ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18q23(chr18:77263709-80252149)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 | |
ADNP2 | - | - |
GRCh38 GRCh37 |
74 | 250 | |
ATP9B | - | - |
GRCh38 GRCh37 |
92 | 273 | |
CTDP1 | - | - |
GRCh38 GRCh38 GRCh37 |
530 | 715 | |
CTDP1-DT | - | - | - |
GRCh38 GRCh38 |
- | 73 |
HSBP1L1 | - | - | - |
GRCh38 GRCh37 |
1 | 182 |
KCNG2 | - | - |
GRCh38 GRCh37 |
36 | 228 | |
LINC01029 | - | - | - | GRCh38 | - | 71 |
LINC01896 | - | - | - |
GRCh38 GRCh38 GRCh38 |
- | 74 |
LOC105372228 | - | - | - |
GRCh38 GRCh38 |
- | 72 |
There are 88 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) |
|
May 27, 2010 | RCV000133678.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024