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 7 (OMIM:616858)
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:

3102

Name:

COWDEN SYNDROME 7

Definition:

Alternative IDs:

ParentIDs:

MESH:C567337

TreeNumbers:

C04.445.435/C567337/616858 |C04.651.435/C567337/616858 |C04.700.435/C567337/616858 |C16.320.700.435/C567337/616858 |C18.452.660/C567337/616858

Synonyms:

CWS7

Slim Mappings:

Cancer|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: 616858
MeSH: 616858
OMIM: 616858;
MSeqDR :
Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003002	Breast carcinoma
3	HP:0030075	Ductal carcinoma in situ
4	HP:0000872	Hashimoto thyroiditis
5	HP:0001028	Hemangioma
6	HP:0200008	Intestinal polyposis
7	HP:0000256	Macrocephaly
8	HP:0002895	Papillary thyroid carcinoma	HP:0040284
9	HP:0012844	Trichilemmoma

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_006363.6(SEC23B):c.40C>T (p.Arg14Trp)	10483	SEC23B	Pathogenic	rs121918222	RCV000001282\|RCV000153924\|RCV000688744;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MedGen:CN517202\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18491519	18491519	C	T	20:g.18491519C>T	ClinGen:CA114846,UniProtKB:Q15437#VAR_062294,OMIM:610512.0002	C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.66C>T (p.Asn22=)	10483	SEC23B	Benign	rs144542988	RCV000638850\|RCV001514736;	N	MedGen:CN517202\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18491545	18491545	C	T	NC_000020.10:g.18491545C>T	ClinGen:CA9777911	C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.74C>A (p.Pro25His)	10483	SEC23B	Conflicting interpretations of pathogenicity	rs6045440	RCV000153925\|RCV000490449\|RCV001082004\|RCV001335411;	N	MedGen:CN517202\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858,Or	20	18491553	18491553	C	A	20:g.18491553C>A	ClinGen:CA234903	C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.123C>T (p.Leu41=)	10483	SEC23B	Likely benign	rs554409729	RCV000928018\|RCV001506299;	N	MedGen:CN517202\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18491602	18491602	C	T	20:g.18491602C>T	-
NM_006363.6(SEC23B):c.211A>C (p.Asn71His)	10483	SEC23B	Uncertain significance	rs2059977897	RCV001294294;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18491690	18491690	A	C	18491690	-
NM_006363.6(SEC23B):c.221+3A>G	10483	SEC23B	Uncertain significance	rs777858803	RCV001050923;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18491703	18491703	A	G	20:g.18491703A>G	-
NM_006363.6(SEC23B):c.221+76A>G	10483	SEC23B	Benign/Likely benign	-1	RCV001811858\|RCV002074159;	N	MedGen:CN517202\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18491776	18491776	A	G	18491776	-
NM_006363.6(SEC23B):c.222-78C>T	10483	SEC23B	Uncertain significance	rs150393520	RCV001334543;	N	MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18492791	18492791	C	T	18492791	-
NC_000020.11:g.(?_18512225)_(18515736_?)del	10483	SEC23B	Pathogenic	-1	RCV000796123;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18492869	18496380	na	na		-
NM_006363.6(SEC23B):c.279+18A>T	10483	SEC23B	Likely benign	-1	RCV002114422;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18492944	18492944	A	T	18492944	-
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)	10483	SEC23B	Pathogenic	rs121918221	RCV000001281\|RCV000081407\|RCV000688348;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MedGen:CN517202\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18496339	18496339	G	A	20:g.18496339G>A	ClinGen:CA114843,UniProtKB:Q15437#VAR_062296,OMIM:610512.0001	C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.328T>C (p.Leu110=)	10483	SEC23B	Likely benign	-1	RCV002213315;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18496342	18496342	T	C	18496342	-
NM_006363.6(SEC23B):c.358G>A (p.Val120Met)	10483	SEC23B	Uncertain significance	rs372784283	RCV001351710;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18496372	18496372	G	A	18496372	-
NM_006363.6(SEC23B):c.367-17T>C	10483	SEC23B	Benign	-1	RCV002132224;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18505060	18505060	T	C	18505060	-
NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg)	10483	SEC23B	Uncertain significance	rs140466726	RCV001045553;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18505144	18505144	A	G	20:g.18505144A>G	-
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu)	10483	SEC23B	Benign/Likely benign	rs36023150	RCV000081408\|RCV000210063\|RCV000269836\|RCV000560193\|RCV001811382;	N	MedGen:CN169374\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858,Or	20	18505200	18505200	G	T	20:g.18505200G>T	ClinGen:CA148510,UniProtKB:Q15437#VAR_076424,OMIM:610512.0008	C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.519G>A (p.Val173=)	10483	SEC23B	Conflicting interpretations of pathogenicity	rs138314893	RCV000395336\|RCV001079079\|RCV001141444;	N	MedGen:CN517202\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18505229	18505229	G	A	20:g.18505229G>A	ClinGen:CA9778047	CN169374 not specified;
NM_006363.6(SEC23B):c.546A>T (p.Gly182=)	10483	SEC23B	Uncertain significance	-1	RCV001917066;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18505256	18505256	A	T	18505256	-
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln)	10483	SEC23B	Uncertain significance	rs201160833	RCV000178916\|RCV001071842\|RCV001141445;	N	MedGen:CN517202\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18505279	18505279	G	A	20:g.18505279G>A	ClinGen:CA246116	CN169374 not specified;
NM_006363.6(SEC23B):c.574A>C (p.Thr192Pro)	10483	SEC23B	Uncertain significance	rs2060118203	RCV001331574;	N	MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18505284	18505284	A	C	18505284	-
NM_006363.6(SEC23B):c.576_582del (p.Thr192_Lys193insTer)	10483	SEC23B	Pathogenic	-1	RCV001390594;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18505286	18505292	CCAAGGAT	C	18505285	-
NM_006363.6(SEC23B):c.604-5_604-4dup	10483	SEC23B	Benign	-1	RCV001516354;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18505563	18505564	C	CTT	18505563	-
NM_006363.6(SEC23B):c.604-4dup	10483	SEC23B	Benign	-1	RCV002117852;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18505563	18505564	C	CT	18505563	-
NM_006363.6(SEC23B):c.689+1G>A	10483	SEC23B	Pathogenic	rs398124226	RCV000081409\|RCV000689848\|RCV001195899;	N	MedGen:CN517202\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18505665	18505665	G	A	20:g.18505665G>A	ClinGen:CA222943	C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.689+10C>T	10483	SEC23B	Benign/Likely benign	rs200020725	RCV000877999\|RCV001141446\|RCV001817048;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MedGen:CN169374	20	18505674	18505674	C	T	20:g.18505674C>T	-
NM_006363.6(SEC23B):c.708C>A (p.His236Gln)	10483	SEC23B	Uncertain significance	rs748683327	RCV001143286\|RCV001858939;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18506450	18506450	C	A	20:g.18506450C>A	-
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile)	10483	SEC23B	Conflicting interpretations of pathogenicity	rs146917730	RCV001001701\|RCV001143287\|RCV001516029\|RCV001619877;	N	MedGen:CN169374\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MedGen:CN517202	20	18506512	18506512	C	T	20:g.18506512C>T	-
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg)	10483	SEC23B	Conflicting interpretations of pathogenicity	rs534770840	RCV000179916\|RCV000329540\|RCV001509924;	N	MedGen:CN517202\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18506515	18506515	A	G	20:g.18506515A>G	ClinGen:CA247249	C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter)	10483	SEC23B	Pathogenic	rs121918224	RCV000001284\|RCV001092534\|RCV001384733;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MedGen:CN517202\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18506532	18506532	C	T	20:g.18506532C>T	ClinGen:CA114851,OMIM:610512.0004	C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.816del (p.Ile272fs)	10483	SEC23B	Pathogenic	rs1568606490	RCV000703264;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18506557	18506557	AT	A	NC_000020.10:g.18506558del	-	C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.816T>C (p.Ile272=)	10483	SEC23B	Benign	rs115177758	RCV000241602\|RCV000365486\|RCV000877867\|RCV001812730;	N	MedGen:CN169374\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MedGen:CN517202	20	18506558	18506558	T	C	NC_000020.10:g.18506558T>C	ClinGen:CA9778129	C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.820G>A (p.Val274Ile)	10483	SEC23B	Uncertain significance	rs747388303	RCV001342153;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18506562	18506562	G	A	18506562	-
