ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)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 | |||
GALR1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
23 | 193 | |
ZNF407 | No evidence available | No evidence available |
GRCh38 GRCh37 |
282 | 497 | |
ADNP2 | - | - |
GRCh38 GRCh37 |
74 | 250 | |
ATP9B | - | - |
GRCh38 GRCh37 |
92 | 273 | |
C18orf63 | - | - | - |
GRCh38 GRCh37 |
3 | 158 |
CNDP1 | - | - |
GRCh38 GRCh37 |
41 | 206 | |
CNDP2 | - | - |
GRCh38 GRCh37 |
45 | 211 | |
CTDP1 | - | - |
GRCh38 GRCh38 GRCh37 |
530 | 715 | |
CTDP1-DT | - | - | - |
GRCh38 GRCh38 |
- | 73 |
CYB5A | - | - |
GRCh38 GRCh37 |
9 | 168 |
There are 222 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) |
|
Nov 27, 2012 | RCV000138719.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024