ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q13(chr2:110104900-110209066)x1
Germline
Classification
(1)
Benign/Likely benign
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
LOC126806305 | - | - | - | GRCh38 | - | 54 |
LOC126806306 | - | - | - | GRCh38 | - | 88 |
MALL | - | - |
GRCh38 GRCh37 |
2 | 159 | |
NPHP1 | - | - |
GRCh38 GRCh37 |
899 | 1088 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Benign/Likely benign (1) |
|
Apr 30, 2011 | RCV000134230.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024