| - GRCh37:
- Chr9:74319561
- GRCh38:
- Chr9:71704645
| CEMIP2 | W1048*, W410*, W985* | Hypertelorism, Joint laxity, Inguinal hernia,
Abnormal sternum morphology, Myopia, Retinal dystrophy
| Pathogenic
(Jan 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:74349757
- GRCh38:
- Chr9:71734841
| CEMIP2 | C453Y | Hypertelorism, Joint laxity, Inguinal hernia,
Abnormal sternum morphology, Myopia, Retinal dystrophy
| Pathogenic
(Jan 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:165712409
- GRCh38:
- Chr1:165743172
| TMCO1 | R206*, R172*, R143* | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, Autism, Pulmonic stenosis,
Sensorineural hearing impairment, Abnormal sternum morphology, Cryptorchidism,
Scoliosis, Hemivertebrae, Strabismus,
Bilateral cleft palate, Delayed speech and language developmentRelative macrocephaly,
Rib fusion, Severely reduced visual acuity, Renal agenesis,
Global developmental delay, Cleft palate, Unilateral renal agenesis,
Bilateral cleft lip, Bilateral cleft lip and palate, See cases,
...see more | Pathogenic
(Dec 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33409095
- GRCh38:
- Chr6:33441318
| SYNGAP1, SYNGAP1-AS1 | R687* | High forehead, Abnormal sternum morphology, Delayed speech and language development,
Ptosis, Downslanted palpebral fissures, Triangular face,
Wide nasal bridge, Pointed chin, Motor delay,
Infantile muscular hypotonia, Bulbous tips of toesAtypical behavior,
Aggressive behavior, not provided, See cases,
Intellectual disability, autosomal dominant 5, ...see more | Pathogenic/Likely pathogenic
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:139586488-139586489
- GRCh38:
- ChrX:140504323-140504324
| SOX3 | | Intellectual disability, X-linked, with panhypopituitarism, not provided, Cognitive impairment,
Pectus excavatum, Acute myeloid leukemia, Abnormality of the tongue,
Pancytopenia, Short stature, Webbed neck,
Autism, Severely reduced visual acuityStrabismus,
Cryptorchidism, Abnormal sternum morphology, Bilateral cleft palate,
Cleft palate, Bilateral cleft lip, Relative macrocephaly,
Delayed speech and language development, Sensorineural hearing impairment, Renal agenesis,
Unilateral renal agenesis, Scoliosis, Hemivertebrae,
Pulmonic stenosis, Rib fusion, Global developmental delay,
Bilateral cleft lip and palate, ...see more | Conflicting interpretations of pathogenicity
(Aug 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:39250269
- GRCh38:
- Chr2:39023128
| SOS1 | G434R, G427R | Abnormal sternum morphology, Short stature, Pulmonic stenosis,
Ptosis, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype,
Fetal cystic hygroma, not provided, RASopathy,
Fibromatosis, gingival, 1, Noonan syndrome 4Noonan syndrome,
Noonan syndrome 1, Noonan syndrome 4, ...see more | Pathogenic/Likely pathogenic
(Jul 9, 2022) | criteria provided, multiple submitters, no conflicts |