ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1
Germline
Classification
(1)
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 | |||
TWIST1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
151 | 244 | |
ABCB5 | - | - |
GRCh38 GRCh37 |
81 | 118 | |
CBX3 | - | - |
GRCh38 GRCh37 |
3 | 36 | |
CCDC126 | - | - | - |
GRCh38 GRCh37 |
12 | 45 |
CDCA7L | - | - |
GRCh38 GRCh37 |
26 | 202 | |
CHN2 | - | - |
GRCh38 GRCh37 |
25 | 62 | |
CPVL | - | - |
GRCh38 GRCh37 |
27 | 63 | |
CREB5 | - | - |
GRCh38 GRCh37 |
24 | 50 | |
CYCS | - | - |
GRCh38 GRCh37 |
53 | 84 | |
DNAH11 | - | - |
GRCh38 GRCh37 |
5328 | 5707 |
There are 67 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 |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003986712.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024