ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q22.2-22.3(chr8:100551211-103676738)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 | |||
ANKRD46 | - | - | - |
GRCh38 GRCh37 |
12 | 53 |
COX6C | - | - |
GRCh38 GRCh37 |
7 | 51 | |
FBXO43 | - | - |
GRCh38 GRCh37 |
39 | 82 | |
GRHL2 | - | - |
GRCh38 GRCh37 |
214 | 281 | |
KLF10 | - | - |
GRCh38 GRCh37 |
209 | 259 | |
NCALD | - | - |
GRCh38 GRCh37 |
6 | 50 | |
ODF1 | - | - |
GRCh38 GRCh37 |
22 | 69 | |
PABPC1 | - | - |
GRCh38 GRCh37 |
20 | 61 | |
POLR2K | - | - |
GRCh38 GRCh37 |
3 | 47 | |
RGS22 | - | - |
GRCh38 GRCh37 |
66 | 109 |
There are 9 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 21, 2018 | RCV000683023.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022