ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
ATP6V1C2 | - | - |
GRCh38 GRCh37 |
26 | 55 | |
C2orf48 | - | - | - |
GRCh38 GRCh37 |
- | 25 |
C2orf50 | - | - | - |
GRCh38 GRCh37 |
- | 23 |
CYS1 | - | - |
GRCh38 GRCh37 |
14 | 54 | |
E2F6 | - | - |
GRCh38 GRCh37 |
11 | 42 | |
GREB1 | - | - |
GRCh38 GRCh37 |
137 | 172 | |
GRHL1 | - | - |
GRCh38 GRCh37 |
23 | 45 | |
HPCAL1 | - | - |
GRCh38 GRCh37 |
8 | 33 | |
KCNF1 | - | - |
GRCh38 GRCh37 |
19 | 41 | |
KLF11 | - | - |
GRCh38 GRCh37 |
238 | 275 |
There are 11 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 20, 2021 | RCV001827895.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 17, 2022