| - GRCh37:
- Chr2:121747325
- GRCh38:
- Chr2:120989749
| GLI2 | H1137Y, H1262Y, H1279Y | Facial asymmetry, Pericallosal lipoma, Skin tags,
Upper eyelid coloboma, Hypertelorism, Abnormal frontal bone morphology,
Low-set ears, Facial cleft, Congenital cleft nose,
Limbal dermoid | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr15:30943903-32510863
| CHRNA7, FAN1, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 | | Facial asymmetry | Pathogenic
(Oct 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:127610307
- GRCh38:
- Chr5:128274615
| FBN2 | T2555A | Single transverse palmar crease, Short stature, Facial asymmetry,
Decreased body weight, Strabismus, Global developmental delay,
Ventricular septal defect | Uncertain significance
(Oct 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:94033861
- GRCh38:
- Chr7:94404549
| COL1A2 | | Ehlers-Danlos syndrome, classic type, 1, Osteogenesis imperfecta type I, Single transverse palmar crease,
Short stature, Facial asymmetry, Decreased body weight,
Strabismus, Global developmental delay, Ventricular septal defect
| Conflicting interpretations of pathogenicity
(Mar 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128497157-128497247
- GRCh38:
- Chr7:128857103-128857193
| FLNC, FLNC-AS1 | | Patent foramen ovale, Episodic vomiting, Abnormal ventricular septum morphology,
Facial asymmetry, Asymmetry of the thorax, Two-raphe bicuspid aortic valve,
Abnormal morphology of left ventricular trabeculae | Pathogenic
(Dec 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68058460-68059931
| EFNB1 | | Frontal bossing, Hypertelorism, Facial asymmetry
| Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:178921589
- GRCh38:
- Chr3:179203801
| PIK3CA | | Cowden syndrome, Hemimegalencephaly, Overgrowth,
Facial asymmetry | Conflicting interpretations of pathogenicity
(Jul 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:11101938
- GRCh38:
- Chr19:10991262
| SMARCA4 | T453I | Rhabdoid tumor predisposition syndrome 2, Intellectual disability, autosomal dominant 16, Ventricular septal defect,
Global developmental delay, Facial asymmetry, Strabismus,
Single transverse palmar crease | Conflicting interpretations of pathogenicity
(Jul 15, 2021) | criteria provided, conflicting interpretations |
| | | | Isolated Pierre-Robin syndrome, Hypoplasia of deltoid muscle, Retrognathia,
Feeding difficulties, Cleft soft palate, Global developmental delay,
Pectus carinatum, Hypoplastic scapulae, Abnormality of the costochondral junction,
Microretrognathia, Facial asymmetryAbnormal occipital bone morphology,
Neonatal hypotonia, Open mouth, ...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Facial asymmetry, Delayed speech and language development, Motor delay,
Abnormal emotion/affect behavior, Short attention span, Intellectual disability, mild,
Severe global developmental delay, Abducens nerve disorder, Few cafe-au-lait spots
| Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Male infertility, Oligospermia, Delayed fine motor development,
Monocular strabismus, Varicocele, Aphasia,
Facial asymmetry, Syndactyly, Azoospermia,
Microtia, Abnormal facial shapeDelayed speech and language development,
Attention deficit hyperactivity disorder, Visual impairment, Upslanted palpebral fissure,
...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Mild global developmental delay, Delayed speech and language development, Abnormal skull morphology,
Enuresis, Motor delay, Cleft upper lip,
Heart murmur, Anxiety, Facial asymmetry,
Intellectual disability, mild | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Increased mean corpuscular volume, Unsteady gait, Overgrowth,
Inguinal hernia, Behavioral abnormality, Scoliosis,
Esotropia, Ventricular septal defect, Corpus callosum, agenesis of,
Epicanthal fold, HydrocephalusGait imbalance,
Global developmental delay, Hemihypertrophy, Metopic synostosis,
Poor head control, Facial asymmetry, Abnormal facial shape,
Cortical dysplasia, High, narrow palate, Poor motor coordination,
Chiari malformation, Attention deficit hyperactivity disorder, Asthma,
Heart murmur, ...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Atrial septal defect, ostium secundum type, Receptive language delay, Constipation,
Tapered finger, Expressive language delay, Short stature,
Enuresis, Feeding difficulties, Increased red blood cell mass,
Poor suck, Global developmental delayAbnormal facial skeleton morphology,
Tics, Facial asymmetry, Specific learning disability,
Clinodactyly of the 5th finger, Delayed skeletal maturation, Attention deficit hyperactivity disorder,
Proportionate shortening of all digits, ...see more | Likely pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1803571
- GRCh38:
- Chr4:1801844
| FGFR3 | P250R | Inborn genetic diseases, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome,
Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome,
Germ cell tumor of testis, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Epidermal nevus,
Malignant tumor of urinary bladder, Muenke syndromeCancer of cervix,
Colorectal cancer, Levy-Hollister syndrome, Hypochondroplasia,
FGFR3-related chondrodysplasia, Crouzon syndrome, Coronal craniosynostosis,
Generalized non-motor (absence) seizure, Seizure, Infantile axial hypotonia,
Unilateral renal agenesis, Facial asymmetry, Craniosynostosis syndrome,
not provided, Hypochondroplasia, Muenke syndrome,
Achondroplasia, Abnormality of the nervous system, ...see more | Pathogenic/Likely pathogenic
(Dec 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:123276877
- GRCh38:
- Chr10:121517363
| FGFR2 | S347C, S258C, S232C, S119C | Shallow orbits, Low-set ears, Hydrocephalus,
Hypointensity of cerebral white matter on MRI, Deviated nasal septum, Abnormal posterior cranial fossa morphology,
Brachyturricephaly, Wide anterior fontanel, Facial asymmetry,
Downslanted palpebral fissures, Flat occiputNarrow forehead,
High forehead, Abnormal zygomatic bone morphology, Cranial asymmetry,
High palate, Mild fetal ventriculomegaly, Hypertelorism,
Lateral ventricle dilatation, Choanal stenosis, Short neck,
Abnormal pinna morphology, FGFR2-related craniosynostosis, not provided,
Crouzon syndrome, Pfeiffer syndrome, ...see more | Pathogenic/Likely pathogenic
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |