ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q12.1-12.3(chr8:60026663-63779735)
Germline
Classification
(1)
Likely 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 | |||
CHD7 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3244 | 3444 | |
ASPH | - | - |
GRCh38 GRCh37 |
169 | 211 | |
CA8 | - | - |
GRCh38 GRCh37 |
70 | 98 | |
CLVS1 | - | - |
GRCh38 GRCh37 |
11 | 45 | |
NKAIN3 | - | - |
GRCh38 GRCh37 |
7 | 37 | |
RAB2A | - | - |
GRCh38 GRCh37 |
5 | 35 | |
TOX | - | - |
GRCh38 GRCh37 |
24 | 56 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
May 20, 2020 | RCV001255692.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 02, 2023