ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q31.3(chr14:86155419-88321735)x3
Germline
Classification
(1)
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 | |||
GALC | - | - |
GRCh38 GRCh37 |
1313 | 1426 | |
GPR65 | - | - |
GRCh38 GRCh37 |
10 | 35 | |
HISLA | - | - | - | GRCh38 | - | 7 |
KCNK10 | - | - |
GRCh38 GRCh37 |
33 | 58 | |
LINC01147 | - | - | - | GRCh38 | - | 7 |
LINC01148 | - | - | - | GRCh38 | - | 8 |
LINC02296 | - | - | - | GRCh38 | - | 7 |
LINC02309 | - | - | - | GRCh38 | - | 8 |
LINC02330 | - | - | - | GRCh38 | - | 6 |
LOC125048454 | - | - | - | GRCh38 | - | 8 |
There are 17 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 |
---|---|---|---|---|
Likely benign (1) |
|
Jun 1, 2012 | RCV000138221.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024