| - GRCh37:
- Chr3:183882293
- GRCh38:
- Chr3:184164505
| DVL3 | G123R | Tented upper lip vermilion, Midface retrusion, Short toe,
Dental crowding, Short finger, Lumbar hyperlordosis,
Neurodevelopmental delay, Genu valgum, Anteverted nares,
Clinodactyly of the 5th finger, Short stature ...see more | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:151378740
- GRCh38:
- Chr1:151406264
| POGZ | P924fs, P829fs, P862fs, P871fs, P915fs | Hypertelorism, Generalized hypotonia, Sensorineural hearing impairment,
Abnormality of the nail, Severe global developmental delay, Strabismus,
Inability to walk by childhood/adolescence, Decreased lacrimation, Brachycephaly,
High palate, Hypoplasia of the corpus callosumAbsent speech,
Anteverted nares, Wide mouth, Seizure,
Microcephaly, Downturned corners of mouth, ...see more | Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:30366065-32899558
| ARHGAP11B, CHRFAM7A, CHRNA7, FAN1, GOLGA8H, GOLGA8J, GOLGA8N, GOLGA8O, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 | | Short attention span, Anteverted nares, Motor delay,
Ptosis, Generalized hypotonia, Neonatal hypotonia,
Broad-based gait, Pes valgus, EEG with generalized slow activity,
EEG with periodic abnormalities, Concave nasal ridgeMicroretrognathia,
Delayed speech and language development, ...see more | Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr9:140657274
- GRCh38:
- Chr9:137762822
| EHMT1 | V519A, V550A | Kleefstra syndrome 1, Schizophrenia, Global developmental delay,
Intellectual disability, Synophrys, Coarse facial features,
Anteverted nares | Pathogenic/Likely pathogenic
(Feb 19, 2015) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:121768433
- GRCh38:
- Chr6:121447287
| GJA1 | M147T | Cutaneous finger syndactyly, Intellectual disability, Anteverted nares,
Bilateral microphthalmos | Pathogenic
(Jul 2, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr18:53017640
- GRCh38:
- Chr18:55350409
| TCF4 | | Pitt-Hopkins syndrome, Anteverted nares, Epicanthus,
Global developmental delay, Feeding difficulties in infancy, Drooling,
Stereotypic movement disorder, Short nose | Pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| | | | Anteverted nares, Depressed nasal bridge, Low-set ears,
Prominent forehead, Macrocephaly, Long philtrum,
Short nose, Autistic behavior, Global developmental delay,
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 |
| | | | Microcephaly, Thin upper lip vermilion, Global developmental delay,
Upturned corners of mouth, Epicanthus, Anteverted nares,
Delayed speech and language development, Seizure, Micrognathia
| Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | 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 |
| | | | 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 |
| | | | Acanthosis nigricans, Macrotia, Abnormal facial shape,
Anteverted nares, Tapered finger, Abnormality of skin pigmentation,
Long ear, Hyperpigmentation of the skin, Abnormality of the dentition,
Gynecomastia, MacroorchidismDeeply set eye,
Obesity, Carious teeth, Global developmental delay,
...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:48270399
- GRCh38:
- Chr17:50193038
| COL1A1 | G593S | Bowing of limbs due to multiple fractures, Fractures of the long bones, Blue sclerae,
Broad forehead, Rhizomelia, Wide anterior fontanel,
Downslanted palpebral fissures, Flat occiput, Premature birth,
Abnormal pinna morphology, Cranial asymmetrySkeletal dysplasia,
Neonatal short-limb short stature, Pathologic fracture, Crumpled long bones,
Maternal hypertension, Osteopenia, Hypertelorism,
Generalized hypotonia, Low-set, posteriorly rotated ears, Neonatal asphyxia,
Triangular face, Anteverted nares, Depressed nasal bridge,
Wide cranial sutures, Craniofacial disproportion, Decreased calvarial ossification,
not provided, Abnormality of the skeletal system, ...see more | Pathogenic/Likely pathogenic
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |