MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Cowden-Like Syndrome (C567337)
Parent Node: Diseases (C)
..Starting node ..COWDEN SYNDROME 6 (OMIM:615109)
Child Nodes:
Sister Nodes:
..3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA (OMIM:616271)
..3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739) L: 00484;
..3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
..AARSKOG SYNDROME, AUTOSOMAL DOMINANT (OMIM:100050)
..ABDOMINAL OBESITY-METABOLIC SYNDROME 1 (OMIM:605552)
..ABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
..ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
..ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
..ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
..Animal Diseases (D000820) 139
..ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
..ASPLENIA, ISOLATED CONGENITAL (OMIM:271400)
..ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
..AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
..AXENFELD-RIEGER SYNDROME, TYPE 2 (OMIM:601499)
..AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
..B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY (OMIM:616452)
..Bacterial Infections and Mycoses (D001423) 620
..BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
..BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
..BRACHYDACTYLY, TYPE E1 (OMIM:113300)
..BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
..CAPILLARY MALFORMATIONS, CONGENITAL (OMIM:163000)
..Cardiovascular Diseases (D002318) 1025 C:12
..CATEL-MANZKE SYNDROME (OMIM:616145)
..CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
..Chemically-Induced Disorders (D064419) 111 C:1
..CHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
..CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB (OMIM:136570)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..CHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230)
..COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426) L: 00090;
..COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651) L: 00446;
..COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652) L: 00447;
..COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016) L: 00443;
..COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654) L: 00448;
..COENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650) L: 00480;
..COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276) L: 00639;
..COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733) L: 00640;
..Congenital, Hereditary, and Neonatal Diseases and Abnormalities (D009358) 4904 C:68
..CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
..COUSIN SYNDROME (OMIM:260660)
..COWDEN SYNDROME 4 (OMIM:615107)
..COWDEN SYNDROME 5 (OMIM:615108)
..COWDEN SYNDROME 6 (OMIM:615109)
..COWDEN SYNDROME 7 (OMIM:616858)
..CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
..CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
..CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
..CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
..CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
..CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
..CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
..D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
..DEAFNESS, AUTOSOMAL RECESSIVE 101 (OMIM:615837)
..DEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
..DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF (OMIM:605429)
..DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT;DFNB36 DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT, (OMIM:609006)
..DEAFNESS, AUTOSOMAL RECESSIVE 8 (OMIM:601072)
..Digestive System Diseases (D004066) 640 C:9
..Disorders of Environmental Origin (D007280) 4
..DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
..DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
..DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
..DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 (OMIM:613987)
..DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 (OMIM:613988)
..DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
..DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 (OMIM:616353)
..ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
..ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE (OMIM:225100)
..EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 (OMIM:614557)
..Endocrine System Diseases (D004700) 742 C:3
..Eye Diseases (D005128) 1278 C:19
..Female Urogenital Diseases and Pregnancy Complications (D005261) 962 C:4
..GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
..GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS (OMIM:138800)
..GREENBERG DYSPLASIA (OMIM:215140)
..Hemic and Lymphatic Diseases (D006425) 790 C:1
..HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
..HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
..HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
..HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
..HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
..HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE (OMIM:145250)
..HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
..HYPOTRICHOSIS 2 (OMIM:146520)
..HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
..Immune System Diseases (D007154) 597 C:2
..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
..KERATOSIS PILARIS ATROPHICANS (OMIM:604093)
..KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
..L-FERRITIN DEFICIENCY (OMIM:615604)
..LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
..LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
..MACULAR DEGENERATION, X-LINKED ATROPHIC (OMIM:300834)
..Male Urogenital Diseases (D052801) 765 C:4
..MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME (OMIM:277000)
..MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
..MEGALOBLASTIC ANEMIA 1 (OMIM:261100)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10 (OMIM:615848)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6 (OMIM:613972)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 (OMIM:615134)
..Mental Disorders (D001523) 1080 C:11
..MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
..METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
..MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
..MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
..MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
..MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000) L: 00017;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041) L: 00026;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560) L: 00030;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662) L: 00033;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245) L: 00036;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400) L: 00038;
..MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
..MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
..MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
..MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
..MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299) L: 00044;
..MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..Musculoskeletal Diseases (D009140) 2320 C:37
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1 (OMIM:607949)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2 (OMIM:611046)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3 (OMIM:612929)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED (OMIM:300259)
..MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
..MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
..MYOPATHY, SPHEROID BODY (OMIM:182920)
..MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES (OMIM:616231)
..NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 (OMIM:151600)
..NEMALINE MYOPATHY 3;NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, (OMIM:161800)
..Neoplasms (D009369) 1125 C:1
..NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
..Nervous System Diseases (D009422) 3641 C:86
..NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
..NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
..NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298) L: 00422;
..NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
..NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
..NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 (OMIM:607721)
..NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
..Nutritional and Metabolic Diseases (D009750) 1518 C:92
..Occupational Diseases (D009784) 28
..OGDEN SYNDROME (OMIM:300855)
..Otorhinolaryngologic Diseases (D010038) 602 C:11
..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
..PALMOPLANTAR KERATODERMA AND WOOLLY HAIR (OMIM:616099)
..PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 (OMIM:613000)
..PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 (OMIM:616400)
..PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE (OMIM:615735)
..Parasitic Diseases (D010272) 178
..Pathological Conditions, Signs and Symptoms (D013568) 3149 C:40
..PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
..POLYDACTYLY, PREAXIAL II (OMIM:174500)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
..PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
..PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
..PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
..RENAL TUBULAR DYSGENESIS (OMIM:267430)
..Respiratory Tract Diseases (D012140) 422
..SCAPULOPERONEAL MYOPATHY, MYH7-RELATED (OMIM:181430)
..SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
..Skin and Connective Tissue Diseases (D017437) 1491 C:2
..SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672) L: 00083;
..SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
..SPLIT-HAND/FOOT MALFORMATION 3 (OMIM:246560)
..SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
..SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
..Stomatognathic Diseases (D009057) 594
..THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS (OMIM:617441)
..THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
..VAN DER WOUDE SYNDROME 1, MODIFIER OF (OMIM:604547)
..VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
..VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS (OMIM:615441)
..Virus Diseases (D014777) 307
..VISCERAL MYOPATHY (OMIM:155310)
..WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
..WIEDEMANN-STEINER SYNDROME (OMIM:605130)
..WITTEVEEN-KOLK SYNDROME (OMIM:613406)
..WOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300)
..Wounds and Injuries (D014947) 274
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

3101

Name:

COWDEN SYNDROME 6

Definition:

Alternative IDs:

DO:DOID:6457

ParentIDs:

MESH:C567337

TreeNumbers:

C04.445.435/C567337/615109 |C04.651.435/C567337/615109 |C04.700.435/C567337/615109 |C16.320.700.435/C567337/615109 |C18.452.660/C567337/615109

Synonyms:

CWS6

Slim Mappings:

Cancer|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: 615109
MeSH: 615109
OMIM: 615109;
MSeqDR :
Genes: AKT1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0001626	Abnormality of the cardiovascular system NAMDC: Cardiac:Maybe HP:0001626
4	HP:0001102	Angioid streaks of the fundus
5	HP:0003002	Breast carcinoma
6	HP:0000518	Cataract NAMDC: Cataracts
7	HP:0002253	Colonic diverticula
8	HP:0010619	Fibroadenoma of the breast
9	HP:0000221	Furrowed tongue
10	HP:0000853	Goiter
11	HP:0000771	Gynecomastia
12	HP:0004390	Hamartomatous polyposis
13	HP:0000365	Hearing impairment
14	HP:0000218	High palate
15	HP:0000034	Hydrocele testis
16	HP:0000836	Hyperthyroidism
17	HP:0000327	Hypoplasia of the maxilla
18	HP:0000821	Hypothyroidism NAMDC: Hypothyroidism
19	HP:0001249	Intellectual disability	HP:0040284
20	HP:0001256	Intellectual disability, mild	HP:0040284
21	HP:0002080	Intention tremor
22	HP:0002808	Kyphosis
23	HP:0002858	Meningioma
24	HP:0000347	Micrognathia
25	HP:0000545	Myopia
26	HP:0000160	Narrow mouth
27	HP:0000138	Ovarian cyst
28	HP:0000972	Palmoplantar hyperkeratosis
29	HP:0000767	Pectus excavatum
30	HP:0004481	Progressive macrocephaly
31	HP:0002650	Scoliosis
32	HP:0001250	Seizures NAMDC: Seizures
33	HP:0010609	Skin tags
34	HP:0001031	Subcutaneous lipoma
35	HP:0000854	Thyroid adenoma
36	HP:0100646	Thyroiditis
37	HP:0006740	Transitional cell carcinoma of the bladder
38	HP:0012871	Varicocele

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001382430.1(AKT1):c.1440C>G (p.Ala480=)	207	AKT1	Uncertain significance	rs1892307322	RCV001307428;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105236681	105236681	G	C	105236681	-
NM_001382430.1(AKT1):c.1437G>A (p.Thr479=)	207	AKT1	Likely benign	-1	RCV001458272;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105236684	105236684	C	T	105236684	-
NM_001382430.1(AKT1):c.1437G>T (p.Thr479=)	207	AKT1	Likely benign	-1	RCV002182997;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105236684	105236684	C	A	105236684	-
NM_001382430.1(AKT1):c.1436C>T (p.Thr479Met)	207	AKT1	Uncertain significance	rs201291259	RCV001303882;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105236685	105236685	G	A	105236685	-
NM_001382430.1(AKT1):c.1432G>A (p.Gly478Ser)	207	AKT1	Uncertain significance	rs1205616929	RCV000697095;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105236689	105236689	C	T	14:g.105236689C>T	-	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1431C>T (p.Ser477=)	207	AKT1	Likely benign	rs200213561	RCV000233871;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105236690	105236690	G	A	14:g.105236690G>A	ClinGen:CA7374435	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1419C>G (p.Ser473=)	207	AKT1	Likely benign	-1	RCV001495006;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105236702	105236702	G	C	105236702	-
NM_001382430.1(AKT1):c.1416C>T (p.Phe472=)	207	AKT1	Likely benign	rs184263655	RCV000867671;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105236705	105236705	G	A	14:g.105236705G>A	-
NM_001382430.1(AKT1):c.1394G>A (p.Arg465His)	207	AKT1	Uncertain significance	rs113547523	RCV000205643\|RCV001762445;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	14	105236727	105236727	C	T	14:g.105236727C>T	ClinGen:CA349773	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1393C>T (p.Arg465Cys)	207	AKT1	Uncertain significance	rs770370100	RCV001317986;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105236728	105236728	G	A	105236728	-
NM_001382430.1(AKT1):c.1390G>A (p.Glu464Lys)	207	AKT1	Uncertain significance	rs745803788	RCV000709350;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105236731	105236731	C	T	14:g.105236731C>T	-	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1389C>T (p.Ser463=)	207	AKT1	Benign	rs144112075	RCV000228204;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105236732	105236732	G	A	14:g.105236732G>A	ClinGen:CA7374442	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1383G>A (p.Val461=)	207	AKT1	Likely benign	-1	RCV002215400;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105236738	105236738	C	T	105236738	-
NM_001382430.1(AKT1):c.1380T>C (p.Cys460=)	207	AKT1	Likely benign	rs139394285	RCV000234633;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105236741	105236741	A	G	14:g.105236741A>G	ClinGen:CA7374446	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1373T>C (p.Met458Thr)	207	AKT1	Uncertain significance	rs587778018	RCV000119958\|RCV000464381;	N	MedGen:CN169374\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105236748	105236748	A	G	14:g.105236748A>G	ClinGen:CA156572	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1372A>G (p.Met458Val)	207	AKT1	Uncertain significance	rs1360782672	RCV001344733;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105236749	105236749	T	C	105236749	-
NM_001382430.1(AKT1):c.1364-10A>G	207	AKT1	Likely benign	rs755530413	RCV000863245;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105236767	105236767	T	C	14:g.105236767T>C	-
NM_001382430.1(AKT1):c.1364-11del	207	AKT1	Benign	-1	RCV002116054;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105236768	105236768	TA	T	105236767	-
NM_001382430.1(AKT1):c.1363+12C>T	207	AKT1	Benign	-1	RCV002124628;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237070	105237070	G	A	105237070	-
NM_001382430.1(AKT1):c.1363+9C>T	207	AKT1	Likely benign	rs926451222	RCV000871984\|RCV001437154;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237073	105237073	G	A	14:g.105237073G>A	-
NM_001382430.1(AKT1):c.1361A>G (p.Gln454Arg)	207	AKT1	Uncertain significance	rs759702315	RCV000651046;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237084	105237084	T	C	14:g.105237084T>C	ClinGen:CA7374469	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1351C>T (p.Pro451Ser)	207	AKT1	Uncertain significance	rs1892340313	RCV001333360;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237094	105237094	G	A	105237094	-
NM_001382430.1(AKT1):c.1341C>A (p.Ile447=)	207	AKT1	Likely benign	rs1060504820	RCV000476055\|RCV001469687;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237104	105237104	G	T	NC_000014.8:g.105237104G>T	ClinGen:CA16614104	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1338G>T (p.Met446Ile)	207	AKT1	Uncertain significance	-1	RCV001899979;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237107	105237107	C	A	105237107	-
NM_001382430.1(AKT1):c.1329G>A (p.Thr443=)	207	AKT1	Likely benign	rs376893212	RCV000230643;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237116	105237116	C	T	14:g.105237116C>T	ClinGen:CA7374475	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1320G>T (p.Glu440Asp)	207	AKT1	Uncertain significance	rs1159942120	RCV000538250;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237125	105237125	C	A	14:g.105237125C>A	ClinGen:CA391214538	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1303A>C (p.Thr435Pro)	207	AKT1	Pathogenic	rs397514645	RCV000033178;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237142	105237142	T	G	14:g.105237142T>G	ClinGen:CA130755,UniProtKB:P31749#VAR_069792,OMIM:164730.0003	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1293G>A (p.Ser431=)	207	AKT1	Likely benign	rs750104452	RCV000651063;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237152	105237152	C	T	14:g.105237152C>T	ClinGen:CA7374477	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1290G>A (p.Thr430=)	207	AKT1	Likely benign	rs779447501	RCV000651050;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237155	105237155	C	T	14:g.105237155C>T	ClinGen:CA7374479	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1289C>T (p.Thr430Met)	207	AKT1	Uncertain significance	rs749186394	RCV001058485;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237156	105237156	G	A	14:g.105237156G>A	-
NM_001382430.1(AKT1):c.1278G>A (p.Lys426=)	207	AKT1	Likely benign	rs1595239120	RCV000936124\|RCV001401971;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237167	105237167	C	T	14:g.105237167C>T	-
NM_001382430.1(AKT1):c.1277A>C (p.Lys426Thr)	207	AKT1	Uncertain significance	rs1892344387	RCV001316009;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237168	105237168	T	G	105237168	-
NM_001382430.1(AKT1):c.1261C>T (p.Leu421Phe)	207	AKT1	Uncertain significance	rs1566815164	RCV000690076;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237184	105237184	G	A	14:g.105237184G>A	-	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1261-10A>C	207	AKT1	Likely benign	-1	RCV001468805;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237194	105237194	T	G	105237194	-
NM_001382430.1(AKT1):c.1261-18G>A	207	AKT1	Likely benign	-1	RCV002113869;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237202	105237202	C	T	105237202	-
NM_001382430.1(AKT1):c.1261-19C>T	207	AKT1	Likely benign	-1	RCV002095250;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237203	105237203	G	A	105237203	-
NM_001382430.1(AKT1):c.1261-20C>T	207	AKT1	Likely benign	-1	RCV002185701;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105237204	105237204	G	A	105237204	-
NM_001382430.1(AKT1):c.1260+18A>G	207	AKT1	Likely benign	-1	RCV002156893;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238684	105238684	T	C	105238684	-
NM_001382430.1(AKT1):c.1260+16G>A	207	AKT1	Likely benign	-1	RCV002141735;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238686	105238686	C	T	105238686	-
NM_001382430.1(AKT1):c.1260+15C>T	207	AKT1	Likely benign	-1	RCV002106752;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238687	105238687	G	A	105238687	-
NM_001382430.1(AKT1):c.1260+12C>T	207	AKT1	Benign	-1	RCV002197734;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238690	105238690	G	A	105238690	-
NM_001382430.1(AKT1):c.1260+5G>A	207	AKT1	Uncertain significance	rs760365810	RCV001051127;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238697	105238697	C	T	14:g.105238697C>T	-
NM_001382430.1(AKT1):c.1260+4C>T	207	AKT1	Uncertain significance	rs765999603	RCV000469569;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238698	105238698	G	A	NC_000014.8:g.105238698G>A	ClinGen:CA7374515	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1260+1G>C	207	AKT1	Uncertain significance	rs112117625	RCV001321935;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238701	105238701	C	G	105238701	-
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=)	207	AKT1	Benign/Likely benign	rs139297659	RCV000205490\|RCV000503783\|RCV001582715;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201\|MedGen:CN169374\|MedGen:CN517202	14	105238711	105238711	G	A	NC_000014.8:g.105238711G>A	ClinGen:CA349643	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1248G>A (p.Val416=)	207	AKT1	Likely benign	-1	RCV001453389;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238714	105238714	C	T	105238714	-
NM_001382430.1(AKT1):c.1245C>G (p.His415Gln)	207	AKT1	Uncertain significance	-1	RCV001916189;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238717	105238717	G	C	105238717	-
NM_001382430.1(AKT1):c.1245C>T (p.His415=)	207	AKT1	Likely benign	-1	RCV002162137;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238717	105238717	G	A	105238717	-
NM_001382430.1(AKT1):c.1243C>T (p.His415Tyr)	207	AKT1	Uncertain significance	-1	RCV001969832;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238719	105238719	G	A	105238719	-
NM_001382430.1(AKT1):c.1242G>C (p.Gln414His)	207	AKT1	Uncertain significance	rs1555383354	RCV000525815;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238720	105238720	C	G	14:g.105238720C>G	ClinGen:CA391216125	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1234G>A (p.Val412Met)	207	AKT1	Uncertain significance	rs1444891733	RCV001222243;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238728	105238728	C	T	14:g.105238728C>T	-
NM_001382430.1(AKT1):c.1233C>T (p.Ile411=)	207	AKT1	Likely benign	rs375901448	RCV000227810;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238729	105238729	G	A	NC_000014.8:g.105238729G>A	ClinGen:CA7374521	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1228G>A (p.Gly410Ser)	207	AKT1	Uncertain significance	rs146483593	RCV000232840;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238734	105238734	C	T	14:g.105238734C>T	ClinGen:CA7374522	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1227C>T (p.Ala409=)	207	AKT1	Likely benign	rs141303557	RCV000231388;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238735	105238735	G	A	14:g.105238735G>A	ClinGen:CA7374523	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1216C>T (p.Arg406Cys)	207	AKT1	Uncertain significance	rs749544983	RCV001217031;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238746	105238746	G	A	14:g.105238746G>A	-
NM_001382430.1(AKT1):c.1206C>T (p.Ile402=)	207	AKT1	Likely benign	-1	RCV002189145;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238756	105238756	G	A	105238756	-
NM_001382430.1(AKT1):c.1198A>G (p.Lys400Glu)	207	AKT1	Uncertain significance	rs773607483	RCV000822640\|RCV001766745;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	14	105238764	105238764	T	C	14:g.105238764T>C	-
NM_001382430.1(AKT1):c.1195G>A (p.Ala399Thr)	207	AKT1	Uncertain significance	rs188580689	RCV000792970;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238767	105238767	C	T	14:g.105238767C>T	-
NM_001382430.1(AKT1):c.1194C>T (p.Asp398=)	207	AKT1	Likely benign	rs151254374	RCV000542011\|RCV001000136;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201\|MedGen:CN169374	14	105238768	105238768	G	A	14:g.105238768G>A	ClinGen:CA7374530	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1191G>T (p.Glu397Asp)	207	AKT1	Uncertain significance	rs1334042967	RCV000525011;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238771	105238771	C	A	14:g.105238771C>A	ClinGen:CA391216366	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1189G>C (p.Glu397Gln)	207	AKT1	Uncertain significance	rs531850885	RCV001210615;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238773	105238773	C	G	14:g.105238773C>G	-
NM_001382430.1(AKT1):c.1189G>A (p.Glu397Lys)	207	AKT1	Uncertain significance	-1	RCV001927750;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238773	105238773	C	T	105238773	-
NM_001382430.1(AKT1):c.1188C>T (p.Ser396=)	207	AKT1	Likely benign	rs911689817	RCV000950956\|RCV001462135;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238774	105238774	G	A	14:g.105238774G>A	-
NM_001382430.1(AKT1):c.1179C>T (p.Gly393=)	207	AKT1	Benign/Likely benign	rs11555434	RCV000227423\|RCV001561098;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201\|MedGen:CN517202	14	105238783	105238783	G	A	NC_000014.8:g.105238783G>A	ClinGen:CA7374533	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1176T>C (p.Leu392=)	207	AKT1	Likely benign	-1	RCV001432748;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238786	105238786	A	G	105238786	-
NM_001382430.1(AKT1):c.1173G>A (p.Arg391=)	207	AKT1	Uncertain significance	rs889505130	RCV001295011;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238789	105238789	C	T	105238789	-
NM_001382430.1(AKT1):c.1173-6C>G	207	AKT1	Uncertain significance	rs1036107517	RCV001300248;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105238795	105238795	G	C	105238795	-
NM_001382430.1(AKT1):c.1172+16C>G	207	AKT1	Likely benign	-1	RCV002149673;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239199	105239199	G	C	105239199	-
NM_001382430.1(AKT1):c.1172+10G>A	207	AKT1	Likely benign	rs200702576	RCV000870315\|RCV001441652;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239205	105239205	C	T	14:g.105239205C>T	-
NM_001382430.1(AKT1):c.1172+9C>T	207	AKT1	Likely benign	rs529348439	RCV000871617;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239206	105239206	G	A	14:g.105239206G>A	-
NM_001382430.1(AKT1):c.1172+9C>A	207	AKT1	Likely benign	-1	RCV001433902;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239206	105239206	G	T	105239206	-
NM_001382430.1(AKT1):c.1172+7G>A	207	AKT1	Likely benign	-1	RCV002077968;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239208	105239208	C	T	105239208	-
NM_001382430.1(AKT1):c.1172+5G>A	207	AKT1	Uncertain significance	rs751392710	RCV001230619;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239210	105239210	C	T	14:g.105239210C>T	-
NM_001382430.1(AKT1):c.1172+4A>C	207	AKT1	Likely benign	rs1319947920	RCV000989266;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239211	105239211	T	G	14:g.105239211T>G	-
NM_001382430.1(AKT1):c.1166A>C (p.Lys389Thr)	207	AKT1	Uncertain significance	-1	RCV001903640;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239221	105239221	T	G	105239221	-
NM_001382430.1(AKT1):c.1161C>T (p.Asp387=)	207	AKT1	Likely benign	rs1309319250	RCV000941132;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239226	105239226	G	A	14:g.105239226G>A	-
NM_001382430.1(AKT1):c.1159G>A (p.Asp387Asn)	207	AKT1	Uncertain significance	rs1566816289	RCV000699382;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239228	105239228	C	T	NC_000014.8:g.105239228C>T	-	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1149G>A (p.Leu383=)	207	AKT1	Likely benign	-1	RCV001489235;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239238	105239238	C	T	105239238	-
NM_001382430.1(AKT1):c.1146G>A (p.Gly382=)	207	AKT1	Likely benign	-1	RCV001480676;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239241	105239241	C	T	105239241	-
NM_001382430.1(AKT1):c.1134C>T (p.Ser378=)	207	AKT1	Likely benign	rs369527283	RCV000651056;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239253	105239253	G	A	NC_000014.8:g.105239253G>A	ClinGen:CA7374562	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1130A>G (p.Lys377Arg)	207	AKT1	Uncertain significance	rs1480573852	RCV001323953;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239257	105239257	T	C	105239257	-
NM_001382430.1(AKT1):c.1122C>T (p.Pro374=)	207	AKT1	Likely benign	rs374865919	RCV000866850;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239265	105239265	G	A	14:g.105239265G>A	-
NM_001382430.1(AKT1):c.1119T>A (p.Gly373=)	207	AKT1	Likely benign	-1	RCV001437294;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239268	105239268	A	T	105239268	-
NM_001382430.1(AKT1):c.1113G>C (p.Thr371=)	207	AKT1	Likely benign	-1	RCV001434939;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239274	105239274	C	G	105239274	-
NM_001382430.1(AKT1):c.1113G>A (p.Thr371=)	207	AKT1	Likely benign	-1	RCV001448246;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239274	105239274	C	T	105239274	-
NM_001382430.1(AKT1):c.1112C>A (p.Thr371Lys)	207	AKT1	Uncertain significance	rs781388586	RCV000817003;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239275	105239275	G	T	14:g.105239275G>T	-
NM_001382430.1(AKT1):c.1112C>T (p.Thr371Met)	207	AKT1	Uncertain significance	rs781388586	RCV001043127;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239275	105239275	G	A	14:g.105239275G>A	-
NM_001382430.1(AKT1):c.1109G>A (p.Arg370His)	207	AKT1	Uncertain significance	rs746272761	RCV000706299;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239278	105239278	C	T	14:g.105239278C>T	-	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1108C>T (p.Arg370Cys)	207	AKT1	Uncertain significance	rs549370342	RCV001045694;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239279	105239279	G	A	14:g.105239279G>A	-
NM_001382430.1(AKT1):c.1107G>A (p.Pro369=)	207	AKT1	Likely benign	rs150399268	RCV000867928;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239280	105239280	C	T	14:g.105239280C>T	-
NM_001382430.1(AKT1):c.1107G>C (p.Pro369=)	207	AKT1	Likely benign	-1	RCV001471878;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239280	105239280	C	G	105239280	-
NM_001382430.1(AKT1):c.1104C>T (p.Phe368=)	207	AKT1	Likely benign	rs1595241867	RCV000929778\|RCV001401529;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239283	105239283	G	A	14:g.105239283G>A	-
NM_001382430.1(AKT1):c.1099C>A (p.Arg367Ser)	207	AKT1	Uncertain significance	rs762705090	RCV000651045;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239288	105239288	G	T	NC_000014.8:g.105239288G>T	ClinGen:CA7374571	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1099C>T (p.Arg367Cys)	207	AKT1	Uncertain significance	rs762705090	RCV000815958;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239288	105239288	G	A	14:g.105239288G>A	-
NM_001382430.1(AKT1):c.1097T>C (p.Ile366Thr)	207	AKT1	Uncertain significance	rs1892477463	RCV001302477;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239290	105239290	A	G	105239290	-
NM_001382430.1(AKT1):c.1092G>A (p.Glu364=)	207	AKT1	Uncertain significance	-1	RCV001947554;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239295	105239295	C	T	105239295	-
NM_001382430.1(AKT1):c.1088T>C (p.Met363Thr)	207	AKT1	Uncertain significance	rs1892478123	RCV001298901;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239299	105239299	A	G	105239299	-
NM_001382430.1(AKT1):c.1086C>T (p.Leu362=)	207	AKT1	Likely benign	-1	RCV002122460;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239301	105239301	G	A	105239301	-
NM_001382430.1(AKT1):c.1083C>T (p.Ile361=)	207	AKT1	Likely benign	-1	RCV001471896;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239304	105239304	G	A	105239304	-
NM_001382430.1(AKT1):c.1080C>T (p.Leu360=)	207	AKT1	Likely benign	-1	RCV001399644;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239307	105239307	G	A	105239307	-
