NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000626764.3
Allele description [Variation Report for NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)]
NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)
Condition(s)
- Name:
- Astigmatism
- Identifiers:
- MONDO: MONDO:0011284; MedGen: C0004106; OMIM: 603047; Human Phenotype Ontology: HP:0000483
- Name:
- Cystoid macular edema (DCMD)
- Synonyms:
- CYSTOID MACULAR DYSTROPHY; MACULAR DYSTROPHY, DOMINANT CYSTOID
- Identifiers:
- MONDO: MONDO:0007935; MedGen: C0024440; Orphanet: 75381; OMIM: 153880; Human Phenotype Ontology: HP:0011505
- Name:
- Abnormal electroretinogram
- Identifiers:
- MedGen: C0476397; Human Phenotype Ontology: HP:0000512
- Name:
- Pigmentary retinopathy
- Synonyms:
- Rarefaction of retinal pigmentation; Pigmentary retinal deposits
- Identifiers:
- MedGen: C4551715; Human Phenotype Ontology: HP:0000580
- Name:
- Dyschromatopsia
- Identifiers:
- MedGen: C0858618; Human Phenotype Ontology: HP:0007641
- Name:
- Abnormality of retinal pigmentation
- Identifiers:
- MedGen: C1862475; Human Phenotype Ontology: HP:0007703
- Name:
- Electronegative electroretinogram
- Identifiers:
- MedGen: C4021561; Human Phenotype Ontology: HP:0007984
Assertion and evidence details
Last Updated: Jun 23, 2024