [RCV000703840]|Multiple endocrine neoplasia, type 2a [RCV000709118]|Pheochromocytoma [RCV001104666]|Renal hypodysplasia/aplasia 1 [RCV001104667] Chr10:43114729 [GRCh38]
Chr10:43610177 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1466A>T (p.Asp489Val) single nucleotide variant Multiple endocrine neoplasia, type 2a [RCV000709112] Chr10:43111409 [GRCh38]
Chr10:43606857 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3094G>A (p.Gly1032Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018566]|Hirschsprung disease, susceptibility to, 1 [RCV003460986]|Multiple endocrine neoplasia, type 2 [RCV000706711]|not provided [RCV003238196] Chr10:43126629 [GRCh38]
Chr10:43622077 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3187G>C (p.Gly1063Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000692782] Chr10:43126722 [GRCh38]
Chr10:43622170 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3060_3062del (p.Ser1021del) deletion Multiple endocrine neoplasia, type 2 [RCV000704533] Chr10:43126594..43126596 [GRCh38]
Chr10:43622042..43622044 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3056C>T (p.Ala1019Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018353]|Multiple endocrine neoplasia, type 2 [RCV000693322]|not provided [RCV003420231] Chr10:43126591 [GRCh38]
Chr10:43622039 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3196G>C (p.Asp1066His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000695357] Chr10:43128120 [GRCh38]
Chr10:43623568 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1734C>G (p.Ile578Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000690806] Chr10:43112938 [GRCh38]
Chr10:43608386 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2931C>T (p.Ser977=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440521]|Multiple endocrine neoplasia, type 2 [RCV000702919] Chr10:43123800 [GRCh38]
Chr10:43619248 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3157C>A (p.Pro1053Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003362895]|Multiple endocrine neoplasia, type 2 [RCV000690718] Chr10:43126692 [GRCh38]
Chr10:43622140 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1484A>G (p.Gln495Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388340]|Multiple endocrine neoplasia, type 2 [RCV000705140] Chr10:43111427 [GRCh38]
Chr10:43606875 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3271C>A (p.Pro1091Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000693763] Chr10:43128195 [GRCh38]
Chr10:43623643 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2413G>C (p.Glu805Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000688750] Chr10:43119551 [GRCh38]
Chr10:43614999 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2476T>C (p.Tyr826His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000691161] Chr10:43119614 [GRCh38]
Chr10:43615062 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3256G>A (p.Gly1086Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325368]|Multiple endocrine neoplasia, type 2 [RCV000688843] Chr10:43128180 [GRCh38]
Chr10:43623628 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.745G>A (p.Ala249Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388231]|Multiple endocrine neoplasia, type 2 [RCV000691219] Chr10:43105071 [GRCh38]
Chr10:43600519 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3027G>A (p.Met1009Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256469]|Hirschsprung disease, susceptibility to, 1 [RCV003459686]|Multiple endocrine neoplasia, type 2 [RCV000691243] Chr10:43124970 [GRCh38]
Chr10:43620418 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2182A>G (p.Lys728Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424623]|Hirschsprung disease, susceptibility to, 1 [RCV002485646]|Multiple endocrine neoplasia, type 2 [RCV000691463] Chr10:43116629 [GRCh38]
Chr10:43612077 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2071G>C (p.Gly691Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422601]|Multiple endocrine neoplasia, type 2 [RCV000705637] Chr10:43114671 [GRCh38]
Chr10:43610119 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2755G>C (p.Ala919Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440539]|Hirschsprung disease, susceptibility to, 1 [RCV002485764]|Multiple endocrine neoplasia, type 2 [RCV000705686]|RET-related condition [RCV003403635] Chr10:43121970 [GRCh38]
Chr10:43617418 [GRCh37]
Chr10:10q11.21
likely pathogenic|uncertain significance
NM_020975.6(RET):c.3050A>G (p.Asp1017Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000700195] Chr10:43126585 [GRCh38]
Chr10:43622033 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.638C>G (p.Pro213Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000698496] Chr10:43104964 [GRCh38]
Chr10:43600412 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.266A>G (p.Gln89Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016258]|Multiple endocrine neoplasia, type 2 [RCV000691693] Chr10:43100651 [GRCh38]
Chr10:43596099 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1277G>A (p.Cys426Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010710]|Hirschsprung disease, susceptibility to, 1 [RCV003465581]|Multiple endocrine neoplasia, type 2 [RCV000691749]|not specified [RCV002307593] Chr10:43111220 [GRCh38]
Chr10:43606668 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2599G>A (p.Glu867Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016056]|Multiple endocrine neoplasia, type 2 [RCV000696801] Chr10:43119737 [GRCh38]
Chr10:43615185 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1264-6C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000703490] Chr10:43111201 [GRCh38]
Chr10:43606649 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2284+46G>C single nucleotide variant not provided [RCV001566392] Chr10:43116777 [GRCh38]
Chr10:43612225 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.3187+6dup duplication Multiple endocrine neoplasia, type 2 [RCV001412291] Chr10:43126726..43126727 [GRCh38]
Chr10:43622174..43622175 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2607+9A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000806096] Chr10:43119754 [GRCh38]
Chr10:43615202 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.826G>A (p.Val276Ile) single nucleotide variant not provided [RCV001531056] Chr10:43105152 [GRCh38]
Chr10:43600600 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.111G>A (p.Trp37Ter) single nucleotide variant Aganglionic megacolon [RCV000736270] Chr10:43100496 [GRCh38]
Chr10:43595944 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.440T>C (p.Phe147Ser) single nucleotide variant Aganglionic megacolon [RCV000736272] Chr10:43102444 [GRCh38]
Chr10:43597892 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.604G>C (p.Val202Leu) single nucleotide variant Aganglionic megacolon [RCV000736273] Chr10:43102608 [GRCh38]
Chr10:43598056 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.2437C>T (p.Arg813Trp) single nucleotide variant Aganglionic megacolon [RCV000736277]|Multiple endocrine neoplasia, type 2 [RCV001855849] Chr10:43119575 [GRCh38]
Chr10:43615023 [GRCh37]
Chr10:10q11.21
likely pathogenic|uncertain significance
NM_020975.6(RET):c.2865dup (p.Pro956fs) duplication Aganglionic megacolon [RCV000736278]|Multiple endocrine neoplasia, type 2 [RCV003532254]|not provided [RCV003324791] Chr10:43123732..43123733 [GRCh38]
Chr10:43619180..43619181 [GRCh37]
Chr10:10q11.21
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q11.21(chr10:43439353-43680587)x3 copy number gain not provided [RCV000749579] Chr10:43439353..43680587 [GRCh37]
Chr10:10q11.21
benign
GRCh37/hg19 10q11.21(chr10:43451430-43630564)x3 copy number gain not provided [RCV000749580] Chr10:43451430..43630564 [GRCh37]
Chr10:10q11.21
benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_020975.6(RET):c.957C>G (p.Leu319=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382203]|not provided [RCV000976926] Chr10:43106465 [GRCh38]
Chr10:43601913 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.626-7T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000871775] Chr10:43104945 [GRCh38]
Chr10:43600393 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.1413G>A (p.Lys471=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307738]|Multiple endocrine neoplasia, type 2 [RCV001431479] Chr10:43111356 [GRCh38]
Chr10:43606804 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1064-89A>T single nucleotide variant not provided [RCV001690457] Chr10:43108942 [GRCh38]
Chr10:43604390 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.1656C>A (p.Thr552=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400078]|Multiple endocrine neoplasia, type 2 [RCV000941222] Chr10:43112860 [GRCh38]
Chr10:43608308 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+9494A>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001515286]|not provided [RCV000860559] Chr10:43086825 [GRCh38]
Chr10:43582273 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2285-85G>A single nucleotide variant not provided [RCV001612820] Chr10:43118288 [GRCh38]
Chr10:43613736 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.1648+10G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000897128]|not specified [RCV001818722] Chr10:43112234 [GRCh38]
Chr10:43607682 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2784C>T (p.Tyr928=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434147]|Multiple endocrine neoplasia, type 2 [RCV001470089] Chr10:43121999 [GRCh38]
Chr10:43617447 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1264-5C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414269]|Hirschsprung disease, susceptibility to, 1 [RCV002488386]|Multiple endocrine neoplasia, type 2 [RCV001866004]|not provided [RCV001566899] Chr10:43111202 [GRCh38]
Chr10:43606650 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.73+9331A>G single nucleotide variant not provided [RCV001612049] Chr10:43086662 [GRCh38]
Chr10:43582110 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.73+172A>C single nucleotide variant not provided [RCV001647973] Chr10:43077503 [GRCh38]
Chr10:43572951 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.868-265G>A single nucleotide variant not provided [RCV001708488] Chr10:43106111 [GRCh38]
Chr10:43601559 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.202C>T (p.Leu68=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416192]|Multiple endocrine neoplasia, type 2 [RCV000938652] Chr10:43100587 [GRCh38]
Chr10:43596035 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1284A>G (p.Glu428=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382149]|Multiple endocrine neoplasia, type 2 [RCV000940023] Chr10:43111227 [GRCh38]
Chr10:43606675 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1202G>A (p.Ser401Asn) single nucleotide variant Ependymoma [RCV000761047] Chr10:43109169 [GRCh38]
Chr10:43604617 [GRCh37]
Chr10:10q11.21
uncertain significance
GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3 copy number gain not provided [RCV000762700] Chr10:37149872..46169876 [GRCh37]
Chr10:10p11.21-q11.22
likely pathogenic
NM_020975.6(RET):c.1264-3del deletion Hereditary cancer-predisposing syndrome [RCV002445355]|Multiple endocrine neoplasia, type 2 [RCV001068463] Chr10:43111204 [GRCh38]
Chr10:43606652 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1013C>A (p.Thr338Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001065905] Chr10:43106521 [GRCh38]
Chr10:43601969 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.626-151G>A single nucleotide variant not provided [RCV001577305] Chr10:43104801 [GRCh38]
Chr10:43600249 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3184T>C (p.Tyr1062His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019049]|Hirschsprung disease, susceptibility to, 1 [RCV002479216]|Multiple endocrine neoplasia, type 2 [RCV001247987]|RET-related condition [RCV003962995] Chr10:43126719 [GRCh38]
Chr10:43622167 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1249C>T (p.Arg417Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400260]|Multiple endocrine neoplasia, type 2 [RCV001045751] Chr10:43109216 [GRCh38]
Chr10:43604664 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1263+57del deletion not provided [RCV001567094] Chr10:43109283 [GRCh38]
Chr10:43604731 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1996_2001del (p.Lys666_Pro667del) deletion Multiple endocrine neoplasia, type 2 [RCV001067241] Chr10:43114596..43114601 [GRCh38]
Chr10:43610044..43610049 [GRCh37]
Chr10:10q11.21
uncertain significance
NC_000010.11:g.(?_43118363)_(43128277_?)dup duplication Multiple endocrine neoplasia, type 2 [RCV001031171] Chr10:43613811..43623725 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.73+53G>A single nucleotide variant Multiple endocrine neoplasia, type 2a [RCV002466688]|not provided [RCV001609513] Chr10:43077384 [GRCh38]
Chr10:43572832 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.1522+7G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000981623] Chr10:43111472 [GRCh38]
Chr10:43606920 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1125G>T (p.Leu375=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001469361] Chr10:43109092 [GRCh38]
Chr10:43604540 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2262G>C (p.Thr754=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445101]|Multiple endocrine neoplasia, type 2 [RCV001436292] Chr10:43116709 [GRCh38]
Chr10:43612157 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.231C>T (p.Arg77=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169207]|Multiple endocrine neoplasia, type 2 [RCV000877521]|RET-related condition [RCV003895388] Chr10:43100616 [GRCh38]
Chr10:43596064 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2136+9C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000876638]|RET-related condition [RCV003895378] Chr10:43114745 [GRCh38]
Chr10:43610193 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.798C>T (p.Asp266=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001470586] Chr10:43105124 [GRCh38]
Chr10:43600572 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1314C>T (p.Val438=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001456933] Chr10:43111257 [GRCh38]
Chr10:43606705 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2589G>A (p.Gln863=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016028]|Multiple endocrine neoplasia, type 2 [RCV000867547] Chr10:43119727 [GRCh38]
Chr10:43615175 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+9del deletion Multiple endocrine neoplasia, type 2 [RCV000975473] Chr10:43077340 [GRCh38]
Chr10:43572788 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2340G>A (p.Lys780=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001416650] Chr10:43118428 [GRCh38]
Chr10:43613876 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.846G>A (p.Val282=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017852]|Multiple endocrine neoplasia, type 2 [RCV000866907] Chr10:43105172 [GRCh38]
Chr10:43600620 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.74-7C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001474689] Chr10:43100452 [GRCh38]
Chr10:43595900 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2214G>A (p.Val738=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014814]|Multiple endocrine neoplasia, type 2 [RCV000864947] Chr10:43116661 [GRCh38]
Chr10:43612109 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.118C>T (p.Leu40=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010234]|Multiple endocrine neoplasia, type 2 [RCV000867859] Chr10:43100503 [GRCh38]
Chr10:43595951 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2089C>T (p.Leu697=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416009]|Hirschsprung disease, susceptibility to, 1 [RCV002501251]|Multiple endocrine neoplasia, type 2 [RCV000865755] Chr10:43114689 [GRCh38]
Chr10:43610137 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.87C>G (p.Leu29=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001465855] Chr10:43100472 [GRCh38]
Chr10:43595920 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1359G>C (p.Gly453=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001411389] Chr10:43111302 [GRCh38]
Chr10:43606750 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1590G>A (p.Glu530=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400132]|Multiple endocrine neoplasia, type 2 [RCV000976233] Chr10:43112166 [GRCh38]
Chr10:43607614 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.843C>G (p.Ala281=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445027]|Multiple endocrine neoplasia, type 2 [RCV000921936] Chr10:43105169 [GRCh38]
Chr10:43600617 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1038C>T (p.Phe346=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169211]|Multiple endocrine neoplasia, type 2 [RCV000877679] Chr10:43106546 [GRCh38]
Chr10:43601994 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.819C>G (p.Pro273=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427232]|Multiple endocrine neoplasia, type 2 [RCV000877701] Chr10:43105145 [GRCh38]
Chr10:43600593 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.6G>A (p.Ala2=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363466]|Multiple endocrine neoplasia, type 2 [RCV000946319] Chr10:43077264 [GRCh38]
Chr10:43572712 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1713T>C (p.Asp571=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012818]|Multiple endocrine neoplasia, type 2 [RCV001408628] Chr10:43112917 [GRCh38]
Chr10:43608365 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.702G>A (p.Arg234=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372669]|Multiple endocrine neoplasia, type 2 [RCV000966647] Chr10:43105028 [GRCh38]
Chr10:43600476 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1311C>T (p.Asn437=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381949]|Hirschsprung disease, susceptibility to, 1 [RCV002495277]|Multiple endocrine neoplasia, type 2 [RCV001485557] Chr10:43111254 [GRCh38]
Chr10:43606702 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1649-7T>C single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002495279]|Multiple endocrine neoplasia, type 2 [RCV000868071] Chr10:43112846 [GRCh38]
Chr10:43608294 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3141C>G (p.Pro1047=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018791]|Multiple endocrine neoplasia, type 2 [RCV002068644]|RET-related condition [RCV003968254] Chr10:43126676 [GRCh38]
Chr10:43622124 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3135T>C (p.Asn1045=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320079]|Multiple endocrine neoplasia, type 2 [RCV001406432]|RET-related condition [RCV003950640] Chr10:43126670 [GRCh38]
Chr10:43622118 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1648+7C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000944659] Chr10:43112231 [GRCh38]
Chr10:43607679 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.44TGC[3] (p.Leu18_Leu19del) microsatellite Hereditary cancer-predisposing syndrome [RCV002346246]|Multiple endocrine neoplasia, type 2 [RCV001036920] Chr10:43077302..43077307 [GRCh38]
Chr10:43572750..43572755 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.770C>T (p.Pro257Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400292]|Multiple endocrine neoplasia, type 2 [RCV001051365] Chr10:43105096 [GRCh38]
Chr10:43600544 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1588G>C (p.Glu530Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160493]|Multiple endocrine neoplasia, type 2 [RCV001061381] Chr10:43112164 [GRCh38]
Chr10:43607612 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.817C>A (p.Pro273Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001070943] Chr10:43105143 [GRCh38]
Chr10:43600591 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2344G>T (p.Val782Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001035023] Chr10:43118432 [GRCh38]
Chr10:43613880 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2476T>A (p.Tyr826Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445230]|Multiple endocrine neoplasia, type 2 [RCV001041046] Chr10:43119614 [GRCh38]
Chr10:43615062 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3184T>G (p.Tyr1062Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001035162] Chr10:43126719 [GRCh38]
Chr10:43622167 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.829G>A (p.Asp277Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429697]|Multiple endocrine neoplasia, type 2 [RCV001062347] Chr10:43105155 [GRCh38]
Chr10:43600603 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2143C>A (p.Pro715Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001062412] Chr10:43116590 [GRCh38]
Chr10:43612038 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1646A>G (p.Lys549Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001071173] Chr10:43112222 [GRCh38]
Chr10:43607670 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1631G>A (p.Arg544Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001041490] Chr10:43112207 [GRCh38]
Chr10:43607655 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.356T>G (p.Leu119Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020639] Chr10:43102360 [GRCh38]
Chr10:43597808 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.209A>G (p.Gln70Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418538]|Multiple endocrine neoplasia, type 2 [RCV001065318]|not provided [RCV003130145] Chr10:43100594 [GRCh38]
Chr10:43596042 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.443C>T (p.Ser148Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327337]|Hirschsprung disease, susceptibility to, 1 [RCV002482060]|Multiple endocrine neoplasia, type 2 [RCV001061910] Chr10:43102447 [GRCh38]
Chr10:43597895 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1264-196G>A single nucleotide variant not provided [RCV001581848] Chr10:43111011 [GRCh38]
Chr10:43606459 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3175A>G (p.Asn1059Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001053346] Chr10:43126710 [GRCh38]
Chr10:43622158 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.14C>G (p.Thr5Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001042075] Chr10:43077272 [GRCh38]
Chr10:43572720 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.183G>C (p.Glu61Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001059043] Chr10:43100568 [GRCh38]
Chr10:43596016 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.473G>A (p.Ser158Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339211]|Multiple endocrine neoplasia, type 2 [RCV001042438]|Multiple endocrine neoplasia, type 2a [RCV002291711] Chr10:43102477 [GRCh38]
Chr10:43597925 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.820G>A (p.Ala274Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001042523] Chr10:43105146 [GRCh38]
Chr10:43600594 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1440A>T (p.Glu480Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393238]|Hirschsprung disease, susceptibility to, 1 [RCV003462539]|Multiple endocrine neoplasia, type 2 [RCV001048411] Chr10:43111383 [GRCh38]
Chr10:43606831 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1370C>T (p.Ser457Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001059825] Chr10:43111313 [GRCh38]
Chr10:43606761 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1688A>G (p.Lys563Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001048528] Chr10:43112892 [GRCh38]
Chr10:43608340 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2629G>C (p.Ala877Pro) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001089963] Chr10:43120102 [GRCh38]
Chr10:43615550 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.1513G>A (p.Glu505Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001057648] Chr10:43111456 [GRCh38]
Chr10:43606904 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.991G>T (p.Val331Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002379492]|Multiple endocrine neoplasia, type 2 [RCV001038634] Chr10:43106499 [GRCh38]
Chr10:43601947 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2014G>T (p.Ala672Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001040301] Chr10:43114614 [GRCh38]
Chr10:43610062 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1264-10G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002481879]|Multiple endocrine neoplasia, type 2 [RCV001040346] Chr10:43111197 [GRCh38]
Chr10:43606645 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1256T>A (p.Phe419Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000806990] Chr10:43109223 [GRCh38]
Chr10:43604671 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1546C>A (p.Pro516Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000807412] Chr10:43112122 [GRCh38]
Chr10:43607570 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1139A>C (p.Asp380Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000807583] Chr10:43109106 [GRCh38]
Chr10:43604554 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2198G>A (p.Gly733Asp) single nucleotide variant not specified [RCV000781812] Chr10:43116645 [GRCh38]
Chr10:43612093 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.792C>G (p.Asp264Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002298770]|not specified [RCV000781814] Chr10:43105118 [GRCh38]
Chr10:43600566 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1327C>T (p.His443Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381795]|Multiple endocrine neoplasia, type 2 [RCV000809124] Chr10:43111270 [GRCh38]
Chr10:43606718 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1406A>G (p.Asp469Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000806081] Chr10:43111349 [GRCh38]
Chr10:43606797 [GRCh37]
Chr10:10q11.21
uncertain significance
NC_000010.10:g.(?_43572697)_(43623727_?)dup duplication Multiple endocrine neoplasia, type 2 [RCV000820581] Chr10:43077249..43128279 [GRCh38]
Chr10:43572697..43623727 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.927G>A (p.Glu309=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000919767] Chr10:43106435 [GRCh38]
Chr10:43601883 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2388G>A (p.Gln796=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454094]|Multiple endocrine neoplasia, type 2 [RCV001488900] Chr10:43118476 [GRCh38]
Chr10:43613924 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.186G>A (p.Glu62=) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002495560]|Multiple endocrine neoplasia, type 2 [RCV001494338] Chr10:43100571 [GRCh38]
Chr10:43596019 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.952C>T (p.Leu318=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019465]|Multiple endocrine neoplasia, type 2 [RCV000939952]|not provided [RCV002264107] Chr10:43106460 [GRCh38]
Chr10:43601908 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.825C>T (p.Gly275=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427110]|Hirschsprung disease, susceptibility to, 1 [RCV002495241]|Multiple endocrine neoplasia, type 2 [RCV000864240]|not provided [RCV001531055] Chr10:43105151 [GRCh38]
Chr10:43600599 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.90C>T (p.Tyr30=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372918]|Multiple endocrine neoplasia, type 2 [RCV001425694] Chr10:43100475 [GRCh38]
Chr10:43595923 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1953G>C (p.Leu651=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001406047] Chr10:43114553 [GRCh38]
Chr10:43610001 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2397G>A (p.Pro799=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015402]|Multiple endocrine neoplasia, type 2 [RCV000878411] Chr10:43119535 [GRCh38]
Chr10:43614983 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2115C>T (p.Ser705=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415988]|Multiple endocrine neoplasia, type 2 [RCV000863364] Chr10:43114715 [GRCh38]
Chr10:43610163 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.625+10G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000870141]|not specified [RCV002235597] Chr10:43102639 [GRCh38]
Chr10:43598087 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2352C>T (p.His784=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445089]|Multiple endocrine neoplasia, type 2 [RCV001475136] Chr10:43118440 [GRCh38]
Chr10:43613888 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3102A>G (p.Ser1034=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320174]|Multiple endocrine neoplasia, type 2 [RCV000960363] Chr10:43126637 [GRCh38]
Chr10:43622085 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3321A>G (p.Lys1107=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320040]|Multiple endocrine neoplasia, type 2 [RCV001461653] Chr10:43128245 [GRCh38]
Chr10:43623693 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.789C>T (p.Tyr263=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000943945] Chr10:43105115 [GRCh38]
Chr10:43600563 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.816C>T (p.Phe272=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255552]|Multiple endocrine neoplasia, type 2 [RCV000865540] Chr10:43105142 [GRCh38]
Chr10:43600590 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1944C>T (p.Val648=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409186]|Multiple endocrine neoplasia, type 2 [RCV001480064] Chr10:43114544 [GRCh38]
Chr10:43609992 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.49C>T (p.Leu17=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336974]|Multiple endocrine neoplasia, type 2 [RCV000940811]|not provided [RCV003413741] Chr10:43077307 [GRCh38]
Chr10:43572755 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.933G>A (p.Val311=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000940863] Chr10:43106441 [GRCh38]
Chr10:43601889 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.834C>T (p.Thr278=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017591]|Multiple endocrine neoplasia, type 2 [RCV001451106] Chr10:43105160 [GRCh38]
Chr10:43600608 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2392+10G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001498502] Chr10:43118490 [GRCh38]
Chr10:43613938 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1063+10G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001428200] Chr10:43106581 [GRCh38]
Chr10:43602029 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2801+7G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000940994] Chr10:43122023 [GRCh38]
Chr10:43617471 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1770T>C (p.Ile590=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409264]|Multiple endocrine neoplasia, type 2 [RCV001472788] Chr10:43113566 [GRCh38]
Chr10:43609014 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1500G>T (p.Leu500=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001404250] Chr10:43111443 [GRCh38]
Chr10:43606891 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1523-5T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012003]|Multiple endocrine neoplasia, type 2 [RCV000872147]|not specified [RCV001817017] Chr10:43112094 [GRCh38]
Chr10:43607542 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2874G>A (p.Glu958=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169414]|Multiple endocrine neoplasia, type 2 [RCV001415355] Chr10:43123743 [GRCh38]
Chr10:43619191 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.174C>T (p.Asp58=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012975]|Multiple endocrine neoplasia, type 2 [RCV001431798] Chr10:43100559 [GRCh38]
Chr10:43596007 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.651C>T (p.Ala217=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363434]|Multiple endocrine neoplasia, type 2 [RCV001475126] Chr10:43104977 [GRCh38]
Chr10:43600425 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3123G>A (p.Val1041=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000875391]|RET-related condition [RCV003975476] Chr10:43126658 [GRCh38]
Chr10:43622106 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.333C>G (p.Val111=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020032]|Multiple endocrine neoplasia, type 2 [RCV000873696] Chr10:43100718 [GRCh38]
Chr10:43596166 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.947G>A (p.Ser316Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019396] Chr10:43106455 [GRCh38]
Chr10:43601903 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3294C>A (p.Asn1098Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019747]|Multiple endocrine neoplasia, type 2 [RCV001873321] Chr10:43128218 [GRCh38]
Chr10:43623666 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2392+159G>A single nucleotide variant not provided [RCV000837285] Chr10:43118639 [GRCh38]
Chr10:43614087 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2801+243G>C single nucleotide variant not provided [RCV000837308] Chr10:43122259 [GRCh38]
Chr10:43617707 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3204C>G (p.Asn1068Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019206] Chr10:43128128 [GRCh38]
Chr10:43623576 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1063A>T (p.Arg355Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372863]|Multiple endocrine neoplasia, type 2 [RCV000809507] Chr10:43106571 [GRCh38]
Chr10:43602019 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2066C>T (p.Ser689Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169037]|Multiple endocrine neoplasia, type 2 [RCV000822677] Chr10:43114666 [GRCh38]
Chr10:43610114 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1282G>A (p.Glu428Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010740]|Hirschsprung disease, susceptibility to, 1 [RCV003461279]|Multiple endocrine neoplasia, type 2 [RCV000822714] Chr10:43111225 [GRCh38]
Chr10:43606673 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1468C>A (p.Gln490Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000809745] Chr10:43111411 [GRCh38]
Chr10:43606859 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1749G>A (p.Gln583=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166328]|Multiple endocrine neoplasia, type 2 [RCV000813785] Chr10:43112953 [GRCh38]
Chr10:43608401 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2923A>T (p.Asn975Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434019]|Multiple endocrine neoplasia, type 2 [RCV000822805] Chr10:43123792 [GRCh38]
Chr10:43619240 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2243G>A (p.Gly748Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415922]|Multiple endocrine neoplasia, type 2 [RCV000819233] Chr10:43116690 [GRCh38]
Chr10:43612138 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.907G>A (p.Val303Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166333]|Multiple endocrine neoplasia, type 2 [RCV000814354] Chr10:43106415 [GRCh38]
Chr10:43601863 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1783G>T (p.Glu595Ter) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000814670] Chr10:43113579 [GRCh38]
Chr10:43609027 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1295_1296delinsAG (p.Ala432Glu) indel Hereditary cancer-predisposing syndrome [RCV002386403]|Multiple endocrine neoplasia, type 2 [RCV000797130] Chr10:43111238..43111239 [GRCh38]
Chr10:43606686..43606687 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1580A>C (p.Glu527Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000799518] Chr10:43112156 [GRCh38]
Chr10:43607604 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1343A>G (p.Asn448Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386436]|Multiple endocrine neoplasia, type 2 [RCV000802993] Chr10:43111286 [GRCh38]
Chr10:43606734 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.388A>G (p.Thr130Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000798358] Chr10:43102392 [GRCh38]
Chr10:43597840 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.714G>T (p.Glu238Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000798457] Chr10:43105040 [GRCh38]
Chr10:43600488 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.82G>A (p.Gly28Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424881]|Hirschsprung disease, susceptibility to, 1 [RCV002495105]|Multiple endocrine neoplasia, type 2 [RCV000807337]|not provided [RCV003148868] Chr10:43100467 [GRCh38]
Chr10:43595915 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.3052C>A (p.Leu1018Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000798782] Chr10:43126587 [GRCh38]
Chr10:43622035 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1985A>C (p.Lys662Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000799735] Chr10:43114585 [GRCh38]
Chr10:43610033 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2423A>C (p.Lys808Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442735]|Multiple endocrine neoplasia, type 2 [RCV000816192] Chr10:43119561 [GRCh38]
Chr10:43615009 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1533G>T (p.Glu511Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000801428] Chr10:43112109 [GRCh38]
Chr10:43607557 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3019A>G (p.Lys1007Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000817849] Chr10:43124962 [GRCh38]
Chr10:43620410 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.44TGC[6] (p.Leu19_Pro20insLeu) microsatellite Hereditary cancer-predisposing syndrome [RCV002345796]|Multiple endocrine neoplasia, type 2 [RCV000803187] Chr10:43077301..43077302 [GRCh38]
Chr10:43572749..43572750 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2183A>G (p.Lys728Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000799901] Chr10:43116630 [GRCh38]
Chr10:43612078 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.30G>T (p.Gly10=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000819741] Chr10:43077288 [GRCh38]
Chr10:43572736 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.867+7G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001396584] Chr10:43105200 [GRCh38]
Chr10:43600648 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+104C>T single nucleotide variant not provided [RCV000836364] Chr10:43077435 [GRCh38]
Chr10:43572883 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3188-1G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000824296] Chr10:43128111 [GRCh38]
Chr10:43623559 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.74-126G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001520523]|not provided [RCV000836532] Chr10:43100333 [GRCh38]
Chr10:43595781 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.867+223A>T single nucleotide variant not provided [RCV000836533] Chr10:43105416 [GRCh38]
Chr10:43600864 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.1759+111G>C single nucleotide variant not provided [RCV000836534] Chr10:43113074 [GRCh38]
Chr10:43608522 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2137-167T>C single nucleotide variant not provided [RCV000836535] Chr10:43116417 [GRCh38]
Chr10:43611865 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.701G>A (p.Arg234Gln) single nucleotide variant Familial medullary thyroid carcinoma [RCV001788362]|Hereditary cancer-predisposing syndrome [RCV002363147]|Hirschsprung disease, susceptibility to, 1 [RCV002495168]|Multiple endocrine neoplasia, type 2 [RCV000819920]|not provided [RCV003130074] Chr10:43105027 [GRCh38]
Chr10:43600475 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1063A>G (p.Arg355Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009795]|Multiple endocrine neoplasia, type 2 [RCV000824530] Chr10:43106571 [GRCh38]
Chr10:43602019 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2608-147C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002466593]|not provided [RCV000836540] Chr10:43119934 [GRCh38]
Chr10:43615382 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2940-197C>T single nucleotide variant not provided [RCV000836557] Chr10:43124686 [GRCh38]
Chr10:43620134 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.1649-187C>T single nucleotide variant not provided [RCV000836560] Chr10:43112666 [GRCh38]
Chr10:43608114 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2159C>T (p.Pro720Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000803670] Chr10:43116606 [GRCh38]
Chr10:43612054 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3040G>A (p.Asp1014Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442678]|Multiple endocrine neoplasia, type 2 [RCV000803728] Chr10:43126575 [GRCh38]
Chr10:43622023 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2491G>A (p.Gly831Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015690]|Multiple endocrine neoplasia, type 2 [RCV000800320] Chr10:43119629 [GRCh38]
Chr10:43615077 [GRCh37]
Chr10:10q11.21
uncertain significance
NC_000010.11:g.43118499T>C single nucleotide variant not provided [RCV000835063] Chr10:43613947 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2542A>T (p.Met848Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427048]|Multiple endocrine neoplasia, type 2 [RCV000820257] Chr10:43119680 [GRCh38]
Chr10:43615128 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.268G>T (p.Glu90Ter) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000796315] Chr10:43100653 [GRCh38]
Chr10:43596101 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1840G>A (p.Glu614Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406865]|Multiple endocrine neoplasia, type 2 [RCV000816994] Chr10:43113636 [GRCh38]
Chr10:43609084 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1222T>C (p.Tyr408His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000818596] Chr10:43109189 [GRCh38]
Chr10:43604637 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2483G>T (p.Gly828Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000818651] Chr10:43119621 [GRCh38]
Chr10:43615069 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.526A>T (p.Ile176Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000805758] Chr10:43102530 [GRCh38]
Chr10:43597978 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3339T>C (p.Asp1113=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020030]|Multiple endocrine neoplasia, type 2 [RCV001347101]|not provided [RCV000994381] Chr10:43128263 [GRCh38]
Chr10:43623711 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.625+139C>T single nucleotide variant not provided [RCV000839016] Chr10:43102768 [GRCh38]
Chr10:43598216 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1879+9G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001506306] Chr10:43113684 [GRCh38]
Chr10:43609132 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1294G>A (p.Ala432Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386382]|Multiple endocrine neoplasia, type 2 [RCV000792888] Chr10:43111237 [GRCh38]
Chr10:43606685 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1271A>G (p.Lys424Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370104]|Multiple endocrine neoplasia, type 2 [RCV000799163] Chr10:43111214 [GRCh38]
Chr10:43606662 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1990G>T (p.Ala664Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422793]|Multiple endocrine neoplasia, type 2 [RCV000812236] Chr10:43114590 [GRCh38]
Chr10:43610038 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1456G>T (p.Val486Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002390643]|Multiple endocrine neoplasia, type 2 [RCV000812410] Chr10:43111399 [GRCh38]
Chr10:43606847 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3076T>C (p.Ser1026Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166320]|Multiple endocrine neoplasia, type 2 [RCV000812870] Chr10:43126611 [GRCh38]
Chr10:43622059 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2802-9T>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000793856] Chr10:43123662 [GRCh38]
Chr10:43619110 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2438G>A (p.Arg813Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458436]|Multiple endocrine neoplasia, type 2 [RCV000796744]|RET-related condition [RCV003892713] Chr10:43119576 [GRCh38]
Chr10:43615024 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1421G>A (p.Arg474Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011510]|Multiple endocrine neoplasia, type 2 [RCV000800480] Chr10:43111364 [GRCh38]
Chr10:43606812 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.3176A>T (p.Asn1059Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000822898] Chr10:43126711 [GRCh38]
Chr10:43622159 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2090T>A (p.Leu697Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422766]|Multiple endocrine neoplasia, type 2 [RCV000806712] Chr10:43114690 [GRCh38]
Chr10:43610138 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2063C>T (p.Ser688Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422770]|Multiple endocrine neoplasia, type 2 [RCV000807201] Chr10:43114663 [GRCh38]
Chr10:43610111 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2973G>C (p.Glu991Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440777]|Multiple endocrine neoplasia, type 2 [RCV000813839] Chr10:43124916 [GRCh38]
Chr10:43620364 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.736C>T (p.His246Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000801424] Chr10:43105062 [GRCh38]
Chr10:43600510 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.337+247C>T single nucleotide variant not provided [RCV000836365] Chr10:43100969 [GRCh38]
Chr10:43596417 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1273G>T (p.Val425Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000818149] Chr10:43111216 [GRCh38]
Chr10:43606664 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.961G>T (p.Gly321Trp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000797916] Chr10:43106469 [GRCh38]
Chr10:43601917 [GRCh37]
Chr10:10q11.21
uncertain significance
NC_000010.11:g.43077063C>A single nucleotide variant not provided [RCV000836537] Chr10:43572511 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.337+137G>T single nucleotide variant not provided [RCV000836538] Chr10:43100859 [GRCh38]
Chr10:43596307 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.625+118A>G single nucleotide variant not provided [RCV000836539] Chr10:43102747 [GRCh38]
Chr10:43598195 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.391T>C (p.Ser131Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166245]|Multiple endocrine neoplasia, type 2 [RCV000805198] Chr10:43102395 [GRCh38]
Chr10:43597843 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.850G>A (p.Glu284Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000794386] Chr10:43105176 [GRCh38]
Chr10:43600624 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.638C>A (p.Pro213His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000798549] Chr10:43104964 [GRCh38]
Chr10:43600412 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1879+6T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000824643] Chr10:43113681 [GRCh38]
Chr10:43609129 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.16T>G (p.Ser6Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000811238] Chr10:43077274 [GRCh38]
Chr10:43572722 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2730+229T>C single nucleotide variant not provided [RCV000837313] Chr10:43120432 [GRCh38]
Chr10:43615880 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2731-227C>G single nucleotide variant not provided [RCV000837314] Chr10:43121719 [GRCh38]
Chr10:43617167 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.74-158G>T single nucleotide variant not provided [RCV000837405] Chr10:43100301 [GRCh38]
Chr10:43595749 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2209A>C (p.Lys737Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424906]|Hirschsprung disease, susceptibility to, 1 [RCV002487767]|Hirschsprung disease, susceptibility to, 1 [RCV003467454]|Multiple endocrine neoplasia, type 2 [RCV000811558]|RET-related condition [RCV003396421]|not provided [RCV003328632] Chr10:43116656 [GRCh38]
Chr10:43612104 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.22G>T (p.Ala8Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429602]|Multiple endocrine neoplasia, type 2 [RCV001044660] Chr10:43077280 [GRCh38]
Chr10:43572728 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2365A>G (p.Lys789Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453836]|Hirschsprung disease, susceptibility to, 1 [RCV002495126]|Hirschsprung disease, susceptibility to, 1 [RCV003461202]|Multiple endocrine neoplasia, type 2 [RCV000811746] Chr10:43118453 [GRCh38]
Chr10:43613901 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.423C>G (p.Gly141=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332591]|Multiple endocrine neoplasia, type 2 [RCV000793451] Chr10:43102427 [GRCh38]
Chr10:43597875 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1234G>A (p.Val412Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360916]|Multiple endocrine neoplasia, type 2 [RCV000793652] Chr10:43109201 [GRCh38]
Chr10:43604649 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1705C>T (p.His569Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001045116] Chr10:43112909 [GRCh38]
Chr10:43608357 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1879+1G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000825021]|Multiple endocrine neoplasia, type 2 [RCV003532285]|not provided [RCV003141864] Chr10:43113676 [GRCh38]
Chr10:43609124 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic
NM_020975.6(RET):c.2137-31del deletion Abnormal facial shape [RCV000782134] Chr10:43116553 [GRCh38]
Chr10:43612001 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2251G>A (p.Gly751Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000791895] Chr10:43116698 [GRCh38]
Chr10:43612146 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1188G>C (p.Ser396=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010228]|Multiple endocrine neoplasia, type 2 [RCV001488596] Chr10:43109155 [GRCh38]
Chr10:43604603 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.523C>G (p.Arg175Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002334475]|Multiple endocrine neoplasia, type 2 [RCV000794783] Chr10:43102527 [GRCh38]
Chr10:43597975 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.867+171A>T single nucleotide variant not provided [RCV000836341] Chr10:43105364 [GRCh38]
Chr10:43600812 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1863G>A (p.Glu621=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409110]|Multiple endocrine neoplasia, type 2 [RCV003768703] Chr10:43113659 [GRCh38]
Chr10:43609107 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1649-11G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002067484]|not provided [RCV000828500] Chr10:43112842 [GRCh38]
Chr10:43608290 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.338-201C>G single nucleotide variant not provided [RCV000836379] Chr10:43102141 [GRCh38]
Chr10:43597589 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.868-86A>G single nucleotide variant not provided [RCV000836380] Chr10:43106290 [GRCh38]
Chr10:43601738 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.314C>T (p.Ser105Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256519]|Multiple endocrine neoplasia, type 2 [RCV000802029] Chr10:43100699 [GRCh38]
Chr10:43596147 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.113A>T (p.Glu38Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000802041] Chr10:43100498 [GRCh38]
Chr10:43595946 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.306C>T (p.Asp102=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444958]|Multiple endocrine neoplasia, type 2 [RCV001482750]|not provided [RCV000875671] Chr10:43100691 [GRCh38]
Chr10:43596139 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.2801+8_2801+9del microsatellite Multiple endocrine neoplasia, type 2 [RCV000982181] Chr10:43122021..43122022 [GRCh38]
Chr10:43617469..43617470 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3170T>C (p.Ile1057Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002319914]|Multiple endocrine neoplasia, type 2 [RCV000822277] Chr10:43126705 [GRCh38]
Chr10:43622153 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1662C>T (p.Asn554=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001471130] Chr10:43112866 [GRCh38]
Chr10:43608314 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3077C>A (p.Ser1026Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000813028] Chr10:43126612 [GRCh38]
Chr10:43622060 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2412G>T (p.Val804=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001476045] Chr10:43119550 [GRCh38]
Chr10:43614998 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3011A>G (p.Asp1004Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000808074] Chr10:43124954 [GRCh38]
Chr10:43620402 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1879+7G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001468474] Chr10:43113682 [GRCh38]
Chr10:43609130 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2362A>G (p.Ile788Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000800262] Chr10:43118450 [GRCh38]
Chr10:43613898 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.626-6G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001437695] Chr10:43104946 [GRCh38]
Chr10:43600394 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3317C>G (p.Ala1106Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166279]|Multiple endocrine neoplasia, type 2 [RCV000808994] Chr10:43128241 [GRCh38]
Chr10:43623689 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1918G>A (p.Ala640Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000820405] Chr10:43114518 [GRCh38]
Chr10:43609966 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3021G>C (p.Lys1007Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018121]|Multiple endocrine neoplasia, type 2 [RCV000820560]|Ovarian cancer [RCV003153865]|not provided [RCV002469300] Chr10:43124964 [GRCh38]
Chr10:43620412 [GRCh37]
Chr10:10q11.21
likely pathogenic|uncertain significance
NM_020975.6(RET):c.3145C>T (p.Pro1049Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000814174] Chr10:43126680 [GRCh38]
Chr10:43622128 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2708A>G (p.Asp903Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433993]|Multiple endocrine neoplasia, type 2 [RCV000817327] Chr10:43120181 [GRCh38]
Chr10:43615629 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1063+145A>G single nucleotide variant not provided [RCV000839169] Chr10:43106716 [GRCh38]
Chr10:43602164 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2596G>A (p.Ala866Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434025]|Multiple endocrine neoplasia, type 2 [RCV000823545] Chr10:43119734 [GRCh38]
Chr10:43615182 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1681A>C (p.Ser561Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000823563] Chr10:43112885 [GRCh38]
Chr10:43608333 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1956G>A (p.Leu652=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416184]|Multiple endocrine neoplasia, type 2 [RCV001490120]|RET-related condition [RCV003903121] Chr10:43114556 [GRCh38]
Chr10:43610004 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1008C>G (p.Asn336Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009678]|Hirschsprung disease, susceptibility to, 1 [RCV003467473]|Multiple endocrine neoplasia, type 2 [RCV000814407] Chr10:43106516 [GRCh38]
Chr10:43601964 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.51G>A (p.Leu17=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336966]|Multiple endocrine neoplasia, type 2 [RCV001404229] Chr10:43077309 [GRCh38]
Chr10:43572757 [GRCh37]
Chr10:10q11.21
likely benign
NC_000010.11:g.(?_43100449)_(43102639_?)del deletion Multiple endocrine neoplasia, type 2 [RCV000809308] Chr10:43100449..43102639 [GRCh38]
Chr10:43595897..43598087 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.1469A>G (p.Gln490Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388457]|Multiple endocrine neoplasia, type 2 [RCV000798219] Chr10:43111412 [GRCh38]
Chr10:43606860 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.760G>A (p.Val254Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002390667]|Multiple endocrine neoplasia, type 2 [RCV000817701] Chr10:43105086 [GRCh38]
Chr10:43600534 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2571G>T (p.Gln857His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000823912]|RET-related condition [RCV003413660] Chr10:43119709 [GRCh38]
Chr10:43615157 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2710T>G (p.Ser904Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427074]|Hirschsprung disease, susceptibility to, 1 [RCV002478933]|Multiple endocrine neoplasia, type 2 [RCV000824078] Chr10:43120183 [GRCh38]
Chr10:43615631 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3182T>G (p.Leu1061Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320254]|Multiple endocrine neoplasia, type 2 [RCV001043065] Chr10:43126717 [GRCh38]
Chr10:43622165 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.123T>C (p.Tyr41=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001435462] Chr10:43100508 [GRCh38]
Chr10:43595956 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2469G>A (p.Gly823=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001503288] Chr10:43119607 [GRCh38]
Chr10:43615055 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3326T>G (p.Met1109Arg) single nucleotide variant not provided [RCV000994380] Chr10:43128250 [GRCh38]
Chr10:43623698 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.373G>A (p.Val125Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021014] Chr10:43102377 [GRCh38]
Chr10:43597825 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3289G>A (p.Ala1097Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019674] Chr10:43128213 [GRCh38]
Chr10:43623661 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1305C>T (p.Gly435=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001067361] Chr10:43111248 [GRCh38]
Chr10:43606696 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.467C>T (p.Ala156Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022883]|Multiple endocrine neoplasia, type 2 [RCV001862235] Chr10:43102471 [GRCh38]
Chr10:43597919 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.724G>A (p.Val242Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375304]|Multiple endocrine neoplasia, type 2 [RCV001248230] Chr10:43105050 [GRCh38]
Chr10:43600498 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.280C>G (p.Leu94Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001248449] Chr10:43100665 [GRCh38]
Chr10:43596113 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2528_2530dup (p.Glu843_Arg844insGln) duplication Multiple endocrine neoplasia, type 2 [RCV001046564] Chr10:43119665..43119666 [GRCh38]
Chr10:43615113..43615114 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1514A>T (p.Glu505Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393599]|Multiple endocrine neoplasia, type 2 [RCV001236477] Chr10:43111457 [GRCh38]
Chr10:43606905 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1003C>A (p.Pro335Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393589]|Multiple endocrine neoplasia, type 2 [RCV001234203] Chr10:43106511 [GRCh38]
Chr10:43601959 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1432T>C (p.Cys478Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001205858] Chr10:43111375 [GRCh38]
Chr10:43606823 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.68G>T (p.Gly23Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375209]|Multiple endocrine neoplasia, type 2 [RCV001222560] Chr10:43077326 [GRCh38]
Chr10:43572774 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.4(RET):c.2139_2141del microsatellite Multiple endocrine neoplasia, type 2 [RCV001239238] Chr10:43116582..43116584 [GRCh38]
Chr10:43612030..43612032 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2284+4C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003163714]|Multiple endocrine neoplasia, type 2 [RCV001222172] Chr10:43116735 [GRCh38]
Chr10:43612183 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2409C>A (p.Ile803=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447118]|Multiple endocrine neoplasia, type 2 [RCV001222173] Chr10:43119547 [GRCh38]
Chr10:43614995 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2218A>G (p.Lys740Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001233376] Chr10:43116665 [GRCh38]
Chr10:43612113 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.637C>T (p.Pro213Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001209403] Chr10:43104963 [GRCh38]
Chr10:43600411 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1888T>G (p.Cys630Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001231313] Chr10:43114488 [GRCh38]
Chr10:43609936 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1456G>A (p.Val486Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001222383] Chr10:43111399 [GRCh38]
Chr10:43606847 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1564A>T (p.Ser522Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001233606] Chr10:43112140 [GRCh38]
Chr10:43607588 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3177C>A (p.Asn1059Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322068]|Multiple endocrine neoplasia, type 2 [RCV001220997] Chr10:43126712 [GRCh38]
Chr10:43622160 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2053G>A (p.Val685Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418814]|Multiple endocrine neoplasia, type 2 [RCV001237204] Chr10:43114653 [GRCh38]
Chr10:43610101 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2975C>T (p.Pro992Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001237210] Chr10:43124918 [GRCh38]
Chr10:43620366 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.59C>A (p.Pro20Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356955]|Hirschsprung disease, susceptibility to, 1 [RCV002504291]|Multiple endocrine neoplasia, type 2 [RCV001224702]|not provided [RCV003442787] Chr10:43077317 [GRCh38]
Chr10:43572765 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1477T>C (p.Ser493Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393557]|Multiple endocrine neoplasia, type 2 [RCV001226835] Chr10:43111420 [GRCh38]
Chr10:43606868 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1480A>T (p.Arg494Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393558]|Multiple endocrine neoplasia, type 2 [RCV001226836] Chr10:43111423 [GRCh38]
Chr10:43606871 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2029C>T (p.Arg677Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418758]|Multiple endocrine neoplasia, type 2 [RCV001220566] Chr10:43114629 [GRCh38]
Chr10:43610077 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.980A>C (p.Gln327Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001217595] Chr10:43106488 [GRCh38]
Chr10:43601936 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1796C>A (p.Pro599His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001234772] Chr10:43113592 [GRCh38]
Chr10:43609040 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1239C>A (p.Ser413Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001237295] Chr10:43109206 [GRCh38]
Chr10:43604654 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.791A>G (p.Asp264Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001209440] Chr10:43105117 [GRCh38]
Chr10:43600565 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1783G>A (p.Glu595Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411888]|Hirschsprung disease, susceptibility to, 1 [RCV003469458]|Multiple endocrine neoplasia, type 2 [RCV001241198] Chr10:43113579 [GRCh38]
