NM_001110556.2(FLNA):c.2405-10C>G AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003807762.2
Allele description [Variation Report for NM_001110556.2(FLNA):c.2405-10C>G]
NM_001110556.2(FLNA):c.2405-10C>G
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
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PREDICTED: Homo sapiens golgi SNAP receptor complex member 2 (GOSR2), transcript...
PREDICTED: Homo sapiens golgi SNAP receptor complex member 2 (GOSR2), transcript variant X17, mRNAgi|2217314909|ref|XM_047437115.1|Nucleotide
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Last Updated: Sep 29, 2024