NM_004082.5(DCTN1):c.200G>T (p.Gly67Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 17, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001372956.7
Allele description [Variation Report for NM_004082.5(DCTN1):c.200G>T (p.Gly67Val)]
NM_004082.5(DCTN1):c.200G>T (p.Gly67Val)
Condition(s)
- Name:
- Amyotrophic lateral sclerosis type 1 (ALS1)
- Synonyms:
- AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
- Identifiers:
- MONDO: MONDO:0007103; MedGen: C1862939; Orphanet: 803; OMIM: 105400
- Name:
- Perry syndrome
- Synonyms:
- Parkinsonism with alveolar hypoventilation and mental depression
- Identifiers:
- MONDO: MONDO:0008201; MedGen: C1868594; Orphanet: 178509; OMIM: 168605
- Name:
- Neuronopathy, distal hereditary motor, type 7B
- Synonyms:
- HMN VIIB; LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE; NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 14; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011879; MedGen: C1843315; Orphanet: 139589; OMIM: 607641
Assertion and evidence details
Last Updated: Sep 29, 2024