ClinVar Miner

List of variants studied for obesity due to melanocortin 4 receptor deficiency by Department of Paediatrics, National University Hospital

Included ClinVar conditions (44):

Acanthosis nigricans; Obesity; Brachydactyly; Skeletal dysplasia; Insulin resistance; Short stature; Self-injurious behavior; Renal hypoplasia; Abnormal facial shape; Abnormality of the dentition; Hepatic steatosis; Lumbar hyperlordosis; Hyperlipidemia; Short metacarpal; Intellectual disability, severe
Acanthosis nigricans; Obesity; Global developmental delay; Abnormality of skin pigmentation; Tapered finger; Deeply set eye; Macrotia; Abnormal facial shape; Anteverted nares; Macroorchidism; Abnormality of the dentition; Carious teeth; Gynecomastia; Hyperpigmentation of the skin; Long ear
Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Obesity; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome
Autism; Obesity
Cardiac arrhythmia; Obesity; Hearing impairment; Trigonocephaly; Sleep apnea; Broad eyebrow; Midface retrusion
Hypogonadotropic hypogonadism 7 with or without anosmia; Obesity; Downslanted palpebral fissures; Narrow forehead; Round face; Specific learning disability; Micropenis; Rod-cone dystrophy; Postaxial hand polydactyly; Flat nasal alae
Large congenital melanocytic nevus; Obesity; Atypical behavior; Scoliosis; Abnormal facial shape; Hyperpigmentation of the skin; Neonatal hypotonia; Hypoplastic toenails; Short toe; Long foot; Poor suck; Increased intracranial pressure; Accelerated skeletal maturation
Migraine; Obesity; Short attention span; Muscle weakness; Headache; Nephrolithiasis; Striae distensae; Ectopic ossification; Asthma
Obesity
Obesity due to melanocortin 4 receptor deficiency
Obesity due to pro-opiomelanocortin deficiency; Obesity
Obesity; Abnormality of skin pigmentation
Obesity; Brachycephaly; Single transverse palmar crease; Large for gestational age; Short foot; Mild global developmental delay; Small hand
Obesity; Brachydactyly; Short stature; Cognitive impairment; Hypocalcemia; Round face; Tetany; Subcutaneous nodule
Obesity; Brachydactyly; Short stature; Pigmentary retinopathy; Intellectual disability; Abnormal speech pattern
Obesity; Delayed speech and language development; Narrow mouth
Obesity; Epistaxis; Abnormal facial shape; Numerous pigmented freckles; Abnormal platelet function; Abnormal platelet morphology; Increased mean platelet volume; Abnormal platelet shape; Thrombocytopenia; Hypertensive disorder
Obesity; Failure to thrive; Abnormal foot morphology; Intellectual disability; Impulsivity
Obesity; Generalized-onset seizure; Mild global developmental delay
Obesity; Global developmental delay
Obesity; Global developmental delay; Abnormal facial shape
Obesity; Global developmental delay; Atypical behavior; Abnormal facial shape; Skin rash; Pustule; Attention deficit hyperactivity disorder; Erythematous papule
Obesity; Global developmental delay; Autistic behavior; Seizure; Myopia; Strabismus
Obesity; Global developmental delay; Generalized epilepsy
Obesity; Global developmental delay; Motor delay; Feeding difficulties; Polyhydramnios; Delayed speech and language development; Short philtrum; Neonatal hypotonia; Downturned corners of mouth; Acromesomelia; Lipedema
Obesity; Global developmental delay; Seizure; Microcephaly
Obesity; Global developmental delay; Seizure; Short stature; Genu valgum; Deeply set eye; Dysarthria; Delayed speech and language development; Specific learning disability; Broad face; Prominent nasal bridge; Strabismus; Diastema; Swan neck-like deformities of the fingers; Metatarsus valgus; Increased overbite
Obesity; Global developmental delay; Short phalanx of finger; Hypermetropia; Sandal gap
Obesity; Global developmental delay; Specific learning disability; Macrocephaly; Optic disc pallor; Large for gestational age
Obesity; Global developmental delay; Upslanted palpebral fissure; Macrotia; Macrocephaly
Obesity; Hypothyroidism; Immunodeficiency; Severe T-cell immunodeficiency; Protruding tongue
Obesity; Malar flattening; Mandibular prognathia; Delayed speech and language development; Thin upper lip vermilion; Tooth malposition; Poor fine motor coordination; Infantile muscular hypotonia; Attention deficit hyperactivity disorder
Obesity; Motor delay; Autistic behavior; Atypical behavior; Delayed speech and language development; Compulsive behaviors
Obesity; Motor delay; Self-injurious behavior; Sleep abnormality; Depression; Overgrowth; Delayed speech and language development; Macrocephaly; Emotional lability; Agitation; Anxiety; Sleep apnea; Mild global developmental delay
Obesity; Motor delay; Short stature; Upslanted palpebral fissure; Frequent falls; Delayed speech and language development; Thin upper lip vermilion; Intellectual disability, mild; Bilateral tonic-clonic seizure; Generalized myoclonic seizure; Clumsiness; Developmental regression; Unilateral ptosis; High myopia; Interictal epileptiform activity; Camptodactyly of finger
Obesity; Neurodevelopmental delay
Obesity; Prolonged QT interval
Obesity; Seizure; Intellectual disability
Obesity; Sleep abnormality; Pes planus; Delayed speech and language development; Horizontal nystagmus; Gynecomastia; Generalized hypotonia; Poor motor coordination; Difficulty walking; Hypotonia
Obesity; Tetralogy of Fallot; Short stature; Abnormal cardiovascular system morphology; Abnormal facial shape; Intellectual disability
Obesity; intellectual deficiency
Obstructive sleep apnea syndrome; Obesity; Cardiomyopathy; Glaucoma; Muscle weakness; Specific learning disability; Panhypopituitarism; Generalized hypotonia; Gastroesophageal reflux; Limb-girdle muscle weakness
PPARG-related familial partial lipodystrophy; Carotid intimal medial thickness 1; Type 2 diabetes mellitus; Obesity
Type 2 diabetes mellitus; Obesity; Hyperlipidemia; Diabetes mellitus; Hypertensive disorder; Class III obesity

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005912.3(MC4R):c.127C>A (p.Gln43Lys)
NM_005912.3(MC4R):c.272T>G (p.Met91Arg)
NM_019888.3(MC3R):c.151G>C (p.Val51Leu)

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