ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p22.3-22.2(chr6:22519454-25226331)x1
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 | |||
ACOT13 | - | - |
GRCh38 GRCh37 |
10 | 20 | |
ALDH5A1 | - | - |
GRCh38 GRCh37 |
615 | 831 | |
ARMH2 | - | - | - | GRCh38 | - | 5 |
C6orf62 | - | - | - |
GRCh38 GRCh37 |
1 | 10 |
DCDC2 | - | - |
GRCh38 GRCh37 |
230 | 286 | |
GMNN | - | - |
GRCh38 GRCh37 |
88 | 97 | |
GPLD1 | - | - |
GRCh38 GRCh37 |
58 | 228 | |
HDGFL1 | - | - | - |
GRCh38 GRCh37 |
26 | 37 |
KAAG1 | - | - |
GRCh38 GRCh37 |
- | 53 | |
KIAA0319 | - | - |
GRCh38 GRCh37 |
92 | 100 |
There are 42 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) |
|
Mar 30, 2010 | RCV000133948.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024