NM_001110556.2(FLNA):c.249G>A (p.Val83=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002605380.2
Allele description [Variation Report for NM_001110556.2(FLNA):c.249G>A (p.Val83=)]
NM_001110556.2(FLNA):c.249G>A (p.Val83=)
Condition(s)
- Name:
- Heterotopia, periventricular, X-linked dominant (PVNH1)
- Synonyms:
- PERIVENTRICULAR NODULAR HETEROTOPIA 1; X-linked periventricular heterotopia; Heterotopia familial nodular; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010233; MedGen: C1848213; Orphanet: 2149; Orphanet: 82004; OMIM: 300049
- Name:
- Melnick-Needles syndrome (MNS)
- Synonyms:
- Melnick-Needles osteodysplasty; Osteodysplasty of Melnick and Needles
- Identifiers:
- MONDO: MONDO:0010650; MedGen: C0025237; Orphanet: 2484; OMIM: 309350
- Name:
- Oto-palato-digital syndrome, type II (OPD2)
- Synonyms:
- OPD II SYNDROME; Oto-palato-digital syndrome type 2; Andre syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010571; MedGen: C1844696; Orphanet: 669; Orphanet: 90652; OMIM: 304120
Assertion and evidence details
Last Updated: May 26, 2024