NM_006363.6(SEC23B):c.834+14T>C	10483	SEC23B	Likely benign	-1	RCV002173747;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18506590	18506590	T	C	18506590	-
NM_006363.6(SEC23B):c.834+40T>C	10483	SEC23B	Benign	-1	RCV001670710\|RCV001807500\|RCV001807499;	N	MedGen:CN517202\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18506616	18506616	T	C	18506616	-
NM_006363.6(SEC23B):c.834+41G>A	10483	SEC23B	Benign	-1	RCV001650012\|RCV001807479\|RCV001807478;	N	MedGen:CN517202\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18506617	18506617	G	A	18506617	-
NM_006363.6(SEC23B):c.834+116A>G	10483	SEC23B	Benign/Likely benign	-1	RCV001512472\|RCV001810744;	N	MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MedGen:CN517202	20	18506692	18506692	A	G	18506692	-
NM_006363.6(SEC23B):c.835-11C>T	10483	SEC23B	Likely benign	-1	RCV002147720;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18507006	18507006	C	T	18507006	-
NM_006363.6(SEC23B):c.835-7A>G	10483	SEC23B	Benign/Likely benign	rs184484121	RCV000877869\|RCV001143289\|RCV001811531;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MedGen:CN517202	20	18507010	18507010	A	G	20:g.18507010A>G	-
NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile)	10483	SEC23B	Uncertain significance	rs1363436677	RCV000821067;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18507072	18507072	C	T	20:g.18507072C>T	-
NM_006363.6(SEC23B):c.916G>A (p.Asp306Asn)	10483	SEC23B	Uncertain significance	-1	RCV001934399;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18507098	18507098	G	A	18507098	-
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser)	10483	SEC23B	Uncertain significance	rs143417821	RCV000794676\|RCV001772048;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18507167	18507167	G	T	20:g.18507167G>T	-
NM_006363.6(SEC23B):c.993+10C>G	10483	SEC23B	Benign	rs201948587	RCV000945890\|RCV001514484;	N	MedGen:CN517202\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18507185	18507185	C	G	20:g.18507185C>G	-
NM_006363.6(SEC23B):c.993+19G>A	10483	SEC23B	Benign/Likely benign	rs144225458	RCV000878355\|RCV001811532;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MedGen:CN517202	20	18507194	18507194	G	A	20:g.18507194G>A	-
NM_006363.6(SEC23B):c.1043A>G (p.Asp348Gly)	10483	SEC23B	Uncertain significance	rs2060144762	RCV001050924;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18508189	18508189	A	G	20:g.18508189A>G	-
NM_006363.6(SEC23B):c.1062T>C (p.Leu354=)	10483	SEC23B	Likely benign	-1	RCV001437407;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18508208	18508208	T	C	18508208	-
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu)	10483	SEC23B	Conflicting interpretations of pathogenicity	rs142461689	RCV000275527\|RCV000945938\|RCV001509049;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MedGen:CN517202	20	18511412	18511412	T	C	NC_000020.10:g.18511412T>C	ClinGen:CA9778252	C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1233+4C>T	10483	SEC23B	Uncertain significance	rs201883785	RCV000810030\|RCV001509051;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MedGen:CN517202	20	18511451	18511451	C	T	20:g.18511451C>T	-
NM_006363.6(SEC23B):c.1233+9A>G	10483	SEC23B	Benign	rs6081189	RCV000081398\|RCV000330664\|RCV001511469\|RCV001807019\|RCV001636646;	N	MedGen:CN169374\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858,Or	20	18511456	18511456	A	G	20:g.18511456A>G	ClinGen:CA148495	C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1234-14_1234-13del	10483	SEC23B	Likely benign	-1	RCV002099406;	N	MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18513292	18513293	TCA	T	18513291	-
