ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)
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 | |||
A3GALT2 | - | - |
GRCh38 GRCh37 |
2 | 13 | |
AGO1 | - | - |
GRCh38 GRCh37 |
75 | 97 | |
AGO3 | - | - |
GRCh38 GRCh37 |
39 | 57 | |
AGO4 | - | - |
GRCh38 GRCh37 |
29 | 43 | |
AK2 | - | - |
GRCh38 GRCh37 |
175 | 211 | |
AZIN2 | - | - |
GRCh38 GRCh37 |
23 | 57 | |
BSDC1 | - | - |
GRCh38 GRCh37 |
25 | 37 | |
C1orf216 | - | - | - |
GRCh38 GRCh37 |
2 | 16 |
C1orf94 | - | - | - |
GRCh38 GRCh37 |
7 | 16 |
CLSPN | - | - |
GRCh38 GRCh37 |
58 | 75 |
There are 33 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) |
|
Nov 1, 2018 | RCV000767772.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022