Chr10:43609027 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.626G>A (p.Gly209Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001206612] Chr10:43104952 [GRCh38]
Chr10:43600400 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.100G>T (p.Asp34Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436867]|Multiple endocrine neoplasia, type 2 [RCV001223565] Chr10:43100485 [GRCh38]
Chr10:43595933 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.644G>T (p.Arg215Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001235079] Chr10:43104970 [GRCh38]
Chr10:43600418 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2232C>G (p.Phe744Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429948]|Multiple endocrine neoplasia, type 2 [RCV001223653] Chr10:43116679 [GRCh38]
Chr10:43612127 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.931G>C (p.Val311Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001210026] Chr10:43106439 [GRCh38]
Chr10:43601887 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3332C>T (p.Thr1111Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322139]|Hirschsprung disease, susceptibility to, 1 [RCV003462806]|Multiple endocrine neoplasia, type 2 [RCV001238151]|not specified [RCV002246228] Chr10:43128256 [GRCh38]
Chr10:43623704 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.1111C>G (p.Gln371Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001214845] Chr10:43109078 [GRCh38]
Chr10:43604526 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.645C>G (p.Arg215=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001222000] Chr10:43104971 [GRCh38]
Chr10:43600419 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.614G>A (p.Arg205Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001241721] Chr10:43102618 [GRCh38]
Chr10:43598066 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2176C>T (p.Leu726Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001225969] Chr10:43116623 [GRCh38]
Chr10:43612071 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3300G>C (p.Met1100Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003284112]|Multiple endocrine neoplasia, type 2 [RCV001242196] Chr10:43128224 [GRCh38]
Chr10:43623672 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.103G>A (p.Ala35Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001226598] Chr10:43100488 [GRCh38]
Chr10:43595936 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1895A>T (p.Glu632Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001211787] Chr10:43114495 [GRCh38]
Chr10:43609943 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2078G>A (p.Arg693His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418797]|Hirschsprung disease, susceptibility to, 1 [RCV002491748]|Multiple endocrine neoplasia, type 2 [RCV001232485]|not specified [RCV003387978] Chr10:43114678 [GRCh38]
Chr10:43610126 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1658G>A (p.Arg553Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001235840] Chr10:43112862 [GRCh38]
Chr10:43608310 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2116G>T (p.Val706Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001241880] Chr10:43114716 [GRCh38]
Chr10:43610164 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1162G>T (p.Val388Phe) single nucleotide variant Multiple endocrine neoplasia, type 2b [RCV001197610] Chr10:43109129 [GRCh38]
Chr10:43604577 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2778T>G (p.His926Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166398]|Multiple endocrine neoplasia, type 2 [RCV001229882] Chr10:43121993 [GRCh38]
Chr10:43617441 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1995C>A (p.His665Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001204505]|not provided [RCV003238316] Chr10:43114595 [GRCh38]
Chr10:43610043 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.712G>T (p.Glu238Ter) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000853339] Chr10:43105038 [GRCh38]
Chr10:43600486 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.860G>T (p.Arg287Leu) single nucleotide variant Aganglionic megacolon [RCV000853370] Chr10:43105186 [GRCh38]
Chr10:43600634 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.2304_2307delinsCCTT (p.Glu768Asp) indel Multiple endocrine neoplasia, type 2a [RCV003316935] Chr10:43118392..43118395 [GRCh38]
Chr10:43613840..43613843 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.867+4C>G single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001106953]|Multiple endocrine neoplasia [RCV001104182]|Pheochromocytoma [RCV001104181]|Renal hypodysplasia/aplasia 1 [RCV001104183] Chr10:43105197 [GRCh38]
Chr10:43600645 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2631del (p.Arg878fs) deletion Multiple endocrine neoplasia, type 2b [RCV001199205] Chr10:43120103 [GRCh38]
Chr10:43615551 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.398G>C (p.Arg133Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021593]|Multiple endocrine neoplasia, type 2 [RCV001340144] Chr10:43102402 [GRCh38]
Chr10:43597850 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1886T>G single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001106585]|Multiple endocrine neoplasia [RCV001106586]|Pheochromocytoma [RCV001105444]|Renal hypodysplasia/aplasia 1 [RCV001105443] Chr10:43130155 [GRCh38]
Chr10:43625603 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.430C>T (p.Arg144Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022265]|Multiple endocrine neoplasia, type 2 [RCV002549550] Chr10:43102434 [GRCh38]
Chr10:43597882 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2832C>G (p.Ile944Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003117541]|not provided [RCV003884721] Chr10:43123701 [GRCh38]
Chr10:43619149 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1064-9T>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003118330] Chr10:43109022 [GRCh38]
Chr10:43604470 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.868-63G>C single nucleotide variant not provided [RCV001566249] Chr10:43106313 [GRCh38]
Chr10:43601761 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2607+136A>G single nucleotide variant not provided [RCV001559964] Chr10:43119881 [GRCh38]
Chr10:43615329 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.74-57dup duplication not provided [RCV001695506] Chr10:43100388..43100389 [GRCh38]
Chr10:43595836..43595837 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.337+196G>A single nucleotide variant not provided [RCV001550180] Chr10:43100918 [GRCh38]
Chr10:43596366 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1064-114G>A single nucleotide variant not provided [RCV001572204] Chr10:43108917 [GRCh38]
Chr10:43604365 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2730+322C>T single nucleotide variant not provided [RCV001689386] Chr10:43120525 [GRCh38]
Chr10:43615973 [GRCh37]
Chr10:10q11.21
benign
NC_000010.11:g.43076732C>A single nucleotide variant not provided [RCV001546105] Chr10:43076732 [GRCh38]
Chr10:43572180 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3180A>G (p.Lys1060_Leu1061=) single nucleotide variant not provided [RCV001531685] Chr10:43126715 [GRCh38]
Chr10:43622163 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2801+225C>T single nucleotide variant not provided [RCV001566270] Chr10:43122241 [GRCh38]
Chr10:43617689 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1760-140C>G single nucleotide variant not provided [RCV001644344] Chr10:43113416 [GRCh38]
Chr10:43608864 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.3204C>T (p.Asn1068=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320186]|Multiple endocrine neoplasia, type 2 [RCV001467228] Chr10:43128128 [GRCh38]
Chr10:43623576 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.414G>A (p.Gln138=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001394061] Chr10:43102418 [GRCh38]
Chr10:43597866 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1008C>T (p.Asn336=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427265]|Multiple endocrine neoplasia, type 2 [RCV000907254] Chr10:43106516 [GRCh38]
Chr10:43601964 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.57G>C (p.Leu19=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002354789]|Multiple endocrine neoplasia, type 2 [RCV000932423] Chr10:43077315 [GRCh38]
Chr10:43572763 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1753T>C (p.Cys585Arg) single nucleotide variant Aganglionic megacolon [RCV000857245] Chr10:43112957 [GRCh38]
Chr10:43608405 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.2880C>T (p.Leu960=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001430552] Chr10:43123749 [GRCh38]
Chr10:43619197 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2676T>C (p.Asp892=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372902]|Multiple endocrine neoplasia, type 2 [RCV000874708] Chr10:43120149 [GRCh38]
Chr10:43615597 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1114C>T (p.Leu372=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434213]|Multiple endocrine neoplasia, type 2 [RCV001426103] Chr10:43109081 [GRCh38]
Chr10:43604529 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1059C>T (p.Asp353=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400058]|Multiple endocrine neoplasia, type 2 [RCV001406034] Chr10:43106567 [GRCh38]
Chr10:43602015 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2139G>A (p.Glu713=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256573]|Multiple endocrine neoplasia, type 2 [RCV000870631]|RET-related condition [RCV003948164] Chr10:43116586 [GRCh38]
Chr10:43612034 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1269G>C (p.Gly423=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001485744] Chr10:43111212 [GRCh38]
Chr10:43606660 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.625+9C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000861452]|RET-related condition [RCV003892777] Chr10:43102638 [GRCh38]
Chr10:43598086 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity
NM_020975.6(RET):c.768G>C (p.Val256=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400133]|Multiple endocrine neoplasia, type 2 [RCV001447989] Chr10:43105094 [GRCh38]
Chr10:43600542 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1146G>A (p.Gln382=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454051]|Multiple endocrine neoplasia, type 2 [RCV001490918]|not provided [RCV000877606]|not specified [RCV002268346] Chr10:43109113 [GRCh38]
Chr10:43604561 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.1668C>T (p.Ser556=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400110]|Multiple endocrine neoplasia, type 2 [RCV001413938] Chr10:43112872 [GRCh38]
Chr10:43608320 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1803G>A (p.Gly601=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307713]|Multiple endocrine neoplasia, type 2 [RCV001468092] Chr10:43113599 [GRCh38]
Chr10:43609047 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.810C>G (p.Pro270=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001457842] Chr10:43105136 [GRCh38]
Chr10:43600584 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2430C>G (p.Gly810=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454177]|Multiple endocrine neoplasia, type 2 [RCV000946396] Chr10:43119568 [GRCh38]
Chr10:43615016 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1596C>A (p.Gly532=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV000931435] Chr10:43112172 [GRCh38]
Chr10:43607620 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.543C>G (p.Pro181=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003279159]|Multiple endocrine neoplasia, type 2 [RCV001436367] Chr10:43102547 [GRCh38]
Chr10:43597995 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.723C>T (p.Ala241=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372563]|Hirschsprung disease, susceptibility to, 1 [RCV002487995]|Multiple endocrine neoplasia, type 2 [RCV000922069] Chr10:43105049 [GRCh38]
Chr10:43600497 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2623T>C (p.Leu875=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427297]|Multiple endocrine neoplasia, type 2 [RCV000926924] Chr10:43120096 [GRCh38]
Chr10:43615544 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.873C>T (p.Thr291=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372481]|Multiple endocrine neoplasia, type 2 [RCV000874137] Chr10:43106381 [GRCh38]
Chr10:43601829 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1584T>C (p.Cys528=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001415405] Chr10:43112160 [GRCh38]
Chr10:43607608 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1183G>A (p.Val395Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339346]|Multiple endocrine neoplasia, type 2 [RCV001070874] Chr10:43109150 [GRCh38]
Chr10:43604598 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.857A>C (p.Lys286Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001071048] Chr10:43105183 [GRCh38]
Chr10:43600631 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3285A>G (p.Val1095=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447066]|Multiple endocrine neoplasia, type 2 [RCV001207466]|not provided [RCV003233993] Chr10:43128209 [GRCh38]
Chr10:43623657 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2419G>T (p.Ala807Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001226178] Chr10:43119557 [GRCh38]
Chr10:43615005 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2617C>A (p.Arg873=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001212563] Chr10:43120090 [GRCh38]
Chr10:43615538 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.650C>T (p.Ala217Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001071229] Chr10:43104976 [GRCh38]
Chr10:43600424 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1511T>C (p.Val504Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393609]|Multiple endocrine neoplasia, type 2 [RCV001239229] Chr10:43111454 [GRCh38]
Chr10:43606902 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.788A>G (p.Tyr263Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001226239] Chr10:43105114 [GRCh38]
Chr10:43600562 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1151del (p.Pro384fs) deletion Multiple endocrine neoplasia, type 2 [RCV001244607] Chr10:43109116 [GRCh38]
Chr10:43604564 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.3187+5A>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001219026] Chr10:43126727 [GRCh38]
Chr10:43622175 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.677G>C (p.Arg226Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366071]|Hirschsprung disease, susceptibility to, 1 [RCV002480816]|Hirschsprung disease, susceptibility to, 1 [RCV003469464]|Multiple endocrine neoplasia, type 2 [RCV001243116] Chr10:43105003 [GRCh38]
Chr10:43600451 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3044A>G (p.Tyr1015Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447226]|Hirschsprung disease, susceptibility to, 1 [RCV002491843]|Multiple endocrine neoplasia, type 2 [RCV001247745]|RET-related condition [RCV003405453] Chr10:43126579 [GRCh38]
Chr10:43622027 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1203C>A (p.Ser401Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348671]|Multiple endocrine neoplasia, type 2 [RCV001205511] Chr10:43109170 [GRCh38]
Chr10:43604618 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.60_65del (p.Leu21_Leu22del) deletion Multiple endocrine neoplasia, type 2 [RCV001216837] Chr10:43077318..43077323 [GRCh38]
Chr10:43572766..43572771 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.59C>G (p.Pro20Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357026]|Multiple endocrine neoplasia, type 2 [RCV001240317] Chr10:43077317 [GRCh38]
Chr10:43572765 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2867C>T (p.Pro956Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436566]|Multiple endocrine neoplasia, type 2 [RCV001044151] Chr10:43123736 [GRCh38]
Chr10:43619184 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2392+7C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001213763] Chr10:43118487 [GRCh38]
Chr10:43613935 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3026T>A (p.Met1009Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001243895] Chr10:43124969 [GRCh38]
Chr10:43620417 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1533A>G single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001108601]|Multiple endocrine neoplasia [RCV001103422]|Pheochromocytoma [RCV001108600]|Renal hypodysplasia/aplasia 1 [RCV001103423] Chr10:43129802 [GRCh38]
Chr10:43625250 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1711G>A (p.Asp571Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002402700]|Multiple endocrine neoplasia, type 2 [RCV001224329] Chr10:43112915 [GRCh38]
Chr10:43608363 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.484C>A (p.Pro162Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001044814] Chr10:43102488 [GRCh38]
Chr10:43597936 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3140C>T (p.Pro1047Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322057]|Hirschsprung disease, susceptibility to, 1 [RCV002484179]|Multiple endocrine neoplasia, type 2 [RCV001217322] Chr10:43126675 [GRCh38]
Chr10:43622123 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.750C>T (p.Arg250=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393470]|Hirschsprung disease, susceptibility to, 1 [RCV002480689]|Multiple endocrine neoplasia, type 2 [RCV001209376]|RET-related condition [RCV003892165] Chr10:43105076 [GRCh38]
Chr10:43600524 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.742G>A (p.Gly248Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002379894]|Multiple endocrine neoplasia, type 2 [RCV001234495]|not specified [RCV002246222] Chr10:43105068 [GRCh38]
Chr10:43600516 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.2236C>G (p.Leu746Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001209606] Chr10:43116683 [GRCh38]
Chr10:43612131 [GRCh37]
Chr10:10q11.21
uncertain significance
NC_000010.11:g.(?_43077064)_(43077341_?)dup duplication Multiple endocrine neoplasia, type 2 [RCV001031196] Chr10:43572512..43572789 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3233C>G (p.Thr1078Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019343]|Multiple endocrine neoplasia, type 2 [RCV002549503] Chr10:43128157 [GRCh38]
Chr10:43623605 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.952C>G (p.Leu318Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019464] Chr10:43106460 [GRCh38]
Chr10:43601908 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3304T>C (p.Ser1102Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019824]|Multiple endocrine neoplasia, type 2 [RCV001240737] Chr10:43128228 [GRCh38]
Chr10:43623676 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.997C>T (p.His333Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019953]|Multiple endocrine neoplasia, type 2 [RCV003532350] Chr10:43106505 [GRCh38]
Chr10:43601953 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2285-10T>C single nucleotide variant not provided [RCV000911126] Chr10:43118363 [GRCh38]
Chr10:43613811 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.138C>T (p.Ala46=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002390899]|Hirschsprung disease, susceptibility to, 1 [RCV002479059]|Multiple endocrine neoplasia, type 2 [RCV001411320] Chr10:43100523 [GRCh38]
Chr10:43595971 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.238C>T (p.Leu80=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532323] Chr10:43100623 [GRCh38]
Chr10:43596071 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.288C>T (p.Tyr96=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434246]|Multiple endocrine neoplasia, type 2 [RCV001454702] Chr10:43100673 [GRCh38]
Chr10:43596121 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.626-72_626-71del deletion not provided [RCV001530591] Chr10:43104877..43104878 [GRCh38]
Chr10:43600325..43600326 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2137-324A>G single nucleotide variant not provided [RCV001677432] Chr10:43116260 [GRCh38]
Chr10:43611708 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2939+258G>A single nucleotide variant not provided [RCV001558059] Chr10:43124066 [GRCh38]
Chr10:43619514 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.74-50G>T single nucleotide variant Multiple endocrine neoplasia, type 2a [RCV000988340] Chr10:43100409 [GRCh38]
Chr10:43595857 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2592T>C (p.Tyr864=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427440]|Multiple endocrine neoplasia, type 2a [RCV000988347] Chr10:43119730 [GRCh38]
Chr10:43615178 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2608-117G>T single nucleotide variant not provided [RCV001558417] Chr10:43119964 [GRCh38]
Chr10:43615412 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.626-189_626-180del deletion not provided [RCV001586876] Chr10:43104763..43104772 [GRCh38]
Chr10:43600211..43600220 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.626-2dup duplication not provided [RCV000994376] Chr10:43104949..43104950 [GRCh38]
Chr10:43600397..43600398 [GRCh37]
Chr10:10q11.21
uncertain significance
NC_000010.11:g.43076978C>T single nucleotide variant not provided [RCV001558610] Chr10:43076978 [GRCh38]
Chr10:43572426 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2437C>G (p.Arg813Gly) single nucleotide variant not provided [RCV003108268] Chr10:43119575 [GRCh38]
Chr10:43615023 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1759+242G>A single nucleotide variant not provided [RCV001641156] Chr10:43113205 [GRCh38]
Chr10:43608653 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.73+171_73+172del deletion not provided [RCV001717754] Chr10:43077502..43077503 [GRCh38]
Chr10:43572950..43572951 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.337+258G>T single nucleotide variant not provided [RCV001596535] Chr10:43100980 [GRCh38]
Chr10:43596428 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+9385_73+9395del deletion Multiple endocrine neoplasia, type 2 [RCV002072038]|RET-related condition [RCV003940994]|not provided [RCV001550439] Chr10:43086715..43086725 [GRCh38]
Chr10:43582163..43582173 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.2137-1G>A single nucleotide variant not provided [RCV001561289] Chr10:43116583 [GRCh38]
Chr10:43612031 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.2939+286A>G single nucleotide variant not provided [RCV001576981] Chr10:43124094 [GRCh38]
Chr10:43619542 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.43_51dup (p.Leu19_Pro20insLeuLeuLeu) duplication Hereditary cancer-predisposing syndrome [RCV001022248]|Multiple endocrine neoplasia, type 2 [RCV001062924] Chr10:43077294..43077295 [GRCh38]
Chr10:43572742..43572743 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2482G>A (p.Gly828Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001066251] Chr10:43119620 [GRCh38]
Chr10:43615068 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.11C>T (p.Ala4Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001066496] Chr10:43077269 [GRCh38]
Chr10:43572717 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.-4G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023397] Chr10:43077255 [GRCh38]
Chr10:43572703 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1063+47G>A single nucleotide variant not provided [RCV001608244]|not specified [RCV002465894] Chr10:43106618 [GRCh38]
Chr10:43602066 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.2801+54A>T single nucleotide variant not provided [RCV001717755] Chr10:43122070 [GRCh38]
Chr10:43617518 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.343G>A (p.Gly115Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020312]|Multiple endocrine neoplasia, type 2 [RCV002551826] Chr10:43102347 [GRCh38]
Chr10:43597795 [GRCh37]
Chr10:10q11.21
uncertain significance
NC_000010.11:g.43076848G>A single nucleotide variant not provided [RCV001655112] Chr10:43076848 [GRCh38]
Chr10:43572296 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.868-75T>C single nucleotide variant not provided [RCV001595940] Chr10:43106301 [GRCh38]
Chr10:43601749 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2940-252G>A single nucleotide variant not provided [RCV001637205] Chr10:43124631 [GRCh38]
Chr10:43620079 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.73+9189C>T single nucleotide variant not provided [RCV001653030] Chr10:43086520 [GRCh38]
Chr10:43581968 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2608-124G>A single nucleotide variant not provided [RCV001661121] Chr10:43119957 [GRCh38]
Chr10:43615405 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2939+110del deletion not provided [RCV001590768] Chr10:43123913 [GRCh38]
Chr10:43619361 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2392+302G>A single nucleotide variant not provided [RCV001598263] Chr10:43118782 [GRCh38]
Chr10:43614230 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2136+271T>C single nucleotide variant not provided [RCV001673937] Chr10:43115007 [GRCh38]
Chr10:43610455 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.338-106G>A single nucleotide variant not provided [RCV001718361] Chr10:43102236 [GRCh38]
Chr10:43597684 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2137-253C>T single nucleotide variant not provided [RCV001608183] Chr10:43116331 [GRCh38]
Chr10:43611779 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.1690A>T (p.Thr564Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012762]|Multiple endocrine neoplasia, type 2 [RCV001062237] Chr10:43112894 [GRCh38]
Chr10:43608342 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1726C>A (p.Gln576Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012907] Chr10:43112930 [GRCh38]
Chr10:43608378 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1326T>C single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001103339]|Multiple endocrine neoplasia [RCV001103338]|Pheochromocytoma [RCV001103340]|Renal hypodysplasia/aplasia 1 [RCV001103337] Chr10:43129595 [GRCh38]
Chr10:43625043 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.1768A>G (p.Ile590Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013082]|Multiple endocrine neoplasia, type 2 [RCV001206268] Chr10:43113564 [GRCh38]
Chr10:43609012 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1326G>T (p.Leu442=) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001104386]|Multiple endocrine neoplasia [RCV001104385]|Pheochromocytoma [RCV001104387]|Renal hypodysplasia/aplasia 1 [RCV001104384] Chr10:43111269 [GRCh38]
Chr10:43606717 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1900_1901delinsCT (p.Cys634Leu) indel Hereditary cancer-predisposing syndrome [RCV001013613]|Multiple endocrine neoplasia, type 2 [RCV003532347] Chr10:43114500..43114501 [GRCh38]
Chr10:43609948..43609949 [GRCh37]
Chr10:10q11.21
pathogenic|uncertain significance
NM_020975.6(RET):c.*180G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001108333]|Multiple endocrine neoplasia [RCV001108330]|Pheochromocytoma [RCV001108331]|Renal hypodysplasia/aplasia 1 [RCV001108332] Chr10:43128449 [GRCh38]
Chr10:43623897 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.804G>A (p.Ser268=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027107]|Multiple endocrine neoplasia, type 2 [RCV001468037] Chr10:43105130 [GRCh38]
Chr10:43600578 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1194G>A (p.Leu398=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010174]|Multiple endocrine neoplasia, type 2 [RCV002068821] Chr10:43109161 [GRCh38]
Chr10:43604609 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.-160G>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001103597]|Multiple endocrine neoplasia [RCV001103599]|Pheochromocytoma [RCV001103598]|Renal hypodysplasia/aplasia 1 [RCV001103596]|not provided [RCV003413914] Chr10:43077099 [GRCh38]
Chr10:43572547 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.*1046G>C single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001105162]|Multiple endocrine neoplasia [RCV001105164]|Pheochromocytoma [RCV001105163]|Renal hypodysplasia/aplasia 1 [RCV001105165]|not provided [RCV002264184] Chr10:43129315 [GRCh38]
Chr10:43624763 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.2062T>C (p.Ser688Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014215]|Multiple endocrine neoplasia, type 2 [RCV001043452] Chr10:43114662 [GRCh38]
Chr10:43610110 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2060A>G (p.Tyr687Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014276]|Multiple endocrine neoplasia, type 2 [RCV001873254] Chr10:43114660 [GRCh38]
Chr10:43610108 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1430A>G single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001105254]|Multiple endocrine neoplasia [RCV001105256]|Pheochromocytoma [RCV001105255]|Renal hypodysplasia/aplasia 1 [RCV001105257]|not provided [RCV002275285] Chr10:43129699 [GRCh38]
Chr10:43625147 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.*159G>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001106120]|Multiple endocrine neoplasia [RCV001106121]|Pheochromocytoma [RCV001106122]|Renal hypodysplasia/aplasia 1 [RCV001106119] Chr10:43128428 [GRCh38]
Chr10:43623876 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.129C>A (p.Asp43Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010592]|Multiple endocrine neoplasia, type 2 [RCV003532346] Chr10:43100514 [GRCh38]
Chr10:43595962 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2254T>G (p.Tyr752Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014949] Chr10:43116701 [GRCh38]
Chr10:43612149 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2280G>A (p.Leu760=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015038] Chr10:43116727 [GRCh38]
Chr10:43612175 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2286G>C (p.Glu762Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015065]|Hirschsprung disease, susceptibility to, 1 [RCV002481824]|Multiple endocrine neoplasia, type 2 [RCV001054004] Chr10:43118374 [GRCh38]
Chr10:43613822 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1661A>T (p.Asn554Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001065705] Chr10:43112865 [GRCh38]
Chr10:43608313 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.229C>A (p.Arg77Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015101] Chr10:43100614 [GRCh38]
Chr10:43596062 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2374G>C (p.Gly792Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015341] Chr10:43118462 [GRCh38]
Chr10:43613910 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2450G>A (p.Arg817His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015581]|Hirschsprung disease, susceptibility to, 1 [RCV002479211]|Multiple endocrine neoplasia, type 2 [RCV001360335] Chr10:43119588 [GRCh38]
Chr10:43615036 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1516C>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001108597]|Multiple endocrine neoplasia [RCV001108598]|Pheochromocytoma [RCV001108599]|Renal hypodysplasia/aplasia 1 [RCV001108596] Chr10:43129785 [GRCh38]
Chr10:43625233 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2464G>A (p.Val822Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015622]|Multiple endocrine neoplasia, type 2 [RCV001860801] Chr10:43119602 [GRCh38]
Chr10:43615050 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2519A>G (p.His840Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015829] Chr10:43119657 [GRCh38]
Chr10:43615105 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2802-3C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016647]|Multiple endocrine neoplasia, type 2 [RCV003645880] Chr10:43123668 [GRCh38]
Chr10:43619116 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1363G>A (p.Val455Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011134]|Hirschsprung disease, susceptibility to, 1 [RCV002481819]|Multiple endocrine neoplasia, type 2 [RCV001070712] Chr10:43111306 [GRCh38]
Chr10:43606754 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.607G>A (p.Ala203Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024872]|Multiple endocrine neoplasia, type 2 [RCV001304872] Chr10:43102611 [GRCh38]
Chr10:43598059 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1440A>C (p.Glu480Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011594]|Multiple endocrine neoplasia, type 2 [RCV002550769] Chr10:43111383 [GRCh38]
Chr10:43606831 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1039G>A (p.Val347Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017116]|Hirschsprung disease, susceptibility to, 1 [RCV003461357]|Multiple endocrine neoplasia, type 2 [RCV001860854] Chr10:43106547 [GRCh38]
Chr10:43601995 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*29C>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001104962]|Multiple endocrine neoplasia [RCV001103049]|Pheochromocytoma [RCV001103050]|Renal hypodysplasia/aplasia 1 [RCV001104961]|not specified [RCV003321801] Chr10:43128298 [GRCh38]
Chr10:43623746 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.622G>C (p.Glu208Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025027]|Multiple endocrine neoplasia, type 2 [RCV001350994] Chr10:43102626 [GRCh38]
Chr10:43598074 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1471C>T (p.Gln491Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011763]|Multiple endocrine neoplasia, type 2 [RCV002549346] Chr10:43111414 [GRCh38]
Chr10:43606862 [GRCh37]
Chr10:10q11.21
pathogenic|uncertain significance
NM_020975.6(RET):c.633T>C (p.Gly211=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025154]|Multiple endocrine neoplasia, type 2 [RCV001449205]|RET-related condition [RCV003962997] Chr10:43104959 [GRCh38]
Chr10:43600407 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1504G>A (p.Val502Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011938]|Multiple endocrine neoplasia, type 2 [RCV001308463] Chr10:43111447 [GRCh38]
Chr10:43606895 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1504G>C (p.Val502Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011939]|Multiple endocrine neoplasia, type 2 [RCV001860685] Chr10:43111447 [GRCh38]
Chr10:43606895 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.843C>T (p.Ala281=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017775]|Multiple endocrine neoplasia, type 2 [RCV001493776] Chr10:43105169 [GRCh38]
Chr10:43600617 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.844G>A (p.Val282Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017813]|Multiple endocrine neoplasia, type 2 [RCV003532348] Chr10:43105170 [GRCh38]
Chr10:43600618 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*883G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001103247]|Multiple endocrine neoplasia [RCV001105161]|Pheochromocytoma [RCV001103246]|Renal hypodysplasia/aplasia 1 [RCV001105160] Chr10:43129152 [GRCh38]
Chr10:43624600 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.-173A>G single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001103593]|Multiple endocrine neoplasia [RCV001103594]|Pheochromocytoma [RCV001108760]|Renal hypodysplasia/aplasia 1 [RCV001103595] Chr10:43077086 [GRCh38]
Chr10:43572534 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.660C>T (p.Ser220=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025453]|Multiple endocrine neoplasia, type 2 [RCV001473235] Chr10:43104986 [GRCh38]
Chr10:43600434 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.15G>C (p.Thr5=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012310]|Multiple endocrine neoplasia, type 2 [RCV001480371] Chr10:43077273 [GRCh38]
Chr10:43572721 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3026T>C (p.Met1009Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018156]|Hirschsprung disease, susceptibility to, 1 [RCV003467645]|Multiple endocrine neoplasia, type 2 [RCV001218055]|Multiple endocrine neoplasia, type 2a [RCV003325220]|not provided [RCV002261251] Chr10:43124969 [GRCh38]
Chr10:43620417 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3069A>G (p.Pro1023=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018437]|Multiple endocrine neoplasia, type 2 [RCV003645881] Chr10:43126604 [GRCh38]
Chr10:43622052 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1601T>C (p.Leu534Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002402498]|Hirschsprung disease, susceptibility to, 1 [RCV001102554]|Multiple endocrine neoplasia [RCV001102553]|Multiple endocrine neoplasia, type 2 [RCV003645886]|Pheochromocytoma [RCV001102555]|Renal hypodysplasia/aplasia 1 [RCV001102552] Chr10:43112177 [GRCh38]
Chr10:43607625 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3127T>G (p.Cys1043Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018743]|Multiple endocrine neoplasia, type 2 [RCV001211781] Chr10:43126662 [GRCh38]
Chr10:43622110 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.312C>A (p.Ser104Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018748]|Multiple endocrine neoplasia, type 2 [RCV003532349] Chr10:43100697 [GRCh38]
Chr10:43596145 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3148C>G (p.Arg1050Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018808]|Multiple endocrine neoplasia, type 2 [RCV001040336]|RET-related condition [RCV003413807]|not specified [RCV001195396] Chr10:43126683 [GRCh38]
Chr10:43622131 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3139C>T (p.Pro1047Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320227]|Multiple endocrine neoplasia, type 2 [RCV001035018] Chr10:43126674 [GRCh38]
Chr10:43622122 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1648+188G>A single nucleotide variant not provided [RCV001644372] Chr10:43112412 [GRCh38]
Chr10:43607860 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2731-290A>G single nucleotide variant not provided [RCV001667052] Chr10:43121656 [GRCh38]
Chr10:43617104 [GRCh37]
Chr10:10q11.21
benign
NC_000010.11:g.(?_43077064)_(43128277_?)dup duplication Multiple endocrine neoplasia, type 2 [RCV001032986] Chr10:43572512..43623725 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1426C>A (p.Pro476Thr) single nucleotide variant Appendicitis [RCV001533538] Chr10:43111369 [GRCh38]
Chr10:43606817 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1403A>G (p.Asn468Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001047723] Chr10:43111346 [GRCh38]
Chr10:43606794 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1406A>T (p.Asp469Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001047734] Chr10:43111349 [GRCh38]
Chr10:43606797 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2662A>G (p.Met888Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451192]|Multiple endocrine neoplasia, type 2 [RCV001047838]|RET-related condition [RCV003393806]|not provided [RCV001759772] Chr10:43120135 [GRCh38]
Chr10:43615583 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1811C>T (p.Ala604Val) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002482131]|Multiple endocrine neoplasia, type 2 [RCV001069638]|RET-related condition [RCV003396723] Chr10:43113607 [GRCh38]
Chr10:43609055 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.542C>T (p.Pro181Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024092] Chr10:43102546 [GRCh38]
Chr10:43597994 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.892G>A (p.Val298Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372981]|Multiple endocrine neoplasia, type 2 [RCV001069704] Chr10:43106400 [GRCh38]
Chr10:43601848 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2393-94C>A single nucleotide variant not provided [RCV001652544] Chr10:43119437 [GRCh38]
Chr10:43614885 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.3187+198T>A single nucleotide variant not provided [RCV001614710] Chr10:43126920 [GRCh38]
Chr10:43622368 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.74-58_74-57dup duplication not provided [RCV001539252] Chr10:43100388..43100389 [GRCh38]
Chr10:43595836..43595837 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.978G>C (p.Gln326His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001067650] Chr10:43106486 [GRCh38]
Chr10:43601934 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.338-174_338-162del deletion not provided [RCV001665362] Chr10:43102161..43102173 [GRCh38]
Chr10:43597609..43597621 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1263+272A>G single nucleotide variant not provided [RCV001691867] Chr10:43109502 [GRCh38]
Chr10:43604950 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2136+182G>A single nucleotide variant not provided [RCV001613755] Chr10:43114918 [GRCh38]
Chr10:43610366 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.824_825delinsTT (p.Gly275Val) indel Hereditary cancer-predisposing syndrome [RCV003365278]|Multiple endocrine neoplasia, type 2 [RCV001235594] Chr10:43105150..43105151 [GRCh38]
Chr10:43600598..43600599 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2392+6G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001060018] Chr10:43118486 [GRCh38]
Chr10:43613934 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1917A>G (p.Ala639=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013690] Chr10:43114517 [GRCh38]
Chr10:43609965 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.812C>T (p.Thr271Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027202]|Multiple endocrine neoplasia, type 2 [RCV001862404] Chr10:43105138 [GRCh38]
Chr10:43600586 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2313C>G (p.Asp771Glu) single nucleotide variant Multiple endocrine neoplasia, type 2b [RCV001196508] Chr10:43118401 [GRCh38]
Chr10:43613849 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.970T>G (p.Trp324Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375195]|Multiple endocrine neoplasia, type 2 [RCV001218751] Chr10:43106478 [GRCh38]
Chr10:43601926 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.178C>T (p.Pro60Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411620]|Hirschsprung disease, susceptibility to, 1 [RCV002489713]|Hirschsprung disease, susceptibility to, 1 [RCV003462620]|Multiple endocrine neoplasia, type 2 [RCV001071199] Chr10:43100563 [GRCh38]
Chr10:43596011 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2294C>T (p.Ser765Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445281]|Multiple endocrine neoplasia, type 2 [RCV001052687] Chr10:43118382 [GRCh38]
Chr10:43613830 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1648+4A>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001052691] Chr10:43112228 [GRCh38]
Chr10:43607676 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.733G>A (p.Val245Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160453]|Multiple endocrine neoplasia, type 2 [RCV001056109]|Ovarian cancer [RCV003153912] Chr10:43105059 [GRCh38]
Chr10:43600507 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.2980A>G (p.Lys994Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436971]|Multiple endocrine neoplasia, type 2 [RCV001247508] Chr10:43124923 [GRCh38]
Chr10:43620371 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.960C>A (p.Pro320=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256697]|Hirschsprung disease, susceptibility to, 1 [RCV002484114]|Multiple endocrine neoplasia, type 2 [RCV001206433] Chr10:43106468 [GRCh38]
Chr10:43601916 [GRCh37]
Chr10:10q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.2550C>G (p.Asp850Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001206439] Chr10:43119688 [GRCh38]
Chr10:43615136 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1043G>A (p.Arg348Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372984]|Multiple endocrine neoplasia, type 2 [RCV001071531] Chr10:43106551 [GRCh38]
Chr10:43601999 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1759C>G (p.Arg587Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001056365] Chr10:43112963 [GRCh38]
Chr10:43608411 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3192G>A (p.Met1064Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445297]|Hirschsprung disease, susceptibility to, 1 [RCV002482014]|Multiple endocrine neoplasia, type 2 [RCV001056445]|not provided [RCV003238833] Chr10:43128116 [GRCh38]
Chr10:43623564 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.29G>T (p.Gly10Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001205118] Chr10:43077287 [GRCh38]
Chr10:43572735 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2088G>T (p.Ser696=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014388]|Multiple endocrine neoplasia, type 2 [RCV001487630] Chr10:43114688 [GRCh38]
Chr10:43610136 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2169C>T (p.Asn723=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014627] Chr10:43116616 [GRCh38]
Chr10:43612064 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.516C>T (p.Pro172=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023651]|Multiple endocrine neoplasia, type 2 [RCV002067665] Chr10:43102520 [GRCh38]
Chr10:43597968 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1450A>C (p.Met484Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001247478] Chr10:43111393 [GRCh38]
Chr10:43606841 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2309G>C (p.Arg770Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160462]|Multiple endocrine neoplasia, type 2 [RCV001057322] Chr10:43118397 [GRCh38]
Chr10:43613845 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1522T>C (p.Tyr508His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393301]|Multiple endocrine neoplasia, type 2 [RCV001061306]|not provided [RCV003442186] Chr10:43111465 [GRCh38]
Chr10:43606913 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1880-5C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411629]|Hirschsprung disease, susceptibility to, 1 [RCV001107889]|Multiple endocrine neoplasia [RCV001107890]|Pheochromocytoma [RCV001102656]|Renal hypodysplasia/aplasia 1 [RCV001102655] Chr10:43114475 [GRCh38]
Chr10:43609923 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2393G>A (p.Gly798Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001053402] Chr10:43119531 [GRCh38]
Chr10:43614979 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*492G>C single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001105065]|Multiple endocrine neoplasia [RCV001103155]|Pheochromocytoma [RCV001105064]|Renal hypodysplasia/aplasia 1 [RCV001103154] Chr10:43128761 [GRCh38]
Chr10:43624209 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.1220C>T (p.Thr407Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001236989] Chr10:43109187 [GRCh38]
Chr10:43604635 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1062T>C (p.Tyr354=) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001107616]|Multiple endocrine neoplasia [RCV001103995]|Multiple endocrine neoplasia, type 2 [RCV001053723]|Pheochromocytoma [RCV001107615]|Renal hypodysplasia/aplasia 1 [RCV001107617] Chr10:43106570 [GRCh38]
Chr10:43602018 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1294_1296delinsACG (p.Ala432Thr) indel Hereditary cancer-predisposing syndrome [RCV001010804] Chr10:43111237..43111239 [GRCh38]
Chr10:43606685..43606687 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.553T>G (p.Phe185Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024249] Chr10:43102557 [GRCh38]
Chr10:43598005 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1812C>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001105441]|Multiple endocrine neoplasia [RCV001105442]|Pheochromocytoma [RCV001103515]|Renal hypodysplasia/aplasia 1 [RCV001103516] Chr10:43130081 [GRCh38]
Chr10:43625529 [GRCh37]
Chr10:10q11.21
benign|likely benign|uncertain significance
NM_020975.6(RET):c.1963T>G (p.Phe655Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001216697] Chr10:43114563 [GRCh38]
Chr10:43610011 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1886T>C (p.Leu629Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001247944] Chr10:43114486 [GRCh38]
Chr10:43609934 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.936_939del (p.Arg312fs) deletion Multiple endocrine neoplasia, type 2 [RCV001237306] Chr10:43106443..43106446 [GRCh38]
Chr10:43601891..43601894 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1340C>A (p.Ala447Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010947]|Multiple endocrine neoplasia, type 2 [RCV002549333] Chr10:43111283 [GRCh38]
Chr10:43606731 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1356A>G (p.Leu452=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011149] Chr10:43111299 [GRCh38]
Chr10:43606747 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1118C>A (p.Ala373Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001205795] Chr10:43109085 [GRCh38]
Chr10:43604533 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2980A>C (p.Lys994Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436916]|Multiple endocrine neoplasia, type 2 [RCV001234175] Chr10:43124923 [GRCh38]
Chr10:43620371 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2297C>T (p.Pro766Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451436]|Hirschsprung disease, susceptibility to, 1 [RCV003469333]|Multiple endocrine neoplasia, type 2 [RCV001205882] Chr10:43118385 [GRCh38]
Chr10:43613833 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1345T>C (p.Cys449Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002379486]|Multiple endocrine neoplasia, type 2 [RCV001037480] Chr10:43111288 [GRCh38]
Chr10:43606736 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1453G>A (p.Val485Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393591]|Multiple endocrine neoplasia, type 2 [RCV001234305] Chr10:43111396 [GRCh38]
Chr10:43606844 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1780C>T (p.His594Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001206841] Chr10:43113576 [GRCh38]
Chr10:43609024 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2105A>G (p.Asn702Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416344]|Multiple endocrine neoplasia, type 2 [RCV001040261] Chr10:43114705 [GRCh38]
Chr10:43610153 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3038G>C (p.Arg1013Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001054586] Chr10:43124981 [GRCh38]
Chr10:43620429 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.143C>T (p.Thr48Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011585]|Multiple endocrine neoplasia, type 2 [RCV001069718]|Multiple endocrine neoplasia, type 2a [RCV003447573] Chr10:43100528 [GRCh38]
Chr10:43595976 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.618C>G (p.Leu206=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024984] Chr10:43102622 [GRCh38]
Chr10:43598070 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.722C>T (p.Ala241Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001235262] Chr10:43105048 [GRCh38]
Chr10:43600496 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1030G>A (p.Gly344Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002379500]|Hirschsprung disease, susceptibility to, 1 [RCV003467724]|Multiple endocrine neoplasia, type 2 [RCV001040633] Chr10:43106538 [GRCh38]
Chr10:43601986 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.666G>A (p.Glu222=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025514]|Multiple endocrine neoplasia, type 2 [RCV001496170] Chr10:43104992 [GRCh38]
Chr10:43600440 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1619G>A (p.Arg540Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012453] Chr10:43112195 [GRCh38]
Chr10:43607643 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3315G>A (p.Ala1105=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451459]|Multiple endocrine neoplasia, type 2 [RCV001211085] Chr10:43128239 [GRCh38]
Chr10:43623687 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1064-6C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001041016] Chr10:43109025 [GRCh38]
Chr10:43604473 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.-51C>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001106683]|Multiple endocrine neoplasia [RCV001105541]|Pheochromocytoma [RCV001106682]|Renal hypodysplasia/aplasia 1 [RCV001106684] Chr10:43077208 [GRCh38]
Chr10:43572656 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1843G>A (p.Glu615Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001207229] Chr10:43113639 [GRCh38]
Chr10:43609087 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2200G>A (p.Glu734Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001219611] Chr10:43116647 [GRCh38]
Chr10:43612095 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.748C>T (p.Arg250Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026492]|Multiple endocrine neoplasia, type 2 [RCV003532351] Chr10:43105074 [GRCh38]
Chr10:43600522 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1761G>T (p.Arg587=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013071] Chr10:43113557 [GRCh38]
Chr10:43609005 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1385C>T (p.Ser462Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393566]|Hirschsprung disease, susceptibility to, 1 [RCV002497777]|Multiple endocrine neoplasia, type 2 [RCV001228900]|Ovarian cancer [RCV003153952] Chr10:43111328 [GRCh38]
Chr10:43606776 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.739G>A (p.Ala247Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001064034] Chr10:43105065 [GRCh38]
Chr10:43600513 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.931G>A (p.Val311Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019168]|Multiple endocrine neoplasia, type 2 [RCV002549499] Chr10:43106439 [GRCh38]
Chr10:43601887 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1914C>T (p.Ile638=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013679]|Multiple endocrine neoplasia, type 2 [RCV001493439]|RET-related condition [RCV003962991] Chr10:43114514 [GRCh38]
Chr10:43609962 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1285A>T (p.Asn429Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001039854] Chr10:43111228 [GRCh38]
Chr10:43606676 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1407C>G (p.Asp469Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393314]|Multiple endocrine neoplasia, type 2 [RCV001064160] Chr10:43111350 [GRCh38]
Chr10:43606798 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2003C>T (p.Pro668Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014060]|Hirschsprung disease, susceptibility to, 1 [RCV003461336]|Multiple endocrine neoplasia, type 2 [RCV002549401] Chr10:43114603 [GRCh38]
Chr10:43610051 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.817C>G (p.Pro273Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027250] Chr10:43105143 [GRCh38]
Chr10:43600591 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1112A>G single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001106290]|Multiple endocrine neoplasia [RCV001106292]|Pheochromocytoma [RCV001106293]|Renal hypodysplasia/aplasia 1 [RCV001106291] Chr10:43129381 [GRCh38]
Chr10:43624829 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.307C>T (p.His103Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002319675]|Multiple endocrine neoplasia, type 2 [RCV001211530] Chr10:43100692 [GRCh38]
Chr10:43596140 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.204G>A (p.Leu68=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014197]|Multiple endocrine neoplasia, type 2 [RCV002549403] Chr10:43100589 [GRCh38]
Chr10:43596037 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2051C>T (p.Pro684Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014208]|Multiple endocrine neoplasia, type 2 [RCV001362263] Chr10:43114651 [GRCh38]
Chr10:43610099 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*1900C>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001106590]|Multiple endocrine neoplasia [RCV001106588]|Pheochromocytoma [RCV001106587]|Renal hypodysplasia/aplasia 1 [RCV001106589] Chr10:43130169 [GRCh38]
Chr10:43625617 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1057G>T (p.Asp353Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001040385] Chr10:43106565 [GRCh38]
Chr10:43602013 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.551C>T (p.Thr184Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348771]|Multiple endocrine neoplasia, type 2 [RCV001229092] Chr10:43102555 [GRCh38]
Chr10:43598003 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2234A>G (p.His745Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014895]|Multiple endocrine neoplasia, type 2 [RCV001053447] Chr10:43116681 [GRCh38]
Chr10:43612129 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2343G>A (p.Gln781=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015239]|Multiple endocrine neoplasia, type 2 [RCV002068902] Chr10:43118431 [GRCh38]
Chr10:43613879 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.938G>T (p.Arg313Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001055064]|not specified [RCV002249661] Chr10:43106446 [GRCh38]
Chr10:43601894 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2365A>C (p.Lys789Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015295] Chr10:43118453 [GRCh38]
Chr10:43613901 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2451C>T (p.Arg817=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015586]|Multiple endocrine neoplasia, type 2 [RCV001069907] Chr10:43119589 [GRCh38]
Chr10:43615037 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2478C>T (p.Tyr826=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015659]|Multiple endocrine neoplasia, type 2 [RCV001418969] Chr10:43119616 [GRCh38]
Chr10:43615064 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2561T>C (p.Phe854Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429903]|Multiple endocrine neoplasia, type 2 [RCV001212918]|Multiple endocrine neoplasia, type 2b [RCV003315447] Chr10:43119699 [GRCh38]
Chr10:43615147 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2188C>G (p.Leu730Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001213228] Chr10:43116635 [GRCh38]
Chr10:43612083 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1249C>G (p.Arg417Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010560]|Multiple endocrine neoplasia, type 2 [RCV001040897] Chr10:43109216 [GRCh38]
Chr10:43604664 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2551C>T (p.Leu851Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015907]|Multiple endocrine neoplasia, type 2 [RCV001071392] Chr10:43119689 [GRCh38]
Chr10:43615137 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2638A>G (p.Ile880Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016157] Chr10:43120111 [GRCh38]
Chr10:43615559 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3031A>G (p.Lys1011Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436972]|Hirschsprung disease, susceptibility to, 1 [RCV002491845]|Multiple endocrine neoplasia, type 2 [RCV001247959] Chr10:43124974 [GRCh38]
Chr10:43620422 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.273C>T (p.Asp91=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016454]|Multiple endocrine neoplasia, type 2 [RCV001447171] Chr10:43100658 [GRCh38]
Chr10:43596106 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1562T>C (p.Val521Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001205005] Chr10:43112138 [GRCh38]
Chr10:43607586 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1427C>T (p.Pro476Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001205035] Chr10:43111370 [GRCh38]
Chr10:43606818 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2284+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003373026]|Multiple endocrine neoplasia, type 2 [RCV001205038] Chr10:43116734 [GRCh38]
Chr10:43612182 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1021C>G (p.Gln341Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017030]|Multiple endocrine neoplasia, type 2 [RCV001051706] Chr10:43106529 [GRCh38]
Chr10:43601977 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1039G>C (p.Val347Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017119]|not provided [RCV003238828] Chr10:43106547 [GRCh38]
Chr10:43601995 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1519T>A (p.Ser507Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001216176] Chr10:43111462 [GRCh38]
Chr10:43606910 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.842C>G (p.Ala281Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001216177] Chr10:43105168 [GRCh38]
Chr10:43600616 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1984A>G (p.Lys662Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001204011] Chr10:43114584 [GRCh38]
Chr10:43610032 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.136G>T (p.Ala46Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011183] Chr10:43100521 [GRCh38]
Chr10:43595969 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1372G>T (p.Ala458Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011241] Chr10:43111315 [GRCh38]
Chr10:43606763 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1130A>G (p.Asn377Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017398]|Multiple endocrine neoplasia, type 2 [RCV002549453] Chr10:43109097 [GRCh38]
Chr10:43604545 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1141T>C (p.Phe381Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017444]|Multiple endocrine neoplasia, type 2 [RCV001062743]|Multiple endocrine neoplasia, type 2a [RCV003328101]|not provided [RCV003132142] Chr10:43109108 [GRCh38]
Chr10:43604556 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.294C>T (p.Asn98=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017629]|Multiple endocrine neoplasia, type 2 [RCV002068953] Chr10:43100679 [GRCh38]
Chr10:43596127 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1460C>G (p.Ala487Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001211017] Chr10:43111403 [GRCh38]
Chr10:43606851 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1407C>T (p.Asp469=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011415]|Multiple endocrine neoplasia, type 2 [RCV001467677] Chr10:43111350 [GRCh38]
Chr10:43606798 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2987C>T (p.Pro996Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017799]|Multiple endocrine neoplasia, type 2 [RCV001299872] Chr10:43124930 [GRCh38]
Chr10:43620378 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.849G>A (p.Val283=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017914]|Multiple endocrine neoplasia, type 2 [RCV002550834] Chr10:43105175 [GRCh38]
Chr10:43600623 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.300C>T (p.Ser100=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018022]|Multiple endocrine neoplasia, type 2 [RCV002068960] Chr10:43100685 [GRCh38]
Chr10:43596133 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2393-5C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001047950] Chr10:43119526 [GRCh38]
Chr10:43614974 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.40_41insGGTTGC (p.Leu13_Leu14insArgLeu) insertion Multiple endocrine neoplasia, type 2 [RCV001214248] Chr10:43077295..43077296 [GRCh38]
Chr10:43572743..43572744 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3033GAG[1] (p.Arg1013del) microsatellite Hereditary cancer-predisposing syndrome [RCV002436826]|Multiple endocrine neoplasia, type 2 [RCV001215707] Chr10:43124976..43124978 [GRCh38]
Chr10:43620424..43620426 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2524G>A (p.Asp842Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001215753] Chr10:43119662 [GRCh38]