NM_001382430.1(AKT1):c.1053C>T (p.Asn351=)	207	AKT1	Likely benign	rs376942361	RCV000864249;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239334	105239334	G	A	14:g.105239334G>A	-
NM_001382430.1(AKT1):c.1038C>T (p.Arg346=)	207	AKT1	Likely benign	rs1060504819	RCV000471407\|RCV001446090;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239349	105239349	G	A	NC_000014.8:g.105239349G>A	ClinGen:CA16614106	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1037G>A (p.Arg346His)	207	AKT1	Uncertain significance	-1	RCV001934070;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239350	105239350	C	T	105239350	-
NM_001382430.1(AKT1):c.1036C>T (p.Arg346Cys)	207	AKT1	Uncertain significance	-1	RCV001887310;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239351	105239351	G	A	105239351	-
NM_001382430.1(AKT1):c.1032C>T (p.Cys344=)	207	AKT1	Benign	rs56289559	RCV000233578\|RCV001795366\|RCV001795367;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201\|MedGen:CN517202\|MedGen:CN169374	14	105239355	105239355	G	A	14:g.105239355G>A	ClinGen:CA7374578	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1020C>T (p.Tyr340=)	207	AKT1	Benign/Likely benign	rs144088506	RCV000229592\|RCV001579879\|RCV001762535\|RCV001727648;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN517202	14	105239367	105239367	G	A	14:g.105239367G>A	ClinGen:CA7374579	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.1011G>A (p.Val337=)	207	AKT1	Likely benign	-1	RCV001467575;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239376	105239376	C	T	105239376	-
NM_001382430.1(AKT1):c.1009G>A (p.Val337Met)	207	AKT1	Uncertain significance	-1	RCV002000995;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239378	105239378	C	T	105239378	-
NM_001382430.1(AKT1):c.1008C>T (p.Gly336=)	207	AKT1	Uncertain significance	rs1489572550	RCV001219427;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239379	105239379	G	A	14:g.105239379G>A	-
NM_001382430.1(AKT1):c.1005G>A (p.Leu335=)	207	AKT1	Uncertain significance	rs758651475	RCV001049600;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239382	105239382	C	T	14:g.105239382C>T	-
NM_001382430.1(AKT1):c.985G>A (p.Ala329Thr)	207	AKT1	Uncertain significance	-1	RCV001874962;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239402	105239402	C	T	105239402	-
NM_001382430.1(AKT1):c.983G>A (p.Arg328His)	207	AKT1	Uncertain significance	rs1892486033	RCV001342867;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239404	105239404	C	T	105239404	-
NM_001382430.1(AKT1):c.978C>T (p.Tyr326=)	207	AKT1	Likely benign	-1	RCV001440303;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239409	105239409	G	A	105239409	-
NM_001382430.1(AKT1):c.960G>A (p.Val320=)	207	AKT1	Likely benign	rs1595242097	RCV000980224\|RCV001394099;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239427	105239427	C	T	14:g.105239427C>T	-
NM_001382430.1(AKT1):c.958-6G>A	207	AKT1	Benign	rs199770031	RCV000232103;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239435	105239435	C	T	NC_000014.8:g.105239435C>T	ClinGen:CA7374586	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.958-7C>T	207	AKT1	Benign	rs369048965	RCV000203797;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239436	105239436	G	A	14:g.105239436G>A	ClinGen:CA348072	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.958-7C>G	207	AKT1	Likely benign	-1	RCV002210142;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239436	105239436	G	C	105239436	-
NM_001382430.1(AKT1):c.957+18G>A	207	AKT1	Benign	-1	RCV002192433;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239570	105239570	C	T	105239570	-
NM_001382430.1(AKT1):c.957+17C>T	207	AKT1	Likely benign	-1	RCV002208854;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239571	105239571	G	A	105239571	-
NM_001382430.1(AKT1):c.957+15T>C	207	AKT1	Likely benign	-1	RCV002151671;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239573	105239573	A	G	105239573	-
NM_001382430.1(AKT1):c.957+7G>A	207	AKT1	Likely benign	-1	RCV001461609;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239581	105239581	C	T	105239581	-
NM_001382430.1(AKT1):c.957+3G>A	207	AKT1	Conflicting interpretations of pathogenicity	rs1219173005	RCV000606636\|RCV001229553;	N	MedGen:CN169374\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239585	105239585	C	T	14:g.105239585C>T	ClinGen:CA658798276	CN169374 not specified;
NM_001382430.1(AKT1):c.957+3G>T	207	AKT1	Uncertain significance	rs1219173005	RCV001351018;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239585	105239585	C	A	105239585	-
NM_001382430.1(AKT1):c.954C>A (p.Pro318=)	207	AKT1	Uncertain significance	rs746944273	RCV001346452;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239591	105239591	G	T	105239591	-
NM_001382430.1(AKT1):c.951C>A (p.Ala317=)	207	AKT1	Likely benign	rs17846831	RCV000534938;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239594	105239594	G	T	14:g.105239594G>T	ClinGen:CA7374611	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.942G>A (p.Glu314=)	207	AKT1	Likely benign	-1	RCV002125648;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239603	105239603	C	T	105239603	-
NM_001382430.1(AKT1):c.927T>C (p.Phe309=)	207	AKT1	Likely benign	-1	RCV001454370;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239618	105239618	A	G	105239618	-
NM_001382430.1(AKT1):c.917T>C (p.Met306Thr)	207	AKT1	Uncertain significance	rs1555383471	RCV000651043;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239628	105239628	A	G	NC_000014.8:g.105239628A>G	ClinGen:CA391217685	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.916A>G (p.Met306Val)	207	AKT1	Uncertain significance	rs1892503990	RCV001057604;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239629	105239629	T	C	14:g.105239629T>C	-
NM_001382430.1(AKT1):c.907G>A (p.Gly303Ser)	207	AKT1	Uncertain significance	rs1360111387	RCV000792229;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239638	105239638	C	T	14:g.105239638C>T	-
NM_001382430.1(AKT1):c.906C>T (p.Asp302=)	207	AKT1	Likely benign	rs746001369	RCV000651057;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239639	105239639	G	A	NC_000014.8:g.105239639G>A	ClinGen:CA7374615	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.879C>T (p.Phe293=)	207	AKT1	Likely benign	rs139200289	RCV000476034;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239666	105239666	G	A	NC_000014.8:g.105239666G>A	ClinGen:CA7374616	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.876C>T (p.Asp292=)	207	AKT1	Likely benign	rs761942512	RCV000527184;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239669	105239669	G	A	14:g.105239669G>A	ClinGen:CA7374617	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.855C>T (p.Asp285=)	207	AKT1	Likely benign	rs149484260	RCV000460148;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239690	105239690	G	A	NC_000014.8:g.105239690G>A	ClinGen:CA7374619	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.829-4C>T	207	AKT1	Uncertain significance	rs756663391	RCV000822927;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239720	105239720	G	A	14:g.105239720G>A	-
NM_001382430.1(AKT1):c.829-9T>C	207	AKT1	Likely benign	-1	RCV002148859;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239725	105239725	A	G	105239725	-
NM_001382430.1(AKT1):c.828+16_828+18delinsTTT	207	AKT1	Likely benign	-1	RCV002107605;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239774	105239776	GCC	AAA	105239774	-
NM_001382430.1(AKT1):c.828+11G>A	207	AKT1	Likely benign	-1	RCV002194698;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239781	105239781	C	T	105239781	-
NM_001382430.1(AKT1):c.828+10C>T	207	AKT1	Uncertain significance	rs370490407	RCV000228128;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239782	105239782	G	A	14:g.105239782G>A	ClinGen:CA7374635	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.828+7del	207	AKT1	Likely benign	rs1555383494	RCV000651049;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239785	105239785	CA	C	14:g.105239785_105239785del	ClinGen:CA658798277	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.828+6C>G	207	AKT1	Uncertain significance	rs1892515105	RCV001215152;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239786	105239786	G	C	14:g.105239786G>C	-
NM_001382430.1(AKT1):c.828+5G>A	207	AKT1	Uncertain significance	rs1199214347	RCV000697348;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239787	105239787	C	T	14:g.105239787C>T	-	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.828+5G>C	207	AKT1	Uncertain significance	rs1199214347	RCV000793560;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239787	105239787	C	G	14:g.105239787C>G	-
NM_001382430.1(AKT1):c.828+4C>T	207	AKT1	Uncertain significance	rs3730330	RCV000460817;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239788	105239788	G	A	NC_000014.8:g.105239788G>A	ClinGen:CA7374636	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.822C>T (p.Asp274=)	207	AKT1	Likely benign	rs1555383496	RCV000551046;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239798	105239798	G	A	NC_000014.8:g.105239798G>A	ClinGen:CA488716878	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.818G>A (p.Arg273Gln)	207	AKT1	Uncertain significance	-1	RCV001917262;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239802	105239802	C	T	105239802	-
NM_001382430.1(AKT1):c.817C>T (p.Arg273Trp)	207	AKT1	Uncertain significance	-1	RCV001959429;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239803	105239803	G	A	105239803	-
NM_001382430.1(AKT1):c.810G>A (p.Val270=)	207	AKT1	Likely benign	rs2230508	RCV000864482;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239810	105239810	C	T	14:g.105239810C>T	-
NM_001382430.1(AKT1):c.807C>T (p.Asn269=)	207	AKT1	Benign	rs201044857	RCV000465624;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239813	105239813	G	A	NC_000014.8:g.105239813G>A	ClinGen:CA7374640	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.799G>A (p.Glu267Lys)	207	AKT1	Uncertain significance	rs1892518022	RCV001234146;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239821	105239821	C	T	14:g.105239821C>T	-
