NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002506299.2
Allele description [Variation Report for NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)]
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
Condition(s)
- Name:
- Ectopia lentis 1, isolated, autosomal dominant (ECTOL1)
- Identifiers:
- MONDO: MONDO:0007514; MedGen: C3541518; Orphanet: 1885; OMIM: 129600
- Name:
- Marfan syndrome (MFS)
- Synonyms:
- MARFAN SYNDROME, TYPE I; Marfan syndrome type 1; Marfan's syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007947; MedGen: C0024796; Orphanet: 284963; Orphanet: 558; OMIM: 154700
- Name:
- MASS syndrome (OCTD)
- Synonyms:
- Overlap connective tissue disease
- Identifiers:
- MONDO: MONDO:0011431; MedGen: C1858556; OMIM: 604308
- Name:
- Weill-Marchesani syndrome 2, dominant
- Synonyms:
- Weill-Marchesani Syndrome, Autosomal Dominant; Weill-Marchesani syndrome 2; Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome
- Identifiers:
- MONDO: MONDO:0012013; MedGen: C1869115; OMIM: 608328
- Name:
- Acromicric dysplasia (ACMICD)
- Synonyms:
- Acromicric skeletal dysplasia
- Identifiers:
- MONDO: MONDO:0007055; MedGen: C0265287; Orphanet: 969; OMIM: 102370
- Name:
- Geleophysic dysplasia 2 (GPHYSD2)
- Identifiers:
- MONDO: MONDO:0013612; MedGen: C3280054; Orphanet: 2623; OMIM: 614185
- Name:
- Progeroid and marfanoid aspect-lipodystrophy syndrome
- Synonyms:
- MARFANOID-PROGEROID SYNDROME; MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME; Marfan lipodystrophy syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0014831; MedGen: C4310796; Orphanet: 300382; OMIM: 616914
Assertion and evidence details
Last Updated: Oct 20, 2024