Chr10:43615110 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.644G>A (p.Arg215His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025279]|Multiple endocrine neoplasia, type 2 [RCV002552395] Chr10:43104970 [GRCh38]
Chr10:43600418 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.885G>A (p.Thr295=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018418]|Multiple endocrine neoplasia, type 2 [RCV001436543] Chr10:43106393 [GRCh38]
Chr10:43601841 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3078C>T (p.Ser1026=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018498]|Multiple endocrine neoplasia, type 2 [RCV001395252] Chr10:43126613 [GRCh38]
Chr10:43622061 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.890G>A (p.Arg297His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018506]|Hirschsprung disease, susceptibility to, 1 [RCV002489523]|Multiple endocrine neoplasia, type 2 [RCV001344857] Chr10:43106398 [GRCh38]
Chr10:43601846 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3188-3del deletion Multiple endocrine neoplasia, type 2 [RCV001211952] Chr10:43128105 [GRCh38]
Chr10:43623553 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2771T>A (p.Phe924Tyr) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV003462594]|Multiple endocrine neoplasia, type 2 [RCV001063040] Chr10:43121986 [GRCh38]
Chr10:43617434 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1568A>G (p.Lys523Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012171]|Multiple endocrine neoplasia, type 2 [RCV002549359] Chr10:43112144 [GRCh38]
Chr10:43607592 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3141C>A (p.Pro1047=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018790]|Multiple endocrine neoplasia, type 2 [RCV002549485] Chr10:43126676 [GRCh38]
Chr10:43622124 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1661A>G (p.Asn554Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012562] Chr10:43112865 [GRCh38]
Chr10:43608313 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1684A>C (p.Thr562Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012719]|Multiple endocrine neoplasia, type 2 [RCV001862791] Chr10:43112888 [GRCh38]
Chr10:43608336 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2443T>C (p.Phe815Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001215544] Chr10:43119581 [GRCh38]
Chr10:43615029 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.646T>C (p.Cys216Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001063578] Chr10:43104972 [GRCh38]
Chr10:43600420 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1717G>A (p.Val573Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012856]|Multiple endocrine neoplasia, type 2 [RCV001071883]|not provided [RCV003480903] Chr10:43112921 [GRCh38]
Chr10:43608369 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1725C>G (p.Thr575=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012904]|Multiple endocrine neoplasia, type 2 [RCV003106094] Chr10:43112929 [GRCh38]
Chr10:43608377 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1759C>T (p.Arg587Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013052]|Multiple endocrine neoplasia, type 2 [RCV001321545] Chr10:43112963 [GRCh38]
Chr10:43608411 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1773T>C (p.Val591=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013066]|Multiple endocrine neoplasia, type 2 [RCV001476090] Chr10:43113569 [GRCh38]
Chr10:43609017 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.*500C>G single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001105069]|Multiple endocrine neoplasia [RCV001105068]|Pheochromocytoma [RCV001105066]|Renal hypodysplasia/aplasia 1 [RCV001105067] Chr10:43128769 [GRCh38]
Chr10:43624217 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1409C>T (p.Thr470Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001053492] Chr10:43111352 [GRCh38]
Chr10:43606800 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1893_1898del (p.Asp631_Leu633delinsGlu) deletion Multiple endocrine neoplasia, type 2b [RCV001267832] Chr10:43114493..43114498 [GRCh38]
Chr10:43609941..43609946 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.2481G>A (p.Leu827=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001304557] Chr10:43119619 [GRCh38]
Chr10:43615067 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3173A>G (p.Glu1058Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322295]|Multiple endocrine neoplasia, type 2 [RCV001348294] Chr10:43126708 [GRCh38]
Chr10:43622156 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.824G>C (p.Gly275Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001303022] Chr10:43105150 [GRCh38]
Chr10:43600598 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.324G>C (p.Lys108Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166716]|Multiple endocrine neoplasia, type 2 [RCV001303789] Chr10:43100709 [GRCh38]
Chr10:43596157 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.870C>G (p.Asp290Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001889117] Chr10:43106378 [GRCh38]
Chr10:43601826 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.199C>G (p.Arg67Gly) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001292753] Chr10:43100584 [GRCh38]
Chr10:43596032 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2164A>G (p.Lys722Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431987]|Hirschsprung disease, susceptibility to, 1 [RCV003469583]|Multiple endocrine neoplasia, type 2 [RCV001349402] Chr10:43116611 [GRCh38]
Chr10:43612059 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1996A>C (p.Lys666Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420753]|Multiple endocrine neoplasia, type 2 [RCV001349419] Chr10:43114596 [GRCh38]
Chr10:43610044 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3222dup (p.Val1075fs) duplication Multiple endocrine neoplasia, type 2 [RCV001879982]|Multiple endocrine neoplasia, type 2b [RCV001258057] Chr10:43128145..43128146 [GRCh38]
Chr10:43623593..43623594 [GRCh37]
Chr10:10q11.21
likely pathogenic|uncertain significance
NM_020975.6(RET):c.565C>T (p.Arg189Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350650]|Hirschsprung disease, susceptibility to, 1 [RCV002493796]|Multiple endocrine neoplasia, type 2 [RCV001349277] Chr10:43102569 [GRCh38]
Chr10:43598017 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3342T>G (p.Ser1114Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001889485] Chr10:43128266 [GRCh38]
Chr10:43623714 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1287C>A (p.Asn429Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001341632] Chr10:43111230 [GRCh38]
Chr10:43606678 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3311C>T (p.Ser1104Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001326837] Chr10:43128235 [GRCh38]
Chr10:43623683 [GRCh37]
Chr10:10q11.21
uncertain significance
NC_000010.10:g.(?_43572512)_(43623725_?)dup duplication Multiple endocrine neoplasia, type 2 [RCV001316560] Chr10:43572512..43623725 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3337G>A (p.Asp1113Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322237]|Multiple endocrine neoplasia, type 2 [RCV001319033] Chr10:43128261 [GRCh38]
Chr10:43623709 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.422G>C (p.Gly141Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327641]|Multiple endocrine neoplasia, type 2 [RCV001298652] Chr10:43102426 [GRCh38]
Chr10:43597874 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1639G>A (p.Asp547Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001298666] Chr10:43112215 [GRCh38]
Chr10:43607663 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1046C>G (p.Ala349Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002402888]|Multiple endocrine neoplasia, type 2 [RCV001319210] Chr10:43106554 [GRCh38]
Chr10:43602002 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3148C>T (p.Arg1050Ter) single nucleotide variant Appendicitis [RCV001289999]|not provided [RCV001819981] Chr10:43126683 [GRCh38]
Chr10:43622131 [GRCh37]
Chr10:10q11.21
likely pathogenic|uncertain significance
NM_020975.6(RET):c.2604G>A (p.Met868Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001299149] Chr10:43119742 [GRCh38]
Chr10:43615190 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3277G>A (p.Asp1093Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001295799] Chr10:43128201 [GRCh38]
Chr10:43623649 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1828A>C (p.Asn610His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411977]|Hirschsprung disease, susceptibility to, 1 [RCV001535690]|Hirschsprung disease, susceptibility to, 1 [RCV001824949]|Multiple endocrine neoplasia, type 2 [RCV001305413] Chr10:43113624 [GRCh38]
Chr10:43609072 [GRCh37]
Chr10:10q11.21
uncertain significance|not provided
NM_020975.6(RET):c.1310A>G (p.Asn437Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001341732] Chr10:43111253 [GRCh38]
Chr10:43606701 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.29G>A (p.Gly10Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438769]|Multiple endocrine neoplasia, type 2 [RCV001338708] Chr10:43077287 [GRCh38]
Chr10:43572735 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1942G>T (p.Val648Phe) single nucleotide variant Familial medullary thyroid carcinoma [RCV001292634]|Multiple endocrine neoplasia, type 2 [RCV001863171]|not provided [RCV003223715] Chr10:43114542 [GRCh38]
Chr10:43609990 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3305C>T (p.Ser1102Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001301643] Chr10:43128229 [GRCh38]
Chr10:43623677 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3196G>A (p.Asp1066Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322285]|Multiple endocrine neoplasia, type 2 [RCV001343022] Chr10:43128120 [GRCh38]
Chr10:43623568 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1594G>A (p.Gly532Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001343208] Chr10:43112170 [GRCh38]
Chr10:43607618 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2728C>G (p.Gln910Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430115]|Multiple endocrine neoplasia, type 2 [RCV001306513] Chr10:43120201 [GRCh38]
Chr10:43615649 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1865_1866delinsTT (p.Pro622Leu) indel Multiple endocrine neoplasia, type 2 [RCV001313360] Chr10:43113661..43113662 [GRCh38]
Chr10:43609109..43609110 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1467C>G (p.Asp489Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393699]|Multiple endocrine neoplasia, type 2 [RCV001297345] Chr10:43111410 [GRCh38]
Chr10:43606858 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.99_100del (p.Asp34fs) deletion Colorectal cancer [RCV001293844] Chr10:43100483..43100484 [GRCh38]
Chr10:43595931..43595932 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1821C>T (p.Gly607=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412070]|Multiple endocrine neoplasia, type 2 [RCV001340820]|RET-related condition [RCV003898325] Chr10:43113617 [GRCh38]
Chr10:43609065 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.349C>T (p.Pro117Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001306090] Chr10:43102353 [GRCh38]
Chr10:43597801 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1348A>G (p.Ser450Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001343600] Chr10:43111291 [GRCh38]
Chr10:43606739 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1910T>G (p.Val637Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001321771] Chr10:43114510 [GRCh38]
Chr10:43609958 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1727A>G (p.Gln576Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001295568] Chr10:43112931 [GRCh38]
Chr10:43608379 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.212A>G (p.His71Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001299944] Chr10:43100597 [GRCh38]
Chr10:43596045 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.936G>A (p.Arg312=) single nucleotide variant not provided [RCV001310572] Chr10:43106444 [GRCh38]
Chr10:43601892 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.455C>T (p.Thr152Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001322029] Chr10:43102459 [GRCh38]
Chr10:43597907 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1882C>T (p.Pro628Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001313212] Chr10:43114482 [GRCh38]
Chr10:43609930 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1614A>G (p.Thr538=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001422949] Chr10:43112190 [GRCh38]
Chr10:43607638 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.855C>G (p.Phe285Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447271]|Multiple endocrine neoplasia, type 2 [RCV001297059] Chr10:43105181 [GRCh38]
Chr10:43600629 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.387C>T (p.Pro129=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368297]|Multiple endocrine neoplasia, type 2 [RCV001415011] Chr10:43102391 [GRCh38]
Chr10:43597839 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1479T>C (p.Ser493=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001397375] Chr10:43111422 [GRCh38]
Chr10:43606870 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1764C>A (p.Gly588=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404920]|Multiple endocrine neoplasia, type 2 [RCV001396934] Chr10:43113560 [GRCh38]
Chr10:43609008 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3280A>G (p.Ser1094Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447337]|Multiple endocrine neoplasia, type 2 [RCV001315998] Chr10:43128204 [GRCh38]
Chr10:43623652 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2789C>T (p.Thr930Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001338176] Chr10:43122004 [GRCh38]
Chr10:43617452 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.475T>A (p.Ser159Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341761]|Multiple endocrine neoplasia, type 2 [RCV001361533] Chr10:43102479 [GRCh38]
Chr10:43597927 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2229C>T (p.Ala743=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432203]|Multiple endocrine neoplasia, type 2 [RCV001433121] Chr10:43116676 [GRCh38]
Chr10:43612124 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2871T>C (p.Pro957=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438895]|Multiple endocrine neoplasia, type 2 [RCV001391918] Chr10:43123740 [GRCh38]
Chr10:43619188 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2137-13A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002070089]|not provided [RCV001289029] Chr10:43116571 [GRCh38]
Chr10:43612019 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2112C>G (p.Val704=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001396785] Chr10:43114712 [GRCh38]
Chr10:43610160 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.675G>C (p.Thr225=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001433421] Chr10:43105001 [GRCh38]
Chr10:43600449 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2954T>G (p.Leu985Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169740]|Multiple endocrine neoplasia, type 2 [RCV001351105] Chr10:43124897 [GRCh38]
Chr10:43620345 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3187+7T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001422719] Chr10:43126729 [GRCh38]
Chr10:43622177 [GRCh37]
Chr10:10q11.21
likely benign
NC_000010.10:g.(?_43617300)_(43623793_?)dup duplication Multiple endocrine neoplasia, type 2 [RCV001316561] Chr10:43617300..43623793 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1326G>A (p.Leu442=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384556]|Multiple endocrine neoplasia, type 2 [RCV001392203] Chr10:43111269 [GRCh38]
Chr10:43606717 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2297C>G (p.Pro766Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001359730] Chr10:43118385 [GRCh38]
Chr10:43613833 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1710C>T (p.Cys570=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002259120]|Multiple endocrine neoplasia, type 2 [RCV001422454] Chr10:43112914 [GRCh38]
Chr10:43608362 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2655G>A (p.Gly885=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456718]|Multiple endocrine neoplasia, type 2 [RCV001433889] Chr10:43120128 [GRCh38]
Chr10:43615576 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.636G>C (p.Leu212=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368237]|Multiple endocrine neoplasia, type 2 [RCV001392606] Chr10:43104962 [GRCh38]
Chr10:43600410 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1617C>A (p.Gly539=) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002493973]|Multiple endocrine neoplasia, type 2 [RCV001413705] Chr10:43112193 [GRCh38]
Chr10:43607641 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.363C>T (p.Val121=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350854]|Multiple endocrine neoplasia, type 2 [RCV001433471] Chr10:43102367 [GRCh38]
Chr10:43597815 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2765C>T (p.Ser922Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001312406] Chr10:43121980 [GRCh38]
Chr10:43617428 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2284+6_2284+7del deletion Multiple endocrine neoplasia, type 2 [RCV001371069] Chr10:43116737..43116738 [GRCh38]
Chr10:43612185..43612186 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.555C>T (p.Phe185=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350741]|Multiple endocrine neoplasia, type 2 [RCV001392655] Chr10:43102559 [GRCh38]
Chr10:43598007 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3112A>T (p.Thr1038Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001360302] Chr10:43126647 [GRCh38]
Chr10:43622095 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1203C>T (p.Ser401=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350742]|Multiple endocrine neoplasia, type 2 [RCV001392680]|not provided [RCV002476736] Chr10:43109170 [GRCh38]
Chr10:43604618 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2068T>G (p.Ser690Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001351508] Chr10:43114668 [GRCh38]
Chr10:43610116 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1450A>T (p.Met484Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002395852]|Multiple endocrine neoplasia, type 2 [RCV001373575] Chr10:43111393 [GRCh38]
Chr10:43606841 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.738C>T (p.His246=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384625]|Multiple endocrine neoplasia, type 2 [RCV001422481] Chr10:43105064 [GRCh38]
Chr10:43600512 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.445TTC[1] (p.Phe150del) microsatellite Hereditary cancer-predisposing syndrome [RCV002329267]|Hirschsprung disease, susceptibility to, 1 [RCV002476466]|Multiple endocrine neoplasia, type 2 [RCV001315295] Chr10:43102448..43102450 [GRCh38]
Chr10:43597896..43597898 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1289G>A (p.Cys430Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001371900] Chr10:43111232 [GRCh38]
Chr10:43606680 [GRCh37]
Chr10:10q11.21
uncertain significance
NC_000010.10:g.(?_43572512)_(43596180_?)dup duplication Multiple endocrine neoplasia, type 2 [RCV001362984] Chr10:43572512..43596180 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2222C>G (p.Ala741Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169685]|Multiple endocrine neoplasia, type 2 [RCV001346340] Chr10:43116669 [GRCh38]
Chr10:43612117 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.319G>A (p.Glu107Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001373522]|not provided [RCV003227033] Chr10:43100704 [GRCh38]
Chr10:43596152 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2557T>C (p.Ser853Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001364112] Chr10:43119695 [GRCh38]
Chr10:43615143 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2945G>T (p.Arg982Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437045]|Multiple endocrine neoplasia, type 2 [RCV001306371] Chr10:43124888 [GRCh38]
Chr10:43620336 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.865G>C (p.Glu289Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001343531] Chr10:43105191 [GRCh38]
Chr10:43600639 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.760G>C (p.Val254Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003355409]|Multiple endocrine neoplasia, type 2 [RCV001343573] Chr10:43105086 [GRCh38]
Chr10:43600534 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1994A>G (p.His665Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419019]|Multiple endocrine neoplasia, type 2 [RCV001344753] Chr10:43114594 [GRCh38]
Chr10:43610042 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.385C>G (p.Pro129Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001364945] Chr10:43102389 [GRCh38]
Chr10:43597837 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2412G>A (p.Val804=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255182]|Multiple endocrine neoplasia, type 2 [RCV001337765] Chr10:43119550 [GRCh38]
Chr10:43614998 [GRCh37]
Chr10:10q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.2267C>G (p.Ala756Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001327281] Chr10:43116714 [GRCh38]
Chr10:43612162 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3163A>C (p.Thr1055Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322273]|Multiple endocrine neoplasia, type 2 [RCV001338647] Chr10:43126698 [GRCh38]
Chr10:43622146 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3316G>A (p.Ala1106Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001342127] Chr10:43128240 [GRCh38]
Chr10:43623688 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2108A>G (p.Gln703Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001320143] Chr10:43114708 [GRCh38]
Chr10:43610156 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1683C>A (p.Ser561Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001301596] Chr10:43112887 [GRCh38]
Chr10:43608335 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.10G>A (p.Ala4Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003382525]|Multiple endocrine neoplasia, type 2 [RCV001323974] Chr10:43077268 [GRCh38]
Chr10:43572716 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.35_55dup (p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu) duplication Hereditary cancer-predisposing syndrome [RCV002456583]|Multiple endocrine neoplasia, type 2 [RCV001371496] Chr10:43077287..43077288 [GRCh38]
Chr10:43572735..43572736 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1460C>T (p.Ala487Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001369803] Chr10:43111403 [GRCh38]
Chr10:43606851 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1042C>T (p.Arg348Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393740]|Multiple endocrine neoplasia, type 2 [RCV001309730] Chr10:43106550 [GRCh38]
Chr10:43601998 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.193A>G (p.Ser65Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413150] Chr10:43100578 [GRCh38]
Chr10:43596026 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1537G>A (p.Ala513Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001315791] Chr10:43112113 [GRCh38]
Chr10:43607561 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2039C>T (p.Ala680Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001318861] Chr10:43114639 [GRCh38]
Chr10:43610087 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.566G>T (p.Arg189Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350583]|Multiple endocrine neoplasia, type 2 [RCV001318862] Chr10:43102570 [GRCh38]
Chr10:43598018 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1697C>T (p.Pro566Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001320361] Chr10:43112901 [GRCh38]
Chr10:43608349 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.5_28dup (p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla) duplication Hereditary cancer-predisposing syndrome [RCV002350589]|Multiple endocrine neoplasia, type 2 [RCV001320496]|not specified [RCV003321826] Chr10:43077260..43077261 [GRCh38]
Chr10:43572708..43572709 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1046C>T (p.Ala349Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001368398] Chr10:43106554 [GRCh38]
Chr10:43602002 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.242A>G (p.His81Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375272]|Multiple endocrine neoplasia, type 2 [RCV001374121] Chr10:43100627 [GRCh38]
Chr10:43596075 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3137C>A (p.Ala1046Asp) single nucleotide variant Familial medullary thyroid carcinoma [RCV001292752]|Hirschsprung disease, susceptibility to, 1 [RCV003469509]|Multiple endocrine neoplasia, type 2 [RCV002538416] Chr10:43126672 [GRCh38]
Chr10:43622120 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1579G>A (p.Glu527Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001320756] Chr10:43112155 [GRCh38]
Chr10:43607603 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2779A>C (p.Ile927Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001320770] Chr10:43121994 [GRCh38]
Chr10:43617442 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.959C>T (p.Pro320Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384426]|Multiple endocrine neoplasia, type 2 [RCV001323360]|Ovarian cancer [RCV003153993] Chr10:43106467 [GRCh38]
Chr10:43601915 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.202C>A (p.Leu68Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001369848] Chr10:43100587 [GRCh38]
Chr10:43596035 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.712G>A (p.Glu238Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377452]|Multiple endocrine neoplasia, type 2 [RCV001342764] Chr10:43105038 [GRCh38]
Chr10:43600486 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1108A>G (p.Met370Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456489]|Multiple endocrine neoplasia, type 2 [RCV001344262] Chr10:43109075 [GRCh38]
Chr10:43604523 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1804A>T (p.Ile602Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412084]|Multiple endocrine neoplasia, type 2 [RCV001345270] Chr10:43113600 [GRCh38]
Chr10:43609048 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3056C>G (p.Ala1019Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001363474] Chr10:43126591 [GRCh38]
Chr10:43622039 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.743G>C (p.Gly248Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384466]|Multiple endocrine neoplasia, type 2 [RCV001342912] Chr10:43105069 [GRCh38]
Chr10:43600517 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3180A>T (p.Lys1060Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001345317] Chr10:43126715 [GRCh38]
Chr10:43622163 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3106G>A (p.Glu1036Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001345327] Chr10:43126641 [GRCh38]
Chr10:43622089 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2734C>T (p.Arg912Trp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001363564] Chr10:43121949 [GRCh38]
Chr10:43617397 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.751G>A (p.Glu251Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001340115]|not provided [RCV003442860] Chr10:43105077 [GRCh38]
Chr10:43600525 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1076A>T (p.Asn359Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001309049] Chr10:43109043 [GRCh38]
Chr10:43604491 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.394C>G (p.Leu132Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169784]|Multiple endocrine neoplasia, type 2 [RCV001359793] Chr10:43102398 [GRCh38]
Chr10:43597846 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3187G>A (p.Gly1063Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001308240] Chr10:43126722 [GRCh38]
Chr10:43622170 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.50T>C (p.Leu17Pro) single nucleotide variant Breast carcinoma [RCV002245970]|Multiple endocrine neoplasia, type 2 [RCV001343082] Chr10:43077308 [GRCh38]
Chr10:43572756 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2890C>G (p.Leu964Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001373146] Chr10:43123759 [GRCh38]
Chr10:43619207 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1842G>A (p.Glu614=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413881]|Multiple endocrine neoplasia, type 2 [RCV001368213] Chr10:43113638 [GRCh38]
Chr10:43609086 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2245A>G (p.Arg749Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419017]|Multiple endocrine neoplasia, type 2 [RCV001344497] Chr10:43116692 [GRCh38]
Chr10:43612140 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.35_52dup (p.Leu17_Leu18insArgLeuLeuLeuLeuLeu) duplication Hereditary cancer-predisposing syndrome [RCV002456553]|Multiple endocrine neoplasia, type 2 [RCV001362298] Chr10:43077287..43077288 [GRCh38]
Chr10:43572735..43572736 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2464G>T (p.Val822Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447268]|Multiple endocrine neoplasia, type 2 [RCV001296673] Chr10:43119602 [GRCh38]
Chr10:43615050 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.137C>T (p.Ala46Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001318344] Chr10:43100522 [GRCh38]
Chr10:43595970 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.916G>T (p.Ala306Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001321383] Chr10:43106424 [GRCh38]
Chr10:43601872 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2900G>A (p.Gly967Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001345629] Chr10:43123769 [GRCh38]
Chr10:43619217 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1058A>C (p.Asp353Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001306400] Chr10:43106566 [GRCh38]
Chr10:43602014 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3089ACG[1] (p.Asp1031del) microsatellite Multiple endocrine neoplasia, type 2 [RCV001338079] Chr10:43126623..43126625 [GRCh38]
Chr10:43622071..43622073 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.664G>A (p.Glu222Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001308859]|not provided [RCV003229888] Chr10:43104990 [GRCh38]
Chr10:43600438 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3057G>T (p.Ala1019=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001395647] Chr10:43126592 [GRCh38]
Chr10:43622040 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2936A>G (p.Glu979Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001313973] Chr10:43123805 [GRCh38]
Chr10:43619253 [GRCh37]
Chr10:10q11.21
uncertain significance
NC_000010.10:g.(?_43613811)_(43623725_?)dup duplication Multiple endocrine neoplasia, type 2 [RCV001305484] Chr10:43613811..43623725 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1971C>G (p.Ile657Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001371373] Chr10:43114571 [GRCh38]
Chr10:43610019 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.16T>C (p.Ser6Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001309613] Chr10:43077274 [GRCh38]
Chr10:43572722 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1098G>C (p.Glu366Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001880196]|not provided [RCV001269685] Chr10:43109065 [GRCh38]
Chr10:43604513 [GRCh37]
Chr10:10q11.21
pathogenic|uncertain significance
NM_020975.6(RET):c.3095G>A (p.Gly1032Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001306015] Chr10:43126630 [GRCh38]
Chr10:43622078 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.452A>T (p.Asn151Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341583]|Hirschsprung disease, susceptibility to, 1 [RCV002476383]|Multiple endocrine neoplasia, type 2 [RCV001297473] Chr10:43102456 [GRCh38]
Chr10:43597904 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.19G>A (p.Gly7Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003373102]|Multiple endocrine neoplasia, type 2 [RCV001297483] Chr10:43077277 [GRCh38]
Chr10:43572725 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2416T>C (p.Tyr806His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447379]|Multiple endocrine neoplasia, type 2 [RCV001327277] Chr10:43119554 [GRCh38]
Chr10:43615002 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3124G>A (p.Asp1042Asn) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002493565]|Hirschsprung disease, susceptibility to, 1 [RCV003462858]|Multiple endocrine neoplasia, type 2 [RCV001297527] Chr10:43126659 [GRCh38]
Chr10:43622107 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1017G>T (p.Ser339=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001396373] Chr10:43106525 [GRCh38]
Chr10:43601973 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3051C>G (p.Asp1017Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001367397] Chr10:43126586 [GRCh38]
Chr10:43622034 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.172G>A (p.Asp58Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001369346] Chr10:43100557 [GRCh38]
Chr10:43596005 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3020A>C (p.Lys1007Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001307727] Chr10:43124963 [GRCh38]
Chr10:43620411 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3151G>A (p.Ala1051Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001360911] Chr10:43126686 [GRCh38]
Chr10:43622134 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3162C>G (p.Ser1054=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001394769] Chr10:43126697 [GRCh38]
Chr10:43622145 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2054T>C (p.Val685Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420826]|Multiple endocrine neoplasia, type 2 [RCV001369956] Chr10:43114654 [GRCh38]
Chr10:43610102 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3138_3139delinsTT (p.Pro1047Ser) indel Hereditary cancer-predisposing syndrome [RCV002322227]|Multiple endocrine neoplasia, type 2 [RCV001316238] Chr10:43126673..43126674 [GRCh38]
Chr10:43622121..43622122 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3247_3254del (p.Thr1083fs) deletion Multiple endocrine neoplasia, type 2 [RCV001316280] Chr10:43128170..43128177 [GRCh38]
Chr10:43623618..43623625 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2583G>T (p.Gly861=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430120]|Multiple endocrine neoplasia, type 2 [RCV001307974] Chr10:43119721 [GRCh38]
Chr10:43615169 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1358G>C (p.Gly453Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384381]|Multiple endocrine neoplasia, type 2 [RCV001308114] Chr10:43111301 [GRCh38]
Chr10:43606749 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.160C>T (p.His54Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001365644] Chr10:43100545 [GRCh38]
Chr10:43595993 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2574C>T (p.Ile858=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001494874] Chr10:43119712 [GRCh38]
Chr10:43615160 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1509A>T (p.Thr503=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002395965]|Multiple endocrine neoplasia, type 2 [RCV001421701] Chr10:43111452 [GRCh38]
Chr10:43606900 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1985A>G (p.Lys662Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001339448] Chr10:43114585 [GRCh38]
Chr10:43610033 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2257A>G (p.Thr753Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001317383] Chr10:43116704 [GRCh38]
Chr10:43612152 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.357C>T (p.Leu119=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456658]|Multiple endocrine neoplasia, type 2 [RCV001413106] Chr10:43102361 [GRCh38]
Chr10:43597809 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2507G>A (p.Ser836Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001365983] Chr10:43119645 [GRCh38]
Chr10:43615093 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.96G>T (p.Ser32=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001490144] Chr10:43100481 [GRCh38]
Chr10:43595929 [GRCh37]
Chr10:10q11.21
likely benign
NC_000010.10:g.(?_43595901)_(43598083_?)del deletion Multiple endocrine neoplasia, type 2 [RCV001377670] Chr10:43595901..43598083 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.3081G>A (p.Leu1027=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001494544] Chr10:43126616 [GRCh38]
Chr10:43622064 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1458G>A (p.Val486=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396096]|Multiple endocrine neoplasia, type 2 [RCV001464293] Chr10:43111401 [GRCh38]
Chr10:43606849 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.957C>T (p.Leu319=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001499462] Chr10:43106465 [GRCh38]
Chr10:43601913 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1264-4dup duplication Multiple endocrine neoplasia, type 2 [RCV001515665] Chr10:43111197..43111198 [GRCh38]
Chr10:43606645..43606646 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2073T>C (p.Gly691=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421035]|Multiple endocrine neoplasia, type 2 [RCV001457944] Chr10:43114673 [GRCh38]
Chr10:43610121 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.867+10C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001470189] Chr10:43105203 [GRCh38]
Chr10:43600651 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+10G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001478650] Chr10:43077341 [GRCh38]
Chr10:43572789 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2393-4C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001487707] Chr10:43119527 [GRCh38]
Chr10:43614975 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2238G>A (p.Leu746=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432213]|Multiple endocrine neoplasia, type 2 [RCV001436244] Chr10:43116685 [GRCh38]
Chr10:43612133 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.337+12_337+14del microsatellite Multiple endocrine neoplasia, type 2 [RCV001441671] Chr10:43100731..43100733 [GRCh38]
Chr10:43596179..43596181 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2319G>A (p.Leu773=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449234]|Multiple endocrine neoplasia, type 2 [RCV001461636] Chr10:43118407 [GRCh38]
Chr10:43613855 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1264-9C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001436386] Chr10:43111198 [GRCh38]
Chr10:43606646 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1648+7C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001470975] Chr10:43112231 [GRCh38]
Chr10:43607679 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2742A>C (p.Pro914=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001428427] Chr10:43121957 [GRCh38]
Chr10:43617405 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.960C>T (p.Pro320=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384644]|Hirschsprung disease, susceptibility to, 1 [RCV002504708]|Multiple endocrine neoplasia, type 2 [RCV001430908]|not specified [RCV001732182] Chr10:43106468 [GRCh38]
Chr10:43601916 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.2112C>T (p.Val704=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001405400] Chr10:43114712 [GRCh38]
Chr10:43610160 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.657C>T (p.Asp219=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001431139] Chr10:43104983 [GRCh38]
Chr10:43600431 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2457C>T (p.Ser819=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432120]|Multiple endocrine neoplasia, type 2 [RCV001405618] Chr10:43119595 [GRCh38]
Chr10:43615043 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1064-10C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001491497] Chr10:43109021 [GRCh38]
Chr10:43604469 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2238G>T (p.Leu746=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420993]|Multiple endocrine neoplasia, type 2 [RCV001439604] Chr10:43116685 [GRCh38]
Chr10:43612133 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3234G>A (p.Thr1078=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324065]|Multiple endocrine neoplasia, type 2 [RCV001479514] Chr10:43128158 [GRCh38]
Chr10:43623606 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2607+10T>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001455649] Chr10:43119755 [GRCh38]
Chr10:43615203 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1170G>A (p.Leu390=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001492883] Chr10:43109137 [GRCh38]
Chr10:43604585 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2757A>G (p.Ala919=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439032]|Multiple endocrine neoplasia, type 2 [RCV001439665] Chr10:43121972 [GRCh38]
Chr10:43617420 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1879+8G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001442323] Chr10:43113683 [GRCh38]
Chr10:43609131 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2487T>C (p.Ser829=) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002476781]|Multiple endocrine neoplasia, type 2 [RCV001471905] Chr10:43119625 [GRCh38]
Chr10:43615073 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3198C>T (p.Asp1066=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322462]|Multiple endocrine neoplasia, type 2 [RCV001439759] Chr10:43128122 [GRCh38]
Chr10:43623570 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2583G>A (p.Gly861=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160976]|Multiple endocrine neoplasia, type 2 [RCV001489384] Chr10:43119721 [GRCh38]
Chr10:43615169 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1215C>T (p.Pro405=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358954]|Multiple endocrine neoplasia, type 2 [RCV001426659]|not provided [RCV001531682] Chr10:43109182 [GRCh38]
Chr10:43604630 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.963G>A (p.Gly321=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001442723] Chr10:43106471 [GRCh38]
Chr10:43601919 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1107C>T (p.Thr369=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432122]|Multiple endocrine neoplasia, type 2 [RCV001406182] Chr10:43109074 [GRCh38]
Chr10:43604522 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.162T>C (p.His54=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001485924] Chr10:43100547 [GRCh38]
Chr10:43595995 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.966C>T (p.Asp322=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001501489] Chr10:43106474 [GRCh38]
Chr10:43601922 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1245G>A (p.Arg415=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002395900]|Multiple endocrine neoplasia, type 2 [RCV001398354] Chr10:43109212 [GRCh38]
Chr10:43604660 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2634A>G (p.Arg878=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001463648] Chr10:43120107 [GRCh38]
Chr10:43615555 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.990G>C (p.Arg330=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001463649] Chr10:43106498 [GRCh38]
Chr10:43601946 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.63G>A (p.Leu21=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375312]|Multiple endocrine neoplasia, type 2 [RCV001468919] Chr10:43077321 [GRCh38]
Chr10:43572769 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.996A>G (p.Glu332=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298870]|Multiple endocrine neoplasia, type 2 [RCV001491989] Chr10:43106504 [GRCh38]
Chr10:43601952 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2730+12del deletion Multiple endocrine neoplasia, type 2 [RCV001493535] Chr10:43120213 [GRCh38]
Chr10:43615661 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.153G>A (p.Leu51=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405151]|Multiple endocrine neoplasia, type 2 [RCV001490066]|RET-related condition [RCV003900692] Chr10:43100538 [GRCh38]
Chr10:43595986 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.338-6C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001493646] Chr10:43102336 [GRCh38]
Chr10:43597784 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.180T>G (p.Pro60=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001424401] Chr10:43100565 [GRCh38]
Chr10:43596013 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2393-8G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001409269] Chr10:43119523 [GRCh38]
Chr10:43614971 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.678C>T (p.Arg226=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368358]|Multiple endocrine neoplasia, type 2 [RCV001440935] Chr10:43105004 [GRCh38]
Chr10:43600452 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.561G>A (p.Gln187=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350810]|Multiple endocrine neoplasia, type 2 [RCV001418407] Chr10:43102565 [GRCh38]
Chr10:43598013 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.661C>T (p.Leu221=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001437102] Chr10:43104987 [GRCh38]
Chr10:43600435 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2448C>T (p.Leu816=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258255]|Multiple endocrine neoplasia, type 2 [RCV001437183] Chr10:43119586 [GRCh38]
Chr10:43615034 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.723C>A (p.Ala241=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377662]|Multiple endocrine neoplasia, type 2 [RCV001419910]|not provided [RCV003456494] Chr10:43105049 [GRCh38]
Chr10:43600497 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2393-8G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001428046] Chr10:43119523 [GRCh38]
Chr10:43614971 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1263+9A>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001446313] Chr10:43109239 [GRCh38]
Chr10:43604687 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.229C>T (p.Arg77Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001381227] Chr10:43100614 [GRCh38]
Chr10:43596062 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.61C>T (p.Leu21=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357336]|Multiple endocrine neoplasia, type 2 [RCV001403324] Chr10:43077319 [GRCh38]
Chr10:43572767 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2939+10G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001448995] Chr10:43123818 [GRCh38]
Chr10:43619266 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.621G>A (p.Leu207=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368370]|Multiple endocrine neoplasia, type 2 [RCV001444048] Chr10:43102625 [GRCh38]
Chr10:43598073 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.900T>C (p.Asp300=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001446759] Chr10:43106408 [GRCh38]
Chr10:43601856 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.450C>T (p.Phe150=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001446773] Chr10:43102454 [GRCh38]
Chr10:43597902 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.43T>C (p.Leu15=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329490]|Multiple endocrine neoplasia, type 2 [RCV001439108] Chr10:43077301 [GRCh38]
Chr10:43572749 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.318G>A (p.Trp106Ter) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001381565] Chr10:43100703 [GRCh38]
Chr10:43596151 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.2406C>T (p.Leu802=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001393185] Chr10:43119544 [GRCh38]
Chr10:43614992 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1164C>T (p.Val388=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298736]|Multiple endocrine neoplasia, type 2 [RCV001431360] Chr10:43109131 [GRCh38]
Chr10:43604579 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2649T>A (p.Ala883=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298666]|Multiple endocrine neoplasia, type 2 [RCV001405793] Chr10:43120122 [GRCh38]
Chr10:43615570 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+8C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001434624] Chr10:43077339 [GRCh38]
Chr10:43572787 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2985G>A (p.Arg995=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003355457]|Hirschsprung disease, susceptibility to, 1 [RCV002499850]|Multiple endocrine neoplasia, type 2 [RCV001401269] Chr10:43124928 [GRCh38]
Chr10:43620376 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.396T>C (p.Leu132=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001445121] Chr10:43102400 [GRCh38]
Chr10:43597848 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2049C>T (p.Phe683=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169957]|Multiple endocrine neoplasia, type 2 [RCV001393676]|RET-related condition [RCV003963256] Chr10:43114649 [GRCh38]
Chr10:43610097 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.898G>A (p.Asp300Asn) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV001376021] Chr10:43106406 [GRCh38]
Chr10:43601854 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3051C>T (p.Asp1017=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449164]|Multiple endocrine neoplasia, type 2 [RCV001429732] Chr10:43126586 [GRCh38]
Chr10:43622034 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1522+7G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001448217] Chr10:43111472 [GRCh38]
Chr10:43606920 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1962C>A (p.Ala654=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421012]|Multiple endocrine neoplasia, type 2 [RCV001448319] Chr10:43114562 [GRCh38]
Chr10:43610010 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.462T>C (p.Phe154=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001416642] Chr10:43102466 [GRCh38]
Chr10:43597914 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1880-8dup duplication Multiple endocrine neoplasia, type 2 [RCV001440771] Chr10:43114471..43114472 [GRCh38]
Chr10:43609919..43609920 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.52C>T (p.Leu18=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001409358] Chr10:43077310 [GRCh38]
Chr10:43572758 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1347C>T (p.Cys449=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001501987] Chr10:43111290 [GRCh38]
Chr10:43606738 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+9189C>A single nucleotide variant not provided [RCV001715166] Chr10:43086520 [GRCh38]
Chr10:43581968 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2643G>A (p.Leu881=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424945]|Multiple endocrine neoplasia, type 2 [RCV001506279] Chr10:43120116 [GRCh38]
Chr10:43615564 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2976G>C (p.Pro992=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439178]|Multiple endocrine neoplasia, type 2 [RCV001490400] Chr10:43124919 [GRCh38]
Chr10:43620367 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2598C>G (p.Ala866=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432251]|Multiple endocrine neoplasia, type 2 [RCV001450494] Chr10:43119736 [GRCh38]
Chr10:43615184 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3040-311A>G single nucleotide variant not provided [RCV001679655] Chr10:43126264 [GRCh38]
Chr10:43621712 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.135A>T (p.Ala45=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001495944] Chr10:43100520 [GRCh38]
Chr10:43595968 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.279C>A (p.Gly93=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298886]|Multiple endocrine neoplasia, type 2 [RCV001495876] Chr10:43100664 [GRCh38]
Chr10:43596112 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.114G>A (p.Glu38=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458480]|Multiple endocrine neoplasia, type 2 [RCV001502993] Chr10:43100499 [GRCh38]
Chr10:43595947 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.74-57del deletion not provided [RCV001671067] Chr10:43100389 [GRCh38]
Chr10:43595837 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.1522+308C>G single nucleotide variant not provided [RCV001674152] Chr10:43111773 [GRCh38]
Chr10:43607221 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.868-4G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001451796] Chr10:43106372 [GRCh38]
Chr10:43601820 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.-68C>T single nucleotide variant not provided [RCV001611274] Chr10:43077191 [GRCh38]
Chr10:43572639 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.73+188G>A single nucleotide variant not provided [RCV001587090] Chr10:43077519 [GRCh38]
Chr10:43572967 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.867+166G>A single nucleotide variant not provided [RCV001586863] Chr10:43105359 [GRCh38]
Chr10:43600807 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2133C>T (p.Ile711=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001476987] Chr10:43114733 [GRCh38]
Chr10:43610181 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1425G>A (p.Arg475=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001453135] Chr10:43111368 [GRCh38]
Chr10:43606816 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1551G>A (p.Leu517=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001459858] Chr10:43112127 [GRCh38]
Chr10:43607575 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.337+10C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001460537] Chr10:43100732 [GRCh38]
Chr10:43596180 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.69C>G (p.Gly23=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368463]|Multiple endocrine neoplasia, type 2 [RCV001477925] Chr10:43077327 [GRCh38]
Chr10:43572775 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.783C>T (p.Thr261=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414100]|Multiple endocrine neoplasia, type 2 [RCV001460303] Chr10:43105109 [GRCh38]
Chr10:43600557 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1760-57G>T single nucleotide variant not provided [RCV001678631] Chr10:43113499 [GRCh38]
Chr10:43608947 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2730+257C>T single nucleotide variant not provided [RCV001654933] Chr10:43120460 [GRCh38]
Chr10:43615908 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2801+72G>A single nucleotide variant not provided [RCV001716727] Chr10:43122088 [GRCh38]
Chr10:43617536 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.3039+9del deletion Multiple endocrine neoplasia, type 2 [RCV001481154] Chr10:43124990 [GRCh38]
Chr10:43620438 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1176C>T (p.His392=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160832]|Multiple endocrine neoplasia, type 2 [RCV001453585] Chr10:43109143 [GRCh38]
Chr10:43604591 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+173_73+174insCGGGCGGCG microsatellite not provided [RCV001710329] Chr10:43077503..43077504 [GRCh38]
Chr10:43572951..43572952 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2172G>A (p.Leu724=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001461078] Chr10:43116619 [GRCh38]
Chr10:43612067 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2839C>T (p.Leu947=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439110]|Multiple endocrine neoplasia, type 2 [RCV001467389] Chr10:43123708 [GRCh38]
Chr10:43619156 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3249T>C (p.Thr1083=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001505401] Chr10:43128173 [GRCh38]
Chr10:43623621 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.981G>A (p.Gln327=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160959]|Multiple endocrine neoplasia, type 2 [RCV001485254] Chr10:43106489 [GRCh38]
Chr10:43601937 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2511C>T (p.Ser837=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001478367] Chr10:43119649 [GRCh38]
Chr10:43615097 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2064C>T (p.Ser688=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001472685] Chr10:43114664 [GRCh38]
Chr10:43610112 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2553C>T (p.Leu851=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298706]|Multiple endocrine neoplasia, type 2 [RCV001419034] Chr10:43119691 [GRCh38]
Chr10:43615139 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2991G>A (p.Val997=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160675]|Multiple endocrine neoplasia, type 2 [RCV001417391] Chr10:43124934 [GRCh38]
Chr10:43620382 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2787C>A (p.Thr929=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439081]|Multiple endocrine neoplasia, type 2 [RCV001457439] Chr10:43122002 [GRCh38]
Chr10:43617450 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2940-4C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001427118] Chr10:43124879 [GRCh38]
Chr10:43620327 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1884A>G (p.Pro628=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001477808] Chr10:43114484 [GRCh38]
Chr10:43609932 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1233C>T (p.Ser411=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377756]|Multiple endocrine neoplasia, type 2 [RCV001455460] Chr10:43109200 [GRCh38]
Chr10:43604648 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2061C>T (p.Tyr687=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001451339] Chr10:43114661 [GRCh38]
Chr10:43610109 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.276C>G (p.Thr92=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298836]|Multiple endocrine neoplasia, type 2 [RCV001477153]|not specified [RCV001820174] Chr10:43100661 [GRCh38]
Chr10:43596109 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.483G>A (p.Lys161=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001440055] Chr10:43102487 [GRCh38]
Chr10:43597935 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1731C>T (p.Asp577=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001440190] Chr10:43112935 [GRCh38]
Chr10:43608383 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2394C>G (p.Gly798=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001406235] Chr10:43119532 [GRCh38]
Chr10:43614980 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2940-8C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001468851] Chr10:43124875 [GRCh38]
Chr10:43620323 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1149C>A (p.Gly383=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001476258] Chr10:43109116 [GRCh38]
Chr10:43604564 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1417C>T (p.Leu473=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001505135] Chr10:43111360 [GRCh38]
Chr10:43606808 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2619G>A (p.Arg873=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456680]|Multiple endocrine neoplasia, type 2 [RCV001419588] Chr10:43120092 [GRCh38]
Chr10:43615540 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3201G>C (p.Pro1067=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322506]|Multiple endocrine neoplasia, type 2 [RCV001461698] Chr10:43128125 [GRCh38]
Chr10:43623573 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1880-9C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001423255] Chr10:43114471 [GRCh38]
Chr10:43609919 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3075C>T (p.Asp1025=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001483527] Chr10:43126610 [GRCh38]
Chr10:43622058 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3069A>T (p.Pro1023=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001438499] Chr10:43126604 [GRCh38]
Chr10:43622052 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2700T>C (p.Tyr900=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432185]|Hirschsprung disease, susceptibility to, 1 [RCV002504705]|Multiple endocrine neoplasia, type 2 [RCV001427792] Chr10:43120173 [GRCh38]
Chr10:43615621 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.846G>C (p.Val282=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449171]|Multiple endocrine neoplasia, type 2 [RCV001432581] Chr10:43105172 [GRCh38]
Chr10:43600620 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1522+2T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001376832] Chr10:43111467 [GRCh38]
Chr10:43606915 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.2349C>T (p.Asn783=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449136]|Multiple endocrine neoplasia, type 2 [RCV001417946] Chr10:43118437 [GRCh38]
Chr10:43613885 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.626-9G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001400416] Chr10:43104943 [GRCh38]
Chr10:43600391 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.586T>C (p.Leu196=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160786]|Multiple endocrine neoplasia, type 2 [RCV001443693] Chr10:43102590 [GRCh38]
Chr10:43598038 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1911G>T (p.Val637=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414030]|Multiple endocrine neoplasia, type 2 [RCV001434610] Chr10:43114511 [GRCh38]
Chr10:43609959 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2385C>T (p.Ser795=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456855]|Multiple endocrine neoplasia, type 2 [RCV001485359] Chr10:43118473 [GRCh38]
Chr10:43613921 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2376G>A (p.Gly792=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001418584] Chr10:43118464 [GRCh38]
Chr10:43613912 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.438C>T (p.Tyr146=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160702]|Multiple endocrine neoplasia, type 2 [RCV001424390] Chr10:43102442 [GRCh38]
Chr10:43597890 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.147C>T (p.Pro49=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002395998]|Multiple endocrine neoplasia, type 2 [RCV001435404] Chr10:43100532 [GRCh38]
Chr10:43595980 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1329T>C (p.His443=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001427071] Chr10:43111272 [GRCh38]
Chr10:43606720 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2136+7G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003108397] Chr10:43114743 [GRCh38]
Chr10:43610191 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2029C>A (p.Arg677=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256977]|Multiple endocrine neoplasia, type 2 [RCV003101403] Chr10:43114629 [GRCh38]
Chr10:43610077 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1468C>G (p.Gln490Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003094041]|not specified [RCV002246798] Chr10:43111411 [GRCh38]
Chr10:43606859 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.1264-6C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002259176]|Multiple endocrine neoplasia, type 2 [RCV003101401] Chr10:43111201 [GRCh38]
Chr10:43606649 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2801+17C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002074052]|not provided [RCV003237663] Chr10:43122033 [GRCh38]
