ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q21.1-21.2(chr2:131777624-134871884)x1
Germline
Classification
(1)
Uncertain significance
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 |
69 | 127 | |
CCDC74A | - | - | - |
GRCh38 GRCh37 |
44 | 82 |
CDRT15P3 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 22 |
FAM168B | - | - |
GRCh38 GRCh37 |
10 | 66 | |
GPR39 | - | - |
GRCh38 GRCh37 |
15 | 64 | |
LINC03124 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 17 |
LYPD1 | - | - |
GRCh38 GRCh37 |
1 | 46 | |
MZT2A | - | - |
GRCh38 GRCh37 |
19 | 98 | |
NCKAP5 | - | - |
GRCh38 GRCh37 |
180 | 202 | |
PLEKHB2 | - | - |
GRCh38 GRCh37 |
15 | 74 |
There are 3 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 9, 2022 | RCV003484904.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024