ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3
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 | |||
NUS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
374 | 410 | |
GJA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
287 | 311 | |
ASF1A | - | - |
GRCh38 GRCh37 |
- | 35 | |
CENPW | - | - |
GRCh38 GRCh37 |
2 | 24 | |
CEP85L | - | - |
GRCh38 GRCh37 |
79 | 272 | |
CLVS2 | - | - |
GRCh38 GRCh37 |
11 | 35 | |
FABP7 | - | - |
GRCh38 GRCh37 |
7 | 31 | |
FAM184A | - | - | - |
GRCh38 GRCh37 |
46 | 75 |
HDDC2 | - | - | - |
GRCh38 GRCh37 |
8 | 32 |
HEY2 | - | - |
GRCh38 GRCh37 |
14 | 41 |
There are 139 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) |
|
Oct 7, 2011 | RCV000137726.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023