Chr10:43617481 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1349G>T (p.Ser450Ile) single nucleotide variant not provided [RCV003237665] Chr10:43111292 [GRCh38]
Chr10:43606740 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1232C>G (p.Ser411Cys) single nucleotide variant Familial medullary thyroid carcinoma [RCV001788940]|Hereditary cancer-predisposing syndrome [RCV002370319]|Multiple endocrine neoplasia, type 2 [RCV003533030] Chr10:43109199 [GRCh38]
Chr10:43604647 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.867+9C>T single nucleotide variant not provided [RCV003237662] Chr10:43105202 [GRCh38]
Chr10:43600650 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.-6C>T single nucleotide variant not provided [RCV001779783] Chr10:43077253 [GRCh38]
Chr10:43572701 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1633C>A (p.Gln545Lys) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV003464130]|Multiple endocrine neoplasia, type 2 [RCV003645899]|not provided [RCV001763677] Chr10:43112209 [GRCh38]
Chr10:43607657 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2781C>G (p.Ile927Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003772304]|not specified [RCV001819606] Chr10:43121996 [GRCh38]
Chr10:43617444 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1902_1903delinsTT (p.Arg635Cys) indel not specified [RCV001817765] Chr10:43114502..43114503 [GRCh38]
Chr10:43609950..43609951 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2802-11A>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002077297]|not specified [RCV001819662] Chr10:43123660 [GRCh38]
Chr10:43619108 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2935G>A (p.Glu979Lys) single nucleotide variant not specified [RCV001820549] Chr10:43123804 [GRCh38]
Chr10:43619252 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2915G>A (p.Arg972Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440893]|Multiple endocrine neoplasia, type 2 [RCV001869748]|not specified [RCV001822369] Chr10:43123784 [GRCh38]
Chr10:43619232 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2332G>T (p.Val778Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002045273] Chr10:43118420 [GRCh38]
Chr10:43613868 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1977C>G (p.Cys659Trp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001893394] Chr10:43114577 [GRCh38]
Chr10:43610025 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1706A>G (p.His569Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397970]|Multiple endocrine neoplasia, type 2 [RCV001948777] Chr10:43112910 [GRCh38]
Chr10:43608358 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1238G>A (p.Ser413Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001930088] Chr10:43109205 [GRCh38]
Chr10:43604653 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1279G>T (p.Val427Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001912202] Chr10:43111222 [GRCh38]
Chr10:43606670 [GRCh37]
Chr10:10q11.21
uncertain significance
NC_000010.10:g.(?_43595897)_(43623725_?)dup duplication Multiple endocrine neoplasia, type 2 [RCV001969856] Chr10:43595897..43623725 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.29G>C (p.Gly10Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001949764] Chr10:43077287 [GRCh38]
Chr10:43572735 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1462A>G (p.Thr488Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002021978] Chr10:43111405 [GRCh38]
Chr10:43606853 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2489G>A (p.Gly830Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003355727]|Multiple endocrine neoplasia, type 2 [RCV002021983] Chr10:43119627 [GRCh38]
Chr10:43615075 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3179A>G (p.Lys1060Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324280]|Hirschsprung disease, susceptibility to, 1 [RCV002503483]|Multiple endocrine neoplasia, type 2 [RCV001871332] Chr10:43126714 [GRCh38]
Chr10:43622162 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2457C>G (p.Ser819Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442988]|Multiple endocrine neoplasia, type 2 [RCV002025033] Chr10:43119595 [GRCh38]
Chr10:43615043 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2045C>T (p.Ala682Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001896894] Chr10:43114645 [GRCh38]
Chr10:43610093 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1577T>A (p.Leu526Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002025433] Chr10:43112153 [GRCh38]
Chr10:43607601 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.133G>A (p.Ala45Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001950668] Chr10:43100518 [GRCh38]
Chr10:43595966 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1902_1903inv (p.Cys634_Arg635delinsTrpGly) inversion Multiple endocrine neoplasia, type 2 [RCV001949601] Chr10:43114502..43114503 [GRCh38]
Chr10:43609950..43609951 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1064G>A (p.Arg355Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001970642] Chr10:43109031 [GRCh38]
Chr10:43604479 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1367C>G (p.Thr456Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001864585] Chr10:43111310 [GRCh38]
Chr10:43606758 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2255A>G (p.Tyr752Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001896932] Chr10:43116702 [GRCh38]
Chr10:43612150 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1414G>A (p.Ala472Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001896925] Chr10:43111357 [GRCh38]
Chr10:43606805 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.671G>C (p.Ser224Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002025286] Chr10:43104997 [GRCh38]
Chr10:43600445 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3266G>T (p.Arg1089Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002024022] Chr10:43128190 [GRCh38]
Chr10:43623638 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3115C>A (p.Pro1039Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324350]|Multiple endocrine neoplasia, type 2 [RCV001964655] Chr10:43126650 [GRCh38]
Chr10:43622098 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.738C>A (p.His246Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001927375] Chr10:43105064 [GRCh38]
Chr10:43600512 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.485C>A (p.Pro162His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303561]|Multiple endocrine neoplasia, type 2 [RCV001988177] Chr10:43102489 [GRCh38]
Chr10:43597937 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2026T>C (p.Phe676Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423205]|Multiple endocrine neoplasia, type 2 [RCV001986158] Chr10:43114626 [GRCh38]
Chr10:43610074 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.838A>G (p.Ser280Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001970939] Chr10:43105164 [GRCh38]
Chr10:43600612 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3007A>G (p.Lys1003Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441132]|Multiple endocrine neoplasia, type 2 [RCV001971130] Chr10:43124950 [GRCh38]
Chr10:43620398 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.124G>T (p.Val42Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001891915] Chr10:43100509 [GRCh38]
Chr10:43595957 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3174A>C (p.Glu1058Asp) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002492018]|Multiple endocrine neoplasia, type 2 [RCV001987400] Chr10:43126709 [GRCh38]
Chr10:43622157 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.89A>G (p.Tyr30Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001914533] Chr10:43100474 [GRCh38]
Chr10:43595922 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.53T>C (p.Leu18Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344161]|Multiple endocrine neoplasia, type 2 [RCV001988207] Chr10:43077311 [GRCh38]
Chr10:43572759 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1553C>A (p.Ser518Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001949138] Chr10:43112129 [GRCh38]
Chr10:43607577 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1367C>T (p.Thr456Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386737]|Multiple endocrine neoplasia, type 2 [RCV001910673] Chr10:43111310 [GRCh38]
Chr10:43606758 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1816T>C (p.Tyr606His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001872471] Chr10:43113612 [GRCh38]
Chr10:43609060 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.101A>G (p.Asp34Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361178]|Multiple endocrine neoplasia, type 2 [RCV001896131] Chr10:43100486 [GRCh38]
Chr10:43595934 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1405G>A (p.Asp469Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388977]|Multiple endocrine neoplasia, type 2 [RCV001988226] Chr10:43111348 [GRCh38]
Chr10:43606796 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3038G>A (p.Arg1013Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001874619] Chr10:43124981 [GRCh38]
Chr10:43620429 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.895T>G (p.Phe299Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001930060] Chr10:43106403 [GRCh38]
Chr10:43601851 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3115C>G (p.Pro1039Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002005362] Chr10:43126650 [GRCh38]
Chr10:43622098 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1009G>C (p.Glu337Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441019]|Multiple endocrine neoplasia, type 2 [RCV001909737] Chr10:43106517 [GRCh38]
Chr10:43601965 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1730A>T (p.Asp577Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001967935] Chr10:43112934 [GRCh38]
Chr10:43608382 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1412A>C (p.Lys471Thr) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV003471200]|Multiple endocrine neoplasia, type 2 [RCV001983311] Chr10:43111355 [GRCh38]
Chr10:43606803 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2939+3G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002040541] Chr10:43123811 [GRCh38]
Chr10:43619259 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1879G>A (p.Asp627Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002039842] Chr10:43113675 [GRCh38]
Chr10:43609123 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2401C>G (p.Leu801Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001893120] Chr10:43119539 [GRCh38]
Chr10:43614987 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1463C>T (p.Thr488Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388985]|Multiple endocrine neoplasia, type 2 [RCV002005689] Chr10:43111406 [GRCh38]
Chr10:43606854 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1840GAG[4] (p.Glu616_Lys617insGlu) microsatellite Hereditary cancer-predisposing syndrome [RCV002407152]|Multiple endocrine neoplasia, type 2 [RCV001985125] Chr10:43113635..43113636 [GRCh38]
Chr10:43609083..43609084 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.657C>G (p.Asp219Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303490]|Hirschsprung disease, susceptibility to, 1 [RCV003471114]|Multiple endocrine neoplasia, type 2 [RCV002004945] Chr10:43104983 [GRCh38]
Chr10:43600431 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2644G>A (p.Val882Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001966786] Chr10:43120117 [GRCh38]
Chr10:43615565 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1064-10_1064-9insG insertion Multiple endocrine neoplasia, type 2 [RCV001966899] Chr10:43109021..43109022 [GRCh38]
Chr10:43604469..43604470 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1259C>G (p.Ala420Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001984113] Chr10:43109226 [GRCh38]
Chr10:43604674 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.346T>A (p.Phe116Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458712]|Multiple endocrine neoplasia, type 2 [RCV001892171] Chr10:43102350 [GRCh38]
Chr10:43597798 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1252C>T (p.Arg418Ter) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001908987]|RET-related condition [RCV003984140] Chr10:43109219 [GRCh38]
Chr10:43604667 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.2623T>G (p.Leu875Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258350]|Hirschsprung disease, susceptibility to, 1 [RCV003464359]|Multiple endocrine neoplasia, type 2 [RCV002003308] Chr10:43120096 [GRCh38]
Chr10:43615544 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2754G>A (p.Met918Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001967515] Chr10:43121969 [GRCh38]
Chr10:43617417 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2237T>C (p.Leu746Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001892821]|not provided [RCV002267128] Chr10:43116684 [GRCh38]
Chr10:43612132 [GRCh37]
Chr10:10q11.21
uncertain significance
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4 copy number gain Mosaic supernumerary isodicentric chromosome 10 [RCV001825164] Chr10:135655..47688677 [GRCh37]
Chr10:10p15.3-q11.22
not provided
NM_020975.6(RET):c.3007A>C (p.Lys1003Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002023613] Chr10:43124950 [GRCh38]
Chr10:43620398 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1732A>G (p.Ile578Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001894965] Chr10:43112936 [GRCh38]
Chr10:43608384 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.524G>A (p.Arg175His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002343890]|Multiple endocrine neoplasia, type 2 [RCV002044526] Chr10:43102528 [GRCh38]
Chr10:43597976 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1132G>A (p.Asp378Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002003646] Chr10:43109099 [GRCh38]
Chr10:43604547 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1315C>T (p.Gln439Ter) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002007525] Chr10:43111258 [GRCh38]
Chr10:43606706 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1037T>G (p.Phe346Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001913975] Chr10:43106545 [GRCh38]
Chr10:43601993 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.964G>T (p.Asp322Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002024092] Chr10:43106472 [GRCh38]
Chr10:43601920 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.274A>G (p.Thr92Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303592]|Multiple endocrine neoplasia, type 2 [RCV001984283]|not provided [RCV003107936] Chr10:43100659 [GRCh38]
Chr10:43596107 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.125T>C (p.Val42Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002022401] Chr10:43100510 [GRCh38]
Chr10:43595958 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3278A>G (p.Asp1093Gly) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV003471051]|Multiple endocrine neoplasia, type 2 [RCV001948016] Chr10:43128202 [GRCh38]
Chr10:43623650 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.43_44insGGC (p.Leu14_Leu15insTrp) insertion Multiple endocrine neoplasia, type 2 [RCV001908345] Chr10:43077301..43077302 [GRCh38]
Chr10:43572749..43572750 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.582G>C (p.Gln194His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003161167]|Multiple endocrine neoplasia, type 2 [RCV002004299] Chr10:43102586 [GRCh38]
Chr10:43598034 [GRCh37]
Chr10:10q11.21
uncertain significance
NC_000010.10:g.(?_43600390)_(43623725_?)dup duplication Multiple endocrine neoplasia, type 2 [RCV001912948] Chr10:43600390..43623725 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1905C>T (p.Arg635=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001910662] Chr10:43114505 [GRCh38]
Chr10:43609953 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2344G>A (p.Val782Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001928330] Chr10:43118432 [GRCh38]
Chr10:43613880 [GRCh37]
Chr10:10q11.21
uncertain significance
NC_000010.11:g.43126578_43126586del deletion Multiple endocrine neoplasia, type 2 [RCV001964913] Chr10:43126574..43126582 [GRCh38]
Chr10:43622022..43622030 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1577T>C (p.Leu526Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001872800] Chr10:43112153 [GRCh38]
Chr10:43607601 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.206G>A (p.Gly69Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001968569] Chr10:43100591 [GRCh38]
Chr10:43596039 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.371A>G (p.Lys124Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001894895] Chr10:43102375 [GRCh38]
Chr10:43597823 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3122T>C (p.Val1041Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001928395] Chr10:43126657 [GRCh38]
Chr10:43622105 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1978T>C (p.Tyr660His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001893754] Chr10:43114578 [GRCh38]
Chr10:43610026 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.14C>T (p.Thr5Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388990]|Multiple endocrine neoplasia, type 2 [RCV002003551] Chr10:43077272 [GRCh38]
Chr10:43572720 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2263G>A (p.Val755Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001870792] Chr10:43116710 [GRCh38]
Chr10:43612158 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1433G>A (p.Cys478Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389005]|Multiple endocrine neoplasia, type 2 [RCV001986833] Chr10:43111376 [GRCh38]
Chr10:43606824 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1757T>A (p.Leu586His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001927795] Chr10:43112961 [GRCh38]
Chr10:43608409 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1275C>G (p.Val425=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449595]|Multiple endocrine neoplasia, type 2 [RCV001964555] Chr10:43111218 [GRCh38]
Chr10:43606666 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.867+3G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370352]|Multiple endocrine neoplasia, type 2 [RCV002041494] Chr10:43105196 [GRCh38]
Chr10:43600644 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1420C>G (p.Arg474Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002023472] Chr10:43111363 [GRCh38]
Chr10:43606811 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1405G>T (p.Asp469Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002039809] Chr10:43111348 [GRCh38]
Chr10:43606796 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3298A>G (p.Met1100Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324512]|Multiple endocrine neoplasia, type 2 [RCV002036996] Chr10:43128222 [GRCh38]
Chr10:43623670 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.699G>T (p.Gln233His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001887499] Chr10:43105025 [GRCh38]
Chr10:43600473 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2464G>C (p.Val822Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449475]|Multiple endocrine neoplasia, type 2 [RCV001867194] Chr10:43119602 [GRCh38]
Chr10:43615050 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.34C>G (p.Arg12Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002049372] Chr10:43077292 [GRCh38]
Chr10:43572740 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.372G>C (p.Lys124Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001955747] Chr10:43102376 [GRCh38]
Chr10:43597824 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1928T>C (p.Leu643Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003355701]|Multiple endocrine neoplasia, type 2 [RCV001980044] Chr10:43114528 [GRCh38]
Chr10:43609976 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1339G>A (p.Ala447Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002038939] Chr10:43111282 [GRCh38]
Chr10:43606730 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1993C>T (p.His665Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001944610] Chr10:43114593 [GRCh38]
Chr10:43610041 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3040-2A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001961621] Chr10:43126573 [GRCh38]
Chr10:43622021 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.2967G>T (p.Lys989Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001978431] Chr10:43124910 [GRCh38]
Chr10:43620358 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1493C>G (p.Ala498Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002020176] Chr10:43111436 [GRCh38]
Chr10:43606884 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1879+3G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002001277] Chr10:43113678 [GRCh38]
Chr10:43609126 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2070C>A (p.Ser690=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002016370] Chr10:43114670 [GRCh38]
Chr10:43610118 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.959C>G (p.Pro320Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001944076] Chr10:43106467 [GRCh38]
Chr10:43601915 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3217_3218dup (p.Ser1073fs) microsatellite Hereditary cancer-predisposing syndrome [RCV002324360]|Multiple endocrine neoplasia, type 2 [RCV001944372] Chr10:43128135..43128136 [GRCh38]
Chr10:43623583..43623584 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1066C>A (p.Leu356Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001974412] Chr10:43109033 [GRCh38]
Chr10:43604481 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2608-16C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001962570] Chr10:43120065 [GRCh38]
Chr10:43615513 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2939+3G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441195]|Multiple endocrine neoplasia, type 2 [RCV002025999] Chr10:43123811 [GRCh38]
Chr10:43619259 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2802-7T>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001919671] Chr10:43123664 [GRCh38]
Chr10:43619112 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2705A>C (p.Glu902Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001937357] Chr10:43120178 [GRCh38]
Chr10:43615626 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1264-3T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003167360]|Multiple endocrine neoplasia, type 2 [RCV001941152] Chr10:43111204 [GRCh38]
Chr10:43606652 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3265A>G (p.Arg1089Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449446]|Multiple endocrine neoplasia, type 2 [RCV002037362] Chr10:43128189 [GRCh38]
Chr10:43623637 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1000T>C (p.Trp334Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003289381]|Multiple endocrine neoplasia, type 2 [RCV002035857] Chr10:43106508 [GRCh38]
Chr10:43601956 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3188-3T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001885488] Chr10:43128109 [GRCh38]
Chr10:43623557 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.451A>G (p.Asn151Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002331604]|Hirschsprung disease, susceptibility to, 1 [RCV003464379]|Multiple endocrine neoplasia, type 2 [RCV002020140]|not provided [RCV003313260] Chr10:43102455 [GRCh38]
Chr10:43597903 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3219T>A (p.Ser1073Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001886982] Chr10:43128143 [GRCh38]
Chr10:43623591 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3094G>T (p.Gly1032Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002036208] Chr10:43126629 [GRCh38]
Chr10:43622077 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1464C>A (p.Thr488=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303300]|Multiple endocrine neoplasia, type 2 [RCV001887049] Chr10:43111407 [GRCh38]
Chr10:43606855 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1915G>T (p.Ala639Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001979626] Chr10:43114515 [GRCh38]
Chr10:43609963 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.44TGC[7] (p.Leu19_Pro20insLeuLeu) microsatellite Hereditary cancer-predisposing syndrome [RCV002343924]|Multiple endocrine neoplasia, type 2 [RCV001962282] Chr10:43077301..43077302 [GRCh38]
Chr10:43572749..43572750 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.569TGC[1] (p.Leu191del) microsatellite Multiple endocrine neoplasia, type 2 [RCV001918926] Chr10:43102572..43102574 [GRCh38]
Chr10:43598020..43598022 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.613A>T (p.Arg205Trp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001943042] Chr10:43102617 [GRCh38]
Chr10:43598065 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.683C>A (p.Ala228Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001924109] Chr10:43105009 [GRCh38]
Chr10:43600457 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.100G>A (p.Asp34Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001934739] Chr10:43100485 [GRCh38]
Chr10:43595933 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1624G>A (p.Glu542Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001916480] Chr10:43112200 [GRCh38]
Chr10:43607648 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.400G>A (p.Glu134Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002028280] Chr10:43102404 [GRCh38]
Chr10:43597852 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.179C>T (p.Pro60Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407167]|Multiple endocrine neoplasia, type 2 [RCV002014565] Chr10:43100564 [GRCh38]
Chr10:43596012 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2480T>C (p.Leu827Pro) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002486763]|Hirschsprung disease, susceptibility to, 1 [RCV003464399]|Multiple endocrine neoplasia, type 2 [RCV002031063] Chr10:43119618 [GRCh38]
Chr10:43615066 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1655C>T (p.Thr552Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001878881] Chr10:43112859 [GRCh38]
Chr10:43608307 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2372A>G (p.Tyr791Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458927]|Multiple endocrine neoplasia, type 2 [RCV001976647] Chr10:43118460 [GRCh38]
Chr10:43613908 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2444T>G (p.Phe815Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001881713] Chr10:43119582 [GRCh38]
Chr10:43615030 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2519A>C (p.His840Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001866298] Chr10:43119657 [GRCh38]
Chr10:43615105 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.41T>C (p.Leu14Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001975787] Chr10:43077299 [GRCh38]
Chr10:43572747 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.394C>T (p.Leu132Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003161290]|Multiple endocrine neoplasia, type 2 [RCV002031113] Chr10:43102398 [GRCh38]
Chr10:43597846 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.350C>G (p.Pro117Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001991319] Chr10:43102354 [GRCh38]
Chr10:43597802 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3175A>C (p.Asn1059His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001975712] Chr10:43126710 [GRCh38]
Chr10:43622158 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2221G>A (p.Ala741Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001930271] Chr10:43116668 [GRCh38]
Chr10:43612116 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1175A>G (p.His392Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002028832] Chr10:43109142 [GRCh38]
Chr10:43604590 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.700C>T (p.Arg234Trp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002031720] Chr10:43105026 [GRCh38]
Chr10:43600474 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1207C>T (p.His403Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346332]|Multiple endocrine neoplasia, type 2 [RCV002032304] Chr10:43109174 [GRCh38]
Chr10:43604622 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.59C>T (p.Pro20Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002012141] Chr10:43077317 [GRCh38]
Chr10:43572765 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3146C>T (p.Pro1049Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001918339] Chr10:43126681 [GRCh38]
Chr10:43622129 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1521A>G (p.Ser507=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388928]|Multiple endocrine neoplasia, type 2 [RCV002014761] Chr10:43111464 [GRCh38]
Chr10:43606912 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.320A>G (p.Glu107Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001974620] Chr10:43100705 [GRCh38]
Chr10:43596153 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.614G>T (p.Arg205Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001934310] Chr10:43102618 [GRCh38]
Chr10:43598066 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3155T>C (p.Leu1052Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002030352] Chr10:43126690 [GRCh38]
Chr10:43622138 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3226C>T (p.Pro1076Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001881327] Chr10:43128150 [GRCh38]
Chr10:43623598 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2686T>A (p.Ser896Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001995315] Chr10:43120159 [GRCh38]
Chr10:43615607 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1982A>G (p.His661Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001869938] Chr10:43114582 [GRCh38]
Chr10:43610030 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.20G>T (p.Gly7Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001916021] Chr10:43077278 [GRCh38]
Chr10:43572726 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2076C>G (p.Ala692=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001880840] Chr10:43114676 [GRCh38]
Chr10:43610124 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.592C>T (p.Pro198Ser) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002484925]|Multiple endocrine neoplasia, type 2 [RCV001994251] Chr10:43102596 [GRCh38]
Chr10:43598044 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1846G>A (p.Glu616Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001877157] Chr10:43113642 [GRCh38]
Chr10:43609090 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1878G>C (p.Gln626His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001901332] Chr10:43113674 [GRCh38]
Chr10:43609122 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.795G>C (p.Glu265Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002016680] Chr10:43105121 [GRCh38]
Chr10:43600569 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.232A>C (p.Thr78Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001974930] Chr10:43100617 [GRCh38]
Chr10:43596065 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3166T>A (p.Trp1056Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001990871] Chr10:43126701 [GRCh38]
Chr10:43622149 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1991C>T (p.Ala664Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001992110] Chr10:43114591 [GRCh38]
Chr10:43610039 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2802A>T (p.Val934=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001882088] Chr10:43123671 [GRCh38]
Chr10:43619119 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.588G>C (p.Leu196Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256884]|Multiple endocrine neoplasia, type 2 [RCV002010146] Chr10:43102592 [GRCh38]
Chr10:43598040 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1486G>A (p.Ala496Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001900203] Chr10:43111429 [GRCh38]
Chr10:43606877 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3180A>C (p.Lys1060Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324313]|Multiple endocrine neoplasia, type 2 [RCV001937768] Chr10:43126715 [GRCh38]
Chr10:43622163 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.925G>A (p.Glu309Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002014243] Chr10:43106433 [GRCh38]
Chr10:43601881 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2653G>T (p.Gly885Trp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001883793] Chr10:43120126 [GRCh38]
Chr10:43615574 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1649-17C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002018817] Chr10:43112836 [GRCh38]
Chr10:43608284 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2427C>A (p.Tyr809Ter) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001906929] Chr10:43119565 [GRCh38]
Chr10:43615013 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1038C>G (p.Phe346Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002026964] Chr10:43106546 [GRCh38]
Chr10:43601994 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.44T>C (p.Leu15Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001933804] Chr10:43077302 [GRCh38]
Chr10:43572750 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2267C>A (p.Ala756Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001937906] Chr10:43116714 [GRCh38]
Chr10:43612162 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2503T>G (p.Ser835Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001972885] Chr10:43119641 [GRCh38]
Chr10:43615089 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3046T>A (p.Leu1016Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001991219] Chr10:43126581 [GRCh38]
Chr10:43622029 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1638A>T (p.Gly546=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002017719] Chr10:43112214 [GRCh38]
Chr10:43607662 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2501A>G (p.Asn834Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001867426] Chr10:43119639 [GRCh38]
Chr10:43615087 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2136+18G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001919388] Chr10:43114754 [GRCh38]
Chr10:43610202 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1528G>A (p.Ala510Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398110]|Multiple endocrine neoplasia, type 2 [RCV002048384] Chr10:43112104 [GRCh38]
Chr10:43607552 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2958A>G (p.Gln986=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441167]|Multiple endocrine neoplasia, type 2 [RCV001977032] Chr10:43124901 [GRCh38]
Chr10:43620349 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.3211G>A (p.Gly1071Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449503]|Multiple endocrine neoplasia, type 2 [RCV001867626] Chr10:43128135 [GRCh38]
Chr10:43623583 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2692G>C (p.Asp898His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001881677] Chr10:43120165 [GRCh38]
Chr10:43615613 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2107C>G (p.Gln703Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002017312] Chr10:43114707 [GRCh38]
Chr10:43610155 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2286G>T (p.Glu762Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002017866] Chr10:43118374 [GRCh38]
Chr10:43613822 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2998G>A (p.Asp1000Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003161285]|Multiple endocrine neoplasia, type 2 [RCV002046075] Chr10:43124941 [GRCh38]
Chr10:43620389 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1660A>G (p.Asn554Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003365520]|Multiple endocrine neoplasia, type 2 [RCV001919770] Chr10:43112864 [GRCh38]
Chr10:43608312 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1553C>T (p.Ser518Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002028830] Chr10:43112129 [GRCh38]
Chr10:43607577 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2801+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440989]|Multiple endocrine neoplasia, type 2 [RCV001919849] Chr10:43122019 [GRCh38]
Chr10:43617467 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1829A>G (p.Asn610Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407107]|Hirschsprung disease, susceptibility to, 1 [RCV002503651]|Multiple endocrine neoplasia, type 2 [RCV001952515] Chr10:43113625 [GRCh38]
Chr10:43609073 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2090T>C (p.Leu697Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002009728]|not specified [RCV002246636] Chr10:43114690 [GRCh38]
Chr10:43610138 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2479C>G (p.Leu827Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001994353] Chr10:43119617 [GRCh38]
Chr10:43615065 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1228C>T (p.Leu410Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361122]|Multiple endocrine neoplasia, type 2 [RCV001937590] Chr10:43109195 [GRCh38]
Chr10:43604643 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.659G>T (p.Ser220Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361155]|Multiple endocrine neoplasia, type 2 [RCV001897414] Chr10:43104985 [GRCh38]
Chr10:43600433 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1785G>T (p.Glu595Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407039]|Multiple endocrine neoplasia, type 2 [RCV001901361] Chr10:43113581 [GRCh38]
Chr10:43609029 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.649G>A (p.Ala217Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001879701] Chr10:43104975 [GRCh38]
Chr10:43600423 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2468G>A (p.Gly823Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001906762] Chr10:43119606 [GRCh38]
Chr10:43615054 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1328A>T (p.His443Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001904418] Chr10:43111271 [GRCh38]
Chr10:43606719 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1581G>C (p.Glu527Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002019236] Chr10:43112157 [GRCh38]
Chr10:43607605 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3121G>T (p.Val1041Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002017528] Chr10:43126656 [GRCh38]
Chr10:43622104 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1295_1296delinsGG (p.Ala432Gly) indel Multiple endocrine neoplasia, type 2 [RCV001980489] Chr10:43111238..43111239 [GRCh38]
Chr10:43606686..43606687 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2141A>C (p.Asp714Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002047894] Chr10:43116588 [GRCh38]
Chr10:43612036 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.35G>A (p.Arg12His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002014081] Chr10:43077293 [GRCh38]
Chr10:43572741 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2096C>T (p.Ser699Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001880920] Chr10:43114696 [GRCh38]
Chr10:43610144 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2210A>G (p.Lys737Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002016975] Chr10:43116657 [GRCh38]
Chr10:43612105 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2566T>G (p.Trp856Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425257]|Hirschsprung disease, susceptibility to, 1 [RCV003464245]|Multiple endocrine neoplasia, type 2 [RCV001923834] Chr10:43119704 [GRCh38]
Chr10:43615152 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1684A>T (p.Thr562Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001997182] Chr10:43112888 [GRCh38]
Chr10:43608336 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.682G>A (p.Ala228Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003164157]|Multiple endocrine neoplasia, type 2 [RCV001905352] Chr10:43105008 [GRCh38]
Chr10:43600456 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3169A>G (p.Ile1057Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001996692] Chr10:43126704 [GRCh38]
Chr10:43622152 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.815T>C (p.Phe272Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423021]|Multiple endocrine neoplasia, type 2 [RCV001938125] Chr10:43105141 [GRCh38]
Chr10:43600589 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1444C>T (p.His482Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388764]|Multiple endocrine neoplasia, type 2 [RCV001924742] Chr10:43111387 [GRCh38]
Chr10:43606835 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.161A>G (p.His54Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388812]|Multiple endocrine neoplasia, type 2 [RCV001906895]|not provided [RCV003442949] Chr10:43100546 [GRCh38]
Chr10:43595994 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.565C>G (p.Arg189Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002343970]|Multiple endocrine neoplasia, type 2 [RCV001884046] Chr10:43102569 [GRCh38]
Chr10:43598017 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.623A>C (p.Glu208Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001979796] Chr10:43102627 [GRCh38]
Chr10:43598075 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2419G>A (p.Ala807Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001924192] Chr10:43119557 [GRCh38]
Chr10:43615005 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2186C>T (p.Thr729Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002036538] Chr10:43116633 [GRCh38]
Chr10:43612081 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.317G>A (p.Trp106Ter) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001906653] Chr10:43100702 [GRCh38]
Chr10:43596150 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.265C>A (p.Gln89Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458735]|Multiple endocrine neoplasia, type 2 [RCV001878115]|not provided [RCV003442941] Chr10:43100650 [GRCh38]
Chr10:43596098 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3183C>G (p.Leu1061=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002031447] Chr10:43126718 [GRCh38]
Chr10:43622166 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.948C>T (p.Ser316=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002036082] Chr10:43106456 [GRCh38]
Chr10:43601904 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1769T>C (p.Ile590Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407296]|Multiple endocrine neoplasia, type 2 [RCV002011543] Chr10:43113565 [GRCh38]
Chr10:43609013 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1758C>T (p.Leu586=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001991690] Chr10:43112962 [GRCh38]
Chr10:43608410 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.535A>G (p.Asn179Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001990108] Chr10:43102539 [GRCh38]
Chr10:43597987 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.376T>C (p.Phe126Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002047968]|Ovarian cancer [RCV003154058] Chr10:43102380 [GRCh38]
Chr10:43597828 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.1792G>A (p.Glu598Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001954697] Chr10:43113588 [GRCh38]
Chr10:43609036 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.132G>C (p.Gln44His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002031622] Chr10:43100517 [GRCh38]
Chr10:43595965 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.561G>C (p.Gln187His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002011475] Chr10:43102565 [GRCh38]
Chr10:43598013 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2558C>T (p.Ser853Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441063]|Multiple endocrine neoplasia, type 2 [RCV001931529] Chr10:43119696 [GRCh38]
Chr10:43615144 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1277G>T (p.Cys426Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001904196] Chr10:43111220 [GRCh38]
Chr10:43606668 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.74-2A>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002010657] Chr10:43100457 [GRCh38]
Chr10:43595905 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.715C>G (p.Leu239Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003170257]|Multiple endocrine neoplasia, type 2 [RCV001973321] Chr10:43105041 [GRCh38]
Chr10:43600489 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3077C>T (p.Ser1026Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001899293] Chr10:43126612 [GRCh38]
Chr10:43622060 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.69C>T (p.Gly23=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001881409] Chr10:43077327 [GRCh38]
Chr10:43572775 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3172G>A (p.Glu1058Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001867472] Chr10:43126707 [GRCh38]
Chr10:43622155 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2992T>G (p.Phe998Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001921752] Chr10:43124935 [GRCh38]
Chr10:43620383 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1283A>G (p.Glu428Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001979250] Chr10:43111226 [GRCh38]
Chr10:43606674 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1613C>G (p.Thr538Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388888]|Multiple endocrine neoplasia, type 2 [RCV001955201] Chr10:43112189 [GRCh38]
Chr10:43607637 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1783G>C (p.Glu595Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV001935367] Chr10:43113579 [GRCh38]
Chr10:43609027 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.205G>A (p.Gly69Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002010267] Chr10:43100590 [GRCh38]
Chr10:43596038 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1516G>A (p.Gly506Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002049381] Chr10:43111459 [GRCh38]
Chr10:43606907 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2850C>T (p.Asn950=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307954]|Multiple endocrine neoplasia, type 2 [RCV002108093] Chr10:43123719 [GRCh38]
Chr10:43619167 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.868-19C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002168230] Chr10:43106357 [GRCh38]
Chr10:43601805 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.859C>A (p.Arg287=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002145004] Chr10:43105185 [GRCh38]
Chr10:43600633 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2832C>T (p.Ile944=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434500]|Multiple endocrine neoplasia, type 2 [RCV002109879]|not provided [RCV003418381] Chr10:43123701 [GRCh38]
Chr10:43619149 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3188-6T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002076427] Chr10:43128106 [GRCh38]
Chr10:43623554 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.868-18G>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002500395]|Multiple endocrine neoplasia, type 2 [RCV002185972] Chr10:43106358 [GRCh38]
Chr10:43601806 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2877G>T (p.Arg959=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002166244] Chr10:43123746 [GRCh38]
Chr10:43619194 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1416C>T (p.Ala472=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391308]|Multiple endocrine neoplasia, type 2 [RCV002124297] Chr10:43111359 [GRCh38]
Chr10:43606807 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2445C>T (p.Phe815=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443183]|Multiple endocrine neoplasia, type 2 [RCV002126838] Chr10:43119583 [GRCh38]
Chr10:43615031 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1879+18G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002486996]|Multiple endocrine neoplasia, type 2 [RCV002188903] Chr10:43113693 [GRCh38]
Chr10:43609141 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.735G>A (p.Val245=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002206096] Chr10:43105061 [GRCh38]
Chr10:43600509 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2137-19T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002074569] Chr10:43116565 [GRCh38]
Chr10:43612013 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2284+7G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002104534] Chr10:43116738 [GRCh38]
Chr10:43612186 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.975C>G (p.Ala325=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002166680] Chr10:43106483 [GRCh38]
Chr10:43601931 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2393-6C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002166882] Chr10:43119525 [GRCh38]
Chr10:43614973 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2393-19C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002107414] Chr10:43119512 [GRCh38]
Chr10:43614960 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.537C>T (p.Asn179=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002126153] Chr10:43102541 [GRCh38]
Chr10:43597989 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1230C>G (p.Leu410=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361428]|Hirschsprung disease, susceptibility to, 1 [RCV002494029]|Multiple endocrine neoplasia, type 2 [RCV002169435]|not provided [RCV003738129] Chr10:43109197 [GRCh38]
Chr10:43604645 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+8C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002169023] Chr10:43077339 [GRCh38]
Chr10:43572787 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2137-794T>C single nucleotide variant not provided [RCV002211145] Chr10:43115790 [GRCh38]
Chr10:43611238 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.2137-396G>A single nucleotide variant not provided [RCV002211146] Chr10:43116188 [GRCh38]
Chr10:43611636 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.2641C>T (p.Leu881=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002185373] Chr10:43120114 [GRCh38]
Chr10:43615562 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1488C>T (p.Ala496=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002125213] Chr10:43111431 [GRCh38]
Chr10:43606879 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2334C>G (p.Val778=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454454]|Multiple endocrine neoplasia, type 2 [RCV002109407] Chr10:43118422 [GRCh38]
Chr10:43613870 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.102T>C (p.Asp34=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002091376] Chr10:43100487 [GRCh38]
Chr10:43595935 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2939+13T>C single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002500007]|Multiple endocrine neoplasia, type 2 [RCV002129466] Chr10:43123821 [GRCh38]
Chr10:43619269 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2901C>T (p.Gly967=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434559]|Multiple endocrine neoplasia, type 2 [RCV002126204] Chr10:43123770 [GRCh38]
Chr10:43619218 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3162C>T (p.Ser1054=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003161506]|Multiple endocrine neoplasia, type 2 [RCV002107947] Chr10:43126697 [GRCh38]
Chr10:43622145 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2844G>A (p.Gly948=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003161521]|Multiple endocrine neoplasia, type 2 [RCV002127719] Chr10:43123713 [GRCh38]
Chr10:43619161 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1649-11G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002207980] Chr10:43112842 [GRCh38]
Chr10:43608290 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1880-15C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002192925] Chr10:43114465 [GRCh38]
Chr10:43609913 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1648+15C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002107843] Chr10:43112239 [GRCh38]
Chr10:43607687 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2802-20_2802-19delinsTT indel Multiple endocrine neoplasia, type 2 [RCV002192996] Chr10:43123651..43123652 [GRCh38]
Chr10:43619099..43619100 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1880-12C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002128478] Chr10:43114468 [GRCh38]
Chr10:43609916 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2137-13A>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002148201] Chr10:43116571 [GRCh38]
Chr10:43612019 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1760-20T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002148242] Chr10:43113536 [GRCh38]
Chr10:43608984 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2940-5A>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002086499] Chr10:43124878 [GRCh38]
Chr10:43620326 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.868-11G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002146776] Chr10:43106365 [GRCh38]
Chr10:43601813 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2922C>T (p.Asp974=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002091823] Chr10:43123791 [GRCh38]
Chr10:43619239 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1880-16C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002209035] Chr10:43114464 [GRCh38]
Chr10:43609912 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.2393-12C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002192696] Chr10:43119519 [GRCh38]
Chr10:43614967 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.338-25_338-17del deletion Multiple endocrine neoplasia, type 2 [RCV002185002] Chr10:43102315..43102323 [GRCh38]
Chr10:43597763..43597771 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.807G>A (p.Ala269=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002104938] Chr10:43105133 [GRCh38]
Chr10:43600581 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1264-15C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002104445] Chr10:43111192 [GRCh38]
Chr10:43606640 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.74-12_74-5del deletion Multiple endocrine neoplasia, type 2 [RCV002110456] Chr10:43100440..43100447 [GRCh38]
Chr10:43595888..43595895 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1851G>A (p.Lys617=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409517]|Multiple endocrine neoplasia, type 2 [RCV002127181] Chr10:43113647 [GRCh38]
Chr10:43609095 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1522+14C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002109145] Chr10:43111479 [GRCh38]
Chr10:43606927 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2608-19G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002167055] Chr10:43120062 [GRCh38]
Chr10:43615510 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1879+15G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002168803] Chr10:43113690 [GRCh38]
Chr10:43609138 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3188-19G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002089649] Chr10:43128093 [GRCh38]
Chr10:43623541 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2111T>C (p.Val704Ala) single nucleotide variant not provided [RCV002223636] Chr10:43114711 [GRCh38]
Chr10:43610159 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2433C>T (p.Ser811=) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002496125]|Multiple endocrine neoplasia, type 2 [RCV002191954] Chr10:43119571 [GRCh38]
Chr10:43615019 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1879+10T>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002145071] Chr10:43113685 [GRCh38]
Chr10:43609133 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2136+400T>C single nucleotide variant not provided [RCV002223358] Chr10:43115136 [GRCh38]
Chr10:43610584 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1880-18C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002208038] Chr10:43114462 [GRCh38]
Chr10:43609910 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2393-17C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002087373] Chr10:43119514 [GRCh38]
Chr10:43614962 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1263+19C>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002500351]|Multiple endocrine neoplasia, type 2 [RCV002166335] Chr10:43109249 [GRCh38]
Chr10:43604697 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2731-13A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002088703] Chr10:43121933 [GRCh38]
Chr10:43617381 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3040-4C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002147967] Chr10:43126571 [GRCh38]
Chr10:43622019 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2136+14C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002167497] Chr10:43114750 [GRCh38]
Chr10:43610198 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2137-7A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002210380] Chr10:43116577 [GRCh38]
Chr10:43612025 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.921A>T (p.Ser307=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002145423] Chr10:43106429 [GRCh38]
Chr10:43601877 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3187+12C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002144808] Chr10:43126734 [GRCh38]
Chr10:43622182 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1086C>G (p.Leu362=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002208315] Chr10:43109053 [GRCh38]
Chr10:43604501 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2392+17G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002104853] Chr10:43118497 [GRCh38]
Chr10:43613945 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1522+20A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002105781]|not specified [RCV002268616] Chr10:43111485 [GRCh38]
Chr10:43606933 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3040-19G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002075248] Chr10:43126556 [GRCh38]
Chr10:43622004 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1422G>T (p.Arg474=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002088652] Chr10:43111365 [GRCh38]
Chr10:43606813 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.639C>T (p.Pro213=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003161444]|Multiple endocrine neoplasia, type 2 [RCV002085362] Chr10:43104965 [GRCh38]
Chr10:43600413 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.828C>T (p.Val276=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427550]|Multiple endocrine neoplasia, type 2 [RCV002170086] Chr10:43105154 [GRCh38]
Chr10:43600602 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1522+18G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002091627] Chr10:43111483 [GRCh38]
Chr10:43606931 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2284+7G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002196112] Chr10:43116738 [GRCh38]
Chr10:43612186 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2608-19G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002173685] Chr10:43120062 [GRCh38]
Chr10:43615510 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1879+17del deletion Multiple endocrine neoplasia, type 2 [RCV002078409] Chr10:43113691 [GRCh38]
Chr10:43609139 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1522+13T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002145863] Chr10:43111478 [GRCh38]
Chr10:43606926 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2731-18A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002213467] Chr10:43121928 [GRCh38]
Chr10:43617376 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.868-4del deletion Multiple endocrine neoplasia, type 2 [RCV002080751] Chr10:43106372 [GRCh38]
Chr10:43601820 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.338-10C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002106355] Chr10:43102332 [GRCh38]
Chr10:43597780 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1880-13C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002094377] Chr10:43114467 [GRCh38]
Chr10:43609915 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1879+18G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002211592] Chr10:43113693 [GRCh38]
Chr10:43609141 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2802-17C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002147889] Chr10:43123654 [GRCh38]
Chr10:43619102 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.567C>T (p.Arg189=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002153184] Chr10:43102571 [GRCh38]
Chr10:43598019 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3040-17C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002076067] Chr10:43126558 [GRCh38]
Chr10:43622006 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.625+7G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002131227] Chr10:43102636 [GRCh38]
Chr10:43598084 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3138C>G (p.Ala1046=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002172995] Chr10:43126673 [GRCh38]
Chr10:43622121 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1759+10G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002212049] Chr10:43112973 [GRCh38]
Chr10:43608421 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2137-16C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002112830] Chr10:43116568 [GRCh38]
Chr10:43612016 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2137-18C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002128032] Chr10:43116566 [GRCh38]
Chr10:43612014 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2730+12C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002133021]|not specified [RCV002268623] Chr10:43120215 [GRCh38]
Chr10:43615663 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.626-19C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002132822] Chr10:43104933 [GRCh38]
Chr10:43600381 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2608-5C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002150147] Chr10:43120076 [GRCh38]
Chr10:43615524 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3040-8T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002116183] Chr10:43126567 [GRCh38]
Chr10:43622015 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2393-7C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002094473] Chr10:43119524 [GRCh38]
Chr10:43614972 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1123C>T (p.Leu375=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434526]|Multiple endocrine neoplasia, type 2 [RCV002152714] Chr10:43109090 [GRCh38]
Chr10:43604538 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1648+16G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002112098] Chr10:43112240 [GRCh38]
Chr10:43607688 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1380C>T (p.Asp460=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382335]|Multiple endocrine neoplasia, type 2 [RCV002097424] Chr10:43111323 [GRCh38]
Chr10:43606771 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.480C>G (p.Leu160=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337254]|Multiple endocrine neoplasia, type 2 [RCV002081060] Chr10:43102484 [GRCh38]
Chr10:43597932 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3040-13C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002085398] Chr10:43126562 [GRCh38]
Chr10:43622010 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2393-14C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002071772] Chr10:43119517 [GRCh38]
Chr10:43614965 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1338T>C (p.Gly446=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002213224] Chr10:43111281 [GRCh38]
