ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)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 | |||
ARHGEF4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | - | |
CFC1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
25 | - | |
GPR148 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
28 | 83 |
ACMSD | - | - |
GRCh38 GRCh37 |
- | - | |
AMER3 | - | - | - |
GRCh38 GRCh37 |
58 | - |
AMMECR1L | - | - | - |
GRCh38 GRCh37 |
11 | 37 |
BIN1 | - | - |
GRCh38 GRCh37 |
- | 748 | |
C2orf27A | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 25 |
CCDC115 | - | - |
GRCh38 GRCh37 |
39 | - | |
CCDC74A | - | - | - |
GRCh38 GRCh37 |
28 | - |
There are 56 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) |
|
Mar 1, 2021 | RCV001832883.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023