ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
NUS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
374 | 412 | |
GJA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
286 | 311 | |
AK9 | - | - |
GRCh38 GRCh37 |
67 | 117 | |
AKAP7 | - | - |
GRCh38 GRCh37 |
10 | 27 | |
AMD1 | - | - |
GRCh38 GRCh37 |
6 | 40 | |
ARG1 | - | - |
GRCh38 GRCh37 |
39 | 545 | |
ARHGAP18 | - | - |
GRCh38 GRCh37 |
27 | 49 | |
ARMC2 | - | - |
GRCh38 GRCh37 |
42 | 75 | |
ASF1A | - | - |
GRCh38 GRCh37 |
- | 37 | |
C6orf183 | - | - | - | GRCh38 | - | 9 |
There are 511 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051196.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023