| - GRCh37:
- Chr17:8422204
- GRCh38:
- Chr17:8518886
| MYH10 | R749*, R758*, R759*, R780* | Macrotia, Macrocephaly, Obesity,
Global developmental delay, Upslanted palpebral fissure | Uncertain significance
(Sep 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:131484039-132998360
| SLC22A4, LEAP2, SHROOM1, CCNI2, UQCRQ, FSTL4, IL4, KIF3A, HSPA4, PDLIM4, P4HA2, SLC22A5, SEPTIN8, IL13, SOWAHA, ZCCHC10, IRF1, IL5, AFF4, RAD50, GDF9 | | Blepharophimosis, Narrow mouth, Upslanted palpebral fissure,
Clinodactyly of the 5th finger, Delayed speech and language development, Short philtrum
| Uncertain significance
(Jun 1, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr6:50805696
- GRCh38:
- Chr6:50837983
| TFAP2B | S277W | Char syndrome, Bifid nasal tip, Hypertelorism,
Upslanted palpebral fissure, Clinodactyly of the 5th finger, Opacification of the corneal stroma
| Uncertain significance
(Nov 19, 2021) | criteria provided, multiple submitters, no conflicts |
| | | | High myopia, Unilateral ptosis, Delayed speech and language development,
Frequent falls, Motor delay, Short stature,
Upslanted palpebral fissure, Camptodactyly of finger, Interictal epileptiform activity,
Obesity, ClumsinessDevelopmental regression,
Intellectual disability, mild, Bilateral tonic-clonic seizure, Generalized myoclonic seizure,
Thin upper lip vermilion, ...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Hypertelorism, Blepharophimosis, Ventriculomegaly,
Dolichocephaly, Mild global developmental delay, Proximal placement of thumb,
Macrocephaly, Upslanted palpebral fissure, Micrognathia
| Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Syndactyly, Delayed fine motor development, Monocular strabismus,
Azoospermia, Aphasia, Facial asymmetry,
Male infertility, Attention deficit hyperactivity disorder, Oligozoospermia,
Abnormal facial shape, Delayed speech and language developmentMicrotia,
Varicocele, Visual impairment, Upslanted palpebral fissure,
...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Specific learning disability, Speech apraxia, Abnormal eyebrow morphology,
Motor delay, Enuresis, Upslanted palpebral fissure,
Impaired visuospatial constructive cognition, Short palpebral fissure | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Attention deficit hyperactivity disorder, Pes planus, Abnormal facial shape,
Delayed speech and language development, High palate, Upslanted palpebral fissure,
Atypical behavior, Prominent forehead, Autism with high cognitive abilities,
Aggressive behavior, Global developmental delayAbnormal hair pattern,
Abnormal aggressive, impulsive or violent behavior, Abnormal subcutaneous fat tissue distribution, ...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | 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 |