ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10p13(chr10:12333253-13948472)x1
Germline
Classification
(1)
Likely pathogenic
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 | |||
BEND7 | - | - | - |
GRCh38 GRCh37 |
34 | 58 |
BEND7-DT | - | - | - | GRCh38 | - | 8 |
CAMK1D | - | - |
GRCh38 GRCh37 |
13 | 46 | |
CCDC3 | - | - | - |
GRCh38 GRCh37 |
26 | 58 |
FRMD4A | - | - |
GRCh38 GRCh37 |
113 | 149 | |
LOC105376420 | - | - | - | GRCh38 | - | 8 |
LOC107275222 | - | - | - | GRCh38 | - | 9 |
LOC107275223 | - | - | - | GRCh38 | - | 11 |
LOC107275226 | - | - | - | GRCh38 | - | 9 |
LOC108903148 | - | - | - | GRCh38 | - | 95 |
There are 61 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Nov 30, 2010 | RCV000134396.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023