| - GRCh37:
- Chr7:133848099-145814115
| ADCK2, AGBL3, AGK, AKR1B1, AKR1B10, AKR1B15, AKR1D1, ARHGEF35, ARHGEF5, ATP6V0A4, BPGM, BRAF, CALD1, CASP2, CHRM2, CLCN1, CLEC2L, CLEC5A, CNOT4, CNTNAP2, CREB3L2, CTAGE15, CTAGE4, CTAGE6, CTAGE8, CYREN, DENND11, DENND2A, DGKI, EPHA1, EPHB6, FAM131B, FAM180A, FMC1, FMC1-LUC7L2, GSTK1, IFT56, KDM7A, KEL, KIAA1549, KLRG2, LLCFC1, LRGUK, LUC7L2, LUZP6, MGAM, MKRN1, MRPS33, MTPN, MTRNR2L6, NDUFB2, NOBOX, NUP205, OR2A1, OR2A12, OR2A14, OR2A2, OR2A25, OR2A42, OR2A5, OR2A7, OR2F1, OR2F2, OR6B1, OR6V1, OR9A2, OR9A4, PARP12, PIP, PRSS1, PRSS37, PRSS58, PTN, RAB19, SLC13A4, SLC35B4, SLC37A3, SSBP1, STMP1, STRA8, SVOPL, TAS2R3, TAS2R38, TAS2R39, TAS2R4, TAS2R40, TAS2R41, TAS2R5, TAS2R60, TBXAS1, TCAF1, TCAF2, TMEM139, TMEM140, TMEM178B, TMEM213, TPK1, TRB, TRIM24, TRPV5, TRPV6, UBN2, WDR91, WEE2, ZC3HAV1, ZC3HAV1L, ZYX | | Small face, Global developmental delay, Hypertelorism,
Abnormal facial shape, Growth delay, Short finger,
Infantile muscular hypotonia, Wide mouth | Pathogenic
(Sep 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:115910972
- GRCh38:
- Chr10:114151213
| CCDC186 | S256* | Developmental stagnation, Microcephaly, Failure to thrive,
Seizure, Growth delay, EEG with spike-wave complexes,
Pulmonary valve stenosis, Severe global developmental delay, Relative macrocephaly,
Hypothyroidism | Pathogenic
(Mar 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33740481
- GRCh38:
- Chr6:33772704
| LEMD2 | S177F, S346F, S479F | Supernumerary tooth, Reduced bone mineral density, Deviated nasal septum,
Prominent superficial veins, Dental crowding, Thin skin,
Narrow mouth, Proptosis, Growth delay,
Microcephaly, Short claviclesTriangular face,
Lipoatrophy, Progeroid facial appearance, Multiple unerupted teeth,
Abnormal nasal dorsum morphology, Intention tremor, Short stature,
Micrognathia, ...see more | Likely pathogenic
(Mar 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:26913946
- GRCh38:
- Chr9:26913948
| PLAA | | Inborn genetic diseases, not provided, See cases,
Growth delay, Ectrodactyly, Lymphoproliferative disorder,
Global developmental delay, Lymphadenopathy, Combined immunodeficiency,
Microcephaly, Split foot ...see more | Conflicting interpretations of pathogenicity
(Dec 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17452385
- GRCh38:
- Chr11:17430838
| ABCC8 | R598Q, R597Q | Hypoglycemia, 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 |
| - GRCh37:
- Chr4:128608927
- GRCh38:
- Chr4:127687772
| INTU, LOC126807151 | A452T | not provided, not specified | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:134074410
- GRCh38:
- Chr9:131199023
| NUP214 | | Developmental delay, Growth delay, Congenital anomaly of face
| Likely pathogenic
(Aug 11, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr9:35794006
- GRCh38:
- Chr9:35794009
| NPR2 | E260V | Growth delay, Trident hand, Craniosynostosis syndrome,
Limb undergrowth | Likely pathogenic
(Jan 18, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr9:35805941-35805951
- GRCh38:
- Chr9:35805944-35805954
| NPR2 | S721fs, S724fs | Growth delay, Trident hand, Craniosynostosis syndrome,
Limb undergrowth | Likely pathogenic
(Jan 18, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr15:93486195
- GRCh38:
- Chr15:92942965
| CHD2 | I317V | CNS hypomyelination, Sparse and thin eyebrow, Microcephaly,
Secondary microcephaly, Hypoplasia of the corpus callosum, Growth delay,
Sparse scalp hair, Abnormal facial shape, Downturned corners of mouth,
Abnormal optic nerve morphology, Abnormal pinna morphology ...see more | Likely benign
(Jan 18, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:121685042
- GRCh38:
- Chr2:120927466
| GLI2 | G85A | CNS hypomyelination, Sparse and thin eyebrow, Microcephaly,
Secondary microcephaly, Hypoplasia of the corpus callosum, Growth delay,
Sparse scalp hair, Abnormal facial shape, Downturned corners of mouth,
Abnormal optic nerve morphology, Abnormal pinna morphology ...see more | Likely benign
(Jan 18, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr19:7591465
- GRCh38:
- Chr19:7526579
| MCOLN1 | Y126* | Atrophy/Degeneration affecting the brainstem, Periventricular leukomalacia, Intellectual disability,
Growth delay, Delayed speech and language development, Delayed myelination,
Corneal opacity | Likely pathogenic
(Jun 8, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr19:7592847
- GRCh38:
- Chr19:7527961
| MCOLN1 | | Atrophy/Degeneration affecting the brainstem, Periventricular leukomalacia, Intellectual disability,
Growth delay, Delayed speech and language development, Delayed myelination,
Corneal opacity | Likely pathogenic
(Jun 8, 2016) | no assertion criteria provided |
| | | | Mild global developmental delay, Hypoplasia of penis, Abnormal scrotal rugation,
Growth delay, Abnormality of the genitourinary system, Penile hypospadias
| Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Growth delay, Abnormal facial shape, Abnormal digit morphology,
Microcephaly, Intellectual disability, Short stature,
