ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1
Germline
Classification
(1)
Likely 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 | |||
ARHGEF4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
62 | 120 | |
CFC1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
26 | 47 | |
GPR148 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
32 | 87 |
AMER3 | - | - | - |
GRCh38 GRCh37 |
71 | 129 |
AMMECR1L | - | - | - |
GRCh38 GRCh37 |
12 | 38 |
BIN1 | - | - |
GRCh38 GRCh37 |
700 | 750 | |
C2orf27A | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 10 |
CCDC115 | - | - |
GRCh38 GRCh37 |
43 | 92 | |
CCDC74A | - | - | - |
GRCh38 GRCh37 |
43 | 79 |
CCDC74B | - | - | - |
GRCh38 GRCh38 GRCh37 |
36 | 69 |
There are 36 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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Sep 5, 2019 | RCV001194541.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023