NM_001382430.1(AKT1):c.798G>A (p.Ser266=)	207	AKT1	Uncertain significance	rs367635775	RCV000534158;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239822	105239822	C	T	14:g.105239822C>T	ClinGen:CA7374641	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.797C>T (p.Ser266Leu)	207	AKT1	Uncertain significance	rs549083521	RCV000806321;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239823	105239823	G	A	14:g.105239823G>A	-
NM_001382430.1(AKT1):c.796T>G (p.Ser266Ala)	207	AKT1	Uncertain significance	rs1892518764	RCV001209400;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239824	105239824	A	C	14:g.105239824A>C	-
NM_001382430.1(AKT1):c.783G>A (p.Leu261=)	207	AKT1	Likely benign	rs143933508	RCV000466461;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239837	105239837	C	T	NC_000014.8:g.105239837C>T	ClinGen:CA7374646	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.770T>C (p.Ile257Thr)	207	AKT1	Uncertain significance	rs1555383511	RCV000558043;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239850	105239850	A	G	NC_000014.8:g.105239850A>G	ClinGen:CA391218330	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.763G>A (p.Ala255Thr)	207	AKT1	Uncertain significance	rs375395037	RCV000472766;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239857	105239857	C	T	NC_000014.8:g.105239857C>T	ClinGen:CA7374648	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.751C>T (p.Arg251Cys)	207	AKT1	Uncertain significance	rs780571834	RCV000691797;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239869	105239869	G	A	NC_000014.8:g.105239869G>A	-	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.750C>G (p.Ala250=)	207	AKT1	Likely benign	-1	RCV001467091;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239870	105239870	G	C	105239870	-
NM_001382430.1(AKT1):c.749C>T (p.Ala250Val)	207	AKT1	Uncertain significance	rs1892523027	RCV001338158;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239871	105239871	G	A	105239871	-
NM_001382430.1(AKT1):c.747G>T (p.Arg249=)	207	AKT1	Likely benign	-1	RCV001441214;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239873	105239873	C	A	105239873	-
NM_001382430.1(AKT1):c.746G>A (p.Arg249Gln)	207	AKT1	Uncertain significance	-1	RCV001916750;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239874	105239874	C	T	105239874	-
NM_001382430.1(AKT1):c.745C>T (p.Arg249Trp)	207	AKT1	Uncertain significance	rs1458420660	RCV000819636;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239875	105239875	G	A	14:g.105239875G>A	-
NM_001382430.1(AKT1):c.741G>C (p.Glu247Asp)	207	AKT1	Uncertain significance	-1	RCV001906337;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239879	105239879	C	G	105239879	-
NM_001382430.1(AKT1):c.738C>T (p.Ser246=)	207	AKT1	Conflicting interpretations of pathogenicity	rs368667384	RCV000545635\|RCV001087620;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239882	105239882	G	A	14:g.105239882G>A	ClinGen:CA7374653	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.734T>G (p.Phe245Cys)	207	AKT1	Uncertain significance	-1	RCV001960365;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239886	105239886	A	C	105239886	-
NM_001382430.1(AKT1):c.727C>T (p.Arg243Cys)	207	AKT1	Uncertain significance	rs1340970650	RCV001231204;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239893	105239893	G	A	14:g.105239893G>A	-
NM_001382430.1(AKT1):c.726G>A (p.Glu242=)	207	AKT1	Benign	rs1130233	RCV000597976\|RCV000989267\|RCV001595023;	N	MedGen:CN169374\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201\|MedGen:CN517202	14	105239894	105239894	C	T	14:g.105239894C>T	ClinGen:CA7374655	CN169374 not specified;
NM_001382430.1(AKT1):c.722G>A (p.Arg241Gln)	207	AKT1	Uncertain significance	rs1244832277	RCV001238573;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239898	105239898	C	T	14:g.105239898C>T	-
NM_001382430.1(AKT1):c.721C>T (p.Arg241Trp)	207	AKT1	Uncertain significance	rs768606668	RCV000456495;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239899	105239899	G	A	NC_000014.8:g.105239899G>A	ClinGen:CA7374656	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.719C>G (p.Ser240Cys)	207	AKT1	Uncertain significance	rs773520823	RCV001340694;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239901	105239901	G	C	105239901	-
NM_001382430.1(AKT1):c.705G>T (p.Leu235=)	207	AKT1	Likely benign	rs769090254	RCV000470550;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239915	105239915	C	A	NC_000014.8:g.105239915C>A	ClinGen:CA7374658	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.705G>A (p.Leu235=)	207	AKT1	Likely benign	rs769090254	RCV000651062;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239915	105239915	C	T	14:g.105239915C>T	ClinGen:CA488716620	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.703-4G>A	207	AKT1	Likely benign	rs776642823	RCV000474658;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239921	105239921	C	T	NC_000014.8:g.105239921C>T	ClinGen:CA7374660	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.703-5C>T	207	AKT1	Likely benign	rs377077146	RCV000651052\|RCV001421498;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239922	105239922	G	A	NC_000014.8:g.105239922G>A	ClinGen:CA7374661	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.703-12C>T	207	AKT1	Likely benign	-1	RCV002076697;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105239929	105239929	G	A	105239929	-
NM_001382430.1(AKT1):c.702+18G>A	207	AKT1	Likely benign	-1	RCV002104385;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105240231	105240231	C	T	105240231	-
NM_001382430.1(AKT1):c.702+17C>T	207	AKT1	Likely benign	-1	RCV002213125;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105240232	105240232	G	A	105240232	-
NM_001382430.1(AKT1):c.696G>A (p.Gly232=)	207	AKT1	Likely benign	rs201006619	RCV000868751\|RCV001421508;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105240255	105240255	C	T	14:g.105240255C>T	-
NM_001382430.1(AKT1):c.693C>T (p.Asn231=)	207	AKT1	Likely benign	rs767346459	RCV000537685;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105240258	105240258	G	A	14:g.105240258G>A	ClinGen:CA7374695	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.692A>G (p.Asn231Ser)	207	AKT1	Uncertain significance	rs1595243377	RCV000818537;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105240259	105240259	T	C	14:g.105240259T>C	-
NM_001382430.1(AKT1):c.687C>T (p.Tyr229=)	207	AKT1	Likely benign	rs769696222	RCV000557115;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105240264	105240264	G	A	14:g.105240264G>A	ClinGen:CA7374696	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.684G>A (p.Glu228=)	207	AKT1	Likely benign	-1	RCV001493990;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105240267	105240267	C	T	105240267	-
NM_001382430.1(AKT1):c.669C>G (p.Leu223=)	207	AKT1	Likely benign	rs376531915	RCV000868920\|RCV001477223;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105240282	105240282	G	C	14:g.105240282G>C	-
NM_001382430.1(AKT1):c.665G>A (p.Arg222His)	207	AKT1	Uncertain significance	rs369698909	RCV001221913;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105240286	105240286	C	T	14:g.105240286C>T	-
NM_001382430.1(AKT1):c.664C>T (p.Arg222Cys)	207	AKT1	Uncertain significance	rs551254461	RCV001058318;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105240287	105240287	G	A	14:g.105240287G>A	-
NM_001382430.1(AKT1):c.661G>A (p.Asp221Asn)	207	AKT1	Uncertain significance	rs762040581	RCV001342648;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105240290	105240290	C	T	105240290	-
NM_001382430.1(AKT1):c.660C>T (p.His220=)	207	AKT1	Likely benign	rs141168205	RCV000461950;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105240291	105240291	G	A	NC_000014.8:g.105240291G>A	ClinGen:CA7374702	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.641A>G (p.Lys214Arg)	207	AKT1	Uncertain significance	-1	RCV001362182;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105240310	105240310	T	C	105240310	-
NM_001382430.1(AKT1):c.635C>G (p.Ala212Gly)	207	AKT1	Uncertain significance	rs1163499100	RCV001213499;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105240316	105240316	G	C	14:g.105240316G>C	-
NM_001382430.1(AKT1):c.634-13C>T	207	AKT1	Likely benign	-1	RCV002201892;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105240330	105240330	G	A	105240330	-
NM_001382430.1(AKT1):c.633+15A>G	207	AKT1	Likely benign	-1	RCV002148716;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241260	105241260	T	C	105241260	-
NM_001382430.1(AKT1):c.633+9dup	207	AKT1	Likely benign	-1	RCV002153967;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241265	105241266	T	TC	105241265	-
NM_001382430.1(AKT1):c.633+9G>A	207	AKT1	Likely benign	-1	RCV001504937;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241266	105241266	C	T	105241266	-
NM_001382430.1(AKT1):c.633+7G>T	207	AKT1	Likely benign	-1	RCV001447735;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241268	105241268	C	A	105241268	-
NM_001382430.1(AKT1):c.614C>G (p.Ser205Cys)	207	AKT1	Uncertain significance	-1	RCV002002022;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241294	105241294	G	C	105241294	-
NM_001382430.1(AKT1):c.612C>T (p.Asn204=)	207	AKT1	Likely benign	rs1044733473	RCV000884027;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241296	105241296	G	A	14:g.105241296G>A	-
NM_001382430.1(AKT1):c.606G>A (p.Leu202=)	207	AKT1	Likely benign	rs759079296	RCV000868290;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241302	105241302	C	T	14:g.105241302C>T	-
NM_001382430.1(AKT1):c.604C>T (p.Leu202=)	207	AKT1	Benign	rs2230506	RCV000471677\|RCV001579825\|RCV001675908;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201\|MedGen:CN169374\|MedGen:CN517202	14	105241304	105241304	G	A	NC_000014.8:g.105241304G>A	ClinGen:CA7374727	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.599G>A (p.Arg200His)	207	AKT1	Uncertain significance	rs1462219795	RCV001062205;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241309	105241309	C	T	14:g.105241309C>T	-