Chr10:43606729 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2136+11C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002079074] Chr10:43114747 [GRCh38]
Chr10:43610195 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+17G>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002486878]|Multiple endocrine neoplasia, type 2 [RCV002096641] Chr10:43077348 [GRCh38]
Chr10:43572796 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1879+14G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002189415] Chr10:43113689 [GRCh38]
Chr10:43609137 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.78A>T (p.Ala26=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002112981] Chr10:43100463 [GRCh38]
Chr10:43595911 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2718G>T (p.Val906=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002151581] Chr10:43120191 [GRCh38]
Chr10:43615639 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.626-17G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002212542] Chr10:43104935 [GRCh38]
Chr10:43600383 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.822G>T (p.Ala274=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002094579] Chr10:43105148 [GRCh38]
Chr10:43600596 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1707C>T (p.His569=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398246]|Multiple endocrine neoplasia, type 2 [RCV002152207] Chr10:43112911 [GRCh38]
Chr10:43608359 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3270T>C (p.Tyr1090=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002167193] Chr10:43128194 [GRCh38]
Chr10:43623642 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.885G>T (p.Thr295=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002152755] Chr10:43106393 [GRCh38]
Chr10:43601841 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2136+437T>C single nucleotide variant not provided [RCV002211144] Chr10:43115173 [GRCh38]
Chr10:43610621 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.1760-18G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002115313] Chr10:43113538 [GRCh38]
Chr10:43608986 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3188-15T>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002089765] Chr10:43128097 [GRCh38]
Chr10:43623545 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1880-13C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002089902] Chr10:43114467 [GRCh38]
Chr10:43609915 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1986G>A (p.Lys662=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002092803] Chr10:43114586 [GRCh38]
Chr10:43610034 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.618C>T (p.Leu206=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352803]|Multiple endocrine neoplasia, type 2 [RCV002211860] Chr10:43102622 [GRCh38]
Chr10:43598070 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3187+20T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002193539] Chr10:43126742 [GRCh38]
Chr10:43622190 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1523-12T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002149858] Chr10:43112087 [GRCh38]
Chr10:43607535 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1064-14G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002095861] Chr10:43109017 [GRCh38]
Chr10:43604465 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2550C>T (p.Asp850=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454332]|Multiple endocrine neoplasia, type 2 [RCV002106943] Chr10:43119688 [GRCh38]
Chr10:43615136 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1221C>G (p.Thr407=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002196137] Chr10:43109188 [GRCh38]
Chr10:43604636 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1308C>T (p.Ile436=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003161494]|Multiple endocrine neoplasia, type 2 [RCV002111498] Chr10:43111251 [GRCh38]
Chr10:43606699 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.625+19G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002079619] Chr10:43102648 [GRCh38]
Chr10:43598096 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1879+20G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002114305] Chr10:43113695 [GRCh38]
Chr10:43609143 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1759+9G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002134407] Chr10:43112972 [GRCh38]
Chr10:43608420 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+12C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002193210] Chr10:43077343 [GRCh38]
Chr10:43572791 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.868-11G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002113568] Chr10:43106365 [GRCh38]
Chr10:43601813 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3040-11C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002215572] Chr10:43126564 [GRCh38]
Chr10:43622012 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.867+15G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002113035] Chr10:43105208 [GRCh38]
Chr10:43600656 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1239C>T (p.Ser413=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002094933] Chr10:43109206 [GRCh38]
Chr10:43604654 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2790G>C (p.Thr930=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441254]|Multiple endocrine neoplasia, type 2 [RCV002171995] Chr10:43122005 [GRCh38]
Chr10:43617453 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1760-20T>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002195086] Chr10:43113536 [GRCh38]
Chr10:43608984 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2415G>A (p.Glu805=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375585]|Multiple endocrine neoplasia, type 2 [RCV002149859] Chr10:43119553 [GRCh38]
Chr10:43615001 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2193A>G (p.Gly731=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002131385] Chr10:43116640 [GRCh38]
Chr10:43612088 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2608-20C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002212123] Chr10:43120061 [GRCh38]
Chr10:43615509 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2137-11T>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002174537] Chr10:43116573 [GRCh38]
Chr10:43612021 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1410C>G (p.Thr470=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002193860] Chr10:43111353 [GRCh38]
Chr10:43606801 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.381G>C (p.Leu127=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002150224] Chr10:43102385 [GRCh38]
Chr10:43597833 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.447C>T (p.Phe149=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003161539]|Multiple endocrine neoplasia, type 2 [RCV002150272] Chr10:43102451 [GRCh38]
Chr10:43597899 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.810C>A (p.Pro270=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416455]|Hirschsprung disease, susceptibility to, 1 [RCV002486918]|Multiple endocrine neoplasia, type 2 [RCV002171137] Chr10:43105136 [GRCh38]
Chr10:43600584 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3187+14T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002101520] Chr10:43126736 [GRCh38]
Chr10:43622184 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3000C>T (p.Asp1000=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434587]|Multiple endocrine neoplasia, type 2 [RCV002203128] Chr10:43124943 [GRCh38]
Chr10:43620391 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2801+8T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002178924] Chr10:43122024 [GRCh38]
Chr10:43617472 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2787C>T (p.Thr929=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002136968] Chr10:43122002 [GRCh38]
Chr10:43617450 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1760-13C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002117523] Chr10:43113543 [GRCh38]
Chr10:43608991 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2308C>T (p.Arg770Ter) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002197776] Chr10:43118396 [GRCh38]
Chr10:43613844 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2284+15C>T single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002486910]|Multiple endocrine neoplasia, type 2 [RCV002137253] Chr10:43116746 [GRCh38]
Chr10:43612194 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1649-17C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002220312] Chr10:43112836 [GRCh38]
Chr10:43608284 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.810C>T (p.Pro270=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423340]|Multiple endocrine neoplasia, type 2 [RCV002081192]|not provided [RCV003418369] Chr10:43105136 [GRCh38]
Chr10:43600584 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3187+15G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002083182] Chr10:43126737 [GRCh38]
Chr10:43622185 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2565C>T (p.Ala855=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427558]|Multiple endocrine neoplasia, type 2 [RCV002177700] Chr10:43119703 [GRCh38]
Chr10:43615151 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1210C>T (p.Leu404=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352919]|Multiple endocrine neoplasia, type 2 [RCV002141419] Chr10:43109177 [GRCh38]
Chr10:43604625 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2823G>A (p.Leu941=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002198455] Chr10:43123692 [GRCh38]
Chr10:43619140 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2688C>A (p.Ser896=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002204287] Chr10:43120161 [GRCh38]
Chr10:43615609 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1879+17C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002120375] Chr10:43113692 [GRCh38]
Chr10:43609140 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1557T>C (p.Cys519=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002219602] Chr10:43112133 [GRCh38]
Chr10:43607581 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2731-8_2731-6del deletion Multiple endocrine neoplasia, type 2 [RCV002182135] Chr10:43121938..43121940 [GRCh38]
Chr10:43617386..43617388 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1648+20A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002217764] Chr10:43112244 [GRCh38]
Chr10:43607692 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1264-17C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002155394] Chr10:43111190 [GRCh38]
Chr10:43606638 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2802-19G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002122996] Chr10:43123652 [GRCh38]
Chr10:43619100 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.1760-17G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002142652] Chr10:43113539 [GRCh38]
Chr10:43608987 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2025C>T (p.Thr675=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002164784] Chr10:43114625 [GRCh38]
Chr10:43610073 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1515G>A (p.Glu505=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003161410]|Multiple endocrine neoplasia, type 2 [RCV002220329] Chr10:43111458 [GRCh38]
Chr10:43606906 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.625+11A>G single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002498200]|Multiple endocrine neoplasia, type 2 [RCV002197754] Chr10:43102640 [GRCh38]
Chr10:43598088 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2268C>A (p.Ala756=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002216503] Chr10:43116715 [GRCh38]
Chr10:43612163 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2814T>C (p.Gly938=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434570]|Multiple endocrine neoplasia, type 2 [RCV002154034] Chr10:43123683 [GRCh38]
Chr10:43619131 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2325G>A (p.Glu775=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443145]|Multiple endocrine neoplasia, type 2 [RCV002220658] Chr10:43118413 [GRCh38]
Chr10:43613861 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1879+12del deletion Multiple endocrine neoplasia, type 2 [RCV002220679] Chr10:43113686 [GRCh38]
Chr10:43609134 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2285-16C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002218943] Chr10:43118357 [GRCh38]
Chr10:43613805 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2712C>A (p.Ser904=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441284]|Multiple endocrine neoplasia, type 2 [RCV002200219] Chr10:43120185 [GRCh38]
Chr10:43615633 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1064-16G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002179495] Chr10:43109015 [GRCh38]
Chr10:43604463 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3003C>T (p.Ile1001=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434470]|Multiple endocrine neoplasia, type 2 [RCV002102521] Chr10:43124946 [GRCh38]
Chr10:43620394 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2817C>T (p.Val939=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002102566] Chr10:43123686 [GRCh38]
Chr10:43619134 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2940-13C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002160553] Chr10:43124870 [GRCh38]
Chr10:43620318 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1362G>T (p.Val454=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002202691] Chr10:43111305 [GRCh38]
Chr10:43606753 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2640C>T (p.Ile880=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002142288] Chr10:43120113 [GRCh38]
Chr10:43615561 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.921A>C (p.Ser307=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002099235] Chr10:43106429 [GRCh38]
Chr10:43601877 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2731-14C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002120765] Chr10:43121932 [GRCh38]
Chr10:43617380 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.201C>T (p.Arg67=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002160628] Chr10:43100586 [GRCh38]
Chr10:43596034 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.144G>T (p.Thr48=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391273]|Multiple endocrine neoplasia, type 2 [RCV002162502] Chr10:43100529 [GRCh38]
Chr10:43595977 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.625+13C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002204634] Chr10:43102642 [GRCh38]
Chr10:43598090 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.330T>C (p.Ser110=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002177012] Chr10:43100715 [GRCh38]
Chr10:43596163 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.74-11_74-10dup duplication Multiple endocrine neoplasia, type 2 [RCV002161011] Chr10:43100447..43100448 [GRCh38]
Chr10:43595895..43595896 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.60G>A (p.Pro20=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002162957] Chr10:43077318 [GRCh38]
Chr10:43572766 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1759+19G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002175462] Chr10:43112982 [GRCh38]
Chr10:43608430 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1620G>A (p.Arg540=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002158010] Chr10:43112196 [GRCh38]
Chr10:43607644 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2802-8C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002220654] Chr10:43123663 [GRCh38]
Chr10:43619111 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1648+14A>G single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002494187]|Multiple endocrine neoplasia, type 2 [RCV002100345] Chr10:43112238 [GRCh38]
Chr10:43607686 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2731-11C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002137978] Chr10:43121935 [GRCh38]
Chr10:43617383 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2939+16C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002141225] Chr10:43123824 [GRCh38]
Chr10:43619272 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2058C>T (p.Ser686=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002181280] Chr10:43114658 [GRCh38]
Chr10:43610106 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3039+19T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002084287] Chr10:43125001 [GRCh38]
Chr10:43620449 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.60G>C (p.Pro20=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002179932] Chr10:43077318 [GRCh38]
Chr10:43572766 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2802-17C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002200826] Chr10:43123654 [GRCh38]
Chr10:43619102 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3153C>A (p.Ala1051=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002162236] Chr10:43126688 [GRCh38]
Chr10:43622136 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2136+18G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002180080] Chr10:43114754 [GRCh38]
Chr10:43610202 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.951G>T (p.Thr317=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372957]|Multiple endocrine neoplasia, type 2 [RCV002155444] Chr10:43106459 [GRCh38]
Chr10:43601907 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3187+9T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002103208] Chr10:43126731 [GRCh38]
Chr10:43622179 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2040C>G (p.Ala680=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002216581] Chr10:43114640 [GRCh38]
Chr10:43610088 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2136+14C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002202979] Chr10:43114750 [GRCh38]
Chr10:43610198 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2607+19G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002159511] Chr10:43119764 [GRCh38]
Chr10:43615212 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1197G>T (p.Pro399=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003161626]|Multiple endocrine neoplasia, type 2 [RCV002143245] Chr10:43109164 [GRCh38]
Chr10:43604612 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2914A>C (p.Arg972=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002158072] Chr10:43123783 [GRCh38]
Chr10:43619231 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2393-18C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002218935] Chr10:43119513 [GRCh38]
Chr10:43614961 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1264-12G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002220994] Chr10:43111195 [GRCh38]
Chr10:43606643 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3039+18A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002183365] Chr10:43125000 [GRCh38]
Chr10:43620448 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.165C>G (p.Ala55=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002081842] Chr10:43100550 [GRCh38]
Chr10:43595998 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2730+13G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002219070] Chr10:43120216 [GRCh38]
Chr10:43615664 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2801+11del deletion Multiple endocrine neoplasia, type 2 [RCV002156519] Chr10:43122025 [GRCh38]
Chr10:43617473 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3187+12C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002200386] Chr10:43126734 [GRCh38]
Chr10:43622182 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1649-13G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002158634] Chr10:43112840 [GRCh38]
Chr10:43608288 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2034G>A (p.Arg678=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002160448] Chr10:43114634 [GRCh38]
Chr10:43610082 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1410C>T (p.Thr470=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002118556] Chr10:43111353 [GRCh38]
Chr10:43606801 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1035C>T (p.Ser345=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002120492] Chr10:43106543 [GRCh38]
Chr10:43601991 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2137-14C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002181592] Chr10:43116570 [GRCh38]
Chr10:43612018 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2137-17C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002123868] Chr10:43116567 [GRCh38]
Chr10:43612015 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2637C>T (p.Asn879=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454523]|Multiple endocrine neoplasia, type 2 [RCV002123894] Chr10:43120110 [GRCh38]
Chr10:43615558 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1880-8A>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002198882] Chr10:43114472 [GRCh38]
Chr10:43609920 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2802-4G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002219679] Chr10:43123667 [GRCh38]
Chr10:43619115 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.337+17_337+28dup duplication Multiple endocrine neoplasia, type 2 [RCV002182100] Chr10:43100734..43100735 [GRCh38]
Chr10:43596182..43596183 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.619C>T (p.Leu207=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002158653] Chr10:43102623 [GRCh38]
Chr10:43598071 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1064-4G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003161398]|Multiple endocrine neoplasia, type 2 [RCV002202866]|not specified [RCV002246670] Chr10:43109027 [GRCh38]
Chr10:43604475 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1674C>T (p.Cys558=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003365682]|Multiple endocrine neoplasia, type 2 [RCV002218105] Chr10:43112878 [GRCh38]
Chr10:43608326 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.2801+13G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002218106] Chr10:43122029 [GRCh38]
Chr10:43617477 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.337+11C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002180040] Chr10:43100733 [GRCh38]
Chr10:43596181 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2731-20T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002103022] Chr10:43121926 [GRCh38]
Chr10:43617374 [GRCh37]
Chr10:10q11.21
likely benign
NC_000010.10:g.(?_43620311)_(43623717_?)dup duplication Multiple endocrine neoplasia, type 2 [RCV003109789] Chr10:43620311..43623717 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1301G>A (p.Ser434Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003112980] Chr10:43111244 [GRCh38]
Chr10:43606692 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1789G>C (p.Gly597Arg) single nucleotide variant not provided [RCV003123186] Chr10:43113585 [GRCh38]
Chr10:43609033 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1068G>T (p.Leu356=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003121507] Chr10:43109035 [GRCh38]
Chr10:43604483 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1921G>C (p.Ala641Pro) single nucleotide variant Familial medullary thyroid carcinoma [RCV002272791]|not provided [RCV003481269] Chr10:43114521 [GRCh38]
Chr10:43609969 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1573C>A (p.Arg525=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255794] Chr10:43112149 [GRCh38]
Chr10:43607597 [GRCh37]
Chr10:10q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_020975.6(RET):c.1687A>G (p.Lys563Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255795]|Multiple endocrine neoplasia, type 2 [RCV003101402] Chr10:43112891 [GRCh38]
Chr10:43608339 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.909G>A (p.Val303=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256979] Chr10:43106417 [GRCh38]
Chr10:43601865 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3036G>A (p.Arg1012=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256978] Chr10:43124979 [GRCh38]
Chr10:43620427 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1069G>A (p.Val357Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296596] Chr10:43109036 [GRCh38]
Chr10:43604484 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2996C>G (p.Ala999Gly) single nucleotide variant Multiple endocrine neoplasia, type 2a [RCV003230330]|RET-related condition [RCV003396960] Chr10:43124939 [GRCh38]
Chr10:43620387 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2994T>C (p.Phe998=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435532]|Multiple endocrine neoplasia, type 2 [RCV003533272] Chr10:43124937 [GRCh38]
Chr10:43620385 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.282C>T (p.Leu94=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435098] Chr10:43100667 [GRCh38]
Chr10:43596115 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1140C>A (p.Asp380Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452091] Chr10:43109107 [GRCh38]
Chr10:43604555 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2136+2T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416555]|Hirschsprung disease, susceptibility to, 1 [RCV002289007]|Multiple endocrine neoplasia, type 2 [RCV003645908] Chr10:43114738 [GRCh38]
Chr10:43610186 [GRCh37]
Chr10:10q11.21
likely pathogenic|uncertain significance
NM_020975.6(RET):c.626-49C>T single nucleotide variant not specified [RCV002268741] Chr10:43104903 [GRCh38]
Chr10:43600351 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2137-744A>G single nucleotide variant not provided [RCV002262281] Chr10:43115840 [GRCh38]
Chr10:43611288 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.337+24A>C single nucleotide variant not specified [RCV002268740] Chr10:43100746 [GRCh38]
Chr10:43596194 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1438G>T (p.Glu480Ter) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002289465] Chr10:43111381 [GRCh38]
Chr10:43606829 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.1010_1017del (p.Glu337fs) deletion Hereditary cancer-predisposing syndrome [RCV002435695] Chr10:43106516..43106523 [GRCh38]
Chr10:43601964..43601971 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.2833G>T (p.Val945Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435149] Chr10:43123702 [GRCh38]
Chr10:43619150 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.158T>C (p.Val53Ala) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002288352] Chr10:43100543 [GRCh38]
Chr10:43595991 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2136+272G>A single nucleotide variant not provided [RCV002262280] Chr10:43115008 [GRCh38]
Chr10:43610456 [GRCh37]
Chr10:10q11.21
benign|likely benign
NM_020975.6(RET):c.2940-45C>T single nucleotide variant not specified [RCV002268743] Chr10:43124838 [GRCh38]
Chr10:43620286 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.625+143C>T single nucleotide variant not provided [RCV002292772] Chr10:43102772 [GRCh38]
Chr10:43598220 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.1149C>T (p.Gly383=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452300]|Multiple endocrine neoplasia, type 2 [RCV003645912] Chr10:43109116 [GRCh38]
Chr10:43604564 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1376A>T (p.Glu459Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383818] Chr10:43111319 [GRCh38]
Chr10:43606767 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1897_1899del (p.Leu633del) deletion Multiple endocrine neoplasia, type 2a [RCV002289481] Chr10:43114496..43114498 [GRCh38]
Chr10:43609944..43609946 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.663G>A (p.Leu221=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366796]|Multiple endocrine neoplasia, type 2 [RCV003645916] Chr10:43104989 [GRCh38]
Chr10:43600437 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.541C>G (p.Pro181Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349477] Chr10:43102545 [GRCh38]
Chr10:43597993 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.203T>A (p.Leu68Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419914] Chr10:43100588 [GRCh38]
Chr10:43596036 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.507G>A (p.Glu169=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351459]|Multiple endocrine neoplasia, type 2 [RCV003096605] Chr10:43102511 [GRCh38]
Chr10:43597959 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1542C>T (p.Gly514=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297679] Chr10:43112118 [GRCh38]
Chr10:43607566 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3205T>C (p.Trp1069Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297685] Chr10:43128129 [GRCh38]
Chr10:43623577 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1279G>A (p.Val427Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385198] Chr10:43111222 [GRCh38]
Chr10:43606670 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.813C>A (p.Thr271=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421355] Chr10:43105139 [GRCh38]
Chr10:43600587 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3015G>T (p.Leu1005=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435819]|Multiple endocrine neoplasia, type 2 [RCV003102977] Chr10:43124958 [GRCh38]
Chr10:43620406 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2692G>A (p.Asp898Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453201] Chr10:43120165 [GRCh38]
Chr10:43615613 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3031A>T (p.Lys1011Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438113] Chr10:43124974 [GRCh38]
Chr10:43620422 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.3033G>C (p.Lys1011Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438132] Chr10:43124976 [GRCh38]
Chr10:43620424 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3035G>A (p.Arg1012Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438148] Chr10:43124978 [GRCh38]
Chr10:43620426 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2049C>G (p.Phe683Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420044] Chr10:43114649 [GRCh38]
Chr10:43610097 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2898C>A (p.Thr966=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437993]|Multiple endocrine neoplasia, type 2 [RCV003108114] Chr10:43123767 [GRCh38]
Chr10:43619215 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.741C>A (p.Ala247=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384963] Chr10:43105067 [GRCh38]
Chr10:43600515 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.626-41G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002496208]|not specified [RCV002268742] Chr10:43104911 [GRCh38]
Chr10:43600359 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3026T>G (p.Met1009Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435939]|not provided [RCV003318726] Chr10:43124969 [GRCh38]
Chr10:43620417 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.814T>A (p.Phe272Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421397] Chr10:43105140 [GRCh38]
Chr10:43600588 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.676C>A (p.Arg226Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369300] Chr10:43105002 [GRCh38]
Chr10:43600450 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.708G>A (p.Lys236=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367275] Chr10:43105034 [GRCh38]
Chr10:43600482 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.715C>T (p.Leu239=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367574] Chr10:43105041 [GRCh38]
Chr10:43600489 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2628A>G (p.Ala876=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437252]|Multiple endocrine neoplasia, type 2 [RCV003533262] Chr10:43120101 [GRCh38]
Chr10:43615549 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1153G>A (p.Gly385Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351052] Chr10:43109120 [GRCh38]
Chr10:43604568 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2617C>T (p.Arg873Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003274351]|Hirschsprung disease, susceptibility to, 1 [RCV003150912] Chr10:43120090 [GRCh38]
Chr10:43615538 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.2026T>A (p.Phe676Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419690] Chr10:43114626 [GRCh38]
Chr10:43610074 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2682C>T (p.Gly894=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437328]|Multiple endocrine neoplasia, type 2 [RCV003645932] Chr10:43120155 [GRCh38]
Chr10:43615603 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2688C>T (p.Ser896=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437345]|Multiple endocrine neoplasia, type 2 [RCV003111545] Chr10:43120161 [GRCh38]
Chr10:43615609 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2694T>C (p.Asp898=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437367] Chr10:43120167 [GRCh38]
Chr10:43615615 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2025C>G (p.Thr675=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419663] Chr10:43114625 [GRCh38]
Chr10:43610073 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.626-5C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368628] Chr10:43104947 [GRCh38]
Chr10:43600395 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2881T>C (p.Phe961Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437809] Chr10:43123750 [GRCh38]
Chr10:43619198 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.675G>A (p.Thr225=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369267]|Multiple endocrine neoplasia, type 2 [RCV003098367] Chr10:43105001 [GRCh38]
Chr10:43600449 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1221C>A (p.Thr407=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369105] Chr10:43109188 [GRCh38]
Chr10:43604636 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1229T>A (p.Leu410His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367214]|Multiple endocrine neoplasia, type 2 [RCV003098341] Chr10:43109196 [GRCh38]
Chr10:43604644 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.54G>A (p.Leu18=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351648] Chr10:43077312 [GRCh38]
Chr10:43572760 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2549A>T (p.Asp850Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434946]|Multiple endocrine neoplasia, type 2 [RCV003101955] Chr10:43119687 [GRCh38]
Chr10:43615135 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1314C>G (p.Val438=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385523]|Multiple endocrine neoplasia, type 2 [RCV003645922] Chr10:43111257 [GRCh38]
Chr10:43606705 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2734C>A (p.Arg912=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437504] Chr10:43121949 [GRCh38]
Chr10:43617397 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2835G>C (p.Val945=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435167] Chr10:43123704 [GRCh38]
Chr10:43619152 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.195C>T (p.Ser65=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421703] Chr10:43100580 [GRCh38]
Chr10:43596028 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.575C>G (p.Pro192Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349960] Chr10:43102579 [GRCh38]
Chr10:43598027 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2736G>T (p.Arg912=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437537]|Multiple endocrine neoplasia, type 2 [RCV003645933] Chr10:43121951 [GRCh38]
Chr10:43617399 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.355C>T (p.Leu119Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454924] Chr10:43102359 [GRCh38]
Chr10:43597807 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3297G>A (p.Trp1099Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454655] Chr10:43128221 [GRCh38]
Chr10:43623669 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3297G>T (p.Trp1099Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454657] Chr10:43128221 [GRCh38]
Chr10:43623669 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.626-3C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366730] Chr10:43104949 [GRCh38]
Chr10:43600397 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.804G>T (p.Ser268=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419327] Chr10:43105130 [GRCh38]
Chr10:43600578 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1510G>A (p.Val504Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297654] Chr10:43111453 [GRCh38]
Chr10:43606901 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3105G>A (p.Glu1035=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297660] Chr10:43126640 [GRCh38]
Chr10:43622088 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1956G>C (p.Leu652=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297669] Chr10:43114556 [GRCh38]
Chr10:43610004 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1461C>T (p.Ala487=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297670]|Multiple endocrine neoplasia, type 2 [RCV003777264] Chr10:43111404 [GRCh38]
Chr10:43606852 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.70A>G (p.Lys24Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367339] Chr10:43077328 [GRCh38]
Chr10:43572776 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.975C>T (p.Ala325=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387115] Chr10:43106483 [GRCh38]
Chr10:43601931 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.122A>T (p.Tyr41Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369155] Chr10:43100507 [GRCh38]
Chr10:43595955 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1240A>G (p.Arg414Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283601] Chr10:43109207 [GRCh38]
Chr10:43604655 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2366A>G (p.Lys789Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283602] Chr10:43118454 [GRCh38]
Chr10:43613902 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.802T>G (p.Ser268Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283603] Chr10:43105128 [GRCh38]
Chr10:43600576 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.792C>T (p.Asp264=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283613] Chr10:43105118 [GRCh38]
Chr10:43600566 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1681A>G (p.Ser561Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283619]|Multiple endocrine neoplasia, type 2 [RCV003645954] Chr10:43112885 [GRCh38]
Chr10:43608333 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.171G>A (p.Arg57=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414771] Chr10:43100556 [GRCh38]
Chr10:43596004 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1864C>T (p.Pro622Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414974] Chr10:43113660 [GRCh38]
Chr10:43609108 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.924G>A (p.Gly308=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002750066] Chr10:43106432 [GRCh38]
Chr10:43601880 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1014C>T (p.Thr338=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002331951]|Multiple endocrine neoplasia, type 2 [RCV003533174] Chr10:43106522 [GRCh38]
Chr10:43601970 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1885C>G (p.Leu629Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415381] Chr10:43114485 [GRCh38]
Chr10:43609933 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.498C>T (p.Cys166=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342934] Chr10:43102502 [GRCh38]
Chr10:43597950 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.49C>A (p.Leu17Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002343011] Chr10:43077307 [GRCh38]
Chr10:43572755 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.-1G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417147] Chr10:43077258 [GRCh38]
Chr10:43572706 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.626-21C>T single nucleotide variant not specified [RCV002466053] Chr10:43104931 [GRCh38]
Chr10:43600379 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1522+1G>A single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV002472204] Chr10:43111466 [GRCh38]
Chr10:43606914 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.1845G>A (p.Glu615=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412920]|Multiple endocrine neoplasia, type 2 [RCV003533239] Chr10:43113641 [GRCh38]
Chr10:43609089 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1759+1G>A single nucleotide variant RET-related condition [RCV003395704]|RET-related disease [RCV003458911] Chr10:43112964 [GRCh38]
Chr10:43608412 [GRCh37]
Chr10:10q11.21
pathogenic|likely pathogenic
NM_020975.6(RET):c.1855T>G (p.Phe619Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413085] Chr10:43113651 [GRCh38]
Chr10:43609099 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.564C>T (p.Phe188=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002345176]|Multiple endocrine neoplasia, type 2 [RCV003645914] Chr10:43102568 [GRCh38]
Chr10:43598016 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2119G>C (p.Asp707His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417584]|Multiple endocrine neoplasia, type 2 [RCV003098632] Chr10:43114719 [GRCh38]
Chr10:43610167 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3120G>A (p.Leu1040=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320495] Chr10:43126655 [GRCh38]
Chr10:43622103 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.675G>T (p.Thr225=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377976] Chr10:43105001 [GRCh38]
Chr10:43600449 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1339G>C (p.Ala447Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387657] Chr10:43111282 [GRCh38]
Chr10:43606730 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1099A>G (p.Asn367Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455429] Chr10:43109066 [GRCh38]
Chr10:43604514 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3137C>T (p.Ala1046Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320657]|Multiple endocrine neoplasia, type 2 [RCV003099227] Chr10:43126672 [GRCh38]
Chr10:43622120 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1080G>A (p.Arg360=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417770] Chr10:43109047 [GRCh38]
Chr10:43604495 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2067T>G (p.Ser689=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422060] Chr10:43114667 [GRCh38]
Chr10:43610115 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1522+3G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392449] Chr10:43111468 [GRCh38]
Chr10:43606916 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1547C>T (p.Pro516Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403283] Chr10:43112123 [GRCh38]
Chr10:43607571 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.711C>T (p.Tyr237=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378321]|Multiple endocrine neoplasia, type 2 [RCV003103363] Chr10:43105037 [GRCh38]
Chr10:43600485 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2759T>C (p.Ile920Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439457] Chr10:43121974 [GRCh38]
Chr10:43617422 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2629G>T (p.Ala877Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002426456]|Multiple endocrine neoplasia, type 2 [RCV003102045] Chr10:43120102 [GRCh38]
Chr10:43615550 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3204C>A (p.Asn1068Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443367]|Multiple endocrine neoplasia, type 2 [RCV003775074] Chr10:43128128 [GRCh38]
Chr10:43623576 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1401G>A (p.Val467=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389294] Chr10:43111344 [GRCh38]
Chr10:43606792 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.615G>C (p.Arg205Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353650]|Multiple endocrine neoplasia, type 2 [RCV003103272] Chr10:43102619 [GRCh38]
Chr10:43598067 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.39G>A (p.Leu13=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357800]|Multiple endocrine neoplasia, type 2 [RCV003775787] Chr10:43077297 [GRCh38]
Chr10:43572745 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2553C>A (p.Leu851=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433316] Chr10:43119691 [GRCh38]
Chr10:43615139 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1656C>T (p.Thr552=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403737] Chr10:43112860 [GRCh38]
Chr10:43608308 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3274A>C (p.Asn1092His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325020] Chr10:43128198 [GRCh38]
Chr10:43623646 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1936T>G (p.Phe646Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002304500] Chr10:43114536 [GRCh38]
Chr10:43609984 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.818C>A (p.Pro273His) single nucleotide variant Ovarian cancer [RCV003154779] Chr10:43105144 [GRCh38]
Chr10:43600592 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.1980C>T (p.Tyr660=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423674] Chr10:43114580 [GRCh38]
Chr10:43610028 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2486G>A (p.Ser829Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430859]|Multiple endocrine neoplasia, type 2 [RCV003101873] Chr10:43119624 [GRCh38]
Chr10:43615072 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1223A>G (p.Tyr408Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361840] Chr10:43109190 [GRCh38]
Chr10:43604638 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1488C>G (p.Ala496=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389629] Chr10:43111431 [GRCh38]
Chr10:43606879 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.822G>C (p.Ala274=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428014]|Multiple endocrine neoplasia, type 2 [RCV003099875] Chr10:43105148 [GRCh38]
Chr10:43600596 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1495C>T (p.Gln499Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389791]|Multiple endocrine neoplasia, type 2 [RCV003095239] Chr10:43111438 [GRCh38]
Chr10:43606886 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.935G>A (p.Arg312Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371708] Chr10:43106443 [GRCh38]
Chr10:43601891 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2092G>A (p.Asp698Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424064]|Multiple endocrine neoplasia, type 2 [RCV003101050] Chr10:43114692 [GRCh38]
Chr10:43610140 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1100A>G (p.Asn367Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431112] Chr10:43109067 [GRCh38]
Chr10:43604515 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1782C>G (p.His594Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002304782] Chr10:43113578 [GRCh38]
Chr10:43609026 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2367A>G (p.Lys789=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457732] Chr10:43118455 [GRCh38]
Chr10:43613903 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3100_3101del (p.Ser1034fs) microsatellite Hereditary cancer-predisposing syndrome [RCV002325980] Chr10:43126632..43126633 [GRCh38]
Chr10:43622080..43622081 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.572T>C (p.Leu191Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347728]|Multiple endocrine neoplasia, type 2 [RCV003096856] Chr10:43102576 [GRCh38]
Chr10:43598024 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2125T>C (p.Phe709Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002303553] Chr10:43114725 [GRCh38]
Chr10:43610173 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2999A>G (p.Asp1000Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002304947] Chr10:43124942 [GRCh38]
Chr10:43620390 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2790G>T (p.Thr930=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441421] Chr10:43122005 [GRCh38]
Chr10:43617453 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1788T>G (p.Pro596=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407743] Chr10:43113584 [GRCh38]
Chr10:43609032 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.322A>G (p.Lys108Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445537] Chr10:43100707 [GRCh38]
Chr10:43596155 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3231C>A (p.Leu1077=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445543]|Multiple endocrine neoplasia, type 2 [RCV003102331] Chr10:43128155 [GRCh38]
Chr10:43623603 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3308C>T (p.Pro1103Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326265] Chr10:43128232 [GRCh38]
Chr10:43623680 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1888T>A (p.Cys630Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407971] Chr10:43114488 [GRCh38]
Chr10:43609936 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.1995C>T (p.His665=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416979] Chr10:43114595 [GRCh38]
Chr10:43610043 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1666T>G (p.Ser556Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002305176] Chr10:43112870 [GRCh38]
Chr10:43608318 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3207G>T (p.Trp1069Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323022] Chr10:43128131 [GRCh38]
Chr10:43623579 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.332T>G (p.Val111Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326483] Chr10:43100717 [GRCh38]
Chr10:43596165 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1899_1900delinsAA (p.Cys634Ser) indel Hereditary cancer-predisposing syndrome [RCV002408164] Chr10:43114499..43114500 [GRCh38]
Chr10:43609947..43609948 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1899G>A (p.Leu633=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408178]|Multiple endocrine neoplasia, type 2 [RCV003645926] Chr10:43114499 [GRCh38]
Chr10:43609947 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.902C>A (p.Ala301Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002305287] Chr10:43106410 [GRCh38]
Chr10:43601858 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.328A>C (p.Ser110Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445810] Chr10:43100713 [GRCh38]
Chr10:43596161 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1295C>T (p.Ala432Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380630]|Multiple endocrine neoplasia, type 2a [RCV003444270] Chr10:43111238 [GRCh38]
Chr10:43606686 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.187G>T (p.Val63Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415289] Chr10:43100572 [GRCh38]
Chr10:43596020 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2005A>T (p.Ile669Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417244] Chr10:43114605 [GRCh38]
Chr10:43610053 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2269G>A (p.Val757Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443847] Chr10:43116716 [GRCh38]
Chr10:43612164 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1973A>T (p.His658Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423531] Chr10:43114573 [GRCh38]
Chr10:43610021 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1155A>G (p.Gly385=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363968] Chr10:43109122 [GRCh38]
Chr10:43604570 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1580A>T (p.Glu527Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405798]|Multiple endocrine neoplasia, type 2 [RCV003096967] Chr10:43112156 [GRCh38]
Chr10:43607604 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.72A>G (p.Lys24=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382751] Chr10:43077330 [GRCh38]
Chr10:43572778 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3274A>T (p.Asn1092Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445721] Chr10:43128198 [GRCh38]
Chr10:43623646 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1470G>T (p.Gln490His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396930] Chr10:43111413 [GRCh38]
Chr10:43606861 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2425T>C (p.Tyr809His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450426] Chr10:43119563 [GRCh38]
Chr10:43615011 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2940-5A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440159] Chr10:43124878 [GRCh38]
Chr10:43620326 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.256A>T (p.Ile86Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425993] Chr10:43100641 [GRCh38]
Chr10:43596089 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2220G>A (p.Lys740=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428076] Chr10:43116667 [GRCh38]
Chr10:43612115 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.889C>T (p.Arg297Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376027]|Hirschsprung disease, susceptibility to, 1 [RCV003464498]|Multiple endocrine neoplasia, type 2 [RCV003100050] Chr10:43106397 [GRCh38]
Chr10:43601845 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2228C>T (p.Ala743Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428168] Chr10:43116675 [GRCh38]
Chr10:43612123 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2300G>A (p.Ser767Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446328] Chr10:43118388 [GRCh38]
Chr10:43613836 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.24C>T (p.Ala8=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431079] Chr10:43077282 [GRCh38]
Chr10:43572730 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.13A>G (p.Thr5Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389230]|Multiple endocrine neoplasia, type 2 [RCV003095091] Chr10:43077271 [GRCh38]
Chr10:43572719 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.597C>A (p.Asn199Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356118] Chr10:43102601 [GRCh38]
Chr10:43598049 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3040-3del deletion Hereditary cancer-predisposing syndrome [RCV002444004] Chr10:43126571 [GRCh38]
Chr10:43622019 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3043T>C (p.Tyr1015His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444026]|Multiple endocrine neoplasia, type 2 [RCV003775449] Chr10:43126578 [GRCh38]
Chr10:43622026 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3043T>G (p.Tyr1015Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444027]|Multiple endocrine neoplasia, type 2 [RCV003102998] Chr10:43126578 [GRCh38]
Chr10:43622026 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3283G>A (p.Val1095Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445784]|Multiple endocrine neoplasia, type 2 [RCV003645910] Chr10:43128207 [GRCh38]
Chr10:43623655 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.166C>T (p.Leu56=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002395119] Chr10:43100551 [GRCh38]
Chr10:43595999 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1569G>T (p.Lys523Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002296664]|RET-related condition [RCV003395450] Chr10:43112145 [GRCh38]
Chr10:43607593 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.639C>G (p.Pro213=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002354113] Chr10:43104965 [GRCh38]
Chr10:43600413 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.346T>C (p.Phe116Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457283]|Multiple endocrine neoplasia, type 2 [RCV003645911] Chr10:43102350 [GRCh38]
Chr10:43597798 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1402A>T (p.Asn468Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389310] Chr10:43111345 [GRCh38]
Chr10:43606793 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1965C>T (p.Phe655=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423383] Chr10:43114565 [GRCh38]
Chr10:43610013 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.861G>A (p.Arg287=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371150] Chr10:43105187 [GRCh38]
Chr10:43600635 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1214C>T (p.Pro405Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358175] Chr10:43109181 [GRCh38]
Chr10:43604629 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.41_43delinsGGTTGCTGC (p.Leu13_Leu14insArgLeu) indel Hereditary cancer-predisposing syndrome [RCV002323341] Chr10:43077299..43077301 [GRCh38]
Chr10:43572747..43572749 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1498C>A (p.Leu500Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389836] Chr10:43111441 [GRCh38]
Chr10:43606889 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1795C>T (p.Pro599Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404243] Chr10:43113591 [GRCh38]
Chr10:43609039 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.884C>A (p.Thr295Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373818] Chr10:43106392 [GRCh38]
Chr10:43601840 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.851A>T (p.Glu284Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447764] Chr10:43105177 [GRCh38]
Chr10:43600625 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.768G>T (p.Val256=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400525]|Multiple endocrine neoplasia, type 2 [RCV003103430] Chr10:43105094 [GRCh38]
Chr10:43600542 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.769C>A (p.Pro257Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400552]|Multiple endocrine neoplasia, type 2 [RCV003103433] Chr10:43105095 [GRCh38]
Chr10:43600543 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1349G>A (p.Ser450Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387898]|Multiple endocrine neoplasia, type 2 [RCV003774280] Chr10:43111292 [GRCh38]
Chr10:43606740 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1763G>T (p.Gly588Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407624]|Multiple endocrine neoplasia, type 2 [RCV003645925] Chr10:43113559 [GRCh38]
Chr10:43609007 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.852G>A (p.Glu284=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447804]|Multiple endocrine neoplasia, type 2 [RCV003645920] Chr10:43105178 [GRCh38]
Chr10:43600626 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1670C>T (p.Thr557Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405846] Chr10:43112874 [GRCh38]
Chr10:43608322 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1317G>C (p.Gln439His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002298037] Chr10:43111260 [GRCh38]
Chr10:43606708 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2328C>T (p.Phe776=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457614]|Multiple endocrine neoplasia, type 2 [RCV003645930] Chr10:43118416 [GRCh38]
Chr10:43613864 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.154T>C (p.Tyr52His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403357] Chr10:43100539 [GRCh38]
Chr10:43595987 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.652_653dup (p.Asp219fs) duplication Hereditary cancer-predisposing syndrome [RCV002364235] Chr10:43104975..43104976 [GRCh38]
Chr10:43600423..43600424 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1101C>T (p.Asn367=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433039] Chr10:43109068 [GRCh38]
Chr10:43604516 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2930G>C (p.Ser977Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440063] Chr10:43123799 [GRCh38]
Chr10:43619247 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2930G>T (p.Ser977Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440065] Chr10:43123799 [GRCh38]
Chr10:43619247 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2569C>G (p.Gln857Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425982] Chr10:43119707 [GRCh38]
Chr10:43615155 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2301T>C (p.Ser767=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446342] Chr10:43118389 [GRCh38]
Chr10:43613837 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.993G>A (p.Val331=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382893]|Multiple endocrine neoplasia, type 2 [RCV003094902] Chr10:43106501 [GRCh38]
Chr10:43601949 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1385C>G (p.Ser462Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396510] Chr10:43111328 [GRCh38]
Chr10:43606776 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1268G>T (p.Gly423Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449768] Chr10:43111211 [GRCh38]
Chr10:43606659 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.359C>T (p.Thr120Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339859] Chr10:43102363 [GRCh38]
Chr10:43597811 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2799T>C (p.Asp933=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441490] Chr10:43122014 [GRCh38]
Chr10:43617462 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.27G>A (p.Ala9=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441568] Chr10:43077285 [GRCh38]
Chr10:43572733 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2439G>A (p.Arg813=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459983]|Multiple endocrine neoplasia, type 2 [RCV003101820] Chr10:43119577 [GRCh38]
Chr10:43615025 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1639G>T (p.Asp547Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403515] Chr10:43112215 [GRCh38]
Chr10:43607663 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3295T>C (p.Trp1099Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326179] Chr10:43128219 [GRCh38]
Chr10:43623667 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.732C>T (p.Thr244=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380153] Chr10:43105058 [GRCh38]
Chr10:43600506 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2721G>A (p.Lys907=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431298]|Multiple endocrine neoplasia, type 2 [RCV003102147] Chr10:43120194 [GRCh38]
Chr10:43615642 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2515G>A (p.Asp839Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432989]|Hirschsprung disease, susceptibility to, 1 [RCV003464555]|Multiple endocrine neoplasia, type 2 [RCV003111542] Chr10:43119653 [GRCh38]
Chr10:43615101 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1408A>G (p.Thr470Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389427]|Multiple endocrine neoplasia, type 2 [RCV003774311] Chr10:43111351 [GRCh38]
Chr10:43606799 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.335G>T (p.Arg112Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321070]|Multiple endocrine neoplasia, type 2 [RCV003775599] Chr10:43100720 [GRCh38]
Chr10:43596168 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.556C>T (p.His186Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352044] Chr10:43102560 [GRCh38]
Chr10:43598008 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2055C>T (p.Val685=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421873] Chr10:43114655 [GRCh38]
Chr10:43610103 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.67G>C (p.Gly23Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369484] Chr10:43077325 [GRCh38]
