ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)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 | |||
ACTG2 | - | - |
GRCh38 GRCh37 |
82 | 96 | |
ALMS1 | - | - |
GRCh38 GRCh38 GRCh37 |
6006 | 6317 | |
ANKRD53 | - | - |
GRCh38 GRCh37 |
52 | 67 | |
ATP6V1B1 | - | - |
GRCh38 GRCh37 |
627 | 688 | |
AUP1 | - | - |
GRCh38 GRCh37 |
21 | 58 | |
BOLA3 | - | - |
GRCh38 GRCh37 |
84 | 105 | |
C2orf78 | - | - | - |
GRCh38 GRCh38 GRCh37 |
6 | 20 |
C2orf81 | - | - | - |
GRCh38 GRCh37 |
3 | 19 |
CCDC142 | - | - | - |
GRCh38 GRCh37 |
38 | 66 |
CCT7 | - | - |
GRCh38 GRCh37 |
26 | 40 |
There are 52 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV003986388.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024