ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p12.3(chr6:47191779-51427306)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 |
135 | 146 | |
ADGRF2 | - | - | - |
GRCh38 GRCh37 |
30 | 39 |
ADGRF4 | - | - |
GRCh38 GRCh37 |
33 | 42 | |
C6orf141 | - | - | - |
GRCh38 GRCh37 |
- | 14 |
CD2AP | - | - |
GRCh38 GRCh37 |
339 | 359 | |
CD2AP-DT | - | - | - | GRCh38 | - | 13 |
CENPQ | - | - |
GRCh38 GRCh37 |
6 | 21 | |
CRISP1 | - | - |
GRCh38 GRCh37 |
19 | 32 | |
CRISP2 | - | - |
GRCh38 GRCh37 |
19 | 32 | |
CRISP3 | - | - |
GRCh38 GRCh37 |
10 | 23 |
There are 56 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 24, 2014 | RCV000141689.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023