Chr10:43572773 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2400C>T (p.Leu800=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459656] Chr10:43119538 [GRCh38]
Chr10:43614986 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3172G>C (p.Glu1058Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322655] Chr10:43126707 [GRCh38]
Chr10:43622155 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.698A>T (p.Gln233Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378190]|Multiple endocrine neoplasia, type 2 [RCV003645918] Chr10:43105024 [GRCh38]
Chr10:43600472 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.-7_-4del deletion Hereditary cancer-predisposing syndrome [RCV002378242] Chr10:43077252..43077255 [GRCh38]
Chr10:43572700..43572703 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1382C>T (p.Thr461Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381199] Chr10:43111325 [GRCh38]
Chr10:43606773 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1610C>T (p.Pro537Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400899]|Multiple endocrine neoplasia, type 2 [RCV003100749] Chr10:43112186 [GRCh38]
Chr10:43607634 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.399T>C (p.Arg133=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321157] Chr10:43102403 [GRCh38]
Chr10:43597851 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.-3G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321170] Chr10:43077256 [GRCh38]
Chr10:43572704 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3226C>A (p.Pro1076Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445514] Chr10:43128150 [GRCh38]
Chr10:43623598 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1587G>A (p.Glu529=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398351] Chr10:43112163 [GRCh38]
Chr10:43607611 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2467G>T (p.Gly823Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455519] Chr10:43119605 [GRCh38]
Chr10:43615053 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1503T>C (p.Leu501=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389971] Chr10:43111446 [GRCh38]
Chr10:43606894 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3184_3186inv (p.Tyr1062Ile) inversion Hereditary cancer-predisposing syndrome [RCV002322771] Chr10:43126719..43126721 [GRCh38]
Chr10:43622167..43622169 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2335C>G (p.Leu779Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448226] Chr10:43118423 [GRCh38]
Chr10:43613871 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1983C>G (p.His661Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423713] Chr10:43114583 [GRCh38]
Chr10:43610031 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2952G>A (p.Met984Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441887]|Multiple endocrine neoplasia, type 2 [RCV003533270] Chr10:43124895 [GRCh38]
Chr10:43620343 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2953C>T (p.Leu985=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441898] Chr10:43124896 [GRCh38]
Chr10:43620344 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3335T>C (p.Phe1112Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326529] Chr10:43128259 [GRCh38]
Chr10:43623707 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2396C>T (p.Pro799Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450208]|Multiple endocrine neoplasia, type 2 [RCV003098847] Chr10:43119534 [GRCh38]
Chr10:43614982 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.18C>G (p.Ser6=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408222] Chr10:43077276 [GRCh38]
Chr10:43572724 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.241C>T (p.His81Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459781] Chr10:43100626 [GRCh38]
Chr10:43596074 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.670A>T (p.Ser224Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002299452] Chr10:43104996 [GRCh38]
Chr10:43600444 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3189C>T (p.Gly1063=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322815] Chr10:43128113 [GRCh38]
Chr10:43623561 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1340C>T (p.Ala447Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387702] Chr10:43111283 [GRCh38]
Chr10:43606731 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2961C>T (p.Cys987=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441988] Chr10:43124904 [GRCh38]
Chr10:43620352 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3342T>C (p.Ser1114=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326613] Chr10:43128266 [GRCh38]
Chr10:43623714 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.697C>G (p.Gln233Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002299474] Chr10:43105023 [GRCh38]
Chr10:43600471 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1759C>A (p.Arg587=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401635] Chr10:43112963 [GRCh38]
Chr10:43608411 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1972C>T (p.His658Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002295664] Chr10:43114572 [GRCh38]
Chr10:43610020 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2532G>C (p.Arg844=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433176] Chr10:43119670 [GRCh38]
Chr10:43615118 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1885C>T (p.Leu629=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407924] Chr10:43114485 [GRCh38]
Chr10:43609933 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.-5G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358002] Chr10:43077254 [GRCh38]
Chr10:43572702 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.408G>A (p.Glu136=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323213]|Multiple endocrine neoplasia, type 2 [RCV003775812] Chr10:43102412 [GRCh38]
Chr10:43597860 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.846G>T (p.Val282=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447596] Chr10:43105172 [GRCh38]
Chr10:43600620 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1296_1297delinsGC (p.Phe433Leu) indel Hereditary cancer-predisposing syndrome [RCV002380639] Chr10:43111239..43111240 [GRCh38]
Chr10:43606687..43606688 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.15G>T (p.Thr5=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398678] Chr10:43077273 [GRCh38]
Chr10:43572721 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.190C>T (p.Pro64Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408435] Chr10:43100575 [GRCh38]
Chr10:43596023 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2077C>T (p.Arg693Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422226]|Hirschsprung disease, susceptibility to, 1 [RCV003464546]|Multiple endocrine neoplasia, type 2 [RCV003098601] Chr10:43114677 [GRCh38]
Chr10:43610125 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2437C>A (p.Arg813=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459950]|Multiple endocrine neoplasia, type 2 [RCV003775248] Chr10:43119575 [GRCh38]
Chr10:43615023 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.243T>A (p.His81Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002460023] Chr10:43100628 [GRCh38]
Chr10:43596076 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1762G>A (p.Gly588Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401684] Chr10:43113558 [GRCh38]
Chr10:43609006 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2656C>G (p.Arg886Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428704]|Multiple endocrine neoplasia, type 2 [RCV003102079] Chr10:43120129 [GRCh38]
Chr10:43615577 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1016C>G (p.Ser339Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335623] Chr10:43106524 [GRCh38]
Chr10:43601972 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3240T>A (p.Ala1080=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324793] Chr10:43128164 [GRCh38]
Chr10:43623612 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1297T>C (p.Phe433Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380691] Chr10:43111240 [GRCh38]
Chr10:43606688 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2664G>T (p.Met888Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428766] Chr10:43120137 [GRCh38]
Chr10:43615585 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1644C>G (p.Gly548=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403595]|Multiple endocrine neoplasia, type 2 [RCV003097049] Chr10:43112220 [GRCh38]
Chr10:43607668 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2393-4C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430650] Chr10:43119527 [GRCh38]
Chr10:43614975 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1592G>A (p.Cys531Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398461]|Hirschsprung disease, susceptibility to, 1 [RCV003464527] Chr10:43112168 [GRCh38]
Chr10:43607616 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.18C>A (p.Ser6=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408217] Chr10:43077276 [GRCh38]
Chr10:43572724 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1905C>G (p.Arg635=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408326] Chr10:43114505 [GRCh38]
Chr10:43609953 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.718G>A (p.Val240Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370780] Chr10:43105044 [GRCh38]
Chr10:43600492 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1398T>G (p.Phe466Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389163] Chr10:43111341 [GRCh38]
Chr10:43606789 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3051C>A (p.Asp1017Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444118]|Multiple endocrine neoplasia, type 2 [RCV003775451] Chr10:43126586 [GRCh38]
Chr10:43622034 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3054T>C (p.Leu1018=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444141] Chr10:43126589 [GRCh38]
Chr10:43622037 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1605C>T (p.Gly535=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398778] Chr10:43112181 [GRCh38]
Chr10:43607629 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.591C>T (p.Cys197=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355798] Chr10:43102595 [GRCh38]
Chr10:43598043 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2256C>T (p.Tyr752=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443640] Chr10:43116703 [GRCh38]
Chr10:43612151 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1185G>A (p.Val395=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337964] Chr10:43109152 [GRCh38]
Chr10:43604600 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.592C>G (p.Pro198Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355848] Chr10:43102596 [GRCh38]
Chr10:43598044 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1615G>A (p.Gly539Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400967]|Multiple endocrine neoplasia, type 2 [RCV003097008] Chr10:43112191 [GRCh38]
Chr10:43607639 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.855C>A (p.Phe285Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414479] Chr10:43105181 [GRCh38]
Chr10:43600629 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.532dup (p.Glu178fs) duplication Hereditary cancer-predisposing syndrome [RCV002346831] Chr10:43102533..43102534 [GRCh38]
Chr10:43597981..43597982 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.2916G>A (p.Arg972=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439881] Chr10:43123785 [GRCh38]
Chr10:43619233 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2922C>G (p.Asp974Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439975] Chr10:43123791 [GRCh38]
Chr10:43619239 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.847G>C (p.Val283Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447633]|Hirschsprung disease, susceptibility to, 1 [RCV003464495] Chr10:43105173 [GRCh38]
Chr10:43600621 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1968C>T (p.Cys656=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423428]|Multiple endocrine neoplasia, type 2 [RCV003645927]|not provided [RCV002481085] Chr10:43114568 [GRCh38]
Chr10:43610016 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.724G>C (p.Val242Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371108]|Multiple endocrine neoplasia, type 2 [RCV003533198] Chr10:43105050 [GRCh38]
Chr10:43600498 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.225G>T (p.Thr75=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443715] Chr10:43100610 [GRCh38]
Chr10:43596058 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.642C>T (p.Phe214=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361720] Chr10:43104968 [GRCh38]
Chr10:43600416 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1383C>T (p.Thr461=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381215]|Multiple endocrine neoplasia, type 2 [RCV003095066] Chr10:43111326 [GRCh38]
Chr10:43606774 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1817A>T (p.Tyr606Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410280] Chr10:43113613 [GRCh38]
Chr10:43609061 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.783C>A (p.Thr261=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412150] Chr10:43105109 [GRCh38]
Chr10:43600557 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2937G>A (p.Glu979=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440121] Chr10:43123806 [GRCh38]
Chr10:43619254 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1476C>T (p.Thr492=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397040] Chr10:43111419 [GRCh38]
Chr10:43606867 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1934C>G (p.Ser645Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410963] Chr10:43114534 [GRCh38]
Chr10:43609982 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1974C>T (p.His658=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423546] Chr10:43114574 [GRCh38]
Chr10:43610022 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2928C>T (p.Cys976=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440015]|Multiple endocrine neoplasia, type 2 [RCV003102886] Chr10:43123797 [GRCh38]
Chr10:43619245 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2929A>G (p.Ser977Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440022] Chr10:43123798 [GRCh38]
Chr10:43619246 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1126G>A (p.Val376Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444049] Chr10:43109093 [GRCh38]
Chr10:43604541 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3274A>G (p.Asn1092Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325021] Chr10:43128198 [GRCh38]
Chr10:43623646 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.653C>G (p.Pro218Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364311]|Multiple endocrine neoplasia, type 2 [RCV003103307] Chr10:43104979 [GRCh38]
Chr10:43600427 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.783C>G (p.Thr261=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412156]|Multiple endocrine neoplasia, type 2 [RCV003645919] Chr10:43105109 [GRCh38]
Chr10:43600557 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1872C>T (p.Asp624=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415126] Chr10:43113668 [GRCh38]
Chr10:43609116 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.887T>A (p.Leu296Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375979] Chr10:43106395 [GRCh38]
Chr10:43601843 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2062T>G (p.Ser688Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002299846] Chr10:43114662 [GRCh38]
Chr10:43610110 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2493C>T (p.Gly831=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430974]|Multiple endocrine neoplasia, type 2 [RCV003533261] Chr10:43119631 [GRCh38]
Chr10:43615079 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1776G>C (p.Gly592=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403992] Chr10:43113572 [GRCh38]
Chr10:43609020 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1245G>C (p.Arg415Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393937] Chr10:43109212 [GRCh38]
Chr10:43604660 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1258G>A (p.Ala420Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427887]|Multiple endocrine neoplasia, type 2 [RCV003103483] Chr10:43109225 [GRCh38]
Chr10:43604673 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1664T>G (p.Phe555Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403881]|Hirschsprung disease, susceptibility to, 1 [RCV003492764] Chr10:43112868 [GRCh38]
Chr10:43608316 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.1225T>A (p.Ser409Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364397] Chr10:43109192 [GRCh38]
Chr10:43604640 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.45dup (p.Leu16fs) duplication Hereditary cancer-predisposing syndrome [RCV002342361] Chr10:43077302..43077303 [GRCh38]
Chr10:43572750..43572751 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1509A>C (p.Thr503=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002390046]|Multiple endocrine neoplasia, type 2 [RCV003095260] Chr10:43111452 [GRCh38]
Chr10:43606900 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2247A>G (p.Arg749=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428414] Chr10:43116694 [GRCh38]
Chr10:43612142 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.*6C>G single nucleotide variant RET-related condition [RCV003943352]|not provided [RCV003443028]|not specified [RCV002308640] Chr10:43128275 [GRCh38]
Chr10:43623723 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1079_1080delinsAA (p.Arg360Gln) indel Hereditary cancer-predisposing syndrome [RCV002423881] Chr10:43109046..43109047 [GRCh38]
Chr10:43604494..43604495 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1440A>G (p.Glu480=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394347] Chr10:43111383 [GRCh38]
Chr10:43606831 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2718G>A (p.Val906=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431241] Chr10:43120191 [GRCh38]
Chr10:43615639 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2084C>G (p.Pro695Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423923] Chr10:43114684 [GRCh38]
Chr10:43610132 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2085C>A (p.Pro695=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423938] Chr10:43114685 [GRCh38]
Chr10:43610133 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.821C>T (p.Ala274Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427984] Chr10:43105147 [GRCh38]
Chr10:43600595 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1779A>C (p.Gly593=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404026] Chr10:43113575 [GRCh38]
Chr10:43609023 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.177C>G (p.Ala59=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404049] Chr10:43100562 [GRCh38]
Chr10:43596010 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1829A>C (p.Asn610Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410487] Chr10:43113625 [GRCh38]
Chr10:43609073 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.512G>A (p.Arg171Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344216] Chr10:43102516 [GRCh38]
Chr10:43597964 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2106C>T (p.Asn702=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424305]|Multiple endocrine neoplasia, type 2 [RCV003645929] Chr10:43114706 [GRCh38]
Chr10:43610154 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2370G>A (p.Leu790=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457774]|Multiple endocrine neoplasia, type 2 [RCV003111534] Chr10:43118458 [GRCh38]
Chr10:43613906 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1451T>C (p.Met484Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394623]|Multiple endocrine neoplasia, type 2 [RCV003533227] Chr10:43111394 [GRCh38]
Chr10:43606842 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1611A>G (p.Pro537=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400904] Chr10:43112187 [GRCh38]
Chr10:43607635 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.784G>A (p.Val262Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412199] Chr10:43105110 [GRCh38]
Chr10:43600558 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2094C>G (p.Asp698Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424081] Chr10:43114694 [GRCh38]
Chr10:43610142 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3187+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322804]|Multiple endocrine neoplasia, type 2 [RCV003533162] Chr10:43126725 [GRCh38]
Chr10:43622173 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2322A>G (p.Ser774=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457572]|Multiple endocrine neoplasia, type 2 [RCV003098803] Chr10:43118410 [GRCh38]
Chr10:43613858 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2099T>C (p.Met700Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424159]|Multiple endocrine neoplasia, type 2 [RCV003645928] Chr10:43114699 [GRCh38]
Chr10:43610147 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2363T>A (p.Ile788Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450126] Chr10:43118451 [GRCh38]
Chr10:43613899 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1375G>C (p.Glu459Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383804]|Multiple endocrine neoplasia, type 2 [RCV003645923] Chr10:43111318 [GRCh38]
Chr10:43606766 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.27G>C (p.Ala9=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441573] Chr10:43077285 [GRCh38]
Chr10:43572733 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3220C>G (p.Pro1074Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445482] Chr10:43128144 [GRCh38]
Chr10:43623592 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3171T>C (p.Ile1057=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322642]|not provided [RCV003232609] Chr10:43126706 [GRCh38]
Chr10:43622154 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.1746T>G (p.Pro582=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401509] Chr10:43112950 [GRCh38]
Chr10:43608398 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2397G>T (p.Pro799=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450214] Chr10:43119535 [GRCh38]
Chr10:43614983 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.23C>T (p.Ala8Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450247] Chr10:43077281 [GRCh38]
Chr10:43572729 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1914C>G (p.Ile638Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410585] Chr10:43114514 [GRCh38]
Chr10:43609962 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.485C>T (p.Pro162Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340333] Chr10:43102489 [GRCh38]
Chr10:43597937 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.235C>A (p.Arg79=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448514] Chr10:43100620 [GRCh38]
Chr10:43596068 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2818C>T (p.Leu940=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441770] Chr10:43123687 [GRCh38]
Chr10:43619135 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.421G>A (p.Gly141Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328032]|Multiple endocrine neoplasia, type 2 [RCV003094587] Chr10:43102425 [GRCh38]
Chr10:43597873 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.522C>T (p.Phe174=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340844]|Multiple endocrine neoplasia, type 2 [RCV003102708] Chr10:43102526 [GRCh38]
Chr10:43597974 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2187T>C (p.Thr729=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425509] Chr10:43116634 [GRCh38]
Chr10:43612082 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.738C>G (p.His246Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380435]|Multiple endocrine neoplasia, type 2 [RCV003776381] Chr10:43105064 [GRCh38]
Chr10:43600512 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1599C>A (p.Gly533=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398571] Chr10:43112175 [GRCh38]
Chr10:43607623 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.333C>T (p.Val111=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326570] Chr10:43100718 [GRCh38]
Chr10:43596166 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.183G>A (p.Glu61=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412819] Chr10:43100568 [GRCh38]
Chr10:43596016 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1034G>A (p.Ser345Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391685]|Multiple endocrine neoplasia, type 2 [RCV003645924] Chr10:43106542 [GRCh38]
Chr10:43601990 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3253A>T (p.Thr1085Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445626] Chr10:43128177 [GRCh38]
Chr10:43623625 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.868-4G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373374]|Multiple endocrine neoplasia, type 2 [RCV003776528] Chr10:43106372 [GRCh38]
Chr10:43601820 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3217A>C (p.Ser1073Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445443] Chr10:43128141 [GRCh38]
Chr10:43623589 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1760-2_1760-1del deletion Hereditary cancer-predisposing syndrome [RCV002401656]|not provided [RCV003134433] Chr10:43113554..43113555 [GRCh38]
Chr10:43609002..43609003 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.3223G>A (p.Val1075Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445504]|Multiple endocrine neoplasia, type 2 [RCV003775081] Chr10:43128147 [GRCh38]
Chr10:43623595 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.735G>T (p.Val245=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380304] Chr10:43105061 [GRCh38]
Chr10:43600509 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2421C>G (p.Ala807=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450406] Chr10:43119559 [GRCh38]
Chr10:43615007 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1920C>A (p.Ala640=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410699] Chr10:43114520 [GRCh38]
Chr10:43609968 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2199C>A (p.Gly733=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425633] Chr10:43116646 [GRCh38]
Chr10:43612094 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2979C>A (p.Asp993Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442173] Chr10:43124922 [GRCh38]
Chr10:43620370 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1296A>C (p.Ala432=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380644] Chr10:43111239 [GRCh38]
Chr10:43606687 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.48G>A (p.Leu16=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340636]|Multiple endocrine neoplasia, type 2 [RCV003096518] Chr10:43077306 [GRCh38]
Chr10:43572754 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.564C>A (p.Phe188Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002345166]|Hirschsprung disease, susceptibility to, 1 [RCV003471346]|Multiple endocrine neoplasia, type 2 [RCV003533185] Chr10:43102568 [GRCh38]
Chr10:43598016 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2695G>A (p.Val899Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428964]|Multiple endocrine neoplasia, type 2 [RCV003533264] Chr10:43120168 [GRCh38]
Chr10:43615616 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1003C>T (p.Pro335Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405591] Chr10:43106511 [GRCh38]
Chr10:43601959 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.874G>T (p.Val292Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373552]|Multiple endocrine neoplasia, type 2 [RCV003645921] Chr10:43106382 [GRCh38]
Chr10:43601830 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1769T>G (p.Ile590Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401785] Chr10:43113565 [GRCh38]
Chr10:43609013 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1109T>C (p.Met370Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428857] Chr10:43109076 [GRCh38]
Chr10:43604524 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1715T>C (p.Val572Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414751] Chr10:43112919 [GRCh38]
Chr10:43608367 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1575G>T (p.Arg525=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405710] Chr10:43112151 [GRCh38]
Chr10:43607599 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.193A>T (p.Ser65Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413153] Chr10:43100578 [GRCh38]
Chr10:43596026 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1947G>C (p.Ser649=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413280] Chr10:43114547 [GRCh38]
Chr10:43609995 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1600C>G (p.Leu534Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398687]|Multiple endocrine neoplasia, type 2 [RCV003096989] Chr10:43112176 [GRCh38]
Chr10:43607624 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2471C>A (p.Pro824His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450612] Chr10:43119609 [GRCh38]
Chr10:43615057 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.55C>A (p.Leu19Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344878] Chr10:43077313 [GRCh38]
Chr10:43572761 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1056T>C (p.His352=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414780] Chr10:43106564 [GRCh38]
Chr10:43602012 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1511T>G (p.Val504Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392226] Chr10:43111454 [GRCh38]
Chr10:43606902 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.674C>T (p.Thr225Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377957]|Multiple endocrine neoplasia, type 2 [RCV003533193] Chr10:43105000 [GRCh38]
Chr10:43600448 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1536G>A (p.Glu512=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403046]|Multiple endocrine neoplasia, type 2 [RCV003100708] Chr10:43112112 [GRCh38]
Chr10:43607560 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2288A>G (p.Asn763Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446186] Chr10:43118376 [GRCh38]
Chr10:43613824 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.866A>C (p.Glu289Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449664] Chr10:43105192 [GRCh38]
Chr10:43600640 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.192C>T (p.Pro64=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410876] Chr10:43100577 [GRCh38]
Chr10:43596025 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1518G>T (p.Gly506=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392365] Chr10:43111461 [GRCh38]
Chr10:43606909 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3138C>T (p.Ala1046=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320664] Chr10:43126673 [GRCh38]
Chr10:43622121 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1725C>A (p.Thr575=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399108] Chr10:43112929 [GRCh38]
Chr10:43608377 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3126C>A (p.Asp1042Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320529]|Multiple endocrine neoplasia, type 2 [RCV003645909] Chr10:43126661 [GRCh38]
Chr10:43622109 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.760G>T (p.Val254Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396209]|Multiple endocrine neoplasia, type 2 [RCV003099699] Chr10:43105086 [GRCh38]
Chr10:43600534 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1247C>T (p.Ala416Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396233] Chr10:43109214 [GRCh38]
Chr10:43604662 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1540G>A (p.Gly514Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403170]|Multiple endocrine neoplasia, type 2 [RCV003100710] Chr10:43112116 [GRCh38]
Chr10:43607564 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1230C>T (p.Leu410=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369412]|Multiple endocrine neoplasia, type 2 [RCV003645917] Chr10:43109197 [GRCh38]
Chr10:43604645 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2441G>A (p.Gly814Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455352]|Multiple endocrine neoplasia, type 2 [RCV003645931] Chr10:43119579 [GRCh38]
Chr10:43615027 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.477C>T (p.Ser159=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330681] Chr10:43102481 [GRCh38]
Chr10:43597929 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1549C>A (p.Leu517Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403317] Chr10:43112125 [GRCh38]
Chr10:43607573 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.246G>A (p.Glu82=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455537] Chr10:43100631 [GRCh38]
Chr10:43596079 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2072G>T (p.Gly691Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422164] Chr10:43114672 [GRCh38]
Chr10:43610120 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.824G>A (p.Gly275Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430152]|Multiple endocrine neoplasia, type 2 [RCV003099884] Chr10:43105150 [GRCh38]
Chr10:43600598 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1671C>T (p.Thr557=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405866] Chr10:43112875 [GRCh38]
Chr10:43608323 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1026C>G (p.Ala342=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381017] Chr10:43106534 [GRCh38]
Chr10:43601982 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.315C>T (p.Ser105=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320913] Chr10:43100700 [GRCh38]
Chr10:43596148 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.903A>G (p.Ala301=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378452] Chr10:43106411 [GRCh38]
Chr10:43601859 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2545G>A (p.Gly849Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455807] Chr10:43119683 [GRCh38]
Chr10:43615131 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3158C>T (p.Pro1053Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320884]|Multiple endocrine neoplasia, type 2 [RCV003102315] Chr10:43126693 [GRCh38]
Chr10:43622141 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3160T>C (p.Ser1054Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320940] Chr10:43126695 [GRCh38]
Chr10:43622143 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1550T>G (p.Leu517Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403378]|Multiple endocrine neoplasia, type 2 [RCV003100719] Chr10:43112126 [GRCh38]
Chr10:43607574 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1554C>G (p.Ser518=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403423] Chr10:43112130 [GRCh38]
Chr10:43607578 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2075C>A (p.Ala692Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422199]|Multiple endocrine neoplasia, type 2 [RCV003098599] Chr10:43114675 [GRCh38]
Chr10:43610123 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.384A>T (p.Ser128=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364109] Chr10:43102388 [GRCh38]
Chr10:43597836 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1877A>T (p.Gln626Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002302011] Chr10:43113673 [GRCh38]
Chr10:43609121 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1641T>C (p.Asp547=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403566] Chr10:43112217 [GRCh38]
Chr10:43607665 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2393-4C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430651] Chr10:43119527 [GRCh38]
Chr10:43614975 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.947G>C (p.Ser316Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443514] Chr10:43106455 [GRCh38]
Chr10:43601903 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2252G>A (p.Gly751Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443568]|Multiple endocrine neoplasia, type 2 [RCV003098749] Chr10:43116699 [GRCh38]
Chr10:43612147 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2258C>A (p.Thr753Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443654] Chr10:43116705 [GRCh38]
Chr10:43612153 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3243T>A (p.Asp1081Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324810] Chr10:43128167 [GRCh38]
Chr10:43623615 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2846G>T (p.Gly949Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002298166] Chr10:43123715 [GRCh38]
Chr10:43619163 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2622C>T (p.Asp874=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002426413] Chr10:43120095 [GRCh38]
Chr10:43615543 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1158G>C (p.Ala386=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357424]|Multiple endocrine neoplasia, type 2 [RCV003120914] Chr10:43109125 [GRCh38]
Chr10:43604573 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2512C>T (p.Leu838=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432949] Chr10:43119650 [GRCh38]
Chr10:43615098 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1380C>G (p.Asp460Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381155] Chr10:43111323 [GRCh38]
Chr10:43606771 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1528G>T (p.Ala510Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400821] Chr10:43112104 [GRCh38]
Chr10:43607552 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1801G>A (p.Gly601Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410009] Chr10:43113597 [GRCh38]
Chr10:43609045 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.139G>C (p.Gly47Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389218] Chr10:43100524 [GRCh38]
Chr10:43595972 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3232A>G (p.Thr1078Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324750] Chr10:43128156 [GRCh38]
Chr10:43623604 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1381A>T (p.Thr461Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381170] Chr10:43111324 [GRCh38]
Chr10:43606772 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2975C>A (p.Pro992Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002839562] Chr10:43124918 [GRCh38]
Chr10:43620366 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2883C>T (p.Phe961=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002880502] Chr10:43123752 [GRCh38]
Chr10:43619200 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1001G>A (p.Trp334Ter) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002863139] Chr10:43106509 [GRCh38]
Chr10:43601957 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.2905C>T (p.Arg969Trp) single nucleotide variant not provided [RCV002462599] Chr10:43123774 [GRCh38]
Chr10:43619222 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.2136+10C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002731237] Chr10:43114746 [GRCh38]
Chr10:43610194 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2038G>T (p.Ala680Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002775459] Chr10:43114638 [GRCh38]
Chr10:43610086 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1453G>T (p.Val485Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003073857] Chr10:43111396 [GRCh38]
Chr10:43606844 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1317G>A (p.Gln439=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002685849] Chr10:43111260 [GRCh38]
Chr10:43606708 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1215C>G (p.Pro405=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002616420] Chr10:43109182 [GRCh38]
Chr10:43604630 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2567G>C (p.Trp856Ser) single nucleotide variant not provided [RCV002461782] Chr10:43119705 [GRCh38]
Chr10:43615153 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1883C>T (p.Pro628Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002972341] Chr10:43114483 [GRCh38]
Chr10:43609931 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2566T>C (p.Trp856Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002774833] Chr10:43119704 [GRCh38]
Chr10:43615152 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2989G>T (p.Val997Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003034177] Chr10:43124932 [GRCh38]
Chr10:43620380 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2608-14A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003095390] Chr10:43120067 [GRCh38]
Chr10:43615515 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3188-16C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003099015] Chr10:43128096 [GRCh38]
Chr10:43623544 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1682G>A (p.Ser561Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002975642] Chr10:43112886 [GRCh38]
Chr10:43608334 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3209C>G (p.Pro1070Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002756511] Chr10:43128133 [GRCh38]
Chr10:43623581 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1932C>T (p.Phe644=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003034336] Chr10:43114532 [GRCh38]
Chr10:43609980 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3322T>G (p.Leu1108Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002756520] Chr10:43128246 [GRCh38]
Chr10:43623694 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3048G>C (p.Leu1016Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003017578] Chr10:43126583 [GRCh38]
Chr10:43622031 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.968C>A (p.Thr323Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002843831] Chr10:43106476 [GRCh38]
Chr10:43601924 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1648G>T (p.Gly550Trp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002903725] Chr10:43112224 [GRCh38]
Chr10:43607672 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2631C>T (p.Ala877=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002880414] Chr10:43120104 [GRCh38]
Chr10:43615552 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1523-14T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002731144] Chr10:43112085 [GRCh38]
Chr10:43607533 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.868-17C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003076219] Chr10:43106359 [GRCh38]
Chr10:43601807 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1822A>G (p.Thr608Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002731511] Chr10:43113618 [GRCh38]
Chr10:43609066 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.338-14A>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003013877] Chr10:43102328 [GRCh38]
Chr10:43597776 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1486G>T (p.Ala496Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002838868] Chr10:43111429 [GRCh38]
Chr10:43606877 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2458C>T (p.Arg820Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002726686] Chr10:43119596 [GRCh38]
Chr10:43615044 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2940-12T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002771375] Chr10:43124871 [GRCh38]
Chr10:43620319 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2731-11C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003016481] Chr10:43121935 [GRCh38]
Chr10:43617383 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.187G>A (p.Val63Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002861993] Chr10:43100572 [GRCh38]
Chr10:43596020 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.56T>C (p.Leu19Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003170897]|Multiple endocrine neoplasia, type 2 [RCV003033756] Chr10:43077314 [GRCh38]
Chr10:43572762 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.351C>G (p.Pro117=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002995782] Chr10:43102355 [GRCh38]
Chr10:43597803 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1082A>T (p.Asn361Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003074418] Chr10:43109049 [GRCh38]
Chr10:43604497 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1122G>A (p.Val374=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002771023] Chr10:43109089 [GRCh38]
Chr10:43604537 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.129C>G (p.Asp43Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375669]|Multiple endocrine neoplasia, type 2 [RCV002686228] Chr10:43100514 [GRCh38]
Chr10:43595962 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1154G>A (p.Gly385Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002967552] Chr10:43109121 [GRCh38]
Chr10:43604569 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.73+18C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002972116] Chr10:43077349 [GRCh38]
Chr10:43572797 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1649-4G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002816181] Chr10:43112849 [GRCh38]
Chr10:43608297 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1956_1965delinsACCACTCTACCACAAGTT (p.Ser653fs) indel Multiple endocrine neoplasia, type 2 [RCV002903757] Chr10:43114556..43114565 [GRCh38]
Chr10:43610004..43610013 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.3187+9T>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003015033] Chr10:43126731 [GRCh38]
Chr10:43622179 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.135_136delinsGT (p.Ala46Ser) indel Multiple endocrine neoplasia, type 2 [RCV002755660] Chr10:43100520..43100521 [GRCh38]
Chr10:43595968..43595969 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.73+11C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002996553] Chr10:43077342 [GRCh38]
Chr10:43572790 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1363G>T (p.Val455Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003076811]|not specified [RCV003321972] Chr10:43111306 [GRCh38]
Chr10:43606754 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2137-384C>T single nucleotide variant not provided [RCV002511629] Chr10:43116200 [GRCh38]
Chr10:43611648 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.379C>T (p.Leu127=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002863609] Chr10:43102383 [GRCh38]
Chr10:43597831 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2284+18G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003015748] Chr10:43116749 [GRCh38]
Chr10:43612197 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.733G>T (p.Val245Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002756985] Chr10:43105059 [GRCh38]
Chr10:43600507 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.396T>A (p.Leu132=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002662336] Chr10:43102400 [GRCh38]
Chr10:43597848 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1481G>A (p.Arg494Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003039455] Chr10:43111424 [GRCh38]
Chr10:43606872 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2392+11C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002761669] Chr10:43118491 [GRCh38]
Chr10:43613939 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3030T>C (p.Val1010=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003039666] Chr10:43124973 [GRCh38]
Chr10:43620421 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1063+12T>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002914441] Chr10:43106583 [GRCh38]
Chr10:43602031 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.731C>A (p.Thr244Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002740524] Chr10:43105057 [GRCh38]
Chr10:43600505 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.76G>A (p.Ala26Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002740314] Chr10:43100461 [GRCh38]
Chr10:43595909 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.815T>G (p.Phe272Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003357990]|Multiple endocrine neoplasia, type 2 [RCV002735400] Chr10:43105141 [GRCh38]
Chr10:43600589 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1131T>C (p.Asn377=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002889223] Chr10:43109098 [GRCh38]
Chr10:43604546 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.889C>A (p.Arg297Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003294398]|Multiple endocrine neoplasia, type 2 [RCV003055540] Chr10:43106397 [GRCh38]
Chr10:43601845 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2802-4G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003021605] Chr10:43123667 [GRCh38]
Chr10:43619115 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2607+15C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002740360] Chr10:43119760 [GRCh38]
Chr10:43615208 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2514G>C (p.Leu838=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003021658] Chr10:43119652 [GRCh38]
Chr10:43615100 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1065G>T (p.Arg355Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003078570] Chr10:43109032 [GRCh38]
Chr10:43604480 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.867+8T>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003039161] Chr10:43105201 [GRCh38]
Chr10:43600649 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1196C>G (p.Pro399Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002953486] Chr10:43109163 [GRCh38]
Chr10:43604611 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1824C>T (p.Thr608=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002706337] Chr10:43113620 [GRCh38]
Chr10:43609068 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1880-17A>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003079607] Chr10:43114463 [GRCh38]
Chr10:43609911 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.297G>A (p.Arg99=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003021996] Chr10:43100682 [GRCh38]
Chr10:43596130 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2731-15C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002847793] Chr10:43121931 [GRCh38]
Chr10:43617379 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1044_1051dup (p.Val351fs) duplication Multiple endocrine neoplasia, type 2 [RCV003054991] Chr10:43106549..43106550 [GRCh38]
Chr10:43601997..43601998 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.3040-9G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002975931] Chr10:43126566 [GRCh38]
Chr10:43622014 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2532G>A (p.Arg844=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003021984] Chr10:43119670 [GRCh38]
Chr10:43615118 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.930G>C (p.Leu310=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003167853]|Multiple endocrine neoplasia, type 2 [RCV002885004] Chr10:43106438 [GRCh38]
Chr10:43601886 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.369C>A (p.Leu123=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002868046] Chr10:43102373 [GRCh38]
Chr10:43597821 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1264-4del deletion Hereditary cancer-predisposing syndrome [RCV003308367]|Multiple endocrine neoplasia, type 2 [RCV002948872] Chr10:43111198 [GRCh38]
Chr10:43606646 [GRCh37]
Chr10:10q11.21
benign|uncertain significance
NM_020975.6(RET):c.337A>G (p.Asn113Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002909429] Chr10:43100722 [GRCh38]
Chr10:43596170 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.15G>A (p.Thr5=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002735243] Chr10:43077273 [GRCh38]
Chr10:43572721 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1360G>C (p.Val454Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002949006] Chr10:43111303 [GRCh38]
Chr10:43606751 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.868-15C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002637859] Chr10:43106361 [GRCh38]
Chr10:43601809 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.258C>A (p.Ile86=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002867316] Chr10:43100643 [GRCh38]
Chr10:43596091 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1880-3C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002866529] Chr10:43114477 [GRCh38]
Chr10:43609925 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2241A>G (p.Lys747=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002923680] Chr10:43116688 [GRCh38]
Chr10:43612136 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.117G>A (p.Lys39=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003018246] Chr10:43100502 [GRCh38]
Chr10:43595950 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1880-5C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003002689] Chr10:43114475 [GRCh38]
Chr10:43609923 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1063+17G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002662586] Chr10:43106588 [GRCh38]
Chr10:43602036 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2906G>A (p.Arg969Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002761246] Chr10:43123775 [GRCh38]
Chr10:43619223 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1760-11T>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003019684] Chr10:43113545 [GRCh38]
Chr10:43608993 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2590T>C (p.Tyr864His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002761641] Chr10:43119728 [GRCh38]
Chr10:43615176 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3302T>C (p.Leu1101Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003273988]|Multiple endocrine neoplasia, type 2 [RCV002691191] Chr10:43128226 [GRCh38]
Chr10:43623674 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.338-13C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003053134] Chr10:43102329 [GRCh38]
Chr10:43597777 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.716T>C (p.Leu239Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003167652]|Multiple endocrine neoplasia, type 2 [RCV002690928] Chr10:43105042 [GRCh38]
Chr10:43600490 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.436T>C (p.Tyr146His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002867178] Chr10:43102440 [GRCh38]
Chr10:43597888 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3116C>G (p.Pro1039Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002591722] Chr10:43126651 [GRCh38]
Chr10:43622099 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.962G>A (p.Gly321Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002913291] Chr10:43106470 [GRCh38]
Chr10:43601918 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1759+10G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002949726] Chr10:43112973 [GRCh38]
Chr10:43608421 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.830A>G (p.Asp277Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002953008] Chr10:43105156 [GRCh38]
Chr10:43600604 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1901_1902delinsTT (p.Cys634Phe) indel Multiple endocrine neoplasia, type 2 [RCV002848185] Chr10:43114501..43114502 [GRCh38]
Chr10:43609949..43609950 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.2393-16del deletion Multiple endocrine neoplasia, type 2 [RCV002619239] Chr10:43119511 [GRCh38]
Chr10:43614959 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.1879+8G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002736762] Chr10:43113683 [GRCh38]
Chr10:43609131 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2731-7T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003038155] Chr10:43121939 [GRCh38]
Chr10:43617387 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2801+19C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003077708] Chr10:43122035 [GRCh38]
Chr10:43617483 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1571G>A (p.Arg524Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002847726] Chr10:43112147 [GRCh38]
Chr10:43607595 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2801+19C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002820731] Chr10:43122035 [GRCh38]
Chr10:43617483 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1389G>A (p.Gly463=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002927447] Chr10:43111332 [GRCh38]
Chr10:43606780 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2436G>A (p.Leu812=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002979403] Chr10:43119574 [GRCh38]
Chr10:43615022 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2872G>C (p.Glu958Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003054579] Chr10:43123741 [GRCh38]
Chr10:43619189 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2608-3C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002706731] Chr10:43120078 [GRCh38]
Chr10:43615526 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.337+8_337+9delinsTA indel Multiple endocrine neoplasia, type 2 [RCV002952968] Chr10:43100730..43100731 [GRCh38]
Chr10:43596178..43596179 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1626G>A (p.Glu542=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002620766] Chr10:43112202 [GRCh38]
Chr10:43607650 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2297C>A (p.Pro766Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002999546] Chr10:43118385 [GRCh38]
Chr10:43613833 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1965C>G (p.Phe655Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002619118] Chr10:43114565 [GRCh38]
Chr10:43610013 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.395T>G (p.Leu132Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003040902] Chr10:43102399 [GRCh38]
Chr10:43597847 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2843G>C (p.Gly948Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003005310] Chr10:43123712 [GRCh38]
Chr10:43619160 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3141C>T (p.Pro1047=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003167875]|Multiple endocrine neoplasia, type 2 [RCV002894998] Chr10:43126676 [GRCh38]
Chr10:43622124 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.204G>C (p.Leu68=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002575932] Chr10:43100589 [GRCh38]
Chr10:43596037 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.822G>A (p.Ala274=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002853199] Chr10:43105148 [GRCh38]
Chr10:43600596 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2730+16G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003025162] Chr10:43120219 [GRCh38]
Chr10:43615667 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2689C>G (p.Arg897Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002627200] Chr10:43120162 [GRCh38]
Chr10:43615610 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1027A>C (p.Asn343His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003042817] Chr10:43106535 [GRCh38]
Chr10:43601983 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2136+6G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002626602] Chr10:43114742 [GRCh38]
Chr10:43610190 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.910G>A (p.Val304Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003085212] Chr10:43106418 [GRCh38]
Chr10:43601866 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1622G>A (p.Cys541Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003041045] Chr10:43112198 [GRCh38]
Chr10:43607646 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.2534C>T (p.Ala845Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003274180]|Multiple endocrine neoplasia, type 2 [RCV003056542] Chr10:43119672 [GRCh38]
Chr10:43615120 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.546A>G (p.Pro182=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003056446] Chr10:43102550 [GRCh38]
Chr10:43597998 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3078C>A (p.Ser1026=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002642913] Chr10:43126613 [GRCh38]
Chr10:43622061 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+13G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002663450] Chr10:43077344 [GRCh38]
Chr10:43572792 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.626-18T>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002890084] Chr10:43104934 [GRCh38]
Chr10:43600382 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.555C>A (p.Phe185Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003083502] Chr10:43102559 [GRCh38]
Chr10:43598007 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.73+14G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002802060] Chr10:43077345 [GRCh38]
Chr10:43572793 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1148G>A (p.Gly383Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003170855]|Multiple endocrine neoplasia, type 2 [RCV003005532] Chr10:43109115 [GRCh38]
Chr10:43604563 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.659G>C (p.Ser220Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002711527] Chr10:43104985 [GRCh38]
Chr10:43600433 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3325A>G (p.Met1109Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002624474] Chr10:43128249 [GRCh38]
Chr10:43623697 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.252C>T (p.Asn84=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003057216] Chr10:43100637 [GRCh38]
Chr10:43596085 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1969A>T (p.Ile657Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002825782] Chr10:43114569 [GRCh38]
Chr10:43610017 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2451C>A (p.Arg817=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002786795] Chr10:43119589 [GRCh38]
Chr10:43615037 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1366A>G (p.Thr456Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002890347] Chr10:43111309 [GRCh38]
Chr10:43606757 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.723C>G (p.Ala241=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002623976] Chr10:43105049 [GRCh38]
Chr10:43600497 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2318T>G (p.Leu773Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003059101] Chr10:43118406 [GRCh38]
Chr10:43613854 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3187+4G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003007585] Chr10:43126726 [GRCh38]
Chr10:43622174 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1330T>C (p.Ser444Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002700147] Chr10:43111273 [GRCh38]
Chr10:43606721 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1159G>A (p.Gly387Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002576137] Chr10:43109126 [GRCh38]
Chr10:43604574 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2253G>A (p.Gly751=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002918274] Chr10:43116700 [GRCh38]
Chr10:43612148 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3146C>G (p.Pro1049Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002701288] Chr10:43126681 [GRCh38]
Chr10:43622129 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3215A>G (p.Glu1072Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002786729] Chr10:43128139 [GRCh38]
Chr10:43623587 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.375C>T (p.Val125=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002644129] Chr10:43102379 [GRCh38]