NM_001382430.1(AKT1):c.591C>T (p.Thr197=)	207	AKT1	Likely benign	rs763782135	RCV000875161;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241317	105241317	G	A	14:g.105241317G>A	-
NC_000014.8:g.105241336_105241337insCGTCCTGTAAAGCAGGGCTGGGTGAGATGCCACCC	207	AKT1	Uncertain significance	-1	RCV001969395;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241336	105241337	T	TCGTCCTGTAAAGCAGGGCTGGGTGAGATGCCACCC	105241336	-
NM_001382430.1(AKT1):c.570C>T (p.Asp190=)	207	AKT1	Conflicting interpretations of pathogenicity	rs780207480	RCV000651059;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241338	105241338	G	A	NC_000014.8:g.105241338G>A	ClinGen:CA7374733	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.568-14_568-11dup	207	AKT1	Likely benign	-1	RCV002105578;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241350	105241351	A	AGGGC	105241350	-
NM_001382430.1(AKT1):c.567+19G>T	207	AKT1	Likely benign	-1	RCV002180413;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241394	105241394	C	A	105241394	-
NM_001382430.1(AKT1):c.567+14G>A	207	AKT1	Benign/Likely benign	-1	RCV001546715\|RCV002072003\|RCV001579332;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201\|MedGen:CN169374	14	105241399	105241399	C	T	105241399	-
NM_001382430.1(AKT1):c.567+12G>A	207	AKT1	Benign	-1	RCV002153804;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241401	105241401	C	T	105241401	-
NM_001382430.1(AKT1):c.567+9G>A	207	AKT1	Likely benign	rs200724383	RCV000867862;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241404	105241404	C	T	14:g.105241404C>T	-
NM_001382430.1(AKT1):c.567+8C>T	207	AKT1	Likely benign	rs752874396	RCV000544720;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241405	105241405	G	A	14:g.105241405G>A	ClinGen:CA7374755	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.567+5G>T	207	AKT1	Uncertain significance	rs373741434	RCV001313177;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241408	105241408	C	A	105241408	-
NM_001382430.1(AKT1):c.561G>A (p.Val187=)	207	AKT1	Likely benign	-1	RCV001460681;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241419	105241419	C	T	105241419	-
NM_001382430.1(AKT1):c.558C>T (p.Ile186=)	207	AKT1	Benign	rs34670300	RCV000456949\|RCV001672796\|RCV001700192;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201\|MedGen:CN517202\|MedGen:CN169374	14	105241422	105241422	G	A	NC_000014.8:g.105241422G>A	ClinGen:CA7374760	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.552A>G (p.Glu184=)	207	AKT1	Likely benign	-1	RCV001490465;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241428	105241428	T	C	105241428	-
NM_001382430.1(AKT1):c.544AAG[1] (p.Lys183del)	207	AKT1	Uncertain significance	-1	RCV001922155;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241431	105241433	CCTT	C	105241430	-
NM_001382430.1(AKT1):c.545A>G (p.Lys182Arg)	207	AKT1	Uncertain significance	rs1555383695	RCV000651044;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241435	105241435	T	C	NC_000014.8:g.105241435T>C	ClinGen:CA391219354	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.528C>T (p.Tyr176=)	207	AKT1	Likely benign	rs1422460834	RCV000651058;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241452	105241452	G	A	14:g.105241452G>A	ClinGen:CA488463776	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.525C>T (p.Tyr175=)	207	AKT1	Likely benign	rs774828129	RCV000651060;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241455	105241455	G	A	NC_000014.8:g.105241455G>A	ClinGen:CA7374763	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.521G>A (p.Arg174His)	207	AKT1	Uncertain significance	rs1200003171	RCV001225652;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241459	105241459	C	T	14:g.105241459C>T	-
NM_001382430.1(AKT1):c.520C>T (p.Arg174Cys)	207	AKT1	Uncertain significance	rs983007851	RCV000532235;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241460	105241460	G	A	14:g.105241460G>A	ClinGen:CA267349921	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.515C>T (p.Thr172Ile)	207	AKT1	Uncertain significance	-1	RCV002024871;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241465	105241465	G	A	105241465	-
NM_001382430.1(AKT1):c.512C>T (p.Ala171Val)	207	AKT1	Uncertain significance	rs768070795	RCV000792339;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241468	105241468	G	A	14:g.105241468G>A	-
NM_001382430.1(AKT1):c.511G>A (p.Ala171Thr)	207	AKT1	Uncertain significance	-1	RCV001999102;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241469	105241469	C	T	105241469	-
NM_001382430.1(AKT1):c.495C>T (p.Ile165=)	207	AKT1	Likely benign	rs1161567933	RCV000873201\|RCV001421970;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241485	105241485	G	A	14:g.105241485G>A	-
NM_001382430.1(AKT1):c.493A>G (p.Ile165Val)	207	AKT1	Uncertain significance	-1	RCV001933269;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241487	105241487	T	C	105241487	-
NM_001382430.1(AKT1):c.483C>T (p.Phe161=)	207	AKT1	Likely benign	rs139904675	RCV000869154;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241497	105241497	G	A	14:g.105241497G>A	-
NM_001382430.1(AKT1):c.468G>A (p.Leu156=)	207	AKT1	Likely benign	-1	RCV002148582;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241512	105241512	C	T	105241512	-
NM_001382430.1(AKT1):c.457C>T (p.Leu153=)	207	AKT1	Likely benign	rs149803079	RCV000651061;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241523	105241523	G	A	NC_000014.8:g.105241523G>A	ClinGen:CA267349953	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.453G>A (p.Glu151=)	207	AKT1	Likely benign	rs765537155	RCV000876363;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241527	105241527	C	T	14:g.105241527C>T	-
NM_001382430.1(AKT1):c.444C>T (p.Asn148=)	207	AKT1	Likely benign	-1	RCV001496594;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241536	105241536	G	A	105241536	-
NM_001382430.1(AKT1):c.440T>C (p.Met147Thr)	207	AKT1	Uncertain significance	rs758456890	RCV000651047;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241540	105241540	A	G	NC_000014.8:g.105241540A>G	ClinGen:CA7374773	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.438C>T (p.Thr146=)	207	AKT1	Likely benign	rs145780379	RCV000458557;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241542	105241542	G	A	NC_000014.8:g.105241542G>A	ClinGen:CA7374774	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.436-3T>C	207	AKT1	Uncertain significance	rs368553273	RCV000695568;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241547	105241547	A	G	NC_000014.8:g.105241547A>G	-	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.436-4A>G	207	AKT1	Likely benign	rs1060504821	RCV000465351\|RCV001400573;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241548	105241548	T	C	NC_000014.8:g.105241548T>C	ClinGen:CA16614461	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.436-18C>A	207	AKT1	Likely benign	-1	RCV002137366;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241562	105241562	G	T	105241562	-
NM_001382430.1(AKT1):c.435+17C>T	207	AKT1	Likely benign	-1	RCV002111306;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241972	105241972	G	A	105241972	-
NM_001382430.1(AKT1):c.435+10G>T	207	AKT1	Likely benign	-1	RCV002150732;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241979	105241979	C	A	105241979	-
NM_001382430.1(AKT1):c.432C>T (p.Arg144=)	207	AKT1	Benign	rs17846825	RCV000226398;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241992	105241992	G	A	14:g.105241992G>A	ClinGen:CA7374800	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.431G>A (p.Arg144His)	207	AKT1	Uncertain significance	rs1060503071	RCV000457583;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241993	105241993	C	T	NC_000014.8:g.105241993C>T	ClinGen:CA16614120	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.430C>T (p.Arg144Cys)	207	AKT1	Uncertain significance	rs375990114	RCV000704448;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105241994	105241994	G	A	NC_000014.8:g.105241994G>A	-	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.422C>T (p.Pro141Leu)	207	AKT1	Uncertain significance	-1	RCV001991557;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242002	105242002	G	A	105242002	-
NM_001382430.1(AKT1):c.415G>C (p.Ala139Pro)	207	AKT1	Uncertain significance	rs1566818045	RCV001068896;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242009	105242009	C	G	14:g.105242009C>G	-
NM_001382430.1(AKT1):c.412C>T (p.Leu138=)	207	AKT1	Likely benign	-1	RCV001426533;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242012	105242012	G	A	105242012	-
NM_001382430.1(AKT1):c.406G>A (p.Val136Met)	207	AKT1	Conflicting interpretations of pathogenicity	rs778376616	RCV000231420;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242018	105242018	C	T	14:g.105242018C>T	ClinGen:CA7374803	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.399G>A (p.Glu133=)	207	AKT1	Likely benign	-1	RCV002084568;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242025	105242025	C	T	105242025	-
NM_001382430.1(AKT1):c.394G>A (p.Glu132Lys)	207	AKT1	Uncertain significance	rs1319030326	RCV001068031;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242030	105242030	C	T	14:g.105242030C>T	-
NM_001382430.1(AKT1):c.387A>G (p.Ser129=)	207	AKT1	Likely benign	rs747700076	RCV000873199;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242037	105242037	T	C	14:g.105242037T>C	-
NM_001382430.1(AKT1):c.377G>C (p.Ser126Thr)	207	AKT1	Uncertain significance	rs1892659749	RCV001040405;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242047	105242047	C	G	14:g.105242047C>G	-
NM_001382430.1(AKT1):c.374C>T (p.Pro125Leu)	207	AKT1	Uncertain significance	-1	RCV001368107;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242050	105242050	G	A	105242050	-
NM_001382430.1(AKT1):c.365C>T (p.Ser122Leu)	207	AKT1	Uncertain significance	rs746934495	RCV001039573;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242059	105242059	G	A	14:g.105242059G>A	-
