ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1
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 | |||
TFAP2B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
144 | 155 | |
ADGRF1 | - | - |
GRCh38 GRCh37 |
63 | 71 | |
ADGRF2 | - | - | - |
GRCh38 GRCh37 |
41 | 50 |
ADGRF4 | - | - |
GRCh38 GRCh37 |
51 | 60 | |
ADGRF5 | - | - | - |
GRCh38 GRCh37 |
87 | 95 |
ADGRF5-AS1 | - | - | - | GRCh38 | - | 2 |
ANKRD66 | - | - | - |
GRCh38 GRCh37 |
21 | 30 |
C6orf141 | - | - | - |
GRCh38 GRCh37 |
- | 14 |
CD2AP | - | - |
GRCh38 GRCh37 |
349 | 369 | |
CD2AP-DT | - | - | - | GRCh38 | - | 13 |
There are 220 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 20, 2012 | RCV000138349.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024