ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1
Germline
Classification
(1)
Likely 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 | |||
AFG3L2 | - | - |
GRCh38 GRCh37 |
417 | 555 | |
ANKRD12 | - | - |
GRCh38 GRCh37 |
97 | 202 | |
ANKRD62 | - | - | - |
GRCh38 GRCh37 |
2 | 97 |
APCDD1 | - | - |
GRCh38 GRCh37 |
100 | 203 | |
C18orf61 | - | - | - | GRCh38 | - | 37 |
CEP192 | - | - |
GRCh38 GRCh37 |
136 | 226 | |
CEP76 | - | - |
GRCh38 GRCh37 |
- | 123 | |
CHMP1B | - | - |
GRCh38 GRCh37 |
- | 116 | |
CIDEA | - | - |
GRCh38 GRCh37 |
17 | 111 | |
GACAT2 | - | - | GRCh38 | - | 46 |
There are 156 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
|
Likely pathogenic (1) |
|
Oct 10, 2011 | RCV000137503.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024