Chr10:43597827 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3076T>G (p.Ser1026Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002828711] Chr10:43126611 [GRCh38]
Chr10:43622059 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.793G>A (p.Glu265Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003057496]|not provided [RCV003236947] Chr10:43105119 [GRCh38]
Chr10:43600567 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.471C>T (p.Cys157=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002958582] Chr10:43102475 [GRCh38]
Chr10:43597923 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2802-13del deletion Multiple endocrine neoplasia, type 2 [RCV003040867] Chr10:43123656 [GRCh38]
Chr10:43619104 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2130G>A (p.Lys710=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003023938] Chr10:43114730 [GRCh38]
Chr10:43610178 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.549C>T (p.Gly183=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002875577] Chr10:43102553 [GRCh38]
Chr10:43598001 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1064-17_1064-15del microsatellite Multiple endocrine neoplasia, type 2 [RCV002917677] Chr10:43109010..43109012 [GRCh38]
Chr10:43604458..43604460 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1463C>A (p.Thr488Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003056183] Chr10:43111406 [GRCh38]
Chr10:43606854 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1452G>C (p.Met484Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002643131] Chr10:43111395 [GRCh38]
Chr10:43606843 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2118G>A (p.Val706=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002890886] Chr10:43114718 [GRCh38]
Chr10:43610166 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1512G>A (p.Val504=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003041701] Chr10:43111455 [GRCh38]
Chr10:43606903 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1522+17G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002711066] Chr10:43111482 [GRCh38]
Chr10:43606930 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1014C>G (p.Thr338=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003061865] Chr10:43106522 [GRCh38]
Chr10:43601970 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+13G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002962769] Chr10:43077344 [GRCh38]
Chr10:43572792 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3053T>G (p.Leu1018Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003308209]|Multiple endocrine neoplasia, type 2 [RCV002646991] Chr10:43126588 [GRCh38]
Chr10:43622036 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2392+11C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002900155] Chr10:43118491 [GRCh38]
Chr10:43613939 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1880-14A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002627632] Chr10:43114466 [GRCh38]
Chr10:43609914 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1491G>C (p.Gln497His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003048783] Chr10:43111434 [GRCh38]
Chr10:43606882 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2262G>T (p.Thr754=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002675618] Chr10:43116709 [GRCh38]
Chr10:43612157 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1927_1929del (p.Leu643del) deletion Multiple endocrine neoplasia, type 2 [RCV003049336] Chr10:43114525..43114527 [GRCh38]
Chr10:43609973..43609975 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1116G>C (p.Leu372=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003048241] Chr10:43109083 [GRCh38]
Chr10:43604531 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1834T>C (p.Phe612Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003294495]|Multiple endocrine neoplasia, type 2 [RCV003090274] Chr10:43113630 [GRCh38]
Chr10:43609078 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2136+14C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003091189] Chr10:43114750 [GRCh38]
Chr10:43610198 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.360C>T (p.Thr120=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003062254] Chr10:43102364 [GRCh38]
Chr10:43597812 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.726G>T (p.Val242=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002671459] Chr10:43105052 [GRCh38]
Chr10:43600500 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1075A>C (p.Asn359His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002988518] Chr10:43109042 [GRCh38]
Chr10:43604490 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1285A>G (p.Asn429Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003086499] Chr10:43111228 [GRCh38]
Chr10:43606676 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3121G>A (p.Val1041Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002962526] Chr10:43126656 [GRCh38]
Chr10:43622104 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3187+16C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003087682] Chr10:43126738 [GRCh38]
Chr10:43622186 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.974C>T (p.Ala325Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003046872] Chr10:43106482 [GRCh38]
Chr10:43601930 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.625+16G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003010048] Chr10:43102645 [GRCh38]
Chr10:43598093 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1760-19G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003060617] Chr10:43113537 [GRCh38]
Chr10:43608985 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2940-9T>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003062068] Chr10:43124874 [GRCh38]
Chr10:43620322 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.676C>G (p.Arg226Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002833983] Chr10:43105002 [GRCh38]
Chr10:43600450 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.502C>G (p.Pro168Ala) single nucleotide variant Inborn genetic diseases [RCV002896040] Chr10:43102506 [GRCh38]
Chr10:43597954 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2536C>T (p.Leu846Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003009455] Chr10:43119674 [GRCh38]
Chr10:43615122 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1003C>G (p.Pro335Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002937435] Chr10:43106511 [GRCh38]
Chr10:43601959 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1078C>T (p.Arg360Trp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003062255] Chr10:43109045 [GRCh38]
Chr10:43604493 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1759+17C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002856613] Chr10:43112980 [GRCh38]
Chr10:43608428 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3040-10T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002629096] Chr10:43126565 [GRCh38]
Chr10:43622013 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2396C>A (p.Pro799Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003028175] Chr10:43119534 [GRCh38]
Chr10:43614982 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2848A>C (p.Asn950His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003167949]|Multiple endocrine neoplasia, type 2 [RCV002937569] Chr10:43123717 [GRCh38]
Chr10:43619165 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2401C>T (p.Leu801Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003048395] Chr10:43119539 [GRCh38]
Chr10:43614987 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1522+14C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002856655] Chr10:43111479 [GRCh38]
Chr10:43606927 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.915T>A (p.Pro305=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003048398] Chr10:43106423 [GRCh38]
Chr10:43601871 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2802-10CT[2] microsatellite Multiple endocrine neoplasia, type 2 [RCV002939036] Chr10:43123661..43123662 [GRCh38]
Chr10:43619109..43619110 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2519A>T (p.His840Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003029168] Chr10:43119657 [GRCh38]
Chr10:43615105 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1129A>G (p.Asn377Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003089650] Chr10:43109096 [GRCh38]
Chr10:43604544 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2554A>T (p.Ile852Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002963236] Chr10:43119692 [GRCh38]
Chr10:43615140 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1106C>A (p.Thr369Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003031111] Chr10:43109073 [GRCh38]
Chr10:43604521 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.407A>G (p.Glu136Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003010036] Chr10:43102411 [GRCh38]
Chr10:43597859 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2136+11C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002877097] Chr10:43114747 [GRCh38]
Chr10:43610195 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1924G>A (p.Val642Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002922930] Chr10:43114524 [GRCh38]
Chr10:43609972 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.278G>A (p.Gly93Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003047985] Chr10:43100663 [GRCh38]
Chr10:43596111 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2109G>C (p.Gln703His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002770592] Chr10:43114709 [GRCh38]
Chr10:43610157 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3170T>A (p.Ile1057Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002900435] Chr10:43126705 [GRCh38]
Chr10:43622153 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2327T>A (p.Phe776Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002810652] Chr10:43118415 [GRCh38]
Chr10:43613863 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3190A>C (p.Met1064Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002900453] Chr10:43128114 [GRCh38]
Chr10:43623562 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1998G>A (p.Lys666=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003088375] Chr10:43114598 [GRCh38]
Chr10:43610046 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1264-13T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002627595] Chr10:43111194 [GRCh38]
Chr10:43606642 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.153G>C (p.Leu51=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003061344] Chr10:43100538 [GRCh38]
Chr10:43595986 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.626-19_626-18del deletion Multiple endocrine neoplasia, type 2 [RCV002632361] Chr10:43104933..43104934 [GRCh38]
Chr10:43600381..43600382 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3149_3150delinsCT (p.Arg1050Pro) indel Multiple endocrine neoplasia, type 2 [RCV002812164] Chr10:43126684..43126685 [GRCh38]
Chr10:43622132..43622133 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.74-20C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002810482] Chr10:43100439 [GRCh38]
Chr10:43595887 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1518G>C (p.Gly506=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002933775] Chr10:43111461 [GRCh38]
Chr10:43606909 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.626-15C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002937697] Chr10:43104937 [GRCh38]
Chr10:43600385 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1264-11T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002631153] Chr10:43111196 [GRCh38]
Chr10:43606644 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.616C>T (p.Leu206Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003086365] Chr10:43102620 [GRCh38]
Chr10:43598068 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.524G>T (p.Arg175Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003029649] Chr10:43102528 [GRCh38]
Chr10:43597976 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.626-8G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002600696] Chr10:43104944 [GRCh38]
Chr10:43600392 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2975C>G (p.Pro992Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002899825] Chr10:43124918 [GRCh38]
Chr10:43620366 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1076A>G (p.Asn359Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003086962]|RET-related condition [RCV003943805] Chr10:43109043 [GRCh38]
Chr10:43604491 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1632G>A (p.Arg544=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003061156] Chr10:43112208 [GRCh38]
Chr10:43607656 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1893C>G (p.Asp631Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003047173] Chr10:43114493 [GRCh38]
Chr10:43609941 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2940-6C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002599147] Chr10:43124877 [GRCh38]
Chr10:43620325 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2802-10C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002601995] Chr10:43123661 [GRCh38]
Chr10:43619109 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3312A>G (p.Ser1104=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002629611] Chr10:43128236 [GRCh38]
Chr10:43623684 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2866C>T (p.Pro956Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003088760] Chr10:43123735 [GRCh38]
Chr10:43619183 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1861G>A (p.Glu621Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377870]|Multiple endocrine neoplasia, type 2 [RCV003086137] Chr10:43113657 [GRCh38]
Chr10:43609105 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1523-6C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003087055] Chr10:43112093 [GRCh38]
Chr10:43607541 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.626-18T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002647338] Chr10:43104934 [GRCh38]
Chr10:43600382 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.63_64delinsCT (p.Leu21_Leu22=) indel Multiple endocrine neoplasia, type 2 [RCV003011014] Chr10:43077321..43077322 [GRCh38]
Chr10:43572769..43572770 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2971_2972delinsAG (p.Glu991Arg) indel Multiple endocrine neoplasia, type 2 [RCV002770605] Chr10:43124914..43124915 [GRCh38]
Chr10:43620362..43620363 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1263+18G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002578619] Chr10:43109248 [GRCh38]
Chr10:43604696 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1522+16A>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002944187] Chr10:43111481 [GRCh38]
Chr10:43606929 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3071C>G (p.Ser1024Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002583483] Chr10:43126606 [GRCh38]
Chr10:43622054 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.366C>T (p.Tyr122=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002658048] Chr10:43102370 [GRCh38]
Chr10:43597818 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.337+6G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003093069] Chr10:43100728 [GRCh38]
Chr10:43596176 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.338-4G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003070145] Chr10:43102338 [GRCh38]
Chr10:43597786 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1147G>A (p.Gly383Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003052480] Chr10:43109114 [GRCh38]
Chr10:43604562 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.867+20G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002584802] Chr10:43105213 [GRCh38]
Chr10:43600661 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2533G>T (p.Ala845Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003294484]|Multiple endocrine neoplasia, type 2 [RCV003070233] Chr10:43119671 [GRCh38]
Chr10:43615119 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.271G>T (p.Asp91Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002587610] Chr10:43100656 [GRCh38]
Chr10:43596104 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2731-5T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002944263] Chr10:43121941 [GRCh38]
Chr10:43617389 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2136+17G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003070367] Chr10:43114753 [GRCh38]
Chr10:43610201 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.868-20A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002633537] Chr10:43106356 [GRCh38]
Chr10:43601804 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1263+20C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002586917] Chr10:43109250 [GRCh38]
Chr10:43604698 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2940-11C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002943721] Chr10:43124872 [GRCh38]
Chr10:43620320 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.890G>C (p.Arg297Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003052553] Chr10:43106398 [GRCh38]
Chr10:43601846 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.486C>G (p.Pro162=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002605942] Chr10:43102490 [GRCh38]
Chr10:43597938 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1263+15A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002608799] Chr10:43109245 [GRCh38]
Chr10:43604693 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2284+4C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002589952] Chr10:43116735 [GRCh38]
Chr10:43612183 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2394C>T (p.Gly798=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003167535]|Multiple endocrine neoplasia, type 2 [RCV002635734] Chr10:43119532 [GRCh38]
Chr10:43614980 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2111T>A (p.Val704Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002590047] Chr10:43114711 [GRCh38]
Chr10:43610159 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.485C>G (p.Pro162Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003050708] Chr10:43102489 [GRCh38]
Chr10:43597937 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3040-3C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003050908] Chr10:43126572 [GRCh38]
Chr10:43622020 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1760_1761delinsAA (p.Arg587Gln) indel Multiple endocrine neoplasia, type 2 [RCV002603333] Chr10:43113556..43113557 [GRCh38]
Chr10:43609004..43609005 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.279C>T (p.Gly93=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003071441] Chr10:43100664 [GRCh38]
Chr10:43596112 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.39G>C (p.Leu13=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002605791] Chr10:43077297 [GRCh38]
Chr10:43572745 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2075_2076delinsAA (p.Ala692Glu) indel Multiple endocrine neoplasia, type 2 [RCV002589031] Chr10:43114675..43114676 [GRCh38]
Chr10:43610123..43610124 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3118C>T (p.Leu1040=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003067023] Chr10:43126653 [GRCh38]
Chr10:43622101 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1733T>C (p.Ile578Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377899]|Multiple endocrine neoplasia, type 2 [RCV002611993] Chr10:43112937 [GRCh38]
Chr10:43608385 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1685C>T (p.Thr562Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002635500] Chr10:43112889 [GRCh38]
Chr10:43608337 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1879+1del deletion Inborn genetic diseases [RCV002722656] Chr10:43113674 [GRCh38]
Chr10:43609122 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.1142T>G (p.Phe381Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002610618] Chr10:43109109 [GRCh38]
Chr10:43604557 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2424A>C (p.Lys808Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV002814259] Chr10:43119562 [GRCh38]
Chr10:43615010 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2420C>G (p.Ala807Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003368065]|Multiple endocrine neoplasia, type 2a [RCV003154603] Chr10:43119558 [GRCh38]
Chr10:43615006 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2971G>A (p.Glu991Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296593] Chr10:43124914 [GRCh38]
Chr10:43620362 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2899G>A (p.Gly967Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296598] Chr10:43123768 [GRCh38]
Chr10:43619216 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2515G>C (p.Asp839His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296599]|Multiple endocrine neoplasia, type 2 [RCV003533836] Chr10:43119653 [GRCh38]
Chr10:43615101 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2007C>A (p.Ile669=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297657] Chr10:43114607 [GRCh38]
Chr10:43610055 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1055A>T (p.His352Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297661] Chr10:43106563 [GRCh38]
Chr10:43602011 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1504G>T (p.Val502Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297665] Chr10:43111447 [GRCh38]
Chr10:43606895 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3187+3A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297667] Chr10:43126725 [GRCh38]
Chr10:43622173 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.845T>G (p.Val282Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297674] Chr10:43105171 [GRCh38]
Chr10:43600619 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3040G>T (p.Asp1014Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297677] Chr10:43126575 [GRCh38]
Chr10:43622023 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2010C>T (p.Ser670=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297680] Chr10:43114610 [GRCh38]
Chr10:43610058 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3143T>C (p.Leu1048Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297681] Chr10:43126678 [GRCh38]
Chr10:43622126 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.973G>C (p.Ala325Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297682] Chr10:43106481 [GRCh38]
Chr10:43601929 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.853T>G (p.Phe285Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297684] Chr10:43105179 [GRCh38]
Chr10:43600627 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1263+3G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172652]|Multiple endocrine neoplasia, type 2 [RCV003779596] Chr10:43109233 [GRCh38]
Chr10:43604681 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1063A>C (p.Arg355=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172653] Chr10:43106571 [GRCh38]
Chr10:43602019 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1250G>C (p.Arg417Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172654] Chr10:43109217 [GRCh38]
Chr10:43604665 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1032C>G (p.Gly344=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172655]|Multiple endocrine neoplasia, type 2 [RCV003645941] Chr10:43106540 [GRCh38]
Chr10:43601988 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1365C>T (p.Val455=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172656] Chr10:43111308 [GRCh38]
Chr10:43606756 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1368C>T (p.Thr456=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172657] Chr10:43111311 [GRCh38]
Chr10:43606759 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.510A>G (p.Thr170=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172658] Chr10:43102514 [GRCh38]
Chr10:43597962 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1334C>G (p.Ser445Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172659]|Multiple endocrine neoplasia, type 2 [RCV003779597] Chr10:43111277 [GRCh38]
Chr10:43606725 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2529G>A (p.Glu843=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172660]|Multiple endocrine neoplasia, type 2 [RCV003645942] Chr10:43119667 [GRCh38]
Chr10:43615115 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.264C>T (p.Ile88=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172662] Chr10:43100649 [GRCh38]
Chr10:43596097 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2007C>T (p.Ile669=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172663] Chr10:43114607 [GRCh38]
Chr10:43610055 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1874T>C (p.Ile625Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172664]|Multiple endocrine neoplasia, type 2 [RCV003645943] Chr10:43113670 [GRCh38]
Chr10:43609118 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1269G>A (p.Gly423=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172665]|Multiple endocrine neoplasia, type 2 [RCV003645944] Chr10:43111212 [GRCh38]
Chr10:43606660 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.44TGC[2] (p.Leu17_Leu19del) microsatellite Hereditary cancer-predisposing syndrome [RCV003172666] Chr10:43077302..43077310 [GRCh38]
Chr10:43572750..43572758 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3096C>T (p.Gly1032=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172667]|Multiple endocrine neoplasia, type 2 [RCV003779598] Chr10:43126631 [GRCh38]
Chr10:43622079 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2047T>G (p.Phe683Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172668] Chr10:43114647 [GRCh38]
Chr10:43610095 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1371A>G (p.Ser457=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172675] Chr10:43111314 [GRCh38]
Chr10:43606762 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.704A>C (p.Glu235Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172676] Chr10:43105030 [GRCh38]
Chr10:43600478 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2781C>T (p.Ile927=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172677]|Multiple endocrine neoplasia, type 2 [RCV003779600] Chr10:43121996 [GRCh38]
Chr10:43617444 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1477T>G (p.Ser493Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172678]|Multiple endocrine neoplasia, type 2 [RCV003779601] Chr10:43111420 [GRCh38]
Chr10:43606868 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1393C>T (p.Leu465=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172679] Chr10:43111336 [GRCh38]
Chr10:43606784 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.717G>A (p.Leu239=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172683]|Multiple endocrine neoplasia, type 2 [RCV003645945] Chr10:43105043 [GRCh38]
Chr10:43600491 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1336G>A (p.Gly446Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176491] Chr10:43111279 [GRCh38]
Chr10:43606727 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.229C>G (p.Arg77Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176492] Chr10:43100614 [GRCh38]
Chr10:43596062 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.923G>T (p.Gly308Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003216327] Chr10:43106431 [GRCh38]
Chr10:43601879 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1251C>G (p.Arg417=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003216328] Chr10:43109218 [GRCh38]
Chr10:43604666 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1467C>T (p.Asp489=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003216325]|Multiple endocrine neoplasia, type 2 [RCV003533824] Chr10:43111410 [GRCh38]
Chr10:43606858 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3288T>C (p.Tyr1096=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003216321]|Multiple endocrine neoplasia, type 2 [RCV003645947] Chr10:43128212 [GRCh38]
Chr10:43623660 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.999C>T (p.His333=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003216320] Chr10:43106507 [GRCh38]
Chr10:43601955 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3163A>T (p.Thr1055Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003216319] Chr10:43126698 [GRCh38]
Chr10:43622146 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1894G>C (p.Glu632Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003216318] Chr10:43114494 [GRCh38]
Chr10:43609942 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2263G>T (p.Val755Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165293] Chr10:43116710 [GRCh38]
Chr10:43612158 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2304G>A (p.Glu768=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172684] Chr10:43118392 [GRCh38]
Chr10:43613840 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2841A>C (p.Leu947=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172687] Chr10:43123710 [GRCh38]
Chr10:43619158 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2_7dup (p.Ala2_Lys3insMetAla) duplication Hereditary cancer-predisposing syndrome [RCV003176489] Chr10:43077254..43077255 [GRCh38]
Chr10:43572702..43572703 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1182C>G (p.Asn394Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165292] Chr10:43109149 [GRCh38]
Chr10:43604597 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.585C>T (p.Phe195=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003216324] Chr10:43102589 [GRCh38]
Chr10:43598037 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3128G>A (p.Cys1043Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003216322] Chr10:43126663 [GRCh38]
Chr10:43622111 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2137-166G>A single nucleotide variant not provided [RCV003222670] Chr10:43116418 [GRCh38]
Chr10:43611866 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.499T>G (p.Phe167Val) single nucleotide variant not provided [RCV003214167] Chr10:43102503 [GRCh38]
Chr10:43597951 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2611G>C (p.Val871Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172651] Chr10:43120084 [GRCh38]
Chr10:43615532 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.525_530dup (p.Arg177_Glu178insIleArg) duplication Hereditary cancer-predisposing syndrome [RCV003172671]|Multiple endocrine neoplasia, type 2 [RCV003779599] Chr10:43102526..43102527 [GRCh38]
Chr10:43597974..43597975 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1195C>T (p.Pro399Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172672] Chr10:43109162 [GRCh38]
Chr10:43604610 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2414A>G (p.Glu805Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172673] Chr10:43119552 [GRCh38]
Chr10:43615000 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1212G>A (p.Leu404=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172674] Chr10:43109179 [GRCh38]
Chr10:43604627 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2414A>C (p.Glu805Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172680]|Multiple endocrine neoplasia, type 2 [RCV003533821] Chr10:43119552 [GRCh38]
Chr10:43615000 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2853C>G (p.Pro951=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172681] Chr10:43123722 [GRCh38]
Chr10:43619170 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1518G>A (p.Gly506=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172685] Chr10:43111461 [GRCh38]
Chr10:43606909 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2052G>T (p.Pro684=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172686] Chr10:43114652 [GRCh38]
Chr10:43610100 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.454A>G (p.Thr152Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172688]|Multiple endocrine neoplasia, type 2 [RCV003779602] Chr10:43102458 [GRCh38]
Chr10:43597906 [GRCh37]
Chr10:10q11.21
likely benign|uncertain significance
NM_020975.6(RET):c.545C>T (p.Pro182Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283599] Chr10:43102549 [GRCh38]
Chr10:43597997 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.562T>G (p.Phe188Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283604] Chr10:43102566 [GRCh38]
Chr10:43598014 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.640T>G (p.Phe214Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283605] Chr10:43104966 [GRCh38]
Chr10:43600414 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1104C>T (p.Arg368=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283609] Chr10:43109071 [GRCh38]
Chr10:43604519 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1760G>A (p.Arg587Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283612] Chr10:43113556 [GRCh38]
Chr10:43609004 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1456G>C (p.Val486Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283620] Chr10:43111399 [GRCh38]
Chr10:43606847 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2730+4C>T single nucleotide variant not provided [RCV003227404] Chr10:43120207 [GRCh38]
Chr10:43615655 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2137-251A>G single nucleotide variant not provided [RCV003222669] Chr10:43116333 [GRCh38]
Chr10:43611781 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2002C>T (p.Pro668Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003216326] Chr10:43114602 [GRCh38]
Chr10:43610050 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2456G>A (p.Ser819Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003216323]|Multiple endocrine neoplasia, type 2 [RCV003645948] Chr10:43119594 [GRCh38]
Chr10:43615042 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1759+6C>T single nucleotide variant not provided [RCV003218899] Chr10:43112969 [GRCh38]
Chr10:43608417 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.214C>T (p.Leu72Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176493] Chr10:43100599 [GRCh38]
Chr10:43596047 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3190A>T (p.Met1064Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172650] Chr10:43128114 [GRCh38]
Chr10:43623562 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2895G>T (p.Lys965Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172669] Chr10:43123764 [GRCh38]
Chr10:43619212 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3312A>C (p.Ser1104=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172670] Chr10:43128236 [GRCh38]
Chr10:43623684 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1971C>T (p.Ile657=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172682] Chr10:43114571 [GRCh38]
Chr10:43610019 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.698A>G (p.Gln233Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165291] Chr10:43105024 [GRCh38]
Chr10:43600472 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.488G>T (p.Arg163Leu) single nucleotide variant not provided [RCV003319646] Chr10:43102492 [GRCh38]
Chr10:43597940 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2940-26A>C single nucleotide variant not provided [RCV003322169] Chr10:43124857 [GRCh38]
Chr10:43620305 [GRCh37]
Chr10:10q11.21
uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
NM_020975.6(RET):c.2393-29C>T single nucleotide variant not specified [RCV003322567] Chr10:43119502 [GRCh38]
Chr10:43614950 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.337+20A>C single nucleotide variant not specified [RCV003322564] Chr10:43100742 [GRCh38]
Chr10:43596190 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2260A>C (p.Thr754Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283607] Chr10:43116707 [GRCh38]
Chr10:43612155 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2597C>G (p.Ala866Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283608] Chr10:43119735 [GRCh38]
Chr10:43615183 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2832C>A (p.Ile944=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283615] Chr10:43123701 [GRCh38]
Chr10:43619149 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.21T>C (p.Gly7=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283617] Chr10:43077279 [GRCh38]
Chr10:43572727 [GRCh37]
Chr10:10q11.21
likely benign
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
NM_020975.6(RET):c.2776C>A (p.His926Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003305358] Chr10:43121991 [GRCh38]
Chr10:43617439 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.104C>G (p.Ala35Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003305361] Chr10:43100489 [GRCh38]
Chr10:43595937 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1824C>A (p.Thr608=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003305365]|Multiple endocrine neoplasia, type 2 [RCV003645952] Chr10:43113620 [GRCh38]
Chr10:43609068 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2895G>A (p.Lys965=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003305366]|Multiple endocrine neoplasia, type 2 [RCV003645953] Chr10:43123764 [GRCh38]
Chr10:43619212 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2765C>G (p.Ser922Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003305369] Chr10:43121980 [GRCh38]
Chr10:43617428 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1264-43C>T single nucleotide variant not specified [RCV003322565] Chr10:43111164 [GRCh38]
Chr10:43606612 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1522+20A>T single nucleotide variant not specified [RCV003322566] Chr10:43111485 [GRCh38]
Chr10:43606933 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1267G>T (p.Gly423Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358163]|Multiple endocrine neoplasia, type 2a [RCV003325287] Chr10:43111210 [GRCh38]
Chr10:43606658 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.971G>A (p.Trp324Ter) single nucleotide variant RET-related disorders [RCV003335957] Chr10:43106479 [GRCh38]
Chr10:43601927 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1031G>A (p.Gly344Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003361048] Chr10:43106539 [GRCh38]
Chr10:43601987 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1426C>T (p.Pro476Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003361050] Chr10:43111369 [GRCh38]
Chr10:43606817 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2125T>A (p.Phe709Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003361051]|Multiple endocrine neoplasia, type 2 [RCV003533851] Chr10:43114725 [GRCh38]
Chr10:43610173 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1533G>A (p.Glu511=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003361052] Chr10:43112109 [GRCh38]
Chr10:43607557 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2041C>T (p.Gln681Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003361060] Chr10:43114641 [GRCh38]
Chr10:43610089 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.260G>A (p.Cys87Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003361061] Chr10:43100645 [GRCh38]
Chr10:43596093 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.824G>T (p.Gly275Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003381018] Chr10:43105150 [GRCh38]
Chr10:43600598 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2115C>A (p.Ser705=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003361054] Chr10:43114715 [GRCh38]
Chr10:43610163 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2388G>T (p.Gln796His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003361049]|Multiple endocrine neoplasia, type 2 [RCV003533850] Chr10:43118476 [GRCh38]
Chr10:43613924 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2974C>G (p.Pro992Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003361053] Chr10:43124917 [GRCh38]
Chr10:43620365 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.241C>G (p.His81Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003361056] Chr10:43100626 [GRCh38]
Chr10:43596074 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2981A>G (p.Lys994Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003361057] Chr10:43124924 [GRCh38]
Chr10:43620372 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.977A>C (p.Gln326Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003361058] Chr10:43106485 [GRCh38]
Chr10:43601933 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1083C>T (p.Asn361=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003361059] Chr10:43109050 [GRCh38]
Chr10:43604498 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1718T>C (p.Val573Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003376779] Chr10:43112922 [GRCh38]
Chr10:43608370 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1886T>G (p.Leu629Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003376858]|Multiple endocrine neoplasia, type 2 [RCV003533853] Chr10:43114486 [GRCh38]
Chr10:43609934 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3299T>C (p.Met1100Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003376906]|Multiple endocrine neoplasia, type 2 [RCV003645957] Chr10:43128223 [GRCh38]
Chr10:43623671 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1258G>T (p.Ala420Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003376975] Chr10:43109225 [GRCh38]
Chr10:43604673 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.397C>G (p.Arg133Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003350827] Chr10:43102401 [GRCh38]
Chr10:43597849 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.208C>A (p.Gln70Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003350828] Chr10:43100593 [GRCh38]
Chr10:43596041 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1287C>T (p.Asn429=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003350821] Chr10:43111230 [GRCh38]
Chr10:43606678 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.652C>G (p.Pro218Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003350822]|Multiple endocrine neoplasia, type 2 [RCV003533849] Chr10:43104978 [GRCh38]
Chr10:43600426 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.510A>T (p.Thr170=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003350823] Chr10:43102514 [GRCh38]
Chr10:43597962 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.503C>A (p.Pro168Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003350824] Chr10:43102507 [GRCh38]
Chr10:43597955 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3309C>T (p.Pro1103=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003350825] Chr10:43128233 [GRCh38]
Chr10:43623681 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1550T>C (p.Leu517Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003350826] Chr10:43112126 [GRCh38]
Chr10:43607574 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3257G>C (p.Gly1086Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003350829] Chr10:43128181 [GRCh38]
Chr10:43623629 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1363G>C (p.Val455Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003350830] Chr10:43111306 [GRCh38]
Chr10:43606754 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.764T>C (p.Met255Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003386323]|Multiple endocrine neoplasia, type 2 [RCV003778068] Chr10:43105090 [GRCh38]
Chr10:43600538 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3020A>T (p.Lys1007Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377693] Chr10:43124963 [GRCh38]
Chr10:43620411 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2331C>A (p.Asn777Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377694] Chr10:43118419 [GRCh38]
Chr10:43613867 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1214C>G (p.Pro405Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377695] Chr10:43109181 [GRCh38]
Chr10:43604629 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1291C>G (p.Gln431Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377696] Chr10:43111234 [GRCh38]
Chr10:43606682 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.379C>A (p.Leu127Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377697]|Multiple endocrine neoplasia, type 2 [RCV003533854] Chr10:43102383 [GRCh38]
Chr10:43597831 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3047T>C (p.Leu1016Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377698] Chr10:43126582 [GRCh38]
Chr10:43622030 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.349C>G (p.Pro117Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377977]|Multiple endocrine neoplasia, type 2 [RCV003533848] Chr10:43102353 [GRCh38]
Chr10:43597801 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.958C>A (p.Pro320Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003376938] Chr10:43106466 [GRCh38]
Chr10:43601914 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2120A>G (p.Asp707Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003873115] Chr10:43114720 [GRCh38]
Chr10:43610168 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1303G>A (p.Gly435Ser) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV003463507]|Multiple endocrine neoplasia, type 2 [RCV003645964] Chr10:43111246 [GRCh38]
Chr10:43606694 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1289G>T (p.Cys430Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003875136] Chr10:43111232 [GRCh38]
Chr10:43606680 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.341G>T (p.Arg114Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003875481] Chr10:43102345 [GRCh38]
Chr10:43597793 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.338-7T>G single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV003494519] Chr10:43102335 [GRCh38]
Chr10:43597783 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2853del (p.Tyr952fs) deletion RET-related condition [RCV003391420] Chr10:43123719 [GRCh38]
Chr10:43619167 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.2693A>T (p.Asp898Val) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV003463508] Chr10:43120166 [GRCh38]
Chr10:43615614 [GRCh37]
Chr10:10q11.21
uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2
pathogenic
NM_020975.6(RET):c.2870C>G (p.Pro957Arg) single nucleotide variant RET-related condition [RCV003400443] Chr10:43123739 [GRCh38]
Chr10:43619187 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2578_2579del (p.Gln860fs) microsatellite RET-related condition [RCV003402277] Chr10:43119714..43119715 [GRCh38]
Chr10:43615162..43615163 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.712G>C (p.Glu238Gln) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV003463505] Chr10:43105038 [GRCh38]
Chr10:43600486 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.737A>T (p.His246Leu) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV003463506] Chr10:43105063 [GRCh38]
Chr10:43600511 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2939+5G>A single nucleotide variant RET-related condition [RCV003406039] Chr10:43123813 [GRCh38]
Chr10:43619261 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.463C>T (p.Pro155Ser) single nucleotide variant RET-related condition [RCV003404331] Chr10:43102467 [GRCh38]
Chr10:43597915 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.208C>T (p.Gln70Ter) single nucleotide variant RET-related condition [RCV003412252] Chr10:43100593 [GRCh38]
Chr10:43596041 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.903_905dup (p.Ala301_Asp302insGlu) duplication RET-related condition [RCV003412332] Chr10:43106410..43106411 [GRCh38]
Chr10:43601858..43601859 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.983C>T (p.Thr328Ile) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV003463504] Chr10:43106491 [GRCh38]
Chr10:43601939 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3004A>G (p.Ser1002Gly) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV003463509] Chr10:43124947 [GRCh38]
Chr10:43620395 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2731-2A>G single nucleotide variant RET-related condition [RCV003402754] Chr10:43121944 [GRCh38]
Chr10:43617392 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.2140G>A (p.Asp714Asn) single nucleotide variant RET-related condition [RCV003410479] Chr10:43116587 [GRCh38]
Chr10:43612035 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2994T>G (p.Phe998Leu) single nucleotide variant RET-related condition [RCV003402538] Chr10:43124937 [GRCh38]
Chr10:43620385 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.664G>T (p.Glu222Ter) single nucleotide variant RET-related condition [RCV003400283] Chr10:43104990 [GRCh38]
Chr10:43600438 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.1879+355G>A single nucleotide variant not provided [RCV003417328] Chr10:43114030 [GRCh38]
Chr10:43609478 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2136+151G>A single nucleotide variant not provided [RCV003417329] Chr10:43114887 [GRCh38]
Chr10:43610335 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2136+509G>T single nucleotide variant not provided [RCV003417330] Chr10:43115245 [GRCh38]
Chr10:43610693 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2136+763G>A single nucleotide variant not provided [RCV003417331] Chr10:43115499 [GRCh38]
Chr10:43610947 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2450G>T (p.Arg817Leu) single nucleotide variant not provided [RCV003417332] Chr10:43119588 [GRCh38]
Chr10:43615036 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.*500C>T single nucleotide variant not provided [RCV003417333] Chr10:43128769 [GRCh38]
Chr10:43624217 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.169C>G (p.Arg57Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646271] Chr10:43100554 [GRCh38]
Chr10:43596002 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1347C>A (p.Cys449Ter) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646334] Chr10:43111290 [GRCh38]
Chr10:43606738 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1064-12C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646717] Chr10:43109019 [GRCh38]
Chr10:43604467 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2801+12T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646769] Chr10:43122028 [GRCh38]
Chr10:43617476 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1263+12C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647008] Chr10:43109242 [GRCh38]
Chr10:43604690 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.339C>A (p.Asn113Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646951] Chr10:43102343 [GRCh38]
Chr10:43597791 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1879+7G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647069] Chr10:43113682 [GRCh38]
Chr10:43609130 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1880-11C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647138] Chr10:43114469 [GRCh38]
Chr10:43609917 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.834C>A (p.Thr278=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647162] Chr10:43105160 [GRCh38]
Chr10:43600608 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.189G>A (p.Val63=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647179] Chr10:43100574 [GRCh38]
Chr10:43596022 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1507A>G (p.Thr503Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647186] Chr10:43111450 [GRCh38]
Chr10:43606898 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2522C>A (p.Pro841Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647206] Chr10:43119660 [GRCh38]
Chr10:43615108 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1206G>A (p.Leu402=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003645995] Chr10:43109173 [GRCh38]
Chr10:43604621 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+16C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647051] Chr10:43077347 [GRCh38]
Chr10:43572795 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+16C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647192] Chr10:43077347 [GRCh38]
Chr10:43572795 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.867+18C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646150] Chr10:43105211 [GRCh38]
Chr10:43600659 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.181G>A (p.Glu61Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647194] Chr10:43100566 [GRCh38]
Chr10:43596014 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1482G>A (p.Arg494=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646164] Chr10:43111425 [GRCh38]
Chr10:43606873 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3157C>T (p.Pro1053Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646207] Chr10:43126692 [GRCh38]
Chr10:43622140 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.958C>G (p.Pro320Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646156] Chr10:43106466 [GRCh38]
Chr10:43601914 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3188-19G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646695] Chr10:43128093 [GRCh38]
Chr10:43623541 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1264-20G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646693] Chr10:43111187 [GRCh38]
Chr10:43606635 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1759+17C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646086] Chr10:43112980 [GRCh38]
Chr10:43608428 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2509T>G (p.Ser837Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646768] Chr10:43119647 [GRCh38]
Chr10:43615095 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1875C>G (p.Ile625Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003881784] Chr10:43113671 [GRCh38]
Chr10:43609119 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1948G>A (p.Val650Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646222] Chr10:43114548 [GRCh38]
Chr10:43609996 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2788A>G (p.Thr930Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646257] Chr10:43122003 [GRCh38]
Chr10:43617451 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.769C>T (p.Pro257Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646274] Chr10:43105095 [GRCh38]
Chr10:43600543 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2392+20G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646834] Chr10:43118500 [GRCh38]
Chr10:43613948 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.74-17T>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646850] Chr10:43100442 [GRCh38]
Chr10:43595890 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3303T>G (p.Leu1101=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003876981] Chr10:43128227 [GRCh38]
Chr10:43623675 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1755C>T (p.Cys585=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646247] Chr10:43112959 [GRCh38]
Chr10:43608407 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2875C>G (p.Arg959Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646892] Chr10:43123744 [GRCh38]
Chr10:43619192 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2578C>G (p.Gln860Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646897] Chr10:43119716 [GRCh38]
Chr10:43615164 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1430A>C (p.Lys477Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646331] Chr10:43111373 [GRCh38]
Chr10:43606821 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2517C>G (p.Asp839Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646337] Chr10:43119655 [GRCh38]
Chr10:43615103 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3132T>G (p.Asn1044Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646936] Chr10:43126667 [GRCh38]
Chr10:43622115 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2898C>G (p.Thr966=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646994] Chr10:43123767 [GRCh38]
Chr10:43619215 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.902C>T (p.Ala301Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646388] Chr10:43106410 [GRCh38]
Chr10:43601858 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1097A>T (p.Glu366Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646416] Chr10:43109064 [GRCh38]
Chr10:43604512 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3173A>C (p.Glu1058Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646961] Chr10:43126708 [GRCh38]
Chr10:43622156 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2648C>T (p.Ala883Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646957] Chr10:43120121 [GRCh38]
Chr10:43615569 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2859T>G (p.Pro953=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646527] Chr10:43123728 [GRCh38]
Chr10:43619176 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.350C>T (p.Pro117Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646571] Chr10:43102354 [GRCh38]
Chr10:43597802 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.5C>A (p.Ala2Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647159] Chr10:43077263 [GRCh38]
Chr10:43572711 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2608-9del deletion Multiple endocrine neoplasia, type 2 [RCV003647165] Chr10:43120068 [GRCh38]
Chr10:43615516 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1649-14T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646591] Chr10:43112839 [GRCh38]
Chr10:43608287 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1011G>A (p.Glu337=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647178] Chr10:43106519 [GRCh38]
Chr10:43601967 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2496C>T (p.Ser832=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003645987] Chr10:43119634 [GRCh38]
Chr10:43615082 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1899_1900delinsTC (p.Cys634Arg) indel Multiple endocrine neoplasia, type 2 [RCV003645988] Chr10:43114499..43114500 [GRCh38]
Chr10:43609947..43609948 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.734T>G (p.Val245Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003645989] Chr10:43105060 [GRCh38]
Chr10:43600508 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3223G>C (p.Val1075Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646002] Chr10:43128147 [GRCh38]
Chr10:43623595 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1523-19G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646660] Chr10:43112080 [GRCh38]
Chr10:43607528 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1280T>C (p.Val427Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646719] Chr10:43111223 [GRCh38]
Chr10:43606671 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2932G>C (p.Glu978Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646129] Chr10:43123801 [GRCh38]
Chr10:43619249 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.77C>T (p.Ala26Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003876184] Chr10:43100462 [GRCh38]
Chr10:43595910 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.261C>T (p.Cys87=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647149] Chr10:43100646 [GRCh38]
Chr10:43596094 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2239A>C (p.Lys747Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646574] Chr10:43116686 [GRCh38]
Chr10:43612134 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1759+16T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646578] Chr10:43112979 [GRCh38]
Chr10:43608427 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1933T>C (p.Ser645Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646579] Chr10:43114533 [GRCh38]
Chr10:43609981 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3183C>T (p.Leu1061=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646584] Chr10:43126718 [GRCh38]
Chr10:43622166 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.443_445del (p.Ser148del) deletion Multiple endocrine neoplasia, type 2 [RCV003647182]|RET-related condition [RCV003929340] Chr10:43102445..43102447 [GRCh38]
Chr10:43597893..43597895 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3039+11_3039+12delinsTC indel Multiple endocrine neoplasia, type 2 [RCV003646597] Chr10:43124993..43124994 [GRCh38]
Chr10:43620441..43620442 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.336C>A (p.Arg112=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646602] Chr10:43100721 [GRCh38]
Chr10:43596169 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3018G>C (p.Glu1006Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646623] Chr10:43124961 [GRCh38]
Chr10:43620409 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.73+9dup duplication Multiple endocrine neoplasia, type 2 [RCV003647216] Chr10:43077339..43077340 [GRCh38]
Chr10:43572787..43572788 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1064-9delinsGG indel Multiple endocrine neoplasia, type 2 [RCV003645968] Chr10:43109022 [GRCh38]
Chr10:43604470 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2137-8C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003645978] Chr10:43116576 [GRCh38]
Chr10:43612024 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.749G>T (p.Arg250Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003645980] Chr10:43105075 [GRCh38]
Chr10:43600523 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3187+1G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003645985] Chr10:43126723 [GRCh38]
Chr10:43622171 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2940-20C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003645986] Chr10:43124863 [GRCh38]
Chr10:43620311 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3214G>C (p.Glu1072Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646003] Chr10:43128138 [GRCh38]
Chr10:43623586 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2608-10T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646010] Chr10:43120071 [GRCh38]
Chr10:43615519 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.34C>T (p.Arg12Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646040] Chr10:43077292 [GRCh38]
Chr10:43572740 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1361T>C (p.Val454Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646672] Chr10:43111304 [GRCh38]
Chr10:43606752 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.593C>T (p.Pro198Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646114] Chr10:43102597 [GRCh38]
Chr10:43598045 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3058G>C (p.Ala1020Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646746] Chr10:43126593 [GRCh38]
Chr10:43622041 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2313C>T (p.Asp771=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646696] Chr10:43118401 [GRCh38]
Chr10:43613849 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1649-20C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646691] Chr10:43112833 [GRCh38]
Chr10:43608281 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1091_1104del (p.Ile364fs) deletion Multiple endocrine neoplasia, type 2 [RCV003646748] Chr10:43109058..43109071 [GRCh38]
Chr10:43604506..43604519 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.43_48dup (p.Leu19_Pro20insLeuLeu) duplication Multiple endocrine neoplasia, type 2 [RCV003882073] Chr10:43077295..43077296 [GRCh38]
Chr10:43572743..43572744 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1064-13C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646154] Chr10:43109018 [GRCh38]
Chr10:43604466 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1483C>A (p.Gln495Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646215] Chr10:43111426 [GRCh38]
Chr10:43606874 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.269A>G (p.Glu90Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646221] Chr10:43100654 [GRCh38]
