ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q12.3-13.2(chr5:65315606-68755816)x1
Germline
Classification
(1)
Likely pathogenic
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 | |||
CCDC125 | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 42 | |
CCNB1 | - | - |
GRCh38 GRCh37 |
16 | 32 | |
CD180 | - | - |
GRCh38 GRCh37 |
51 | 70 | |
CDK7 | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 24 | |
CENPH | - | - |
GRCh38 GRCh37 |
13 | 30 | |
ERBIN | - | - |
GRCh38 GRCh37 |
730 | 750 | |
MARVELD2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
189 | 206 | |
MAST4 | - | - |
GRCh38 GRCh37 |
156 | 179 | |
MRPS36 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 4 | |
PIK3R1 | - | - |
GRCh38 GRCh37 |
530 | 546 |
There are 4 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) |
|
Apr 6, 2018 | RCV000682564.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022