ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p12-11.2(chr2:82517612-86262705)x3
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 | |||
ATOH8 | - | - |
GRCh38 GRCh37 |
28 | 46 | |
C2orf68 | - | - |
GRCh38 GRCh37 |
- | 19 | |
CAPG | - | - |
GRCh38 GRCh37 |
18 | 35 | |
DNAH6 | - | - |
GRCh38 GRCh37 |
420 | 437 | |
ELMOD3 | - | - |
GRCh38 GRCh38 GRCh37 |
152 | 171 | |
GGCX | - | - |
GRCh38 GRCh37 |
453 | 486 | |
GNLY | - | - |
GRCh38 GRCh37 |
11 | 28 | |
KCMF1 | - | - |
GRCh38 GRCh37 |
9 | 24 | |
MAT2A | - | - |
GRCh38 GRCh37 |
207 | 238 | |
POLR1A | - | - |
GRCh38 GRCh37 |
737 | 870 |
There are 14 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) |
|
Aug 14, 2017 | RCV000682150.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022