ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q31.3(chr14:87746480-88540154)x3
Germline
Classification
(1)
Uncertain significance
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 |
1308 | 1421 | |
GPR65 | - | - |
GRCh38 GRCh37 |
8 | 33 | |
HISLA | - | - | - | GRCh38 | - | 7 |
KCNK10 | - | - |
GRCh38 GRCh37 |
26 | 51 | |
LINC01147 | - | - | - | GRCh38 | - | 7 |
LOC125048455 | - | - | - | GRCh38 | - | 7 |
LOC125048456 | - | - | - | GRCh38 | - | 7 |
LOC125048457 | - | - | - | GRCh38 | - | 7 |
LOC130056217 | - | - | - | GRCh38 | - | 87 |
LOC130056218 | - | - | - | GRCh38 | - | 7 |
There are 16 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 30, 2010 | RCV000133861.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023