ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)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 |
390 | 427 | |
GJA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
299 | 324 | |
AK9 | - | - |
GRCh38 GRCh37 |
92 | 152 | |
AMD1 | - | - |
GRCh38 GRCh37 |
8 | 43 | |
ASF1A | - | - |
GRCh38 GRCh37 |
- | 38 | |
CALHM4 | - | - | - |
GRCh38 GRCh37 |
10 | 44 |
CALHM5 | - | - | - |
GRCh38 GRCh37 |
- | 50 |
CALHM6 | - | - |
GRCh38 GRCh37 |
- | 50 | |
CCN6 | - | - |
GRCh38 GRCh37 |
223 | 248 | |
CD164 | - | - |
GRCh38 GRCh37 |
91 | 124 |
There are 62 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 10, 2017 | RCV004577478.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024