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Items: 51

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:32320089
GRCh38:
Chr10:32031161
KIF5BL498PFeeding difficulties, Intellectual disability, Severe muscular hypotonia,
Fatigable weakness of swallowing muscles
Pathogeniccriteria provided, single submitter
2.
GRCh37:
Chr17:48153781
GRCh38:
Chr17:50076417
ITGA3R589PPidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, Anemia, Penoscrotal transposition,
Bronchopulmonary dysplasia of newborn, Feeding difficulties, Eczema,
Phimosis, Gastroesophageal reflux, Respiratory failure
Uncertain significance
(Dec 14, 2021)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr1:11894424
GRCh38:
Chr1:11834367
CLCN6Y531C, Y553CNeurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities, Hypotonia, Global developmental delay,
Motor delay, Abnormality of the respiratory system, Abnormality of vision,
Abnormality of movement, Abnormality of speech or vocalization, EEG abnormality,
Feeding difficulties, Neurogenic bladderAbnormality of temperature regulation,
Abnormality of the skin, ...see more
Conflicting interpretations of pathogenicity
(Apr 28, 2021)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr15:83349398
GRCh38:
Chr15:82680646
AP3B2, CPEB1-AS1K262T, K294TAbnormality of eye movement, Delayed speech and language development, Autism,
Microcephaly, Global developmental delay, Gastroesophageal reflux,
Abnormality of speech or vocalization, Generalized hypotonia, Hypotonia,
Feeding difficulties, Developmental and epileptic encephalopathy, 48not provided,
...see more
Uncertain significance
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr14:36143795
GRCh38:
Chr14:35674589
RALGAPA1N1535S, N1582S, N1076S, N1089S, N1123SInfantile spasms, Respiratory distress, Feeding difficulties,
Generalized hypotonia
Pathogenic
(Sep 24, 2019)
criteria provided, single submitter
6.
GRCh37:
Chr14:36041884
GRCh38:
Chr14:35572678
RALGAPA1S1911*, S1958*, S2370*, S1924*, S2417*Infantile spasms, Respiratory distress, Feeding difficulties,
Generalized hypotonia
Pathogenic
(Sep 24, 2019)
criteria provided, single submitter
7.
GRCh37:
Chr14:36226052
GRCh38:
Chr14:35756846
RALGAPA1E204*Infantile spasms, Respiratory distress, Feeding difficulties,
Generalized hypotonia
Pathogenic
(Sep 24, 2019)
criteria provided, single submitter
8.
GRCh37:
Chr14:36096643
GRCh38:
Chr14:35627437
RALGAPA1F1711fs, F2123fs, F2170fs, F1664fs, F1677fsInfantile spasms, Respiratory distress, Feeding difficulties,
Generalized hypotonia
Pathogenic
(Sep 24, 2019)
criteria provided, single submitter
9.
GRCh37:
Chr14:36217916
GRCh38:
Chr14:35748710
RALGAPA1R376*Infantile spasms, Respiratory distress, Feeding difficulties,
Generalized hypotonia
Pathogenic
(Sep 24, 2019)
criteria provided, single submitter
10.
GRCh37:
Chr14:35649901-35649902
GRCh38:
Chr14:35180695-35180696
PRORP, PRORP-PSMA6S28fs, S400fs, S305fs, S384fsCombined oxidative phosphorylation deficiency 54, Childhood onset sensorineural hearing impairment, Lactic acidosis,
Leukoencephalopathy, Persistent lactic acidosis, Diffuse white matter abnormalities,
Feeding difficulties, Global developmental delay, Hypertonia,
Microcephaly
Pathogenic/Likely pathogenic
(Feb 8, 2022)
no assertion criteria provided
11.
GRCh37:
Chr14:35735991
GRCh38:
Chr14:35266785
PRORP, PRORP-PSMA6R445Q, R350Q, R429Q, R73QCombined oxidative phosphorylation deficiency 54, Childhood onset sensorineural hearing impairment, Lactic acidosis,
Leukoencephalopathy, Persistent lactic acidosis, Diffuse white matter abnormalities,
Feeding difficulties, Global developmental delay, Hypertonia,
Microcephaly
Pathogenic/Likely pathogenic
(Feb 8, 2022)
no assertion criteria provided
12.
