ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)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 | |||
DIRAS3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 35 | |
ACADM | - | - |
GRCh38 GRCh37 |
859 | 891 | |
ADGRL2 | - | - |
GRCh38 GRCh37 |
77 | 93 | |
ADGRL4 | - | - |
GRCh38 GRCh37 |
30 | 49 | |
AK5 | - | - |
GRCh38 GRCh37 |
30 | 51 | |
ANKRD13C | - | - |
GRCh38 GRCh37 |
3 | 36 | |
ASB17 | - | - |
GRCh38 GRCh37 |
12 | 36 | |
BCL10 | - | - |
GRCh38 GRCh37 |
92 | 125 | |
C1orf52 | - | - | - |
GRCh38 GRCh37 |
- | 15 |
CCN1 | - | - |
GRCh38 GRCh37 |
22 | 42 |
There are 57 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 23, 2018 | RCV000846441.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022