ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)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 | |||
APOBEC4 | - | - |
GRCh38 GRCh37 |
- | 43 | |
ARPC5 | - | - |
GRCh38 GRCh37 |
5 | 36 | |
BRINP3 | - | - |
GRCh38 GRCh37 |
48 | 74 | |
C1orf21 | - | - | - |
GRCh38 GRCh37 |
4 | 29 |
CACNA1E | - | - |
GRCh38 GRCh37 |
1978 | 2010 | |
COLGALT2 | - | - |
GRCh38 GRCh37 |
52 | 80 | |
DHX9 | - | - |
GRCh38 GRCh37 |
41 | 71 | |
EDEM3 | - | - |
GRCh38 GRCh37 |
59 | 88 | |
GLUL | - | - |
GRCh38 GRCh37 |
193 | 269 | |
HMCN1 | - | - |
GRCh38 GRCh37 |
2883 | 2955 |
There are 27 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 20, 2016 | RCV000240242.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022