ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3
Germline
Classification
(1)
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 | |||
TWIST1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
153 | 247 | |
TBX20 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
558 | 579 | |
ABCB5 | - | - |
GRCh38 GRCh37 |
93 | 130 | |
ADCYAP1R1 | - | - |
GRCh38 GRCh37 |
23 | 54 | |
AGMO | - | - |
GRCh38 GRCh37 |
105 | 154 | |
AGR2 | - | - |
GRCh38 GRCh37 |
18 | 65 | |
AGR3 | - | - |
GRCh38 GRCh37 |
11 | 63 | |
AHR | - | - |
GRCh38 GRCh37 |
435 | 499 | |
ANKMY2 | - | - | - |
GRCh38 GRCh37 |
28 | 73 |
AQP1 | - | - |
GRCh38 GRCh37 |
50 | 81 |
There are 111 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV000446478.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024