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile)	10483	SEC23B	Benign/Likely benign	rs41309927	RCV000153927\|RCV000295373\|RCV001518565\|RCV001573570;	N	MedGen:CN169374\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MedGen:CN517202	20	18513350	18513350	G	A	20:g.18513350G>A	ClinGen:CA180422,UniProtKB:Q15437#VAR_062303	C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu)	10483	SEC23B	Benign	rs17807673	RCV000081399\|RCV000317780\|RCV001522156\|RCV001682777;	N	MedGen:CN169374\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MedGen:CN517202	20	18513372	18513372	C	T	20:g.18513372C>T	ClinGen:CA148496,UniProtKB:Q15437#VAR_034482	C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp)	10483	SEC23B	Conflicting interpretations of pathogenicity	rs147410912	RCV000638851\|RCV001509052;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MedGen:CN517202	20	18516299	18516299	G	T	20:g.18516299G>T	ClinGen:CA9778320	C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.1335G>A (p.Thr445=)	10483	SEC23B	Conflicting interpretations of pathogenicity	rs146587686	RCV000282343\|RCV000890287\|RCV001532448;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MedGen:CN517202	20	18516317	18516317	G	A	NC_000020.10:g.18516317G>A	ClinGen:CA9778321	C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1400A>G (p.Asn467Ser)	10483	SEC23B	Uncertain significance	-1	RCV001924267;	N	MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18516382	18516382	A	G	18516382	-
NM_006363.6(SEC23B):c.1404+5G>A	10483	SEC23B	Likely pathogenic	rs1555789463	RCV000638849;	N	MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18516391	18516391	G	A	NC_000020.10:g.18516391G>A	ClinGen:CA658799346	C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.1404+20_1404+21del	10483	SEC23B	Benign	-1	RCV002172968;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18516406	18516407	CAT	C	18516405	-
NM_006363.6(SEC23B):c.1405-7C>T	10483	SEC23B	Benign	rs2273525	RCV000081400\|RCV000337395\|RCV000831360\|RCV001515711;	N	MedGen:CN169374\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MedGen:CN517202\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18522933	18522933	C	T	20:g.18522933C>T	ClinGen:CA148499	C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1415C>T (p.Pro472Leu)	10483	SEC23B	Uncertain significance	-1	RCV001939951;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18522950	18522950	C	T	18522950	-
NM_006363.6(SEC23B):c.1416G>C (p.Pro472=)	10483	SEC23B	Likely benign	-1	RCV001423607;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18522951	18522951	G	C	18522951	-
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln)	10483	SEC23B	Benign	rs2273526	RCV000081401\|RCV000378050\|RCV001518566\|RCV001682778\|RCV001807020;	N	MedGen:CN169374\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MedGen:CN517202\|MONDO:MONDO:0014802,MedGen:C422517	20	18523002	18523002	C	G	20:g.18523002C>G	ClinGen:CA148500,UniProtKB:Q15437#VAR_020318	C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1475C>T (p.Thr492Ile)	10483	SEC23B	Uncertain significance	rs757801115	RCV001327523;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18523010	18523010	C	T	18523010	-
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His)	10483	SEC23B	Benign/Likely benign	rs141588462	RCV000250114\|RCV000877868\|RCV001138957\|RCV001812729;	N	MedGen:CN169374\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MedGen:CN517202	20	18523019	18523019	G	A	20:g.18523019G>A	ClinGen:CA9778369	CN169374 not specified;
NM_006363.6(SEC23B):c.1486A>G (p.Ile496Val)	10483	SEC23B	Uncertain significance	-1	RCV001966166;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18523021	18523021	A	G	18523021	-
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys)	10483	SEC23B	Pathogenic	rs727504145	RCV000153928\|RCV000779341\|RCV001850108;	N	MedGen:CN517202\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18523024	18523024	C	T	20:g.18523024C>T	UniProtKB:Q15437#VAR_062305,ClinGen:CA234906	CN517202 not provided;