NM_001382430.1(AKT1):c.362G>A (p.Arg121Gln)	207	AKT1	Uncertain significance	rs1457484217	RCV000816394;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242062	105242062	C	T	14:g.105242062C>T	-
NM_001382430.1(AKT1):c.362G>T (p.Arg121Leu)	207	AKT1	Uncertain significance	-1	RCV001955536;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242062	105242062	C	A	105242062	-
NM_001382430.1(AKT1):c.361C>T (p.Arg121Trp)	207	AKT1	Uncertain significance	-1	RCV001898540;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242063	105242063	G	A	105242063	-
NM_001382430.1(AKT1):c.357C>T (p.Asp119=)	207	AKT1	Likely benign	-1	RCV001441320;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242067	105242067	G	A	105242067	-
NM_001382430.1(AKT1):c.356A>G (p.Asp119Gly)	207	AKT1	Uncertain significance	rs1566818099	RCV000709351;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242068	105242068	T	C	14:g.105242068T>C	-	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.340GAG[5] (p.Glu117dup)	207	AKT1	Uncertain significance	-1	RCV001918695;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242072	105242073	T	TCTC	105242072	-
NM_001382430.1(AKT1):c.340GAG[3] (p.Glu117del)	207	AKT1	Uncertain significance	rs768025881	RCV001056027;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242073	105242075	TCTC	T	14:g.105242073_105242075del	-
NM_001382430.1(AKT1):c.351G>A (p.Glu117=)	207	AKT1	Likely benign	-1	RCV002111823;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242073	105242073	C	T	105242073	-
NM_001382430.1(AKT1):c.349G>A (p.Glu117Lys)	207	AKT1	Uncertain significance	rs776345122	RCV001338081;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242075	105242075	C	T	105242075	-
NM_001382430.1(AKT1):c.348G>A (p.Glu116=)	207	AKT1	Likely benign	rs1595245735	RCV000909552\|RCV001398818;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242076	105242076	C	T	14:g.105242076C>T	-
NM_001382430.1(AKT1):c.343G>A (p.Glu115Lys)	207	AKT1	Uncertain significance	-1	RCV001943003;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242081	105242081	C	T	105242081	-
NM_001382430.1(AKT1):c.328C>T (p.Leu110Phe)	207	AKT1	Uncertain significance	-1	RCV002017304;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242096	105242096	G	A	105242096	-
NM_001382430.1(AKT1):c.325G>A (p.Gly109Ser)	207	AKT1	Uncertain significance	rs768800433	RCV001230428;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242099	105242099	C	T	14:g.105242099C>T	-
NM_001382430.1(AKT1):c.324C>T (p.Asp108=)	207	AKT1	Likely benign	rs940028787	RCV000951397\|RCV001417461;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242100	105242100	G	A	14:g.105242100G>A	-
NM_001382430.1(AKT1):c.318G>C (p.Val106=)	207	AKT1	Likely benign	-1	RCV002128924;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242106	105242106	C	G	105242106	-
NM_001382430.1(AKT1):c.315T>C (p.Thr105=)	207	AKT1	Likely benign	rs767715614	RCV000228870\|RCV001447357;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242109	105242109	A	G	14:g.105242109A>G	ClinGen:CA7374815	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.309C>T (p.Ile103=)	207	AKT1	Likely benign	-1	RCV001459097;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242115	105242115	G	A	105242115	-
NM_001382430.1(AKT1):c.303C>T (p.Thr101=)	207	AKT1	Likely benign	rs750890213	RCV000954343;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242121	105242121	G	A	14:g.105242121G>A	-
NM_001382430.1(AKT1):c.294G>A (p.Glu98=)	207	AKT1	Likely benign	rs766755485	RCV000977825\|RCV001430607;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242130	105242130	C	T	14:g.105242130C>T	-
NM_001382430.1(AKT1):c.288-3C>T	207	AKT1	Uncertain significance	rs61761189	RCV000468966;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242139	105242139	G	A	NC_000014.8:g.105242139G>A	ClinGen:CA7374819	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.288-4G>T	207	AKT1	Likely benign	-1	RCV001478081;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242140	105242140	C	A	105242140	-
NM_001382430.1(AKT1):c.288-7_288-5del	207	AKT1	Likely benign	rs1206923979	RCV000919398\|RCV001498892;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242141	105242143	CAGG	C	14:g.105242141_105242143del	-
NM_001382430.1(AKT1):c.288-9_288-8delinsGA	207	AKT1	Uncertain significance	rs1892668261	RCV001209397;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242144	105242145	AG	TC	NC_000014.8:g.105242144_105242145delinsTC	-
NM_001382430.1(AKT1):c.288-14C>T	207	AKT1	Benign	-1	RCV002184250;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242150	105242150	G	A	105242150	-
NM_001382430.1(AKT1):c.287+17G>A	207	AKT1	Uncertain significance	-1	RCV001997449;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242979	105242979	C	T	105242979	-
NM_001382430.1(AKT1):c.287+16C>T	207	AKT1	Likely benign	-1	RCV002216664;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242980	105242980	G	A	105242980	-
NM_001382430.1(AKT1):c.287+5G>A	207	AKT1	Uncertain significance	rs373853807	RCV000651048;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242991	105242991	C	T	14:g.105242991C>T	ClinGen:CA7374844	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.287+4C>T	207	AKT1	Uncertain significance	rs745831501	RCV000473230;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105242992	105242992	G	A	NC_000014.8:g.105242992G>A	ClinGen:CA7374846	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.278C>A (p.Pro93His)	207	AKT1	Uncertain significance	rs1296782302	RCV001225813;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243005	105243005	G	T	14:g.105243005G>T	-
NM_001382430.1(AKT1):c.267T>C (p.His89=)	207	AKT1	Likely benign	rs142646145	RCV000474768\|RCV001452373;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243016	105243016	A	G	NC_000014.8:g.105243016A>G	ClinGen:CA7374848	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.257G>A (p.Arg86His)	207	AKT1	Uncertain significance	-1	RCV001884797;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243026	105243026	C	T	105243026	-
NM_001382430.1(AKT1):c.253G>A (p.Glu85Lys)	207	AKT1	Uncertain significance	-1	RCV001908908;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243030	105243030	C	T	105243030	-
NM_001382430.1(AKT1):c.252C>T (p.Ile84=)	207	AKT1	Likely benign	-1	RCV001506642;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243031	105243031	G	A	105243031	-
NM_001382430.1(AKT1):c.237G>A (p.Gln79=)	207	AKT1	Likely benign	rs747020429	RCV000861827;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243046	105243046	C	T	14:g.105243046C>T	-
NM_001382430.1(AKT1):c.236A>G (p.Gln79Arg)	207	AKT1	Conflicting interpretations of pathogenicity	rs1057518602	RCV000413604\|RCV001851003;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243047	105243047	T	C	14:g.105243047T>C	ClinGen:CA16042842	CN517202 not provided;
NM_001382430.1(AKT1):c.227G>A (p.Arg76His)	207	AKT1	Uncertain significance	rs771065764	RCV000556163;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243056	105243056	C	T	14:g.105243056C>T	ClinGen:CA7374853	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.226C>T (p.Arg76Cys)	207	AKT1	Uncertain significance	-1	RCV002002825;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243057	105243057	G	A	105243057	-
NM_001382430.1(AKT1):c.225C>G (p.Ile75Met)	207	AKT1	Uncertain significance	rs587778019	RCV000119960\|RCV001854593;	N	MedGen:CN169374\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243058	105243058	G	C	14:g.105243058G>C	ClinGen:CA156582	CN169374 not specified;
NM_001382430.1(AKT1):c.222C>T (p.Ile74=)	207	AKT1	Likely benign	-1	RCV002142206;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243061	105243061	G	A	105243061	-
NM_001382430.1(AKT1):c.206G>A (p.Arg69Gln)	207	AKT1	Uncertain significance	rs183989506	RCV000543771;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243077	105243077	C	T	14:g.105243077C>T	ClinGen:CA7374855	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.201G>T (p.Arg67=)	207	AKT1	Likely benign	rs1452532489	RCV000951511\|RCV001446133;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243082	105243082	C	A	14:g.105243082C>A	-
NM_001382430.1(AKT1):c.200G>A (p.Arg67Gln)	207	AKT1	Uncertain significance	-1	RCV001871013;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243083	105243083	C	T	105243083	-
NM_001382430.1(AKT1):c.199C>T (p.Arg67Trp)	207	AKT1	Uncertain significance	rs762559261	RCV001054367;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243084	105243084	G	A	14:g.105243084G>A	-
NM_001382430.1(AKT1):c.195G>A (p.Thr65=)	207	AKT1	Likely benign	rs768384015	RCV000651055;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243088	105243088	C	T	NC_000014.8:g.105243088C>T	ClinGen:CA7374858	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.179G>A (p.Cys60Tyr)	207	AKT1	Uncertain significance	rs923841704	RCV001065500;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243104	105243104	C	T	14:g.105243104C>T	-
NM_001382430.1(AKT1):c.176-3C>G	207	AKT1	Uncertain significance	rs1401652672	RCV000792227;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243110	105243110	G	C	14:g.105243110G>C	-
NM_001382430.1(AKT1):c.176-4G>A	207	AKT1	Likely benign	rs776399604	RCV000651051;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243111	105243111	C	T	14:g.105243111C>T	ClinGen:CA7374862	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.176-5C>T	207	AKT1	Uncertain significance	rs377076374	RCV000706963;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243112	105243112	G	A	NC_000014.8:g.105243112G>A	-	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.176-5C>A	207	AKT1	Uncertain significance	rs377076374	RCV000709352;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243112	105243112	G	T	NC_000014.8:g.105243112G>T	-	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.176-5C>G	207	AKT1	Uncertain significance	-1	RCV001931974;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243112	105243112	G	C	105243112	-
NM_001382430.1(AKT1):c.176-8G>A	207	AKT1	Likely benign	rs1060504818	RCV000460335;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243115	105243115	C	T	NC_000014.8:g.105243115C>T	ClinGen:CA16614462	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.176-23_176-17del	207	AKT1	Benign	-1	RCV002092835;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105243124	105243130	GCCTCTGT	G	105243123	-
NM_001382430.1(AKT1):c.175+100A>T	207	AKT1	Benign	rs2494737	RCV000860785\|RCV001510588;	N	MedGen:CN517202\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246325	105246325	T	A	14:g.105246325T>A	-
NM_001382430.1(AKT1):c.175+18C>T	207	AKT1	Benign	-1	RCV001700563\|RCV002073288;	N	MedGen:CN169374\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246407	105246407	G	A	105246407	-
NM_001382430.1(AKT1):c.175+18C>G	207	AKT1	Benign	-1	RCV002177115;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246407	105246407	G	C	105246407	-
NM_001382430.1(AKT1):c.175+16G>C	207	AKT1	Likely benign	-1	RCV002206793;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246409	105246409	C	G	105246409	-
NM_001382430.1(AKT1):c.175+5G>A	207	AKT1	Uncertain significance	rs754417090	RCV000805032;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246420	105246420	C	T	14:g.105246420C>T	-
NM_001382430.1(AKT1):c.174G>A (p.Ala58=)	207	AKT1	Uncertain significance	rs560243859	RCV000555260;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246426	105246426	C	T	NC_000014.8:g.105246426C>T	ClinGen:CA7374890	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.165C>T (p.Phe55=)	207	AKT1	Likely benign	-1	RCV002073452;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246435	105246435	G	A	105246435	-
NM_001382430.1(AKT1):c.143G>A (p.Arg48His)	207	AKT1	Uncertain significance	rs774836044	RCV000695576;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246457	105246457	C	T	14:g.105246457C>T	-	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.142C>T (p.Arg48Cys)	207	AKT1	Uncertain significance	rs374093099	RCV000531301;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246458	105246458	G	A	14:g.105246458G>A	ClinGen:CA7374896	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu)	207	AKT1	Conflicting interpretations of pathogenicity	rs146875699	RCV000119959\|RCV000231031;	N	MedGen:CN169374\|MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246462	105246462	G	T	14:g.105246462G>T	ClinGen:CA156577	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.132T>C (p.Asp44=)	207	AKT1	Likely benign	-1	RCV002103923;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246468	105246468	A	G	105246468	-
NM_001382430.1(AKT1):c.129G>A (p.Gln43=)	207	AKT1	Likely benign	-1	RCV002137134;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246471	105246471	C	T	105246471	-
NM_001382430.1(AKT1):c.126G>A (p.Pro42=)	207	AKT1	Likely benign	rs375645311	RCV000476958;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246474	105246474	C	T	NC_000014.8:g.105246474C>T	ClinGen:CA7374898	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.122G>A (p.Arg41Gln)	207	AKT1	Uncertain significance	rs766000895	RCV001227660;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246478	105246478	C	T	14:g.105246478C>T	-
NM_001382430.1(AKT1):c.120G>A (p.Glu40=)	207	AKT1	Likely benign	rs370287382	RCV000554352;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246480	105246480	C	T	NC_000014.8:g.105246480C>T	ClinGen:CA7374901	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.117G>A (p.Lys39=)	207	AKT1	Uncertain significance	rs1595251382	RCV000816843;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246483	105246483	C	T	14:g.105246483C>T	-
NM_001382430.1(AKT1):c.107T>C (p.Ile36Thr)	207	AKT1	Uncertain significance	rs758157217	RCV000686512;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246493	105246493	A	G	14:g.105246493A>G	-	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.106A>G (p.Ile36Val)	207	AKT1	Uncertain significance	rs781339141	RCV000465998;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246494	105246494	T	C	NC_000014.8:g.105246494T>C	ClinGen:CA7374905	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.101C>A (p.Thr34Asn)	207	AKT1	Uncertain significance	rs750653493	RCV001060365;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246499	105246499	G	T	14:g.105246499G>T	-
NM_001382430.1(AKT1):c.87C>G (p.Leu29=)	207	AKT1	Likely benign	-1	RCV002162401;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246513	105246513	G	C	105246513	-
NM_001382430.1(AKT1):c.81C>T (p.Phe27=)	207	AKT1	Likely benign	rs749781543	RCV000651054;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246519	105246519	G	A	NC_000014.8:g.105246519G>A	ClinGen:CA7374909	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.73C>T (p.Arg25Cys)	207	AKT1	Pathogenic	rs397514644	RCV000033177;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246527	105246527	G	A	14:g.105246527G>A	ClinGen:CA130749,UniProtKB:P31749#VAR_069791,OMIM:164730.0002	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.68G>A (p.Arg23Gln)	207	AKT1	Uncertain significance	rs1892954317	RCV001294691;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246532	105246532	C	T	105246532	-
NC_000014.8:g.105246550_105246551insC	207	AKT1	Uncertain significance	-1	RCV002049128;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246550	105246551	T	TC	105246550	-
NM_001382430.1(AKT1):c.47-4_47-3del	207	AKT1	Uncertain significance	rs1892956019	RCV001202823;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246556	105246557	TAC	T	14:g.105246556_105246557del	-
NM_001382430.1(AKT1):c.47-4G>T	207	AKT1	Likely benign	-1	RCV001417354;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246557	105246557	C	A	105246557	-
NM_001382430.1(AKT1):c.47-4G>A	207	AKT1	Likely benign	-1	RCV001498555;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246557	105246557	C	T	105246557	-
NM_001382430.1(AKT1):c.47-4G>C	207	AKT1	Likely benign	-1	RCV002075605;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246557	105246557	C	G	105246557	-
NM_001382430.1(AKT1):c.47-5T>C	207	AKT1	Likely benign	-1	RCV002141182;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246558	105246558	A	G	105246558	-
NM_001382430.1(AKT1):c.47-8G>A	207	AKT1	Likely benign	-1	RCV002115407;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246561	105246561	C	T	105246561	-
NM_001382430.1(AKT1):c.47-9C>T	207	AKT1	Likely benign	rs776342530	RCV000463511;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246562	105246562	G	A	NC_000014.8:g.105246562G>A	ClinGen:CA7374916	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.47-12G>A	207	AKT1	Benign	-1	RCV002187578;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246565	105246565	C	T	105246565	-
NM_001382430.1(AKT1):c.47-13C>T	207	AKT1	Likely benign	-1	RCV002095177;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105246566	105246566	G	A	105246566	-
NM_001382430.1(AKT1):c.46+20G>A	207	AKT1	Likely benign	-1	RCV002211650;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105258915	105258915	C	T	105258915	-
NM_001382430.1(AKT1):c.46+19G>A	207	AKT1	Likely benign	-1	RCV002217382;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105258916	105258916	C	T	105258916	-
NM_001382430.1(AKT1):c.46+16C>T	207	AKT1	Likely benign	-1	RCV002131084;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105258919	105258919	G	A	105258919	-
NM_001382430.1(AKT1):c.46+11G>A	207	AKT1	Likely benign	-1	RCV002123119;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105258924	105258924	C	T	105258924	-
NM_001382430.1(AKT1):c.46+10C>T	207	AKT1	Likely benign	rs372014221	RCV000467155;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105258925	105258925	G	A	NC_000014.8:g.105258925G>A	ClinGen:CA7374944	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.46+10C>G	207	AKT1	Likely benign	rs372014221	RCV000651053;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105258925	105258925	G	C	NC_000014.8:g.105258925G>C	ClinGen:CA658798278	C3554519 615109 Cowden syndrome 6;
NC_000014.9:g.(?_104792588)_(104792643_?)dup	207	AKT1	Uncertain significance	-1	RCV001031617;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105258925	105258980	na	na	-1	-
NM_001382430.1(AKT1):c.46+9C>T	207	AKT1	Likely benign	-1	RCV002150095;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105258926	105258926	G	A	105258926	-
NM_001382430.1(AKT1):c.43C>A (p.Arg15=)	207	AKT1	Likely benign	-1	RCV001494531;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105258938	105258938	G	T	105258938	-
NM_001382430.1(AKT1):c.16A>G (p.Ile6Val)	207	AKT1	Uncertain significance	rs1893685625	RCV001306742;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105258965	105258965	T	C	105258965	-
NM_001382430.1(AKT1):c.10G>A (p.Val4Met)	207	AKT1	Uncertain significance	rs754031503	RCV000472618;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105258971	105258971	C	T	NC_000014.8:g.105258971C>T	ClinGen:CA7374949	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.9C>T (p.Asp3=)	207	AKT1	Likely benign	rs56217512	RCV000547548;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105258972	105258972	G	A	NC_000014.8:g.105258972G>A	ClinGen:CA7374950	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.7G>A (p.Asp3Asn)	207	AKT1	Uncertain significance	rs140532443	RCV000461062;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105258974	105258974	C	T	NC_000014.8:g.105258974C>T	ClinGen:CA7374951	C3554519 615109 Cowden syndrome 6;
NM_001382430.1(AKT1):c.6C>T (p.Ser2=)	207	AKT1	Likely benign	-1	RCV001491311;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105258975	105258975	G	A	105258975	-
NM_001382430.1(AKT1):c.4A>G (p.Ser2Gly)	207	AKT1	Uncertain significance	rs1566826869	RCV000688933;	N	MONDO:MONDO:0014048,MedGen:C3554519,OMIM:615109, Orphanet:201	14	105258977	105258977	T	C	NC_000014.8:g.105258977T>C	-	C3554519 615109 Cowden syndrome 6;

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