NC_000011.10:g.(?_112086823)_(112086969_?)dup AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 31, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001033589.2
Allele description [Variation Report for NC_000011.10:g.(?_112086823)_(112086969_?)dup]
NC_000011.10:g.(?_112086823)_(112086969_?)dup
Condition(s)
- Name:
- Carney-Stratakis syndrome
- Synonyms:
- Paraganglioma and gastric stromal sarcoma; Paraganglioma and gastrointestinal stromal tumor; Paraganglioma and GIST; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011740; MedGen: C1847319; Orphanet: 97286; OMIM: 606864
- Name:
- Pheochromocytoma
- Synonyms:
- Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008233; MedGen: C0031511; Orphanet: 29072; OMIM: 171300; Human Phenotype Ontology: HP:0002666
- Name:
- Paragangliomas 1
- Synonyms:
- Paragangliomata; Glomus tumors familial 1; Paraganglioma - glomus jugulare; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008192; MedGen: C3494181; Orphanet: 29072; OMIM: 168000
-
PREDICTED: Homo sapiens transmembrane protein 218 (TMEM218), transcript variant ...
PREDICTED: Homo sapiens transmembrane protein 218 (TMEM218), transcript variant X1, mRNAgi|2462523574|ref|XM_054367984.1|Nucleotide
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Falco cherrug cytochrome c oxidase subunit I gene, partial cds; mitochondrial.
Falco cherrug cytochrome c oxidase subunit I gene, partial cds; mitochondrial.PopSet: 126697493PopSet
-
Familial multiple nevi flammei
Familial multiple nevi flammeiMedGen
-
C2931029[conceptid] (1)
MedGen
-
transmembrane protein 218 isoform X1 [Homo sapiens]
transmembrane protein 218 isoform X1 [Homo sapiens]gi|2217281627|ref|XP_047282496.1|Protein
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See more...Assertion and evidence details
Last Updated: Nov 11, 2023