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 |
380 | 417 | |
GJA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
292 | 317 | |
AK9 | - | - |
GRCh38 GRCh37 |
83 | 139 | |
AKAP7 | - | - |
GRCh38 GRCh37 |
12 | 31 | |
AMD1 | - | - |
GRCh38 GRCh37 |
7 | 41 | |
ARG1 | - | - |
GRCh38 GRCh37 |
40 | 553 | |
ARHGAP18 | - | - |
GRCh38 GRCh37 |
39 | 62 | |
ARMC2 | - | - |
GRCh38 GRCh37 |
57 | 98 | |
ASF1A | - | - |
GRCh38 GRCh37 |
- | 36 | |
C6orf183 | - | - | - | GRCh38 | - | 9 |
There are 511 more genes affected by this variant. See the full set of genes in Variation Viewer (NCBI36 , GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051196.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024