GRCh37:
Chr8:38027316
GRCh38:
Chr8:38169798
LSM1Hydroureter, Generalized hypotonia, Penile hypospadias,
Neurodevelopmental delay, Cryptorchidism, Constipation,
Triphalangeal thumb, Oligohydramnios, Inguinal hernia,
Feeding difficulties, Fetal pyelectasisPatent ductus arteriosus after premature birth,
Perimembranous ventricular septal defect, Hemivertebrae, Abnormal facial shape,
Strabismus, Intellectual disability, Mitral stenosis,
Bicuspid aortic valve, Complex neurodevelopmental disorder, ...see more
Uncertain significance
(May 28, 2020)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr4:6303521
GRCh38:
Chr4:6301794
WFS1Q667*Feeding difficulties, Abnormality of the vertebral column, Microglossia,
Nyctalopia, Hydroureter, Arachnodactyly,
Small hand, Sensorineural hearing impairment, Dandy-Walker syndrome,
Micrognathia, HydronephrosisCongenital laryngomalacia,
Cleft palate, Cerebellar vermis hypoplasia, Global developmental delay,
Diaphragmatic eventration, Duane anomaly, Abnormality of the diaphragm,
Abnormality of the cervical spine, Inborn genetic diseases, not provided,
...see more
Pathogenic/Likely pathogenic
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr2:241686664
GRCh38:
Chr2:240747247
KIF1AH917Y, H1018Y, H951Y, H926Y, H1001Y, H1009Y, H1043Y, H942YInborn genetic diseases, Congenital laryngomalacia, Cerebellar vermis hypoplasia,
Sensorineural hearing impairment, Nyctalopia, Diaphragmatic eventration,
Dandy-Walker syndrome, Arachnodactyly, Abnormality of the cervical spine,
Abnormality of the diaphragm, Small handGlobal developmental delay,
Cleft palate, Micrognathia, Hydronephrosis,
Feeding difficulties, Abnormality of the vertebral column, Microglossia,
Hydroureter, Duane anomaly, ...see more
Uncertain significance
(Jan 6, 2021)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr2:175689207
GRCh38:
Chr2:174824479
CHN1A223T, A98T, A197T, A240TCongenital laryngomalacia, Cerebellar vermis hypoplasia, Sensorineural hearing impairment,
Nyctalopia, Diaphragmatic eventration, Dandy-Walker syndrome,
Arachnodactyly, Abnormality of the cervical spine, Abnormality of the diaphragm,
Small hand, Global developmental delayCleft palate,
Micrognathia, Hydronephrosis, Feeding difficulties,
Abnormality of the vertebral column, Microglossia, Hydroureter,
Duane anomaly, See cases, ...see more
Likely pathogenic
(Dec 21, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr1:152286818
GRCh38:
Chr1:152314342
FLG, FLG-AS1K182*Feeding difficulties, Microcephaly, Congenital cerebellar hypoplasia,
Ichthyosis, Paroxysmal dystonia, Abnormality of the skin,
Dry skin, Abnormality of salivation
Pathogenic
(Jan 1, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr11:17452385
GRCh38:
Chr11:17430838
ABCC8R598Q, R597QHypoglycemia, Macrotia, Growth delay,
Neonatal respiratory distress, Feeding difficulties, Short stature,
Congestive heart failure, Small for gestational age, Macrocephaly,
Cardiac shunt, Gastroesophageal refluxAtrial septal defect,
...see more
Likely pathogenic
(Jan 1, 2017)
criteria provided, single submitter
18.
GRCh37:
Chr22:18894835-20311763
Velopharyngeal insufficiency, Abnormal soft palate morphology, Ectopic thymus tissue,
Vomiting, Feeding difficulties, Speech articulation difficulties,
Inguinal hernia, Astigmatism, Umbilical hernia
Pathogenic
(Jan 1, 2017)
criteria provided, single submitter
19.
GRCh37:
Chr1:12019879-12028775
PLOD1Hypoplasia of scrotum, Bilateral cryptorchidism, Short chin,
Feeding difficulties, Joint hypermobility, Generalized neonatal hypotonia
Pathogenic
(Jan 1, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr9:95481289-95481291
GRCh38:
Chr9:92719007-92719009
BICD2N546delOpen mouth, Muscle weakness, Macrocephaly,
Skeletal muscle atrophy, EEG abnormality, Tapered finger,
Seizure, Feeding difficulties, Decreased fetal movement,
Downturned corners of mouth, Recurrent fracturesArthrogryposis multiplex congenita,
Cerebral cortical atrophy, Absent speech, not provided,
Inborn genetic diseases, ...see more
Pathogenic/Likely pathogenic
(Aug 10, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:12025628
GRCh38:
Chr1:11965571
PLOD1W521*, W568*Narrow chest, Neonatal hypotonia, Umbilical hernia,
Severe global developmental delay, Hydrocephalus, Dolichocephaly,
Macrocephaly at birth, Porencephalic cyst, Generalized neonatal hypotonia,
Bilateral cryptorchidism, Joint hypermobilityShort chin,
Hypoplasia of scrotum, Feeding difficulties, Generalized hypotonia,
Joint hypermobility, Depressed nasal bridge, High palate,
Thoracolumbar scoliosis, Congenital omphalocele, ...see more
Pathogenic
(Jan 1, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr22:41531907
GRCh38:
Chr22:41135903
EP300Q540RAbnormal thumb morphology, Global developmental delay, Micrognathia,
Feeding difficulties, Facial grimacing
Likely benign
(Aug 26, 2015)
criteria provided, single submitter
23.
Microcephaly, Psychosis, Attention deficit hyperactivity disorder,
Poor speech, High, narrow palate, Chronic diarrhea,
Intention tremor, Brisk reflexes, Severe failure to thrive,
Inflexible adherence to routines, Thin upper lip vermilionStereotypic movement disorder,
Global developmental delay, Oligohydramnios, Hypotonia,
Anteverted ears, Abnormal emotion/affect behavior, Tics,
Prominent nasal bridge, Protruding ear, Short philtrum,
Specific learning disability, Abnormal facial shape, Delayed speech and language development,
Downslanted palpebral fissures, Feeding difficulties in infancy, Brachycephaly,
Autistic behavior, Atypical behavior, Feeding difficulties,
...see more
Pathogenic
(Aug 20, 2016)
criteria provided, single submitter
24.
Cleft soft palate, Retrognathia, Feeding difficulties,
Neonatal hypotonia, Open mouth, Pectus carinatum,
Hypoplastic scapulae, Abnormality of the costochondral junction, Microretrognathia,
Facial asymmetry, Isolated Pierre-Robin syndromeGlobal developmental delay,
Abnormal occipital bone morphology, Hypoplasia of deltoid muscle, ...see more
Uncertain significance
(Aug 20, 2016)
criteria provided, single submitter
25.
Failure to thrive, Feeding difficulties, Small for gestational age
Uncertain significance
(Aug 20, 2016)
criteria provided, single submitter
26.
Ankle flexion contracture, Reduced visual acuity, Generalized non-motor (absence) seizure,
Preaxial hand polydactyly, Broad toe, Decreased fetal movement,
Impaired social interactions, Tracheomalacia, Stereotypic movement disorder,
Optic nerve hypoplasia, Thick vermilion borderHypoplastic helices,
1-2 finger syndactyly, Intellectual disability, severe, Severe global developmental delay,
Gastrostomy tube feeding in infancy, Epicanthus, Abnormality of eye movement,
Short philtrum, Abnormal facial shape, Delayed speech and language development,
Depressed nasal bridge, Downslanted palpebral fissures, Tall stature,
Nystagmus, Micrognathia, Posteriorly rotated ears,
Hearing impairment, Feeding difficulties, ...see more
Uncertain significance
(Aug 20, 2016)
criteria provided, single submitter
27.
Delayed speech and language development, Feeding difficulties, Neonatal hypotonia,
Short philtrum, Obesity, Motor delay,
Global developmental delay, Polyhydramnios, Lipedema,
Acromesomelia, Downturned corners of mouth ...see more
Pathogenic
(Aug 20, 2016)
criteria provided, single submitter
28.
Attention deficit hyperactivity disorder, Cafe-au-lait spot, Delayed speech and language development,
Feeding difficulties, Oppositional defiant disorder, Motor delay,
Autistic behavior, Global developmental delay, Abnormal emotion/affect behavior
Uncertain significance
(Aug 20, 2016)
criteria provided, single submitter
29.
Growth delay, Microtia, Aspiration,
Feeding difficulties, Abnormal renal cortex morphology, Abnormality of the larynx,
High forehead, Incomplete partition of the cochlea type II, Failure to thrive,
Micrognathia, Global developmental delayMorphological abnormality of the semicircular canal,
Profound sensorineural hearing impairment, Premature thelarche, Abnormal hair pattern,
...see more
Pathogenic
(Aug 20, 2016)
criteria provided, single submitter
30.
Abnormal facial shape, Delayed speech and language development, Upslanted palpebral fissure,
Feeding difficulties, Prominent forehead, Hypoplastic toenails,
Thin upper lip vermilion, Long eyelashes, Single transverse palmar crease,
Expressive language delay, Short statureFailure to thrive,
Global developmental delay, Decreased body weight, Persistent open anterior fontanelle,
Relative macrocephaly, Clinodactyly of the 5th toe, ...see more
Likely pathogenic
(Aug 20, 2016)
criteria provided, single submitter
31.
Hypotonia, Tachypnea, Talipes,
Muscular dystrophy, Congenital diaphragmatic hernia, Constipation,
Sparse and thin eyebrow, Protruding ear, Specific learning disability,
Hip dislocation, Abnormal facial shapeAnteverted nares,
Downslanted palpebral fissures, Eczema, High palate,
Short chin, Feeding difficulties, Seizure,
Abnormality of mouth shape, ...see more
Pathogenic
(Aug 20, 2016)
criteria provided, single submitter
32.
Hypertelorism, Keloid formation, Inversion of nipple,
Wide nasal bridge, Anteverted nares, Cafe-au-lait spot,
Conductive hearing impairment, Decreased testicular size, Delayed speech and language development,
EEG abnormality, Feeding difficultiesSmall scrotum,
Thin upper lip vermilion, Recurrent otitis media, Vomiting,
Seizure, Finger clinodactyly, Global developmental delay,
Hypotonia, Clinodactyly of the 3rd toe, Downturned corners of mouth,
...see more
Pathogenic
(Aug 20, 2016)
criteria provided, single submitter
33.
Attention deficit hyperactivity disorder, Proportionate shortening of all digits, Delayed skeletal maturation,
Increased red blood cell mass, Poor suck, Facial asymmetry,
Secundum atrial septal defect, Global developmental delay, Tics,
Abnormal facial skeleton morphology, Receptive language delayConstipation,
Specific learning disability, Clinodactyly of the 5th finger, Tapered finger,
Expressive language delay, Enuresis, Short stature,
Feeding difficulties, ...see more
Likely pathogenic
(Aug 20, 2016)
criteria provided, single submitter
34.
Upper limb spasticity, Deeply set eye, Episodic abdominal pain,
Generalized myoclonic seizure, Lower limb spasticity, Decreased activity of mitochondrial complex III,
Agitation, Nephrolithiasis, Reduced eye contact,
Panhypopituitarism, Narrow mouthMalar flattening,
Pointed chin, Brachycephaly, Failure to thrive,
Weight loss, Feeding difficulties, Limb joint contracture,
Growth delay, Prominent forehead, Severe global developmental delay,
...see more
Pathogenic
(Aug 20, 2016)
criteria provided, single submitter
35.
Abnormal earlobe morphology, Hypotonia, Epicanthus,
Scoliosis, Feeding difficulties
Uncertain significance
(Aug 20, 2016)
criteria provided, single submitter
36.
Brachycephaly, Visual impairment, Feeding difficulties,
Midface retrusion, Microcephaly, Intellectual disability,
Short lingual frenulum, Epiblepharon of lower lid, Recurrent hand flapping,
Global developmental delay, HypotoniaComplete duplication of thumb phalanx,
Retinal dysplasia, Acromesomelia, Supraventricular tachycardia,
Downturned corners of mouth, ...see more
Pathogenic
(Aug 20, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr6:41555193
GRCh38:
Chr6:41587455
FOXP4L270fs, L272fs, L271fsLaryngeal hypoplasia, Global developmental delay, Feeding difficulties,
Ventricular septal defect
Likely pathogenic
(Jan 10, 2016)
no assertion criteria provided
38.