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=)	10483	SEC23B	Benign	rs147036760	RCV000081402\|RCV000343273\|RCV000878592\|RCV001811380;	N	MedGen:CN169374\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MedGen:CN517202	20	18523038	18523038	C	T	20:g.18523038C>T	ClinGen:CA148503	C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter)	10483	SEC23B	Pathogenic	rs1568617456	RCV000691489;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18523042	18523042	C	T	NC_000020.10:g.18523042C>T	-	C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.1512-16_1512-7del	10483	SEC23B	Uncertain significance	rs2060301818	RCV001315558;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18523647	18523656	AACTCTGGAAT	A	18523646	-
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=)	10483	SEC23B	Conflicting interpretations of pathogenicity	rs138198461	RCV000736084\|RCV000990293\|RCV001509053\|RCV000878440;	N	MedGen:CN169374\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MedGen:CN517202\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18523663	18523663	T	C	20:g.18523663T>C	ClinGen:CA9778401	C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1569T>C (p.Ala523=)	10483	SEC23B	Likely benign	-1	RCV002089001;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18523720	18523720	T	C	18523720	-
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala)	10483	SEC23B	Likely benign	rs143456757	RCV000945878;	N	MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18523746	18523746	G	C	20:g.18523746G>C	-
NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter)	10483	SEC23B	Pathogenic	-1	RCV001894286;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18523754	18523754	C	T	18523754	-
NM_006363.6(SEC23B):c.1636C>T (p.Arg546Trp)	10483	SEC23B	Uncertain significance	-1	RCV001974454;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18523787	18523787	C	T	18523787	-
NM_006363.6(SEC23B):c.1638G>A (p.Arg546=)	10483	SEC23B	Likely benign	rs138623580	RCV000960427;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18523789	18523789	G	A	20:g.18523789G>A	-
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln)	10483	SEC23B	Benign/Likely benign	rs111572459	RCV000247103\|RCV000421047\|RCV001078619\|RCV001141558;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18523800	18523800	G	A	20:g.18523800G>A	ClinGen:CA9778435	C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.1665+6T>C	10483	SEC23B	Conflicting interpretations of pathogenicity	rs371786580	RCV000692503\|RCV001141559\|RCV001811442;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MedGen:CN517202	20	18523822	18523822	T	C	NC_000020.10:g.18523822T>C	-	C1306589 224100 Congenital dyserythropoietic anemia, type II;
NM_006363.6(SEC23B):c.1665+48C>T	10483	SEC23B	Benign	-1	RCV001612097\|RCV001807443\|RCV001807442;	N	MedGen:CN517202\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18523864	18523864	C	T	18523864	-
NM_006363.6(SEC23B):c.1666-148G>C	10483	SEC23B	Benign	-1	RCV002127411;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18526452	18526452	G	C	18526452	-
NM_006363.6(SEC23B):c.1743+168A>G	10483	SEC23B	Conflicting interpretations of pathogenicity	rs111951711	RCV000877909\|RCV001509054;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MedGen:CN517202	20	18526845	18526845	A	G	20:g.18526845A>G	-
NM_006363.6(SEC23B):c.1744-20T>A	10483	SEC23B	Benign	rs3736775	RCV000081404\|RCV001511470\|RCV001807022\|RCV001682779\|RCV001807021;	N	MedGen:CN169374\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MedGen:CN517202\|MONDO:MONDO:0009134,MedGen:C1306589,	20	18529233	18529233	T	A	20:g.18529233T>A	ClinGen:CA148506	CN169374 not specified;
NM_006363.6(SEC23B):c.1781T>G (p.Val594Gly)	10483	SEC23B	Pathogenic	rs752366963	RCV000210069;	N	MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18529290	18529290	T	G	NC_000020.10:g.18529290T>G	ClinGen:CA352452,UniProtKB:Q15437#VAR_076425,OMIM:610512.0007	C4225179 616858 Cowden syndrome 7;
