ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)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 | |||
NUS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
374 | 410 | |
SIM1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
184 | 266 | |
GJA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
287 | 311 | |
AFG1L | - | - |
GRCh38 GRCh37 |
11 | 34 | |
AK9 | - | - |
GRCh38 GRCh37 |
67 | 116 | |
AMD1 | - | - |
GRCh38 GRCh37 |
6 | 39 | |
ARMC2 | - | - |
GRCh38 GRCh37 |
42 | 73 | |
ARMC2-AS1 | - | - | - | GRCh38 | - | 10 |
ASCC3 | - | - |
GRCh38 GRCh37 |
125 | 153 | |
ASF1A | - | - |
GRCh38 GRCh37 |
- | 35 |
There are 550 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 2, 2011 | RCV000139465.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023