ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1
Germline
Classification
(1)
drug response
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 |
394 | 431 | |
GJA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
299 | 324 | |
AKAP7 | - | - |
GRCh38 GRCh37 |
16 | 35 | |
ARG1 | - | - |
GRCh38 GRCh37 |
40 | 554 | |
ARHGAP18 | - | - |
GRCh38 GRCh37 |
42 | 65 | |
ASF1A | - | - |
GRCh38 GRCh37 |
- | 38 | |
C6orf58 | - | - | - |
GRCh38 GRCh37 |
3 | 26 |
CALHM4 | - | - | - |
GRCh38 GRCh37 |
10 | 44 |
CALHM5 | - | - | - |
GRCh38 GRCh37 |
- | 50 |
CALHM6 | - | - |
GRCh38 GRCh37 |
- | 50 |
There are 65 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 |
---|---|---|---|---|
drug response (1) |
|
Nov 27, 2017 | RCV000626432.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023