ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)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 | |||
PBX1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
129 | 149 | |
SDHC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
861 | 903 | |
ADAMTS4 | - | - |
GRCh38 GRCh37 |
48 | 90 | |
ALDH9A1 | - | - |
GRCh38 GRCh37 |
36 | 56 | |
APCS | - | - |
GRCh38 GRCh37 |
14 | 24 | |
APOA2 | - | - |
GRCh38 GRCh37 |
29 | 48 | |
ARHGAP30 | - | - |
GRCh38 GRCh37 |
65 | 83 | |
ATF6 | - | - |
GRCh38 GRCh37 |
431 | 451 | |
ATF6-DT | - | - | - | GRCh38 | - | 4 |
ATP1A2 | - | - |
GRCh38 GRCh37 |
1223 | 1337 |
There are 363 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 | RCV000051172.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024