ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18q22.3-23(chr18:74207209-79351148)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
GALR1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
27 | 197 | |
ZNF407 | No evidence available | No evidence available |
GRCh38 GRCh37 |
293 | 510 | |
ATP9B | - | - |
GRCh38 GRCh37 |
99 | 280 | |
C18orf63 | - | - | - |
GRCh38 GRCh37 |
3 | 158 |
CNDP1 | - | - |
GRCh38 GRCh37 |
51 | 216 | |
CNDP2 | - | - |
GRCh38 GRCh37 |
47 | 213 | |
CYB5A | - | - |
GRCh38 GRCh37 |
9 | 168 | |
DIPK1C | - | - |
GRCh38 GRCh37 |
47 | 209 | |
LINC00683 | - | - | - |
GRCh38 GRCh37 |
- | 156 |
LINC00908 | - | - | - | GRCh38 | - | 67 |
There are 141 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
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053906.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023