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=)	10483	SEC23B	Conflicting interpretations of pathogenicity	rs139882548	RCV000308177\|RCV000878323;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18529318	18529318	A	G	NC_000020.10:g.18529318A>G	ClinGen:CA9778503	C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.1815C>T (p.Tyr605=)	10483	SEC23B	Likely benign	rs779351917	RCV000912846;	N	MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18529324	18529324	C	T	20:g.18529324C>T	-
NM_006363.6(SEC23B):c.1884C>T (p.Tyr628=)	10483	SEC23B	Likely benign	-1	RCV001479099;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18529393	18529393	C	T	18529393	-
NM_006363.6(SEC23B):c.1992+12T>C	10483	SEC23B	Likely benign	-1	RCV002171371;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18531831	18531831	T	C	18531831	-
NM_006363.6(SEC23B):c.1993-16G>A	10483	SEC23B	Benign	-1	RCV002111364;	N	MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18534863	18534863	G	A	18534863	-
NM_006363.6(SEC23B):c.2008C>T (p.Arg670Cys)	10483	SEC23B	Uncertain significance	rs752037101	RCV001241508;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18534894	18534894	C	T	20:g.18534894C>T	-
NM_006363.6(SEC23B):c.2009G>A (p.Arg670His)	10483	SEC23B	Uncertain significance	-1	RCV001903663;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18534895	18534895	G	A	18534895	-
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile)	10483	SEC23B	Conflicting interpretations of pathogenicity	rs202187007	RCV000946264\|RCV001141560;	N	MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18534917	18534917	G	A	20:g.18534917G>A	-
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=)	10483	SEC23B	Benign	rs7262532	RCV000081405\|RCV000344362\|RCV000638852\|RCV001689628;	N	MedGen:CN169374\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MedGen:CN517202	20	18534947	18534947	G	T	20:g.18534947G>T	ClinGen:CA148507	C0002876 Congenital dyserythropoietic anemia;
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys)	10483	SEC23B	Likely pathogenic	-1	RCV002020875;	N	MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18534987	18534987	C	T	18534987	-
NM_006363.6(SEC23B):c.2126A>G (p.Asn709Ser)	10483	SEC23B	Uncertain significance	-1	RCV001963685;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18535012	18535012	A	G	18535012	-
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met)	10483	SEC23B	Uncertain significance	rs752664090	RCV000799127;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18535015	18535015	C	T	20:g.18535015C>T	-
NM_006363.6(SEC23B):c.2149-21TTG[4]	10483	SEC23B	Likely benign	-1	RCV002123874;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18535731	18535733	TTTG	T	18535730	-
NM_006363.6(SEC23B):c.2150del (p.Ala717fs)	10483	SEC23B	Conflicting interpretations of pathogenicity	rs1334741748	RCV000779342\|RCV001873183;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18535753	18535753	GC	G	NC_000020.10:g.18535753del	-
NM_006363.6(SEC23B):c.2199G>C (p.Leu733=)	10483	SEC23B	Likely benign	rs1600281875	RCV000899105\|RCV001419796;	N	MedGen:CN517202\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18535802	18535802	G	C	20:g.18535802G>C	-
NM_006363.6(SEC23B):c.2242G>A (p.Asp748Asn)	10483	SEC23B	Uncertain significance	-1	RCV002012196;	N	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201	20	18541322	18541322	G	A	18541322	-
NM_006363.6(SEC23B):c.2268C>T (p.Asp756=)	10483	SEC23B	Conflicting interpretations of pathogenicity	-1	RCV001509057\|RCV002070286;	N	MedGen:CN517202\|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201; MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873	20	18541348	18541348	C	T	18541348	-
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=)	10483	SEC23B	Benign	rs77945587	RCV000081406\|RCV000308861\|RCV000877918\|RCV001811381;	N	MedGen:CN169374\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873\|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100, Orphanet:98873; MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858, Orphanet:201\|MedGen:CN517202	20	18541378	18541378	C	T	20:g.18541378C>T	ClinGen:CA222940	C0002876 Congenital dyserythropoietic anemia;

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