ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)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 | |||
ACADM | - | - |
GRCh38 GRCh37 |
863 | 895 | |
ADGRL2 | - | - |
GRCh38 GRCh37 |
92 | 108 | |
ADGRL4 | - | - |
GRCh38 GRCh37 |
39 | 58 | |
AK5 | - | - |
GRCh38 GRCh37 |
38 | 59 | |
ASB17 | - | - |
GRCh38 GRCh37 |
13 | 37 | |
BARHL2 | - | - |
GRCh38 GRCh37 |
24 | 31 | |
BCL10 | - | - |
GRCh38 GRCh37 |
93 | 126 | |
BRDT | - | - |
GRCh38 GRCh37 |
51 | 64 | |
C1orf52 | - | - | - |
GRCh38 GRCh37 |
- | 15 |
CCN1 | - | - |
GRCh38 GRCh37 |
26 | 48 |
There are 72 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 14, 2015 | RCV000510161.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024