ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)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 | 243 | |
AGMO | - | - |
GRCh38 GRCh37 |
100 | 149 | |
AGR2 | - | - |
GRCh38 GRCh37 |
17 | 64 | |
AGR3 | - | - |
GRCh38 GRCh37 |
10 | 62 | |
AHR | - | - |
GRCh38 GRCh37 |
435 | 499 | |
ANKMY2 | - | - | - |
GRCh38 GRCh37 |
25 | 70 |
ARL4A | - | - |
GRCh38 GRCh37 |
5 | 42 | |
BZW2 | - | - |
GRCh38 GRCh37 |
14 | 60 | |
CRPPA | - | - |
GRCh38 GRCh37 |
512 | 763 | |
CRPPA-AS1 | - | - | - | GRCh38 | - | 141 |
There are 122 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052281.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023