| - GRCh37:
- Chr12:49333545
- GRCh38:
- Chr12:48939762
| ARF3 | D93N | Clinodactyly, Long neck, Neurodevelopmental delay,
Bifid uvula, Global developmental delay, Long ear,
Self-injurious behavior, Delayed early-childhood social milestone development, Delayed speech and language development,
Motor delay, AutismAbnormality of the dentition,
Hypotonia, Microcephaly, Intellectual disability,
Atrophy/Degeneration affecting the central nervous system, Pectus excavatum, ...see more | Pathogenic/Likely pathogenic
(Mar 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:99152270-99152271
- GRCh38:
- Chr2:98535807-98535808
| INPP4A | S118fs | Pectus excavatum, Nystagmus, Microcephaly,
Hypotonia, visual disturbance | Likely pathogenic
(Jun 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:135122214-135122230
- GRCh38:
- ChrX:136040055-136040071
| SLC9A6 | | Autism, Secondary microcephaly, Chorea,
Global developmental delay, Clinodactyly of the 5th finger, Seizure,
Short stature, Failure to thrive, Pectus excavatum,
Esotropia, Focal white matter lesionsDeeply set eye,
Generalized hypotonia, Abnormal nonverbal communicative behavior, See cases,
...see more | Likely pathogenic
(Dec 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:34937536
- GRCh38:
- Chr5:34937431
| DNAJC21 | R182* | Short stature, Pectus excavatum, Acute myeloid leukemia,
Cognitive impairment, Pancytopenia, Webbed neck,
Abnormality of the tongue, See cases | Pathogenic
(Dec 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42607706-42607707
- GRCh38:
- Chr22:42211700-42211701
| TCF20 | P1203fs | Failure to thrive, Pectus excavatum, Intellectual disability, moderate,
Generalized hypotonia, Ptosis | Pathogenic
(Nov 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:31196064
- GRCh38:
- ChrX:31177947
| DMD | W3416*, W3412*, W687*, W2075*, W3293*, W2072*, W3408*, W956*, W348* | Qualitative or quantitative defects of dystrophin, Duchenne muscular dystrophy, Ptosis,
Clinodactyly of the 5th finger, Proptosis, Pectus excavatum,
Cardiomyopathy, Cardiovascular phenotype, Duchenne muscular dystrophy,
Dilated cardiomyopathy 3B, Becker muscular dystrophynot provided,
not specified, ...see more | Conflicting interpretations of pathogenicity
(Aug 7, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:48826296-48826299
- GRCh38:
- Chr15:48534099-48534102
| FBN1 | N280fs | Myopia, Tall stature, Pectus excavatum,
Joint hypermobility, Inguinal hernia | Pathogenic
(Feb 24, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr13:103525655-103525656
- GRCh38:
- Chr13:102873305-102873306
| ERCC5, BIVM-ERCC5 | L977fs, L1431fs | Pes cavus, Spastic paraplegia, Pectus excavatum,
Cognitive impairment, Abnormal corpus callosum morphology, Polyneuropathy,
Cerebellar atrophy, Dysarthria | Likely pathogenic
(Jun 15, 2015) | criteria provided, single submitter |
| - GRCh37:
- ChrX:53410167
- GRCh38:
- ChrX:53383246
| SMC1A | Q972R, Q994R | Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, Pes cavus,
Spastic paraplegia, Pectus excavatum, Cognitive impairment,
Abnormal corpus callosum morphology, Polyneuropathy, Cerebellar atrophy,
Dysarthria | Uncertain significance
(Feb 3, 2022) | criteria provided, multiple submitters, no conflicts |
| | | | Finger syndactyly, Pulmonic stenosis, Delayed closure of the anterior fontanelle,
Broad foot, Overfolded helix, Recurrent otitis media,
Prominent nasal bridge, Thin upper lip vermilion, Hypermetropia,
Epicanthus, Pectus excavatumPtosis,
Dyscalculia, Prominent nose, Specific learning disability,
Macrotia, Abnormal facial shape, Delayed speech and language development,
Hypertonia, Constipation, Motor delay,
Autistic behavior, Microcephaly, ...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Arachnodactyly, Downslanted palpebral fissures, Retrognathia,
Hallux valgus, Short metatarsal, Scoliosis,
Pectus excavatum, Global developmental delay, Cutis marmorata,
Long face, Narrow face ...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Hypoplasia of the frontal lobes, Microcephaly, Absent speech,
High palate, Intellectual disability, severe, Shortening of all distal phalanges of the fingers,
Lower limb hypertonia, Hypoplasia of the premaxilla, Pectus excavatum,
Upper limb hypertonia, Inability to walkPartial agenesis of the corpus callosum,
...see more | Likely pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Synophrys, Hemangioma, Narrow naris,
Pectus excavatum, Sydney crease, Global developmental delay,
Hypotonia, Joint hypermobility, Frontal upsweep of hair,
Narrow mouth, DolichocephalyLong eyelashes,
...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Telecanthus, Recurrent fractures, Coarse hair,
Frontal upsweep of hair, Abnormality of the outer ear, Epicanthus,
Osteoporosis, Pectus excavatum, Alopecia areata,
Abnormal facial shape, Micrognathia ...see more | Likely pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | High myopia, Intellectual disability, Absent speech,
Hypoglycemia, Failure to thrive, Hearing impairment,
Pectus excavatum, Global developmental delay, Optic nerve hypoplasia,
Cleft palate, Gastrostomy tube feeding in infancyInability to walk,
Ventriculomegaly, Abnormality of the dentition, Carious teeth,
...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:96209921
- GRCh38:
- Chr9:93447639
| FAM120AOS | T248I, T66I | Pectus excavatum, Chronic lung disease, Hypotonia,
Hyperactive airways, Bilateral undescended testicles, Cutis laxa,
Gastroesophageal reflux, Coarse facial features, Scoliosis
| Likely pathogenic
(Dec 1, 2014) | no assertion criteria provided |
| - GRCh37:
- ChrX:139586488-139586489
- GRCh38:
- ChrX:140504323-140504324
| SOX3 | | Pectus excavatum, Abnormality of the tongue, Pancytopenia,
Short stature, Webbed neck, Cognitive impairment,
Acute myeloid leukemia, Abnormal sternum morphology, Bilateral cleft palate,
Autism, Severely reduced visual acuityDelayed speech and language development,
Sensorineural hearing impairment, Rib fusion, Cleft palate,
Relative macrocephaly, Renal agenesis, Unilateral renal agenesis,
Scoliosis, Hemivertebrae, Bilateral cleft lip,
Strabismus, Global developmental delay, Bilateral cleft lip and palate,
Cryptorchidism, Pulmonic stenosis, not provided,
Intellectual disability, X-linked, with panhypopituitarism, ...see more | Conflicting interpretations of pathogenicity
(Aug 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:112891083
- GRCh38:
- Chr12:112453279
| PTPN11 | E139D, E138D | Noonan syndrome | Pathogenic
(Apr 3, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr17:7577539
- GRCh38:
- Chr17:7674221
| TP53 | R248W, R116W, R209W, R89W | Li-Fraumeni syndrome | Pathogenic
(Aug 28, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr10:112724120
- GRCh38:
- Chr10:110964362
| SHOC2 | S2G | Noonan syndrome-like disorder with loose anagen hair 1 | Pathogenic
(Apr 3, 2017) | reviewed by expert panel
FDA Recognized Database |