Heart murmur, Decreased body weight | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Growth delay, Microcephaly, Metatarsus adductus,
Lower limb asymmetry, Short stature, Failure to thrive,
Global developmental delay, Tibial torsion | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Intellectual disability, severe, Abnormal nervous system physiology, Growth delay,
EEG abnormality, Receptive language delay, Expressive language delay
| Likely pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Growth delay, Intellectual disability, Agitation,
Anxiety, Autistic behavior, Reduced bone mineral density,
Poor speech, Recurrent fractures | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Growth delay, Global developmental delay, Oral motor hypotonia,
Hypotonia | Likely pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Cerebral calcification, Thin upper lip vermilion, Growth delay,
Telecanthus, Global developmental delay, Short palpebral fissure,
Midface retrusion, Speech articulation difficulties, Epicanthus,
Wide nasal bridge, Abnormal facial shapeAnteverted nares,
Hyperactivity, ...see more | Likely pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | 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 |
| | | | Hypertelorism, Attention deficit hyperactivity disorder, Growth delay,
2-3 toe syndactyly, Absent speech, Low-set ears,
Short toe, Single transverse palmar crease, Short phalanx of finger,
Autistic behavior, MicrognathiaGlobal developmental delay,
Bilateral conductive hearing impairment, Somatic sensory dysfunction, ...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Growth delay, Abnormal facial shape, Receptive language delay,
Delayed gross motor development, Unilateral renal agenesis, Anxiety,
Missing ribs, Cryptorchidism, Autistic behavior,
Expressive language delay, SeizureFailure to thrive,
Global developmental delay, Dilatation of the sinus of Valsalva, Delayed fine motor development,
...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | 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 |
| | | | Microcephaly, Accelerated skeletal maturation, Multiple palmar creases,
Thin upper lip vermilion, Growth delay, Global developmental delay,
Broad hallux phalanx, Epicanthus, Strabismus,
Hypoplastic labia majora, Overlapping toeShort philtrum,
Abnormal facial shape, Broad thumb, Cafe-au-lait spot,
Depressed nasal bridge, Craniosynostosis syndrome, ...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Duane anomaly, Atrial septal defect, Growth delay,
Ventricular septal defect, Global developmental delay, Asthma,
Chronic constipation, Proximal muscle weakness in lower limbs, Cryptorchidism,
Scoliosis, Abnormality of cardiovascular system morphology ...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:1736004
- GRCh38:
- Chr1:1804565
| GNB1 | L95P | Hypotonia, not provided, Microcephaly
| Pathogenic/Likely pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:1737942
- GRCh38:
- Chr1:1806503
| GNB1 | I80N | Acute lymphoid leukemia, Intellectual disability, autosomal dominant 42, not provided
| Pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:1737948
- GRCh38:
- Chr1:1806509
| GNB1 | K78R | Inborn 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 |
| - GRCh37:
- Chr17:46024036
- GRCh38:
- Chr17:47946670
| PNPO | R225H | not provided, Neuronopathy, distal hereditary motor, type 5A, Pyridoxal phosphate-responsive seizures
| Pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:1737942
- GRCh38:
- Chr1:1806503
| GNB1 | I80T | Intellectual disability, autosomal dominant 42, Global developmental delay, Cerebral palsy,
Neurodevelopmental delay, Inborn genetic diseases, Intellectual disability,
Neurodevelopmental disorder, not provided | Pathogenic/Likely pathogenic
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:43014071
- GRCh38:
- Chr6:43046333
| CUL7 | K855E, K887E | not provided, 3M syndrome 1, Growth delay,
Short stature | Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17426099
- GRCh38:
- Chr11:17404552
| ABCC8 | V1173M, V1174M, V1172M, V1195M | Atrial 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 |
| - GRCh37:
- Chr4:1803564
- GRCh38:
- Chr4:1801837
| FGFR3 | R248C | Connective tissue disorder, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1,
Thanatophoric dysplasia, type 2, Carcinoma of colon, Achondroplasia,
Cervix cancer, Levy-Hollister syndrome, Malignant tumor of urinary bladder,
Epidermal nevus, Crouzon syndrome-acanthosis nigricans syndromeMuenke syndrome,
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Malignant tumor of testis, Hypochondroplasia,
FGFR3-related chondrodysplasia, FGFR3-related disorder, not provided,
Cervix cancer, Achondroplasia, Thanatophoric dysplasia type 1,
Hamartoma, Skeletal dysplasia, Growth delay,
Short stature, Disproportionate short-limb short stature, Lethal short-limbed short stature,
Lower limb undergrowth, Upper limb undergrowth, Bowed humerus,
Femoral bowing, Small for gestational age, Bell-shaped thorax,
Short ribs, Narrow chest, ...see more | Pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |