ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)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 | |||
GLI3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1114 | 1143 | |
TWIST1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
151 | 243 | |
CDK13 | Some evidence for dosage pathogenicity | Not yet evaluated |
GRCh38 GRCh37 |
669 | 791 | |
CAMK2B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
698 | 726 | |
TBX20 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
546 | 567 | |
GRB10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
48 | 61 | |
ABCA13 | - | - |
GRCh38 GRCh37 |
391 | 420 | |
ABCB5 | - | - |
GRCh38 GRCh37 |
81 | 118 | |
ADCY1 | - | - |
GRCh38 GRCh37 |
261 | 293 | |
ADCYAP1R1 | - | - |
GRCh38 GRCh37 |
22 | 53 |
There are 188 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) |
|
Jun 16, 2014 | RCV000512091.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023