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Genetic findings from conclusive cases.

Explore genes and variants identified in conclusive exome and genome results. This feed presents technical findings published by our team; the meaning of each result depends on its clinical context.

Conclusive cases

Published results

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  • F5 ENST00000367797.9:c.1601G>A (ENSP00000356771.3:p.Arg534Gln)
Recorded clinical findings

Hypotonia (HP:0001252); Motor delay (HP:0001270); Apraxia (HP:0002186); Molar tooth sign on MRI (HP:0002419)

  • CC2D2A ENST00000424120.6:c.3594+5G>A
Recorded clinical findings

Abnormal heart morphology (HP:0001627); Abnormal aortic valve morphology (HP:0001646); Aortic valve stenosis (HP:0001650); Supravalvular aortic stenosis (HP:0004381); Pulmonary artery stenosis (HP:0004415); Peripheral arterial stenosis (HP:0004950)

  • ELN ENST00000252034.12:c.65_66del (ENSP00000252034.7:p.His22ProfsTer42)
Recorded clinical findings

Cardiomyopathy (HP:0001638); Sudden cardiac death (HP:0001645); Arrhythmia (HP:0011675)

  • PKP2 ENST00000340811.9:c.472_473del (ENSP00000342800.5:p.Arg158GlyfsTer57)
  • LDLR ENST00000558518.6:c.1801G>C (ENSP00000454071.1:p.Asp601His)
  • CAPN3 ENST00000397163.8:c.1746-20C>G
  • PCCA ENST00000376285.6:c.440del (ENSP00000365462.1:p.Ser147Ter)
  • DUOX2 ENST00000389039.11:c.2597T>G (ENSP00000373691.7:p.Met866Arg)
  • GJB2 ENST00000382848.5:c.101T>C (ENSP00000372299.4:p.Met34Thr)
Recorded clinical findings

Cardiomyopathy (HP:0001638); Hypertrophic cardiomyopathy (HP:0001639); Sensory axonal neuropathy (HP:0003390); Peripheral neuropathy (HP:0009830); Lipomatous tumor (HP:0012031)

  • MYBPC3 ENST00000545968.6:c.1484G>A (ENSP00000442795.1:p.Arg495Gln)
Recorded clinical findings

Thick lower lip vermilion (HP:0000179); Low anterior hairline (HP:0000294); Synophrys (HP:0000664); Atypical behavior (HP:0000708); Intellectual disability (HP:0001249); Seizure (HP:0001250); Ataxia (HP:0001251); Global developmental delay (HP:0001263); Motor delay (HP:0001270); Gait disturbance (HP:0001288); Constipation (HP:0002019); Postural instability (HP:0002172); Thick vermilion border (HP:0012471); Neurodevelopmental delay (HP:0012758); Epileptic encephalopathy (HP:0200134)

  • SLC16A2 ENST00000587091.6:c.1014del (ENSP00000465734.1:p.Tyr339MetfsTer4)
  • DUOX2 ENST00000389039.11:c.2895_2898del (ENSP00000373691.7:p.Phe966SerfsTer29)
  • G6PD ENST00000393562.10:c.376A>G (ENSP00000377192.3:p.Asn126Asp)
  • G6PD ENST00000393562.10:c.202G>A (ENSP00000377192.3:p.Val68Met)
  • MMADHC ENST00000303319.10:c.748C>T (ENSP00000301920.5:p.Arg250Ter)
  • HOGA1 ENST00000880786.2:c.705G>T (ENSP00000550845.1:p.Arg235Ser)
Recorded clinical findings

Micrognathia (HP:0000347); Wide nasal bridge (HP:0000431); Long neck (HP:0000472); Hypoplasia of the thymus (HP:0000778); Slender build (HP:0001533); Abnormal heart morphology (HP:0001627); Ventricular septal defect (HP:0001629); Abnormal facial shape (HP:0001999); Hypocalcemia (HP:0002901); Wide intermamillary distance (HP:0006610); Abnormal aortic arch morphology (HP:0012303)

  • RTN4R DEL chr22:18906565-20708098
Recorded clinical findings

Abnormality of the kidney (HP:0000077); Abnormal renal glomerulus morphology (HP:0000095); Glomerular capillary collapse (HP:0033269); Glomerulopathy (HP:0100820)

  • APOL1 ENST00000397278.8:c.1024A>G (ENSP00000380448.4:p.Ser342Gly)
  • APOL1 ENST00000397278.8:c.1152T>G (ENSP00000380448.4:p.Ile384Met)
  • CYP1B1 ENST00000610745.5:c.1159G>A (ENSP00000478561.1:p.Glu387Lys)

How to interpret

Each result represents an individual investigation.

These records show technical findings and do not, by themselves, describe a treatment or change in care. A conclusive result connects the genetic finding to the case; it does not predict other people's results.

Patient guide: understanding your report