ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)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 | |||
TFAP2B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
142 | 153 | |
C6orf141 | - | - | - |
GRCh38 GRCh37 |
- | 14 |
CENPQ | - | - |
GRCh38 GRCh37 |
12 | 27 | |
CILK1 | - | - |
GRCh38 GRCh37 |
191 | 203 | |
CRISP1 | - | - |
GRCh38 GRCh37 |
25 | 38 | |
CRISP2 | - | - |
GRCh38 GRCh37 |
21 | 34 | |
CRISP3 | - | - |
GRCh38 GRCh37 |
13 | 26 | |
DEFB110 | - | - | - |
GRCh38 GRCh37 |
11 | 22 |
DEFB112 | - | - | - |
GRCh38 GRCh37 |
5 | 17 |
DEFB113 | - | - | - |
GRCh38 GRCh37 |
6 | 17 |
There are 35 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
|
Likely pathogenic (1) |
|
Dec 12, 2019 | RCV001263045.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023