GRCh37:
Chr1:1736004
GRCh38:
Chr1:1804565
GNB1L95PHypotonia, not provided, Microcephaly
Pathogenic/Likely pathogenic
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr1:1737942
GRCh38:
Chr1:1806503
GNB1I80NAcute lymphoid leukemia, Intellectual disability, autosomal dominant 42, not provided
Pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:1737948
GRCh38:
Chr1:1806509
GNB1K78RInborn genetic diseases, not provided, Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome,
Intellectual disability, autosomal dominant 42
Pathogenic/Likely pathogenic
(Mar 20, 2023)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr21:38868551-38868552
GRCh38:
Chr21:37496249-37496250
DYRK1AR375fs, R413fs, R404fsIntellectual disabilityPathogenic
(Sep 10, 2020)
criteria provided, single submitter
42.
GRCh37:
Chr21:38862655-38862656
GRCh38:
Chr21:37490353-37490354
DYRK1AS244fs, S282fs, S273fsDeeply set eye, Seizure, Feeding difficulties,
Microcephaly, Intellectual disability, Absent or delayed speech development
Pathogenic
(Sep 9, 2014)
no assertion criteria provided
43.
GRCh37:
Chr21:38877655
GRCh38:
Chr21:37505352
DYRK1AR437*, R428*, R399*Inborn genetic diseases, not provided, DYRK1A-related intellectual disability syndrome
Pathogenic
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr21:38007970-39747620
Deeply set eye, Seizure, Feeding difficulties,
Microcephaly, Intellectual disability, Absent or delayed speech development
Pathogenic
(Sep 9, 2014)
no assertion criteria provided
45.
GRCh37:
Chr21:38862753-38862754
GRCh38:
Chr21:37490451-37490452
DYRK1AQ316fs, Q278fs, Q307fsDeeply set eye, Seizure, Feeding difficulties,
Microcephaly, Intellectual disability, Absent or delayed speech development
Pathogenic
(Sep 9, 2014)
no assertion criteria provided
46.
GRCh37:
Chr21:38865403
GRCh38:
Chr21:37493101
DYRK1AS346P, S308P, S337PDeeply set eye, Seizure, Feeding difficulties,
Microcephaly, Intellectual disability, Absent or delayed speech development
Likely pathogenic
(Sep 9, 2014)
no assertion criteria provided
47.
GRCh37:
Chr21:38858873-38858876
GRCh38:
Chr21:37486571-37486574
DYRK1AE208fs, E170fs, E199fsIntellectual disabilityPathogenic
(Jul 25, 2014)
criteria provided, single submitter
48.
GRCh37:
Chr21:38858865
GRCh38:
Chr21:37486563
DYRK1AR205*, R196*, R167*Inborn genetic diseases, not provided, DYRK1A-related intellectual disability syndrome,
Intellectual disability
Pathogenic
(May 2, 2023)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr21:38862575
GRCh38:
Chr21:37490273
DYRK1AR255*, R217*, R246*not provided, DYRK1A-related intellectual disability syndrome, Autism spectrum disorder
Pathogenic
(Apr 8, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr11:17426099
GRCh38:
Chr11:17404552
ABCC8V1173M, V1174M, V1172M, V1195MAtrial septal defect, Growth delay, Feeding difficulties,
Macrocephaly, Short stature, Hypoglycemia,
Small for gestational age, Macrotia, Congestive heart failure,
Cardiac shunt, Gastroesophageal refluxNeonatal respiratory distress,
Transitory neonatal diabetes mellitus, Monogenic diabetes, not specified,
Maturity onset diabetes mellitus in young, Permanent neonatal diabetes mellitus, ...see more
Conflicting interpretations of pathogenicity
(May 4, 2023)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr20:31021211
GRCh38:
Chr20:32433408
ASXL1R404*, R343*dystrophia, Developmental delay, not provided,
Myelodysplastic syndrome, Bohring-Opitz syndrome, Global developmental delay,
Delayed gross motor development, Delayed speech and language development, Hypertrichosis,
Glabellar hemangioma, Feeding difficultiesAbnormal corpus callosum morphology,
Prominent metopic ridge, Intellectual disability, severe, Small for gestational age,
...see more
Pathogenic
(Apr 20, 2023)
criteria provided, multiple submitters, no conflicts
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