ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q14.1(chr6:78661176-80245532)x1
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 | |||
PHIP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
537 | 1032 | |
BCKDHB | - | - |
GRCh38 GRCh37 |
783 | 804 | |
ELOVL4 | - | - |
GRCh38 GRCh37 |
317 | 337 | |
HMGN3 | - | - |
GRCh38 GRCh37 |
9 | 28 | |
HMGN3-AS1 | - | - | - | GRCh38 | - | 4 |
IRAK1BP1 | - | - |
GRCh38 GRCh37 |
24 | 497 | |
LCA5 | - | - |
GRCh38 GRCh37 |
819 | 844 | |
LCAL1 | - | - | - | GRCh38 | - | 4 |
LINC01621 | - | - | - |
GRCh38 GRCh37 |
- | 19 |
LOC121132695 | - | - | - | GRCh38 | - | 4 |
There are 19 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Nov 26, 2012 | RCV000143199.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024