NM_000552.5(VWF):c.2435del (p.Pro812fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002476902.8
Allele description [Variation Report for NM_000552.5(VWF):c.2435del (p.Pro812fs)]
NM_000552.5(VWF):c.2435del (p.Pro812fs)
Condition(s)
- Name:
- von Willebrand disease type 1 (VWD1)
- Synonyms:
- VON WILLEBRAND DISEASE, TYPE I; VWD, TYPE 1
- Identifiers:
- MONDO: MONDO:0008668; MedGen: C1264039; Orphanet: 166078; Orphanet: 903; OMIM: 193400
- Name:
- von Willebrand disease type 3 (VWD3)
- Synonyms:
- Von Willebrand disease, recessive form; Type 3 Von Willebrand's disease; Type 3 VWD; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010191; MedGen: C1264041; OMIM: 277480
- Name:
- von Willebrand disease type 2 (VWD2)
- Synonyms:
- VON WILLEBRAND DISEASE, TYPE II; VWD, TYPE 2; VON WILLEBRAND DISEASE, TYPE 2A/IIE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013304; MedGen: C1264040; Orphanet: 166081; Orphanet: 903; OMIM: 613554
Assertion and evidence details
Last Updated: May 26, 2024