ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)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 |
- | 36 | |
ACADM | - | - |
GRCh38 GRCh37 |
884 | 916 | |
ANKRD13C | - | - |
GRCh38 GRCh37 |
8 | 42 | |
ASB17 | - | - |
GRCh38 GRCh37 |
13 | 37 | |
C1orf141 | - | - | - |
GRCh38 GRCh37 |
1 | 27 |
CRYZ | - | - |
GRCh38 GRCh37 |
23 | 51 | |
CTH | - | - |
GRCh38 GRCh37 |
70 | 100 | |
DEPDC1 | - | - |
GRCh38 GRCh37 |
45 | 70 | |
DNAI4 | - | - |
GRCh38 GRCh37 |
51 | 81 | |
DYNLT5 | - | - |
GRCh38 GRCh37 |
11 | 37 |
There are 31 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) |
|
Apr 27, 2017 | RCV000847457.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022