Chr10:43596102 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1323G>A (p.Lys441=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646226] Chr10:43111266 [GRCh38]
Chr10:43606714 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2939+4_2939+5del deletion Multiple endocrine neoplasia, type 2 [RCV003646232] Chr10:43123811..43123812 [GRCh38]
Chr10:43619259..43619260 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.262A>C (p.Ile88Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646258] Chr10:43100647 [GRCh38]
Chr10:43596095 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2607+20C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646263] Chr10:43119765 [GRCh38]
Chr10:43615213 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1517G>A (p.Gly506Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646268] Chr10:43111460 [GRCh38]
Chr10:43606908 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2392+13G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646844] Chr10:43118493 [GRCh38]
Chr10:43613941 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.505G>C (p.Glu169Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646303] Chr10:43102509 [GRCh38]
Chr10:43597957 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1160del (p.Gly387fs) deletion Multiple endocrine neoplasia, type 2 [RCV003646305] Chr10:43109125 [GRCh38]
Chr10:43604573 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.2801+15T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646318] Chr10:43122031 [GRCh38]
Chr10:43617479 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2730+7A>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646857] Chr10:43120210 [GRCh38]
Chr10:43615658 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1738A>C (p.Ile580Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646243] Chr10:43112942 [GRCh38]
Chr10:43608390 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2393-20C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646327] Chr10:43119511 [GRCh38]
Chr10:43614959 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1170G>C (p.Leu390Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646867] Chr10:43109137 [GRCh38]
Chr10:43604585 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1879+17C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646405] Chr10:43113692 [GRCh38]
Chr10:43609140 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1961C>T (p.Ala654Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647012] Chr10:43114561 [GRCh38]
Chr10:43610009 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2211A>C (p.Lys737Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003828067] Chr10:43116658 [GRCh38]
Chr10:43612106 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2194G>A (p.Glu732Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646420] Chr10:43116641 [GRCh38]
Chr10:43612089 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.549C>G (p.Gly183=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646297] Chr10:43102553 [GRCh38]
Chr10:43598001 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2284+17G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646963] Chr10:43116748 [GRCh38]
Chr10:43612196 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2393-12C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646962] Chr10:43119519 [GRCh38]
Chr10:43614967 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1063+6del deletion Multiple endocrine neoplasia, type 2 [RCV003646238] Chr10:43106577 [GRCh38]
Chr10:43602025 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2822T>C (p.Leu941Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646351] Chr10:43123691 [GRCh38]
Chr10:43619139 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.635T>C (p.Leu212Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646615] Chr10:43104961 [GRCh38]
Chr10:43600409 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1522+16A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646461] Chr10:43111481 [GRCh38]
Chr10:43606929 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2472T>C (p.Pro824=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647031] Chr10:43119610 [GRCh38]
Chr10:43615058 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1226C>G (p.Ser409Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646393] Chr10:43109193 [GRCh38]
Chr10:43604641 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2955G>A (p.Leu985=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646455] Chr10:43124898 [GRCh38]
Chr10:43620346 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1007A>G (p.Asn336Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646663] Chr10:43106515 [GRCh38]
Chr10:43601963 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1527G>T (p.Val509=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646674] Chr10:43112103 [GRCh38]
Chr10:43607551 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.429C>T (p.Ala143=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647095] Chr10:43102433 [GRCh38]
Chr10:43597881 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3182T>A (p.Leu1061His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647116] Chr10:43126717 [GRCh38]
Chr10:43622165 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2143C>G (p.Pro715Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646442] Chr10:43116590 [GRCh38]
Chr10:43612038 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.702G>T (p.Arg234=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646724] Chr10:43105028 [GRCh38]
Chr10:43600476 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2285-14G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647119] Chr10:43118359 [GRCh38]
Chr10:43613807 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2369T>C (p.Leu790Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646532] Chr10:43118457 [GRCh38]
Chr10:43613905 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3185A>C (p.Tyr1062Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003878481] Chr10:43126720 [GRCh38]
Chr10:43622168 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2607+12T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646698] Chr10:43119757 [GRCh38]
Chr10:43615205 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2573T>C (p.Ile858Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646756] Chr10:43119711 [GRCh38]
Chr10:43615159 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1028A>G (p.Asn343Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647061] Chr10:43106536 [GRCh38]
Chr10:43601984 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.675_676delinsTT (p.Arg226Cys) indel Multiple endocrine neoplasia, type 2 [RCV003646462] Chr10:43105001..43105002 [GRCh38]
Chr10:43600449..43600450 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.749G>A (p.Arg250His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646774] Chr10:43105075 [GRCh38]
Chr10:43600523 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3133A>T (p.Asn1045Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646783] Chr10:43126668 [GRCh38]
Chr10:43622116 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3322T>C (p.Leu1108=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003647198] Chr10:43128246 [GRCh38]
Chr10:43623694 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.867+17G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646798] Chr10:43105210 [GRCh38]
Chr10:43600658 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1578G>A (p.Leu526=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003645981] Chr10:43112154 [GRCh38]
Chr10:43607602 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1733T>A (p.Ile578Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646022] Chr10:43112937 [GRCh38]
Chr10:43608385 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.867+19T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646024] Chr10:43105212 [GRCh38]
Chr10:43600660 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3187+13A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646037] Chr10:43126735 [GRCh38]
Chr10:43622183 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.74-18C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646039] Chr10:43100441 [GRCh38]
Chr10:43595889 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.338-10C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646072] Chr10:43102332 [GRCh38]
Chr10:43597780 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3033G>A (p.Lys1011=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646065] Chr10:43124976 [GRCh38]
Chr10:43620424 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.336C>T (p.Arg112=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646906] Chr10:43100721 [GRCh38]
Chr10:43596169 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.867+6T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003877334] Chr10:43105199 [GRCh38]
Chr10:43600647 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.773T>A (p.Phe258Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646153] Chr10:43105099 [GRCh38]
Chr10:43600547 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3266G>A (p.Arg1089Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646097] Chr10:43128190 [GRCh38]
Chr10:43623638 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3282T>C (p.Ser1094=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646925] Chr10:43128206 [GRCh38]
Chr10:43623654 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2392+17G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646091] Chr10:43118497 [GRCh38]
Chr10:43613945 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1064-8A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646080] Chr10:43109023 [GRCh38]
Chr10:43604471 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+15C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646304] Chr10:43077346 [GRCh38]
Chr10:43572794 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.759G>A (p.Val253=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646239] Chr10:43105085 [GRCh38]
Chr10:43600533 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1880-13C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646869] Chr10:43114467 [GRCh38]
Chr10:43609915 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.868-9A>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646866] Chr10:43106367 [GRCh38]
Chr10:43601815 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.505G>A (p.Glu169Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646201] Chr10:43102509 [GRCh38]
Chr10:43597957 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.73+3G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646231] Chr10:43077334 [GRCh38]
Chr10:43572782 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2393-6C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003646345] Chr10:43119525 [GRCh38]
Chr10:43614973 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.907G>C (p.Val303Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532377] Chr10:43106415 [GRCh38]
Chr10:43601863 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.108C>T (p.Tyr36=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533999] Chr10:43100493 [GRCh38]
Chr10:43595941 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2392+14C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534019] Chr10:43118494 [GRCh38]
Chr10:43613942 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1063+6_1063+7del microsatellite Multiple endocrine neoplasia, type 2 [RCV003534059] Chr10:43106575..43106576 [GRCh38]
Chr10:43602023..43602024 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1264-9C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534077] Chr10:43111198 [GRCh38]
Chr10:43606646 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1218T>C (p.Ser406=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532418] Chr10:43109185 [GRCh38]
Chr10:43604633 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1240_1251del (p.Arg415_Arg418del) deletion Multiple endocrine neoplasia, type 2 [RCV003534053] Chr10:43109205..43109216 [GRCh38]
Chr10:43604653..43604664 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.503C>T (p.Pro168Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534139] Chr10:43102507 [GRCh38]
Chr10:43597955 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1052T>C (p.Val351Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532395] Chr10:43106560 [GRCh38]
Chr10:43602008 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2019G>A (p.Glu673=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534081] Chr10:43114619 [GRCh38]
Chr10:43610067 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1606_1617del (p.Ser536_Gly539del) deletion Multiple endocrine neoplasia, type 2 [RCV003532463] Chr10:43112179..43112190 [GRCh38]
Chr10:43607627..43607638 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1747C>A (p.Gln583Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532542] Chr10:43112951 [GRCh38]
Chr10:43608399 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1698del (p.Asp567fs) deletion Multiple endocrine neoplasia, type 2 [RCV003532511] Chr10:43112899 [GRCh38]
Chr10:43608347 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.868-13C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534158] Chr10:43106363 [GRCh38]
Chr10:43601811 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2056A>G (p.Ser686Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532494] Chr10:43114656 [GRCh38]
Chr10:43610104 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.541C>T (p.Pro181Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532513] Chr10:43102545 [GRCh38]
Chr10:43597993 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1063+6A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532537] Chr10:43106577 [GRCh38]
Chr10:43602025 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.435A>G (p.Val145=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534194] Chr10:43102439 [GRCh38]
Chr10:43597887 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2791C>A (p.Gln931Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534244] Chr10:43122006 [GRCh38]
Chr10:43617454 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2426A>C (p.Tyr809Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532472] Chr10:43119564 [GRCh38]
Chr10:43615012 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.833C>G (p.Thr278Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534196] Chr10:43105159 [GRCh38]
Chr10:43600607 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.647G>A (p.Cys216Tyr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003833216] Chr10:43104973 [GRCh38]
Chr10:43600421 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2607+11A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531446] Chr10:43119756 [GRCh38]
Chr10:43615204 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.867+14C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531472] Chr10:43105207 [GRCh38]
Chr10:43600655 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.6G>T (p.Ala2=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531524] Chr10:43077264 [GRCh38]
Chr10:43572712 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.572T>A (p.Leu191Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531496] Chr10:43102576 [GRCh38]
Chr10:43598024 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2133C>A (p.Ile711=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531533] Chr10:43114733 [GRCh38]
Chr10:43610181 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1806T>G (p.Ile602Met) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531697] Chr10:43113602 [GRCh38]
Chr10:43609050 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1791G>A (p.Gly597=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531710] Chr10:43113587 [GRCh38]
Chr10:43609035 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.337+19C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531765] Chr10:43100741 [GRCh38]
Chr10:43596189 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2257A>C (p.Thr753Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531771] Chr10:43116704 [GRCh38]
Chr10:43612152 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2838C>G (p.Thr946=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533869] Chr10:43123707 [GRCh38]
Chr10:43619155 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3144C>G (p.Leu1048=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533882] Chr10:43126679 [GRCh38]
Chr10:43622127 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1880-12C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003835821] Chr10:43114468 [GRCh38]
Chr10:43609916 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1649-20C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531855] Chr10:43112833 [GRCh38]
Chr10:43608281 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1113G>A (p.Gln371=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533884] Chr10:43109080 [GRCh38]
Chr10:43604528 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.685C>T (p.Leu229=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531898] Chr10:43105011 [GRCh38]
Chr10:43600459 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1264-6C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533932] Chr10:43111201 [GRCh38]
Chr10:43606649 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1063+20del deletion Multiple endocrine neoplasia, type 2 [RCV003533951] Chr10:43106591 [GRCh38]
Chr10:43602039 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.507G>C (p.Glu169Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533972] Chr10:43102511 [GRCh38]
Chr10:43597959 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2647G>C (p.Ala883Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533955] Chr10:43120120 [GRCh38]
Chr10:43615568 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2137-6A>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533981] Chr10:43116578 [GRCh38]
Chr10:43612026 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.610T>A (p.Tyr204Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533991] Chr10:43102614 [GRCh38]
Chr10:43598062 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1879+11G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532447] Chr10:43113686 [GRCh38]
Chr10:43609134 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1263+8C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532466] Chr10:43109238 [GRCh38]
Chr10:43604686 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3187+15_3187+16delinsTT indel Multiple endocrine neoplasia, type 2 [RCV003532467] Chr10:43126737..43126738 [GRCh38]
Chr10:43622185..43622186 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.771C>T (p.Pro257=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534155] Chr10:43105097 [GRCh38]
Chr10:43600545 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.634C>G (p.Leu212Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534176] Chr10:43104960 [GRCh38]
Chr10:43600408 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1076A>C (p.Asn359Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531527] Chr10:43109043 [GRCh38]
Chr10:43604491 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1647A>C (p.Lys549Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531528] Chr10:43112223 [GRCh38]
Chr10:43607671 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2801+7G>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531529] Chr10:43122023 [GRCh38]
Chr10:43617471 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3310T>C (p.Ser1104Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531534] Chr10:43128234 [GRCh38]
Chr10:43623682 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1447T>C (p.Tyr483His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531536] Chr10:43111390 [GRCh38]
Chr10:43606838 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2285-20T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003832407] Chr10:43118353 [GRCh38]
Chr10:43613801 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2939+10dup duplication Multiple endocrine neoplasia, type 2 [RCV003534125] Chr10:43123814..43123815 [GRCh38]
Chr10:43619262..43619263 [GRCh37]
Chr10:10q11.21
benign
NM_020975.6(RET):c.817C>T (p.Pro273Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534195] Chr10:43105143 [GRCh38]
Chr10:43600591 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1763G>A (p.Gly588Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531556] Chr10:43113559 [GRCh38]
Chr10:43609007 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1760-6C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531561] Chr10:43113550 [GRCh38]
Chr10:43608998 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2136+13G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531575] Chr10:43114749 [GRCh38]
Chr10:43610197 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1671C>A (p.Thr557=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532490] Chr10:43112875 [GRCh38]
Chr10:43608323 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+15C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534119] Chr10:43077346 [GRCh38]
Chr10:43572794 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2231T>C (p.Phe744Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534234] Chr10:43116678 [GRCh38]
Chr10:43612126 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2285-16C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534114] Chr10:43118357 [GRCh38]
Chr10:43613805 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+19C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534252] Chr10:43077350 [GRCh38]
Chr10:43572798 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.28G>A (p.Gly10Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534112] Chr10:43077286 [GRCh38]
Chr10:43572734 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3281G>T (p.Ser1094Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531698] Chr10:43128205 [GRCh38]
Chr10:43623653 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.841G>A (p.Ala281Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003850519] Chr10:43105167 [GRCh38]
Chr10:43600615 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1030G>C (p.Gly344Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531769] Chr10:43106538 [GRCh38]
Chr10:43601986 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2616T>C (p.His872=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531788] Chr10:43120089 [GRCh38]
Chr10:43615537 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2756C>A (p.Ala919Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531798] Chr10:43121971 [GRCh38]
Chr10:43617419 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.867+17_867+18del deletion Multiple endocrine neoplasia, type 2 [RCV003854862] Chr10:43105210..43105211 [GRCh38]
Chr10:43600658..43600659 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3118C>G (p.Leu1040Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531843] Chr10:43126653 [GRCh38]
Chr10:43622101 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2802-19_2802-18insC insertion Multiple endocrine neoplasia, type 2 [RCV003531844] Chr10:43123652..43123653 [GRCh38]
Chr10:43619100..43619101 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.609C>A (p.Ala203=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533909] Chr10:43102613 [GRCh38]
Chr10:43598061 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.367C>A (p.Leu123Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531876] Chr10:43102371 [GRCh38]
Chr10:43597819 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.255G>A (p.Trp85Ter) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533956] Chr10:43100640 [GRCh38]
Chr10:43596088 [GRCh37]
Chr10:10q11.21
pathogenic
NM_020975.6(RET):c.1879+11_1879+12dup duplication Multiple endocrine neoplasia, type 2 [RCV003533960] Chr10:43113685..43113686 [GRCh38]
Chr10:43609133..43609134 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1648+19C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003839315] Chr10:43112243 [GRCh38]
Chr10:43607691 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.867+10C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533982] Chr10:43105203 [GRCh38]
Chr10:43600651 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.186G>C (p.Glu62Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533984] Chr10:43100571 [GRCh38]
Chr10:43596019 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3106G>C (p.Glu1036Gln) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533994] Chr10:43126641 [GRCh38]
Chr10:43622089 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.444C>T (p.Ser148=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534004] Chr10:43102448 [GRCh38]
Chr10:43597896 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2982A>G (p.Lys994=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534029] Chr10:43124925 [GRCh38]
Chr10:43620373 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2722A>C (p.Arg908=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532392] Chr10:43120195 [GRCh38]
Chr10:43615643 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1335T>A (p.Ser445=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534068] Chr10:43111278 [GRCh38]
Chr10:43606726 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1759+12T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532397] Chr10:43112975 [GRCh38]
Chr10:43608423 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.882C>T (p.Ala294=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532431] Chr10:43106390 [GRCh38]
Chr10:43601838 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1678C>G (p.Pro560Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534087] Chr10:43112882 [GRCh38]
Chr10:43608330 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2802-17C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534088] Chr10:43123654 [GRCh38]
Chr10:43619102 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3133A>G (p.Asn1045Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534143] Chr10:43126668 [GRCh38]
Chr10:43622116 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1524T>C (p.Tyr508=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531467] Chr10:43112100 [GRCh38]
Chr10:43607548 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.398G>T (p.Arg133Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531519] Chr10:43102402 [GRCh38]
Chr10:43597850 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2284+18G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531665] Chr10:43116749 [GRCh38]
Chr10:43612197 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.338-17C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531728] Chr10:43102325 [GRCh38]
Chr10:43597773 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.944C>T (p.Thr315Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531803] Chr10:43106452 [GRCh38]
Chr10:43601900 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1759+7A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533883] Chr10:43112970 [GRCh38]
Chr10:43608418 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1738A>G (p.Ile580Val) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532409] Chr10:43112942 [GRCh38]
Chr10:43608390 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2377G>A (p.Ala793Thr) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534094] Chr10:43118465 [GRCh38]
Chr10:43613913 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3097C>T (p.Leu1033Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532433] Chr10:43126632 [GRCh38]
Chr10:43622080 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.624G>C (p.Glu208Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534177] Chr10:43102628 [GRCh38]
Chr10:43598076 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3040-13C>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531452] Chr10:43126562 [GRCh38]
Chr10:43622010 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.338-9T>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532435] Chr10:43102333 [GRCh38]
Chr10:43597781 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.19G>C (p.Gly7Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534166] Chr10:43077277 [GRCh38]
Chr10:43572725 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2940-9T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531523] Chr10:43124874 [GRCh38]
Chr10:43620322 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2940G>A (p.Met980Ile) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531526] Chr10:43124883 [GRCh38]
Chr10:43620331 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.625+14T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532459] Chr10:43102643 [GRCh38]
Chr10:43598091 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1087T>C (p.Ser363Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532502] Chr10:43109054 [GRCh38]
Chr10:43604502 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.958C>T (p.Pro320Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532541] Chr10:43106466 [GRCh38]
Chr10:43601914 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1882_1890dup (p.Cys630_Asp631insProLeuCys) duplication Multiple endocrine neoplasia, type 2 [RCV003534126] Chr10:43114481..43114482 [GRCh38]
Chr10:43609929..43609930 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2137-18C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534226] Chr10:43116566 [GRCh38]
Chr10:43612014 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.844G>T (p.Val282Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531554] Chr10:43105170 [GRCh38]
Chr10:43600618 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1737C>T (p.Asn579=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531646] Chr10:43112941 [GRCh38]
Chr10:43608389 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2940-18G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003850460] Chr10:43124865 [GRCh38]
Chr10:43620313 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3187+17A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531745] Chr10:43126739 [GRCh38]
Chr10:43622187 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1616G>A (p.Gly539Asp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531831] Chr10:43112192 [GRCh38]
Chr10:43607640 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2136+10C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533913] Chr10:43114746 [GRCh38]
Chr10:43610194 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.561G>T (p.Gln187His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533958] Chr10:43102565 [GRCh38]
Chr10:43598013 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.645C>A (p.Arg215=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533965] Chr10:43104971 [GRCh38]
Chr10:43600419 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3284T>A (p.Val1095Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533996] Chr10:43128208 [GRCh38]
Chr10:43623656 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2731-6C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534044] Chr10:43121940 [GRCh38]
Chr10:43617388 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2940-3C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534091] Chr10:43124880 [GRCh38]
Chr10:43620328 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1061A>G (p.Tyr354Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532451] Chr10:43106569 [GRCh38]
Chr10:43602017 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1565G>A (p.Ser522Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532462] Chr10:43112141 [GRCh38]
Chr10:43607589 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2043G>T (p.Gln681His) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532470] Chr10:43114643 [GRCh38]
Chr10:43610091 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2392+18G>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003814772] Chr10:43118498 [GRCh38]
Chr10:43613946 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2007CTC[1] (p.Ser671del) microsatellite Multiple endocrine neoplasia, type 2 [RCV003531553] Chr10:43114607..43114609 [GRCh38]
Chr10:43610055..43610057 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1193T>C (p.Leu398Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531555] Chr10:43109160 [GRCh38]
Chr10:43604608 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2385C>A (p.Ser795Arg) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531557] Chr10:43118473 [GRCh38]
Chr10:43613921 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.803C>G (p.Ser268Trp) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531581] Chr10:43105129 [GRCh38]
Chr10:43600577 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.757G>C (p.Val253Leu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532487] Chr10:43105083 [GRCh38]
Chr10:43600531 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2607+20C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003534297] Chr10:43119765 [GRCh38]
Chr10:43615213 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3169A>T (p.Ile1057Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003852402] Chr10:43126704 [GRCh38]
Chr10:43622152 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2801+19C>A single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531651] Chr10:43122035 [GRCh38]
Chr10:43617483 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.252C>G (p.Asn84Lys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531688] Chr10:43100637 [GRCh38]
Chr10:43596085 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.354G>C (p.Leu118=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531708] Chr10:43102358 [GRCh38]
Chr10:43597806 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.651C>G (p.Ala217=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531713] Chr10:43104977 [GRCh38]
Chr10:43600425 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3187+6A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003532545] Chr10:43126728 [GRCh38]
Chr10:43622176 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3168G>C (p.Trp1056Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531795] Chr10:43126703 [GRCh38]
Chr10:43622151 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.159C>G (p.Val53=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533877] Chr10:43100544 [GRCh38]
Chr10:43595992 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.919T>C (p.Ser307Pro) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003531896] Chr10:43106427 [GRCh38]
Chr10:43601875 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1294G>T (p.Ala432Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003533990] Chr10:43111237 [GRCh38]
Chr10:43606685 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2040C>T (p.Ala680=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003845241] Chr10:43114640 [GRCh38]
Chr10:43610088 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1923T>C (p.Ala641=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003865189] Chr10:43114523 [GRCh38]
Chr10:43609971 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.840C>T (p.Ser280=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003823588] Chr10:43105166 [GRCh38]
Chr10:43600614 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2699A>C (p.Tyr900Ser) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003862094] Chr10:43120172 [GRCh38]
Chr10:43615620 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1689G>C (p.Lys563Asn) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003869916] Chr10:43112893 [GRCh38]
Chr10:43608341 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1063+19A>G single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003863871] Chr10:43106590 [GRCh38]
Chr10:43602038 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.714G>A (p.Glu238=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003862627] Chr10:43105040 [GRCh38]
Chr10:43600488 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2705A>G (p.Glu902Gly) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003859173] Chr10:43120178 [GRCh38]
Chr10:43615626 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1063+10G>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003864128] Chr10:43106581 [GRCh38]
Chr10:43602029 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2608-16C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003861144] Chr10:43120065 [GRCh38]
Chr10:43615513 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1523A>T (p.Tyr508Phe) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003821871] Chr10:43112099 [GRCh38]
Chr10:43607547 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.3340A>T (p.Ser1114Cys) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003858135] Chr10:43128264 [GRCh38]
Chr10:43623712 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.338-8C>T single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003864370] Chr10:43102334 [GRCh38]
Chr10:43597782 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.559C>G (p.Gln187Glu) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003863384] Chr10:43102563 [GRCh38]
Chr10:43598011 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1105A>G (p.Thr369Ala) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003863403] Chr10:43109072 [GRCh38]
Chr10:43604520 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.2608-6T>C single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003854001] Chr10:43120075 [GRCh38]
Chr10:43615523 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2298G>T (p.Pro766=) single nucleotide variant Multiple endocrine neoplasia, type 2 [RCV003859194] Chr10:43118386 [GRCh38]
Chr10:43613834 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+9390C>T single nucleotide variant RET-related condition [RCV003899030] Chr10:43086721 [GRCh38]
Chr10:43582169 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2284+54C>T single nucleotide variant RET-related condition [RCV003914043] Chr10:43116785 [GRCh38]
Chr10:43612233 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2284+26C>T single nucleotide variant RET-related condition [RCV003962043] Chr10:43116757 [GRCh38]
Chr10:43612205 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.3187+37G>C single nucleotide variant RET-related condition [RCV003909789] Chr10:43126759 [GRCh38]
Chr10:43622207 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+9398G>A single nucleotide variant RET-related condition [RCV003966758] Chr10:43086729 [GRCh38]
Chr10:43582177 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+9408A>G single nucleotide variant RET-related condition [RCV003904753] Chr10:43086739 [GRCh38]
Chr10:43582187 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.73+9405G>A single nucleotide variant RET-related condition [RCV003952059] Chr10:43086736 [GRCh38]
Chr10:43582184 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1971_1978del (p.His658fs) deletion RET-related condition [RCV003982715] Chr10:43114570..43114577 [GRCh38]
Chr10:43610018..43610025 [GRCh37]
Chr10:10q11.21
likely pathogenic
NM_020975.6(RET):c.-23C>T single nucleotide variant RET-related condition [RCV003969775] Chr10:43077236 [GRCh38]
Chr10:43572684 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.2800G>A (p.Val934Ile) single nucleotide variant not provided [RCV003887050] Chr10:43122015 [GRCh38]
Chr10:43617463 [GRCh37]
Chr10:10q11.21
uncertain significance
NM_020975.6(RET):c.1522+30G>A single nucleotide variant RET-related condition [RCV003949247] Chr10:43111495 [GRCh38]
Chr10:43606943 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1522+42dup duplication RET-related condition [RCV003897033] Chr10:43111502..43111503 [GRCh38]
Chr10:43606950..43606951 [GRCh37]
Chr10:10q11.21
likely benign
NM_020975.6(RET):c.1522+41G>T single nucleotide variant RET-related condition [RCV003897280] Chr10:43111506 [GRCh38]
Chr10:43606954 [GRCh37]
Chr10:10q11.21
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1716
Count of miRNA genes:961
Interacting mature miRNAs:1166
Transcripts:ENST00000340058, ENST00000355710, ENST00000479913, ENST00000498820
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
G59921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371043,623,730 - 43,623,920UniSTSGRCh37
Build 361042,943,736 - 42,943,926RGDNCBI36
Celera1039,626,885 - 39,627,075RGD
Cytogenetic Map10q11.2UniSTS
HuRef1040,149,826 - 40,150,016UniSTS
TNG Radiation Hybrid Map1019921.0UniSTS
GDB:193843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371043,623,900 - 43,624,035UniSTSGRCh37
Build 361042,943,906 - 42,944,041RGDNCBI36
Celera1039,627,055 - 39,627,190RGD
Cytogenetic Map10q11.2UniSTS
HuRef1040,149,996 - 40,150,131UniSTS
GDB:281473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371043,624,057 - 43,624,178UniSTSGRCh37
Build 361042,944,063 - 42,944,184RGDNCBI36
Celera1039,627,212 - 39,627,333RGD
Cytogenetic Map10q11.2UniSTS
HuRef1040,150,153 - 40,150,274UniSTS
GDB:342173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371043,609,836 - 43,610,117UniSTSGRCh37
Build 361042,929,842 - 42,930,123RGDNCBI36
Celera1039,612,994 - 39,613,275RGD
Cytogenetic Map10q11.2UniSTS
HuRef1040,135,935 - 40,136,216UniSTS
GDB:342177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371043,609,074 - 43,609,193UniSTSGRCh37
Build 361042,929,080 - 42,929,199RGDNCBI36
Celera1039,612,232 - 39,612,351RGD
Cytogenetic Map10q11.2UniSTS
HuRef1040,135,173 - 40,135,292UniSTS
GDB:579598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371043,602,969 - 43,603,081UniSTSGRCh37
Build 361042,922,975 - 42,923,087RGDNCBI36
Celera1039,606,128 - 39,606,240RGD
Cytogenetic Map10q11.2UniSTS
HuRef1040,129,070 - 40,129,184UniSTS
GDB:580702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371043,609,847 - 43,610,112UniSTSGRCh37
Build 361042,929,853 - 42,930,118RGDNCBI36
Celera1039,613,005 - 39,613,270RGD
Cytogenetic Map10q11.2UniSTS
HuRef1040,135,946 - 40,136,211UniSTS
GDB:592843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371043,595,905 - 43,596,170UniSTSGRCh37
Build 361042,915,911 - 42,916,176RGDNCBI36
Celera1039,599,063 - 39,599,328RGD
Cytogenetic Map10q11.2UniSTS
HuRef1040,122,007 - 40,122,272UniSTS
SHGC-105605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371043,625,966 - 43,626,248UniSTSGRCh37
Build 361042,945,972 - 42,946,254RGDNCBI36
Celera1039,629,121 - 39,629,403RGD
Cytogenetic Map10q11.2UniSTS
HuRef1040,152,063 - 40,152,345UniSTS
TNG Radiation Hybrid Map1019921.0UniSTS
STS-T15350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371043,606,573 - 43,606,722UniSTSGRCh37
Build 361042,926,579 - 42,926,728RGDNCBI36
Celera1039,609,732 - 39,609,881RGD
Cytogenetic Map10q11.2UniSTS
HuRef1040,132,673 - 40,132,822UniSTS
GeneMap99-GB4 RH Map10258.28UniSTS
NCBI RH Map10591.5UniSTS
PMC23476P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371043,617,348 - 43,617,523UniSTSGRCh37
Build 361042,937,354 - 42,937,529RGDNCBI36
Celera1039,620,503 - 39,620,678RGD
Cytogenetic Map10q11.2UniSTS
HuRef1040,143,444 - 40,143,619UniSTS
RH66458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371043,622,040 - 43,622,149UniSTSGRCh37
Build 361042,942,046 - 42,942,155RGDNCBI36
Celera1039,625,195 - 39,625,304RGD
Cytogenetic Map10q11.2UniSTS
HuRef1040,148,136 - 40,148,245UniSTS
GeneMap99-GB4 RH Map10259.57UniSTS
NCBI RH Map10591.5UniSTS
D10S1566  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371043,624,446 - 43,624,793UniSTSGRCh37
Build 361042,944,452 - 42,944,799RGDNCBI36
Celera1039,627,601 - 39,627,948RGD
Cytogenetic Map10q11.2UniSTS
GeneMap99-GB4 RH Map10255.95UniSTS
Whitehead-RH Map10331.4UniSTS
NCBI RH Map10591.5UniSTS
GDB:574049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371043,600,552 - 43,601,914UniSTSGRCh37
Celera1039,603,710 - 39,605,073UniSTS
Cytogenetic Map10q11.2UniSTS
HuRef1040,126,652 - 40,128,015UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 46 94 1 15 72 8 158 18 44 42 9 1
Low 2082 450 1146 323 275 206 2162 1313 2575 165 1196 911 126 1 936 1116 2 1
Below cutoff 251 2511 442 267 1318 224 2077 861 974 211 183 605 48 259 1660 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001355216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF032124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF520975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF520979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF520983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI472270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ844649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW297789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY615726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE261914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM661773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM703293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ070075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX332519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX376396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS542500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA100452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA235889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA911581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC351179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H24956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JF273638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JF276429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JF742661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC507554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF421948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU954552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S80097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S80552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S82976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S83049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y12528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000340058   ⟹   ENSP00000344798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1043,077,069 - 43,127,504 (+)Ensembl
RefSeq Acc Id: ENST00000355710   ⟹   ENSP00000347942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1043,077,069 - 43,130,351 (+)Ensembl
RefSeq Acc Id: ENST00000479913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1043,104,732 - 43,106,490 (+)Ensembl
RefSeq Acc Id: ENST00000498820   ⟹   ENSP00000419080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1043,077,074 - 43,114,593 (+)Ensembl
RefSeq Acc Id: ENST00000615310   ⟹   ENSP00000480088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1043,077,086 - 43,130,271 (+)Ensembl
RefSeq Acc Id: ENST00000638465   ⟹   ENSP00000491505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1043,100,484 - 43,102,835 (+)Ensembl
RefSeq Acc Id: ENST00000640619   ⟹   ENSP00000492728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1043,100,484 - 43,102,839 (+)Ensembl
RefSeq Acc Id: ENST00000671844   ⟹   ENSP00000500541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1043,077,064 - 43,127,435 (+)Ensembl
RefSeq Acc Id: ENST00000672389   ⟹   ENSP00000500252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1043,077,069 - 43,126,775 (+)Ensembl
RefSeq Acc Id: ENST00000683007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1043,104,753 - 43,130,271 (+)Ensembl
RefSeq Acc Id: ENST00000683278   ⟹   ENSP00000507117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1043,100,484 - 43,102,839 (+)Ensembl
RefSeq Acc Id: ENST00000683872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1043,109,207 - 43,120,912 (+)Ensembl
RefSeq Acc Id: ENST00000684216   ⟹   ENSP00000508223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1043,100,484 - 43,102,839 (+)Ensembl
RefSeq Acc Id: NM_001355216   ⟹   NP_001342145
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,104,765 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,982,270 - 44,007,848 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001406743   ⟹   NP_001393672
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406744   ⟹   NP_001393673
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406759   ⟹   NP_001393688
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406760   ⟹   NP_001393689
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406761   ⟹   NP_001393690
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406762   ⟹   NP_001393691
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406763   ⟹   NP_001393692
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406764   ⟹   NP_001393693
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406765   ⟹   NP_001393694
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406766   ⟹   NP_001393695
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406767   ⟹   NP_001393696
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406768   ⟹   NP_001393697
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406769   ⟹   NP_001393698
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406770   ⟹   NP_001393699
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406771   ⟹   NP_001393700
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406772   ⟹   NP_001393701
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406773   ⟹   NP_001393702
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406774   ⟹   NP_001393703
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406775   ⟹   NP_001393704
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406776   ⟹   NP_001393705
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406777   ⟹   NP_001393706
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406778   ⟹   NP_001393707
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406779   ⟹   NP_001393708
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406780   ⟹   NP_001393709
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406781   ⟹   NP_001393710
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406782   ⟹   NP_001393711
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406783   ⟹   NP_001393712
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406784   ⟹   NP_001393713
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406785   ⟹   NP_001393714
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406786   ⟹   NP_001393715
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406787   ⟹   NP_001393716
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406788   ⟹   NP_001393717
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406789   ⟹   NP_001393718
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406790   ⟹   NP_001393719
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406791   ⟹   NP_001393720
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406792   ⟹   NP_001393721
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406793   ⟹   NP_001393722
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_001406794   ⟹   NP_001393723
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
RefSeq Acc Id: NM_020630   ⟹   NP_065681
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
GRCh371043,572,517 - 43,625,799 (+)ENTREZGENE
Build 361042,892,523 - 42,942,958 (+)NCBI Archive
HuRef1040,098,756 - 40,151,896 (+)ENTREZGENE
CHM1_11043,611,715 - 43,662,153 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020975   ⟹   NP_066124
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,130,351 (+)NCBI
GRCh371043,572,517 - 43,625,799 (+)ENTREZGENE
Build 361042,892,523 - 42,945,805 (+)NCBI Archive
HuRef1040,098,756 - 40,151,896 (+)ENTREZGENE
CHM1_11043,611,715 - 43,665,000 (+)NCBI
T2T-CHM13v2.01043,954,542 - 44,007,848 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001342145 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393672 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393673 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393688 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393689 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393690 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393691 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393692 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393693 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393694 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393695 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393696 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393697 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393698 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393699 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393700 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393701 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393702 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393703 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393704 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393705 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393706 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393707 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393708 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393709 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393710 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393711 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393712 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393713 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393714 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393715 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393716 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393717 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393718 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393719 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393720 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393721 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393722 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393723 (Get FASTA)   NCBI Sequence Viewer  
  NP_065681 (Get FASTA)   NCBI Sequence Viewer  
  NP_066124 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB47046 (Get FASTA)   NCBI Sequence Viewer  
  AAB47047 (Get FASTA)   NCBI Sequence Viewer  
  AAB50647 (Get FASTA)   NCBI Sequence Viewer  
  AAB97168 (Get FASTA)   NCBI Sequence Viewer  
  AAD14422 (Get FASTA)   NCBI Sequence Viewer  
  AAD14423 (Get FASTA)   NCBI Sequence Viewer  
  AAH03072 (Get FASTA)   NCBI Sequence Viewer  
  AAH04257 (Get FASTA)   NCBI Sequence Viewer  
  AAM77275 (Get FASTA)   NCBI Sequence Viewer  
  AAM77279 (Get FASTA)   NCBI Sequence Viewer  
  AAM77283 (Get FASTA)   NCBI Sequence Viewer  
  AEA76514 (Get FASTA)   NCBI Sequence Viewer  
  AEH95840 (Get FASTA)   NCBI Sequence Viewer  
  AEH95841 (Get FASTA)   NCBI Sequence Viewer  
  AGK27784 (Get FASTA)   NCBI Sequence Viewer  
  AGT37291 (Get FASTA)   NCBI Sequence Viewer  
  BAF84496 (Get FASTA)   NCBI Sequence Viewer  
  BAG57939 (Get FASTA)   NCBI Sequence Viewer  
  CAA33333 (Get FASTA)   NCBI Sequence Viewer  
  CAA73131 (Get FASTA)   NCBI Sequence Viewer  
  CAA75753 (Get FASTA)   NCBI Sequence Viewer  
  CAB46483 (Get FASTA)   NCBI Sequence Viewer  
  CAM91187 (Get FASTA)   NCBI Sequence Viewer  
  EAW86576 (Get FASTA)   NCBI Sequence Viewer  
  EAW86577 (Get FASTA)   NCBI Sequence Viewer  
  EAW86578 (Get FASTA)   NCBI Sequence Viewer  
  EAW86579 (Get FASTA)   NCBI Sequence Viewer  
  EAW86580 (Get FASTA)   NCBI Sequence Viewer  
  EAW86581 (Get FASTA)   NCBI Sequence Viewer  
  EAW86582 (Get FASTA)   NCBI Sequence Viewer  
  EAW86583 (Get FASTA)   NCBI Sequence Viewer  
  EAW86584 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000344798
  ENSP00000344798.4
  ENSP00000347942
  ENSP00000347942.3
  ENSP00000419080.1
  ENSP00000480088
  ENSP00000480088.2
  ENSP00000491505.1
  ENSP00000492728.1
  ENSP00000500252.1
  ENSP00000500541.1
  ENSP00000507117.1
  ENSP00000508223.1
GenBank Protein P07949 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_066124   ⟸   NM_020975
- Peptide Label: isoform a precursor
- UniProtKB: Q9BTB0 (UniProtKB/Swiss-Prot),   A8K6Z2 (UniProtKB/Swiss-Prot),   P07949 (UniProtKB/Swiss-Prot),   F8TLW0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_065681   ⟸   NM_020630
- Peptide Label: isoform c precursor
- UniProtKB: F8TLW0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001342145   ⟸   NM_001355216
- Peptide Label: isoform d
- UniProtKB: B4DGX8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000491505   ⟸   ENST00000638465
RefSeq Acc Id: ENSP00000480088   ⟸   ENST00000615310
RefSeq Acc Id: ENSP00000492728   ⟸   ENST00000640619
RefSeq Acc Id: ENSP00000419080   ⟸   ENST00000498820
RefSeq Acc Id: ENSP00000344798   ⟸   ENST00000340058
RefSeq Acc Id: ENSP00000347942   ⟸   ENST00000355710
RefSeq Acc Id: ENSP00000500541   ⟸   ENST00000671844
RefSeq Acc Id: ENSP00000500252   ⟸   ENST00000672389
RefSeq Acc Id: ENSP00000507117   ⟸   ENST00000683278
RefSeq Acc Id: ENSP00000508223   ⟸   ENST00000684216
RefSeq Acc Id: NP_001393672   ⟸   NM_001406743
- Peptide Label: isoform a precursor
- UniProtKB: Q9BTB0 (UniProtKB/Swiss-Prot),   P07949 (UniProtKB/Swiss-Prot),   A8K6Z2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001393673   ⟸   NM_001406744
- Peptide Label: isoform b precursor
RefSeq Acc Id: NP_001393688   ⟸   NM_001406759
- Peptide Label: isoform e precursor
RefSeq Acc Id: NP_001393689   ⟸   NM_001406760
- Peptide Label: isoform e precursor
RefSeq Acc Id: NP_001393694   ⟸   NM_001406765
- Peptide Label: isoform i precursor
RefSeq Acc Id: NP_001393692   ⟸   NM_001406763
- Peptide Label: isoform g precursor
RefSeq Acc Id: NP_001393701   ⟸   NM_001406772
- Peptide Label: isoform o precursor
- UniProtKB: A0A087WWB1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393698   ⟸   NM_001406769
- Peptide Label: isoform l precursor
RefSeq Acc Id: NP_001393702   ⟸   NM_001406773
- Peptide Label: isoform p precursor
RefSeq Acc Id: NP_001393700   ⟸   NM_001406771
- Peptide Label: isoform n precursor
RefSeq Acc Id: NP_001393711   ⟸   NM_001406782
- Peptide Label: isoform x precursor
RefSeq Acc Id: NP_001393709   ⟸   NM_001406780
- Peptide Label: isoform v precursor
RefSeq Acc Id: NP_001393708   ⟸   NM_001406779
- Peptide Label: isoform v precursor
RefSeq Acc Id: NP_001393710   ⟸   NM_001406781
- Peptide Label: isoform w precursor
RefSeq Acc Id: NP_001393716   ⟸   NM_001406787
- Peptide Label: isoform cc precursor
RefSeq Acc Id: NP_001393714   ⟸   NM_001406785
- Peptide Label: isoform aa precursor
RefSeq Acc Id: NP_001393693   ⟸   NM_001406764
- Peptide Label: isoform h precursor
RefSeq Acc Id: NP_001393691   ⟸   NM_001406762
- Peptide Label: isoform f precursor
RefSeq Acc Id: NP_001393690   ⟸   NM_001406761
- Peptide Label: isoform f precursor
RefSeq Acc Id: NP_001393697   ⟸   NM_001406768
- Peptide Label: isoform k precursor
RefSeq Acc Id: NP_001393703   ⟸   NM_001406774
- Peptide Label: isoform q precursor
RefSeq Acc Id: NP_001393715   ⟸   NM_001406786
- Peptide Label: isoform bb precursor
RefSeq Acc Id: NP_001393712   ⟸   NM_001406783
- Peptide Label: isoform y precursor
RefSeq Acc Id: NP_001393699   ⟸   NM_001406770
- Peptide Label: isoform m precursor
RefSeq Acc Id: NP_001393695   ⟸   NM_001406766
- Peptide Label: isoform j precursor
RefSeq Acc Id: NP_001393696   ⟸   NM_001406767
- Peptide Label: isoform j precursor
RefSeq Acc Id: NP_001393707   ⟸   NM_001406778
- Peptide Label: isoform u precursor
RefSeq Acc Id: NP_001393704   ⟸   NM_001406775
- Peptide Label: isoform r precursor
RefSeq Acc Id: NP_001393705   ⟸   NM_001406776
- Peptide Label: isoform s precursor
RefSeq Acc Id: NP_001393706   ⟸   NM_001406777
- Peptide Label: isoform t precursor
RefSeq Acc Id: NP_001393719   ⟸   NM_001406790
- Peptide Label: isoform ff precursor
RefSeq Acc Id: NP_001393717   ⟸   NM_001406788
- Peptide Label: isoform dd precursor
RefSeq Acc Id: NP_001393718   ⟸   NM_001406789
- Peptide Label: isoform dd precursor
RefSeq Acc Id: NP_001393720   ⟸   NM_001406791
- Peptide Label: isoform gg precursor
RefSeq Acc Id: NP_001393713   ⟸   NM_001406784
- Peptide Label: isoform z precursor
RefSeq Acc Id: NP_001393723   ⟸   NM_001406794
- Peptide Label: isoform jj precursor
RefSeq Acc Id: NP_001393721   ⟸   NM_001406792
- Peptide Label: isoform hh precursor
RefSeq Acc Id: NP_001393722   ⟸   NM_001406793
- Peptide Label: isoform ii precursor
Protein Domains
Cadherin   Protein kinase   Ret cadherin like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P07949-F1-model_v2 AlphaFold P07949 1-1114 view protein structure

Promoters
RGD ID:6788046
Promoter ID:HG_KWN:9235
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000355710,   NM_020630,   NM_020975
Position:
Human AssemblyChrPosition (strand)Source
Build 361042,892,251 - 42,892,751 (+)MPROMDB
RGD ID:6814928
Promoter ID:HG_MRA:1850
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:AK294827
Position:
Human AssemblyChrPosition (strand)Source
Build 361042,920,601 - 42,921,101 (+)MPROMDB
RGD ID:7217385
Promoter ID:EPDNEW_H14438
Type:initiation region
Name:RET_1
Description:ret proto-oncogene
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,077,069 - 43,077,129EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9967 AgrOrtholog
COSMIC RET COSMIC
Ensembl Genes ENSG00000165731 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000340058 ENTREZGENE
  ENST00000340058.6 UniProtKB/Swiss-Prot
  ENST00000355710 ENTREZGENE
  ENST00000355710.8 UniProtKB/Swiss-Prot
  ENST00000498820.5 UniProtKB/TrEMBL
  ENST00000615310 ENTREZGENE
  ENST00000615310.5 UniProtKB/TrEMBL
  ENST00000638465.1 UniProtKB/TrEMBL
  ENST00000640619.1 UniProtKB/TrEMBL
  ENST00000671844.1 UniProtKB/TrEMBL
  ENST00000672389.1 UniProtKB/TrEMBL
  ENST00000683007 ENTREZGENE
  ENST00000683278.1 UniProtKB/TrEMBL
  ENST00000684216.1 UniProtKB/TrEMBL
Gene3D-CATH Cadherins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165731 GTEx
HGNC ID HGNC:9967 ENTREZGENE
Human Proteome Map RET Human Proteome Map
InterPro Cadherin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ret_CLD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ret_CLD3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RET_CLD4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_Ret_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5979 UniProtKB/Swiss-Prot
NCBI Gene 5979 ENTREZGENE
OMIM 164761 OMIM
PANTHER PROTO-ONCOGENE TYROSINE-PROTEIN KINASE RECEPTOR RET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYROSINE-PROTEIN KINASE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RET_CLD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RET_CLD3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RET_CLD4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34335 PharmGKB
PIRSF TyrPK_receptor_Ret UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS TYRKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CADHERIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TyrKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WWB1 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PPN7_HUMAN UniProtKB/TrEMBL
  A0A1W2PSA1_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHB7_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHR6_HUMAN UniProtKB/TrEMBL
  A0A804HIK7_HUMAN UniProtKB/TrEMBL
  A0A804HL71_HUMAN UniProtKB/TrEMBL
  A8K6Z2 ENTREZGENE
  B4DGX8 ENTREZGENE, UniProtKB/TrEMBL
  C9JYL6_HUMAN UniProtKB/TrEMBL
  F8TLS5_HUMAN UniProtKB/TrEMBL
  F8TLW0 ENTREZGENE, UniProtKB/TrEMBL
  L8EA94_HUMAN UniProtKB/TrEMBL
  M9Z0T2_HUMAN UniProtKB/TrEMBL
  O43519_HUMAN UniProtKB/TrEMBL
  P07949 ENTREZGENE
  Q8IZR8_HUMAN UniProtKB/TrEMBL
  Q8NFE8_HUMAN UniProtKB/TrEMBL
  Q99886_HUMAN UniProtKB/TrEMBL
  Q9BTB0 ENTREZGENE
  Q9BTX6_HUMAN UniProtKB/TrEMBL
  Q9UM90_HUMAN UniProtKB/TrEMBL
  Q9UMQ4_HUMAN UniProtKB/TrEMBL
  Q9UQV8_HUMAN UniProtKB/TrEMBL
  RET_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K6Z2 UniProtKB/Swiss-Prot
  Q15250 UniProtKB/Swiss-Prot
  Q9BTB0 UniProtKB/Swiss-Prot
  Q9H4A2 UniProtKB/Swiss-Prot