ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4
Germline
Classification
(1)
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 | |||
CILK1 | - | - |
GRCh38 GRCh37 |
190 | 202 | |
EFHC1 | - | - |
GRCh38 GRCh37 |
445 | 462 | |
ELOVL5 | - | - |
GRCh38 GRCh37 |
117 | 130 | |
FBXO9 | - | - |
GRCh38 GRCh37 |
14 | 25 | |
GCLC | - | - |
GRCh38 GRCh37 |
80 | 160 | |
GCLC-AS1 | - | - | - | GRCh38 | - | 64 |
GCM1 | - | - |
GRCh38 GRCh37 |
32 | 43 | |
GSTA1 | - | - |
GRCh38 GRCh37 |
14 | 27 | |
GSTA2 | - | - |
GRCh38 GRCh37 |
15 | 26 | |
GSTA3 | - | - |
GRCh38 GRCh37 |
16 | 28 |
There are 111 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
|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000137095.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024